Graphic representations, especially of the face, of real persons, usually posed, living or dead. (From Thesaurus for Graphic Materials II, p540, 1995)
The study of the characteristics, behavior, and internal structures of the atomic nucleus and its interactions with other nuclei. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A quantitative measure of the frequency on average with which articles in a journal have been cited in a given period of time.
A characteristic symptom complex.
The use of statistical methods in the analysis of a body of literature to reveal the historical development of subject fields and patterns of authorship, publication, and use. Formerly called statistical bibliography. (from The ALA Glossary of Library and Information Science, 1983)
A publication issued at stated, more or less regular, intervals.
The guidelines and policy statements set forth by the editor(s) or editorial board of a publication.
Research that involves the application of the natural sciences, especially biology and physiology, to medicine.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
The term "United States" in a medical context often refers to the country where a patient or study participant resides, and is not a medical term per se, but relevant for epidemiological studies, healthcare policies, and understanding differences in disease prevalence, treatment patterns, and health outcomes across various geographic locations.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Disease having a short and relatively severe course.
A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Actual loss of portion of a chromosome.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.
A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)
Mapping of the KARYOTYPE of a cell.
Genes that influence the PHENOTYPE only in the homozygous state.
An individual having different alleles at one or more loci regarding a specific character.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Congenital craniostenosis with syndactyly.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Abnormally small jaw.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for skin, hair, and eye color, leading to changes in the color of these bodily features.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.

DNA helicase deficiencies associated with cancer predisposition and premature ageing disorders. (1/46)

Deficiency in a helicase of the RecQ family is found in at least three human genetic disorders associated with cancer predisposition and/or premature ageing. The RecQ helicases encoded by the BLM, WRN and RECQ4 genes are defective in Bloom's, Werner's and Rothmund-Thomson syndromes, respectively. Cells derived from individuals with these disorders in each case show inherent genomic instability. Recent studies have demonstrated direct interactions between these RecQ helicases and human nuclear proteins required for several aspects of chromosome maintenance, including p53, BRCA1, topoisomerase III, replication protein A and DNA polymerase delta. Here, we review this network of protein interactions, and the clues that they present regarding the potential roles of RecQ family members in DNA repair, replication and/or recombination pathways.  (+info)

Intron-size constraint as a mutational mechanism in Rothmund-Thomson syndrome. (2/46)

Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder caused by deleterious mutations in the RECQL4 gene on chromosome 8. The RECQL4 gene structure is unusual because it contains many small introns <100 bp. We describe a proband with RTS who has a novel 11-bp intronic deletion, and we show that this mutation results in a 66-bp intron too small for proper splicing. Constraint on intron size may represent a general mutational mechanism, since human-genome analysis reveals that approximately 15% of genes have introns <100 bp and are therefore susceptible to size constraint. Thus, monitoring of intron size may allow detection of mutations missed by exon-by-exon approaches.  (+info)

Kindler syndrome: a clinical case. (3/46)

Kindler's syndrome is a congenital disorder with simultaneous clinical characteristics of two congenital diseases: dystrophic epidermolysis bullosa and congenital poikiloderma. A review is made of the literature, with the presentation of the case of a 51-year-old woman who after a number of years of implant therapy for oral rehabilitation (total upper and partial lower arch edentulous status) developed xerostomia and a series of whitish and hyperkeratotic lesions associated with other atrophic erythematous lesions lining the entire oral mucosa. The clinical case and treatment are described, with the recommendation to ensure the follow-up of such patients, in order to avoid possible degenerative transformations of the disease, in view of its chronic nature.  (+info)

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (4/46)

BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was associated with a distinctive pattern of mutations in the RECQL4 gene. METHODS: We obtained clinical information about and biologic samples from 33 RTS patients (age range = 1-30 years). Eleven patients were diagnosed with osteosarcoma. All 21 exons and 13 short introns of the RECQL4 gene were sequenced from the genomic DNA of all subjects. Kaplan-Meier survival analysis was used to estimate the incidence of osteosarcoma among patients with and without mutations predicted to produce a truncated RECQL4 protein. RESULTS: Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes. The incidence of osteosarcoma was 0.00 per year in truncating mutation-negative patients (100 person-years of observation) and 0.05 per year in truncating mutation-positive patients (230 person-years of observation) (P =.037; two-sided log-rank test). CONCLUSIONS: Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.  (+info)

Growth retardation and skin abnormalities of the Recql4-deficient mouse. (5/46)

Mutations in the Recql4 gene are very likely responsible for a subset of Rothmund-Thomson syndrome (RTS) cases, but until now there has been no animal model to confirm this. Knockout mice in which the Recql4 gene is disrupted at exons 5-8 exhibit embryonic lethality at embryonic day 3.5-6.5. We generated a helicase activity-inhibited mouse by deleting exon 13 of Recql4, which is one of the coding exons of the consensus RecQ-helicase domain. This domain is the primary site of mutations that have been identified in RTS patients. The exon 13-deleted Recql4-deficient mice are viable, but exhibit severe growth retardation and abnormalities in several tissues, and embryonic fibroblasts show a defect in cell proliferation. Abnormalities in the Recql4-deficient mice are similar to those in RTS patients, suggesting that defects in the Recql4 gene may indeed be responsible for RTS. We speculate that the loss of Recql4 helicase activity results in the prematurely aged appearance observed in some RecQ helicase diseases.  (+info)

Kindler syndrome: two additional features. (6/46)

Kindler syndrome is a hereditary condition that combines the features of blistering and photosensitivity in infancy and early childhood with progressive poikiloderma. We report additional features observed in one affected individual.  (+info)

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. (7/46)

The RECQL4 helicase gene is a member of the RECQL gene family, mutated in some Rothmund-Thomson syndrome (RTS) patients. Other members of this gene family are BLM mutated in Bloom syndrome, WRN mutated in Werner syndrome and RECQL and RECQL5. All polypeptides encoded by RECQL genes share a central region of seven helicase domains. The function of RECQL4 remains unknown, but based on the domain homology it possesses ATP-dependent DNA helicase activity such as BLM and WRN. Rothmund-Thomson, Bloom and Werner syndromes have overlapping clinical features, of which high predisposition to malignancies is the most remarkable feature. Here we report a fourth syndrome resulting in mutations in the RECQL genes. RAPADILINO syndrome is an autosomal recessive disorder characterized by short stature, radial ray defects and other malformations, as well as infantile diarrhoea, but not by a significant cancer risk. Four mutations in the RECQL4 gene were found in the Finnish patients, the most common mutation representing exon 7 in-frame deletion saving the helicase domain and showing dominant effect over other three nonsense mutations. The tissue expression of Recql4 in mouse well agrees with the tissue symptoms of RAPADILINO. The skeletal malformations in RAPADILINO and RTS patients as well as the high osteosarcoma risk in RTS propose a special role for RECQL4 in bone development.  (+info)

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. (8/46)

Kindler syndrome (OMIM 173650) is a rare autosomal recessive disorder characterized by trauma-induced blister formation (especially in childhood) and photosensitivity. Other features include mucocutaneous scarring and progressive poikiloderma. There is also an increased risk of skin and mucous membrane malignancy. The disorder was recently mapped to 20p12.3 and pathogenic mutations were identified in a new gene, KIND1. This gene encodes a 677 amino acid protein, kindlin-1, a component of focal contacts in keratinocytes. In this study, we identified four new recurrent mutations in KIND1 in 16 individuals with Kindler syndrome from 13 families of Pakistani (676insC), UK Caucasian (E304X), Omani (W616X), or Italian (958-1G > A) origins. Haplotype analysis demonstrated common ancestral mutant alleles for each mutation, apart from one of the six Pakistani families in which the mutation 676insC (which occurs in a repeat of seven cytosines) was present on a different genetic background. All mutations were homozygous, apart from the three UK Caucasian cases that were all compound heterozygotes (second allele mutations: L302X, 1161delA, 1909delA). All mutations were associated with markedly reduced or absent skin immunostaining with an antikindlin-1 antibody. These loss-of-function KIND1 mutations demonstrate the importance of kindlin-1 in maintaining epithelial integrity, although the mechanism linking this mutant protein to photosensitivity and poikiloderma remains to be determined. Delineation of these recurrent mutations is also relevant to optimizing mutation detection strategies in Kindler syndrome patients from particular ethnic backgrounds.  (+info)

I'm sorry for any confusion, but "Portraits as Topic" is not a medical term or concept. It refers to portraits, which are visual representations or images of a person, usually showing the face and shoulders. The term "as Topic" indicates that it is the subject or theme being discussed. Therefore, "Portraits as Topic" generally relates to the study, analysis, or discussion of portraits in various contexts, such as art, psychology, sociology, or history. If you have any medical questions or terms you would like me to define, please don't hesitate to ask!

I'm sorry for any confusion, but "nuclear physics" is not a term that has a medical definition. Nuclear physics is a branch of physics that deals with the properties and behavior of atomic nuclei, including their composition, structure, and reactions. It is studied in order to better understand the nature of matter and energy, and it has important applications in fields such as nuclear power, nuclear medicine, and nuclear weapons. However, it is not a term that is used in the context of medical diagnosis or treatment. If you have any questions about a medical term or concept, I would be happy to try to help!

The Journal Impact Factor (JIF) is a measure of the frequency with which the "average article" in a journal has been cited in a particular year. It is calculated by dividing the number of current year citations to the source items published in that journal during the previous two years. For example, if a journal has an Impact Factor of 3 in 2020, that means articles published in 2018 and 2019 were cited 3 times on average in 2020. It is used to gauge the importance or rank of a journal by comparing the times it's articles are cited relative to other journals in the field. However, it has been criticized for various limitations such as being manipulated by editors and not reflecting the quality of individual articles.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

Bibliometrics is the use of statistical methods to analyze books, articles, and other publications. In the field of information science, bibliometrics is often used to measure the impact of scholarly works or authors by counting the number of times that a work has been cited in other publications. This can help researchers identify trends and patterns in research output and collaboration, as well as assess the influence of individual researchers or institutions.

Bibliometric analyses may involve a variety of statistical measures, such as citation counts, author productivity, journal impact factors, and collaborative networks. These measures can be used to evaluate the performance of individual researchers, departments, or institutions, as well as to identify areas of research strength or weakness.

It is important to note that while bibliometrics can provide useful insights into research trends and impact, they should not be the sole basis for evaluating the quality or significance of scholarly work. Other factors, such as the rigor of the research design, the clarity of the writing, and the relevance of the findings to the field, are also important considerations.

A "periodical" in the context of medicine typically refers to a type of publication that is issued regularly, such as on a monthly or quarterly basis. These publications include peer-reviewed journals, magazines, and newsletters that focus on medical research, education, and practice. They may contain original research articles, review articles, case reports, editorials, letters to the editor, and other types of content related to medical science and clinical practice.

As a "Topic," periodicals in medicine encompass various aspects such as their role in disseminating new knowledge, their impact on clinical decision-making, their quality control measures, and their ethical considerations. Medical periodicals serve as a crucial resource for healthcare professionals, researchers, students, and other stakeholders to stay updated on the latest developments in their field and to share their findings with others.

Editorial policies refer to a set of guidelines and principles that govern the development, selection, peer-review, production, and publication of manuscripts in a medical journal. These policies aim to ensure the integrity, transparency, and quality of the published research while adhering to ethical standards and best practices in scientific publishing.

Some essential components of editorial policies include:

1. Authorship criteria: Defining who qualifies as an author, their roles, and responsibilities, and specifying the order of authorship based on contribution.
2. Conflict of interest disclosure: Requiring authors, reviewers, and editors to declare any potential conflicts of interest that may influence their judgment or objectivity in the manuscript's evaluation.
3. Peer-review process: Outlining the steps involved in the peer-review process, including the selection of reviewers, the number of required reviews, and the criteria for accepting or rejecting a manuscript.
4. Plagiarism detection: Employing plagiarism detection software to ensure originality and prevent unethical practices such as self-plagiarism or duplicate publication.
5. Data sharing: Encouraging or requiring authors to share their data, code, or materials to promote transparency and reproducibility of the research findings.
6. Corrections and retractions: Establishing procedures for correcting errors, addressing scientific misconduct, and retracting published articles when necessary.
7. Post-publication discussions: Encouraging open dialogue and constructive criticism through post-publication discussions or letters to the editor.
8. Accessibility and copyright: Describing how the journal ensures accessibility of its content, such as through open-access models, and outlining the terms of copyright and licensing agreements.
9. Archiving and preservation: Ensuring long-term preservation and availability of published content by depositing it in appropriate digital archives or repositories.
10. Compliance with international standards: Adhering to guidelines and best practices established by organizations such as the International Committee of Medical Journal Editors (ICMJE), the World Association of Medical Editors (WAME), and the Committee on Publication Ethics (COPE).

Biomedical research is a branch of scientific research that involves the study of biological processes and diseases in order to develop new treatments and therapies. This type of research often involves the use of laboratory techniques, such as cell culture and genetic engineering, as well as clinical trials in humans. The goal of biomedical research is to advance our understanding of how living organisms function and to find ways to prevent and treat various medical conditions. It encompasses a wide range of disciplines, including molecular biology, genetics, immunology, pharmacology, and neuroscience, among others. Ultimately, the aim of biomedical research is to improve human health and well-being.

Down syndrome is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is characterized by intellectual and developmental disabilities, distinctive facial features, and sometimes physical growth delays and health problems. The condition affects approximately one in every 700 babies born in the United States.

Individuals with Down syndrome have varying degrees of cognitive impairment, ranging from mild to moderate or severe. They may also have delayed development, including late walking and talking, and may require additional support and education services throughout their lives.

People with Down syndrome are at increased risk for certain health conditions, such as congenital heart defects, respiratory infections, hearing loss, vision problems, gastrointestinal issues, and thyroid disorders. However, many individuals with Down syndrome live healthy and fulfilling lives with appropriate medical care and support.

The condition is named after John Langdon Down, an English physician who first described the syndrome in 1866.

Metabolic syndrome, also known as Syndrome X, is a cluster of conditions that increase the risk of heart disease, stroke, and diabetes. It is not a single disease but a group of risk factors that often co-occur. According to the American Heart Association and the National Heart, Lung, and Blood Institute, a person has metabolic syndrome if they have any three of the following five conditions:

1. Abdominal obesity (waist circumference of 40 inches or more in men, and 35 inches or more in women)
2. Triglyceride level of 150 milligrams per deciliter of blood (mg/dL) or greater
3. HDL cholesterol level of less than 40 mg/dL in men or less than 50 mg/dL in women
4. Systolic blood pressure of 130 millimeters of mercury (mmHg) or greater, or diastolic blood pressure of 85 mmHg or greater
5. Fasting glucose level of 100 mg/dL or greater

Metabolic syndrome is thought to be caused by a combination of genetic and lifestyle factors, such as physical inactivity and a diet high in refined carbohydrates and unhealthy fats. Treatment typically involves making lifestyle changes, such as eating a healthy diet, getting regular exercise, and losing weight if necessary. In some cases, medication may also be needed to manage individual components of the syndrome, such as high blood pressure or high cholesterol.

I'm sorry for any confusion, but "United States" is a geopolitical entity, specifically the name of the country consisting of 50 states, and it is not a medical term or concept. Therefore, I can't provide a medical definition for it. If you have any questions related to health, medicine, or biology, I would be happy to try to help answer those!

Nephrotic syndrome is a group of symptoms that indicate kidney damage, specifically damage to the glomeruli—the tiny blood vessel clusters in the kidneys that filter waste and excess fluids from the blood. The main features of nephrotic syndrome are:

1. Proteinuria (excess protein in urine): Large amounts of a protein called albumin leak into the urine due to damaged glomeruli, which can't properly filter proteins. This leads to low levels of albumin in the blood, causing fluid buildup and swelling.
2. Hypoalbuminemia (low blood albumin levels): As albumin leaks into the urine, the concentration of albumin in the blood decreases, leading to hypoalbuminemia. This can cause edema (swelling), particularly in the legs, ankles, and feet.
3. Edema (fluid retention and swelling): With low levels of albumin in the blood, fluids move into the surrounding tissues, causing swelling or puffiness. The swelling is most noticeable around the eyes, face, hands, feet, and abdomen.
4. Hyperlipidemia (high lipid/cholesterol levels): The kidneys play a role in regulating lipid metabolism. Damage to the glomeruli can lead to increased lipid production and high cholesterol levels in the blood.

Nephrotic syndrome can result from various underlying kidney diseases, such as minimal change disease, membranous nephropathy, or focal segmental glomerulosclerosis. Treatment depends on the underlying cause and may include medications to control inflammation, manage high blood pressure, and reduce proteinuria. In some cases, dietary modifications and lifestyle changes are also recommended.

Sjögren's syndrome is a chronic autoimmune disorder in which the body's immune system mistakenly attacks its own moisture-producing glands, particularly the tear and salivary glands. This can lead to symptoms such as dry eyes, dry mouth, and dryness in other areas of the body. In some cases, it may also affect other organs, leading to a variety of complications.

There are two types of Sjögren's syndrome: primary and secondary. Primary Sjögren's syndrome occurs when the condition develops on its own, while secondary Sjögren's syndrome occurs when it develops in conjunction with another autoimmune disease, such as rheumatoid arthritis or lupus.

The exact cause of Sjögren's syndrome is not fully understood, but it is believed to involve a combination of genetic and environmental factors. Treatment typically focuses on relieving symptoms and may include artificial tears, saliva substitutes, medications to stimulate saliva production, and immunosuppressive drugs in more severe cases.

Turner Syndrome is a genetic disorder that affects females, caused by complete or partial absence of one X chromosome. The typical karyotype is 45,X0 instead of the normal 46,XX in women. This condition leads to distinctive physical features and medical issues in growth, development, and fertility. Characteristic features include short stature, webbed neck, low-set ears, and swelling of the hands and feet. Other potential symptoms can include heart defects, hearing and vision problems, skeletal abnormalities, kidney issues, and learning disabilities. Not all individuals with Turner Syndrome will have every symptom, but most will require medical interventions and monitoring throughout their lives to address various health concerns associated with the condition.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Myelodysplastic syndromes (MDS) are a group of diverse bone marrow disorders characterized by dysplasia (abnormal development or maturation) of one or more types of blood cells or by ineffective hematopoiesis, resulting in cytopenias (lower than normal levels of one or more types of blood cells). MDS can be classified into various subtypes based on the number and type of cytopenias, the degree of dysplasia, the presence of ring sideroblasts, and cytogenetic abnormalities.

The condition primarily affects older adults, with a median age at diagnosis of around 70 years. MDS can evolve into acute myeloid leukemia (AML) in approximately 30-40% of cases. The pathophysiology of MDS involves genetic mutations and chromosomal abnormalities that lead to impaired differentiation and increased apoptosis of hematopoietic stem and progenitor cells, ultimately resulting in cytopenias and an increased risk of developing AML.

The diagnosis of MDS typically requires a bone marrow aspiration and biopsy, along with cytogenetic and molecular analyses to identify specific genetic mutations and chromosomal abnormalities. Treatment options for MDS depend on the subtype, severity of cytopenias, and individual patient factors. These may include supportive care measures, such as transfusions and growth factor therapy, or more aggressive treatments, such as chemotherapy and stem cell transplantation.

Cushing syndrome is a hormonal disorder that occurs when your body is exposed to high levels of the hormone cortisol for a long time. This can happen due to various reasons such as taking high doses of corticosteroid medications or tumors that produce cortisol or adrenocorticotropic hormone (ACTH).

The symptoms of Cushing syndrome may include:

* Obesity, particularly around the trunk and upper body
* Thinning of the skin, easy bruising, and purple or red stretch marks on the abdomen, thighs, breasts, and arms
* Weakened bones, leading to fractures
* High blood pressure
* High blood sugar
* Mental changes such as depression, anxiety, and irritability
* Increased fatigue and weakness
* Menstrual irregularities in women
* Decreased fertility in men

Cushing syndrome can be diagnosed through various tests, including urine and blood tests to measure cortisol levels, saliva tests, and imaging tests to locate any tumors. Treatment depends on the cause of the condition but may include surgery, radiation therapy, chemotherapy, or adjusting medication dosages.

Acute Coronary Syndrome (ACS) is a term used to describe a range of conditions associated with sudden, reduced blood flow to the heart muscle. This reduction in blood flow, commonly caused by blood clots forming in coronary arteries, can lead to damage or death of the heart muscle and is often characterized by symptoms such as chest pain, shortness of breath, and fatigue.

There are three main types of ACS:

1. Unstable Angina: This occurs when there is reduced blood flow to the heart muscle, causing chest pain or discomfort, but the heart muscle is not damaged. It can be a warning sign for a possible future heart attack.
2. Non-ST Segment Elevation Myocardial Infarction (NSTEMI): This type of heart attack occurs when there is reduced blood flow to the heart muscle, causing damage or death of some of the muscle cells. However, the electrical activity of the heart remains relatively normal.
3. ST Segment Elevation Myocardial Infarction (STEMI): This is a serious and life-threatening type of heart attack that occurs when there is a complete blockage in one or more of the coronary arteries, causing extensive damage to the heart muscle. The electrical activity of the heart is significantly altered, which can lead to dangerous heart rhythms and even cardiac arrest.

Immediate medical attention is required for anyone experiencing symptoms of ACS, as prompt treatment can help prevent further damage to the heart muscle and reduce the risk of complications or death. Treatment options may include medications, lifestyle changes, and procedures such as angioplasty or bypass surgery.

Polycyctic Ovary Syndrome (PCOS) is a complex endocrine-metabolic disorder characterized by the presence of hyperandrogenism (excess male hormones), ovulatory dysfunction, and polycystic ovaries. The Rotterdam criteria are commonly used for diagnosis, which require at least two of the following three features:

1. Oligo- or anovulation (irregular menstrual cycles)
2. Clinical and/or biochemical signs of hyperandrogenism (e.g., hirsutism, acne, or high levels of androgens in the blood)
3. Polycystic ovaries on ultrasound examination (presence of 12 or more follicles measuring 2-9 mm in diameter, or increased ovarian volume >10 mL)

The exact cause of PCOS remains unclear, but it is believed to involve a combination of genetic and environmental factors. Insulin resistance and obesity are common findings in women with PCOS, which can contribute to the development of metabolic complications such as type 2 diabetes, dyslipidemia, and cardiovascular disease.

Management of PCOS typically involves a multidisciplinary approach that includes lifestyle modifications (diet, exercise, weight loss), medications to regulate menstrual cycles and reduce hyperandrogenism (e.g., oral contraceptives, metformin, anti-androgens), and fertility treatments if desired. Regular monitoring of metabolic parameters and long-term follow-up are essential for optimal management and prevention of complications.

Williams Syndrome is a rare genetic disorder caused by the deletion of a small portion of chromosome 7. This results in various developmental and medical problems, which can include:

1. Distinctive facial features such as a broad forehead, wide-set eyes, short nose, and full lips.
2. Cardiovascular disease, particularly narrowed or missing blood vessels near the heart.
3. Developmental delays and learning disabilities, although most people with Williams Syndrome have an IQ in the mild to moderate range of intellectual disability.
4. A unique pattern of strengths and weaknesses in cognitive skills, such as strong language skills but significant difficulty with visual-spatial tasks.
5. Overly friendly or sociable personality, often displaying a lack of fear or wariness around strangers.
6. Increased risk of anxiety and depression.
7. Sensitive hearing and poor depth perception.
8. Short stature in adulthood.

Williams Syndrome affects about 1 in every 10,000 people worldwide, regardless of race or ethnic background. It is not an inherited disorder, but rather a spontaneous genetic mutation.

DiGeorge syndrome is a genetic disorder caused by the deletion of a small piece of chromosome 22. It is also known as 22q11.2 deletion syndrome. The symptoms and severity can vary widely among affected individuals, but often include birth defects such as congenital heart disease, poor immune system function, and palatal abnormalities. Characteristic facial features, learning disabilities, and behavioral problems are also common. Some people with DiGeorge syndrome may have mild symptoms while others may be more severely affected. The condition is typically diagnosed through genetic testing. Treatment is focused on managing the specific symptoms and may include surgery, medications, and therapy.

Horner syndrome, also known as Horner's syndrome or oculosympathetic palsy, is a neurological disorder characterized by the interruption of sympathetic nerve pathways that innervate the head and neck, leading to a constellation of signs affecting the eye and face on one side of the body.

The classic triad of symptoms includes:

1. Ptosis (drooping) of the upper eyelid: This is due to the weakness or paralysis of the levator palpebrae superioris muscle, which is responsible for elevating the eyelid.
2. Miosis (pupillary constriction): The affected pupil becomes smaller in size compared to the other side, and it may not react as robustly to light.
3. Anhydrosis (decreased sweating): There is reduced or absent sweating on the ipsilateral (same side) of the face, particularly around the forehead and upper eyelid.

Horner syndrome can be caused by various underlying conditions, such as brainstem stroke, tumors, trauma, or certain medical disorders affecting the sympathetic nervous system. The diagnosis typically involves a thorough clinical examination, pharmacological testing, and sometimes imaging studies to identify the underlying cause. Treatment is directed towards managing the underlying condition responsible for Horner syndrome.

Prader-Willi Syndrome (PWS) is a genetic disorder that affects several parts of the body and is characterized by a range of symptoms including:

1. Developmental delays and intellectual disability.
2. Hypotonia (low muscle tone) at birth, which can lead to feeding difficulties in infancy.
3. Excessive appetite and obesity, typically beginning around age 2, due to a persistent hunger drive and decreased satiety.
4. Behavioral problems such as temper tantrums, stubbornness, and compulsive behaviors.
5. Hormonal imbalances leading to short stature, small hands and feet, incomplete sexual development, and decreased bone density.
6. Distinctive facial features including a thin upper lip, almond-shaped eyes, and a narrowed forehead.
7. Sleep disturbances such as sleep apnea or excessive daytime sleepiness.

PWS is caused by the absence of certain genetic material on chromosome 15, which results in abnormal gene function. It affects both males and females equally and has an estimated incidence of 1 in 10,000 to 30,000 live births. Early diagnosis and management can help improve outcomes for individuals with PWS.

Long QT syndrome (LQTS) is a cardiac electrical disorder characterized by a prolonged QT interval on the electrocardiogram (ECG), which can potentially trigger rapid, chaotic heartbeats known as ventricular tachyarrhythmias, such as torsades de pointes. These arrhythmias can be life-threatening and lead to syncope (fainting) or sudden cardiac death. LQTS is often congenital but may also be acquired due to certain medications, medical conditions, or electrolyte imbalances. It's essential to identify and manage LQTS promptly to reduce the risk of severe complications.

Guillain-Barré syndrome (GBS) is a rare autoimmune disorder in which the body's immune system mistakenly attacks the peripheral nervous system, leading to muscle weakness, tingling sensations, and sometimes paralysis. The peripheral nervous system includes the nerves that control our movements and transmit signals from our skin, muscles, and joints to our brain.

The onset of GBS usually occurs after a viral or bacterial infection, such as respiratory or gastrointestinal infections, or following surgery, vaccinations, or other immune system triggers. The exact cause of the immune response that leads to GBS is not fully understood.

GBS typically progresses rapidly over days or weeks, with symptoms reaching their peak within 2-4 weeks after onset. Most people with GBS experience muscle weakness that starts in the lower limbs and spreads upward to the upper body, arms, and face. In severe cases, the diaphragm and chest muscles may become weakened, leading to difficulty breathing and requiring mechanical ventilation.

The diagnosis of GBS is based on clinical symptoms, nerve conduction studies, and sometimes cerebrospinal fluid analysis. Treatment typically involves supportive care, such as pain management, physical therapy, and respiratory support if necessary. In addition, plasma exchange (plasmapheresis) or intravenous immunoglobulin (IVIG) may be used to reduce the severity of symptoms and speed up recovery.

While most people with GBS recover completely or with minimal residual symptoms, some may experience long-term disability or require ongoing medical care. The prognosis for GBS varies depending on the severity of the illness and the individual's age and overall health.

Hemolytic-Uremic Syndrome (HUS) is a serious condition that affects the blood and kidneys. It is characterized by three major features: the breakdown of red blood cells (hemolysis), the abnormal clotting of small blood vessels (microthrombosis), and acute kidney failure.

The breakdown of red blood cells leads to the release of hemoglobin into the bloodstream, which can cause anemia. The microthrombi can obstruct the flow of blood in the kidneys' filtering system (glomeruli), leading to damaged kidney function and potentially acute kidney failure.

HUS is often caused by a bacterial infection, most commonly Escherichia coli (E. coli) that produces Shiga toxins. This form of HUS is known as STEC-HUS or Stx-HUS. Other causes include infections with other bacteria, viruses, medications, pregnancy complications, and certain medical conditions such as autoimmune diseases.

Symptoms of HUS may include fever, fatigue, decreased urine output, blood in the stool, swelling in the face, hands, or feet, and irritability or confusion. Treatment typically involves supportive care, including dialysis for kidney failure, transfusions to replace lost red blood cells, and managing high blood pressure. In severe cases, a kidney transplant may be necessary.

Compartment syndromes refer to a group of conditions characterized by increased pressure within a confined anatomical space (compartment), leading to impaired circulation and nerve function. These compartments are composed of bones, muscles, tendons, blood vessels, and nerves, surrounded by a tough fibrous fascial covering that does not expand easily.

There are two main types of compartment syndromes: acute and chronic.

1. Acute Compartment Syndrome (ACS): This is a medical emergency that typically occurs after trauma, fractures, or prolonged compression of the affected limb. The increased pressure within the compartment reduces blood flow to the muscles and nerves, causing ischemia, pain, and potential muscle and nerve damage if not promptly treated with fasciotomy (surgical release of the fascial covering). Symptoms include severe pain disproportionate to the injury, pallor, paresthesia (abnormal sensation), pulselessness, and paralysis.
2. Chronic Compartment Syndrome (CCS) or Exertional Compartment Syndrome: This condition is caused by repetitive physical activities that lead to increased compartment pressure over time. The symptoms are usually reversible with rest and may include aching, cramping, tightness, or swelling in the affected limb during exercise. CCS rarely leads to permanent muscle or nerve damage if managed appropriately with activity modification, physical therapy, and occasionally surgical intervention (fasciotomy or fasciectomy).

Early recognition and appropriate management of compartment syndromes are crucial for preventing long-term complications such as muscle necrosis, contractures, and nerve damage.

Tourette Syndrome (TS) is a neurological disorder characterized by the presence of multiple motor tics and at least one vocal (phonic) tic. These tics are sudden, repetitive, rapid, involuntary movements or sounds that occur for more than a year and are not due to substance use or other medical conditions. The symptoms typically start before the age of 18, with the average onset around 6-7 years old.

The severity, frequency, and types of tics can vary greatly among individuals with TS and may change over time. Common motor tics include eye blinking, facial grimacing, shoulder shrugging, and head or limb jerking. Vocal tics can range from simple sounds like throat clearing, coughing, or barking to more complex phrases or words.

In some cases, TS may be accompanied by co-occurring conditions such as attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, and depression. These associated symptoms can sometimes have a greater impact on daily functioning than the tics themselves.

The exact cause of Tourette Syndrome remains unclear, but it is believed to involve genetic factors and abnormalities in certain brain regions involved in movement control and inhibition. There is currently no cure for TS, but various treatments, including behavioral therapy and medications, can help manage the symptoms and improve quality of life.

Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies in the blood. These antibodies are directed against phospholipids, a type of fat molecule found in cell membranes and plasma lipoproteins. The presence of these antibodies can lead to abnormal blood clotting, which can cause serious complications such as stroke, heart attack, deep vein thrombosis, and pulmonary embolism.

APS can occur either on its own (primary APS) or in conjunction with other autoimmune disorders, such as systemic lupus erythematosus (secondary APS). The exact cause of APS is not fully understood, but it is believed to involve a combination of genetic and environmental factors.

Symptoms of APS can vary widely depending on the location and severity of the blood clots. They may include:

* Recurrent miscarriages or stillbirths
* Blood clots in the legs, lungs, or other parts of the body
* Skin ulcers or lesions
* Headaches, seizures, or stroke-like symptoms
* Kidney problems
* Heart valve abnormalities

Diagnosis of APS typically involves blood tests to detect the presence of antiphospholipid antibodies. Treatment may include medications to prevent blood clots, such as anticoagulants and antiplatelet agents, as well as management of any underlying autoimmune disorders.

Porcine Reproductive and Respiratory Syndrome (PRRS) is a viral disease that affects pigs, causing reproductive failure in breeding herds and respiratory illness in young pigs. The disease is caused by the PRRS virus, which belongs to the family Arteriviridae.

In pregnant sows, PRRS can cause abortions, stillbirths, mummified fetuses, and weak or infertile offspring. In growing pigs, it can lead to pneumonia, reduced growth rates, and increased susceptibility to other infections. The virus is highly contagious and can spread rapidly within a herd through direct contact with infected pigs, aerosols, or contaminated fomites.

PRRS is a significant disease of global importance, causing substantial economic losses to the swine industry. Control measures include biosecurity practices, vaccination, and testing to detect and eliminate the virus from affected herds. However, there is no specific treatment for PRRS, and eradication of the virus from the pig population is unlikely due to its widespread distribution and ability to persist in infected animals and the environment.

Klinefelter Syndrome: A genetic disorder in males, caused by the presence of one or more extra X chromosomes, typically resulting in XXY karyotype. It is characterized by small testes, infertility, gynecomastia (breast enlargement), tall stature, and often mild to moderate intellectual disability. The symptoms can vary greatly among individuals with Klinefelter Syndrome. Some men may not experience any significant health problems and may never be diagnosed, while others may have serious medical or developmental issues that require treatment. It is one of the most common chromosomal disorders, affecting about 1 in every 500-1,000 newborn males.

Carpal Tunnel Syndrome (CTS) is a common peripheral nerve disorder that affects the median nerve, which runs from the forearm into the hand through a narrow tunnel-like structure in the wrist called the carpal tunnel. The condition is caused by compression or pinching of the median nerve as it passes through this tunnel, leading to various symptoms such as numbness, tingling, and weakness in the hand and fingers.

The median nerve provides sensation to the thumb, index finger, middle finger, and half of the ring finger. It also controls some small muscles in the hand that allow for fine motor movements. When the median nerve is compressed or damaged due to CTS, it can result in a range of symptoms including:

1. Numbness, tingling, or burning sensations in the fingers (especially the thumb, index finger, middle finger, and half of the ring finger)
2. Pain or discomfort in the hand, wrist, or forearm
3. Weakness in the hand, leading to difficulty gripping objects or making a fist
4. A sensation of swelling or inflammation in the fingers, even if there is no visible swelling present
5. Nighttime symptoms that may disrupt sleep patterns

The exact cause of Carpal Tunnel Syndrome can vary from person to person, but some common risk factors include:

1. Repetitive hand and wrist motions (such as typing, writing, or using tools)
2. Prolonged exposure to vibrations (from machinery or power tools)
3. Wrist trauma or fractures
4. Pregnancy and hormonal changes
5. Certain medical conditions like diabetes, rheumatoid arthritis, and thyroid disorders
6. Obesity
7. Smoking

Diagnosis of Carpal Tunnel Syndrome typically involves a physical examination, medical history review, and sometimes specialized tests like nerve conduction studies or electromyography to confirm the diagnosis and assess the severity of the condition. Treatment options may include splinting, medication, corticosteroid injections, and in severe cases, surgery to relieve pressure on the median nerve.

Werner Syndrome is a rare, autosomal recessive genetic disorder characterized by the appearance of premature aging. It's often referred to as "progeria of the adult" or "adult progeria." The syndrome is caused by mutations in the WRN gene, which provides instructions for making a protein involved in repairing damaged DNA and maintaining the stability of the genetic information.

The symptoms typically begin in a person's late teens or early twenties and may include:
- Short stature
- Premature graying and loss of hair
- Skin changes, such as scleroderma (a thickening and hardening of the skin) and ulcers
- Voice changes
- Type 2 diabetes
- Cataracts
- Atherosclerosis (the buildup of fats, cholesterol, and other substances in and on the artery walls)
- Increased risk of cancer

The life expectancy of individuals with Werner Syndrome is typically around 45 to 50 years. It's important to note that while there are similarities between Werner Syndrome and other forms of progeria, such as Hutchinson-Gilford Progeria Syndrome, they are distinct conditions with different genetic causes and clinical features.

Reye Syndrome is a rare but serious condition that primarily affects children and teenagers, particularly those who have recently recovered from viral infections such as chickenpox or flu. It is characterized by rapidly progressive encephalopathy (brain dysfunction) and fatty degeneration of the liver.

The exact cause of Reye Syndrome remains unknown, but it has been linked to the use of aspirin and other salicylate-containing medications during viral illnesses. The American Academy of Pediatrics recommends avoiding the use of aspirin in children and teenagers with chickenpox or flu-like symptoms due to this association.

Early symptoms of Reye Syndrome include persistent vomiting, diarrhea, and listlessness. As the condition progresses, symptoms can worsen and may include disorientation, seizures, coma, and even death in severe cases. Diagnosis is typically based on clinical presentation, laboratory tests, and sometimes a liver biopsy.

Treatment for Reye Syndrome involves supportive care, such as fluid and electrolyte management, addressing metabolic abnormalities, controlling intracranial pressure, and providing ventilatory support if necessary. Early recognition and intervention are crucial to improving outcomes in affected individuals.

Bartter syndrome is a rare genetic disorder that affects the kidneys' ability to reabsorb sodium and chloride, leading to an imbalance of electrolytes in the body. This condition is characterized by hypokalemia (low potassium levels), metabolic alkalosis (high pH levels in the blood), and normal or low blood pressure. It can also result in increased urine production, excessive thirst, and growth retardation in children. There are two major types of Bartter syndrome, based on the genes affected: type I caused by mutations in the SLC12A1 gene, and type II caused by mutations in the KCNJ1 gene. Type III is caused by mutations in the CLCNKB gene, while type IV is caused by mutations in the BSND or CLCNKB genes. Treatment typically involves supplementation of electrolytes, such as potassium and magnesium, as well as nonsteroidal anti-inflammatory drugs (NSAIDs) to help reduce sodium loss in the urine.

Porcine Respiratory and Reproductive Syndrome Virus (PRRSV) is an enveloped, positive-stranded RNA virus belonging to the Arteriviridae family. It is the causative agent of Porcine Respiratory and Reproductive Syndrome (PRRS), also known as "blue ear disease" or "porcine reproductive and respiratory syndrome."

The virus primarily affects pigs, causing a wide range of clinical signs including respiratory distress in young animals and reproductive failure in pregnant sows. The infection can lead to late-term abortions, stillbirths, premature deliveries, and weak or mummified fetuses. In growing pigs, PRRSV can cause pneumonia, which is often accompanied by secondary bacterial infections.

PRRSV has a tropism for cells of the monocyte-macrophage lineage, and it replicates within these cells, leading to the release of pro-inflammatory cytokines and the development of the clinical signs associated with the disease. The virus is highly infectious and can spread rapidly in susceptible pig populations, making it a significant concern for the swine industry worldwide.

It's important to note that PRRSV has two distinct genotypes: Type 1 (European) and Type 2 (North American). Both types have a high degree of genetic diversity, which can make controlling the virus challenging. Vaccination is available for PRRSV, but it may not provide complete protection against all strains of the virus, and it may not prevent infection or shedding. Therefore, biosecurity measures, such as strict sanitation and animal movement controls, are critical to preventing the spread of this virus in pig populations.

HELLP syndrome is a serious complication in pregnancy, characterized by Hemolysis (the breakdown of red blood cells), Elevated Liver enzymes, and Low Platelet count. It is often considered a variant of severe preeclampsia or eclampsia, although it can also occur without these conditions.

The symptoms of HELLP syndrome include headache, nausea and vomiting, upper right abdominal pain, and visual disturbances. It can lead to serious complications for both the mother and the baby, such as liver failure, placental abruption, disseminated intravascular coagulation (DIC), and even death if not promptly diagnosed and treated.

The exact cause of HELLP syndrome is not known, but it is thought to be related to problems with the blood vessels that supply the placenta. Treatment typically involves delivering the baby as soon as possible, even if the baby is premature. Women who have had HELLP syndrome are at increased risk for complications in future pregnancies.

Bloom syndrome is a rare genetic disorder characterized by short stature, sun-sensitive skin rash, and an increased risk of developing cancer. It is caused by mutations in the BLM gene, which provides instructions for making a protein that helps prevent tangles and knots from forming in DNA during cell division. As a result, cells with Bloom syndrome have a high rate of genetic recombination, leading to chromosomal instability and an increased risk of cancer.

Individuals with Bloom syndrome typically have a distinctive facial appearance, including a narrow face, small jaw, and a prominent nose. They may also have learning disabilities, fertility problems, and an increased susceptibility to infections. The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Bloom syndrome is typically diagnosed through genetic testing and chromosome analysis. Treatment is focused on managing the symptoms and reducing the risk of cancer through regular screenings and lifestyle modifications.

Brugada Syndrome is a genetic disorder characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. It is typically caused by a mutation in the SCN5A gene, which encodes for a sodium channel protein in the heart. This mutation can lead to abnormal ion transport in the heart cells, causing changes in the electrical activity of the heart that can trigger dangerous arrhythmias.

The ECG findings associated with Brugada Syndrome include a distinct pattern of ST-segment elevation in the right precordial leads (V1-V3), which can appear spontaneously or be induced by certain medications. The syndrome is often classified into two types based on the presence or absence of symptoms:

* Type 1 Brugada Syndrome: This type is characterized by a coved-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a negative T wave. This pattern must be present to make the diagnosis, and it should not be transient or induced by any medication or condition. Type 1 Brugada Syndrome is associated with a higher risk of sudden cardiac death.
* Type 2 Brugada Syndrome: This type is characterized by a saddleback-type ST-segment elevation of at least 2 mm in height in at least one right precordial lead, with a positive or biphasic T wave. The ST segment should return to the baseline level or below within 0.08 seconds after the J point (the junction between the QRS complex and the ST segment). Type 2 Brugada Syndrome is associated with a lower risk of sudden cardiac death compared to Type 1, but it can still pose a significant risk in some individuals.

Brugada Syndrome can affect people of any age, gender, or ethnicity, although it is more commonly diagnosed in middle-aged men of Asian descent. The syndrome can be inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the mutation from a parent who carries the gene. However, not all individuals with the genetic mutation will develop symptoms or have abnormal ECG findings.

Treatment for Brugada Syndrome typically involves implanting a cardioverter-defibrillator (ICD) to prevent sudden cardiac death. Medications such as quinidine or isoproterenol may also be used to reduce the risk of arrhythmias. Lifestyle modifications, such as avoiding alcohol and certain medications that can trigger arrhythmias, may also be recommended.

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect connective tissues, which are the proteins and chemicals in the body that provide structure and support for skin, bones, blood vessels, and other organs. People with EDS have stretching (elastic) skin and joints that are too loose (hypermobile). There are several types of EDS, each with its own set of symptoms and level of severity. Some of the more common types include:

* Classical EDS: This type is characterized by skin that can be stretched far beyond normal and bruises easily. Affected individuals may also have joints that dislocate easily.
* Hypermobile EDS: This type is marked by joint hypermobility, which can lead to frequent dislocations and subluxations (partial dislocations). Some people with this type of EDS also have Marfan syndrome-like features, such as long fingers and a curved spine.
* Vascular EDS: This type is caused by changes in the COL3A1 gene and is characterized by thin, fragile skin that tears or bruises easily. People with vascular EDS are at risk of serious complications, such as arterial rupture and organ perforation.
* Kyphoscoliosis EDS: This type is marked by severe kyphoscoliosis (a forward curvature of the spine) and joint laxity. Affected individuals may also have fragile skin that tears or bruises easily.

EDS is typically inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the altered gene from either parent to develop the condition. However, some types of EDS are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the altered gene (one from each parent) to develop the condition.

There is no cure for EDS, and treatment is focused on managing symptoms and preventing complications. This may include physical therapy to strengthen muscles and improve joint stability, bracing to support joints, and surgery to repair damaged tissues or organs.

Respiratory Distress Syndrome, Adult (RDSa or ARDS), also known as Acute Respiratory Distress Syndrome, is a severe form of acute lung injury characterized by rapid onset of widespread inflammation in the lungs. This results in increased permeability of the alveolar-capillary membrane, pulmonary edema, and hypoxemia (low oxygen levels in the blood). The inflammation can be triggered by various direct or indirect insults to the lung, such as sepsis, pneumonia, trauma, or aspiration.

The hallmark of ARDS is the development of bilateral pulmonary infiltrates on chest X-ray, which can resemble pulmonary edema, but without evidence of increased left atrial pressure. The condition can progress rapidly and may require mechanical ventilation with positive end-expiratory pressure (PEEP) to maintain adequate oxygenation and prevent further lung injury.

The management of ARDS is primarily supportive, focusing on protecting the lungs from further injury, optimizing oxygenation, and providing adequate nutrition and treatment for any underlying conditions. The use of low tidal volumes and limiting plateau pressures during mechanical ventilation have been shown to improve outcomes in patients with ARDS.

Angelman Syndrome is a genetic disorder that affects the nervous system and is characterized by intellectual disability, developmental delay, lack of speech or limited speech, movement and balance disorders, and a happy, excitable demeanor. Individuals with Angelman Syndrome often have a distinctive facial appearance, including widely spaced teeth, a wide mouth, and protruding tongue. Seizures are also common in individuals with this condition.

The disorder is caused by the absence or malfunction of a gene called UBE3A, which is located on chromosome 15. In about 70% of cases, the deletion of a portion of chromosome 15 that includes the UBE3A gene is responsible for the syndrome. In other cases, mutations in the UBE3A gene or inheritance of two copies of chromosome 15 from the father (uniparental disomy) can cause the disorder.

There is no cure for Angelman Syndrome, but early intervention with physical therapy, speech therapy, and other supportive therapies can help improve outcomes. Anticonvulsant medications may be used to manage seizures. The prognosis for individuals with Angelman Syndrome varies, but most are able to live active, fulfilling lives with appropriate support and care.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

Severe Acute Respiratory Syndrome (SARS) is a viral respiratory illness characterized by fever, cough, shortness of breath, and sometimes severe pneumonia. It is caused by the SARS coronavirus (SARS-CoV).

The syndrome is considered severe due to its potential to cause rapid spread in communities and healthcare settings, and for its high case fatality rate. In the global outbreak of 2002-2003, approximately 8,000 people were infected and nearly 800 died. Since then, no large outbreaks have been reported, although there have been isolated cases linked to laboratory accidents or animal exposures.

SARS is transmitted through close contact with an infected person's respiratory droplets, such as when they cough or sneeze. It can also be spread by touching a surface contaminated with the virus and then touching the mouth, nose, or eyes. Healthcare workers and others in close contact with infected individuals are at higher risk of infection.

Preventive measures include good personal hygiene, such as frequent handwashing, wearing masks and other protective equipment when in close contact with infected individuals, and practicing respiratory etiquette (covering the mouth and nose when coughing or sneezing). Infected individuals should be isolated and receive appropriate medical care to help manage their symptoms and prevent transmission to others.

Restless Legs Syndrome (RLS) is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs. The condition worsens during periods of rest, particularly when lying or sitting.

The symptoms typically include:

1. An uncontrollable need or urge to move the legs to relieve uncomfortable sensations such as crawling, creeping, tingling, pulling, or painful feelings.
2. Symptoms begin or intensify during rest or inactivity.
3. Symptoms are partially or totally relieved by movement, such as walking or stretching, at least as long as the activity continues.
4. Symptoms are worse in the evening or night, often leading to disturbed sleep.

The exact cause of RLS is unknown, but it may be related to abnormalities in the brain's dopamine pathways that control muscle movements. It can also be associated with certain medical conditions like iron deficiency, kidney disease, diabetes, and pregnancy. Treatment often involves addressing any underlying conditions and using medications to manage symptoms.

Job Syndrome is a rare primary immunodeficiency disorder, also known as Hyper-IgE Syndrome (HIES). It is characterized by the triad of recurrent staphylococcal skin abscesses, recurrent pulmonary infections, and elevated serum IgE levels.

The condition was first described in 1966 by Dr. Angelo A. Pedrioli et al., in a patient with eczema, recurrent staphylococcal abscesses, and severe lung infections, whose name was later used to describe the syndrome (Job's Syndrome).

The clinical features of Job Syndrome include:

1. Recurrent skin abscesses and boils, often on the face, neck, and upper extremities.
2. Cold-stimulated erythema (cold-induced urticaria) and recurrent herpes simplex infections.
3. Recurrent pulmonary infections, such as pneumonia, bronchitis, and lung abscesses.
4. High levels of IgE antibodies in the blood (hyper-IgE).
5. Characteristic facial features, including a broad nasal bridge, deep-set eyes, and prognathism (protruding jaw).
6. Scoliosis, joint hypermobility, and connective tissue abnormalities.
7. Increased susceptibility to fungal infections, such as candidiasis.
8. Bone fractures and osteopenia.

The genetic basis of Job Syndrome is a mutation in the STAT3 gene, which encodes a transcription factor that regulates immune responses, cell growth, and differentiation. The diagnosis of Job Syndrome is based on clinical criteria and laboratory tests, including IgE levels and genetic testing for STAT3 mutations.

Treatment of Job Syndrome includes antibiotics for bacterial infections, antifungal agents for fungal infections, and prophylactic antibiotics to prevent recurrent infections. In addition, immunoglobulin replacement therapy may be used to boost the patient's immune system.

Job Syndrome is a rare genetic disorder that affects multiple organ systems, including the immune system, bones, and connective tissue. Early diagnosis and treatment can improve outcomes and quality of life for affected individuals.

Wiskott-Aldrich Syndrome (WAS) is a rare X-linked recessive primary immunodeficiency disorder characterized by the triad of microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations in the WAS gene, which encodes the Wiskott-Aldrich syndrome protein (WASp), a key regulator of actin cytoskeleton reorganization in hematopoietic cells.

The clinical features of WAS include:

1. Microthrombocytopenia: This is characterized by small platelet size and low platelet count, leading to an increased risk of bleeding.
2. Eczema: This is a chronic inflammatory skin disorder that can cause itching, redness, and scaly patches on the skin.
3. Recurrent infections: Patients with WAS are susceptible to bacterial, viral, and fungal infections due to impaired immune function.

Other clinical manifestations of WAS may include autoimmune disorders, lymphoma, and inflammatory bowel disease. The severity of the disease can vary widely among patients, ranging from mild to severe. Treatment options for WAS include hematopoietic stem cell transplantation (HSCT), gene therapy, and supportive care measures such as antibiotics, immunoglobulin replacement therapy, and platelet transfusions.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Paraneoplastic syndromes refer to a group of rare disorders that are caused by an abnormal immune system response to a cancerous (malignant) tumor. These syndromes are characterized by symptoms or signs that do not result directly from the growth of the tumor itself, but rather from substances produced by the tumor or the body's immune system in response to the tumor.

Paraneoplastic syndromes can affect various organs and systems in the body, including the nervous system, endocrine system, skin, and joints. Examples of paraneoplastic syndromes include Lambert-Eaton myasthenic syndrome (LEMS), which affects nerve function and causes muscle weakness; cerebellar degeneration, which can cause difficulty with coordination and balance; and dermatomyositis, which is an inflammatory condition that affects the skin and muscles.

Paraneoplastic syndromes can occur in association with a variety of different types of cancer, including lung cancer, breast cancer, ovarian cancer, and lymphoma. Treatment typically involves addressing the underlying cancer, as well as managing the symptoms of the paraneoplastic syndrome.

Sweet syndrome, also known as acute febrile neutrophilic dermatosis, is a skin condition characterized by the rapid onset of painful, red, and swollen skin lesions. The lesions are often accompanied by fever and elevated white blood cell count, particularly an increase in neutrophils.

The medical definition of Sweet syndrome includes the following criteria:

1. Abrupt onset of painful, erythematous (red), and edematous (swollen) papules, plaques, or nodules.
2. Fever greater than 38°C (100.4°F).
3. Leukocytosis with a predominance of neutrophils in the peripheral blood.
4. Histopathological evidence of a dense dermal infiltrate of neutrophils without evidence of vasculitis.
5. Rapid response to systemic corticosteroids.

Sweet syndrome can be associated with various medical conditions, such as infections, malignancies, and inflammatory diseases, or it can occur without an identifiable underlying cause (idiopathic).

Acquired Immunodeficiency Syndrome (AIDS) is a chronic, life-threatening condition caused by the Human Immunodeficiency Virus (HIV). AIDS is the most advanced stage of HIV infection, characterized by the significant weakening of the immune system, making the person more susceptible to various opportunistic infections and cancers.

The medical definition of AIDS includes specific criteria based on CD4+ T-cell count or the presence of certain opportunistic infections and diseases. According to the Centers for Disease Control and Prevention (CDC), a person with HIV is diagnosed with AIDS when:

1. The CD4+ T-cell count falls below 200 cells per cubic millimeter of blood (mm3) - a normal range is typically between 500 and 1,600 cells/mm3.
2. They develop one or more opportunistic infections or cancers that are indicative of advanced HIV disease, regardless of their CD4+ T-cell count.

Some examples of these opportunistic infections and cancers include:

* Pneumocystis pneumonia (PCP)
* Candidiasis (thrush) affecting the esophagus, trachea, or lungs
* Cryptococcal meningitis
* Toxoplasmosis of the brain
* Cytomegalovirus disease
* Kaposi's sarcoma
* Non-Hodgkin's lymphoma
* Invasive cervical cancer

It is important to note that with appropriate antiretroviral therapy (ART), people living with HIV can maintain their CD4+ T-cell counts, suppress viral replication, and prevent the progression to AIDS. Early diagnosis and consistent treatment are crucial for managing HIV and improving life expectancy and quality of life.

Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.

Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.

Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.

It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.

Churg-Strauss syndrome (CSS), also known as eosinophilic granulomatosis with polyangiitis (EGPA), is a rare autoimmune disorder characterized by inflammation of small- to medium-sized blood vessels (vasculitis) and the presence of eosinophils, a type of white blood cell. The syndrome typically affects multiple organ systems, including the respiratory tract, peripheral nerves, skin, heart, and kidneys.

The classic triad of symptoms includes asthma, allergies, and peripheral blood eosinophilia (high levels of eosinophils in the blood). Other common features include sinusitis, rhinitis, cough, shortness of breath, skin rashes, neuropathy (nerve damage), and cardiac involvement.

The exact cause of Churg-Strauss syndrome is not well understood, but it is believed to involve an abnormal immune response in genetically susceptible individuals. Treatment typically involves the use of immunosuppressive medications to control inflammation and prevent organ damage. Corticosteroids are often used as a first-line therapy, while other agents such as cyclophosphamide or rituximab may be added for more severe cases.

Sturge-Weber syndrome is a rare neurocutaneous disorder characterized by the combination of a facial port-wine birthmark and neurological abnormalities. The facial birthmark, which is typically located on one side of the face, occurs due to the malformation of small blood vessels (capillaries) in the skin and eye.

Neurological features often include seizures that begin in infancy, muscle weakness or paralysis on one side of the body (hemiparesis), developmental delay, and intellectual disability. These neurological symptoms are caused by abnormal blood vessel formation in the brain (leptomeningeal angiomatosis) leading to increased pressure, reduced blood flow, and potential damage to the brain tissue.

Sturge-Weber syndrome can also affect the eyes, with glaucoma being a common occurrence due to increased pressure within the eye. Early diagnosis and appropriate management of this condition are crucial for improving the quality of life and reducing potential complications.

Budd-Chiari syndrome is a rare condition characterized by the obstruction of the hepatic veins, which are the blood vessels that carry blood from the liver to the heart. This obstruction can be caused by blood clots, tumors, or other abnormalities, and it can lead to a backflow of blood in the liver, resulting in various symptoms such as abdominal pain, swelling, and liver enlargement. In severe cases, Budd-Chiari syndrome can cause liver failure and other complications if left untreated. The diagnosis of this condition typically involves imaging tests such as ultrasound, CT scan, or MRI, and treatment may include anticoagulation therapy, thrombolytic therapy, or surgical intervention to remove the obstruction.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

Chediak-Higashi Syndrome is a rare autosomal recessive disorder characterized by partial albinism, photophobia, bleeding diathesis, recurrent infections, and progressive neurological degeneration. It is caused by mutations in the LYST gene, which leads to abnormalities in lysosomes, melanosomes, and neutrophil granules. The disorder is named after two Mexican hematologists, Dr. Chediak and Dr. Higashi, who first described it in 1952.

The symptoms of Chediak-Higashi Syndrome typically appear in early childhood and include light skin and hair, blue or gray eyes, and a sensitivity to light. Affected individuals may also have bleeding problems due to abnormal platelets, and they are prone to recurrent bacterial infections, particularly of the skin, gums, and respiratory system.

The neurological symptoms of Chediak-Higashi Syndrome can include poor coordination, difficulty walking, and seizures. The disorder can also affect the immune system, leading to an accelerated phase known as the "hemophagocytic syndrome," which is characterized by fever, enlarged liver and spleen, and abnormal blood counts.

There is no cure for Chediak-Higashi Syndrome, and treatment typically focuses on managing the symptoms of the disorder. This may include antibiotics to treat infections, medications to control bleeding, and physical therapy to help with mobility issues. In some cases, bone marrow transplantation may be recommended as a potential cure for the disorder.

Wolff-Parkinson-White (WPW) Syndrome is a heart condition characterized by the presence of an accessory pathway or abnormal electrical connection between the atria (the upper chambers of the heart) and ventricles (the lower chambers of the heart). This accessory pathway allows electrical impulses to bypass the normal conduction system, leading to a shorter PR interval and a "delta wave" on the electrocardiogram (ECG), which is the hallmark of WPW Syndrome.

Individuals with WPW Syndrome may experience no symptoms or may have palpitations, rapid heartbeat (tachycardia), or episodes of atrial fibrillation. In some cases, WPW Syndrome can lead to more serious heart rhythm disturbances and may require treatment, such as medication, catheter ablation, or in rare cases, surgery.

It is important to note that not all individuals with WPW Syndrome will experience symptoms or complications, and many people with this condition can lead normal, active lives with appropriate monitoring and management.

"Facies" is a medical term that refers to the typical appearance of a person or part of the body, particularly the face, which may provide clues about their underlying medical condition or genetic background. A specific facies is often associated with certain syndromes or disorders. For example, a "downsyndrome facies" refers to the distinctive facial features commonly found in individuals with Down syndrome, such as a flattened nasal bridge, almond-shaped eyes, and an upward slant to the eyelids.

It's important to note that while facies can provide valuable diagnostic information, it should be used in conjunction with other clinical findings and genetic testing to make a definitive diagnosis. Additionally, facies should be described objectively and without judgment, as they are simply physical characteristics associated with certain medical conditions.

Kallmann Syndrome is a genetic condition that is characterized by hypogonadotropic hypogonadism (reduced or absent function of the gonads (ovaries or testes) due to deficient secretion of pituitary gonadotropins) and anosmia or hyposmia (reduced or absent sense of smell). It is caused by abnormal migration of neurons that produce gonadotropin-releasing hormone (GnRH) during fetal development, which results in decreased production of sex hormones and delayed or absent puberty.

Kallmann Syndrome can also be associated with other symptoms such as color vision deficiency, hearing loss, renal agenesis, and neurological defects. It is typically inherited in an autosomal dominant or X-linked recessive pattern, and diagnosis usually involves a combination of clinical evaluation, hormonal testing, and genetic analysis. Treatment may include hormone replacement therapy to induce puberty and maintain sexual function, as well as management of associated symptoms.

Sick Sinus Syndrome (SSS) is a term used to describe a group of abnormal heart rhythm disturbances that originates in the sinoatrial node (the natural pacemaker of the heart). This syndrome is characterized by impaired functioning of the sinoatrial node, resulting in various abnormalities such as sinus bradycardia (abnormally slow heart rate), sinus arrest (complete cessation of sinus node activity), and/or sinoatrial exit block (failure of the electrical impulse to leave the sinus node and spread to the atria).

People with SSS may experience symptoms such as palpitations, dizziness, fatigue, shortness of breath, or syncope (fainting) due to inadequate blood supply to the brain caused by slow heart rate. The diagnosis of SSS is typically made based on the patient's symptoms and the results of an electrocardiogram (ECG), Holter monitoring, or event recorder that shows evidence of abnormal sinus node function. Treatment options for SSS may include lifestyle modifications, medications, or implantation of a pacemaker to regulate the heart rate.

Stevens-Johnson Syndrome (SJS) is a rare, serious and potentially life-threatening skin reaction that usually occurs as a reaction to medication but can also be caused by an infection. SJS is characterized by the detachment of the epidermis (top layer of the skin) from the dermis (the layer underneath). It primarily affects the mucous membranes, such as those lining the eyes, mouth, throat, and genitals, causing painful raw areas that are prone to infection.

SJS is considered a severe form of erythema multiforme (EM), another skin condition, but it's much more serious and can be fatal. The symptoms of SJS include flu-like symptoms such as fever, sore throat, and fatigue, followed by a red or purplish rash that spreads and blisters, eventually leading to the detachment of the top layer of skin.

The exact cause of Stevens-Johnson Syndrome is not always known, but it's often triggered by medications such as antibiotics, anti-convulsants, nonsteroidal anti-inflammatory drugs (NSAIDs), and antiretroviral drugs. Infections caused by herpes simplex virus or Mycoplasma pneumoniae can also trigger SJS.

Treatment for Stevens-Johnson Syndrome typically involves hospitalization, supportive care, wound care, and medication to manage pain and prevent infection. Discontinuing the offending medication is crucial in managing this condition. In severe cases, patients may require treatment in a burn unit or intensive care unit.

Sezary Syndrome is a rare and aggressive form of cutaneous T-cell lymphoma (CTCL), a type of cancer that involves the skin's immune system. It is characterized by the presence of malignant T-lymphocytes, known as Sezary cells, in the blood, skin, and lymph nodes.

Sezary cells are typically found in large numbers in the peripheral blood, and they have a distinctive appearance with convoluted or "cerebriform" nuclei. These cells can infiltrate the skin, leading to erythroderma (a widespread redness and scaling of the skin), pruritus (severe itching), alopecia (hair loss), and lymphadenopathy (swelling of the lymph nodes).

Sezary Syndrome is often treatment-resistant, and its prognosis is generally poor. Treatment options may include chemotherapy, radiation therapy, photopheresis, immunotherapy, and stem cell transplantation.

Felty syndrome is a rare complication that can occur in people with long-standing chronic inflammatory arthritis, specifically those with rheumatoid arthritis. It is characterized by the triad of rheumatoid arthritis, an enlarged spleen (splenomegaly), and a decrease in white blood cell count (neutropenia). The neutropenia can lead to an increased risk of infections. Additionally, some people with Felty syndrome may also develop other symptoms such as fatigue, weakness, fever, and a purple rash on the legs (purpura).

The exact cause of Felty syndrome is not fully understood, but it is thought to be related to an abnormal immune response in people with rheumatoid arthritis. Treatment typically involves medications to manage the symptoms and control the underlying rheumatoid arthritis, such as disease-modifying anti-rheumatic drugs (DMARDs) and/or immunosuppressive therapies. In some cases, removal of the spleen (splenectomy) may be recommended to help improve the neutropenia and reduce the risk of infections.

Medical Definition:

"Risk factors" are any attribute, characteristic or exposure of an individual that increases the likelihood of developing a disease or injury. They can be divided into modifiable and non-modifiable risk factors. Modifiable risk factors are those that can be changed through lifestyle choices or medical treatment, while non-modifiable risk factors are inherent traits such as age, gender, or genetic predisposition. Examples of modifiable risk factors include smoking, alcohol consumption, physical inactivity, and unhealthy diet, while non-modifiable risk factors include age, sex, and family history. It is important to note that having a risk factor does not guarantee that a person will develop the disease, but rather indicates an increased susceptibility.

Usher Syndromes are a group of genetic disorders that are characterized by hearing loss and visual impairment due to retinitis pigmentosa. They are the most common cause of deafblindness in developed countries. There are three types of Usher Syndromes (Type 1, Type 2, and Type 3) which differ in the age of onset, severity, and progression of hearing loss and vision loss.

Type 1 Usher Syndrome is the most severe form, with profound deafness present at birth or within the first year of life, and retinitis pigmentosa leading to significant vision loss by the teenage years. Type 2 Usher Syndrome is characterized by moderate to severe hearing loss beginning in childhood and vision loss due to retinitis pigmentosa starting in adolescence or early adulthood. Type 3 Usher Syndrome has progressive hearing loss that begins in adolescence and vision loss due to retinitis pigmentosa starting in the third decade of life.

The diagnosis of Usher Syndromes is based on a combination of clinical examination, audiological evaluation, and genetic testing. There is currently no cure for Usher Syndromes, but various assistive devices and therapies can help manage the symptoms and improve quality of life.

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

Alagille syndrome is a genetic disorder that affects the liver, heart, and other parts of the body. It is also known as Arteriohepatic dysplasia or Alagille-Watson syndrome. The main features of this condition include:

1. Liver disease: Most individuals with Alagille syndrome have a liver disorder called bile duct paucity, which means that the small tubes (bile ducts) inside the liver that carry bile to the intestine are narrowed or missing. This can lead to liver scarring and damage over time.
2. Heart defects: About 90% of people with Alagille syndrome have a congenital heart defect, such as pulmonary stenosis (narrowing of the pulmonary valve) or tetralogy of Fallot (a combination of four heart defects).
3. Skeletal abnormalities: Many individuals with Alagille syndrome have distinctive facial features and skeletal changes, such as a broad forehead, wide-set eyes, a pointed chin, and butterfly-shaped vertebrae in the spine.
4. Eye problems: Approximately 90% of people with Alagille syndrome have eye abnormalities, including posterior embryotoxon (a narrowing of the drainage angle of the eye) or retinal changes.
5. Kidney issues: Up to 40% of individuals with Alagille syndrome may experience kidney problems, such as renal dysplasia (abnormal kidney development) or vesicoureteral reflux (backflow of urine from the bladder into the ureters).
6. Other features: Some people with Alagille syndrome may have growth delays, cognitive impairment, or hearing loss.

Alagille syndrome is caused by mutations in one of two genes: JAG1 or NOTCH2. These genes play crucial roles in embryonic development and tissue growth. Inheritance of Alagille syndrome is autosomal dominant, meaning that a person has a 50% chance of inheriting the condition if one parent carries the mutated gene. However, about 30-40% of cases result from new (de novo) mutations and have no family history of the disorder.

Treatment outcome is a term used to describe the result or effect of medical treatment on a patient's health status. It can be measured in various ways, such as through symptoms improvement, disease remission, reduced disability, improved quality of life, or survival rates. The treatment outcome helps healthcare providers evaluate the effectiveness of a particular treatment plan and make informed decisions about future care. It is also used in clinical research to compare the efficacy of different treatments and improve patient care.

Bardet-Biedl Syndrome (BBD) is a rare genetic disorder that affects multiple organs and systems in the body. It is characterized by a combination of symptoms including:

1. Obesity: Excessive weight gain, especially around the trunk and face, is a common feature of BBS.
2. Polydactyly: Extra fingers or toes are present at birth in about 70% of individuals with BBS.
3. Retinal degeneration: Progressive loss of vision due to retinal dystrophy is a hallmark of the syndrome.
4. Renal abnormalities: Structural and functional kidney problems, such as cysts, nephronophthisis, and chronic kidney disease, are common in BBS patients.
5. Learning difficulties: Intellectual disability or developmental delay is often present in individuals with BBS.
6. Hypogonadism: Abnormalities of the reproductive system, such as small genitals, delayed puberty, and infertility, are common in both males and females with BBS.
7. Other features: Additional symptoms may include speech and language delay, behavioral problems, diabetes mellitus, heart defects, and hearing loss.

Bardet-Biedl Syndrome is inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. The disorder affects both males and females equally and has a prevalence of about 1 in 100,000-160,000 individuals worldwide.

Ectopic ACTH syndrome is a medical condition characterized by the excessive production of adrenocorticotropic hormone (ACTH) from a source outside of the pituitary gland, typically from a tumor in another part of the body. The most common sources of ectopic ACTH are small-cell lung carcinomas, but it can also occur with other types of tumors such as thymic carcinoids, pancreatic islet cell tumors, and bronchial carcinoids.

The excessive production of ACTH leads to an overproduction of cortisol from the adrenal glands, resulting in a constellation of symptoms known as Cushing's syndrome. These symptoms can include weight gain, muscle weakness, thinning of the skin, easy bruising, mood changes, and high blood pressure, among others.

Ectopic ACTH syndrome is typically more severe than pituitary-dependent Cushing's syndrome, and it may be more difficult to diagnose and treat due to the underlying tumor causing the excessive ACTH production. Treatment usually involves removing the tumor or controlling its growth, as well as managing the symptoms of Cushing's syndrome with medications that block cortisol production or action.

Peutz-Jeghers Syndrome (PJS) is a rare genetic disorder characterized by the development of benign tumors called hamartomas in the gastrointestinal tract and pigmented macules on the skin and mucous membranes. The syndrome is caused by mutations in the STK11/LKB1 gene, which is involved in regulating cell growth and division.

Individuals with PJS have an increased risk of developing various types of cancer, including gastrointestinal tract cancers, breast cancer, ovarian cancer, lung cancer, and cervical cancer. The diagnosis of PJS is typically made based on the presence of characteristic clinical features, such as multiple pigmented macules on the skin and mucous membranes, and a history of benign gastrointestinal tumors or family history of PJS.

Management of PJS involves regular surveillance for gastrointestinal tumors and cancer screening, as well as genetic counseling and testing for family members who may be at risk. Treatment options depend on the location and size of the tumors and may include endoscopic removal or surgery.

Hemorrhagic Fever with Renal Syndrome (HFRS) is a group of clinically similar diseases caused by several distinct but related orthohantaviruses. The viruses are primarily transmitted to humans through inhalation of aerosols contaminated with excreta of infected rodents.

The clinical presentation of HFRS includes four phases: febrile, hypotensive, oliguric (decreased urine output), and polyuric (increased urine output). The febrile phase is characterized by fever, headache, myalgia, and abdominal pain. In the hypotensive phase, patients may experience a sudden drop in blood pressure, shock, and acute kidney injury leading to oliguria. The oliguric phase can last for days to weeks, followed by a polyuric phase where urine output increases significantly.

Additional symptoms of HFRS may include nausea, vomiting, conjunctival injection (redness), photophobia (sensitivity to light), and petechial rash (small red or purple spots on the skin caused by bleeding under the skin). In severe cases, HFRS can lead to acute renal failure, hypovolemic shock, and even death.

The severity of HFRS varies depending on the specific virus causing the infection. The most severe form of HFRS is caused by the Hantaaan virus, which has a mortality rate of up to 15%. Other viruses that can cause HFRS include Dobrava-Belgrade, Seoul, and Puumala viruses, with lower mortality rates ranging from less than 1% to about 5%.

Prevention measures for HFRS include reducing exposure to rodents and their excreta through proper food storage, waste disposal, and rodent control. Vaccines are available in some countries to prevent HFRS caused by specific viruses.

Oculocerebrorenal syndrome, also known as Lowe syndrome, is a rare genetic disorder that primarily affects the eyes, brain, and kidneys. It's characterized by congenital cataracts, intellectual disability, and progressive kidney disease. The condition is caused by mutations in the OCRL gene, which provides instructions for making an enzyme called phosphatidylinositol 4,5-bisphosphate 5-phosphatase. This enzyme plays a crucial role in cell signaling and trafficking within cells.

The symptoms of oculocerebrorenal syndrome can vary widely among affected individuals, but they typically include:

* Eye abnormalities: Most people with the condition are born with congenital cataracts that need to be removed soon after birth. Other eye problems may include glaucoma, strabismus (crossed eyes), and optic nerve damage, which can lead to vision loss.
* Brain abnormalities: Intellectual disability is a common feature of the condition, ranging from mild to severe. Affected individuals may also have delayed development, behavioral problems, and difficulty with coordination and movement.
* Kidney abnormalities: Progressive kidney disease is a hallmark of oculocerebrorenal syndrome. The kidneys may become enlarged and scarred, leading to kidney failure in some cases. Other kidney-related symptoms can include proteinuria (protein in the urine), hematuria (blood in the urine), and high blood pressure.

There is no cure for oculocerebrorenal syndrome, but treatments can help manage the symptoms. For example, cataract surgery can improve vision, while medications and dietary changes can help manage kidney disease. Early intervention and supportive care can also help improve outcomes for affected individuals.

Cockayne Syndrome is a rare genetic disorder that affects the body's ability to repair DNA. It is characterized by progressive growth failure, neurological abnormalities, and premature aging. The syndrome is typically diagnosed in childhood and is often associated with photosensitivity, meaning that affected individuals are unusually sensitive to sunlight.

Cockayne Syndrome is caused by mutations in either the ERCC6 or ERCC8 gene, which are involved in the repair of damaged DNA. There are two types of Cockayne Syndrome: Type I and Type II. Type I is the more common form and is characterized by normal development during the first year of life followed by progressive growth failure, neurological abnormalities, and premature aging. Type II is a more severe form that is apparent at birth or within the first few months of life and is associated with severe developmental delays, intellectual disability, and early death.

There is no cure for Cockayne Syndrome, and treatment is focused on managing symptoms and improving quality of life. This may include physical therapy, occupational therapy, speech therapy, and special education services. In some cases, medications may be used to treat specific symptoms such as seizures or gastrointestinal problems.

Smith-Lemli-Opitz syndrome (SLOS) is a genetic disorder that affects the development of multiple body systems. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase, which is needed for the production of cholesterol in the body.

The symptoms of SLOS can vary widely in severity, but often include developmental delays, intellectual disability, low muscle tone (hypotonia), feeding difficulties, and behavioral problems. Physical abnormalities may also be present, such as cleft palate, heart defects, extra fingers or toes (polydactyly), and genital abnormalities in males.

SLOS is an autosomal recessive disorder, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. It is typically diagnosed through genetic testing and biochemical analysis of blood or body fluids. Treatment for SLOS may include cholesterol supplementation, special education services, and management of associated medical conditions.

Craniofacial abnormalities refer to a group of birth defects that affect the development of the skull and face. These abnormalities can range from mild to severe and may involve differences in the shape and structure of the head, face, and jaws, as well as issues with the formation of facial features such as the eyes, nose, and mouth.

Craniofacial abnormalities can be caused by genetic factors, environmental influences, or a combination of both. Some common examples of craniofacial abnormalities include cleft lip and palate, craniosynostosis (premature fusion of the skull bones), and hemifacial microsomia (underdevelopment of one side of the face).

Treatment for craniofacial abnormalities may involve a team of healthcare professionals, including plastic surgeons, neurosurgeons, orthodontists, speech therapists, and other specialists. Treatment options may include surgery, bracing, therapy, and other interventions to help improve function and appearance.

Wiskott-Aldrich Syndrome Protein (WASP) is a intracellular protein that plays a critical role in the regulation of actin cytoskeleton reorganization. It is encoded by the WAS gene, which is located on the X chromosome. WASP is primarily expressed in hematopoietic cells, including platelets, T cells, B cells, and natural killer cells.

WASP functions as a downstream effector of several signaling pathways that regulate actin dynamics, including the CDC42-MRCK pathway. When activated, WASP interacts with actin-related proteins (ARPs) and profilin to promote the nucleation and polymerization of actin filaments. This leads to changes in cell shape, motility, and cytoskeletal organization that are essential for various immune functions, such as T cell activation, antigen presentation, phagocytosis, and platelet aggregation.

Mutations in the WAS gene can lead to Wiskott-Aldrich syndrome (WAS), a rare X-linked recessive disorder characterized by microthrombocytopenia, eczema, recurrent infections, and increased risk of autoimmunity and lymphoma. The severity of the disease varies depending on the specific mutation and its impact on WASP function.

Stiff-Person Syndrome (SPS) is a rare neurological disorder characterized by fluctuating muscle rigidity in the trunk and limbs and a heightened sensitivity to stimuli such as touch, sound, and emotional distress, which can trigger muscle spasms. The symptoms can significantly affect a person's ability to perform daily activities and can lead to frequent falls and injuries. SPS is often associated with antibodies against glutamic acid decarboxylase (GAD), an enzyme involved in the production of a neurotransmitter called gamma-aminobutyric acid (GABA) that helps regulate muscle movement. The exact cause of SPS remains unknown, but it is thought to involve both autoimmune and genetic factors.

Short Bowel Syndrome (SBS) is a malabsorption disorder that occurs when a significant portion of the small intestine has been removed or is functionally lost due to surgical resection, congenital abnormalities, or other diseases. The condition is characterized by an inability to absorb sufficient nutrients, water, and electrolytes from food, leading to diarrhea, malnutrition, dehydration, and weight loss.

The small intestine plays a crucial role in digestion and absorption of nutrients, and when more than 50% of its length is affected, the body's ability to absorb essential nutrients becomes compromised. The severity of SBS depends on the extent of the remaining small intestine, the presence or absence of the ileocecal valve (a sphincter that separates the small and large intestines), and the functionality of the residual intestinal segments.

Symptoms of Short Bowel Syndrome include:

1. Chronic diarrhea
2. Steatorrhea (fatty stools)
3. Dehydration
4. Weight loss
5. Fat-soluble vitamin deficiencies (A, D, E, and K)
6. Electrolyte imbalances
7. Malnutrition
8. Anemia
9. Bacterial overgrowth in the small intestine
10. Osteoporosis due to calcium and vitamin D deficiencies

Treatment for Short Bowel Syndrome typically involves a combination of nutritional support, medication, and sometimes surgical interventions. Nutritional management includes oral or enteral feeding with specially formulated elemental or semi-elemental diets, as well as parenteral nutrition (intravenous feeding) to provide essential nutrients that cannot be absorbed through the gastrointestinal tract. Medications such as antidiarrheals, H2 blockers, proton pump inhibitors, and antibiotics may also be used to manage symptoms and prevent complications. In some cases, intestinal transplantation might be considered for severe SBS patients who do not respond to other treatments.

Behçet syndrome is a rare inflammatory disease that can cause symptoms in various parts of the body. It's characterized by recurrent mouth sores (aphthous ulcers), genital sores, and inflammation of the eyes (uveitis). The condition may also cause skin lesions, joint pain and swelling, and inflammation of the digestive tract, brain, or spinal cord.

The exact cause of Behçet syndrome is not known, but it's thought to be an autoimmune disorder, in which the body's immune system mistakenly attacks its own healthy cells and tissues. The condition tends to affect men more often than women and typically develops during a person's 20s or 30s.

There is no cure for Behçet syndrome, but treatments can help manage symptoms and prevent complications. Treatment options may include medications such as corticosteroids, immunosuppressants, and biologics to reduce inflammation, as well as pain relievers and other supportive therapies.

A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.

Zollinger-Ellison Syndrome (ZES) is a rare digestive disorder that is characterized by the development of one or more gastrin-secreting tumors, also known as gastrinomas. These tumors are usually found in the pancreas and duodenum (the first part of the small intestine). Gastrinomas produce excessive amounts of the hormone gastrin, which leads to the overproduction of stomach acid.

The increased stomach acid can cause severe peptic ulcers, often multiple or refractory to treatment, in the duodenum and jejunum (the second part of the small intestine). ZES may also result in diarrhea due to the excess acid irritating the intestines. In some cases, gastrinomas can be malignant and metastasize to other organs such as the liver and lymph nodes.

The diagnosis of Zollinger-Ellison Syndrome typically involves measuring serum gastrin levels and performing a secretin stimulation test. Imaging tests like CT scans, MRI, or endoscopic ultrasounds may be used to locate the tumors. Treatment usually includes medications to reduce stomach acid production (such as proton pump inhibitors) and surgery to remove the gastrinomas when possible.

Serotonin syndrome is a potentially life-threatening condition that arises from excessive serotonergic activity in the central nervous system (CNS) and peripheral nervous system. It is typically caused by the interaction of medications, illicit substances, or dietary supplements that increase serotonin levels or enhance serotonin receptor sensitivity.

The diagnostic criteria for serotonin syndrome include:

1. Presence of a serotonergic medication or drug known to cause the syndrome
2. Development of neuromuscular abnormalities, such as hyperreflexia, myoclonus, tremor, rigidity, or akathisia
3. Autonomic dysfunction, including diaphoresis, tachycardia, hypertension, dilated pupils, and hyperthermia
4. Mental status changes, such as agitation, confusion, hallucinations, or coma
5. Symptoms that develop rapidly, usually within hours of a change in serotonergic medication or dosage

Serotonin syndrome can range from mild to severe, with the most severe cases potentially leading to respiratory failure, rhabdomyolysis, disseminated intravascular coagulation (DIC), and death. Treatment typically involves discontinuation of the offending agent(s), supportive care, and pharmacologic interventions such as cyproheptadine or cooling measures for hyperthermia.

Hepatopulmonary syndrome (HPS) is a pulmonary vascular disorder characterized by the abnormal dilatation of the blood vessels in the lungs and intrapulmonary shunting, leading to hypoxemia (low levels of oxygen in the blood). This condition primarily affects individuals with liver diseases, particularly those with cirrhosis.

HPS is defined by the following triad of symptoms:

1. Liver dysfunction or portal hypertension
2. Intrapulmonary vascular dilatations
3. Hypoxemia (PaO2 ≤ 80 mmHg or alveolar-arterial oxygen gradient ≥ 15 mmHg in room air)

The pathophysiology of HPS involves the production and release of vasoactive substances from the liver, which cause dilation of the pulmonary vessels. This results in ventilation-perfusion mismatch and right-to-left shunting, leading to hypoxemia. Clinical manifestations include shortness of breath, platypnea (worsening dyspnea while in the upright position), orthodeoxia (decrease in oxygen saturation when changing from supine to upright position), digital clubbing, and cyanosis.

Diagnosis is confirmed through contrast-enhanced echocardiography or macroaggregated albumin lung scan, which demonstrates intrapulmonary shunting. Treatment of HPS primarily focuses on managing the underlying liver disease and improving hypoxemia with supplemental oxygen or other supportive measures. In some cases, liver transplantation may be considered as a definitive treatment option for both the liver disease and HPS.

Orofaciodigital syndromes (OFDS) are a group of rare genetic disorders that primarily affect the development of the face, mouth, and digits. The term "orofaciodigital" describes the specific areas of the body that are impacted: oro (mouth), facio (face), and digital (fingers and toes).

There are several types of OFDS, each with its own set of symptoms and genetic cause. Some common features across various types of OFDS include:

1. Oral manifestations: These may include cleft lip and/or palate, tongue abnormalities, such as a lobulated or bifid tongue, and dental anomalies.
2. Facial manifestations: These can range from mild to severe and may include hypertelorism (widely spaced eyes), broad nasal bridge, low-set ears, and a thin upper lip.
3. Digital manifestations: Abnormalities of the fingers and toes may include brachydactyly (shortened digits), clinodactyily (curved digits), syndactyly (fused digits), or extra digits (polydactyly). Nail abnormalities might also be present.

The different types of OFDS are caused by mutations in various genes, such as OFD1, CCDC8, and TMEM216. The specific genetic cause determines the type of OFDS and its associated symptoms.

It is essential to consult with a medical professional or genetic counselor for an accurate diagnosis and personalized management plan if you suspect or have been diagnosed with an orofaciodigital syndrome.

Proteus Syndrome is a rare genetic disorder characterized by progressive overgrowth of skin, bones, muscles, and other tissues. It is caused by a mutation in the AKT1 gene, which regulates cell growth and division. The disorder is named after the Greek sea-god Proteus, who could change his shape at will, as people with this condition often have highly variable and asymmetric features.

The symptoms of Proteus Syndrome can vary widely from person to person, but may include:

1. Overgrowth of skin, which can lead to the formation of thickened, rough, or irregular areas of skin (known as "cerebriform" skin) and deep creases or folds.
2. Asymmetric overgrowth of bones, muscles, and other tissues, leading to differences in size and shape between the two sides of the body.
3. The formation of benign tumors (such as lipomas and lymphangiomas) and abnormal blood vessels.
4. Abnormalities of the brain, eyes, and other organs.
5. Increased risk of developing certain types of cancer.

Proteus Syndrome is typically diagnosed based on a combination of clinical features, medical imaging, and genetic testing. There is no cure for the disorder, but treatment is focused on managing symptoms and preventing complications. This may involve surgery to remove tumors or correct bone deformities, physical therapy to improve mobility and strength, and medications to control pain and other symptoms.

Duane Retraction Syndrome (DRS) is a congenital eye movement disorder, characterized by limited abduction (lateral movement away from the nose) of the affected eye, and on attempted adduction (movement towards the nose), the eye retracts into the orbit and the lid narrows. It is often accompanied by other eye alignment or vision anomalies. The exact cause is not known, but it is believed to be a result of abnormal development of the cranial nerves that control eye movement during fetal development. DRS is usually idiopathic, but it can also be associated with other congenital anomalies. It is typically diagnosed in early childhood and managed with a combination of observation, prism glasses, and/or surgery, depending on the severity and impact on vision.

Immunologic deficiency syndromes refer to a group of disorders characterized by defective functioning of the immune system, leading to increased susceptibility to infections and malignancies. These deficiencies can be primary (genetic or congenital) or secondary (acquired due to environmental factors, medications, or diseases).

Primary immunodeficiency syndromes (PIDS) are caused by inherited genetic mutations that affect the development and function of immune cells, such as T cells, B cells, and phagocytes. Examples include severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, and X-linked agammaglobulinemia.

Secondary immunodeficiency syndromes can result from various factors, including:

1. HIV/AIDS: Human Immunodeficiency Virus infection leads to the depletion of CD4+ T cells, causing profound immune dysfunction and increased vulnerability to opportunistic infections and malignancies.
2. Medications: Certain medications, such as chemotherapy, immunosuppressive drugs, and long-term corticosteroid use, can impair immune function and increase infection risk.
3. Malnutrition: Deficiencies in essential nutrients like protein, vitamins, and minerals can weaken the immune system and make individuals more susceptible to infections.
4. Aging: The immune system naturally declines with age, leading to an increased incidence of infections and poorer vaccine responses in older adults.
5. Other medical conditions: Chronic diseases such as diabetes, cancer, and chronic kidney or liver disease can also compromise the immune system and contribute to immunodeficiency syndromes.

Immunologic deficiency syndromes require appropriate diagnosis and management strategies, which may include antimicrobial therapy, immunoglobulin replacement, hematopoietic stem cell transplantation, or targeted treatments for the underlying cause.

Complex Regional Pain Syndromes (CRPS) are a group of chronic pain conditions that typically affect a limb after an injury or trauma. They are characterized by prolonged, severe and often debilitating pain that is out of proportion to the severity of the initial injury. CRPS is divided into two types:

1. CRPS-1 (also known as Reflex Sympathetic Dystrophy): This type occurs without a clearly defined nerve injury. It usually develops after an illness or injury that didn't directly damage the nerves.
2. CRPS-2 (also known as Causalgia): This type is associated with a confirmed nerve injury.

The symptoms of CRPS include:

* Continuous, burning or throbbing pain in the affected limb
* Changes in skin temperature, color and texture
* Swelling and stiffness in the joints
* Decreased range of motion and weakness in the affected limb
* Sensitivity to touch or cold
* Abnormal sweating pattern in the affected area
* Changes in nail and hair growth patterns

The exact cause of CRPS is not fully understood, but it is thought to be related to a dysfunction in the nervous system's response to injury. Treatment for CRPS typically involves a combination of medications, physical therapy, and psychological support. In some cases, more invasive treatments such as nerve blocks or spinal cord stimulation may be recommended.

Goldenhar Syndrome, also known as Oculoauriculovertebral Spectrum (OAVS), is a rare congenital condition characterized by a combination of abnormalities affecting the development of the eyes, ears, jaw, and spine. The specific features of this syndrome can vary significantly from one individual to another, but they often include underdevelopment or absence of one ear (microtia) or both ears (anotia), benign growths or cysts in the ear (preauricular tags or sinuses), abnormalities in the formation of the jaw (hemifacial microsomia), and a variety of eye problems such as small eyes (microphthalmia) or anophthalmia (absence of one or both eyes). In addition, some individuals with Goldenhar Syndrome may have vertebral abnormalities, including scoliosis or spina bifida.

The exact cause of Goldenhar Syndrome is not fully understood, but it is believed to be related to disturbances in the development of the first and second branchial arches during embryonic development. These structures give rise to the facial bones, muscles, ears, and nerves. In some cases, genetic factors may play a role, but most cases appear to occur spontaneously, without a clear family history.

Treatment for Goldenhar Syndrome typically involves a multidisciplinary approach, with input from specialists such as plastic surgeons, ophthalmologists, audiologists, and orthodontists. Treatment may include reconstructive surgery to address facial asymmetry or ear abnormalities, hearing aids or other devices to improve hearing, and corrective lenses or surgery to address eye problems. Regular monitoring and follow-up care are also important to ensure optimal outcomes and to address any new issues that may arise over time.

Respiratory Distress Syndrome (RDS), Newborn is a common lung disorder in premature infants. It occurs when the lungs lack a substance called surfactant, which helps keep the tiny air sacs in the lungs open. This results in difficulty breathing and oxygenation, causing symptoms such as rapid, shallow breathing, grunting noises, flaring of the nostrils, and retractions (the skin between the ribs pulls in with each breath). RDS is more common in infants born before 34 weeks of gestation and is treated with surfactant replacement therapy, oxygen support, and mechanical ventilation if necessary. In severe cases, it can lead to complications such as bronchopulmonary dysplasia or even death.

Neuroleptic Malignant Syndrome (NMS) is a rare but potentially life-threatening condition characterized by a group of symptoms that may occur together in individuals taking antipsychotic medications, or in some cases, after the abrupt discontinuation of dopamine agonists.

The four primary features of NMS are:

1. High fever (temperature greater than 38°C/100.4°F)
2. Muscle rigidity or stiffness
3. Altered mental status, which can range from confusion and agitation to a coma
4. Autonomic instability, which can cause symptoms such as irregular pulse or blood pressure, rapid heartbeat, sweating, and unstable body temperature.

Other possible symptoms of NMS may include:

- Tremors or involuntary movements (dyskinesias)
- Labored breathing (dyspnea)
- Changes in heart rate and rhythm (arrhythmias)
- Elevated white blood cell count (leukocytosis)
- Metabolic abnormalities, such as increased creatine phosphokinase levels, elevated liver enzymes, and myoglobinuria.

NMS is a medical emergency that requires immediate treatment, typically involving the discontinuation of the offending medication, supportive care (such as hydration, temperature control, and management of autonomic instability), and sometimes medications to reduce muscle rigidity and lower fever. The exact cause of NMS remains unclear, but it is thought to be related to a dysregulation in dopamine receptors in the brain.

Costello Syndrome is a rare genetic disorder characterized by distinctive facial features, cardiac defects, developmental delay, and intellectual disability. It is caused by mutations in the HRAS gene, which provides instructions for making a protein that is part of a signaling pathway known as the Ras/MAPK pathway, involved in cell growth, division, and survival.

The symptoms of Costello Syndrome can vary widely among affected individuals, but common features include:

* A characteristic facial appearance with full cheeks, wide-spaced eyes, a broad nasal bridge, and a prominent forehead
* Loose, wrinkled skin around the hands and feet
* Curved pinky fingers (clinodactyly)
* Extra skin on the soles of the feet (plantar keratosis)
* Heart defects, such as hypertrophic cardiomyopathy or pulmonary stenosis
* Developmental delay and intellectual disability
* A predisposition to developing certain types of cancer, particularly rhabdomyosarcoma and bladder carcinoma

Costello Syndrome is typically diagnosed based on a combination of clinical features, genetic testing, and family history. There is no cure for the condition, but management is focused on addressing individual symptoms as they arise. This may include medications to manage heart problems, physical therapy to help with developmental delays, and regular cancer screening.

Klippel-Feil Syndrome is a rare congenital condition characterized by the abnormal fusion or joining of two or more spinal bones (vertebrae) in the neck (cervical region). This fusion typically occurs during fetal development and can affect one or more levels of the cervical spine. The syndrome is usually diagnosed in early childhood, although milder cases may not be detected until later in life.

The medical definition of Klippel-Feil Syndrome includes the following major features:

1. Congenital fusion (synostosis) of two or more cervical vertebrae: This fusion can result in restricted mobility and increased stiffness in the neck, which may lead to a decreased range of motion and potential complications such as spinal cord injuries.
2. Short neck: A shortened neck is often observed in individuals with Klippel-Feil Syndrome due to the fusion of vertebrae. This feature can be associated with a low hairline at the back of the head (occipital low hairline) and limited mobility in the upper spine.
3. Webbed neck: Some individuals with Klippel-Feil Syndrome may have a webbed or wide neck, which is characterized by excess skin and soft tissue in the neck region. This feature can be mild or severe and may impact the overall appearance of the individual.

In addition to these primary features, Klippel-Feil Syndrome can also be associated with several secondary symptoms and conditions, including:

1. Spinal deformities: Scoliosis (lateral curvature of the spine) or kyphosis (excessive forward curvature of the spine) may occur due to the abnormal spinal development.
2. Neurological complications: Compression or irritation of the spinal cord or nerves can lead to various neurological symptoms, such as numbness, tingling, or weakness in the arms and legs.
3. Genitourinary anomalies: Approximately 30% of individuals with Klippel-Feil Syndrome have genitourinary abnormalities, including kidney malformations, horseshoe kidney, or abnormalities in the reproductive organs.
4. Hearing impairment: Up to 50% of individuals with Klippel-Feil Syndrome may experience hearing loss or other auditory issues due to inner ear anomalies.
5. Craniofacial abnormalities: Some individuals with Klippel-Feil Syndrome may have craniofacial abnormalities, such as cleft palate, low-set ears, or a small jaw (micrognathia).
6. Cardiovascular anomalies: Approximately 10% of individuals with Klippel-Feil Syndrome have cardiovascular abnormalities, including heart defects or blood vessel malformations.

The exact cause of Klippel-Feil Syndrome is not fully understood, but it is believed to result from abnormal development of the cervical vertebrae during embryonic growth. In some cases, it may be associated with genetic mutations or chromosomal abnormalities; however, in many instances, no specific cause can be identified.

Diagnosis of Klippel-Feil Syndrome typically involves a combination of physical examination and imaging studies, such as X-rays, CT scans, or MRI exams. These tests help to assess the structure and alignment of the cervical spine and identify any associated abnormalities.

Treatment for Klippel-Feil Syndrome depends on the severity of symptoms and the presence of any complications. In some cases, no specific treatment may be necessary beyond regular monitoring by a healthcare provider. However, if neck pain, limited mobility, or other issues are present, various therapies and interventions may be recommended, including:

1. Physical therapy: Exercises and stretches can help improve strength, flexibility, and range of motion in the neck and surrounding muscles.
2. Pain management: Medications, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or opioids, may be prescribed to help alleviate pain and discomfort. In some cases, injections of corticosteroids or other medications may be used to target specific areas of inflammation or pain.
3. Surgery: If severe deformities, instability, or neurological complications are present, surgery may be necessary to stabilize the spine and prevent further damage. Various surgical techniques, such as spinal fusion or decompression procedures, may be used depending on the specific needs of the patient.
4. Lifestyle modifications: Avoiding activities that exacerbate symptoms, maintaining good posture, and using supportive devices, such as neck braces or pillows, can help manage symptoms and prevent further injury.
5. Regular follow-up care: Regular checkups with a healthcare provider are essential to monitor the progression of Klippel-Feil Syndrome and address any new or worsening symptoms as they arise.

Subclavian Steal Syndrome is a medical condition that occurs when there is a narrowing or blockage (stenosis) in the subclavian artery, usually at or near its origin from the aorta. This stenosis causes reduced blood flow to the ipsilateral upper extremity. The decreased blood supply to the arm leads to reversal of flow in the vertebral artery, which normally supplies blood to the brain and neck structures. As a result, the brain may receive insufficient blood flow, causing symptoms such as dizziness, lightheadedness, syncope (fainting), or transient ischemic attacks (TIAs or "mini-strokes").

The syndrome is called 'subclavian steal' because the vertebral artery essentially "steals" blood from the circle of Willis (the network of arteries at the base of the brain) to compensate for the reduced flow in the subclavian artery. The condition most commonly affects the left subclavian artery, but it can also occur on the right side or both sides.

Subclavian Steal Syndrome is typically diagnosed through a combination of physical examination, medical history, and imaging tests such as Doppler ultrasound, CT angiography (CTA), or magnetic resonance angiography (MRA). Treatment options include surgical bypass, endovascular stenting, or medication to manage symptoms and reduce the risk of stroke.

Hantavirus Pulmonary Syndrome (HPS) is a severe, sometimes fatal, respiratory disease in humans caused by infection with hantaviruses. These viruses are spread to people through the aerosolized urine, droppings, or saliva of infected rodents. The virus cannot be transmitted between humans unless there is direct contact with an infected person's blood or bodily fluids. Early symptoms include fatigue, fever, and muscle aches, followed by coughing and shortness of breath as the lungs fill with fluid leading to severe respiratory distress. It's crucial to seek immediate medical attention if you suspect HPS because it can progress rapidly to serious illness or death within days.

DNA Mutational Analysis is a laboratory test used to identify genetic variations or changes (mutations) in the DNA sequence of a gene. This type of analysis can be used to diagnose genetic disorders, predict the risk of developing certain diseases, determine the most effective treatment for cancer, or assess the likelihood of passing on an inherited condition to offspring.

The test involves extracting DNA from a patient's sample (such as blood, saliva, or tissue), amplifying specific regions of interest using polymerase chain reaction (PCR), and then sequencing those regions to determine the precise order of nucleotide bases in the DNA molecule. The resulting sequence is then compared to reference sequences to identify any variations or mutations that may be present.

DNA Mutational Analysis can detect a wide range of genetic changes, including single-nucleotide polymorphisms (SNPs), insertions, deletions, duplications, and rearrangements. The test is often used in conjunction with other diagnostic tests and clinical evaluations to provide a comprehensive assessment of a patient's genetic profile.

It is important to note that not all mutations are pathogenic or associated with disease, and the interpretation of DNA Mutational Analysis results requires careful consideration of the patient's medical history, family history, and other relevant factors.

Hereditary neoplastic syndromes refer to genetic disorders that predispose affected individuals to develop tumors or cancers. These syndromes are caused by inherited mutations in specific genes that regulate cell growth and division. As a result, cells may divide and grow uncontrollably, leading to the formation of benign or malignant tumors.

Examples of hereditary neoplastic syndromes include:

1. Hereditary breast and ovarian cancer syndrome (HBOC): This syndrome is caused by mutations in the BRCA1 or BRCA2 genes, which increase the risk of developing breast, ovarian, and other cancers.
2. Lynch syndrome: Also known as hereditary non-polyposis colorectal cancer (HNPCC), this syndrome is caused by mutations in DNA mismatch repair genes, leading to an increased risk of colon, endometrial, and other cancers.
3. Li-Fraumeni syndrome: This syndrome is caused by mutations in the TP53 gene, which increases the risk of developing a wide range of cancers, including breast, brain, and soft tissue sarcomas.
4. Familial adenomatous polyposis (FAP): This syndrome is caused by mutations in the APC gene, leading to the development of numerous colon polyps that can become cancerous if not removed.
5. Neurofibromatosis type 1 (NF1): This syndrome is caused by mutations in the NF1 gene and is characterized by the development of benign tumors called neurofibromas on the nerves and skin.
6. Von Hippel-Lindau disease (VHL): This syndrome is caused by mutations in the VHL gene, leading to an increased risk of developing various types of tumors, including kidney, pancreas, and adrenal gland tumors.

Individuals with hereditary neoplastic syndromes often have a higher risk of developing cancer than the general population, and they may require more frequent screening and surveillance to detect cancers at an early stage when they are more treatable.

A fatal outcome is a term used in medical context to describe a situation where a disease, injury, or illness results in the death of an individual. It is the most severe and unfortunate possible outcome of any medical condition, and is often used as a measure of the severity and prognosis of various diseases and injuries. In clinical trials and research, fatal outcome may be used as an endpoint to evaluate the effectiveness and safety of different treatments or interventions.

Thoracic outlet syndrome (TOS) is a group of disorders that occur when the blood vessels or nerves in the thoracic outlet, the space between the collarbone (clavicle) and the first rib, become compressed. This compression can cause pain, numbness, and weakness in the neck, shoulder, arm, and hand.

There are three types of TOS:

1. Neurogenic TOS: This is the most common type and occurs when the nerves (brachial plexus) that pass through the thoracic outlet become compressed, causing symptoms such as pain, numbness, tingling, and weakness in the arm and hand.
2. Venous TOS: This type occurs when the veins that pass through the thoracic outlet become compressed, leading to swelling, pain, and discoloration of the arm.
3. Arterial TOS: This is the least common type and occurs when the arteries that pass through the thoracic outlet become compressed, causing decreased blood flow to the arm, which can result in pain, numbness, and coldness in the arm and hand.

TOS can be caused by a variety of factors, including an extra rib (cervical rib), muscle tightness or spasm, poor posture, repetitive motions, trauma, or tumors. Treatment for TOS may include physical therapy, pain management, and in some cases, surgery.

Hermanski-Pudlak Syndrome (HPS) is a rare genetic disorder characterized by the triad of albinism, bleeding disorders, and lysosomal storage disease. It is caused by mutations in any one of several genes involved in biogenesis of lysosome-related organelles (LROs), such as melanosomes in melanocytes, platelet dense granules, and lung lamellar bodies.

The albinism in HPS results from abnormal melanosome biogenesis, leading to decreased pigmentation in the skin, hair, and eyes. The bleeding disorder is due to defective platelet dense granules, which are necessary for normal clotting function. This can result in prolonged bleeding times and easy bruising.

The lysosomal storage disease component of HPS is characterized by the accumulation of ceroid lipofuscin within LROs, leading to progressive damage to affected tissues. The most common form of HPS (HPS-1) also involves pulmonary fibrosis, which can lead to respiratory failure and death in the third or fourth decade of life.

There are currently seven known subtypes of HPS, each caused by mutations in different genes involved in LRO biogenesis. The clinical features and severity of HPS can vary widely between subtypes and even within families with the same genetic mutation.

Pregnancy is a physiological state or condition where a fertilized egg (zygote) successfully implants and grows in the uterus of a woman, leading to the development of an embryo and finally a fetus. This process typically spans approximately 40 weeks, divided into three trimesters, and culminates in childbirth. Throughout this period, numerous hormonal and physical changes occur to support the growing offspring, including uterine enlargement, breast development, and various maternal adaptations to ensure the fetus's optimal growth and well-being.

Retrospective studies, also known as retrospective research or looking back studies, are a type of observational study that examines data from the past to draw conclusions about possible causal relationships between risk factors and outcomes. In these studies, researchers analyze existing records, medical charts, or previously collected data to test a hypothesis or answer a specific research question.

Retrospective studies can be useful for generating hypotheses and identifying trends, but they have limitations compared to prospective studies, which follow participants forward in time from exposure to outcome. Retrospective studies are subject to biases such as recall bias, selection bias, and information bias, which can affect the validity of the results. Therefore, retrospective studies should be interpreted with caution and used primarily to generate hypotheses for further testing in prospective studies.

White Spot Syndrome Virus 1 (WSSV-1) is not typically recognized as a human or mammalian pathogen. It is primarily known to affect crustaceans, particularly penaeid shrimps. WSSV-1 is a large double-stranded DNA virus from the family Nimaviridae and genus Whispovirus. The virus is highly virulent and can cause rapid death in infected animals, resulting in significant economic losses in aquaculture industries.

The name "White Spot Syndrome Virus" refers to the characteristic white spots that appear on the exoskeleton of infected shrimps before their death. It's essential to clarify that WSSV-1 is not a human health concern, and its medical definition is primarily relevant in the context of veterinary medicine and aquaculture.

LEOPARD syndrome is a rare genetic disorder that is characterized by multiple lentigines (freckle-like spots), electrocardiographic abnormalities, ocular hypertelorism (wide-set eyes), pulmonic stenosis (narrowing of the pulmonary valve opening), abnormal genitalia, retardation of growth, and deafness. It is caused by mutations in the PTPN11 gene, which provides instructions for making a protein called SHP-2. This protein plays important roles in signaling pathways that control various cellular functions, such as cell growth and division. The signs and symptoms of LEOPARD syndrome can vary widely among affected individuals, even among members of the same family. Treatment is typically focused on managing the specific features of the condition in each individual.

A case-control study is an observational research design used to identify risk factors or causes of a disease or health outcome. In this type of study, individuals with the disease or condition (cases) are compared with similar individuals who do not have the disease or condition (controls). The exposure history or other characteristics of interest are then compared between the two groups to determine if there is an association between the exposure and the disease.

Case-control studies are often used when it is not feasible or ethical to conduct a randomized controlled trial, as they can provide valuable insights into potential causes of diseases or health outcomes in a relatively short period of time and at a lower cost than other study designs. However, because case-control studies rely on retrospective data collection, they are subject to biases such as recall bias and selection bias, which can affect the validity of the results. Therefore, it is important to carefully design and conduct case-control studies to minimize these potential sources of bias.

Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.

There are numerous types of congenital hand deformities, some of which include:

1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.

Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.

Eye abnormalities refer to any structural or functional anomalies that affect the eye or its surrounding tissues. These abnormalities can be present at birth (congenital) or acquired later in life due to various factors such as injury, disease, or aging. Some examples of eye abnormalities include:

1. Strabismus: Also known as crossed eyes, strabismus is a condition where the eyes are misaligned and point in different directions.
2. Nystagmus: This is an involuntary movement of the eyes that can be horizontal, vertical, or rotatory.
3. Cataracts: A cataract is a clouding of the lens inside the eye that can cause vision loss.
4. Glaucoma: This is a group of eye conditions that damage the optic nerve and can lead to vision loss.
5. Retinal disorders: These include conditions such as retinal detachment, macular degeneration, and diabetic retinopathy.
6. Corneal abnormalities: These include conditions such as keratoconus, corneal ulcers, and Fuchs' dystrophy.
7. Orbital abnormalities: These include conditions such as orbital tumors, thyroid eye disease, and Graves' ophthalmopathy.
8. Ptosis: This is a condition where the upper eyelid droops over the eye.
9. Color blindness: A condition where a person has difficulty distinguishing between certain colors.
10. Microphthalmia: A condition where one or both eyes are abnormally small.

These are just a few examples of eye abnormalities, and there are many others that can affect the eye and its functioning. If you suspect that you have an eye abnormality, it is important to consult with an ophthalmologist for proper diagnosis and treatment.

Li-Fraumeni Syndrome (LFS) is a rare, hereditary cancer predisposition syndrome. It is characterized by a high risk of developing multiple types of cancers throughout an individual's lifetime. The condition is caused by mutations in the TP53 gene, which plays a crucial role in suppressing tumor growth and maintaining genomic stability.

Individuals with Li-Fraumeni Syndrome have an increased risk of developing various malignancies, including:

1. Sarcomas (soft tissue and bone cancers) - most commonly occurring before the age of 45
2. Breast cancer - often diagnosed at a younger age than sporadic cases
3. Leukemias (blood cancers)
4. Brain tumors, particularly gliomas and medulloblastomas
5. Adrenocortical carcinoma (a rare type of cancer affecting the adrenal glands)
6. Other cancers such as lung, melanoma, and gastrointestinal malignancies

Li-Fraumeni Syndrome is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the mutated gene from an affected parent. However, de novo (new) mutations can also occur, resulting in individuals with LFS who do not have a family history of the condition.

Due to the high risk of cancer development, individuals with Li-Fraumeni Syndrome require close surveillance and early intervention strategies to manage their cancer risk effectively. Regular screenings, such as magnetic resonance imaging (MRI), computerized tomography (CT) scans, and mammograms, are often recommended for early detection and treatment of potential malignancies.

Hamartoma syndrome, multiple is a genetic disorder also known as Cowden syndrome. It is characterized by the growth of hamartomas, which are benign tumors made up of an overgrowth of normal cells and tissues. These hamartomas can develop in various parts of the body, including the skin, mucous membranes, gastrointestinal tract, breasts, thyroid gland, and other organs.

People with multiple hamartoma syndrome are at an increased risk of developing certain types of cancer, particularly breast, thyroid, endometrial, and colon cancers. They may also have benign growths in the skin and mucous membranes, such as trichilemmomas (benign tumors of the hair follicle) and papillomatous papules (benign growths with a wart-like appearance).

Multiple hamartoma syndrome is caused by mutations in the PTEN gene, which is a tumor suppressor gene. This means that the gene normally helps to prevent cells from growing and dividing too rapidly or in an uncontrolled way. When the PTEN gene is mutated, it can lead to the development of hamartomas and increase the risk of cancer.

The diagnosis of multiple hamartoma syndrome is typically based on a combination of clinical features, family history, and genetic testing. Treatment may involve regular cancer screening and surveillance, as well as surgical removal of benign or malignant growths as needed.

Asperger Syndrome is a developmental disorder that is part of the autism spectrum disorders (ASDs). It is characterized by significant difficulties in social interaction and nonverbal communication, as well as restricted and repetitive patterns of behavior and interests. However, people with Asperger Syndrome usually have normal or above-average intelligence and language development.

The following are some of the diagnostic criteria for Asperger Syndrome according to the Diagnostic and Statistical Manual of Mental Disorders (DSM-5):

1. Persistent deficits in social communication and social interaction across multiple contexts, including:
* Deficits in social-emotional reciprocity;
* Deficits in nonverbal communicative behaviors used for social interaction;
* Deficits in developing, maintaining, and understanding relationships.
2. Restricted, repetitive patterns of behavior, interests, or activities, as manifested by at least two of the following:
* Stereotyped or repetitive motor movements, use of objects, or speech;
* Insistence on sameness, inflexible adherence to routines, or ritualized patterns of verbal or nonverbal behavior;
* Highly restricted, fixated interests that are abnormal in intensity or focus;
* Hyper- or hyporeactivity to sensory input or unusual interest in sensory aspects of the environment.
3. Symptoms must be present in early childhood but may not become fully manifest until social demands exceed limited capacities or may be masked by learned strategies in later life.
4. Symptoms cause clinically significant impairment in social, occupational, or other important areas of functioning.
5. These disturbances are not better explained by intellectual disability (intellectual developmental disorder) or global developmental delay.

It's worth noting that the term "Asperger Syndrome" is no longer used in the DSM-5, and it has been subsumed under the broader category of autism spectrum disorder. However, many people still use the term to describe a particular presentation of ASD with normal language development and intelligence.

Möbius syndrome is a rare neurological disorder characterized by congenital facial palsy and abducens palsy, which are paralyses of the muscles that control lateral movement of the eye and facial expression. The condition is present at birth and is thought to be caused by underdevelopment of the cranial nerves (VI and VII) during embryonic development.

Individuals with Möbius syndrome may have a variety of symptoms, including:

* Inability to move the eyes from side to side
* Absent or weak facial expressions
* Difficulty with sucking, swallowing, and speaking
* Dental abnormalities
* Hearing loss
* Limb abnormalities

Möbius syndrome is typically diagnosed based on physical examination and medical history. There is no cure for the condition, but treatment may include physical therapy, speech therapy, and surgical interventions to improve function and appearance. The exact cause of Möbius syndrome is not known, but it is believed to be related to genetic or environmental factors during fetal development.

Hepatorenal syndrome (HRS) is a serious complication that primarily affects people with advanced liver disease, particularly those with cirrhosis. It's characterized by functional renal failure in the absence of structural kidney damage. This means that the kidneys stop working properly, but if they were to be removed and examined, there would be no obvious physical reason for their failure.

The medical definition of hepatorenal syndrome includes specific diagnostic criteria:

1. Presence of liver cirrhosis or fulminant hepatic failure.
2. Evidence of impaired liver function, such as ascites (accumulation of fluid in the abdomen) and elevated levels of bilirubin in the blood.
3. Functional renal failure, defined as a serum creatinine level greater than 1.5 mg/dL or a doubling of the baseline creatinine to a level above 1.5 mg/dL in patients with previously normal renal function.
4. Absence of structural kidney damage, confirmed by a normal urinalysis (no protein or red blood cells in the urine), a high urine sodium concentration (greater than 10 mEq/L), and a low fractional excretion of sodium (less than 1%).
5. No alternative explanation for renal failure, such as sepsis, hypovolemia, or use of nephrotoxic medications.

Hepatorenal syndrome is further divided into two types:

- Type 1 HRS: This form is characterized by a rapid and severe decline in kidney function, with a doubling of the serum creatinine to a level greater than 2.5 mg/dL within two weeks. Type 1 HRS has a poor prognosis, with a median survival time of about two weeks if left untreated.
- Type 2 HRS: This form is characterized by a more gradual and modest decline in kidney function, with a serum creatinine level persistently above 1.5 mg/dL. Type 2 HRS has a better prognosis than type 1, but it still significantly worsens the overall survival of patients with liver cirrhosis.

Hepatorenal syndrome is a serious complication of liver cirrhosis and other forms of advanced liver disease. It requires prompt recognition and treatment to improve outcomes and prevent further deterioration of kidney function.

Waardenburg Syndrome is a genetic disorder that affects the development of melanin, a pigment responsible for hair, skin, and eye color. Named after the Dutch ophthalmologist Petrus Waardenburg who first described it in 1907, this syndrome is characterized by distinctive physical features and hearing loss.

There are four types of Waardenburg Syldrome (WS1, WS2, WS3, and WS4), each with varying degrees of symptoms. Common features include:

1. Differential coloring of the hair, skin, and eyes (poliosis, vitiligo, and heterochromia)
2. Distinctive facial features (wide-set eyes, broad nasal root, and a high arched or cleft palate)
3. Hearing loss, which can be unilateral (one-sided) or bilateral (both-sided), conductive, sensorineural, or mixed
4. Pigmentary changes in the iris, such as different colors between the eyes or within one eye
5. Sometimes, musculoskeletal abnormalities and/or developmental delays

WS1 and WS2 are more common than WS3 and WS4. The genetic causes of Waardenburg Syndrome involve mutations in several different genes associated with melanin production and transport. These include PAX3, MITF, SNAI2, EDN3, and EDNRB.

Diagnosis is typically based on clinical findings, including physical features and hearing tests. Genetic testing can confirm the diagnosis and help determine the specific type of Waardenburg Syndrome. Treatment usually involves addressing individual symptoms, such as using hearing aids or cochlear implants for hearing loss and managing any skin or eye concerns.

Systemic Inflammatory Response Syndrome (SIRS) is not a specific disease, but rather a systemic response to various insults or injuries within the body. It is defined as a combination of clinical signs that indicate a widespread inflammatory response in the body. According to the American College of Chest Physicians/Society of Critical Care Medicine (ACCP/SCCM) consensus criteria, SIRS is characterized by the presence of at least two of the following conditions:

1. Body temperature >38°C (100.4°F) or 90 beats per minute
3. Respiratory rate >20 breaths per minute or arterial carbon dioxide tension (PaCO2) 12,000 cells/mm3, 10% bands (immature white blood cells)

SIRS can be caused by various factors, including infections (sepsis), trauma, burns, pancreatitis, and immune-mediated reactions. Prolonged SIRS may lead to organ dysfunction and failure, which can progress to severe sepsis or septic shock if not treated promptly and effectively.

Sleep apnea syndromes refer to a group of disorders characterized by abnormal breathing patterns during sleep. These patterns can result in repeated pauses in breathing (apneas) or shallow breaths (hypopneas), causing interruptions in sleep and decreased oxygen supply to the body. There are three main types of sleep apnea syndromes:

1. Obstructive Sleep Apnea (OSA): This is the most common form, caused by the collapse or obstruction of the upper airway during sleep, often due to relaxation of the muscles in the throat and tongue.

2. Central Sleep Apnea (CSA): This type is less common and results from the brain's failure to send proper signals to the breathing muscles. It can be associated with conditions such as heart failure, stroke, or certain medications.

3. Complex/Mixed Sleep Apnea: In some cases, a person may experience both obstructive and central sleep apnea symptoms, known as complex or mixed sleep apnea.

Symptoms of sleep apnea syndromes can include loud snoring, excessive daytime sleepiness, fatigue, morning headaches, difficulty concentrating, and mood changes. Diagnosis typically involves a sleep study (polysomnography) to monitor breathing patterns, heart rate, brain activity, and other physiological factors during sleep. Treatment options may include lifestyle modifications, oral appliances, positive airway pressure therapy, or even surgery in severe cases.

Adie syndrome, also known as Adie's pupil or tonic pupil, is a neurological disorder that affects the autonomic nervous system and the eye. It is characterized by a pupil that is dilated and unresponsive to light, but slowly constricts when focusing on nearby objects (a phenomenon called "light-near dissociation"). This occurs due to damage to the ciliary ganglion or the short ciliary nerves, which control the size of the pupil.

Additional symptoms of Adie syndrome may include decreased deep tendon reflexes, especially in the ankles, and abnormal sweating patterns. The condition is usually not painful and does not typically affect vision, although some people with Adie syndrome may experience difficulty with reading due to the slow pupillary response.

The exact cause of Adie syndrome is unknown, but it is thought to be related to a viral infection or an autoimmune disorder. It is more common in women than men and typically occurs between the ages of 20 and 40. While there is no cure for Adie syndrome, treatment may include the use of glasses with bifocal lenses or reading glasses, as well as physical therapy to improve muscle tone and reflexes.

Follow-up studies are a type of longitudinal research that involve repeated observations or measurements of the same variables over a period of time, in order to understand their long-term effects or outcomes. In medical context, follow-up studies are often used to evaluate the safety and efficacy of medical treatments, interventions, or procedures.

In a typical follow-up study, a group of individuals (called a cohort) who have received a particular treatment or intervention are identified and then followed over time through periodic assessments or data collection. The data collected may include information on clinical outcomes, adverse events, changes in symptoms or functional status, and other relevant measures.

The results of follow-up studies can provide important insights into the long-term benefits and risks of medical interventions, as well as help to identify factors that may influence treatment effectiveness or patient outcomes. However, it is important to note that follow-up studies can be subject to various biases and limitations, such as loss to follow-up, recall bias, and changes in clinical practice over time, which must be carefully considered when interpreting the results.

Polyradiculoneuropathy is a medical term that refers to a condition affecting multiple nerve roots and peripheral nerves. It's a type of neuropathy, which is damage or disease affecting the peripheral nerves, and it involves damage to the nerve roots as they exit the spinal cord.

The term "poly" means many, "radiculo" refers to the nerve root, and "neuropathy" indicates a disorder of the nerves. Therefore, polyradiculoneuropathy implies that multiple nerve roots and peripheral nerves are affected.

This condition can result from various causes, such as infections (like Guillain-Barre syndrome), autoimmune disorders (such as lupus or rheumatoid arthritis), diabetes, cancer, or exposure to toxins. Symptoms may include weakness, numbness, tingling, or pain in the limbs, which can progress and become severe over time. Proper diagnosis and management are crucial for improving outcomes and preventing further nerve damage.

Prospective studies, also known as longitudinal studies, are a type of cohort study in which data is collected forward in time, following a group of individuals who share a common characteristic or exposure over a period of time. The researchers clearly define the study population and exposure of interest at the beginning of the study and follow up with the participants to determine the outcomes that develop over time. This type of study design allows for the investigation of causal relationships between exposures and outcomes, as well as the identification of risk factors and the estimation of disease incidence rates. Prospective studies are particularly useful in epidemiology and medical research when studying diseases with long latency periods or rare outcomes.

Ovarian Hyperstimulation Syndrome (OHSS) is a medical condition characterized by the enlargement of the ovaries and the accumulation of fluid in the abdominal cavity, which can occur as a complication of fertility treatments that involve the use of medications to stimulate ovulation.

In OHSS, the ovaries become swollen and may contain multiple follicles (small sacs containing eggs) that have developed in response to the hormonal stimulation. This can lead to the release of large amounts of vasoactive substances, such as vascular endothelial growth factor (VEGF), which can cause increased blood flow to the ovaries and fluid leakage from the blood vessels into the abdominal cavity.

Mild cases of OHSS may cause symptoms such as bloating, abdominal pain or discomfort, nausea, and diarrhea. More severe cases can lead to more serious complications, including blood clots, kidney failure, and respiratory distress. In extreme cases, hospitalization may be necessary to manage the symptoms of OHSS and prevent further complications.

OHSS is typically managed by monitoring the patient's symptoms and providing supportive care, such as fluid replacement and pain management. In severe cases, medication or surgery may be necessary to drain excess fluid from the abdominal cavity. Preventive measures, such as adjusting the dosage of fertility medications or canceling treatment cycles, may also be taken to reduce the risk of OHSS in high-risk patients.

In the field of medicine, "time factors" refer to the duration of symptoms or time elapsed since the onset of a medical condition, which can have significant implications for diagnosis and treatment. Understanding time factors is crucial in determining the progression of a disease, evaluating the effectiveness of treatments, and making critical decisions regarding patient care.

For example, in stroke management, "time is brain," meaning that rapid intervention within a specific time frame (usually within 4.5 hours) is essential to administering tissue plasminogen activator (tPA), a clot-busting drug that can minimize brain damage and improve patient outcomes. Similarly, in trauma care, the "golden hour" concept emphasizes the importance of providing definitive care within the first 60 minutes after injury to increase survival rates and reduce morbidity.

Time factors also play a role in monitoring the progression of chronic conditions like diabetes or heart disease, where regular follow-ups and assessments help determine appropriate treatment adjustments and prevent complications. In infectious diseases, time factors are crucial for initiating antibiotic therapy and identifying potential outbreaks to control their spread.

Overall, "time factors" encompass the significance of recognizing and acting promptly in various medical scenarios to optimize patient outcomes and provide effective care.

Prevalence, in medical terms, refers to the total number of people in a given population who have a particular disease or condition at a specific point in time, or over a specified period. It is typically expressed as a percentage or a ratio of the number of cases to the size of the population. Prevalence differs from incidence, which measures the number of new cases that develop during a certain period.

Premenstrual Syndrome (PMS) is a complex of symptoms that occur in the latter part of the luteal phase (the second half) of the menstrual cycle, typically starting 5-11 days before the onset of menses, and remitting shortly after the onset of menstruation. The symptoms can be physical, psychological, or behavioral and vary from mild to severe. They include but are not limited to: bloating, breast tenderness, cramps, headaches, mood swings, irritability, depression, anxiety, fatigue, changes in appetite, and difficulty concentrating.

The exact cause of PMS is not known, but it appears to be related to hormonal changes during the menstrual cycle, particularly fluctuations in estrogen and progesterone levels. Some women may be more susceptible to these hormonal shifts due to genetic factors, neurotransmitter imbalances, or other health conditions.

Treatment for PMS often involves a combination of lifestyle changes (such as regular exercise, stress management, and dietary modifications), over-the-counter pain relievers, and, in some cases, hormonal medications or antidepressants. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.

Miller Fisher Syndrome (MFS) is a rare neurological disorder that is considered a variant of Guillain-Barré syndrome. It is characterized by the triad of symptoms including ophthalmoplegia (paralysis of the eye muscles), ataxia (loss of coordination and balance), and areflexia (absence of reflexes). Some patients may also experience weakness or paralysis in the limbs, and some cases may involve bulbar symptoms such as dysphagia (difficulty swallowing) and dysarthria (slurred speech). The syndrome is caused by an immune response that damages the nerves, and it often follows a viral infection. Treatment typically includes supportive care, plasma exchange, or intravenous immunoglobulin therapy to help reduce the severity of the symptoms.

Capillary leak syndrome (CLS) is a rare, but serious condition characterized by the abnormal leakage of plasma from the bloodstream into surrounding tissues. This occurs due to increased permeability of the capillary walls, which are the smallest blood vessels in the body that connect arterioles and venules, allowing for the exchange of nutrients, waste products, and gases between the blood and the tissues.

In CLS, the leakage of plasma leads to a rapid loss of intravascular volume, resulting in hypotension (low blood pressure), hemoconcentration (increased concentration of red blood cells due to reduced plasma volume), and edema (swelling) in various parts of the body. The fluid shift from the bloodstream to the tissues can also cause organ dysfunction and failure if not promptly treated.

The exact causes of capillary leak syndrome are not fully understood, but it can be associated with certain medical conditions, such as infections, autoimmune disorders, medications, or cancer. In some cases, CLS may occur without an identifiable underlying cause, known as idiopathic capillary leak syndrome.

Treatment for capillary leak syndrome typically involves supportive care to maintain blood pressure, replace lost fluids and electrolytes, and manage any organ dysfunction. Medications such as corticosteroids, immunoglobulins, or vasopressors may be used depending on the severity of the condition and the presence of underlying causes. In severe cases, extracorporeal membrane oxygenation (ECMO) or other intensive care interventions might be necessary to support organ function and ensure adequate blood flow.

Korsakoff syndrome is a neuropsychiatric disorder typically caused by alcohol abuse, specifically thiamine (vitamin B1) deficiency in the brain. It's often associated with Wernicke encephalopathy, and the two together are referred to as Wernicke-Korsakoff syndrome.

The main features of Korsakoff syndrome include severe memory impairment, particularly anterograde amnesia (inability to form new memories), confabulation (making up stories due to gaps in memory), and a lack of insight into their condition. Other cognitive functions like intelligence and perception are usually preserved.

The syndrome is believed to result from damage to the mammillary bodies and other structures in the diencephalon, particularly the thalamus. Treatment involves abstinence from alcohol, thiamine replacement, and a balanced diet. The prognosis varies but often includes some degree of permanent memory impairment.

Neurocutaneous syndromes are a group of rare, genetic disorders that primarily affect the nervous system and skin. These conditions are present at birth or develop in early childhood. They are characterized by the growth of benign tumors along nerve pathways (neurocutaneous) and various abnormalities of the skin, eyes, brain, spine, and other organs.

Some common examples of neurocutaneous syndromes include:

1. Neurofibromatosis type 1 (NF1): A condition characterized by multiple café-au-lait spots on the skin, freckling in the axillary and inguinal regions, and neurofibromas (benign tumors of the nerves).
2. Neurofibromatosis type 2 (NF2): A condition that primarily affects the auditory nerves and is characterized by bilateral acoustic neuromas (vestibular schwannomas), which can cause hearing loss, tinnitus, and balance problems.
3. Tuberous sclerosis complex (TSC): A condition characterized by benign tumors in various organs, including the brain, skin, heart, kidneys, and lungs. The skin manifestations include hypomelanotic macules, facial angiofibromas, and shagreen patches.
4. Sturge-Weber syndrome (SWS): A condition characterized by a port-wine birthmark on the face, which involves the trigeminal nerve distribution, and abnormal blood vessels in the brain, leading to seizures, developmental delays, and visual impairment.
5. Von Hippel-Lindau disease (VHL): A condition characterized by the growth of benign tumors in various organs, including the brain, spinal cord, kidneys, pancreas, and adrenal glands. The tumors can become malignant over time.
6. Ataxia-telangiectasia (A-T): A condition characterized by progressive ataxia (loss of coordination), oculocutaneous telangiectasias (dilated blood vessels in the skin and eyes), immune deficiency, and increased risk of cancer.

Early diagnosis and management of neurocutaneous disorders are essential to prevent complications and improve outcomes. Regular follow-up with a multidisciplinary team, including neurologists, dermatologists, ophthalmologists, geneticists, and other specialists, is necessary to monitor disease progression and provide appropriate interventions.

Gitelman Syndrome is a genetic disorder that affects the electrolyte and fluid balance in the body. It is characterized by low levels of potassium, magnesium, and chloride in the blood due to defects in the function of the distal convoluted tubule in the kidney. This results in increased urinary excretion of these ions.

The condition is caused by mutations in the SLC12A3 gene, which provides instructions for making a protein called thiazide-sensitive sodium chloride cotransporter (NCC). The NCC protein is responsible for reabsorbing sodium and chloride ions from the urine back into the bloodstream. In Gitelman Syndrome, the mutations in the SLC12A3 gene lead to reduced function of the NCC protein, resulting in increased excretion of sodium, chloride, potassium, and magnesium in the urine.

Symptoms of Gitelman Syndrome may include muscle weakness, cramps, spasms, fatigue, salt cravings, thirst, and decreased appetite. The condition is usually diagnosed in childhood or adolescence but can also present in adulthood. Treatment typically involves supplementation with potassium and magnesium to correct the electrolyte imbalances. In some cases, a medication called indapamide may be used to increase sodium reabsorption in the kidney and reduce potassium excretion.

Molecular sequence data refers to the specific arrangement of molecules, most commonly nucleotides in DNA or RNA, or amino acids in proteins, that make up a biological macromolecule. This data is generated through laboratory techniques such as sequencing, and provides information about the exact order of the constituent molecules. This data is crucial in various fields of biology, including genetics, evolution, and molecular biology, allowing for comparisons between different organisms, identification of genetic variations, and studies of gene function and regulation.

Wolfram Syndrome is a rare, progressive, genetic disorder that affects multiple organ systems, particularly the eyes, brain, endocrine system, and hearing. It is characterized by the combination of several features including diabetes insipidus (DI), diabetes mellitus (DM), optic nerve atrophy, and various neurological symptoms. The onset of this syndrome typically occurs in childhood.

The two major types of Wolfram Syndrome are WFS1 and WFS2, with WFS1 being the most common form. They are caused by mutations in different genes (WFS1 and CISD2 respectively), both of which play a role in maintaining the health of cells in the body, particularly those in the pancreas, eyes, and ears.

The symptoms of Wolfram Syndrome can vary widely among affected individuals, but often include:
- Diabetes insipidus (DI): This is characterized by excessive thirst and urination due to problems with the body's regulation of fluids.
- Diabetes mellitus (DM): This type of diabetes results from issues with insulin production or usage, leading to high blood sugar levels.
- Optic nerve atrophy: This can cause vision loss, typically starting in early childhood and progressing over time.
- Neurological symptoms: These may include hearing loss, problems with balance and coordination, difficulty swallowing, and neuropsychiatric issues such as depression and anxiety.

Currently, there is no cure for Wolfram Syndrome, and treatment primarily focuses on managing the individual symptoms of the disorder.

A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Acquired hyperostosis syndrome is not a widely recognized medical term, and it may refer to several different conditions that involve abnormal bone growth or hardening. One possible condition that might be referred to as acquired hyperostosis syndrome is diffuse idiopathic skeletal hyperostosis (DISH).

Diffuse idiopathic skeletal hyperostosis is a non-inflammatory condition that affects the spine and other parts of the body. It is characterized by the calcification and ossification of ligaments and entheses, which are the sites where tendons or ligaments attach to bones. This process can lead to the formation of bony spurs or growths, called osteophytes, along the spine and other affected areas.

The exact cause of DISH is not known, but it is more common in older adults, males, and people with certain medical conditions such as diabetes and obesity. The symptoms of DISH can vary widely depending on the severity and location of the bone growths. Some people may experience stiffness, pain, or limited mobility in the affected areas, while others may have no symptoms at all.

It is important to note that there are many other conditions that can cause abnormal bone growth or hardening, so a proper medical evaluation is necessary to determine the underlying cause of any symptoms. If you have concerns about acquired hyperostosis syndrome or any other medical condition, you should speak with your healthcare provider for further guidance.

CREST syndrome is a subtype of a autoimmune connective tissue disorder called scleroderma (systemic sclerosis). The name "CREST" is an acronym that stands for the following five features:

* Calcinosis: The formation of calcium deposits in the skin and underlying tissues, which can cause painful ulcers.
* Raynaud's phenomenon: A condition in which the blood vessels in the fingers and toes constrict in response to cold or stress, causing the digits to turn white or blue and become numb or painful.
* Esophageal dysmotility: Difficulty swallowing due to weakened muscles in the esophagus.
* Sclerodactyly: Thickening and tightening of the skin on the fingers.
* Telangiectasias: Dilated blood vessels near the surface of the skin, causing red spots or lines.

It's important to note that not everyone with CREST syndrome will have all five of these features, and some people may have additional symptoms not included in the acronym. Additionally, CREST syndrome is a chronic condition that can cause a range of complications, including lung fibrosis, kidney problems, and digital ulcers. Treatment typically focuses on managing specific symptoms and slowing the progression of the disease.

Wasting syndrome is a condition characterized by significant weight loss and muscle wasting, often accompanied by weakness and decreased appetite. It can be caused by various underlying medical conditions, including HIV/AIDS, cancer, tuberculosis, and other chronic infections or diseases that cause chronic inflammation. In some cases, wasting syndrome can also result from severe malnutrition or gastrointestinal disorders that affect nutrient absorption.

The diagnostic criteria for wasting syndrome vary depending on the underlying cause, but generally, it is defined as a significant loss of body weight (typically more than 10% of body weight) and muscle mass over a period of several months. In addition to weight loss and muscle wasting, individuals with wasting syndrome may also experience fatigue, weakness, decreased immune function, and impaired physical functioning.

Wasting syndrome can have serious consequences on an individual's health and quality of life, and it is often associated with increased morbidity and mortality. Treatment typically involves addressing the underlying cause of the wasting syndrome, as well as providing nutritional support to help individuals regain weight and muscle mass.

Superior Vena Cava Syndrome (SVCS) is a medical condition characterized by the obstruction of the superior vena cava (SVC), which is the large vein that carries blood from the upper body to the heart. This obstruction can be caused by cancerous tumors, thrombosis (blood clots), or other compressive factors.

The obstruction results in the impaired flow of blood from the head, neck, arms, and upper chest, leading to a variety of symptoms such as swelling of the face, neck, and upper extremities; shortness of breath; cough; chest pain; and distended veins visible on the skin surface. In severe cases, SVCS can cause life-threatening complications like cerebral edema (swelling of the brain) or pulmonary edema (fluid accumulation in the lungs).

Immediate medical attention is required for individuals with suspected SVCS to prevent further complications and to manage the underlying cause. Treatment options may include chemotherapy, radiation therapy, anticoagulation therapy, or surgery, depending on the etiology of the obstruction.

Severe Acute Respiratory Syndrome (SARS) is a viral respiratory illness caused by the SARS coronavirus (SARS-CoV). This virus is a member of the Coronaviridae family and is thought to be transmitted most readily through close person-to-person contact via respiratory droplets produced when an infected person coughs or sneezes.

The SARS outbreak began in southern China in 2002 and spread to several other countries before it was contained. The illness causes symptoms such as fever, chills, and body aches, which progress to a dry cough and sometimes pneumonia. Some people also report diarrhea. In severe cases, the illness can cause respiratory failure or death.

It's important to note that SARS is not currently a global health concern, as there have been no known cases since 2004. However, it remains a significant example of how quickly and widely a new infectious disease can spread in today's interconnected world.

Human chromosome pair 22 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosome pair 22 is one of the 22 autosomal pairs of human chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome 22 is the second smallest human chromosome, with each arm of the chromosome designated as p and q. The short arm is labeled "p," and the long arm is labeled "q."

Chromosome 22 contains several genes that are associated with various genetic disorders, including DiGeorge syndrome, velocardiofacial syndrome, and cat-eye syndrome, which result from deletions or duplications of specific regions on the chromosome. Additionally, chromosome 22 is the location of the NRXN1 gene, which has been associated with an increased risk for autism spectrum disorder (ASD) and schizophrenia when deleted or disrupted.

Understanding the genetic makeup of human chromosome pair 22 can provide valuable insights into human genetics, evolution, and disease susceptibility, as well as inform medical diagnoses, treatments, and research.

Munchausen syndrome is a psychological disorder where an individual repeatedly and deliberately acts to simulate physical or psychological symptoms or signs, feigns disease, illness, or injury, or induces or fabricates disease, illness, or injury in themselves, with the intention to deceive others into thinking that they are ill. The person may exaggerate or lie about their symptoms, manipulate laboratory tests, or even self-inflict harm.

The primary motivation behind Munchausen syndrome is typically to assume the "sick role" and receive associated attention, sympathy, and support from medical professionals, family members, and others in their social circle. The disorder can lead to unnecessary medical treatments, hospitalizations, and surgeries, and can cause significant emotional harm to both the individual with Munchausen syndrome and their loved ones.

Munchausen syndrome is a complex and challenging condition to diagnose, as it requires a thorough evaluation of the individual's medical history, presentation of symptoms, and psychological factors. Treatment typically involves a combination of psychotherapy, psychiatric care, and support from medical professionals to help the person address the underlying motivations for their behavior and develop more adaptive coping mechanisms.

Congenital Myasthenic Syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders characterized by muscle weakness and fatigability. They are caused by genetic defects that affect the function of the neuromuscular junction, which is the site where nerve impulses are transmitted to muscles.

Unlike acquired myasthenia gravis, CMS are present at birth or develop in early childhood. The muscle weakness can vary from mild to severe and can affect any part of the body, including the eyes, face, neck, limbs, and respiratory muscles. The severity and distribution of symptoms can differ widely among individuals with CMS, depending on the specific genetic defect involved.

CMS are caused by mutations in genes that encode proteins involved in the formation, maintenance, or function of the neuromuscular junction. These proteins include receptors for neurotransmitters, enzymes involved in neurotransmitter metabolism, and structural components of the synaptic cleft.

The diagnosis of CMS is based on clinical features, electrophysiological studies, and genetic testing. Treatment options depend on the specific type of CMS and may include medications that improve neuromuscular transmission, such as cholinesterase inhibitors, or therapies that modulate the immune system, such as plasma exchange or intravenous immunoglobulin. In some cases, supportive care, such as respiratory assistance or physical therapy, may be necessary to manage symptoms and prevent complications.

Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.

The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).

Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.

Poland Syndrome is a rare congenital anomaly characterized by the absence or underdevelopment of the chest muscle (pectoralis major) on one side of the body, often associated with webbing or absence of the fingers (cutaneous syndactyly) and shortening of the arm on the same side. It was first described by Alfred Poland, a British surgeon, in 1841. The exact cause of this condition is not known, but it is believed to be due to an interruption of blood flow to the developing fetus during early pregnancy. Treatment typically involves reconstructive surgery and physical therapy.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

A biological marker, often referred to as a biomarker, is a measurable indicator that reflects the presence or severity of a disease state, or a response to a therapeutic intervention. Biomarkers can be found in various materials such as blood, tissues, or bodily fluids, and they can take many forms, including molecular, histologic, radiographic, or physiological measurements.

In the context of medical research and clinical practice, biomarkers are used for a variety of purposes, such as:

1. Diagnosis: Biomarkers can help diagnose a disease by indicating the presence or absence of a particular condition. For example, prostate-specific antigen (PSA) is a biomarker used to detect prostate cancer.
2. Monitoring: Biomarkers can be used to monitor the progression or regression of a disease over time. For instance, hemoglobin A1c (HbA1c) levels are monitored in diabetes patients to assess long-term blood glucose control.
3. Predicting: Biomarkers can help predict the likelihood of developing a particular disease or the risk of a negative outcome. For example, the presence of certain genetic mutations can indicate an increased risk for breast cancer.
4. Response to treatment: Biomarkers can be used to evaluate the effectiveness of a specific treatment by measuring changes in the biomarker levels before and after the intervention. This is particularly useful in personalized medicine, where treatments are tailored to individual patients based on their unique biomarker profiles.

It's important to note that for a biomarker to be considered clinically valid and useful, it must undergo rigorous validation through well-designed studies, including demonstrating sensitivity, specificity, reproducibility, and clinical relevance.

Alström Syndrome is a rare inherited genetic disorder characterized by the combination of several features, including:

1. Progressive visual impairment due to retinal degeneration (retinitis pigmentosa), which typically begins in childhood and can lead to blindness.
2. Hearing loss, which can also begin in childhood and progress over time.
3. Obesity, which often develops in early childhood and can lead to type 2 diabetes, high blood pressure, and other cardiovascular complications.
4. Dilated cardiomyopathy, a condition in which the heart muscle becomes weakened and enlarged, leading to heart failure.
5. Kidney disease, which can range from mild to severe and may require dialysis or transplantation.
6. Neurological symptoms, such as developmental delays, cognitive impairment, and movement disorders.
7. Hormonal imbalances, including problems with growth hormone, thyroid function, and sexual development.

Alström Syndrome is caused by mutations in the ALMS1 gene, which provides instructions for making a protein that is believed to play a role in maintaining the structure and function of various organelles within cells. The disorder is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

There is no cure for Alström Syndrome, but early diagnosis and management of its various symptoms can help improve quality of life and prolong survival. Treatment typically involves a multidisciplinary approach, with input from specialists such as ophthalmologists, audiologists, cardiologists, nephrologists, endocrinologists, and neurologists.

Rubinstein-Taybi Syndrome (RTS) is a rare genetic disorder characterized by distinct facial features, broad thumbs and first toes, and intellectual disability or developmental delay. Other common features include short stature, small size at birth, and various skeletal abnormalities. RTS is caused by mutations in the CREBBP or EP300 genes, which play a role in gene regulation and are involved in the development and function of the brain and other body systems. The disorder affects both sexes and all racial and ethnic groups, and its incidence is estimated to be 1 in 125,000 live births.

Sudden Infant Death Syndrome (SIDS) is defined by the American Academy of Pediatrics as "the sudden unexpected death of an infant

Hypoplastic Left Heart Syndrome (HLHS) is a congenital heart defect in which the left side of the heart is underdeveloped. This includes the mitral valve, left ventricle, aortic valve, and aorta. The left ventricle is too small or absent, and the aorta is narrowed or poorly formed. As a result, blood cannot be adequately pumped to the body. Oxygen-rich blood from the lungs mixes with oxygen-poor blood in the heart, and the body does not receive enough oxygen-rich blood. HLHS is a serious condition that requires immediate medical attention and often surgical intervention.

Romano-Ward syndrome, also known as Long QT syndrome type 1 or Jervell and Lange-Nielsen syndrome type 2, is a genetic disorder characterized by a prolongation of the QT interval on the electrocardiogram (ECG). The QT interval represents the time it takes for the heart muscle to electrically activate and then recover, or repolarize. A prolonged QT interval can cause chaotic and rapid heartbeats (ventricular tachycardia) that may lead to fainting, seizures, or sudden death.

Romano-Ward syndrome is typically inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the gene mutation from an affected parent. In contrast, Jervell and Lange-Nielsen syndrome type 2 is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to cause the disorder.

Romano-Ward syndrome is caused by mutations in genes that encode for ion channels in the heart muscle cells. These channels control the flow of ions (such as sodium, potassium, and calcium) into and out of the cells, which is necessary for normal electrical activity. Mutations in these genes can disrupt the balance of ions and lead to abnormalities in the electrical activity of the heart, resulting in a prolonged QT interval.

Symptoms of Romano-Ward syndrome may include palpitations, fainting, seizures, or sudden death. The severity of the symptoms can vary widely, even among family members with the same genetic mutation. Treatment typically involves medications to help regulate the heart's electrical activity and prevent ventricular tachycardia. In some cases, an implantable cardioverter-defibrillator (ICD) may be recommended to monitor and correct abnormal heart rhythms.

A Severity of Illness Index is a measurement tool used in healthcare to assess the severity of a patient's condition and the risk of mortality or other adverse outcomes. These indices typically take into account various physiological and clinical variables, such as vital signs, laboratory values, and co-morbidities, to generate a score that reflects the patient's overall illness severity.

Examples of Severity of Illness Indices include the Acute Physiology and Chronic Health Evaluation (APACHE) system, the Simplified Acute Physiology Score (SAPS), and the Mortality Probability Model (MPM). These indices are often used in critical care settings to guide clinical decision-making, inform prognosis, and compare outcomes across different patient populations.

It is important to note that while these indices can provide valuable information about a patient's condition, they should not be used as the sole basis for clinical decision-making. Rather, they should be considered in conjunction with other factors, such as the patient's overall clinical presentation, treatment preferences, and goals of care.

Syndactyly is a congenital condition where two or more digits (fingers or toes) are fused together. It can occur in either the hand or foot, and it can involve fingers or toes on both sides of the hand or foot. The fusion can be partial, where only the skin is connected, or complete, where the bones are also connected. Syndactyly is usually noticed at birth and can be associated with other genetic conditions or syndromes. Surgical intervention may be required to separate the digits and improve function and appearance.

Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.

Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.

Rothmund-Thomson syndrome (RTS) is a rare genetic disorder characterized by the triad of poikiloderma, juvenile cataracts, and skeletal abnormalities. Poikiloderma is a skin condition that involves changes in coloration, including redness, brownish pigmentation, and telangiectasia (dilation of small blood vessels), as well as atrophy (wasting) of the skin.

The syndrome is caused by mutations in the RECQL4 gene, which plays a role in DNA repair. RTS has an autosomal recessive pattern of inheritance, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition.

Individuals with RTS may also experience other symptoms, such as sparse hair, short stature, small hands and feet, missing teeth, and a predisposition to developing certain types of cancer, particularly osteosarcoma (a type of bone cancer). The severity of the condition can vary widely among individuals.

RTS is typically diagnosed based on clinical features and genetic testing. Treatment is focused on managing the symptoms of the condition and may include measures such as sun protection to prevent skin damage, eye exams to monitor for cataracts, and regular cancer screenings.

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

An acute disease is a medical condition that has a rapid onset, develops quickly, and tends to be short in duration. Acute diseases can range from minor illnesses such as a common cold or flu, to more severe conditions such as pneumonia, meningitis, or a heart attack. These types of diseases often have clear symptoms that are easy to identify, and they may require immediate medical attention or treatment.

Acute diseases are typically caused by an external agent or factor, such as a bacterial or viral infection, a toxin, or an injury. They can also be the result of a sudden worsening of an existing chronic condition. In general, acute diseases are distinct from chronic diseases, which are long-term medical conditions that develop slowly over time and may require ongoing management and treatment.

Examples of acute diseases include:

* Acute bronchitis: a sudden inflammation of the airways in the lungs, often caused by a viral infection.
* Appendicitis: an inflammation of the appendix that can cause severe pain and requires surgical removal.
* Gastroenteritis: an inflammation of the stomach and intestines, often caused by a viral or bacterial infection.
* Migraine headaches: intense headaches that can last for hours or days, and are often accompanied by nausea, vomiting, and sensitivity to light and sound.
* Myocardial infarction (heart attack): a sudden blockage of blood flow to the heart muscle, often caused by a buildup of plaque in the coronary arteries.
* Pneumonia: an infection of the lungs that can cause coughing, chest pain, and difficulty breathing.
* Sinusitis: an inflammation of the sinuses, often caused by a viral or bacterial infection.

It's important to note that while some acute diseases may resolve on their own with rest and supportive care, others may require medical intervention or treatment to prevent complications and promote recovery. If you are experiencing symptoms of an acute disease, it is always best to seek medical attention to ensure proper diagnosis and treatment.

Burning Mouth Syndrome (BMS) is a chronic oral condition characterized by a burning, scalding, or tingling sensation in the mouth without an obvious cause. The symptoms most commonly affect the tongue, but they may also involve the roof of the mouth, gums, inside of the cheeks, and lips. The pain can range from mild to severe and may be continuous or intermittent.

The exact cause of BMS is not well understood, but it is believed to be a neuropathic condition, meaning that it involves damage to or malfunction of the nerves that transmit sensation in the mouth. In some cases, BMS may be associated with underlying medical conditions such as hormonal imbalances, nutritional deficiencies, or autoimmune disorders. However, in many cases, no specific cause can be identified.

Treatment for BMS typically involves addressing any underlying medical conditions and managing the symptoms with medications, lifestyle changes, and other therapies. Medications such as antidepressants, anticonvulsants, and topical anesthetics may be used to help relieve pain and discomfort. Lifestyle changes such as avoiding spicy or acidic foods, practicing good oral hygiene, and reducing stress may also help alleviate symptoms. In some cases, cognitive-behavioral therapy or other psychological interventions may be recommended to help patients cope with chronic pain.

Electrocardiography (ECG or EKG) is a medical procedure that records the electrical activity of the heart. It provides a graphic representation of the electrical changes that occur during each heartbeat. The resulting tracing, called an electrocardiogram, can reveal information about the heart's rate and rhythm, as well as any damage to its cells or abnormalities in its conduction system.

During an ECG, small electrodes are placed on the skin of the chest, arms, and legs. These electrodes detect the electrical signals produced by the heart and transmit them to a machine that amplifies and records them. The procedure is non-invasive, painless, and quick, usually taking only a few minutes.

ECGs are commonly used to diagnose and monitor various heart conditions, including arrhythmias, coronary artery disease, heart attacks, and electrolyte imbalances. They can also be used to evaluate the effectiveness of certain medications or treatments.

Insulin resistance is a condition in which the body's cells become less responsive to insulin, a hormone produced by the pancreas that regulates blood sugar levels. In response to this decreased sensitivity, the pancreas produces more insulin to help glucose enter the cells. However, over time, the pancreas may not be able to keep up with the increased demand for insulin, leading to high levels of glucose in the blood and potentially resulting in type 2 diabetes, prediabetes, or other health issues such as metabolic syndrome, cardiovascular disease, and non-alcoholic fatty liver disease. Insulin resistance is often associated with obesity, physical inactivity, and genetic factors.

A chromosome deletion is a type of genetic abnormality that occurs when a portion of a chromosome is missing or deleted. Chromosomes are thread-like structures located in the nucleus of cells that contain our genetic material, which is organized into genes.

Chromosome deletions can occur spontaneously during the formation of reproductive cells (eggs or sperm) or can be inherited from a parent. They can affect any chromosome and can vary in size, from a small segment to a large portion of the chromosome.

The severity of the symptoms associated with a chromosome deletion depends on the size and location of the deleted segment. In some cases, the deletion may be so small that it does not cause any noticeable symptoms. However, larger deletions can lead to developmental delays, intellectual disabilities, physical abnormalities, and various medical conditions.

Chromosome deletions are typically detected through a genetic test called karyotyping, which involves analyzing the number and structure of an individual's chromosomes. Other more precise tests, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), may also be used to confirm the diagnosis and identify the specific location and size of the deletion.

Hypertelorism is a medical term that refers to an ocular condition where the distance between two eyes (interpupillary distance) is abnormally increased. It's typically defined as an interpupillary distance that measures more than 2 standard deviations beyond the mean for a given age, gender, and race.

This condition can be associated with various genetic syndromes or conditions such as craniosynostosis (premature fusion of skull sutures), fetal alcohol syndrome, and certain chromosomal abnormalities like Down syndrome. Hypertelorism may also occur in isolation without any other associated anomalies.

It's important to note that hypertelorism can have cosmetic implications, particularly if the distance between the eyes is significantly increased, as it may affect the overall symmetry and appearance of the face. However, in most cases, this condition does not directly impact vision unless there are other related structural abnormalities of the eye or orbit.

Lambert-Eaton Myasthenic Syndrome (LEMS) is a rare autoimmune disorder characterized by muscle weakness and fatigability. It is caused by the presence of antibodies against voltage-gated calcium channels (VGCC) in the neuromuscular junction, which disrupts the normal transmission of signals between nerves and muscles.

The symptoms of LEMS include proximal muscle weakness, which may affect the legs more than the arms, and autonomic dysfunction such as dry mouth and constipation. The weakness tends to improve with exercise but worsens after periods of rest. In some cases, LEMS can be associated with cancer, particularly small cell lung cancer.

Diagnosis of LEMS typically involves a combination of clinical evaluation, electromyography (EMG) studies, and blood tests to detect VGCC antibodies. Treatment may include medications such as pyridostigmine, which improves neuromuscular transmission, or intravenous immunoglobulin and plasma exchange, which help to reduce the immune response. In cases where LEMS is associated with cancer, treatment of the underlying malignancy can also improve muscle strength and function.

Zellweger Syndrome is a rare genetic disorder that affects the development and function of multiple organ systems in the body. It is part of a group of conditions known as peroxisome biogenesis disorders (PBDs), which are characterized by abnormalities in the structure and function of peroxisomes, which are cellular structures that break down fatty acids and other substances in the body.

Zellweger Syndrome is caused by mutations in one or more genes involved in the formation and maintenance of peroxisomes. As a result, people with this condition have reduced levels of certain enzymes that are necessary for normal brain development, as well as for the breakdown of fats and other substances in the body.

Symptoms of Zellweger Syndrome typically appear within the first few months of life and may include:

* Severe developmental delays and intellectual disability
* Hypotonia (low muscle tone) and poor motor skills
* Vision and hearing problems
* Facial abnormalities, such as a high forehead, wide-set eyes, and a prominent nasal bridge
* Liver dysfunction and jaundice
* Seizures
* Feeding difficulties and failure to thrive

There is no cure for Zellweger Syndrome, and treatment is focused on managing the symptoms of the condition. The prognosis for people with this disorder is generally poor, with most individuals not surviving beyond the first year of life. However, some individuals with milder forms of the condition may live into early childhood or adolescence.

Tumor Lysis Syndrome (TLS) is a metabolic complication that can occur following the rapid destruction of malignant cells, most commonly seen in hematologic malignancies such as acute leukemias and high-grade non-Hodgkin lymphomas. The rapid breakdown of these cancer cells releases a large amount of intracellular contents, including potassium, phosphorus, and nucleic acids, into the bloodstream.

This sudden influx of substances can lead to three major metabolic abnormalities: hyperkalemia (elevated potassium levels), hyperphosphatemia (elevated phosphate levels), and hypocalcemia (low calcium levels). Hyperuricemia (elevated uric acid levels) may also occur due to the breakdown of nucleic acids. These metabolic disturbances can cause various clinical manifestations, such as cardiac arrhythmias, seizures, renal failure, and even death if not promptly recognized and treated.

TLS is classified into two types: laboratory TLS (LTLS) and clinical TLS (CTLS). LTLS is defined by the presence of abnormal laboratory values without any related clinical symptoms, while CTLS is characterized by laboratory abnormalities accompanied by clinical signs or symptoms. Preventive measures, such as aggressive hydration, urinary alkalinization, and prophylactic medications to lower uric acid levels, are often employed in high-risk patients to prevent the development of TLS.

Malignant carcinoid syndrome is a complex of symptoms that occur in some people with malignant tumors (carcinoids) that secrete large amounts of hormone-like substances, particularly serotonin. These symptoms can include flushing of the face and upper body, diarrhea, rapid heartbeat, difficulty breathing, and abdominal pain and distention. In addition, these individuals may have chronic inflammation of the heart valves (endocarditis) leading to heart failure. It is important to note that not all people with carcinoid tumors will develop malignant carcinoid syndrome, but those who do require specific treatment for their symptoms and hormonal imbalances.

Karyotyping is a medical laboratory test used to study the chromosomes in a cell. It involves obtaining a sample of cells from a patient, usually from blood or bone marrow, and then staining the chromosomes so they can be easily seen under a microscope. The chromosomes are then arranged in pairs based on their size, shape, and other features to create a karyotype. This visual representation allows for the identification and analysis of any chromosomal abnormalities, such as extra or missing chromosomes, or structural changes like translocations or inversions. These abnormalities can provide important information about genetic disorders, diseases, and developmental problems.

Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).

Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.

Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.

A heterozygote is an individual who has inherited two different alleles (versions) of a particular gene, one from each parent. This means that the individual's genotype for that gene contains both a dominant and a recessive allele. The dominant allele will be expressed phenotypically (outwardly visible), while the recessive allele may or may not have any effect on the individual's observable traits, depending on the specific gene and its function. Heterozygotes are often represented as 'Aa', where 'A' is the dominant allele and 'a' is the recessive allele.

Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.

The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:

* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities

ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.

There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.

Obesity is a complex disease characterized by an excess accumulation of body fat to the extent that it negatively impacts health. It's typically defined using Body Mass Index (BMI), a measure calculated from a person's weight and height. A BMI of 30 or higher is indicative of obesity. However, it's important to note that while BMI can be a useful tool for identifying obesity in populations, it does not directly measure body fat and may not accurately reflect health status in individuals. Other factors such as waist circumference, blood pressure, cholesterol levels, and blood sugar levels should also be considered when assessing health risks associated with weight.

WAGR syndrome is a genetic disorder that stands for four main features: Wilms' tumor (a type of kidney cancer), aniridia (absence of the iris in the eye), genitourinary anomalies, and mental retardation. It is caused by a deletion of genetic material on chromosome 11, which includes the WAFT gene. This syndrome is rare and occurs in approximately 1 in 500,000 individuals.

The Wilms' tumor in WAGR syndrome typically develops during childhood, with about half of affected children developing this type of cancer by age 7. Aniridia is usually present at birth and can cause decreased vision or sensitivity to light. Genitourinary anomalies can include abnormalities of the reproductive and urinary systems, such as undescended testicles in males or structural abnormalities of the kidneys or urinary tract. Mental retardation ranges from mild to severe and is often accompanied by developmental delays and behavioral problems.

Early diagnosis and treatment of WAGR syndrome can improve outcomes for affected individuals. Treatment typically includes surveillance for Wilms' tumor, management of aniridia and genitourinary anomalies, and special education and therapy services for mental retardation.

Smith-Magenis Syndrome (SMS) is a genetic disorder caused by a deletion or mutation in chromosome 17p11.2. It is characterized by a distinct pattern of facial features, developmental delay, intellectual disability, behavioral problems such as aggression, self-injury, and sleep disturbances. Individuals with SMS may also have hearing and vision issues, speech and language delays, orthopedic problems, and heart defects. It is important to note that the severity of symptoms can vary widely among individuals with SMS.

Acrocephalosyndactyly is a genetic disorder that affects the development of the skull and limbs. The term comes from the Greek words "acros," meaning extremity, "cephale," meaning head, and "syndactylia," meaning webbed or fused fingers or toes.

There are several types of acrocephalosyndactyly, but the most common is Type 1, also known as Apert syndrome. People with Apert syndrome have a characteristic appearance, including a high, prominent forehead (acrocephaly), widely spaced eyes (hypertelorism), and underdeveloped upper jaw and midface (maxillary hypoplasia). They also have webbed or fused fingers and toes (syndactyly) and may have other skeletal abnormalities.

Acrocephalosyndactyly is caused by a mutation in the FGFR2 gene, which provides instructions for making a protein that is involved in the development of bones and tissues. The mutation leads to overactive signaling of the FGFR2 protein, which can cause abnormal bone growth and fusion.

Treatment for acrocephalosyndactyly typically involves a team of specialists, including geneticists, orthopedic surgeons, craniofacial surgeons, and other healthcare professionals. Surgery may be necessary to correct skeletal abnormalities, improve function, and enhance appearance. Speech therapy, occupational therapy, and other supportive care may also be recommended.

Genotype, in genetics, refers to the complete heritable genetic makeup of an individual organism, including all of its genes. It is the set of instructions contained in an organism's DNA for the development and function of that organism. The genotype is the basis for an individual's inherited traits, and it can be contrasted with an individual's phenotype, which refers to the observable physical or biochemical characteristics of an organism that result from the expression of its genes in combination with environmental influences.

It is important to note that an individual's genotype is not necessarily identical to their genetic sequence. Some genes have multiple forms called alleles, and an individual may inherit different alleles for a given gene from each parent. The combination of alleles that an individual inherits for a particular gene is known as their genotype for that gene.

Understanding an individual's genotype can provide important information about their susceptibility to certain diseases, their response to drugs and other treatments, and their risk of passing on inherited genetic disorders to their offspring.

Sneddon syndrome is a rare medical condition characterized by the concurrence of livedo reticularis (a purplish, net-like discoloration of the skin) and recurrent strokes or transient ischemic attacks (TIAs). It primarily affects young to middle-aged women. The exact cause of Sneddon syndrome remains unknown, but it's thought to be an autoimmune disorder with potential involvement of the coagulation system.

The main diagnostic criteria for Sneddon syndrome are:

1. Livedo reticularis (fixed, persistent form)
2. One or more cerebrovascular events (strokes or TIAs)

Additional features may include cognitive impairment, migraine-like headaches, seizures, and other neurological symptoms. Diagnosis is often challenging due to its rarity and the need to exclude other conditions that can present with similar symptoms. Treatment typically involves anticoagulation therapy, antiplatelet agents, or immunosuppressive medications to manage symptoms and prevent further cerebrovascular events.

X-ray computed tomography (CT or CAT scan) is a medical imaging method that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional (tomographic) images (virtual "slices") of the body. These cross-sectional images can then be used to display detailed internal views of organs, bones, and soft tissues in the body.

The term "computed tomography" is used instead of "CT scan" or "CAT scan" because the machines take a series of X-ray measurements from different angles around the body and then use a computer to process these data to create detailed images of internal structures within the body.

CT scanning is a noninvasive, painless medical test that helps physicians diagnose and treat medical conditions. CT imaging provides detailed information about many types of tissue including lung, bone, soft tissue and blood vessels. CT examinations can be performed on every part of the body for a variety of reasons including diagnosis, surgical planning, and monitoring of therapeutic responses.

In computed tomography (CT), an X-ray source and detector rotate around the patient, measuring the X-ray attenuation at many different angles. A computer uses this data to construct a cross-sectional image by the process of reconstruction. This technique is called "tomography". The term "computed" refers to the use of a computer to reconstruct the images.

CT has become an important tool in medical imaging and diagnosis, allowing radiologists and other physicians to view detailed internal images of the body. It can help identify many different medical conditions including cancer, heart disease, lung nodules, liver tumors, and internal injuries from trauma. CT is also commonly used for guiding biopsies and other minimally invasive procedures.

In summary, X-ray computed tomography (CT or CAT scan) is a medical imaging technique that uses computer-processed combinations of many X-ray images taken from different angles to produce cross-sectional images of the body. It provides detailed internal views of organs, bones, and soft tissues in the body, allowing physicians to diagnose and treat medical conditions.

A base sequence in the context of molecular biology refers to the specific order of nucleotides in a DNA or RNA molecule. In DNA, these nucleotides are adenine (A), guanine (G), cytosine (C), and thymine (T). In RNA, uracil (U) takes the place of thymine. The base sequence contains genetic information that is transcribed into RNA and ultimately translated into proteins. It is the exact order of these bases that determines the genetic code and thus the function of the DNA or RNA molecule.

A coloboma is a congenital condition that results from incomplete closure of the optic fissure during fetal development. This results in a gap or hole in one or more structures of the eye, such as the iris, retina, choroid, or optic nerve. The size and location of the coloboma can vary widely, and it may affect one or both eyes.

Colobomas can cause a range of visual symptoms, depending on their size and location. Some people with colobomas may have no visual impairment, while others may experience reduced vision, double vision, or sensitivity to light. In severe cases, colobomas can lead to blindness.

Colobomas are usually diagnosed during routine eye exams and are typically not treatable, although some visual symptoms may be managed with glasses, contact lenses, or surgery in certain cases. Colobomas can occur as an isolated condition or as part of a genetic syndrome, so individuals with colobomas may benefit from genetic counseling to understand their risk of passing the condition on to their offspring.

Kearns-Sayre Syndrome (KSS) is a rare, progressive genetic disorder that affects the function of the mitochondria, which are the energy-producing structures in cells. It is classified as a type of mitochondrial myopathy and is typically associated with symptoms that appear before the age of 20.

The medical definition of Kearns-Sayre Syndrome includes the following criteria:
1. Onset before 20 years of age
2. Progressive external ophthalmoplegia (PEO), which is characterized by weakness and paralysis of the eye muscles, leading to drooping eyelids (ptosis) and limited eye movement
3. Retinitis pigmentosa, a degenerative condition affecting the retina that can lead to vision loss
4. A cardiac conduction defect, such as heart block
5. Ragged red fibers on muscle biopsy
6. At least one major criteria or two minor criteria must be present:
* Major criteria include cerebellar ataxia (lack of coordination), deafness, or increased protein in the cerebrospinal fluid
* Minor criteria include pigmentary retinopathy, heart block, or a high level of creatine kinase in the blood.

Kearns-Sayre Syndrome is caused by a single large-scale deletion of genes in the mitochondrial DNA and is usually sporadic, meaning it occurs randomly and is not inherited from parents. The condition can be diagnosed through genetic testing, muscle biopsy, or other clinical tests. Treatment is focused on managing symptoms and may include physical therapy, surgery for ptosis, hearing aids, and pacemakers for heart block.

Cri-du-chat syndrome is a genetic disorder caused by a deletion of part of chromosome 5. The name "Cri-du-chat" means "cry of the cat" in French, and refers to the characteristic high-pitched, distinctive cry of affected infants, which sounds similar to the meow of a cat.

The symptoms of Cri-du-chat syndrome can vary widely in severity, but typically include intellectual disability, developmental delays, speech and language difficulties, low muscle tone, and distinctive facial features such as wide-set eyes, a shortened jaw, and a rounded nose. Affected individuals may also have hearing and vision problems, heart defects, and gastrointestinal issues.

Cri-du-chat syndrome is usually not inherited and occurs randomly during the formation of the egg or sperm. It affects approximately 1 in 20,000 to 50,000 newborns worldwide. There is no cure for Cri-du-chat syndrome, but early intervention with therapies such as speech and language therapy, physical therapy, and occupational therapy can help improve outcomes and quality of life for affected individuals.

Prenatal diagnosis is the medical testing of fetuses, embryos, or pregnant women to detect the presence or absence of certain genetic disorders or birth defects. These tests can be performed through various methods such as chorionic villus sampling (CVS), amniocentesis, or ultrasound. The goal of prenatal diagnosis is to provide early information about the health of the fetus so that parents and healthcare providers can make informed decisions about pregnancy management and newborn care. It allows for early intervention, treatment, or planning for the child's needs after birth.

Malabsorption syndromes refer to a group of disorders in which the small intestine is unable to properly absorb nutrients from food, leading to various gastrointestinal and systemic symptoms. This can result from a variety of underlying conditions, including:

1. Mucosal damage: Conditions such as celiac disease, inflammatory bowel disease (IBD), or bacterial overgrowth that cause damage to the lining of the small intestine, impairing nutrient absorption.
2. Pancreatic insufficiency: A lack of digestive enzymes produced by the pancreas can lead to poor breakdown and absorption of fats, proteins, and carbohydrates. Examples include chronic pancreatitis or cystic fibrosis.
3. Bile acid deficiency: Insufficient bile acids, which are necessary for fat emulsification and absorption, can result in steatorrhea (fatty stools) and malabsorption. This may occur due to liver dysfunction, gallbladder removal, or ileal resection.
4. Motility disorders: Abnormalities in small intestine motility can affect nutrient absorption, as seen in conditions like gastroparesis, intestinal pseudo-obstruction, or scleroderma.
5. Structural abnormalities: Congenital or acquired structural defects of the small intestine, such as short bowel syndrome, may lead to malabsorption.
6. Infections: Certain bacterial, viral, or parasitic infections can cause transient malabsorption by damaging the intestinal mucosa or altering gut flora.

Symptoms of malabsorption syndromes may include diarrhea, steatorrhea, bloating, abdominal cramps, weight loss, and nutrient deficiencies. Diagnosis typically involves a combination of clinical evaluation, laboratory tests, radiologic imaging, and sometimes endoscopic procedures to identify the underlying cause. Treatment is focused on addressing the specific etiology and providing supportive care to manage symptoms and prevent complications.

Cardio-renal syndrome (CRS) is a term used to describe the interplay between heart and kidney dysfunction, where acute or chronic damage in one organ can lead to dysfunction in the other. It is typically classified into five subtypes based on the primary organ dysfunction and the temporal relationship between cardiac and renal dysfunction.

The medical definition of CRS is:

A complex pathophysiological disorder involving heart and kidney interactions, where acute or chronic dysfunction in one organ can lead to dysfunction in the other. It is characterized by a spectrum of clinical presentations ranging from subtle biochemical changes to overt cardiac or renal failure. The syndrome encompasses five subtypes based on the primary organ dysfunction and the temporal relationship between heart and kidney involvement:

1. CRS Type 1 (Acute Cardio-Renal Syndrome): Acute worsening of heart function leading to acute kidney injury (AKI)
2. CRS Type 2 (Chronic Cardio-Renal Syndrome): Chronic abnormalities in cardiac function causing progressive and chronic kidney disease (CKD)
3. CRS Type 3 (Acute Reno-Cardiac Syndrome): Sudden worsening of renal function leading to acute cardiac injury or dysfunction
4. CRS Type 4 (Chronic Reno-Cardiac Syndrome): Chronic kidney disease contributing to decreased cardiac function, heart failure, and/or cardiovascular morbidity and mortality
5. CRS Type 5 (Secondary Cardio-Renal Syndrome): Systemic conditions causing simultaneous dysfunction in both the heart and kidneys

The pathophysiology of CRS involves complex interactions between neurohormonal, inflammatory, and hemodynamic factors that can lead to a vicious cycle of worsening organ function. Early recognition and management of CRS are crucial for improving patient outcomes.

Barth syndrome is a rare X-linked genetic disorder that primarily affects boys. It is caused by mutations in the TAFazzin (TAZ) gene, which provides instructions for making a protein involved in the formation of energy-producing structures called mitochondria within cells.

The main features of Barth syndrome include:
1. Cardiomyopathy: Weakened heart muscle (cardiomyopathy) that can lead to heart failure and life-threatening arrhythmias.
2. Neutropenia: Low levels of white blood cells called neutrophils, which increases the risk of recurrent infections.
3. Skeletal muscle weakness: Weakness and wasting of skeletal muscles, leading to decreased exercise tolerance and mobility issues.
4. Growth delay: Slowed growth and development during childhood.
5. Fatigue: Persistent fatigue and reduced endurance.
6. Arrhythmias: Irregular heart rhythms.
7. Low levels of carnitine, a nutrient that helps transport fatty acids into mitochondria for energy production.

Treatment for Barth syndrome is primarily supportive and focuses on addressing the specific symptoms and complications present in each individual case. This may include medications to manage heart function, antibiotics to treat infections, physical therapy to improve muscle strength and mobility, and dietary supplements like carnitine. Regular monitoring by a multidisciplinary team of healthcare professionals is essential for managing the condition effectively.

Micrognathism is a medical term that refers to a condition where the lower jaw (mandible) is abnormally small or underdeveloped. This can result in various dental and skeletal problems, including an improper bite (malocclusion), difficulty speaking, chewing, or swallowing, and sleep apnea. Micrognathism may be congenital or acquired later in life due to trauma, disease, or surgical removal of part of the jaw. Treatment options depend on the severity of the condition and can include orthodontic treatment, surgery, or a combination of both.

Craniosynostosis is a medical condition that affects the skull of a developing fetus or infant. It is characterized by the premature closure of one or more of the fibrous sutures between the bones of the skull (cranial sutures). These sutures typically remain open during infancy to allow for the growth and development of the brain.

When a suture closes too early, it can restrict the growth of the surrounding bones and cause an abnormal shape of the head. The severity of craniosynostosis can vary depending on the number of sutures involved and the extent of the premature closure. In some cases, craniosynostosis can also lead to increased pressure on the brain, which can cause a range of neurological symptoms.

There are several types of craniosynostoses, including:

1. Sagittal synostosis: This is the most common type and involves the premature closure of the sagittal suture, which runs from front to back along the top of the head. This can cause the skull to grow long and narrow, a condition known as scaphocephaly.
2. Coronal synostosis: This type involves the premature closure of one or both of the coronal sutures, which run from the temples to the front of the head. When one suture is affected, it can cause the forehead to bulge and the eye socket on that side to sink in (anterior plagiocephaly). When both sutures are affected, it can cause a flattened appearance of the forehead and a prominent back of the head (brachycephaly).
3. Metopic synostosis: This type involves the premature closure of the metopic suture, which runs from the top of the forehead to the bridge of the nose. It can cause a triangular shape of the forehead and a prominent ridge along the midline of the skull (trigonocephaly).
4. Lambdoid synostosis: This is the least common type and involves the premature closure of the lambdoid suture, which runs along the back of the head. It can cause an asymmetrical appearance of the head and face, as well as possible neurological symptoms.

In some cases, multiple sutures may be affected, leading to more complex craniofacial abnormalities. Treatment for craniosynostosis typically involves surgery to release the fused suture(s) and reshape the skull. The timing of the surgery depends on the type and severity of the condition but is usually performed within the first year of life. Early intervention can help prevent further complications, such as increased intracranial pressure and developmental delays.

Gardner Syndrome is a rare inherited condition associated with a mutation in the APC gene, which also causes Familial Adenomatous Polyposis (FAP). This syndrome is characterized by the development of multiple benign tumors called adenomas in the colon and rectum. Additionally, individuals with Gardner Syndrome often develop various types of non-cancerous growths outside the gastrointestinal tract, such as osteomas (benign bone tumors), dental abnormalities, and epidermoid cysts on the skin.

Individuals with this syndrome have an increased risk of developing colorectal cancer at a young age, typically before 40 years old, if not monitored and treated appropriately. Other cancers that may develop in association with Gardner Syndrome include duodenal cancer, thyroid cancer, brain tumors (particularly cerebellar medulloblastomas), and adrenal gland tumors.

Regular surveillance through colonoscopies and other diagnostic tests is crucial for early detection and management of potential malignancies in individuals with Gardner Syndrome.

Cogan syndrome is a rare inflammatory disorder that affects the eyes and inner ear. It is characterized by the combination of non-syphilitic interstitial keratitis (inflammation of the cornea) and vestibuloauditory dysfunction (damage to the inner ear causing balance problems and hearing loss).

The symptoms of Cogan syndrome can develop suddenly or gradually, and they may include:

* Redness, pain, and blurry vision in one or both eyes
* Sensitivity to light
* Hearing loss, often sudden and progressive, affecting one or both ears
* Vertigo (a spinning sensation) and balance problems
* Tinnitus (ringing or buzzing in the ears)
* Nausea and vomiting

The exact cause of Cogan syndrome is not known, but it is believed to be an autoimmune disorder, in which the body's immune system mistakenly attacks healthy tissues. Treatment typically involves the use of corticosteroids and other immunosuppressive drugs to reduce inflammation and prevent further damage. In severe cases, aggressive treatment with biologic agents may be necessary.

It is important to note that Cogan syndrome is a rare condition, affecting only about 1 in 500,000 people worldwide. If you are experiencing symptoms of this disorder, it is important to seek medical attention from a healthcare professional who has experience diagnosing and treating rare inflammatory disorders.

Bernard-Soulier Syndrome is a rare autosomal recessive bleeding disorder characterized by a deficiency or dysfunction of the glycoprotein Ib-IX-V complex, which is a crucial component of platelet function. This complex plays a role in the initial adhesion of platelets to the damaged endothelium at the site of blood vessel injury.

The deficiency or dysfunction of this complex leads to abnormalities in platelet aggregation and results in prolonged bleeding times, increased bruising, and excessive blood loss during menstruation, surgery, or trauma. Additionally, individuals with Bernard-Soulier Syndrome often have giant platelets and a decreased platelet count (thrombocytopenia).

The syndrome is named after Jean J. Bernard and Jean-Pierre Soulier, who first described the disorder in 1948. It has an estimated prevalence of about 1 in one million individuals worldwide.

Euthyroid sick syndrome, also known as non-thyroidal illness syndrome (NTIS), is a condition characterized by abnormal thyroid function tests that occur in individuals with underlying non-thyroidal systemic illness. Despite the presence of abnormal test results, these individuals do not have evidence of clinical hypothyroidism or hyperthyroidism.

In euthyroid sick syndrome, the levels of triiodothyronine (T3) and thyroxine (T4) hormones may be decreased, while thyroid-stimulating hormone (TSH) levels remain normal or low. This is thought to occur due to alterations in the peripheral metabolism of thyroid hormones, rather than changes in the function of the thyroid gland itself.

The condition is often seen in individuals with severe illness, such as sepsis, cancer, malnutrition, or following major surgery. It is thought to represent an adaptive response to stress and illness, although the exact mechanisms are not fully understood. In most cases, euthyroid sick syndrome resolves on its own once the underlying illness has been treated.

Trisomy is a genetic condition where there is an extra copy of a particular chromosome, resulting in 47 chromosomes instead of the typical 46 in a cell. This usually occurs due to an error in cell division during the development of the egg, sperm, or embryo.

Instead of the normal pair, there are three copies (trisomy) of that chromosome. The most common form of trisomy is Trisomy 21, also known as Down syndrome, where there is an extra copy of chromosome 21. Other forms include Trisomy 13 (Patau syndrome) and Trisomy 18 (Edwards syndrome), which are associated with more severe developmental issues and shorter lifespans.

Trisomy can also occur in a mosaic form, where some cells have the extra chromosome while others do not, leading to varying degrees of symptoms depending on the proportion of affected cells.

CHARGE syndrome is a genetic disorder that is associated with a variety of birth defects and medical issues. The name CHARGE is an acronym that stands for:

* Coloboma of the eye, which is a hole in the structure of the eye that is present at birth.
* Heart defects, which can range from mild to severe.
* Atresia of the choanae, which is the absence or closure of the nasal passages.
* Retardation of growth and/or development.
* Genital and/or urinary abnormalities.
* Ear abnormalities and deafness.

CHARGE syndrome is caused by mutations in the CHD7 gene, which is located on chromosome 8. This gene provides instructions for making a protein that is involved in the development of the eyes, ears, and other parts of the body. Mutations in the CHD7 gene can lead to the characteristic features of CHARGE syndrome.

CHARGE syndrome is typically diagnosed based on the presence of certain physical characteristics and medical issues. A genetic test can be done to confirm the diagnosis and identify the specific mutation that is causing the disorder.

Treatment for CHARGE syndrome depends on the severity of the symptoms and may include surgery, therapy, and other medical interventions. With appropriate care, many people with CHARGE syndrome are able to lead fulfilling lives.

A cohort study is a type of observational study in which a group of individuals who share a common characteristic or exposure are followed up over time to determine the incidence of a specific outcome or outcomes. The cohort, or group, is defined based on the exposure status (e.g., exposed vs. unexposed) and then monitored prospectively to assess for the development of new health events or conditions.

Cohort studies can be either prospective or retrospective in design. In a prospective cohort study, participants are enrolled and followed forward in time from the beginning of the study. In contrast, in a retrospective cohort study, researchers identify a cohort that has already been assembled through medical records, insurance claims, or other sources and then look back in time to assess exposure status and health outcomes.

Cohort studies are useful for establishing causality between an exposure and an outcome because they allow researchers to observe the temporal relationship between the two. They can also provide information on the incidence of a disease or condition in different populations, which can be used to inform public health policy and interventions. However, cohort studies can be expensive and time-consuming to conduct, and they may be subject to bias if participants are not representative of the population or if there is loss to follow-up.

Methyl-CpG-Binding Protein 2 (MeCP2) is a protein that binds to methylated DNA at symmetric CpG sites and plays a crucial role in the regulation of gene expression. MeCP2 is involved in various cellular processes, including chromatin organization, transcriptional repression, and neurological development. Mutations in the MECP2 gene have been associated with several neurodevelopmental disorders, most notably Rett syndrome, a severe X-linked genetic disorder that primarily affects girls. The MeCP2 protein is highly expressed in brain cells, particularly in neurons, where it helps to maintain the balance between methylated and unmethylated DNA, thereby ensuring proper gene expression and neural function.

Nerve compression syndromes refer to a group of conditions characterized by the pressure or irritation of a peripheral nerve, causing various symptoms such as pain, numbness, tingling, and weakness in the affected area. This compression can occur due to several reasons, including injury, repetitive motion, bone spurs, tumors, or swelling. Common examples of nerve compression syndromes include carpal tunnel syndrome, cubital tunnel syndrome, radial nerve compression, and ulnar nerve entrapment at the wrist or elbow. Treatment options may include physical therapy, splinting, medications, injections, or surgery, depending on the severity and underlying cause of the condition.

Branchio-Oto-Rnal (BOR) syndrome is a genetic disorder that affects the development of structures in the neck and head, as well as the kidneys and ears. The name "branchio-oto-renal" comes from the Greek words "branchia," meaning gill, "ot", meaning ear, and "renal," meaning kidney, reflecting the main areas affected by this syndrome.

BOR syndrome is characterized by a combination of the following features:

1. Branchial arch anomalies: These are abnormalities in the structures that develop from the branchial arches, which are embryonic structures that give rise to various parts of the head and neck. In BOR syndrome, these anomalies may include pits, tags, or cysts on the side of the neck.
2. Hearing loss: Most people with BOR syndrome have hearing loss, which can range from mild to severe. The hearing loss is often conductive, meaning it results from problems with the outer or middle ear, but it can also be sensorineural, meaning it affects the inner ear or nerve pathways that transmit sound to the brain.
3. Renal anomalies: About 25% of people with BOR syndrome have kidney abnormalities, which can include structural defects, such as horseshoe kidney, or functional problems, such as renal insufficiency.

BOR syndrome is caused by mutations in the EYA1 gene, which is involved in the development and function of the ears, kidneys, and other structures in the body. The condition is inherited in an autosomal dominant manner, meaning that a person has a 50% chance of inheriting the disorder if one of their parents has it.

Treatment for BOR syndrome typically involves addressing the specific symptoms and complications that arise. For example, hearing loss may be managed with hearing aids or cochlear implants, while kidney problems may require surgery or other interventions. Regular monitoring by a healthcare team is also important to detect and manage any potential complications.

Sotos Syndrome is a genetic disorder characterized by excessive early growth and developmental delay. It is also known as cerebral gigantism. The symptoms typically include:

1. Large size at birth, with rapid postnatal growth leading to tall stature in early childhood.
2. Developmental delay, often becoming apparent after the first year of life. This may include delayed milestones in sitting, standing, walking, and speaking.
3. Macrocephaly (large head size).
4. Characteristic facial features such as a high forehead, prominent jaw, and wide-spaced eyes.
5. Learning difficulties or intellectual disability, ranging from mild to severe.
6. Increased risk of seizures, particularly in infancy and childhood.
7. Behavioral problems such as ADHD (Attention Deficit Hyperactivity Disorder) or autism spectrum disorders.

The syndrome is caused by mutations in the NSD1 gene, which is located on chromosome 5. This gene provides instructions for making a protein that helps regulate gene expression. In Sotos Syndrome, the mutated NSD1 gene doesn't function properly, leading to overgrowth and developmental delay. The syndrome is usually inherited in an autosomal dominant manner, meaning that only one copy of the altered gene, inherited from either parent, is sufficient to cause the disorder. However, most cases result from new (de novo) mutations in the gene and occur in people with no family history of the disorder.

Pigmentation disorders are conditions that affect the production or distribution of melanin, the pigment responsible for the color of skin, hair, and eyes. These disorders can cause changes in the color of the skin, resulting in areas that are darker (hyperpigmentation) or lighter (hypopigmentation) than normal. Examples of pigmentation disorders include melasma, age spots, albinism, and vitiligo. The causes, symptoms, and treatments for these conditions can vary widely, so it is important to consult a healthcare provider for an accurate diagnosis and treatment plan.

Genetic testing is a type of medical test that identifies changes in chromosomes, genes, or proteins. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person's chance of developing or passing on a genetic disorder. Genetic tests are performed on a sample of blood, hair, skin, amniotic fluid (the fluid that surrounds a fetus during pregnancy), or other tissue. For example, a physician may recommend genetic testing to help diagnose a genetic condition, confirm the presence of a gene mutation known to increase the risk of developing certain cancers, or determine the chance for a couple to have a child with a genetic disorder.

There are several types of genetic tests, including:

* Diagnostic testing: This type of test is used to identify or confirm a suspected genetic condition in an individual. It may be performed before birth (prenatal testing) or at any time during a person's life.
* Predictive testing: This type of test is used to determine the likelihood that a person will develop a genetic disorder. It is typically offered to individuals who have a family history of a genetic condition but do not show any symptoms themselves.
* Carrier testing: This type of test is used to determine whether a person carries a gene mutation for a genetic disorder. It is often offered to couples who are planning to have children and have a family history of a genetic condition or belong to a population that has an increased risk of certain genetic disorders.
* Preimplantation genetic testing: This type of test is used in conjunction with in vitro fertilization (IVF) to identify genetic changes in embryos before they are implanted in the uterus. It can help couples who have a family history of a genetic disorder or who are at risk of having a child with a genetic condition to conceive a child who is free of the genetic change in question.
* Pharmacogenetic testing: This type of test is used to determine how an individual's genes may affect their response to certain medications. It can help healthcare providers choose the most effective medication and dosage for a patient, reducing the risk of adverse drug reactions.

It is important to note that genetic testing should be performed under the guidance of a qualified healthcare professional who can interpret the results and provide appropriate counseling and support.

Staphylococcal Scalded Skin Syndrome (SSSS) is a cutaneous condition, primarily seen in infants and young children, characterized by widespread, superficial blistering and sloughing of the skin, which gives the appearance of a burn or scald. It's caused by certain strains of Staphylococcus aureus bacteria that produce exfoliative toxins (ETs), specifically ET-A and ET-B, which can cause epidermal separation at the granular layer.

The condition often begins with symptoms such as fever, irritability, and skin tenderness. Within 24 to 48 hours, large, flaccid blisters develop, usually first on the face and perioral area, and then spread to other parts of the body. The blisters are fragile and easily rupture, leading to widespread, shallow areas of denuded skin. The affected areas are red, painful, and can be mistaken for a burn or scald injury.

Despite its appearance, SSSS is not a true infection of the deeper layers of the skin but rather a reaction to the toxins produced by the Staphylococcus aureus bacteria. The condition is usually treated with systemic antibiotics active against Staphylococcus aureus, as well as supportive care for the damaged skin, such as wound dressings and pain management. Prompt treatment typically leads to a good prognosis, although severe cases can lead to complications like dehydration, sepsis, or even death in rare instances.

RecQ helicases are a group of enzymes that belong to the RecQ family, which are named after the E. coli RecQ protein. These helicases play crucial roles in maintaining genomic stability by participating in various DNA metabolic processes such as DNA replication, repair, recombination, and transcription. They are highly conserved across different species, including bacteria, yeast, plants, and mammals.

In humans, there are five RecQ helicases: RECQL1, RECQL4, RECQL5, BLM (RecQ-like helicase), and WRN (Werner syndrome ATP-dependent helicase). Defects in these proteins have been linked to various genetic disorders. For instance, mutations in the BLM gene cause Bloom's syndrome, while mutations in the WRN gene lead to Werner syndrome, both of which are characterized by genomic instability and increased cancer predisposition.

RecQ helicases possess 3'-5' DNA helicase activity, unwinding double-stranded DNA into single strands, and can also perform other functions like branch migration, strand annealing, and removal of protein-DNA crosslinks. Their roles in DNA metabolism help prevent and resolve DNA damage, maintain proper chromosome segregation during cell division, and ensure the integrity of the genome.

Congenital heart defects (CHDs) are structural abnormalities in the heart that are present at birth. They can affect any part of the heart's structure, including the walls of the heart, the valves inside the heart, and the major blood vessels that lead to and from the heart.

Congenital heart defects can range from mild to severe and can cause various symptoms depending on the type and severity of the defect. Some common symptoms of CHDs include cyanosis (a bluish tint to the skin, lips, and fingernails), shortness of breath, fatigue, poor feeding, and slow growth in infants and children.

There are many different types of congenital heart defects, including:

1. Septal defects: These are holes in the walls that separate the four chambers of the heart. The two most common septal defects are atrial septal defect (ASD) and ventricular septal defect (VSD).
2. Valve abnormalities: These include narrowed or leaky valves, which can affect blood flow through the heart.
3. Obstruction defects: These occur when blood flow is blocked or restricted due to narrowing or absence of a part of the heart's structure. Examples include pulmonary stenosis and coarctation of the aorta.
4. Cyanotic heart defects: These cause a lack of oxygen in the blood, leading to cyanosis. Examples include tetralogy of Fallot and transposition of the great arteries.

The causes of congenital heart defects are not fully understood, but genetic factors and environmental influences during pregnancy may play a role. Some CHDs can be detected before birth through prenatal testing, while others may not be diagnosed until after birth or later in childhood. Treatment for CHDs may include medication, surgery, or other interventions to improve blood flow and oxygenation of the body's tissues.

Chromosome disorders are a group of genetic conditions caused by abnormalities in the number or structure of chromosomes. Chromosomes are thread-like structures located in the nucleus of cells that contain most of the body's genetic material, which is composed of DNA and proteins. Normally, humans have 23 pairs of chromosomes, for a total of 46 chromosomes.

Chromosome disorders can result from changes in the number of chromosomes (aneuploidy) or structural abnormalities in one or more chromosomes. Some common examples of chromosome disorders include:

1. Down syndrome: a condition caused by an extra copy of chromosome 21, resulting in intellectual disability, developmental delays, and distinctive physical features.
2. Turner syndrome: a condition that affects only females and is caused by the absence of all or part of one X chromosome, resulting in short stature, lack of sexual development, and other symptoms.
3. Klinefelter syndrome: a condition that affects only males and is caused by an extra copy of the X chromosome, resulting in tall stature, infertility, and other symptoms.
4. Cri-du-chat syndrome: a condition caused by a deletion of part of the short arm of chromosome 5, resulting in intellectual disability, developmental delays, and a distinctive cat-like cry.
5. Fragile X syndrome: a condition caused by a mutation in the FMR1 gene on the X chromosome, resulting in intellectual disability, behavioral problems, and physical symptoms.

Chromosome disorders can be diagnosed through various genetic tests, such as karyotyping, chromosomal microarray analysis (CMA), or fluorescence in situ hybridization (FISH). Treatment for these conditions depends on the specific disorder and its associated symptoms and may include medical interventions, therapies, and educational support.

Ellis-van Creveld syndrome is a rare genetic disorder that affects the development of bones and other organs. It is characterized by short limbs, narrow chest, extra fingers or toes (polydactyly), heart defects, and abnormalities of the teeth and nails. The condition is caused by mutations in the EVC or EVC2 gene and is inherited in an autosomal recessive manner. It is also known as chondroectodermal dysplasia.

Prognosis is a medical term that refers to the prediction of the likely outcome or course of a disease, including the chances of recovery or recurrence, based on the patient's symptoms, medical history, physical examination, and diagnostic tests. It is an important aspect of clinical decision-making and patient communication, as it helps doctors and patients make informed decisions about treatment options, set realistic expectations, and plan for future care.

Prognosis can be expressed in various ways, such as percentages, categories (e.g., good, fair, poor), or survival rates, depending on the nature of the disease and the available evidence. However, it is important to note that prognosis is not an exact science and may vary depending on individual factors, such as age, overall health status, and response to treatment. Therefore, it should be used as a guide rather than a definitive forecast.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Muscle hypotonia, also known as decreased muscle tone, refers to a condition where the muscles appear to be flaccid or lacking in tension and stiffness. This results in reduced resistance to passive movements, making the limbs feel "floppy" or "like a rag doll." It can affect any muscle group in the body and can be caused by various medical conditions, including neurological disorders, genetic diseases, and injuries to the nervous system. Hypotonia should not be confused with muscle weakness, which refers to the inability to generate normal muscle strength.

Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.

Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.

Congenital limb deformities refer to abnormalities in the structure, position, or function of the arms or legs that are present at birth. These deformities can vary greatly in severity and may affect any part of the limb, including the bones, muscles, joints, and nerves.

Congenital limb deformities can be caused by genetic factors, exposure to certain medications or chemicals during pregnancy, or other environmental factors. Some common types of congenital limb deformities include:

1. Clubfoot: A condition in which the foot is twisted out of shape, making it difficult to walk normally.
2. Polydactyly: A condition in which a person is born with extra fingers or toes.
3. Radial clubhand: A rare condition in which the radius bone in the forearm is missing or underdeveloped, causing the hand to turn inward and the wrist to bend.
4. Amniotic band syndrome: A condition in which strands of the amniotic sac wrap around a developing limb, restricting its growth and leading to deformities.
5. Agenesis: A condition in which a limb or part of a limb is missing at birth.

Treatment for congenital limb deformities may include surgery, bracing, physical therapy, or other interventions depending on the severity and nature of the deformity. In some cases, early intervention and treatment can help to improve function and reduce the impact of the deformity on a person's daily life.

Laurence-Moon syndrome is a rare genetic disorder that affects multiple body systems. It is characterized by the combination of retinal degeneration (pigmentary retinopathy), obesity, intellectual disability, polydactyly (extra fingers or toes), and various neurological symptoms such as spastic paraplegia (stiffness and weakness in the legs). The condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the defective gene, one from each parent, to develop the syndrome. It is caused by mutations in the RPGRIP1 or CC2D2A genes.

Progeria, also known as Hutchinson-Gilford Progeria Syndrome (HGPS), is a rare and fatal genetic condition characterized by the rapid aging of children. The term "progeria" comes from the Greek words "pro," meaning prematurely, and "gereas," meaning old age.

Individuals with progeria typically appear normal at birth but begin to display signs of accelerated aging within the first two years of life. These symptoms can include growth failure, loss of body fat and hair, aged-looking skin, joint stiffness, hip dislocation, and cardiovascular disease. The most common cause of death in progeria patients is heart attack or stroke due to widespread atherosclerosis (the hardening and narrowing of the arteries).

Progeria is caused by a mutation in the LMNA gene, which provides instructions for making a protein called lamin A. This protein is essential for the structure and function of the nuclear envelope, the membrane that surrounds the cell's nucleus. The mutation leads to the production of an abnormal form of lamin A called progerin, which accumulates in cells throughout the body, causing premature aging.

There is currently no cure for progeria, and treatment is focused on managing symptoms and complications. Researchers are actively studying potential treatments that could slow or reverse the effects of the disease.

Genetic predisposition to disease refers to an increased susceptibility or vulnerability to develop a particular illness or condition due to inheriting specific genetic variations or mutations from one's parents. These genetic factors can make it more likely for an individual to develop a certain disease, but it does not guarantee that the person will definitely get the disease. Environmental factors, lifestyle choices, and interactions between genes also play crucial roles in determining if a genetically predisposed person will actually develop the disease. It is essential to understand that having a genetic predisposition only implies a higher risk, not an inevitable outcome.

Growth disorders are medical conditions that affect a person's growth and development, leading to shorter or taller stature than expected for their age, sex, and ethnic group. These disorders can be caused by various factors, including genetic abnormalities, hormonal imbalances, chronic illnesses, malnutrition, and psychosocial issues.

There are two main types of growth disorders:

1. Short stature: This refers to a height that is significantly below average for a person's age, sex, and ethnic group. Short stature can be caused by various factors, including genetic conditions such as Turner syndrome or dwarfism, hormonal deficiencies, chronic illnesses, malnutrition, and psychosocial issues.
2. Tall stature: This refers to a height that is significantly above average for a person's age, sex, and ethnic group. Tall stature can be caused by various factors, including genetic conditions such as Marfan syndrome or Klinefelter syndrome, hormonal imbalances, and certain medical conditions like acromegaly.

Growth disorders can have significant impacts on a person's physical, emotional, and social well-being. Therefore, it is essential to diagnose and manage these conditions early to optimize growth and development and improve overall quality of life. Treatment options for growth disorders may include medication, nutrition therapy, surgery, or a combination of these approaches.

Schnitzler Syndrome is a rare autoinflammatory disorder characterized by the recurrent occurrence of erythema (skin rash), often resembling chronic urticaria, and arthralgia or arthritis (joint pain or inflammation). It is typically associated with monoclonal gammopathy, usually of IgM type. Other common features may include fever, lymphadenopathy (swollen lymph nodes), hepatosplenomegaly (enlarged liver and spleen), bone pain, and fatigue. The exact cause of Schnitzler Syndrome is not known, but it is thought to be related to an abnormal immune response. Treatment typically involves the use of medications that suppress the immune system, such as steroids or biologic agents.

Nail-Patella Syndrome (NPS) is a genetic disorder that affects the development of certain bones and organs. It's also known as Fong's syndrome, Hereditary Onycho-Osteodysplasia, or Turner-Kieser syndrome. The name comes from its most prominent features: abnormalities of the nails and kneecaps (patellae).

The main characteristics of NPS include:

1. Nail changes: These are often the first sign of the condition. The nails may be thin, underdeveloped, or absent, especially on the thumbs and index fingers. They can also be ridged, pitted, or discolored.

2. Patella (kneecap) abnormalities: About 70% of people with NPS have kneecaps that are small, irregularly shaped, or displaced from their normal position. This can cause knee pain and instability.

3. Elbow abnormalities: People with NPS may have elbow deformities, such as dislocated radial heads (one of the bones in the forearm).

4. Illic crest (pelvic bone) abnormalities: Some people with NPS have iliac horns, which are bony growths on the pelvis that don't cause any symptoms but can be detected through imaging tests.

5. Glaucoma: Around 10% of individuals with NPS develop glaucoma, a condition characterized by increased pressure within the eye, leading to optic nerve damage and potential vision loss if left untreated.

6. Kidney issues: Up to 40% of people with NPS experience kidney problems, such as proteinuria (excessive protein in urine) or kidney failure.

Nail-Patella Syndrome is caused by mutations in the LMX1B gene and is inherited in an autosomal dominant manner, meaning that only one copy of the altered gene is needed to cause the disorder. However, about 20% to 30% of cases result from new mutations and have no family history of the condition.

Human chromosome pair 15 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each chromosome is made up of DNA tightly coiled around histone proteins, forming a complex structure called a chromatin.

Chromosomes come in pairs, with one chromosome inherited from each parent. Chromosome pair 15 includes two homologous chromosomes, meaning they have the same size, shape, and gene content but may contain slight variations in their DNA sequences.

These chromosomes play a crucial role in inheritance and the development and function of the human body. Chromosome pair 15 contains around 100 million base pairs of DNA and approximately 700 protein-coding genes, which are involved in various biological processes such as growth, development, metabolism, and regulation of gene expression.

Abnormalities in chromosome pair 15 can lead to genetic disorders, including Prader-Willi syndrome and Angelman syndrome, which are caused by the loss or alteration of specific regions on chromosome 15.

Cryopyrin-Associated Periodic Syndromes (CAPS) are a group of rare, hereditary autoinflammatory disorders caused by mutations in the NLRP3 gene, which encodes the cryopyrin protein. The mutation leads to overactivation of the inflammasome, an intracellular complex that regulates the activation of inflammatory cytokines, resulting in uncontrolled inflammation.

CAPS include three clinical subtypes:

1. Familial Cold Autoinflammatory Syndrome (FCAS): This is the mildest form of CAPS and typically presents in infancy or early childhood with recurrent episodes of fever, urticaria-like rash, and joint pain triggered by cold exposure.
2. Muckle-Wells Syndrome (MWS): This subtype is characterized by more severe symptoms than FCAS, including recurrent fever, urticaria-like rash, joint pain, and progressive hearing loss. Patients with MWS are also at risk for developing amyloidosis, a serious complication that can lead to kidney failure.
3. Neonatal-Onset Multisystem Inflammatory Disease (NOMID): Also known as chronic infantile neurological cutaneous and articular syndrome (CINCA), this is the most severe form of CAPS. It presents at birth or in early infancy with fever, urticaria-like rash, joint inflammation, and central nervous system involvement, including chronic meningitis, developmental delay, and hearing loss.

Treatment for CAPS typically involves targeted therapies that block the overactive inflammasome, such as IL-1 inhibitors. Early diagnosis and treatment can help prevent long-term complications and improve quality of life for patients with these disorders.

Immune Reconstitution Inflammatory Syndrome (IRIS) is not a disease itself, but rather a reaction that can occur in some individuals who have a weakened immune system and then receive treatment to restore their immune function.

IRIS is defined as a paradoxical clinical worsening or appearance of new symptoms following the initiation of antiretroviral therapy (ART) in HIV-infected patients, or after the administration of other immunomodulatory agents in patients with other types of immune deficiency.

This reaction is thought to be due to an overactive immune response to opportunistic infections or malignancies that were present but not causing symptoms while the patient's immune system was severely compromised. As the immune system begins to recover, it may mount a strong inflammatory response to these underlying infections or cancers, leading to worsening of symptoms or the development of new ones.

IRIS can affect various organs and systems, causing a wide range of clinical manifestations. The most common opportunistic infections associated with IRIS include Mycobacterium avium complex (MAC), Cytomegalovirus (CMV), Pneumocystis jirovecii pneumonia (PJP), and Cryptococcus neoformans.

The management of IRIS involves a careful balance between continuing the immune-restoring therapy and providing appropriate treatment for the underlying infection or malignancy, while also managing the inflammatory response with anti-inflammatory medications if necessary.

Hereditary nephritis is a genetic disorder that causes recurring inflammation of the kidneys' glomeruli, which are the tiny blood vessel clusters that filter waste from the blood. This condition is also known as hereditary glomerulonephritis.

The inherited form of nephritis is caused by mutations in specific genes, leading to abnormalities in the proteins responsible for maintaining the structural integrity and proper functioning of the glomeruli. As a result, affected individuals typically experience hematuria (blood in urine), proteinuria (protein in urine), hypertension (high blood pressure), and progressive kidney dysfunction that can ultimately lead to end-stage renal disease (ESRD).

There are different types of hereditary nephritis, such as Alport syndrome and thin basement membrane nephropathy. These conditions have distinct genetic causes, clinical presentations, and inheritance patterns. Early diagnosis and appropriate management can help slow the progression of kidney damage and improve long-term outcomes for affected individuals.

Congenital foot deformities refer to abnormal structural changes in the foot that are present at birth. These deformities can vary from mild to severe and may affect the shape, position, or function of one or both feet. Common examples include clubfoot (talipes equinovarus), congenital vertical talus, and cavus foot. Congenital foot deformities can be caused by genetic factors, environmental influences during fetal development, or a combination of both. Treatment options may include stretching, casting, surgery, or a combination of these approaches, depending on the severity and type of the deformity.

Heterotaxy syndrome is a rare and complex congenital disorder characterized by the abnormal lateralization or arrangement of internal organs in the chest and abdomen. In this condition, the normal left-right (LR) asymmetry of the thoracic and abdominal organs is disrupted, resulting in either complete or partial reversal of the usual LR orientation. The term "heterotaxy" literally means "different arrangement."

Heterotaxy syndrome can be further classified into two main types:

1. **Ivemark's syndrome** (or left atrial isomerism): In this type, there is a mirror-image reversal of the normal LR organization of the thoracic and abdominal organs. This results in both sides of the body having structures that are typically found on the left side (left atrial isomerism). Common features include:
* Complete heart block or complex congenital heart defects, such as transposition of the great arteries, double outlet right ventricle, and total anomalous pulmonary venous return.
* Bilateral bilobed lungs with a central location of the liver (situs ambiguus).
* Bronchial malformations, including bilateral eparterial bronchi.
* Gastrointestinal tract abnormalities, such as intestinal malrotation and biliary atresia.
* Increased incidence of situs inversus totalis (complete mirror-image reversal of the normal LR arrangement).

2. **Right atrial isomerism** (or asplenia syndrome): In this type, there is a lack of normal LR organization, and both sides of the body have structures that are typically found on the right side (right atrial isomerism). Common features include:
* Complex congenital heart defects, such as single ventricle, double outlet right ventricle, pulmonary stenosis or atresia, and total anomalous pulmonary venous return.
* Absent or multiple spleens (polysplenia) with varying degrees of functional asplenia.
* Bilateral trilobed lungs with a right-sided location of the liver (situs ambiguus).
* Bronchial malformations, including bilateral hyperarterial bronchi.
* Gastrointestinal tract abnormalities, such as intestinal malrotation and biliary atresia.
* Increased incidence of congenital diaphragmatic hernia.

Both situs ambiguus and heterotaxy syndrome are associated with increased morbidity and mortality due to the complex congenital heart defects, gastrointestinal tract abnormalities, and immunological dysfunction in cases of asplenia or hyposplenia. Early diagnosis and management by a multidisciplinary team are crucial for improving outcomes in these patients.

Gilbert's disease, also known as Gilbert's syndrome, is a common and mild condition characterized by **intermittent** elevations in bilirubin levels in the bloodstream without any evidence of liver damage or disease. Bilirubin is a yellowish pigment that forms when hemoglobin breaks down. Normally, it gets processed in the liver and excreted through bile.

In Gilbert's disease, there is an impaired ability to conjugate bilirubin due to a deficiency or dysfunction of the enzyme UDP-glucuronosyltransferase 1A1 (UGT1A1), which is responsible for the glucuronidation process. This results in mild unconjugated hyperbilirubinemia, where bilirubin levels may rise and cause mild jaundice, particularly during times of fasting, illness, stress, or dehydration.

Gilbert's disease is typically an incidental finding, as it usually does not cause any significant symptoms or complications. It is often discovered during routine blood tests when bilirubin levels are found to be slightly elevated. The condition is usually harmless and does not require specific treatment, but avoiding triggers like fasting or dehydration may help minimize the occurrence of jaundice.

Dry eye syndrome, also known as keratoconjunctivitis sicca, is a condition characterized by insufficient lubrication and moisture of the eyes. This occurs when the tears produced by the eyes are not sufficient in quantity or quality to keep the eyes moist and comfortable. The medical definition of dry eye syndromes includes the following symptoms:

1. A gritty or sandy sensation in the eyes
2. Burning or stinging sensations
3. Redness and irritation
4. Blurred vision that improves with blinking
5. Light sensitivity
6. A feeling of something foreign in the eye
7. Stringy mucus in or around the eyes
8. Difficulty wearing contact lenses
9. Watery eyes, which may seem contradictory but can be a response to dryness
10. Eye fatigue and discomfort after prolonged screen time or reading

The causes of dry eye syndromes can include aging, hormonal changes, certain medical conditions (such as diabetes, rheumatoid arthritis, lupus, Sjogren's syndrome), medications (antihistamines, decongestants, antidepressants, birth control pills), environmental factors (dry air, wind, smoke, dust), and prolonged screen time or reading.

Treatment for dry eye syndromes depends on the severity of the condition and its underlying causes. It may include artificial tears, lifestyle changes, prescription medications, and in some cases, surgical procedures to improve tear production or drainage.

In medical terms, the face refers to the front part of the head that is distinguished by the presence of the eyes, nose, and mouth. It includes the bones of the skull (frontal bone, maxilla, zygoma, nasal bones, lacrimal bones, palatine bones, inferior nasal conchae, and mandible), muscles, nerves, blood vessels, skin, and other soft tissues. The face plays a crucial role in various functions such as breathing, eating, drinking, speaking, seeing, smelling, and expressing emotions. It also serves as an important identifier for individuals, allowing them to be recognized by others.

NAV1.5, also known as SCN5A, is a specific type of voltage-gated sodium channel found in the heart muscle cells (cardiomyocytes). These channels play a crucial role in the generation and transmission of electrical signals that coordinate the contraction of the heart.

More specifically, NAV1.5 channels are responsible for the rapid influx of sodium ions into cardiomyocytes during the initial phase of the action potential, which is the electrical excitation of the cell. This rapid influx of sodium ions helps to initiate and propagate the action potential throughout the heart muscle, allowing for coordinated contraction and proper heart function.

Mutations in the SCN5A gene, which encodes the NAV1.5 channel, have been associated with various cardiac arrhythmias, including long QT syndrome, Brugada syndrome, and familial atrial fibrillation, among others. These genetic disorders can lead to abnormal heart rhythms, syncope, and in some cases, sudden cardiac death.

Failed Back Surgery Syndrome (FBSS) is not a formally recognized medical diagnosis, but rather a term that is used to describe the condition of patients who continue to experience chronic pain in the spine or legs after having undergone one or more spinal surgeries. FBSS does not necessarily mean that the surgery was performed incorrectly, but rather that it did not achieve the desired outcome of relieving the patient's pain.

The symptoms of FBSS can vary from person to person, but often include chronic pain in the back or legs, numbness or tingling sensations, muscle weakness, and decreased mobility. The exact cause of FBSS is not always clear, but it may be due to a variety of factors, such as nerve damage, scar tissue formation, or continued spinal instability.

Treatment for FBSS typically involves a multidisciplinary approach that may include medication, physical therapy, injections, and psychological support. In some cases, additional surgery may be recommended, but this is usually considered a last resort due to the risks involved and the fact that previous surgeries have not been successful.

Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.

The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.

Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.

Sensorineural hearing loss (SNHL) is a type of hearing impairment that occurs due to damage to the inner ear (cochlea) or to the nerve pathways from the inner ear to the brain. It can be caused by various factors such as aging, exposure to loud noises, genetics, certain medical conditions (like diabetes and heart disease), and ototoxic medications.

SNHL affects the ability of the hair cells in the cochlea to convert sound waves into electrical signals that are sent to the brain via the auditory nerve. As a result, sounds may be perceived as muffled, faint, or distorted, making it difficult to understand speech, especially in noisy environments.

SNHL is typically permanent and cannot be corrected with medication or surgery, but hearing aids or cochlear implants can help improve communication and quality of life for those affected.

Tarsal Tunnel Syndrome (TTS) is a compressive neuropathy of the tibial nerve as it passes through the tarsal tunnel, a fibro-osseous canal formed by the medial malleolus and the talus bones on the inner ankle. The tibial nerve and its branches provide sensory innervation to the sole of the foot and motor function to several muscles in the lower leg and foot.

In TTS, increased pressure or compression within the tarsal tunnel leads to entrapment of the tibial nerve or its branches, resulting in pain, numbness, tingling, or burning sensations along the distribution of the affected nerves. Common causes include space-occupying lesions (e.g., ganglion cysts, varicosities), trauma, tenosynovitis, or systemic conditions like diabetes and rheumatoid arthritis.

Diagnosis typically involves a thorough clinical examination, including the patient's history, physical examination, and specialized tests such as nerve conduction studies and electromyography (EMG). Treatment options may include conservative measures like immobilization, orthotics, nonsteroidal anti-inflammatory drugs (NSAIDs), or corticosteroid injections. In severe cases or when conservative treatments fail, surgical decompression of the tarsal tunnel might be necessary to alleviate symptoms and prevent further nerve damage.

Wolf-Hirschhorn Syndrome (WHS) is a rare genetic disorder characterized by distinctive facial features, intellectual disability, growth retardation, seizures, and various other physical abnormalities. It is caused by a deletion of genetic material from the short arm of chromosome 4 (4p-). The size of the deletion and the specific genes involved can vary, leading to differences in the severity and range of symptoms among affected individuals.

The medical definition of Wolf-Hirschhorn Syndrome is:

A genetic disorder caused by a partial deletion of the short arm of chromosome 4 (4p16.3). The syndrome is characterized by distinctive facial features including a broad and straight nose, wide-set eyes, an underdeveloped jaw, and a prominent forehead; intellectual disability; growth retardation; seizures; and various other physical abnormalities such as heart defects, hearing loss, kidney problems, and skeletal abnormalities. The severity of the symptoms can vary widely among affected individuals.

Gerstmann syndrome is a rare neurological disorder primarily characterized by the following four symptoms:
1. Finger agnosia - inability to identify or recognize fingers on their own hand, often struggling to distinguish between similar fingers like index and middle finger.
2. Left-right disorientation - difficulty determining left from right, sometimes affecting body awareness and spatial orientation.
3. Agraphia - an impairment in writing abilities, including difficulties with spelling, grammar, or composing coherent texts.
4. Acalculia - inability to perform basic arithmetic calculations or have trouble understanding numerical concepts.

These symptoms are typically associated with damage to the dominant parietal lobe, specifically within the angular gyrus region of the brain. Gerstmann syndrome is often observed in individuals who have experienced stroke, brain injury, or other forms of neurological damage. It's important to note that not all individuals with Gerstmann syndrome will exhibit all four symptoms, and some may experience additional cognitive or motor impairments depending on the extent of the brain damage.

Polymerase Chain Reaction (PCR) is a laboratory technique used to amplify specific regions of DNA. It enables the production of thousands to millions of copies of a particular DNA sequence in a rapid and efficient manner, making it an essential tool in various fields such as molecular biology, medical diagnostics, forensic science, and research.

The PCR process involves repeated cycles of heating and cooling to separate the DNA strands, allow primers (short sequences of single-stranded DNA) to attach to the target regions, and extend these primers using an enzyme called Taq polymerase, resulting in the exponential amplification of the desired DNA segment.

In a medical context, PCR is often used for detecting and quantifying specific pathogens (viruses, bacteria, fungi, or parasites) in clinical samples, identifying genetic mutations or polymorphisms associated with diseases, monitoring disease progression, and evaluating treatment effectiveness.

Meigs syndrome is a rare medical condition characterized by the combination of ovarian tumor (most commonly fibroma or thecoma), ascites (abnormal accumulation of fluid in the abdominal cavity), and pleural effusion (fluid accumulation around the lungs). The hallmark feature of this syndrome is that all these symptoms resolve after the removal of the ovarian tumor.

It's important to note that not all women with ovarian tumors will develop Meigs syndrome, and its exact cause remains unclear. It primarily affects middle-aged women and is typically diagnosed through imaging tests (such as ultrasound or CT scan) and the exclusion of other possible causes of ascites and pleural effusion.

After surgical removal of the ovarian tumor, the ascites and pleural effusion usually resolve on their own within a few months. Meigs syndrome is not considered a malignant condition, but regular follow-ups are necessary to monitor for any potential recurrence of the ovarian tumor or development of other health issues.

In epidemiology, the incidence of a disease is defined as the number of new cases of that disease within a specific population over a certain period of time. It is typically expressed as a rate, with the number of new cases in the numerator and the size of the population at risk in the denominator. Incidence provides information about the risk of developing a disease during a given time period and can be used to compare disease rates between different populations or to monitor trends in disease occurrence over time.

Autoantibodies are defined as antibodies that are produced by the immune system and target the body's own cells, tissues, or organs. These antibodies mistakenly identify certain proteins or molecules in the body as foreign invaders and attack them, leading to an autoimmune response. Autoantibodies can be found in various autoimmune diseases such as rheumatoid arthritis, lupus, and thyroiditis. The presence of autoantibodies can also be used as a diagnostic marker for certain conditions.

Postphlebitic syndrome, also known as postthrombotic syndrome or post-thrombotic limb, is a long-term complication that can occur after deep vein thrombosis (DVT). It's characterized by chronic venous insufficiency due to damage in the valves and walls of the affected veins. This results in impaired return of blood from the extremities back to the heart, leading to symptoms such as:

1. Swelling (edema) in the affected limb, usually the lower leg or calf.
2. Pain, aching, or cramping in the legs.
3. Heaviness or fatigue in the legs.
4. Skin changes like redness, warmth, or itchiness.
5. Development of venous ulcers or sores, particularly around the ankles.

The severity of postphlebitic syndrome can vary from mild to severe and may significantly impact a person's quality of life. Risk factors for developing this condition include having had a previous DVT, obesity, older age, lack of physical activity, and a family history of blood clotting disorders. Early diagnosis and appropriate management of deep vein thrombosis can help reduce the risk of developing postphlebitic syndrome.

Kleine-Levin Syndrome (KLS) is a rare and complex neurological disorder characterized by recurring episodes of excessive sleep (hypersomnia), often accompanied by cognitive impairment, altered perception, and behavioral changes. These episodes can last for days or even weeks. The exact cause of KLS remains unknown, but it's thought to involve dysfunction in the hypothalamus and/or thalamus regions of the brain. It primarily affects adolescents, with males being more commonly affected than females. Diagnosis is typically made based on clinical symptoms, as there are no specific diagnostic tests for KLS. Treatment usually involves managing individual symptoms and may include stimulant medications to help reduce excessive sleepiness during episodes.

Postthrombotic syndrome (PTS), also known as postphlebitic syndrome, is a chronic complication that can occur after deep vein thrombosis (DVT). It's characterized by a combination of symptoms including pain, swelling, cramping, itching, and skin changes in the affected limb. PTS happens when the damaged valves in the veins are unable to properly move blood back to the heart, leading to venous hypertension and fluid accumulation in the lower extremities.

The symptoms of PTS can vary in severity, but they often worsen with prolonged standing or sitting. In some cases, patients may develop open sores (ulcers) on the skin, particularly around the ankles. The risk of developing PTS is higher in individuals who have experienced a recurrent DVT, those with more extensive clotting, and those who do not receive appropriate anticoagulation therapy after their initial DVT diagnosis.

Preventive measures such as early mobilization, use of compression stockings, and maintaining adequate anticoagulation can help reduce the risk of developing PTS following a DVT.

Shoulder Impingement Syndrome is a common cause of shoulder pain, characterized by pinching or compression of the rotator cuff tendons and/or bursa between the humeral head and the acromion process of the scapula. This often results from abnormal contact between these structures due to various factors such as:

1. Bony abnormalities (e.g., bone spurs)
2. Tendon inflammation or thickening
3. Poor biomechanics during shoulder movements
4. Muscle imbalances and weakness, particularly in the rotator cuff and scapular stabilizers
5. Aging and degenerative changes

The syndrome is typically classified into two types: primary (or structural) impingement, which involves bony abnormalities; and secondary impingement, which is related to functional or muscular imbalances. Symptoms often include pain, especially during overhead activities, weakness, and limited range of motion in the shoulder. Diagnosis typically involves a combination of physical examination, patient history, and imaging studies such as X-rays or MRI scans. Treatment may involve activity modification, physical therapy, nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroid injections, and, in some cases, surgical intervention.

A homozygote is an individual who has inherited the same allele (version of a gene) from both parents and therefore possesses two identical copies of that allele at a specific genetic locus. This can result in either having two dominant alleles (homozygous dominant) or two recessive alleles (homozygous recessive). In contrast, a heterozygote has inherited different alleles from each parent for a particular gene.

The term "homozygote" is used in genetics to describe the genetic makeup of an individual at a specific locus on their chromosomes. Homozygosity can play a significant role in determining an individual's phenotype (observable traits), as having two identical alleles can strengthen the expression of certain characteristics compared to having just one dominant and one recessive allele.

Susac syndrome, also known as retinocochleocerebral vasculopathy, is a rare autoimmune disorder characterized by the inflammation and damage to small blood vessels in the brain, retina, and inner ear. It primarily affects young adults, particularly women, and can lead to various neurological, auditory, and visual symptoms.

The medical definition of Susac syndrome includes:

1. Encephalopathy (brain dysfunction) - This is characterized by headaches, cognitive impairment, behavioral changes, seizures, or psychiatric symptoms due to inflammation in the brain.
2. Branch retinal artery occlusions (BRAO) - These are blockages of small blood vessels in the retina, leading to visual disturbances such as blurry vision, scotomas (blind spots), or even permanent vision loss.
3. Sensorineural hearing loss - This is caused by damage to the inner ear structures responsible for hearing, resulting in difficulties with hearing, tinnitus (ringing in the ears), or vertigo (dizziness).

The triad of these symptoms is necessary for a definitive diagnosis of Susac syndrome. However, not all patients may present with all three components simultaneously. The presence of any two features should raise suspicion for this condition, and further diagnostic workup is required to confirm the diagnosis. Early recognition and treatment are crucial to prevent long-term complications and improve outcomes in patients with Susac syndrome.

Chromosome mapping, also known as physical mapping, is the process of determining the location and order of specific genes or genetic markers on a chromosome. This is typically done by using various laboratory techniques to identify landmarks along the chromosome, such as restriction enzyme cutting sites or patterns of DNA sequence repeats. The resulting map provides important information about the organization and structure of the genome, and can be used for a variety of purposes, including identifying the location of genes associated with genetic diseases, studying evolutionary relationships between organisms, and developing genetic markers for use in breeding or forensic applications.

Obesity Hypoventilation Syndrome (OHS) is a medical condition characterized by the presence of obesity (generally defined as a body mass index of 30 or higher) and chronic hypoventilation, which means that the person is not breathing adequately, resulting in low levels of oxygen and high levels of carbon dioxide in the blood.

In OHS, the excess weight of the chest walls makes it difficult for the respiratory muscles to work effectively, leading to reduced lung volumes and impaired gas exchange. This results in chronic hypoxemia (low oxygen levels) and hypercapnia (high carbon dioxide levels) during wakefulness and sleep.

OHS is often associated with obstructive sleep apnea (OSA), a condition characterized by repeated episodes of upper airway obstruction during sleep, which can further exacerbate hypoventilation. However, not all patients with OHS have OSA, and vice versa.

The diagnosis of OHS is typically made based on the presence of obesity, chronic hypoventilation (as evidenced by elevated arterial carbon dioxide levels), and the absence of other causes of hypoventilation. Treatment usually involves the use of non-invasive ventilation to support breathing and improve gas exchange, as well as weight loss interventions to address the underlying obesity.

Scimitar Syndrome, also known as "congenital venolobar syndrome," is a rare congenital heart defect characterized by the following features:

1. An anomalous pulmonary vein (or veins) that drains into the inferior vena cava or right atrium instead of the left atrium. This vein often has a curved, scimitar-like appearance on imaging studies, hence the name of the syndrome.
2. Hypoplasia (underdevelopment) of the right lung or part of the right lung, which is often associated with abnormalities of the pulmonary artery and bronchial tree in that area.
3. Cardiac shunting, either from left to right (resulting in increased blood flow to the lungs) or right to left (resulting in cyanosis).
4. Other congenital heart defects may also be present, such as atrial septal defect, ventricular septal defect, or patent ductus arteriosus.

Symptoms of Scimitar Syndrome can vary widely depending on the severity of the anomaly and associated cardiac shunting. Mild cases may be asymptomatic, while severe cases can present with respiratory distress, heart failure, or cyanosis in infancy or early childhood. Treatment typically involves surgical correction of the anomalous pulmonary vein and any associated cardiac defects.

Nelson's syndrome is a rare condition that occurs in some patients with a history of Cushing's disease who have undergone bilateral adrenalectomy (removal of both adrenal glands). Following the surgery, these patients may develop enlargement of the pituitary gland (pituitary tumor) and increased production of ACTH (adrenocorticotropic hormone) from the remaining pituitary tissue. This results in hyperpigmentation of the skin due to the melanocyte-stimulating property of ACTH, as well as other symptoms related to hormonal imbalance. It is named after the endocrinologist Don Nelson who first described this condition in 1958.

Prune Belly Syndrome, also known as Eagle-Barrett syndrome, is a rare congenital disorder that primarily affects the urinary and digestive systems, as well as the abdominal wall. The condition is named for its most distinctive feature - a wrinkled, shrunken appearance of the abdomen, similar to a prune.

The medical definition of Prune Belly Syndrome includes the following major characteristics:

1. Absence or severe deficiency of the abdominal muscles: This results in the characteristic "prune belly" appearance and may also lead to respiratory issues due to weakened breathing muscles.
2. Urinary tract abnormalities: These can include dilated urinary tracts, undescended testes, and various kidney defects such as dysplastic (abnormally developed) or hypoplastic (underdeveloped) kidneys. Approximately 1 in 3 patients with Prune Belly Syndrome will develop chronic kidney disease.
3. Gastrointestinal abnormalities: These may include intestinal malrotation, constipation, and a higher risk of developing inguinal hernias.

Prune Belly Syndrome occurs almost exclusively in males, with an estimated incidence of 1 in 30,000 to 40,000 live births. The exact cause of the condition is unknown, but it is believed to result from a combination of genetic and environmental factors during fetal development. Treatment typically involves a multidisciplinary approach, addressing both surgical interventions for urinary tract abnormalities and supportive care for respiratory and gastrointestinal issues.

"Age factors" refer to the effects, changes, or differences that age can have on various aspects of health, disease, and medical care. These factors can encompass a wide range of issues, including:

1. Physiological changes: As people age, their bodies undergo numerous physical changes that can affect how they respond to medications, illnesses, and medical procedures. For example, older adults may be more sensitive to certain drugs or have weaker immune systems, making them more susceptible to infections.
2. Chronic conditions: Age is a significant risk factor for many chronic diseases, such as heart disease, diabetes, cancer, and arthritis. As a result, age-related medical issues are common and can impact treatment decisions and outcomes.
3. Cognitive decline: Aging can also lead to cognitive changes, including memory loss and decreased decision-making abilities. These changes can affect a person's ability to understand and comply with medical instructions, leading to potential complications in their care.
4. Functional limitations: Older adults may experience physical limitations that impact their mobility, strength, and balance, increasing the risk of falls and other injuries. These limitations can also make it more challenging for them to perform daily activities, such as bathing, dressing, or cooking.
5. Social determinants: Age-related factors, such as social isolation, poverty, and lack of access to transportation, can impact a person's ability to obtain necessary medical care and affect their overall health outcomes.

Understanding age factors is critical for healthcare providers to deliver high-quality, patient-centered care that addresses the unique needs and challenges of older adults. By taking these factors into account, healthcare providers can develop personalized treatment plans that consider a person's age, physical condition, cognitive abilities, and social circumstances.

Patellofemoral Pain Syndrome (PFPS) is a broad term used to describe pain arising from the front of the knee, specifically where the patella (kneecap) meets the femur (thigh bone). It is often described as a diffuse, aching pain in the anterior knee, typically worsening with activities that load the patellofemoral joint such as climbing stairs, running, jumping or prolonged sitting.

PFPS can be caused by various factors including overuse, muscle imbalances, poor biomechanics, or abnormal tracking of the patella. Treatment usually involves a combination of physical therapy to improve strength and flexibility, activity modification, and sometimes bracing or orthotics for better alignment.

Hyperandrogenism is a medical condition characterized by excessive levels of androgens (male sex hormones) in the body. This can lead to various symptoms such as hirsutism (excessive hair growth), acne, irregular menstrual periods, and infertility in women. It can be caused by conditions like polycystic ovary syndrome (PCOS), congenital adrenal hyperplasia, and tumors in the ovaries or adrenal glands. Proper diagnosis and management of hyperandrogenism is important to prevent complications and improve quality of life.

Lipoid nephrosis is a historical term for a kidney disorder now more commonly referred to as minimal change disease (MCD). It is a type of glomerulonephritis which is characterized by the loss of proteins in the urine (proteinuria) due to damage to the glomeruli, the tiny filtering units within the kidneys.

The term "lipoid" refers to the presence of lipids or fats in the glomeruli, which can be observed under a microscope. However, it's worth noting that not all cases of MCD involve lipid accumulation in the glomeruli.

MCD is typically idiopathic, meaning its cause is unknown, but it can also occur as a secondary condition related to other medical disorders such as allergies, infections, or medications. It primarily affects children, but can also occur in adults. Treatment usually involves corticosteroids and other immunosuppressive therapies to control proteinuria and prevent kidney damage.

Risk assessment in the medical context refers to the process of identifying, evaluating, and prioritizing risks to patients, healthcare workers, or the community related to healthcare delivery. It involves determining the likelihood and potential impact of adverse events or hazards, such as infectious diseases, medication errors, or medical devices failures, and implementing measures to mitigate or manage those risks. The goal of risk assessment is to promote safe and high-quality care by identifying areas for improvement and taking action to minimize harm.

A cross-sectional study is a type of observational research design that examines the relationship between variables at one point in time. It provides a snapshot or a "cross-section" of the population at a particular moment, allowing researchers to estimate the prevalence of a disease or condition and identify potential risk factors or associations.

In a cross-sectional study, data is collected from a sample of participants at a single time point, and the variables of interest are measured simultaneously. This design can be used to investigate the association between exposure and outcome, but it cannot establish causality because it does not follow changes over time.

Cross-sectional studies can be conducted using various data collection methods, such as surveys, interviews, or medical examinations. They are often used in epidemiology to estimate the prevalence of a disease or condition in a population and to identify potential risk factors that may contribute to its development. However, because cross-sectional studies only provide a snapshot of the population at one point in time, they cannot account for changes over time or determine whether exposure preceded the outcome.

Therefore, while cross-sectional studies can be useful for generating hypotheses and identifying potential associations between variables, further research using other study designs, such as cohort or case-control studies, is necessary to establish causality and confirm any findings.

Brown-Sequard Syndrome is a type of incomplete spinal cord injury, which affects one side of the spinal cord. It is named after the French neurologist Charles-Édouard Brown-Séquard who first described it in 1850.

This syndrome occurs when there is damage to one half or side of the spinal cord, usually due to a traumatic injury such as a stab or gunshot wound, a fracture or dislocation of the spine, or a tumor. As a result, the transmission of nerve impulses is interrupted on the same side of the body where the injury occurred, leading to motor and sensory deficits below the level of the lesion.

The symptoms of Brown-Sequard Syndrome may include:

1. Loss of motor function (paralysis) on the same side of the body as the injury, below the level of the lesion.
2. Loss of pain and temperature sensation on the opposite side of the body as the injury, below the level of the lesion.
3. Preservation of touch, vibration, and proprioception (position sense) on the same side of the body as the injury, below the level of the lesion.
4. Autonomic dysfunction, such as changes in blood pressure, heart rate, and sweating, may also occur.

The treatment for Brown-Sequard Syndrome typically involves a combination of medications to manage pain and prevent complications, rehabilitation therapies to help regain function, and possibly surgery to repair the underlying injury or remove any compressive lesions. The prognosis for recovery varies depending on the severity and location of the injury, as well as the age and overall health of the individual.

Lemierre Syndrome, also known as post-anginal septicemia or necrobacillosis, is a rare but serious medical condition that typically follows a recent pharyngitis (throat infection) or upper respiratory tract infection. It is characterized by the spread of infection from the oropharynx to the internal jugular vein and subsequent septicemia (bloodstream infection), leading to metastatic infectious complications, most commonly affecting the lungs. The causative organism is usually a bacterium called Fusobacterium necrophorum.

The syndrome was first described by French physician André Lemierre in 1936. Symptoms may include fever, chills, severe neck pain and stiffness, difficulty swallowing, swelling of the jaw or neck, shortness of breath, and the formation of abscesses in various parts of the body. Rapid diagnosis and appropriate antibiotic treatment are crucial to prevent potentially life-threatening complications.

Unstable angina is a term used in cardiology to describe chest pain or discomfort that occurs suddenly and unexpectedly, often at rest or with minimal physical exertion. It is caused by an insufficient supply of oxygen-rich blood to the heart muscle due to reduced blood flow, typically as a result of partial or complete blockage of the coronary arteries.

Unlike stable angina, which tends to occur predictably during physical activity and can be relieved with rest or nitroglycerin, unstable angina is more severe, unpredictable, and may not respond to traditional treatments. It is considered a medical emergency because it can be a sign of an impending heart attack or other serious cardiac event.

Unstable angina is often treated in the hospital with medications such as nitroglycerin, beta blockers, calcium channel blockers, and antiplatelet agents to improve blood flow to the heart and prevent further complications. In some cases, more invasive treatments such as coronary angioplasty or bypass surgery may be necessary to restore blood flow to the affected areas of the heart.

An amino acid sequence is the specific order of amino acids in a protein or peptide molecule, formed by the linking of the amino group (-NH2) of one amino acid to the carboxyl group (-COOH) of another amino acid through a peptide bond. The sequence is determined by the genetic code and is unique to each type of protein or peptide. It plays a crucial role in determining the three-dimensional structure and function of proteins.

Body Mass Index (BMI) is a measure used to assess whether a person has a healthy weight for their height. It's calculated by dividing a person's weight in kilograms by the square of their height in meters. Here is the medical definition:

Body Mass Index (BMI) = weight(kg) / [height(m)]^2

According to the World Health Organization, BMI categories are defined as follows:

* Less than 18.5: Underweight
* 18.5-24.9: Normal or healthy weight
* 25.0-29.9: Overweight
* 30.0 and above: Obese

It is important to note that while BMI can be a useful tool for identifying weight issues in populations, it does have limitations when applied to individuals. For example, it may not accurately reflect body fat distribution or muscle mass, which can affect health risks associated with excess weight. Therefore, BMI should be used as one of several factors when evaluating an individual's health status and risk for chronic diseases.

Sex chromosome aberrations refer to structural and numerical abnormalities in the sex chromosomes, which are typically represented as X and Y chromosomes in humans. These aberrations can result in variations in the number of sex chromosomes, such as Klinefelter syndrome (47,XXY), Turner syndrome (45,X), and Jacobs/XYY syndrome (47,XYY). They can also include structural changes, such as deletions, duplications, or translocations of sex chromosome material.

Sex chromosome aberrations may lead to a range of phenotypic effects, including differences in physical characteristics, cognitive development, fertility, and susceptibility to certain health conditions. The manifestation and severity of these impacts can vary widely depending on the specific type and extent of the aberration, as well as individual genetic factors and environmental influences.

It is important to note that while sex chromosome aberrations may pose challenges and require medical management, they do not inherently define or limit a person's potential, identity, or worth. Comprehensive care, support, and education can help individuals with sex chromosome aberrations lead fulfilling lives and reach their full potential.

Paraneoplastic syndromes of the nervous system are a group of rare disorders that occur in some individuals with cancer. These syndromes are caused by an immune system response to the cancer tumor, which can lead to the damage or destruction of nerve cells. The immune system produces antibodies and/or activated immune cells that attack the neural tissue, leading to neurological symptoms.

Paraneoplastic syndromes can affect any part of the nervous system, including the brain, spinal cord, peripheral nerves, and muscles. Symptoms vary depending on the specific syndrome and the location of the affected nerve tissue. Some common neurological symptoms include muscle weakness, numbness or tingling, seizures, memory loss, confusion, difficulty speaking or swallowing, visual disturbances, and coordination problems.

Paraneoplastic syndromes are often associated with specific types of cancer, such as small cell lung cancer, breast cancer, ovarian cancer, and lymphoma. Diagnosis can be challenging because the symptoms may precede the discovery of the underlying cancer. A combination of clinical evaluation, imaging studies, laboratory tests, and sometimes a brain biopsy may be necessary to confirm the diagnosis.

Treatment typically involves addressing the underlying cancer with surgery, chemotherapy, or radiation therapy. Immunosuppressive therapies may also be used to manage the immune response that is causing the neurological symptoms. While treatment can help alleviate symptoms and improve quality of life, paraneoplastic syndromes are often difficult to cure completely.

I'm sorry for any confusion, but "Uveomeningoencephalitic Syndrome" is not a widely recognized or established medical term. It seems to be a combination of different terms from various medical conditions.

1. Uveitis refers to inflammation of the uvea, the middle layer of the eye between the retina and the white of the eye.
2. Meningoencephalitis refers to inflammation of both the meninges (the protective membranes covering the brain and spinal cord) and the brain itself (encephalitis).

If you're looking for information on a specific medical condition that you think might be related to these terms, I would recommend consulting a healthcare professional or searching for information on conditions like uveitis or meningoencephalitis.

Recurrence, in a medical context, refers to the return of symptoms or signs of a disease after a period of improvement or remission. It indicates that the condition has not been fully eradicated and may require further treatment. Recurrence is often used to describe situations where a disease such as cancer comes back after initial treatment, but it can also apply to other medical conditions. The likelihood of recurrence varies depending on the type of disease and individual patient factors.

Crush syndrome, also known as traumatic rhabdomyolysis, is a medical condition that occurs when a significant amount of muscle tissue is damaged or destroyed, releasing large amounts of intracellular contents into the circulation. This can happen due to prolonged compression of muscles, often seen in cases of entrapment in debris or heavy objects following natural disasters, accidents, or other traumatic events.

The crush syndrome is characterized by a triad of symptoms:

1. Muscle injury and breakdown (rhabdomyolysis) leading to the release of muscle contents such as potassium, myoglobin, creatine kinase, and uric acid into the bloodstream.
2. Electrolyte imbalances, particularly hyperkalemia (elevated potassium levels), which can cause cardiac arrhythmias and cardiac arrest if not promptly treated.
3. Acute kidney injury (AKI) due to myoglobinuria, where the released myoglobin from damaged muscle tissue clogs the renal tubules in the kidneys, impairing their function and potentially leading to acute renal failure.

Immediate medical intervention is crucial for managing crush syndrome, which includes aggressive fluid resuscitation, close monitoring of electrolyte levels, and supportive care for kidney function. In some cases, dialysis may be required to support the kidneys until they recover.

Congenital Rubella Syndrome (CRS) is a collection of severe birth defects that occur when a woman contracts rubella (German measles) during pregnancy, particularly in the first trimester. The virus can cause damage to the developing fetus's heart, brain, eyes, and ears, leading to a range of symptoms known as CRS. These may include:

1. Cardiac defects: Patent ductus arteriosus (PDA), pulmonary stenosis, and ventricular septal defects are common.
2. Cataracts or congenital glaucoma.
3. Deafness, which can be unilateral or bilateral.
4. Developmental delay and intellectual disability.
5. Microcephaly (small head size).
6. Intrauterine growth restriction (IUGR) leading to low birth weight.
7. Hepatosplenomegaly (enlarged liver and spleen).
8. Jaundice.
9. Thrombocytopenia (low platelet count).
10. Skin rash or pigmentary changes.

Prevention is crucial, as there is no cure for CRS once it has developed. The MMR (measles, mumps, and rubella) vaccine effectively prevents rubella infection and subsequent CRS.

The Predictive Value of Tests, specifically the Positive Predictive Value (PPV) and Negative Predictive Value (NPV), are measures used in diagnostic tests to determine the probability that a positive or negative test result is correct.

Positive Predictive Value (PPV) is the proportion of patients with a positive test result who actually have the disease. It is calculated as the number of true positives divided by the total number of positive results (true positives + false positives). A higher PPV indicates that a positive test result is more likely to be a true positive, and therefore the disease is more likely to be present.

Negative Predictive Value (NPV) is the proportion of patients with a negative test result who do not have the disease. It is calculated as the number of true negatives divided by the total number of negative results (true negatives + false negatives). A higher NPV indicates that a negative test result is more likely to be a true negative, and therefore the disease is less likely to be present.

The predictive value of tests depends on the prevalence of the disease in the population being tested, as well as the sensitivity and specificity of the test. A test with high sensitivity and specificity will generally have higher predictive values than a test with low sensitivity and specificity. However, even a highly sensitive and specific test can have low predictive values if the prevalence of the disease is low in the population being tested.

Opsoclonus-Myoclonus Syndrome (OMS) is a rare neurological disorder characterized by rapid, involuntary, and chaotic eye movements (opsoclonus) and brief, shock-like jerks of the muscles (myoclonus). These symptoms can affect various parts of the body, including the limbs, trunk, and face. OMS is often associated with a variety of underlying causes, such as viral infections, tumors, or autoimmune disorders. In some cases, no specific cause can be identified, and this is referred to as idiopathic OMS.

The symptoms of OMS can significantly impact an individual's daily functioning and quality of life. Treatment typically involves a combination of medications to manage the symptoms and address any underlying causes. The prognosis for individuals with OMS varies depending on the severity of the condition and the effectiveness of treatment. Some people may experience significant improvement in their symptoms, while others may have persistent neurological impairments.

Sick Building Syndrome (SBS) is not a universally accepted medical diagnosis, but it is a term used by the World Health Organization (WHO) to describe situations where building occupants experience acute health and comfort effects that seem to be linked to time spent in a building, without any specific illness or cause being identified.

The symptoms of SBS may include:

* Eye, nose, or throat irritation
* Headaches
* Dry cough
* Dry or itchy skin
* Dizziness and nausea
* Fatigue
* Difficulty concentrating
* Sensory irritability

These symptoms usually disappear after leaving the building. The causes of SBS are not well understood, but they are often attributed to inadequate ventilation, chemical contaminants from indoor or outdoor sources, biological contaminants such as mold or bacteria, and physical factors such as lighting, noise, or extremes of temperature or humidity.

It is important to note that the symptoms of SBS can also be caused by other factors, so it is essential to consult with a healthcare professional if you experience any of these symptoms. A thorough investigation of the building and its environment may also be necessary to identify potential causes and solutions.

Postpericardiotomy Syndrome (PPS) is a clinical entity that can occur after cardiac surgical procedures. It is characterized by the presence of pericardial effusion, pleural effusion, and/or inflammation of the serosal surfaces lining the heart and chest cavity (pericardium and pleura). The symptoms typically develop within 1-6 weeks after surgery and include fever, chest pain, and signs of fluid accumulation in the pericardial or pleural spaces.

The exact cause of PPS is not fully understood, but it is thought to be related to an immune response to the surgical trauma, leading to inflammation and increased production of cytokines and other mediators. The diagnosis of PPS is typically made based on clinical criteria, including the presence of fever, pleural or pericardial effusion, and evidence of inflammation. Treatment may include nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids, or colchicine to reduce inflammation and relieve symptoms. In severe cases, drainage of the effusions may be necessary.

Crigler-Najjar Syndrome is a rare inherited genetic disorder that affects the metabolism of bilirubin, a yellow pigment produced when hemoglobin breaks down. This condition is characterized by high levels of unconjugated bilirubin in the blood, which can lead to jaundice, kernicterus, and neurological damage if left untreated.

There are two types of Crigler-Najjar Syndrome: Type I and Type II.

Type I is the more severe form, and it is caused by a mutation in the UGT1A1 gene, which encodes for an enzyme responsible for conjugating bilirubin. People with this type of Crigler-Najjar Syndrome have little to no functional enzyme activity, leading to very high levels of unconjugated bilirubin in the blood. This form is usually diagnosed in infancy and requires regular phototherapy or a liver transplant to prevent neurological damage.

Type II is a milder form of the disorder, caused by a mutation that results in reduced enzyme activity but not complete loss of function. People with this type of Crigler-Najjar Syndrome usually have milder symptoms and may not require regular phototherapy or a liver transplant, although they may still be at risk for neurological damage if their bilirubin levels become too high.

Both types of Crigler-Najjar Syndrome are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

Chromosome aberrations refer to structural and numerical changes in the chromosomes that can occur spontaneously or as a result of exposure to mutagenic agents. These changes can affect the genetic material encoded in the chromosomes, leading to various consequences such as developmental abnormalities, cancer, or infertility.

Structural aberrations include deletions, duplications, inversions, translocations, and rings, which result from breaks and rearrangements of chromosome segments. Numerical aberrations involve changes in the number of chromosomes, such as aneuploidy (extra or missing chromosomes) or polyploidy (multiples of a complete set of chromosomes).

Chromosome aberrations can be detected and analyzed using various cytogenetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and comparative genomic hybridization (CGH). These methods allow for the identification and characterization of chromosomal changes at the molecular level, providing valuable information for genetic counseling, diagnosis, and research.

Hantavirus is an etiologic agent for several clinical syndromes, including hantavirus pulmonary syndrome (HPS) and hemorrhagic fever with renal syndrome (HFRS). It's a single-stranded RNA virus belonging to the family Bunyaviridae, genus Orthohantavirus.

These viruses are primarily transmitted to humans by inhalation of aerosolized excreta from infected rodents. The symptoms can range from flu-like illness to severe respiratory distress and renal failure, depending upon the specific hantavirus species. There are no known treatments for HFRS, but early recognition and supportive care can significantly improve outcomes. Ribavirin has been used in some cases of HPS with apparent benefit, although its general efficacy is not well-established

(References: CDC, NIH, WHO)

Aicardi syndrome is a rare genetic disorder that primarily affects girls and women. It is characterized by the absence or underdevelopment of a part of the brain called the corpus callosum, which connects the two hemispheres of the brain. This results in various neurological symptoms such as seizures, developmental delays, and intellectual disabilities.

Individuals with Aicardi syndrome may also have other distinctive features, including abnormalities of the eyes (such as retinal lacunae or colobomas), agenesis of the corpus callosum, and characteristic skin abnormalities called chorioretinal lacunae. The disorder is usually sporadic, meaning that it occurs randomly and is not inherited from parents.

The exact cause of Aicardi syndrome is unknown, but it is believed to be related to genetic mutations or deletions on the X chromosome. Because the disorder primarily affects girls and women, it is thought that the absence of a second X chromosome in males may lead to more severe symptoms or early lethality.

There is no cure for Aicardi syndrome, and treatment is focused on managing the symptoms and improving quality of life. This may include anti-seizure medications, physical therapy, occupational therapy, and special education services. The prognosis for individuals with Aicardi syndrome varies widely depending on the severity of their symptoms and the effectiveness of treatment.

A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:

1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.

2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.

3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.

4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.

5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.

After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.

Pancoast syndrome is a constellation of symptoms resulting from the invasion and compression of various neurological and vascular structures at the apex (top) of the lung, most commonly caused by a specific type of lung cancer known as Pancoast tumor or superior sulcus tumor. The syndrome is characterized by shoulder pain, Horner's syndrome (meiosis, ptosis, and anhidrosis), and weakness or atrophy of the hand muscles due to involvement of the lower brachial plexus.

Lateral Medullary Syndrome, also known as Wallenberg's syndrome, is a type of stroke that affects the lateral part (side) of the medulla oblongata, which is a structure at the lower end of the brainstem. This condition is typically caused by a blockage or narrowing of the posterior inferior cerebellar artery (PICA), leading to infarction (tissue death due to lack of blood supply) in this area.

The lateral medulla contains several important nerve tracts and nuclei that are responsible for various functions, including:

1. Pain and temperature sensation from the face and body
2. Facial movements and sensations
3. Eye movement control
4. Hearing
5. Vestibular function (balance)
6. Swallowing and cough reflexes
7. Cardiovascular regulation

As a result, individuals with Lateral Medullary Syndrome may experience various symptoms such as:
- Ipsilateral (same side) facial pain and temperature sensation loss
- Contralateral (opposite side) body pain and temperature sensation loss
- Vertigo, dizziness, or unsteady gait due to vestibular dysfunction
- Difficulty swallowing and hoarseness
- Horner's syndrome (drooping eyelid, small pupil, and decreased sweating on the affected side of the face)
- Nystagmus (involuntary eye movement)
- Hiccups
- Ipsilateral (same side) limb ataxia (lack of coordination)

The severity and combination of symptoms may vary depending on the extent and location of the infarction. Treatment typically involves managing underlying risk factors, such as hypertension or diabetes, and providing supportive care to address specific symptoms.

Ataxia is a medical term that refers to a group of disorders affecting coordination, balance, and speech. It is characterized by a lack of muscle control during voluntary movements, causing unsteady or awkward movements, and often accompanied by tremors. Ataxia can affect various parts of the body, such as the limbs, trunk, eyes, and speech muscles. The condition can be congenital or acquired, and it can result from damage to the cerebellum, spinal cord, or sensory nerves. There are several types of ataxia, including hereditary ataxias, degenerative ataxias, cerebellar ataxias, and acquired ataxias, each with its own specific causes, symptoms, and prognosis. Treatment for ataxia typically focuses on managing symptoms and improving quality of life, as there is no cure for most forms of the disorder.

Exons are the coding regions of DNA that remain in the mature, processed mRNA after the removal of non-coding intronic sequences during RNA splicing. These exons contain the information necessary to encode proteins, as they specify the sequence of amino acids within a polypeptide chain. The arrangement and order of exons can vary between different genes and even between different versions of the same gene (alternative splicing), allowing for the generation of multiple protein isoforms from a single gene. This complexity in exon structure and usage significantly contributes to the diversity and functionality of the proteome.

Blood glucose, also known as blood sugar, is the concentration of glucose in the blood. Glucose is a simple sugar that serves as the main source of energy for the body's cells. It is carried to each cell through the bloodstream and is absorbed into the cells with the help of insulin, a hormone produced by the pancreas.

The normal range for blood glucose levels in humans is typically between 70 and 130 milligrams per deciliter (mg/dL) when fasting, and less than 180 mg/dL after meals. Levels that are consistently higher than this may indicate diabetes or other metabolic disorders.

Blood glucose levels can be measured through a variety of methods, including fingerstick blood tests, continuous glucose monitoring systems, and laboratory tests. Regular monitoring of blood glucose levels is important for people with diabetes to help manage their condition and prevent complications.

Skin abnormalities refer to any changes in the skin that deviate from its normal structure, function, or color. These can manifest as various conditions such as lesions, growths, discolorations, or textural alterations. Examples include moles, freckles, birthmarks, rashes, hives, acne, eczema, psoriasis, rosacea, skin cancer, and many others. Some skin abnormalities may be harmless and require no treatment, while others might indicate an underlying medical condition that requires further evaluation and management.

Human chromosome pair 21 consists of two rod-shaped structures present in the nucleus of each cell in the human body. Each member of the pair is a single chromosome, and they are identical to each other. Chromosomes are made up of DNA, which contains genetic information that determines many of an individual's traits and characteristics.

Chromosome pair 21 is one of the 23 pairs of human autosomal chromosomes, meaning they are not sex chromosomes (X or Y). Chromosome pair 21 is the smallest of the human chromosomes, and it contains approximately 48 million base pairs of DNA. It contains around 200-300 genes that provide instructions for making proteins and regulating various cellular processes.

Down syndrome, a genetic disorder characterized by intellectual disability, developmental delays, distinct facial features, and sometimes heart defects, is caused by an extra copy of chromosome pair 21 or a part of it. This additional genetic material can lead to abnormalities in brain development and function, resulting in the characteristic symptoms of Down syndrome.

A germ-line mutation is a genetic change that occurs in the egg or sperm cells (gametes), and thus can be passed down from parents to their offspring. These mutations are present throughout the entire body of the offspring, as they are incorporated into the DNA of every cell during embryonic development.

Germ-line mutations differ from somatic mutations, which occur in other cells of the body that are not involved in reproduction. While somatic mutations can contribute to the development of cancer and other diseases within an individual, they are not passed down to future generations.

It's important to note that germ-line mutations can have significant implications for medical genetics and inherited diseases. For example, if a parent has a germ-line mutation in a gene associated with a particular disease, their offspring may have an increased risk of developing that disease as well.

An allele is a variant form of a gene that is located at a specific position on a specific chromosome. Alleles are alternative forms of the same gene that arise by mutation and are found at the same locus or position on homologous chromosomes.

Each person typically inherits two copies of each gene, one from each parent. If the two alleles are identical, a person is said to be homozygous for that trait. If the alleles are different, the person is heterozygous.

For example, the ABO blood group system has three alleles, A, B, and O, which determine a person's blood type. If a person inherits two A alleles, they will have type A blood; if they inherit one A and one B allele, they will have type AB blood; if they inherit two B alleles, they will have type B blood; and if they inherit two O alleles, they will have type O blood.

Alleles can also influence traits such as eye color, hair color, height, and other physical characteristics. Some alleles are dominant, meaning that only one copy of the allele is needed to express the trait, while others are recessive, meaning that two copies of the allele are needed to express the trait.

Cubital Tunnel Syndrome is a medical condition that affects the ulnar nerve, which runs down the arm and through a narrow tunnel inside the elbow, also known as the cubital tunnel. When this nerve becomes compressed or irritated in this area, it can lead to various symptoms such as numbness, tingling, and pain in the ring and little fingers, as well as weakness in the hand and forearm.

The condition is often caused by repetitive motion or prolonged pressure on the elbow, such as from leaning on the arm or bending the elbow for extended periods of time. In some cases, it may also be due to bone spurs, cysts, or other abnormalities that narrow the cubital tunnel and put pressure on the ulnar nerve.

Treatment for Cubital Tunnel Syndrome typically involves avoiding activities that aggravate the condition, wearing a splint or brace to keep the elbow straight during sleep, and taking anti-inflammatory medications to reduce swelling and pain. In more severe cases, surgery may be necessary to relieve pressure on the ulnar nerve and alleviate symptoms.

Munchausen syndrome by proxy (also known as factitious disorder imposed on another) is a mental health disorder in which a caregiver, typically a parent or guardian, exaggerates, fabricates, or induces illness or symptoms in another person, usually their child, to gain attention and sympathy for themselves. The caregiver may manipulate the child's medical records, alter test results, or even physically harm the child to produce symptoms. This behavior can result in serious physical harm or even death of the victim. It is considered a form of child abuse and requires immediate intervention by medical professionals and law enforcement authorities.

Hypergammaglobulinemia is a medical condition characterized by an elevated level of gamma globulins (a type of immunoglobulins or antibodies) in the blood. These proteins are part of the body's immune system and help to fight off infections. However, when their levels become too high, it can indicate an underlying medical disorder.

There are several types of hypergammaglobulinemia, including:

1. Primary hypergammaglobulinemia: This is a rare condition that is present at birth or develops during early childhood. It is caused by genetic mutations that lead to overproduction of immunoglobulins.
2. Secondary hypergammaglobulinemia: This type is more common and is caused by an underlying medical condition, such as chronic infections, autoimmune disorders, or certain types of cancer.

Symptoms of hypergammaglobulinemia can vary depending on the cause and severity of the condition. They may include recurrent infections, fatigue, swelling of the lymph nodes, and joint pain. Treatment typically involves addressing the underlying cause of the condition, if possible, as well as managing symptoms and preventing complications.

Meconium Aspiration Syndrome (MAS) is a medical condition that occurs in newborns when meconium, which is the first stool of an infant, is present in the amniotic fluid and is breathed into the lungs around the time of delivery. This can cause respiratory distress, pneumonia, and in severe cases, persistent pulmonary hypertension and death.

The meconium can be inhaled into the lungs before, during, or after birth, and it can block the airways, causing a lack of oxygen to the lungs and other organs. This can lead to several complications such as infection, inflammation, and damage to the lung tissue.

MAS is more likely to occur in babies who are born past their due date or those who experience fetal distress during labor and delivery. Treatment for MAS may include oxygen therapy, suctioning of the airways, antibiotics, and in severe cases, mechanical ventilation.

Birt-Hogg-Dubé syndrome is a rare genetic disorder characterized by the development of multiple benign hair follicle tumors called fibrofolliculomas, as well as an increased risk of developing certain types of kidney cancer and lung cysts or pneumothorax (collapsed lung). The syndrome is caused by mutations in the folliculin (FLCN) gene.

Individuals with Birt-Hogg-Dubé syndrome may also have skin abnormalities such as trichodiscomas and acrochordons (skin tags), and some may experience spontaneous pneumothorax (collapsed lung) due to the development of lung cysts.

The kidney cancer that is associated with Birt-Hogg-Dubé syndrome is typically a type called renal cell carcinoma, which can be aggressive and life-threatening if not detected and treated early. Regular monitoring and screening for kidney cancer and lung abnormalities are recommended for individuals with this syndrome.

Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS) syndrome is a rare inherited mitochondrial disorder that affects the body's energy production mechanisms. It is characterized by a combination of symptoms including recurrent headaches, vomiting, seizures, vision loss, hearing impairment, muscle weakness, and stroke-like episodes affecting primarily young adults.

The condition is caused by mutations in the mitochondrial DNA (mtDNA), most commonly the A3243G point mutation in the MT-TL1 gene. The symptoms of MELAS syndrome can vary widely among affected individuals, even within the same family, due to the complex inheritance pattern of mtDNA.

MELAS syndrome is typically diagnosed based on a combination of clinical features, laboratory tests, and genetic testing. Treatment is supportive and aimed at managing individual symptoms as they arise.

Jervell-Lange Nielsen Syndrome (JLNS) is a rare inherited disorder characterized by the combination of congenital deafness and prolongation of the QT interval on an electrocardiogram (ECG), which can lead to life-threatening cardiac arrhythmias. It is caused by mutations in the KCNQ1 or KCNE1 genes, which are responsible for the potassium ion channels in the heart that help maintain a regular heart rhythm.

There are two types of JLNS: type 1 and type 2. Type 1 is characterized by profound congenital deafness and severe, life-threatening cardiac arrhythmias, while type 2 has less severe hearing loss and fewer cardiac complications. The syndrome can be diagnosed through genetic testing and ECG monitoring. Treatment typically involves the use of beta blockers to regulate heart rhythm, as well as the implementation of measures to manage the risk of sudden death, such as the implantation of a pacemaker or defibrillator.

Acute Radiation Syndrome (ARS), also known as radiation sickness, is a set of symptoms that occur within 24 hours after exposure to high levels of ionizing radiation. The severity of the syndrome depends on the dose of radiation received and the duration of exposure. It can be caused by accidental exposure or intentional use in nuclear warfare or terrorist activities.

ARS is typically divided into three categories based on the symptoms and affected organs: hematopoietic, gastrointestinal, and neurovascular.

1. Hematopoietic ARS: This type of ARS affects the bone marrow and results in a decrease in white blood cells, red blood cells, and platelets. Symptoms include fatigue, weakness, fever, infection, and bleeding.
2. Gastrointestinal ARS: This type of ARS affects the gastrointestinal tract and results in nausea, vomiting, diarrhea, abdominal pain, and dehydration.
3. Neurovascular ARS: This is the most severe form of ARS and affects the central nervous system. Symptoms include confusion, disorientation, seizures, coma, and death.

Treatment for ARS includes supportive care such as fluid replacement, blood transfusions, antibiotics, and medications to manage symptoms. In some cases, bone marrow transplantation may be necessary. Prevention measures include limiting exposure to ionizing radiation and using appropriate protective equipment when working with radioactive materials.

Shaken Baby Syndrome (SBS), also known as Abusive Head Trauma, is a form of inflicted injury that occurs when a baby or young child is violently shaken. This can lead to severe brain damage, blindness, hearing loss, developmental delays, seizures, and even death. The shaking causes the baby's fragile brain to move back and forth inside the skull, resulting in bruised brain tissues, bleeding in the brain, and detachment of the retinas. It's important to note that even brief periods of shaking can result in severe consequences. SBS is a form of child abuse and should be reported immediately to authorities.

Neonatal Abstinence Syndrome (NAS) is a postnatal drug withdrawal syndrome that occurs in newborns who were exposed to opioids or other addictive substances while in the mother's womb. It happens when a pregnant woman uses drugs such as heroin, oxycodone, methadone, or buprenorphine. After birth, when the baby is no longer receiving the drug through the placenta, withdrawal symptoms can occur.

NAS symptoms may include:

* Tremors, seizures, or muscle stiffness
* Excessive crying or high-pitched crying
* Sleep disturbances, poor feeding, and poor growth
* Fever, diarrhea, vomiting, and sneezing
* Rapid breathing or breath-holding
* Increased sweating, yawning, or stuffiness

The severity of NAS can vary depending on the type and amount of drug used during pregnancy, the timing and length of exposure, and the newborn's individual characteristics. Treatment typically involves a slow and careful weaning from the drug using medication such as morphine or methadone, along with supportive care to manage symptoms and promote healthy development.

Pierre Robin Syndrome is a congenital condition characterized by a set of distinctive features including:

1. Micrognathia: This is the term for an abnormally small lower jaw (mandible). In Pierre Robin Syndrome, this feature is present at birth and can lead to breathing difficulties due to the tongue falling back and obstructing the airway.

2. Glossoptosis: This refers to the displacement of the tongue towards the back of the mouth. Because of the small jaw, the tongue has limited space and tends to fall back and block the airway, especially during sleep.

3. Cleft Palate: A cleft palate is a birth defect where there is an opening in the roof of the mouth (palate). This occurs because the two sides of the palate do not fuse together properly during fetal development.

The syndrome can vary in severity among individuals, and some may also have other associated conditions such as hearing problems, heart defects, or learning disabilities. The exact cause of Pierre Robin Syndrome is unknown, but it's often associated with genetic syndromes like Stickler syndrome and velocardiofacial syndrome. Treatment typically involves addressing the airway issues first, often through positioning, prone sleeping, or in severe cases, a surgical procedure to bring the jaw forward (distraction osteogenesis). The cleft palate is usually repaired with surgery within the first year of life.

"Family Health" is not a term that has a single, widely accepted medical definition. However, in the context of healthcare and public health, "family health" often refers to the physical, mental, and social well-being of all members of a family unit. It includes the assessment, promotion, and prevention of health conditions that affect individual family members as well as the family as a whole.

Family health may also encompass interventions and programs that aim to strengthen family relationships, communication, and functioning, as these factors can have a significant impact on overall health outcomes. Additionally, family health may involve addressing social determinants of health, such as poverty, housing, and access to healthcare, which can affect the health of families and communities.

Overall, family health is a holistic approach to healthcare that recognizes the importance of considering the needs and experiences of all family members in promoting and maintaining good health.

Infantile spasms, also known as West syndrome, is a rare but serious type of epilepsy that affects infants typically between 4-8 months of age. The spasms are characterized by sudden, brief, and frequent muscle jerks or contractions, often involving the neck, trunk, and arms. These spasms usually occur in clusters and may cause the infant to bend forward or stretch out. Infantile spasms can be a symptom of various underlying neurological conditions and are often associated with developmental delays and regression. Early recognition and treatment are crucial for improving outcomes.

I'm sorry for any confusion, but "Frasier Syndrome" is not a recognized medical condition or syndrome in the standard medical literature. It seems like it might be a term that is specific to a certain context or fictional work. In popular culture, "Frasier" is a television show about a character named Frasier Crane, and it's possible that "Frasier Syndrome" could refer to something within the realm of that fiction. However, without more specific information about where you encountered this term, I cannot provide an accurate definition.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth with subsequent normalization of head circumference, a prominent forehead (frontal bossing), a small jaw (micrognathia), body asymmetry, and feeding difficulties in early life. Some individuals may also have clinodactyly (curving of the fifth finger towards the fourth), wide-spaced fifth fingers, and downturned corners of the mouth.

The genetic basis for SRS is heterogeneous, but the most common genetic abnormality associated with this syndrome is hypomethylation of the H19/IGF2:IG-DMR (imprinting control region) on chromosome 11p15.5. This region regulates the expression of two neighboring genes, IGF2 and H19, which are imprinted and expressed in a parent-of-origin-specific manner. In SRS, the hypomethylation leads to decreased IGF2 expression and increased H19 expression, which is thought to contribute to the growth retardation observed in this syndrome.

Individuals with SRS may have developmental delays, learning disabilities, and behavioral problems, although their cognitive abilities can range from normal to mildly impaired. They are also at an increased risk of developing certain medical conditions, such as low blood sugar (hypoglycemia), heart defects, kidney abnormalities, and a higher risk of childhood cancer, particularly Wilms' tumor.

Diagnosis of SRS is typically based on clinical criteria, including growth parameters, physical features, and developmental history. Genetic testing for hypomethylation at the H19/IGF2:IG-DMR region can confirm the diagnosis in many cases. Management of SRS involves a multidisciplinary approach, with interventions focused on addressing specific symptoms and promoting optimal growth and development.

Mouth abnormalities, also known as oral or orofacial anomalies, refer to structural or functional differences or defects in the mouth and surrounding structures, including the lips, teeth, gums, palate, tongue, and salivary glands. These abnormalities can be present at birth (congenital) or acquired later in life due to injury, disease, or surgery. They can range from minor variations in size, shape, or position of oral structures to more significant anomalies that may affect speech, swallowing, chewing, breathing, and overall quality of life.

Examples of mouth abnormalities include cleft lip and palate, macroglossia (enlarged tongue), microglossia (small tongue), ankyloglossia (tongue-tie), high or narrow palate, bifid uvula (split uvula), dental malocclusion (misaligned teeth), supernumerary teeth (extra teeth), missing teeth, and various oral tumors or cysts. Some mouth abnormalities may require medical intervention, such as surgery, orthodontic treatment, or speech therapy, while others may not necessitate any treatment.

Craniofacial dysostosis is a term used to describe a group of rare genetic disorders that affect the development of the skull and face. These conditions are characterized by cranial and facial abnormalities, including a misshapen head, wide-set eyes, a beaked nose, and underdeveloped jaws.

The most common type of craniofacial dysostosis is Crouzon syndrome, which is caused by mutations in the FGFR2 gene. Other types include Apert syndrome (caused by mutations in the FGFR2 or FGFR3 gene), Pfeiffer syndrome (caused by mutations in the FGFR1 or FGFR2 gene), and Saethre-Chotzen syndrome (caused by mutations in the TWIST1 gene).

These conditions can vary in severity, but they often cause complications such as breathing difficulties, vision problems, hearing loss, and developmental delays. Treatment typically involves a team of specialists, including craniofacial surgeons, orthodontists, ophthalmologists, and audiologists, and may include surgery to correct the structural abnormalities and improve function.

X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.

Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.

Arthrogryposis is a medical term that describes a condition characterized by the presence of multiple joint contractures at birth. A contracture occurs when the range of motion in a joint is limited, making it difficult or impossible to move the joint through its full range of motion. In arthrogryposis, these contractures are present in two or more areas of the body.

The term "arthrogryposis" comes from two Greek words: "arthro," meaning joint, and "gyros," meaning curved or bent. Therefore, arthrogryposis literally means "curving of the joints."

There are many different types of arthrogryposis, each with its own specific set of symptoms and causes. However, in general, arthrogryposis is caused by decreased fetal movement during pregnancy, which can be due to a variety of factors such as genetic mutations, nervous system abnormalities, or environmental factors that restrict fetal movement.

Treatment for arthrogryposis typically involves a combination of physical therapy, bracing, and surgery to help improve joint mobility and function. The prognosis for individuals with arthrogryposis varies depending on the severity and type of contractures present, as well as the underlying cause of the condition.

Salivary glands are exocrine glands that produce saliva, which is secreted into the oral cavity to keep the mouth and throat moist, aid in digestion by initiating food breakdown, and help maintain dental health. There are three major pairs of salivary glands: the parotid glands located in the cheeks, the submandibular glands found beneath the jaw, and the sublingual glands situated under the tongue. Additionally, there are numerous minor salivary glands distributed throughout the oral cavity lining. These glands release their secretions through a system of ducts into the mouth.

Autoimmune diseases are a group of disorders in which the immune system, which normally protects the body from foreign invaders like bacteria and viruses, mistakenly attacks the body's own cells and tissues. This results in inflammation and damage to various organs and tissues in the body.

In autoimmune diseases, the body produces autoantibodies that target its own proteins or cell receptors, leading to their destruction or malfunction. The exact cause of autoimmune diseases is not fully understood, but it is believed that a combination of genetic and environmental factors contribute to their development.

There are over 80 different types of autoimmune diseases, including rheumatoid arthritis, lupus, multiple sclerosis, type 1 diabetes, Hashimoto's thyroiditis, Graves' disease, psoriasis, and inflammatory bowel disease. Symptoms can vary widely depending on the specific autoimmune disease and the organs or tissues affected. Treatment typically involves managing symptoms and suppressing the immune system to prevent further damage.

GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome Poikiloderma of Rothmund-Thomson at NIH's Office of Rare Diseases ( ... Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated ... Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak ... ISBN 978-0-7216-2921-6. Larizza, L.; Roversi, G.; Volpi, L. (Jan 2010). "Rothmund-Thomson syndrome". Orphanet Journal of Rare ...
... oculocerebrocutaneous syndrome; Rothmund-Thomson syndrome; and MLS (microphthalmia with linear skin defects) syndrome caused by ... The differential diagnosis of Setleis syndrome includes X-linked focal dermal hypoplasia, or Goltz syndrome; a syndrome of ... Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and ... Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). ...
Rothmund-Thomson syndrome. Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare disorder, generally attributed to ... Popadić S, Nikolić M, Gajić-Veljić M, Bonaci-Nikolić B (2006). "Rothmund-Thomson syndrome. The first case with plantar ... Gulliane-Barre syndrome is associated with peripheral neuropathies, and it has been found that anti-ganglioside autoantibodies ... Mauro A, Orsi L, Mortara P, Costa P, Schiffer D (1991). "Cerebellar syndrome in adult celiac disease with vitamin E deficiency ...
This disorder was to become known as the Rothmund-Thomson Syndrome; named in conjunction with British physician Matthew Sydney ... He was the son of noted surgeon Franz Christoph von Rothmund (1801-1891). In 1868 Rothmund was the first physician to describe ... a Japanese man who studied under Rothmund, after his mentor. Works by or about August von Rothmund at Internet Archive v t e ( ... August von Rothmund (August 1, 1830 - October 27, 1906) was a German ophthalmologist from Volkach, Lower Franconia. In 1853 he ...
Bloom syndrome and Rothmund-Thomson syndrome. In addition to human inherited syndromes, experimental mouse models with genetic ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... and Cockayne syndrome (mean lifespan 13 years). Werner syndrome is due to an inherited defect in an enzyme (a helicase and ... Werner syndrome (WS), a premature aging condition in humans, is caused by a genetic defect in a RecQ helicase that is employed ...
WRN gene in Werner syndrome (WS), BLM gene in Bloom syndrome (BS), and RECQL4 in Rothmund-Thomson syndrome. These syndromes are ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... In humans, individuals with Rothmund-Thomson syndrome, and carrying the RECQL4 germline mutation, have several clinical ... "Senescence induced by RECQL4 dysfunction contributes to Rothmund-Thomson syndrome features in mice". Cell Death Dis. 5 (5): ...
Rothmund-Thomson syndrome, Werner syndrome and Xeroderma pigmentosum. Although cancer syndromes exhibit an increased risk of ... A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, ... Lynch syndrome), Howel-Evans syndrome of esophageal cancer with tylosis, juvenile polyposis syndrome, Li-Fraumeni syndrome, ... Birt-Hogg-Dubé syndrome, Carney syndrome, familial chordoma, Cowden syndrome, dysplastic nevus syndrome with familial melanoma ...
In addition to the Rothmund-Thomson syndrome, RECQL4 mutations are also associated with RAPADILINO and Baller-Gerold syndromes ... In the Rothmund-Thomson syndrome, the association of deficient RECQL4-mediated DNA repair and premature aging is consistent ... There are two types of Rothmund Thomson syndrome and it is Type 2 that occurs in patients carrying deleterious mutations in ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ...
Hutchinson-Gilford progeria syndrome) Rothmund-Thomson syndrome Trichothiodystrophy Werner syndrome Xeroderma pigmentosum Some ... Lu L, Jin W, Wang LL (2017). "Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders". Ageing Res. Rev. 33: 30 ... Rothmund-Thomson syndrome and xeroderma pigmentosum display symptoms dominated by vulnerability to cancer, whereas progeria and ... "Two primary osteosarcomas in a patient with Rothmund-Thomson syndrome". Clin. Orthop. Relat. Res. 378 (378): 213-23. doi: ...
"MIM ID #268400 ROTHMUND-THOMSON SYNDROME; RTS". NCBI/OMIM. "MIM ID *134450 FACTOR VII REGULATOR; F7R". NCBI/OMIM. "MIM ID # ... Mosaic trisomy 8 has been reported in rare cases of Rothmund-Thomson syndrome, a genetic disorder associated with the DNA ... "MIM ID #179613 RECOMBINANT CHROMOSOME 8 SYNDROME". NCBI/OMIM. U.S. National Library of Medicine: Warkany Syndrome 2 (Articles ... If the photograph shows 3 copies of chromosome 8 instead of 2, then the individual has trisomy 8. Warkany syndrome 1 Diseases ...
This is also associated with Rothmund-Thomson syndrome and Baller-Gerold syndrome. Most people with RAPADILINO syndrome have ... Yin J, Kwon YT, Varshavsky A, Wang W (October 2004). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, ... Rare syndromes, Syndromes affecting bones, DNA replication and repair-deficiency disorders, Syndromes affecting stature, All ... Patients with RAPADILINO syndrome are more likely to develop osteosarcoma or lymphoma. In those with RAPADILINO syndrome, ...
Rothmund-Thomson syndrome Epidermolysis bullosa List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, ... Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein ... Kindler syndrome can affect various mucous tissues such as the mouth and eyes, which can lead to other health problems. ... Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare congenital disease of the ...
"OMIM Entry - # 216400 - COCKAYNE SYNDROME A; CSA". omim.org. Retrieved 2020-04-11. "Rothmund-Thomson syndrome". Genetics Home ... Rothmund-Thomson syndrome is a rare autosomal recessive disorder that affects the skin. It is characterized by the sparse hair ... Progeroid syndromes are genetic diseases that are linked to premature aging. Progeroid syndromes are characterized by having ... Werner syndrome, also known as "adult progeria", is another single-gene genetic disease. it is caused by a mutation in the wrn ...
Rothmund-Thomson syndrome, Kindler syndrome, dyskeratosis congenita, and chronic radiodermatitis. Rare causes include arsenic ... Among them, xeroderma pigmentosum and Rothmund-Thomson syndrome (poikiloderma congenita) are thought to be the most prominent. ... PVA fits within this updated view of parapsoriasis as a syndrome often associated with large plaque parapsoriasis and, or ... PVA is believed to be a syndrome closely associated with large-plaque parapsoriasis and its cohort retiform parapsoriasis; ...
With his predecessor August von Rothmund he gives his name to the skin condition, Rothmund-Thomson syndrome. He was ... Encyclopedia of Human Genetics and Disease, E B Kelly The Men Behind the Syndrome, P & G Beighton Biographical Index of Former ... The Men Behind the Syndrome, P & G Beighton The Medical Register 1969 v t e (Articles with short description, Short description ... Prof Matthew Sydney Thomson FRSE FRCPE (1894-1969) was a 20th-century British dermatologist. ...
The symptoms of Baller-Gerold syndrome overlap with features of a few other genetics disorders: Rothmund-Thomson syndrome and ... Baller-Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of ... Rare genetic syndromes, Syndromes affecting bones, Autosomal recessive disorders, Diseases named for discoverer). ... The name of the syndrome comes from the researchers Baller and Gerold who discovered the first three cases. The most common and ...
Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ... Johanson-Blizzard syndrome)" (PDF). Nat. Genet. 37 (12): 1345-50. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042. Matta- ...
Yin J, Kwon YT, Varshavsky A, Wang W (2005). "RECQL4, mutated in the Rothmund-Thomson and RAPADILINO syndromes, interacts with ... Mutations in this gene have been associated with Johanson-Blizzard syndrome. GRCh38: Ensembl release 89: ENSG00000159459 - ... Johanson-Blizzard syndrome)" (PDF). Nat. Genet. 37 (12): 1345-50. doi:10.1038/ng1681. PMID 16311597. S2CID 23050042. Sasaki T, ...
... are associated with the clinical entities Werner syndrome and Rothmund-Thomson syndrome, respectively. More broadly, Bloom ... Progeroid syndromes, Syndromes with tumors, Syndromes affecting stature, Diseases named for discoverer). ... Bloom syndrome has also appeared in the older literature as Bloom-Torre-Machacek syndrome. The most prominent feature of Bloom ... German J, Ciocci S, Ye TZ, Sanz MM, Ellis NA (2007). "Syndrome-causing mutations at BLM in persons in the Bloom's Syndrome ...
... father of August von Rothmund Toni Rothmund (1877-1956), German writer and journalist Rothmund-Thomson syndrome (RTS), an ... August von Rothmund (1830-1906), German ophthalmologist; son of Franz Christoph von Rothmund Franz Christoph von Rothmund (1801 ... Rothmund is a German surname, derived from the Germanic male given name Hrodmund, from hrod meaning "fame" (found in names such ... abnormal condition of the skin This page lists people with the surname Rothmund. If an internal link intending to refer to a ...
Li-Fraumeni syndrome (germline TP53 mutation) is a predisposing factor for osteosarcoma development. Rothmund-Thomson syndrome ...
Nbs1 Nijmegen breakage syndrome, RecQL4 Rothmund-Thomson syndrome, c-Myc oncogene and FANC proteins (Fanconi anemia). Xenopus ... Long-QT syndrome) and Megalencephalic leukoencephalopathy. Gene editing by the CRISPR/CAS system has recently been demonstrated ... "A recombinant N-terminal domain fully restores deactivation gating in N-truncated and long QT syndrome mutant hERG potassium ...
Some segmental progeroid syndromes, such as Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndromes (RTS) and ... Werner syndrome (WS) Bloom syndrome (BS) Rothmund-Thomson syndrome (RTS) Cockayne syndrome (CS) Xeroderma pigmentosum (XP) ... Examples of PS include Werner syndrome (WS), Bloom syndrome (BS), Rothmund-Thomson syndrome (RTS), Cockayne syndrome (CS), ... RECQL3/BLM and RECQL4 lead to Werner syndrome (WS), Bloom syndrome (BS), and Rothmund-Thomson syndrome (RTS), respectively. On ...
For example, each of the cancer-related diseases Bloom syndrome, Werner syndrome and Rothmund-Thomson syndrome are caused by ... Down's syndrome, which is caused by an extra copy of chromosome 21, is one of many abnormalities that result from such a ... In the cells of Bloom's syndrome patients, who lack a working copy of the BLM protein, there is an elevated rate of homologous ...
Hutchinson-Gilford progeria syndrome Rothmund-Thomson syndrome Werner syndrome Bloom syndrome Cockayne syndrome Xeroderma ... Seckel syndrome Ataxia telangiectasia Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Néstor-Guillermo progeria syndrome ... Progeroid syndromes are all examples of aging diseases where cell senescence appears to be implicated. ... Carrero D, Soria-Valles C, López-Otín C (July 2016). "Hallmarks of progeroid syndromes: lessons from mice and reprogrammed ...
Rothmund-Thomson syndrome MeSH C17.800.827.820 - Sjögren-Larsson syndrome MeSH C17.800.827.970 - xeroderma pigmentosum MeSH ... Rothmund-Thomson syndrome MeSH C17.800.804.812 - sclerema neonatorum MeSH C17.800.804.936 - xeroderma pigmentosum MeSH C17.800. ... Tietze syndrome MeSH C17.300.200.310 - Ehlers-Danlos syndrome MeSH C17.300.200.425 - keloid MeSH C17.300.200.425.125 - acne ... Felty's syndrome MeSH C17.300.775.099.683 - rheumatoid nodule MeSH C17.300.775.099.774 - Sjögren syndrome MeSH C17.300.775.099. ...
Rothmund-Thomson syndrome and microphthalmia with linear skin defects (also known as MLS) syndrome because they are all caused ... Goltz syndrome is a very rare diagnosis. To date, there are fewer than 25 cases of Goltz syndrome in the United States. ... The differential diagnosis of focal dermal hypoplasia (Goltz) syndrome includes autosomal recessive Setleis syndrome due to ... Besides its formal name, it is most commonly referred to as Goltz-Gorlin syndrome, after Robert Goltz and Robert Gorlin. Goltz ...
... syndrome Rothmund-Thomson syndrome Rotor syndrome Roussy-Lévy syndrome Rubinstein-Taybi syndrome Rud syndrome Rudiger syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
SRPX2 Rothmund-Thomson syndrome; 268400; RECQL4 Roussy-Lévy syndrome; 180800; MPZ Roussy-Lévy syndrome; 180800; PMP22 ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
Li-Fraumeni syndrome MeSH C18.452.284.600 - Nijmegen breakage syndrome MeSH C18.452.284.760 - Rothmund-Thomson syndrome MeSH ... MELAS syndrome MeSH C18.452.100.100.540 - Menkes kinky hair syndrome MeSH C18.452.100.100.545 - MERRF syndrome MeSH C18.452. ... MELAS syndrome MeSH C18.452.648.151.450 - menkes kinky hair syndrome MeSH C18.452.648.151.505 - MERRF syndrome MeSH C18.452. ... Prader-Willi syndrome MeSH C18.654.940.520 - hiv wasting syndrome The list continues at List of MeSH codes (C19). (Wikipedia ...
GeneReviews/NCBI/NIH/UW entry on Rothmund-Thomson Syndrome Poikiloderma of Rothmund-Thomson at NIHs Office of Rare Diseases ( ... Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive skin condition. There have been several reported cases associated ... Raza N, Malik QU, Hussain Z (2007). "Rothmund-Thomson syndrome: more than just a cosmetic concern". J Coll Physicians Surg Pak ... ISBN 978-0-7216-2921-6. Larizza, L.; Roversi, G.; Volpi, L. (Jan 2010). "Rothmund-Thomson syndrome". Orphanet Journal of Rare ...
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the ... encoded search term (Rothmund-Thomson Syndrome) and Rothmund-Thomson Syndrome What to Read Next on Medscape ... Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. Ageing Res Rev. 2017 Jan. 33:30-35. [QxMD MEDLINE Link ... Rothmund-Thomson Syndrome. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. GeneReviews. August 11 ...
... Int J Dermatol. 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. ...
RAPADILINO syndrome ... of other disorders, namely Baller-Gerold syndrome and Rothmund-Thomson syndrome. These syndromes are ... Rothmund-Thomson syndrome ... National Organization for Rare Disorders (NORD) ClinicalTrials.gov ROTHMUND-THOMSON SYNDROME, ... Rothmund-Thomson syndrome, and RAPADILINO syndrome are separate disorders or part ... ... and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003 May 7;95( ... damage: ...
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the ... encoded search term (Rothmund-Thomson Syndrome) and Rothmund-Thomson Syndrome What to Read Next on Medscape ... Aging in Rothmund-Thomson syndrome and related RECQL4 genetic disorders. Ageing Res Rev. 2017 Jan. 33:30-35. [QxMD MEDLINE Link ... Rothmund-Thomson Syndrome. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A. GeneReviews. August 11 ...
An autosomal recessive syndrome occurring principally in females, characterized by the presence of ... ... ROTHMUND THOMSON SYNDROME \ɹˈɒθmʌnd tˈɒmsən sˈɪndɹə͡ʊm], \ɹˈɒθmʌnd tˈɒmsən sˈɪndɹə‍ʊm], \ɹ_ˈɒ_θ_m_ʌ_n_d t_ˈɒ_m_s_ə_n s_ˈɪ_n_d_ɹ ... An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, ...
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the ... encoded search term (Rothmund-Thomson Syndrome) and Rothmund-Thomson Syndrome What to Read Next on Medscape ... Whether Rothmund-Thomson syndrome (poikiloderma congenitale) has a predilection for one sex over the other is unclear. An equal ... Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999 May. 22(1):82-4. [QxMD MEDLINE Link] ...
Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the ... encoded search term (Rothmund-Thomson Syndrome) and Rothmund-Thomson Syndrome What to Read Next on Medscape ... Whether Rothmund-Thomson syndrome (poikiloderma congenitale) has a predilection for one sex over the other is unclear. An equal ... Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. Nat Genet. 1999 May. 22(1):82-4. [QxMD MEDLINE Link] ...
Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ...
268400 ROTHMUND-THOMSON SYNDROME, TYPE 2; RTS2. 603780 RECQ PROTEIN-LIKE 4; RECQL4. ...
Rothmund-Thomson syndrome: MedlinePlus Genetics (National Library of Medicine) * Scalp-ear-nipple syndrome: MedlinePlus ... Bart-Pumphrey syndrome: MedlinePlus Genetics (National Library of Medicine) * Birt-Hogg-Dubé syndrome: MedlinePlus Genetics ( ... Acral peeling skin syndrome: MedlinePlus Genetics (National Library of Medicine) * Adams-Oliver syndrome: MedlinePlus Genetics ... UV-sensitive syndrome: MedlinePlus Genetics (National Library of Medicine) * Vohwinkel syndrome: MedlinePlus Genetics (National ...
Granulomas have hitherto not been described in Rothmund-Thomson syndrome. With this report we aim to stress the importance of ... of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome ... screening for immune deficiency in patients with Rothmund-Thomson syndrome. ... Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small ...
Rothmund-Thomson syndrome. IDs. Rothmund-Thomson syndrome DOID:2732. ICD10CM:Q82.8. MESH:D011038. NCI:C3335. OMIM:268400. UMLS_ ...
People with Rothmund-Thomson syndrome. This group of people is more likely to develop osteosarcoma. Rothmund-Thomson syndrome ... Children with Werner syndrome. These children have a higher risk of sarcoma, thyroid cancer, and melanoma. Werner syndrome is a ... Children with Li-Fraumeni syndrome. A child with Li-Fraumeni syndrome has a higher risk of sarcoma, including osteosarcoma, as ... Li-Fraumeni syndrome is a rare disorder of the p53 gene. That gene is responsible for getting rid of abnormal cells. ...
Rothmund-Thomson syndrome. United Vilnius and Riga Dermatovenereology Students Groups Meeting. Rare diseases. 2020 m. ... Sezary syndrome. United Vilnius and Riga Dermatovenereology Students Groups Meeting. Immune Deficiency and Dermatological ...
BCHM005 - Rothmund-Thomson Syndrome Helicase and Its DNA Binding Preferences. Barbora Cechova, 19, Gymnazium Matyase Lercha, ... ENBM033 - HeadSentry: An Innovative Real Time System for Preventing Second Impact Syndrome (SIS) from an Overlooked Concussion ...
Rothmund-Thomson syndrome. *Werner syndrome. Signs and symptoms:. *bone or joint pain ... Noonan syndrome;. *children born with high birth weights or larger than expected when born have increased risk of embryonal ... having AIDS (Acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time. ...
Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically ... An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. (1 November, 1996) Free A C Nicholls, J ... An autosomal dominant syndrome of acromegaloid facial appearance and generalised hypertrichosis terminalis. (1 November, 1996) ... Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (1 November, 1996) ...
Rothmund-Thomson Syndrome Foundation: A resource that provides education about Rothmund-Thomson syndrome and related disorders ... Other syndromes (eg, Down Down Syndrome (Trisomy 21) Down syndrome is an abnormality of chromosome 21 that can cause ... Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) is a recessively inherited syndrome of aging causing death by ... Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. Both are caused by gene mutations leading ...
Rothmund-Thomson Syndrome (RTS) approved 268400. Licence Committee minutes- PGD Saethre-Chotzen Syndrome (SCS) approved 101400 ...
Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Werner Syndrome,Fanconi Anemia, Complementation Group A,Bloom Syndrome ... Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Inherited Cancer-Predisposing Syndrome,Ovarian Cancer,Hereditary ... Rothmund-Thomson Syndrome, Type 2,Baller-Gerold Syndrome,Familial Colorectal Cancer,Inherited Cancer-Predisposing Syndrome, ... Tumor Predisposition Syndrome,Cutaneous Telangiectasia And Cancer Syndrome, Familial,Bloom Syndrome,Rapadilino Syndrome ...
Cowden Syndrome,Plasma Cell Neoplasm,Rothmund-Thomson Syndrome, Type 2,Cervical Adenoma Malignum,Breast Juvenile Papillomatosis ... Seckel Syndrome,Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked,Lig4 Syndrome,Autosomal Recessive Cerebellar Ataxia, ... Lynch Syndrome,Chromosome 13q14 Deletion Syndrome,Lymphoma, Non-Hodgkin, Familial,Renal Cell Carcinoma, Papillary, 1,Esophageal ... Werner Syndrome,Xeroderma Pigmentosum, Variant Type,Fanconi Anemia, Complementation Group A,Omenn Syndrome,Hutchinson-Gilford ...
The differential diagnosis of Bloom syndrome includes Fanconi anemia, Silver-Russell syndrome, Rothmund-Thomson syndrome, ... Bloom syndrome. Disease definition Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a ... Bloom syndrome is inherited as an autosomal recessive trait. The BLM gene codes for a RecQ helicase that forms a complex with ... Bloom syndrome (BSyn) overall prevalence is unknown, but in the Ashkenazi Jewish population it is estimated at approximately 1 ...
... the helicase responsible for Rothmund-Thomson syndrome) recapitulate Rothmund-Thomson syndrome phenotypes including skin ... Recent work on the mouse model for Rothmund-Thomson syndrome strongly supports this latter view. Knockout mice homozygous null ... Defective sister chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of Type II Rothmund-Thomson syndrome ... Defective sister chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of Type II Rothmund-Thomson syndrome ...
Rothmund-Thomson Syndrome Apr 16, 2023. Hematologic Malignancies Apr 17, 2023. Skeletal Dysplasias Apr 16, 2023. ...
Rothmund-Thomson Syndrome. Clinical Characteristics. Ocular Features: Patients have been reported with juvenile and infantile ... Variable presentation of Rothmund-Thomson syndrome. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Variable presentation of ... Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev ... Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22;102(1):11-7. ...
Rothmund-Thomson Syndrome. Clinical Characteristics. Ocular Features: Patients have been reported with juvenile and infantile ... Variable presentation of Rothmund-Thomson syndrome. Pujol LA, Erickson RP, Heidenreich RA, Cunniff C. Variable presentation of ... Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev ... Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet. 2001 Jul 22;102(1):11-7. ...
Osteosarcoma in patients with Rothmund-Thomson syndrome. Pediatr Hematol Oncol. 2015;32(1):32-40. ...
Rothmund-Thomson Syndrome. C17 - Skin and Connective Tissue Diseases. Decubitus Ulcer. Pressure Ulcer. ...
Rothmund-Thomson Syndrome. C17 - Skin and Connective Tissue Diseases. Decubitus Ulcer. Pressure Ulcer. ...
  • Cockayne syndrome is an autosomal recessive disorder caused by mutation in the ERCC8 gene, which is important in DNA excision repair. (msdmanuals.com)
  • We are also interested in other premature aging disorders such as Cockayne syndrome . (ku.dk)
  • Lack of the Cockayne syndrome protein leads to defects in DNA repair and to severe neurodegeneration. (ku.dk)
  • A hereditary basis, mutations in the DNA helicase RECQL4 gene, causing problems during initiation of DNA replication has been implicated in the syndrome. (wikipedia.org)
  • Rothmund-Thomson syndrome, or poikiloderma congenitale, is a rare autosomal recessive disorder attributed to mutations of the RECQL4 helicase gene on 8q24. (medscape.com)
  • Rothmund-Thomson syndrome (poikiloderma congenitale) has been attributed to mutations of the RECQL4 gene on 8q24, which encodes a RecQ DNA helicase. (medscape.com)
  • Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome. (medscape.com)
  • Larizza L, Magnani I, Roversi G. Rothmund-Thomson syndrome and RECQL4 defect: splitting and lumping. (medscape.com)
  • Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. (medscape.com)
  • Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. (medscape.com)
  • RECQL4-deficient cells are hypersensitive to oxidative stress/damage: Insights for osteosarcoma prevalence and heterogeneity in Rothmund-Thomson syndrome. (medscape.com)
  • The Rothmund-Thomson gene product RECQL4 localizes to the nucleolus in response to oxidative stress. (medscape.com)
  • p300-mediated acetylation of the Rothmund-Thomson-syndrome gene product RECQL4 regulates its subcellular localization. (medscape.com)
  • The RECQL4 protein, deficient in Rothmund-Thomson syndrome is active on telomeric D-loops containing DNA metabolism blocking lesions. (medscape.com)
  • The differential diagnosis of Bloom syndrome includes Fanconi anemia, Silver-Russell syndrome, Rothmund-Thomson syndrome, ataxia-telangiectasia, and Nijmegen breakage syndrome. (orpha.net)
  • Mutation in human genes involved in homologous recombination results in genome instability and diseases including a large fraction of inherited breast and ovarian cancers, Nijmegen breakage syndrome, ataxia telangiectasia, Bloom syndrome, Fanconi anemia, Rothmund-Thomson syndrome and others. (bcm.edu)
  • Approximately 300 cases of Rothmund-Thomson syndrome (poikiloderma congenitale) have been reported in the scientific literature worldwide. (medscape.com)
  • Whether Rothmund-Thomson syndrome (poikiloderma congenitale) has a predilection for one sex over the other is unclear. (medscape.com)
  • More than 90% of patients with Rothmund-Thomson syndrome (poikiloderma congenitale) develop the initial skin manifestations during the first year of life, usually from age 3-6 months. (medscape.com)
  • Rothmund-Thomson syndrome (RTS)(OMIM 268400) is a rare autosomal recessive genodermatosis characterized by poikiloderma, small stature, skeletal and dental abnormalities, cataract and an increased risk of cancer. (biomedcentral.com)
  • Rothmund-Thomson syndrome (RTS) is a rare, heterogeneous autosomal recessive genodermatosis, with poikiloderma as its hallmark. (bvsalud.org)
  • Rothmund-Thomson syndrome (RTS) is an extremely rare genetic condition exhibiting some dermatological, craniofacial, ophthalmological, and central nervous system abnormalities. (omu.edu.tr)
  • The syndrome was originally described in 1868 by the German ophthalmologist Rothmund in patients with rapidly progressive juvenile cataract associated with skin abnormalities [ 1 ]. (biomedcentral.com)
  • Rothmund-Thomson syndrome: two case reports show heterogeneous cutaneous abnormalities, an association with genetically programmed ageing changes, and increased chromosomal radiosensitivity. (bmj.com)
  • Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome. (bmj.com)
  • Most of these diseases, called progeroid syndromes, share physiological symptoms characterized by the appearance of accelerated aging, such as skin disorders, loss of hair, skeletal and dental abnormalities and cardiovascular complications. (innovitaresearch.com)
  • Infórmase sobre osteosarcoma en la infancia y la adolescencia en español. (cancer.net)
  • People with other rare inherited conditions, including Bloom syndrome , Werner syndrome , and Diamond-Blackfan Anemia , have also been linked to an increased risk of osteosarcoma. (crortho.com)
  • Rothmund-Thomson syndrome ((RTS) OMIM 268400) is a rare autosomal recessively inherited genodermatosis with a heterogeneous clinical presentation. (biomedcentral.com)
  • Premature aging is a feature of other rare progeroid syndromes. (msdmanuals.com)
  • FSU postdoctoral researcher Juan Carlos Rivera-Mulia used an advanced approach to disease marker discovery developed at Florida State to conduct breakthrough research on premature aging diseases called "progeroid syndromes. (innovitaresearch.com)
  • In a pioneering study published this week in the journal Proceedings of the National Academy of Sciences, FSU researchers outlined the first discovery of a molecular commonality between two progeroid syndromes, Hutchinson-Gilford progeria syndrome and Rothmund-Thomson syndrome, and introduced a method for disease recognition that could yield additional breakthroughs in the future. (innovitaresearch.com)
  • Progeroid syndromes are rare - one in 4 million newborns worldwide are diagnosed with Hutchinson-Gilford and there are 400 documented cases of Rothmund-Thomson - but there are no existing treatments or workable therapies for these diseases. (innovitaresearch.com)
  • Not only was this the first time anyone had identified a molecular commonality between two progeroid syndromes - a monumental breakthrough in the study of these conditions - but it was also a resounding endorsement of the replication timing method's utility as an epigenetic tool for detecting markers of disease. (innovitaresearch.com)
  • Drosophila homologue of the Rothmund-Thomson syndrome gene: essential function in DNA replication during development. (medscape.com)
  • An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. (bmj.com)
  • Mutations in the same gene cause Baller-Gerold syndrome ( 218600 ) suggesting that the two disorders are allelic but the phenotypes are considerably different. (arizona.edu)
  • The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix . (en-academic.com)
  • The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase. (lookformedical.com)
  • Myhre syndrome is a genetic disorder caused by gain of function mutations in the SMAD Family Member 4 (SMAD4) gene, resulting in progressive, proliferative skin and organ fibrosis. (biomedcentral.com)
  • C (p.Ile500Thr) in the SMAD4 gene, suggesting a diagnosis of Myhre syndrome. (biomedcentral.com)
  • One early abnormality, an alteration in the gene TP63, was found to appear in both Hutchinson-Gilford and Rothmund-Thomson syndromes. (innovitaresearch.com)
  • Kindler syndrome (KS) is a rare type of inherited epidermolysis bullosa (EB), which is a group of mechanobullous disorders characterized by defects in the basement membrane zone (BMZ). (logicalimages.com)
  • In an important model of premature aging, Werner's Syndrome, the genetic problem seems to be lack of a helicase protein that can unwind G-quadruplexes. (anti-agingfirewalls.com)
  • In the first half of the 20th century the English dermatologist Thomson mentioned two patients with cutaneous lesions that were similar to those reported by Rothmund, but without any ocular lesions [ 2 ]. (biomedcentral.com)
  • Cutaneous and skeletal manifestations of the 13 year old patient with Myhre syndrome we describe in this report. (biomedcentral.com)
  • Werner syndrome is premature aging after puberty with hair thinning and development of conditions of old age (eg, cataracts, diabetes, osteoporosis, atherosclerosis). (msdmanuals.com)
  • Bloom syndrome is a rare disorder associated with pre- and postnatal growth deficiency, a telangiectatic erythematous rash of the face and other sun-exposed areas, insulin resistance and predisposition to early onset and recurrent cancer of multiple organ systems. (orpha.net)
  • Pasyanthi B, Mendonca T, Sachdeva V, Kekunnaya R. Ophthalmologic manifestations of Hallermann-Streiff-Francois syndrome: report of four cases . (arizona.edu)
  • Although a clear genotype-phenotype correlation cannot be definitively established at this moment, we speculate that the residual activity of the splicing variant allele could be responsible for the distinct manifestations of DNA2-related syndromes. (bvsalud.org)
  • citation needed] The condition was originally described by August von Rothmund (1830-1906) in 1868. (wikipedia.org)
  • Each individual progeroid syndrome is caused by its own specific genetic mutation, but researchers have struggled to describe what these different diseases have in common. (innovitaresearch.com)
  • Rothmund-Thomson syndrome is a rare genetic disorder that manifests in early infancy. (skincarehealthcenter.com)
  • Myhre Syndrome is a rare genetic mimic of scleroderma that should be considered alongside several other monogenic diseases presenting with pathological fibrosis from early in life. (biomedcentral.com)
  • Children with Rothmund-Thomson syndrome tend to be short and have skin and skeletal problems. (crortho.com)
  • Bloom syndrome (BSyn) overall prevalence is unknown, but in the Ashkenazi Jewish population it is estimated at approximately 1/ 48,000 births. (orpha.net)
  • Bloom syndrome is inherited as an autosomal recessive trait. (orpha.net)
  • G-quadraplexes play key roles in a number of other diseases like ALS, Fragile X syndrome, Fanconi's anemia and Friedrich's ataxia. (anti-agingfirewalls.com)
  • With this report we aim to stress the importance of screening for immune deficiency in patients with Rothmund-Thomson syndrome. (biomedcentral.com)
  • This is an evaluation of bone calcium deposition in patients with Rothmund-Thomson Syndrome (RTS). (bcm.edu)
  • In Rothmund-Thomson syndrome, symptoms develop during childhood, and although life expectancy is not affected as dramatically, patients are predisposed to develop cancer. (innovitaresearch.com)
  • Here we report the appearance of granulomatous skin lesions complicating primary Varicella Zoster Virus infection in a toddler with Rothmund Thomson syndrome and immune deficiency. (biomedcentral.com)
  • having AIDS (Acquired immune deficiency syndrome) and Epstein-Barr virus infection at the same time. (curesarcoma.org)
  • Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive skin condition. (wikipedia.org)
  • Did you mean "rothman-thomas" syndrome type 2 ? (nih.gov)
  • Infants and young children with Kindler syndrome have a tendency to blister with minor trauma and are prone to sunburns. (en-academic.com)
  • As individuals with Kindler syndrome age, they tend to have fewer problems with blistering and photosensitivity. (en-academic.com)
  • Kindler syndrome has an autosomal recessive pattern of inheritance. (en-academic.com)
  • Kindler syndrome is an autosomal recessive genodermatosis . (en-academic.com)
  • [ 4 ] Kindler syndrome was first described in 1954 by Theresa Kindler. (en-academic.com)
  • Progeria is a rare syndrome of accelerated aging that manifests early in childhood and causes premature death. (msdmanuals.com)
  • Individuals with MELAS syndrome will be admitted twice to the General Clinical Research Center (GCRC) at Texas Children's Hospital. (bcm.edu)
  • Rothmund (an ophthalmologist) originally reported two families of 5 children in which lens opacities were found, but Thomson, who was a dermatologist, in a later report did not mention cataracts. (arizona.edu)
  • Osteogenic sarcoma in the Rothmund-Thomson syndrome. (medscape.com)
  • Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. (msdmanuals.com)
  • Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) is a recessively inherited syndrome of aging causing death by age 2 years. (msdmanuals.com)
  • BACKGROUND: The affective expression of sexual behaviour in individuals with Williams syndrome can lead to risky behaviours, especially if parents do not have information on how to provide sex education or support from specialised professionals. (bvsalud.org)