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)
Metabolic Syndrome X
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)
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.
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.
Acute Coronary Syndrome
Polycystic Ovary Syndrome
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.
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)
Long QT Syndrome
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)
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).
Porcine Reproductive and Respiratory Syndrome
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.).
Carpal Tunnel Syndrome
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)
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.
Porcine respiratory and reproductive syndrome virus
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.
Respiratory Distress Syndrome, Adult
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)
Severe Acute Respiratory Syndrome
Restless Legs Syndrome
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.
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.
Acquired Immunodeficiency Syndrome
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)
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 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.
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.
Sick Sinus Syndrome
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.
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 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).
Hemorrhagic Fever with Renal Syndrome
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.
Wiskott-Aldrich Syndrome Protein
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)
Short Bowel Syndrome
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 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).
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.
Duane Retraction Syndrome
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.
Immunologic Deficiency Syndromes
Complex Regional Pain Syndromes
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)
Respiratory Distress Syndrome, Newborn
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.
Neuroleptic Malignant Syndrome
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).
Subclavian Steal Syndrome
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)
Hantavirus Pulmonary Syndrome
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.
Neoplastic Syndromes, Hereditary
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.
Thoracic Outlet Syndrome
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).
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.
White spot syndrome virus 1
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.
Hand Deformities, Congenital
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.
Hamartoma Syndrome, Multiple
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 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.
Systemic Inflammatory Response Syndrome
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.
Sleep Apnea Syndromes
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)
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.
Ovarian Hyperstimulation Syndrome
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.
Miller Fisher Syndrome
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)
Capillary Leak Syndrome
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)
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.
Molecular Sequence Data
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.
Disease Models, Animal
Acquired Hyperostosis Syndrome
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.
Superior Vena Cava Syndrome
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.
Chromosomes, Human, Pair 22
Myasthenic Syndromes, Congenital
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)
Magnetic Resonance Imaging
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).
Sudden Infant Death
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)
Hypoplastic Left Heart Syndrome
Severity of Illness Index
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.
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.
Burning Mouth Syndrome
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.
Lambert-Eaton Myasthenic Syndrome
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.
Tumor Lysis Syndrome
Malignant Carcinoid Syndrome
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)
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).
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.
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, X-Ray Computed
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-).
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.
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.
Euthyroid Sick Syndromes
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.
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.
Methyl-CpG-Binding Protein 2
Nerve Compression Syndromes
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.
Staphylococcal Scalded Skin Syndrome
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.
Heart Defects, Congenital
Ellis-Van Creveld Syndrome
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
Genetic mapping of the Camurati-Engelmann disease locus to chromosome 19q13.1-q13.3. (1/24)Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. The gene for CED, or its chromosomal localization, has not yet been identified. We performed a genomewide linkage analysis of two unrelated Japanese families with CED, in which a total of 27 members were available for this study; 16 of them were affected with the disease. Two-point linkage analysis revealed a maximum LOD score of 7.41 (recombination fraction.00; penetrance 1.00) for the D19S918 microsatellite marker locus. Haplotype analysis revealed that all the affected individuals shared a common haplotype observed, in each family, between D19S881 and D19S606, at chromosome 19q13.1-q13.3. These findings, together with a genetic distance among the marker loci, indicate that the CED locus can be assigned to a 15.1-cM segment between D19S881 and D19S606. (+info)
Localisation of the gene causing diaphyseal dysplasia Camurati-Engelmann to chromosome 19q13. (2/24)Camurati-Engelmann disease, progressive diaphyseal dysplasia, or diaphyseal dysplasia Camurati-Engelmann is a rare, autosomal dominantly inherited bone disease, characterised by progressive cortical expansion and sclerosis mainly affecting the diaphyses of the long bones associated with cranial hyperostosis. The main clinical features are severe pain in the legs, muscular weakness, and a waddling gait. The underlying cause of this condition remains unknown. In order to localise the disease causing gene, we performed a linkage study in a large Jewish-Iraqi family with 18 affected subjects in four generations. A genome wide search with highly polymorphic markers showed linkage with several markers at chromosome 19q13. A maximum lod score of 4.9 (theta=0) was obtained with markers D19S425 (58.7 cM, 19q13.1) and D19S900 (67.1 cM, 19q13. 2). The disease causing gene is located in a candidate region of approximately 32 cM, flanked by markers D19S868 (55.9 cM, 19q13.1) and D19S571 (87.7 cM, 19q13.4). (+info)
Domain-specific mutations of a transforming growth factor (TGF)-beta 1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-beta 1. (3/24)Transforming growth factor (TGF)-beta1 is secreted as a latent form, which consists of its mature form and a latency-associated peptide (beta1-LAP) in either the presence or the absence of additional latent TGF-beta1-binding protein. We recently reported that three different missense mutations (R218H, R218C, and C225R) of beta1-LAP cause the Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by hyperosteosis and sclerosis of the diaphysis of the long bones. Pulse-chase experiments using fibroblasts from CED patients and expression experiments of the mutant genes in an insect cell system suggest that these mutations disrupt the association of beta1-LAP and TGF-beta1 and the subsequent release of the mature TGF-beta1. Furthermore, the cell growth of fibroblasts from a CED patient and mutant gene-transfected fibroblasts was suppressed via TGF-beta1. The growth suppression observed was attenuated by neutralizing antibody to TGF-beta1 or by treatment of dexamethasone. On the other hand, the proliferation of human osteoblastic MG-63 cells was accelerated by coculture with CED fibroblasts. These data suggest that the domain-specific mutations of beta1-LAP result in a more facile activation of TGF-beta1, thus causing CED. (+info)
Transforming growth factor-beta 1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either activation or secretion of the mutant protein. (4/24)Transforming growth factor-beta1 (TGF-beta1) is secreted as a latent precursor, consisting of a homodimer of the latency-associated peptide and the mature peptide. TGFbeta-1 can only exert its many functions after going from this latent to an active state, in which the binding site of the mature peptide for its receptor is no longer shielded by the latency-associated peptide. We and others reported that mutations in TGFB1 cause Camurati-Engelmann disease, a rare bone disorder. Until now, seven mutations have been published. In this study, we investigate the effect of the LLL12-13ins, Y81H, R218C, H222D, and C225R mutations on the functioning of TGF-beta1 in vitro. A luciferase reporter assay specific for TGF-beta-induced transcriptional response with wild type and mutant TGF-beta1 constructs showed a positive effect of all mutations on TGF-beta1 activity. By way of enzyme-linked immunosorbent assay, we found that in the R218C, H222D, and C225R mutant constructs, this effect is caused by an increase in active TGF-beta1 in the medium of transfected cells. The LLL12-13ins and Y81H mutations on the contrary have a profound effect on secretion; a decreased amount of TGF-beta1 is secreted, but the increased luciferase activity shows that the intracellular accumulation of (aberrant) TGF-beta1 can initiate an enhanced transcriptional response, suggesting the existence of an alternative signaling pathway. Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease. (+info)
Camurati-Engelmann's disease: a case report. (5/24)Camurati-Engelmann's disease is a rare condition worldwide. No cases have been documented in Uganda. A 26 year old female presented with a history of grinding pain in the limbs for over 20 years. Strong painkillers would temporally relieve the pain. She had an asthenic stature with generalised reduction in muscle bulk. Plain x-rays revealed the characteristic symmetrical thickening and sclerosis of the diaphyses of the appendicular skeleton and skull base, which is pathognomonic of Camurati-Engelmann's disease. Involvement of the metaphyses of these long bones as well as the metacarpal bones makes this an unusual case. (+info)
The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). (6/24)Gnathodiaphyseal dysplasia (GDD) is a rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. By linkage analysis of a large Japanese family with GDD, we previously mapped the GDD locus to chromosome 11p14.3-15.1. In the critical region determined by recombination mapping, we identified a novel gene (GDD1) that encodes a 913-amino-acid protein containing eight putative transmembrane-spanning domains. Two missense mutations (C356R and C356G) of GDD1 were identified in the two families with GDD (the original Japanese family and a new African American family), and both missense mutations occur at the cysteine residue at amino acid 356, which is evolutionarily conserved among human, mouse, zebrafish, fruit fly, and mosquito. Cellular localization to the endoplasmic reticulum suggests a role for GDD1 in the regulation of intracellular calcium homeostasis. (+info)
Camurati-Engelmann disease: review of the clinical, radiological, and molecular data of 24 families and implications for diagnosis and treatment. (7/24)Camurati-Engelmann disease (CED) is a rare autosomal dominant type of bone dysplasia. This review is based on the unpublished and detailed clinical, radiological, and molecular findings in 14 CED families, comprising 41 patients, combined with data from 10 other previously reported CED families. For all 100 cases, molecular evidence for CED was available, as a mutation was detected in TGFB1, the gene encoding transforming growth factor (TGF) beta1. Pain in the extremities was the most common clinical symptom, present in 68% of the patients. A waddling gait (48%), easy fatigability (44%), and muscle weakness (39%) were other important features. Radiological symptoms were not fully penetrant, with 94% of the patients showing the typical long bone involvement. A large percentage of the patients also showed involvement of the skull (54%) and pelvis (63%). The review provides an overview of possible treatments, diagnostic guidelines, and considerations for prenatal testing. The detailed description of such a large set of CED patients will be of value in establishing the correct diagnosis, genetic counselling, and treatment. (+info)
Rare osteodysplasia of the temporal bone. (8/24)Temporal bone osteodysplasia can produce many different symptoms, such as involvement restricted to the temporal bone or impairment of other bones. We consider, in this study two entities that are rare osteodysplasia cases, which are osteopetrosis and Camurati-Engelmann disease, the latter being extremely rare. We present two cases of benign form of osteopetrosis (Albers-Schulenburg's disease), a patient of 11 years old and another one of 48 years old, both male, and a patient of 28 years old, female, with Camurati-Engelmann's disease. The facial palsy was a manifestation in two of the patients. We discuss some aspects about the clinical manifestations, radiological findings, as well as differential diagnostic and therapy in view of the complications of the diseases. (+info)
Transforming growth factor-beta-1 mutations in Camurati-Engelmann disease lead to increased signaling by altering either...
Janssens K., ten Dijke P., Ralston S.H., Bergmann C., Van Hul W.. Transforming growth factor-beta1 (TGF-beta1) is secreted as a latent precursor, consisting of a homodimer of the latency-associated peptide and the mature peptide. TGFbeta-1 can only exert its many functions after going from this latent to an active state, in which the binding site of the mature peptide for its receptor is no longer shielded by the latency-associated peptide. We and others reported that mutations in TGFB1 cause Camurati-Engelmann disease, a rare bone disorder. Until now, seven mutations have been published. In this study, we investigate the effect of the LLL12-13ins, Y81H, R218C, H222D, and C225R mutations on the functioning of TGF-beta1 in vitro. A luciferase reporter assay specific for TGF-beta-induced transcriptional response with wild type and mutant TGF-beta1 constructs showed a positive effect of all mutations on TGF-beta1 activity. By way of enzyme-linked immunosorbent assay, we found that in the R218C, ...
List of variants studied for Camurati-Engelmann disease by Genomic Research Center, Shahid Beheshti University of Medical...
The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional. ...
SCA124Hu | 转化生长因子β1(TGFb1)检测试剂盒(化学发光免疫分析法) | Homo sapiens (Human，人) USCN(武汉优尔生商贸有限公司)
SCA124Hu, CLIA Kit for Transforming Growth Factor Beta 1 (TGFb1), 转化生长因子β1(TGFb1)检测试剂盒(化学发光免疫分析法), TGF-B1; CED; DPD1; LAP; Camurati-Engelmann Disease; Latency-associated peptide | 仅供体外研究使用，不用于临床诊断！请索取进口关税税单及报关单！
SCA124Hu | CLIA Kit for Transforming Growth Factor Beta 1 (TGFb1) | Homo sapiens (Human) USCN(Wuhan USCN Business Co., Ltd. )
SCA124Hu, CLIA Kit for Transforming Growth Factor Beta 1 (TGFb1), TGF-B1; CED; DPD1; LAP; Camurati-Engelmann Disease; Latency-associated peptide | Products for research use only!
Theresa Guise, MD | Center for Diabetes and Metabolic Diseases
Our long-standing research program includes the study of cancer and cancer treatment on the musculoskeletal system. Most recently, we have shown that TGF-b, released as a consequence of increased osteoclastic bone resorption [in states of bone metastases as well as non-malignant Camurati-Engelmann Disease (CED)], causes muscle weakness by oxidation of the skeletal muscle calcium channel ryanodine receptor (RYR). Since oxidation of RyR can impair insulin secretion, we want to determine if states of high bone turnover associated with increased systemic TGF-b also result in impaired insulin secretion and altered glucose metabolism. These studies fit in the Cellular and Molecular Metabolism as well as Islet Function and Survival. ...
transforming growth factor - oi
TGF). A family of growth factors secreted by transformed cells that induce the phenotypic characteristics of cell transformation (e.g. the ability to grow in semisolid agar), but do not cause hereditable changes. TGFα (50 aa) binds to the EGF receptor and will stimulate the growth of microvascular endothelial cells. TGFβ is a homodimer (two 112 aa chains) secreted by many different cell types and a growth inhibitor for some cell types. Mutations in TGFβ cause Camurati-Engelmann disease. The TGF family includes many of the bone morphogenetic proteins (BMPs). See activin; syndecans. ...
Bells Palsy & Genu Valgum Deformity & Narrowing of Medullary Canal: Causes & Reasons - Symptoma
Bells Palsy & Genu Valgum Deformity & Narrowing of Medullary Canal Symptom Checker: Possible causes include Camurati-Engelmann Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
ribbing for sweatshirts
the first was facing, the second was the flat collar) So lets talk ribbing. 1x1 feels pretty close to stockinette unless it is really stretched out (too tight on the head). The knit can be used Cotton Rib Knit Fabric is perfect for cuffs, collars, wristbands, neckbands and waistbands. TAX, excl. Time to shop - these are the lowest Cricut prices of the year! Knit Rib Elastane Waistbands Ribbing Strip, Neotrims Stretch 2 x 2 Fabric Material, Soft Handle, Great Recovery Resilient. We have sourced corresponding ribbing material for our 100% Organic Cotton Sweatshirt Fleece. Take your me-made sweatshirts and loungewear to the next level! Time to shop - these are the lowest Cricut prices of the year! Alright next lesson in sewing 101 is another really easy way to finish a neckline. Use Garment Cuffs, Collars, Welt Edge. You never know when youll have just the right color in that stash of saved ribbing. Find ribbing here by the metre, or opt for some pre-cut ribbing if you only need a small piece. ...
5-Pack 24 Inch Persimmon Orange Parallel Ribbing Round Paper Lantern | Parallel Ribbing Round Paper Lanterns | Luna Bazaar |...
TIMELESS EVENT DECOR OR HOME ACCENT - Paper lanterns or traditional Chinese & Japanese lanterns are ideal for creating instant party vibes in weddings, holidays, birthdays, baby showers, or enhancing indoor or outdoor themes! Available in diff...
Silk white Sweatshirt with ribbing - for | Moncler GB
Moncler silk white Sweatshirt with ribbing: discover all the exclusive styles of for . Shop from the official online store Moncler GB and get free delivery.
CLOSEOUT 4 Inch Papaya Parallel Ribbing Round Paper Lantern (10 PACK) | Parallel Ribbing Round Paper Lanterns | Luna Bazaar |...
Product Details:Color: Papaya OrangeDimensions: 4 W x 3.5 H (See Lantern Size Comparison) Opening Dimensions: 2 Top, 1.5 Bottom# of Lanterns: 10-packStyle: Parallel RibbedMaterial: Sturdy PaperLighting: Not Included - See Compatible String Li...
Happy Feet, er, New Year… | carpe diem!
Actually completed on Christmas Eve eve. I did a twiddle at the beginning of the ribbing, using M1s and P2tog to split the K2P2 ribbing evenly into K1P1, then cabled the resulting single ribs to make a band a little tighter than the ribbing, just to hold it more firmly. I like the look, but…
Man Outruns Obesity After Bosss Ribbing : NPR
Not long ago, Antonio Douglas, 45, tipped the scales at 331 pounds. His boss, Frank Lynch, bugged him about it enough that Douglas finally challenged him to a race -- despite a 25-year age gap. And then they had a rematch.
Ribbing Aside, Celery Terms Can Lead To A Bunch Of Confusion - tribunedigital-chicagotribune
Q--What is the difference between a rib, a stalk and a bunch of celery?Martha Kimm, GenevaA--A stalk or bunch of celery refers to a number of branches or ribs with a central heart. Americans use the
Coteau Hat & Scarf - Brown Sheep Company, Inc.
Go back to nature with this set inspired by the geometric natural pattern of the hillside, called coteau in French. This practical matching set will keep you warm while you walk through beautiful prairies or along a vineyard. The hat is knitted in the round and the scarf flat. They feature an interesting stitch pattern made of alternating large ribbing and lace chevrons. The pattern is repeated all over the scarf, and once on the hat. The large ribbing continues then towards the crown where its decreased forming a flower-like pattern.. The hat is worn with no ease, close to your ears and you can wrap the medium length scarf once or twice around your neck for a fitted or more casual look.. Yarn required: 2 skeins Prairie Spun DK [scarf]; 1 skein [hat]. Shown in PSDK10 Rain Cloud. ...
Find other content tagged with freshwater fly
This fly keeps getting sold out at my work. We cannot keep them in stock. They are some of the best, and most productive annelid patterns we carry. The deep ribs, and contrast with the thread and D-Rib create a super bold fly that attracts fish like crazy! It took a few tries to figure out how to tie this fly, but after I figured it out, it really isnt all that difficult. I will say, the original that we have at our work doest have the black tag at the end, but seems to get the black ribs another way. While I can tie them that way as well, they take a bit longer, and I find this way is easier and quicker. Its also just as effective. Here is a list of materials I used on the fly Hook: Umpqua U203 in size 20 Red Thread: UTC Ultra Thread 70 Black Thread: Danvilles fly master 6/0 Ribbing: Midge sized D-Rib in Red Finishing Resin - Solarez Bone Dry UV curing resin ...
Blue Gradient Sweatshirt - Bubble Gum Surf Wax
Bubble Gum Blue Gradient Pullover Hoodie Bone Printed on Independent Trading Company Blanks. 9oz (300 gm) 80% cotton/20% polyester blend Ring spun cotton 100% cotton 30 singles face yarn Jersey lined hood Split stitch double needle sewing on all seams Twill neck tape 1 x 1 ribbing at cuffs and waistband Sewn eyelets S
Mens Muscle Singlet - Price Fitness
Regular fit Sleeveless tank, raw armhole edges Light weight, 150 GSM, 34-singles 100% combed cotton (marles 15% viscose) Neck ribbing, double needle bottom hem…
Search Results - - 2,896 Results - The Portal to Texas History
Description: Patent for Tie-Plate, which is an improvement on rail ties for railroad use. The Tie-Plate is a single piece of material, providing a rail supporting surface (pg. 2, lines 13-17). Ribbing in the plate, allow for adjustable height to support the rails and a seat for the spikes. ...
Slurple Brain Black Hoodie - Cum Town
80/20 cotton/polyester blend 3-end fleece with 100% cotton face Generous fit Fleece lined hood Split stitch double needle sewing on all seams Twill neck tape 1x1 ribbing at cuffs and waistband Nickel eyelets Tearaway label Printed on Independent Trading Co. Heavyweight Pullover Hoodie
Fit Crewneck - Cum Town
55/45 cotton/polyester with 100% cotton face Split stitch double needle sewing on all seams Twill neck tape 1x1 ribbing at collar, cuffs and waistband Standard fit Tear away neck label Printed on Independent Trading Co. Midweight Crewneck Sweatshirt
Whip Finish IndustriesSulphur Emerger - Whip Finish Industries
Rib: Small Copper Wire. Ultra Wire is a non-tarnishing copper wire. It is available in a tremendous range of colors and sizes. Use Ultra wire for ribbing, weight, flash, wire bodies, and dubbing brushes. Brassie size is perfect for Brassies in sizes 18-22. Extremely popular for fly designer John Barrs Copper John. Available in sizes Small, Brassie and Medium.. ...
Lollipoppers Sophia Red W/p (d) [DJ581701]
LOLLIPOPPERS SOPHIA RED W/P (D) (DJ581701) by Doc Johnson - Designed for easy handling and use these buttplugs feature a small rounded tip for easy insertion and a gradual tapered design with raised ribbing for extra anal...
Opaline glass chandelier (ahl2665) | Remains.com
A large cast opaline glass inverted dome chandelier with floral details and ribbing on the lens and foliate cast bronze chain mounts. The hardware for this fixture was made by the Remains Lighting workshop. Due to the antique nature of this fixture, there may be some nicks or imperfections in the glass.. ...
Canadas Rio-bound women sprinters giving men a run for their money
TORONTO - At the Toronto Track and Field Centre at York University, where most of Canadas top sprinters train, there was some good-natured ribbing going on this week.The athletes were just home from...
Handmade from the Heart T-Shirt for Quilters
One color is a natural cotton, quite like quilters muslin. Full cut, short sleeve, a unisex sizing and style. The white shirts are a ladies cut with a full body and shorter sleeves and ribbing for a more femine look. The shirts are extra fun and cute by adding rhinestone earrings
Reaction Innovations Double Wide Beaver - TackleDirect
Reaction Innovations Double Wide Beaver - The Reaction Innovations Double Wide Beaver creature bait is made for flipping big fish. This bait features ribbing on the side and
Womens Its a Test Mission Patch T-Shirt - White - Rocket Lab (NZ & AU)
Womens short sleeved, regular fit t-shirt in white. Mission Patch on front and Rocket Lab logo on back. Crew neck, mid weight, 100% combed cotton (marles 15% polyester). Neck ribbing, side seamed, shoulder to shoulder tape, double needle hems and preshrunk to minimise shrinkage.
Crimson Off-the-shoulder ruffled paneled jacquard blouse | Hellessy | NET-A-PORTER
Worn as part of the first outfit on Hellessys Spring 19 runway, this off-the-shoulder ruffled blouse set the tone for the summer-inspired collection that followed. Its made from crimson and cream jacquard detailed with panels of tactile ribbing and has internal boning for added support. Wear yours with the labels [navy pants id1137315], as seen at the show.Shown here with: [Hellessy Pants id1137315], [Hillier Bartley Clutch id1106107], [Aquazzura Sandals id1124619], [Sophie Buhai Earrings id1136271].
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Quail Studio Amber from Essential Sweaters is a womens loose-fitting pullover that features raglan long sleeves, a crew neck and short row shaping in Felted Tweed. Amber is knit flat from the bottom up and then seamed together. The neckband is picked up along neck edging and knit flat in ribbing. Rowan Felted Tweed is a luxurious blend available in a delightful array of heathered shades. ...
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We stock a curated range of sewing accessories inc. Scanfil organic sewing thread to match our fabrics, Merchant & Mills, needles, pins, scissors, ribbing, KATM woven labels and more....
Preston duo Declan Rudd and Patrick Bauer have inspired each other back to full fitness | Lancashire Evening Post
He made two notable saves, one in the first half from David Turnbull and then to deny Ewan Henderson a late equaliser. In some post-match ribbing in the dressing room, Rudds team-mates felt that 89th-minute save was one for the cameras. ...
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Constructed from high impact ABS thermoplastic moulding with impact absorbing accentuated ribbing and further lined with impact absorbing foam laminate. The outer skin being aesthetically pleasing and user friendly. The protector gives excellent front and
Kansas Wildflowers and Grasses - Engelmanns evening-primrose
Radially symmetric; hypanthium 4/5 to 1.2 inch, pilose and finely strigose; sepals 4, deciduous, absent on fruit, reflexed, lanceolate, 2/5 to 4/5 inch, distinct at flowering; petals white, fading pink, 4, broadly obovate, 1/2 to 4/5 inch, tip rounded or slightly emarginate; stamens 8, anthers 1/6 to 1/4 inch; stigma positioned above anthers, deeply 4-lobed, lobes 1/12 to 1/7 inch. ...
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The pajamas and jumpsuit are designed for stretch knits only. We suggest sweatshirt fleece, velour, blanket fleece, double knit, interlock or single knit. The misses pajamas and jumpsuit have a zipper opening on the front, elastic in casing at the waist and ribbing neckband and cuffs. View A has feet. View B has ribbing cuffs at the bottom of the legs. Sizes: XS-S-M-L-XL |br||a href=http://d2d00szk9na1qq.cloudfront.net/Images/PDF/2175.pdf|Click here for pattern back.|/a|
So, back to the pattern...this is an instant gratification project. I added ribbing to the neckband and used it at the cuffs as well. I love the length of the sleeves. Being 57, sometimes they are a tad so short but this is perfect! My only minor complaint is the neckline is simply folded over and hemmed. That isnt my preferred method of hemming necklines and I didnt have enough fabric to make a neckband to add so...I found this black ribbing at Hancocks. I also thought that I needed to break up the stripe a bit so the pockets were necessary ...
Molecular engineering of short half-life small peptides (VIP, αMSH and γ3MSH) fused to latency-associated peptide results in...
Results The recruitment of the polymorphonuclear cells induced by MSU injection into mouse peritoneal cavity was reduced by 35% with γ3MSH (1 nmol), whereas administration of a much lower dose of purified latent LAP-MMP-γ3MSH (0.03 nmol) attenuated leucocyte influx by 50%. Intramuscular gene delivery of plasmids coding LAP-MMP-VIP and LAP-MMP-αMSH at disease onset reduced the development of CIA compared with LAP-MMP, which does not contain any therapeutic moiety. Histological analysis confirmed a significantly lower degree of inflammation, bone and cartilage erosion in groups treated with LAP-MMP-VIP or LAP-MMP-αMSH. Antibody titres to collagen type II and inflammatory cytokine production were also reduced in these two groups.. ...
US4332036A - Universal joint prosthesis with cap - Google Patents
A prosthesis for forming the spherical part of a hip joint with a calotte-shaped cap is disclosed. The inner surface of the prosthesis is provided with grooves and ribs which are evenly distributed over the circumference of the inner surface and extend along planes which, in turn, extend through the rotational symmetry axis of the outer cap surface. A sleeve having jacket is provided with holes is rigidly secured at the inner end of the inner cap surface on the cap and projects partly out of the latter. The ribbing of the inner cap surface and the sleeve permit the prosthesis to be firmly and durably secured in an operation on the bone without cement.
Final Fantasy of Nordlicht
GSDC of America---1995---Select#10 This is a sable that was not flashy or eye catching until the end. She made all the cuts and continued to demonstrate that she deserved a Select award. Overall she can be characterized as being agile and well muscled. She has good bone and substance with excellent secondary sex characteristics. Her neck is long and strong. Both standing and in motion her withers are high and they slope into a strong back. She has good ribbing and shoulder blades that are long and equal in length to her upper arm. Her strongest characteristic is her sidegait which is smooth and powerful. ~ Carmen Battaglia 2000 Register of Merit Dam ...
Jane-Eyeington-d1183aa8 - Judges Critiques by Kennel Club
National Gundog Championship Show 7th August 2016 Judge - Mrs Jane Eyeington (Meadowdale) I would like to thank National Gundog Championship Show for inviting me to judge my beautiful breed at this super show. To my stewards, thank you for keeping me in order. Most especially to the exhibitors for the pleasure of your super dogs. Veteran - Dog Entries: 3 Absentees: 0 1ST SH CH JOROBADEN ALDERNITI OF EMIANNA JW (MRS AC HAPPS) A fine example of the breed to start the day, this L&W dog is now coming up 8 years old and like a fine wine is getting better with age. Thought him to be a very honest dog, with nothing overdone. His outline is compact with strength. He has a pleasing head which is well balanced, lovely depth and ribbing, well boned limbs, and holding a firm level topline. On the move he showed to have true parallel hind action with good drive, holding his shape well with an ever wagging tail - BV 2ND SH CH REUBENS SILENT REFLECTION JW (MRS M C DOWNWARD) This dog defies the aging process, ...
Technical Ear Loop Face Mask- Zensah
These breathable face masks are proudly made in the USA. Unlike cotton masks, Zensah Technical Ear Loop Face Masks are antibacterial, odor-free, thermal regulating, anti-static, quick drying, breathable, and ultra comfortable while providing a layer of protection. Ribbing on the nose and chin for a better fit to keep t
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The filter media are arranged in layers. Brushes are ideal for water pre-treatment, or mechanical filtration. At the same time, they provide an excellent substrate for the development of live bacterial cultures.. The next stage of mechanical filtration is performed by the phenol-free sponge. Additionally, sponge constitutes a particularly favourable environment for the development of bacterial cultures responsible for the removal of biological pollutants from the tank.. Thanks to its structure, coconut mat is an excellent medium of mechanical filtration and an excellent substrate for the bacterial cultures responsible for biological filtration.. The polystyrene balls have ribbings and small orifices at both poles. Their action is based on the differentiation of aerobic conditions for biochemical processes. On their outer surface, aerobic conditions are favourable for the oxidation of organic compounds. The inner surface acts as an anaerobic micro-reactor where the reduction of organic compounds ...
METALLIC EYELASH SWEATER | MIA NEW YORK
MIA NEW YORK Metallic Eyelash Sweater -Soft, Metallic Gold Eyelash Sweater -Ribbing at Neckline, Cuffs, and Hem -Content: 100% Viscose -Hand wash cold separately. Do not bleach. Line dry.
Youll have it in no time. Once you learn the continental method, youll find places to use it all the time. I love it for ribbing. And when Im doing a straight stockinette project, like the one Im working on now, its the best. ...
Pop Art Marilyn Crop Top Hoodie: Zero Gravity Glass
Our Womens Crop Hooded Pullover is slim fit, extremely soft, with a raw edge waist. We use premium ring-spun cotton and 40 Singles 100% Cotton Face yarn to achieve a smooth and stable fabric surface for printing. Completed with our quality construction, a raw edge waist, flat drawcord, sewn eyelets, and 1x1 ribbing at cuffs.
DONT SWEAT ME SWEATER- BLACK - ESS.BEE
MADE FROM A HEAVY WEIGHT HIGH QUALITY COTTON FLEECE 7CM HIGH NECK RIBBING AND SIDE INSEAM POCKETS FRONT LOGO EMBROIDERY OVERSIZED FIT. SITS GENEROUSLY ON THE BODY. MODELS ARE BOTH WEARING A SIZE 1. SIZING INFORMATION: PLEASE NOTE THIS IS A GENERAL GUIDE TO WOMENS SIZING 0: Extra Small 1: Small 2: Medium 3: Large DELIV
ADULT- All I Want for Christmas, SOCIAL JUSTICE, Tee (Red) - Heart Blaster Clothing
Social Justice Tee (Red) Regular fit Crew neck Mid weight, 5.3 oz/yd2, 28-singles 100% combed cotton (heathers 15% polyester) Neck ribbing, side seamed, shoulder to shoulder tape, double needle hems, preshrunk to minimize shrinkage Unisex Available in Adult sizes S, M, L, XL, XXL
Colourblock Zip-up Hoodie - Charcoal Marl | Boden UK
Colourblock Zip-up Hoodie - Charcoal Marl. Colourblock Zip-up Hoodie.Charcoal Marl.Whatever the day brings, keep Mini adventurers toasty with this zip-up hoodie. Weve given it a relaxed raglan shape and snug ribbing around the hem and cuffs to firmly lock out chills. Contrasting colours pop from the hood and sleeves. Look for the two handy front pockets - perfect for warming cold fingers.
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ADULT- All I Want for Christmas, SOCIAL JUSTICE, Tee (Black) - Heart Blaster Clothing
All I Want for Christmas Tee (Black) Regular fit Crew neck Mid weight, 5.3 oz/yd2, 28-singles 100% combed cotton (heathers 15% polyester) Neck ribbing, side seamed, shoulder to shoulder tape, double needle hems, preshrunk to minimize shrinkage Unisex Available in Adult sizes S, M, L, XL, XXL
Matt, Meredith Pass Their Chemistry Test - The Morning Call
Viewers seek anchors with an authentic camaraderie in the morning because it is an especially intimate time, said Stuart Fischoff, senior editor of the Journal of Media Psychology.. Its like getting married -- youre inviting people into your home, your kitchen, even your bathroom, he said. The last thing you want are people who are going to annoy you.. Although the elements of on-air chemistry are somewhat ineffable, its clear that much of it hinges on good-natured ribbing. When Bryant Gumbel and Jane Pauley started off as Today co-anchors in the early 1980s, producers understood the pairing would be successful once he began harping about how messy she kept her side of the desk and she, in turn, taunted him for being fastidious, Griffin noted.. All of a sudden, these figures were human, he said.. Less effective was Gumbels partnership with Deborah Norville, Pauleys successor, whose formal demeanor did not mesh well with her co-anchors gruffness. She was quickly replaced by Couric, ...
Cock Robin Emerger/Dry | Global FlyFisher
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Quarter Acre Dandelion Farm
I knitted the little hoodie sweater for my sons best friends first baby - little AJ. The shower was last Sunday. The pattern is Hooded Cardigan 3898 by Sirdar Spinning using Sirdar Snuggly DK. It wasnt a difficult pattern but the instructions were written by a U.K. company for British knitters. Im not an expert knitter but have enough experience to be able to get the gist of what the writer was talking about. For example, commencing with the second row, work one inch of one by one ribbing. After picking up a couple hundred stitches around the fronts and hood, I figured out the direction I had to be going to get the button holes on the boys side, as if that really matters....Patterns written in the US in 2017 would tell you to work one knit row, then start the ribbing. No matter, it came out fine, because I have many baby sweaters in my rear view mirror. Im loving the cool blues right now because its HOT HOT ...
Caladium bicolor ( White Christmas Caladium ) | Backyard Gardener
White Christmas produces foliage in shimmering white with green veining and ribbing.A favorite valued for its multi-colored, large, arrow-like leaves. Fo
Chris Mad Dog Russo : TALKERS magazine - The bible of talk media.
thought. I am honored to join the team led by Mark Levin, Michelle Malkin, Phil Robertson, Steven Crowder, Matt Kibbe, Deneen Borelli, and Gavin McInnes. For those that love The Wilkow Majority, this new TV program will be a natural extension. Two other new programs debuting in January are Roaming Millennial: Uncensored, starring YouTube sensation Roaming Millennial, and twice-per-week videos from Allie Stuckey. CRTV is parent of the Conservative Review.. Friends and Stars Abound on Mike Francesas Penultimate WFAN Show. Todays final show will be a bit more subdued that Thursdays program done live at the Paley Center for Media. Mike Francesa says today itll be just callers and him, with the last half hour or so just him talking to his fans. But, Thursdays show involved a gaggle of friends and fellow broadcasters saluting - and ribbing - Francesa on the second-to-last day of his 30-year career at WFAN, New York. Newsday reports the count of guests was 85 and included former WFAN partner ...
Jobst Compression Thigh Highs for Men 20-30mmHg
Jobst For Men Thigh Highs 20-30mmHg have a smooth toe seam bubble toe for comfort and ribbing from the knee down so they look just like dress socks. This is the only Thigh High support stocking designed specifically for men. Silicone dot band keeps the stockings up without the use of garters or glue. Available in Black and Khaki Fiber Content: 71% nylon 25% spandex 4%. Made in USA.
Bolseno - (F1) Tomato Seed | Johnnys Selected Seeds
Bred in Italy with old-world character. 7–12 oz. fruits with light ribbing and intense red color. Flavor is enhanced by strong acidity. Bolseno was bred for ...
PapiChulo Jacket on SKYOU
Heavyweight french terry fabric makes for a refined garment. Set-in sleeve construction, and cotton/spandex ribbing. - 100% cotton - 350 gsm heavyweight french terry - Standard fit - 2 piece lined hood
W Squall Sweatshirt4 on SKYOU
Lightweight french terry fabric makes for a refined garment. Raglan sleeve construction, and cotton/spandex ribbing. Slim fit, size up for looser fit. - 260gsm 100% cotton french terry - Slim fit, size up for looser fit
Ive known Big CED for almost 20 years now, and what I like about him most is that hes still the same person now that he was back then! In this business its hard to find genuine people, especially because the power of ones network along with success and money can often times change someones character. But not CED, he is one of the most coolest people I know, and is also the only guy that I can call a smart-ass, but in a cool way (haha). In addition, CED is very opinionated, hes a realist, and you always know where you stand with him. ...
Born in Warwick, Rhode Island, he began using a wheelchair at the age of 13 due to a bone disease, Camurati-Engelmann syndrome ...
... therapeutic brain stimulation Camurati-Engelmann disease, also called "Camurati Engelmann syndrome" (CES) Carboxylesterase, an ... of sequences of code units to sequences of bytes ICAO Code designator for China Eastern Airlines Cauda equina syndrome, a ...
List of orthopaedic eponyms
... syndrome Apert syndrome Beals syndrome Bechterew's Bruck syndrome Camurati-Engelmann disease Catel-Manzke syndrome Cole ... syndrome Conradi-Hünermann syndrome Currarino syndrome Ehlers-Danlos syndrome Eiken syndrome Ellis-van Creveld syndrome ... syndrome Marshall-Smith syndrome McCune-Albright syndrome Melnick-Needles syndrome Morton's toe Ollier disease Rett syndrome ... Rubinstein-Taybi syndrome Scheuermann's disease Schwartz-Jampel syndrome Silver-Russell syndrome Teunissen-Cremers syndrome ...
... may refer to: Camurati-Engelmann disease, a rare genetic syndrome The Canadian Eskimo Dog Capacitance Electronic Disc, a ...
Ellis-van Creveld syndrome
Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see 'Nomenclature' section ...
... used a wheel chair from the age of 13 because of the Camurati-Engelmann syndrome. He died on February 10, 2006, at the age of ... Camurati-Engelmann disease on Genetic Home Reference GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease Wallace, ... Camurati‐Engelmann Disease. Acta radiologica, 44(4), 430-434. Mason, J., & Slee, I. (1968). Anaesthesia in Engelmann's disease ... Type 2 Camurati-Engelmann Disease is still speculative, with no distinct evidence to credit its existence. There are many ...
... see Camurati-Engelmann disease.. Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects ... Angelman syndrome in the McGraw-Hill Dictionary of Scientific & Technical Terms *^ a b Angelman syndrome in the American ... Facts about Angelman syndrome (PDF) Archived May 27, 2013, at the Wayback Machine. Anonymous. Angelman syndrome Foundation (US ... 1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation". Am. J. Med. Genet. 56 (2): 237-8. ...
List of diseases (C)
... syndrome G-alajara type 2 Camptodactyly taurinuria Camptodactyly vertebral fusion Campylobacteriosis Camurati-Engelmann disease ... CCA syndrome Ccge syndrome CCHS CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 CDG syndrome ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...
Malignant infantile osteopetrosis
Camurati-Engelmann disease) SOST-related sclerosing bone dysplasias The only effective line of treatment for malignant ... Buschke-Ollendorff syndrome) Osteopathia striata with cranial sclerosis Mixed sclerosing bone dysplasia Progressive diaphyseal ... with renal tubular acidosis Infantile osteopetrosis with immunodeficiency IO with leukocyte adhesion deficiency syndrome (LAD- ...
Camurati-Engelmann disease) SOST-related sclerosing bone dysplasias Sclerosis of the bones of the thoracic spine due to ... Buschke-Ollendorff syndrome) Osteopathia striata with cranial sclerosis Mixed sclerosing bone dysplasia Progressive diaphyseal ... "Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the "hot knees" sign ... Osteosclerosing types of chronic osteomyelitis Hypervitaminosis D hypoparathyroidism Schnitzler syndrome Skeletal fluorosis ...
Camurati-Engelmann disease), SOST-related sclerosing skeletal dysplasias. Besides, the differential diagnosis includes acquired ... and carpal tunnel syndrome. About 40% of patients will experience recurrent fractures of their bones. 10% of patients will have ... Buschke-Ollendorff syndrome), osteopathia striata with cranial sclerosis, mixed sclerosing skeletal dysplasias, progressive ... infantile osteopetrosis with leukocyte adhesion deficiency syndrome (LAD-III), pyknodysostosis (osteopetrosis acro-osteolytica ...
List of eponymous diseases
Jacques Calvé Camurati-Engelmann disease (a.k.a. Camurati-Engelmann syndrome, Engelmann disease, Engelmann syndrome) - M. ... Hakaru Hashimoto Havisham syndrome (a.k.a. Diogenes syndrome, Miss Havisham syndrome, and Plyushkin syndrome) - Miss Havisham, ... Havisham syndrome, Miss Havisham syndrome, Plyushkin syndrome)- Diogenes of Sinope (the particular usage, Diogenes syndrome, is ... syndrome - Moritz Simmonds Sipple's syndrome - John H. Sipple Sjögren's syndrome - Henrik Sjögren Sjögren-Larsson syndrome - ...
List of OMIM disorder codes
SOX9 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome; 208250; PRG4 Camurati-Engelmann disease; 131300; TGFB1 Canavan ... 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 ...
Index of trauma and orthopaedics articles
Camurati-Engelmann disease - Cancellous bone - Cartilage - Cartilaginous joint - Catel-Manzke syndrome - Cenani-Lenz ... Ehlers-Danlos syndrome - Eiken syndrome - Elbow examination - Elbow extension test - Ellis-van Creveld syndrome - Enchondroma ... Marfan syndrome - Marie-Strümpell disease - Marshall syndrome - Marshall-Smith syndrome - Martin-Gruber Anastomosis - Mayfield ... Antley-Bixler syndrome - Apert syndrome - Apley grind test - Apley scratch test - Apprehension test - Arachnodactyly - Arm ...
Among some of the most common alternatives are Ekman-Lobstein syndrome, Vrolik syndrome, and the colloquial glass-bone disease ... Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Brittle bone disease, Lobstein syndrome, fragilitas ossium, Vrolik disease, osteopsathyrosis, Porak disease, ... Other differential diagnoses include rickets, osteomalacia, and other rare skeletal syndromes. Treatment. There is no ...
FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome). *FGFR2 (Apert syndrome, Antley-Bixler syndrome, Pfeiffer syndrome, Crouzon ... Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... AMHR2 (Persistent Müllerian duct syndrome II). *TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia ... and Crouzon syndrome with acanthosis nigricans". Endocr. Rev. 21 (1): 23-39. doi:10.1210/er.21.1.23. PMID 10696568.. ...
Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansen's metaphyseal chondrodysplasia. *Schmid metaphyseal ... Conradi-Hünermann syndrome. Other dwarfism. *Fibrochondrogenesis. *Short rib - polydactyly syndrome *Majewski's polydactyly ...
Ghosal hematodiaphyseal dysplasia
Also, Camurati-Engelmann disease has no sign of defective haematopoiesis, but Ghosal hematodiaphyseal dysplasia is associated ... March 2008). "Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)". Nature Genetics. 40 (3 ... Although this disease is like Camurati-Engelmann disease where there is also diaphyseal dysplasia, there are, however, reasons ... Ghosal syndrome)". Nature Genetics. 40 (3): 284-286. doi:10.1038/ng.2007.66. ISSN 1546-1718. PMID 18264100. Jeevan A, Doyard M ...
Videos • Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome. On-line free medical diagnosis assistant. Ranked list of possible diseases from either several ... Camurati-Engelmann Syndrome. SINDROME DE CAMURATIENGELMANN 3.1 - YouTube. El pasado mes de Febrero se realizo la primera ... Camurati-Engelmann disease (Medical Condition .... Symptoms, risk factors and treatments of Camurati-Engelmann disease (Medical ... I have Camurati-Engelmanns disease and have had this procedure done many times up .... youtube.com - Mon, 25 Apr 2011 16:58. ...
Camurati-Engelmann disease: MedlinePlus Genetics
... thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann ... Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, ... medlineplus.gov/genetics/condition/camurati-engelmann-disease/ Camurati-Engelmann disease. ... Camurati-Engelmann syndrome. *CED. *Diaphyseal dysplasia. *Diaphyseal hyperostosis. *Diaphyseal osteosclerosis. *Engelmann ...
Ellis-van Creveld syndrome - Wikipedia
Camurati-Engelmann disease. Metaphysis. *Metaphyseal dysplasia. *Jansens metaphyseal chondrodysplasia. *Schmid metaphyseal ... Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, ... Alström syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration. ... Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see Nomenclature section ...
Angelman syndrome - Wikipedia
... see Camurati-Engelmann disease.. Angelman syndrome or Angelmans syndrome (AS) is a genetic disorder that mainly affects ... Angelman syndrome in the McGraw-Hill Dictionary of Scientific & Technical Terms *^ a b Angelman syndrome in the American ... Facts about Angelman syndrome (PDF) Archived May 27, 2013, at the Wayback Machine. Anonymous. Angelman syndrome Foundation (US ... 1995). "Angelman syndrome: consensus for diagnostic criteria. Angelman syndrome Foundation". Am. J. Med. Genet. 56 (2): 237-8. ...
Search of: 'Camurati-Engelmann disease' [DISEASE] OR NCT00001754 [ID-NUMBER] - List Results - ClinicalTrials.gov
The Effects of Vitamin D on Transforming Growth Factor-beta1 in Polycystic Ovary Syndrome. *Polycystic Ovary Syndrome ... 57 Studies found for: Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] ... Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome. *Marfan Syndrome ... The concentrations EGF, TGF-β1, TGF-β2 and fibronectin in 20% ASE of SJS patients with dry eye syndrome and of non-autoimmune ...
Treatment responses in five patients with ribbing disease including two with 466C|T missense mutations in TGF?1 - EM|consulte
John Belluso - Wikipedia
Search of: 'Camurati-Engelmann disease' [DISEASE] OR NCT00001754 [ID-NUMBER] AND Melanoma - List Results - ClinicalTrials.gov
The Effects of Vitamin D on Angiogenic Factors in Women With Polycystic Ovary Syndrome. *Polycystic Ovary Syndrome ... Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] AND Melanoma (61 records) ... 61 Studies found for: Camurati-Engelmann disease [DISEASE] OR NCT00001754 [ID-NUMBER] AND Melanoma ... Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan Syndrome. *Marfan Syndrome ...
Transforming Growth Factor beta1 - TGF beta 1 Summary Report | CureHunter
Camurati-Engelmann disease - Wikipedia
... used a wheel chair from the age of 13 because of the Camurati-Engelmann syndrome. He died on February 10, 2006, at the age of ... Camurati-Engelmann disease on Genetic Home Reference GeneReviews/NCBI/NIH/UW entry on Camurati-Engelmann Disease Wallace, ... Camurati‐Engelmann Disease. Acta radiologica, 44(4), 430-434. Mason, J., & Slee, I. (1968). Anaesthesia in Engelmanns disease ... Type 2 Camurati-Engelmann Disease is still speculative, with no distinct evidence to credit its existence. There are many ...
2018 ICD-10-CM Index Terms Starting With 'E'
Engelmann Q78.3. (-Camurati). ICD-10-CM Diagnosis Code Q78.3. Progressive diaphyseal dysplasia. 2016 2017 2018 Billable/ ... Postconcussional syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Postcontusional syndrome (encephalopathy) ... Guillain-Barre syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Acute (post-)infective polyneuritis ... Guillain-Barre syndrome. 2016 2017 2018 Billable/Specific Code Applicable To*Acute (post-)infective polyneuritis ...
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells | JEM
Osteogenesis Imperfecta of the Temporal Bone: CT and MR Imaging in Van der Hoeve-de Kleyn Syndrome | American Journal of...
Camurati-Engelmann disease presenting as "juvenile otosclerosis." Int J Pediatr Otorhinolaryngol 1996;37:129-141. ... Camurati-Engelmann disease, also called progressive diaphyseal dysplasia, is an autosomal dominant disease with variable ... and Camurati-Engelmann disease.. OI and otosclerosis share many similar histologic and radiographic features, and their ... Osteogenesis Imperfecta of the Temporal Bone: CT and MR Imaging in Van der Hoeve-de Kleyn Syndrome. Hatem Alkadhi, Diana ...
Regarding Camurati-Engelmann Disease: In Reply | Clinics in Orthopedic Surgery;: 118-118, 2018. | WPRIM
Full text: Available Index: WPRIM (Western Pacific) Main subject: Camurati-Engelmann Syndrome Language: English Journal: ... Full text: Available Index: WPRIM (Western Pacific) Main subject: Camurati-Engelmann Syndrome Language: English Journal: ... Regarding Camurati-Engelmann Disease: In Reply Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young JANG; Moon-Seok ...
Kenny-Caffey Syndrome | Syndromes: Rapid Recognition and Perioperative Implications | AccessAnesthesiology | McGraw-Hill Medical
Camurati-Engelmann Syndrome: A musculoskeletal syndrome leading to enhanced bone formation, hyperostosis and sclerosis of the ... Kenny Syndrome; Kenny-Linarelli Syndrome; Tubular Stenosis-Hypocalcemia-Convulsions-Dwarfism Syndrome; Tubular Stenosis- ... "Kenny-Caffey Syndrome." Syndromes: Rapid Recognition and Perioperative Implications Bissonnette B, Luginbuehl I, Marciniak B, ... Bruno Bissonnette, et al.eds. Syndromes: Rapid Recognition and Perioperative Implications New York, NY: McGraw-Hill; 2006. http ...
Search | Global Index Medicus
Body Mass Index , Camurati-Engelmann Syndrome , Child , Diagnosis , Diagnosis, Differential , Diaphyses , Emaciation , ... Regarding Camurati-Engelmann Disease: In Reply Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young JANG; Moon-Seok ... Orthopedic Manifestations of Type I Camurati-Engelmann Disease Alisher-J YULDASHEV; Chang-Ho SHIN; Yong-Sung KIM; Woo-Young ... BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation ...
Vision disturbances - RightDiagnosis.com
CAMFAK syndrome ... cataract*Camurati-Engelmann Disease ... cataract*Cardiomyopathy cataract hip spine disease ... cataract* ... Goldstein-Hutt syndrome ... cataract. H. *Hajdu-Cheney Syndrome ... cataract*HARD syndrome ... cataract*HARD syndrome ( ... Spondylo-ocular syndrome ... cataract*Stickler Syndrome ... cataract*Stickler Syndrome, type I ... cataract*Stickler Syndrome, ... Johnson-Hall-Krous syndrome ... cataract*Joubert Syndrome 9 ... cataract. K. *Kahrizi Syndrome ... cataract*Karandikar-Maria- ...
Progress toward discerning the genetics of cleft lip
TGFB1 mutations in humans have been found to cause the Camurati-Engelmann-syndrome , which is a progressive diaphyseal ... Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. Nat Genet. 2000;26:19-20. [PubMed] ... Approximately 20-50% of all orofacial clefts are associated with one of more than 400 described syndromes . These syndromes ... Syndromes of the head and neck. Oxford: Oxford University Press; 2001. 3. Wyszynski DF. Cleft lip and palate: from origin to ...
Mutations in STAT3 and IL12RB1 Impair the Development of Human IL-17-producing T Cells - PubMed
Activating mutations in TGFB1, TGFBR1, and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function ... Defects along the T(H)17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome. Al Khatib S, ... In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, ...
Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease
No patient exhibited acute pain syndrome, hepatosplenomegaly, cranial nerve impairment, mental retardation, or a change to ... Camurati-Engelmann disease (CED, OMIM: 131300), also termed Engelmann disease or progressive diaphyseal dysplasia (PDD), is a ... Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor ... Clinical diagnosis and mutation analysis of a Chinese family with Camurati-Engelmann disease. *Authors: *Yong Chen ...
Scoliosis - RightDiagnosis.com
Camurati-Engelmann Disease ... scoliosis*Cartilage Hair Hypoplasia ... scoliosis*Cartilage-hair hypoplasia-like syndrome ... ... BRESHECK syndrome *Bruck syndrome *CAMFAK syndrome *Ceroid lipofuscinosis, neuronal 3, juvenile *Chromosome 8 trisomy syndrome ... Lujan-Fryns syndrome ... scoliosis. M. *Maffucci Syndrome ... scoliosis*Marden-Walker Syndrome ... scoliosis*Marfan syndrome ... Bartenwerfer syndrome ... scoliosis*Battaglia Neri syndrome ... scoliosis*Bd syndrome ... scoliosis*Becker nevus syndrome ... ...
DeCS 2007 - Changed terms
Osteochondrodysplasias - Dyschondroplasias - information page with HONselect
Camurati-Engelmann Syndrome. Cleidocranial Dysplasia. Ellis-Van Creveld Syndrome. Enchondromatosis. Hyperostosis, Cortical, ... Langer-Giedion Syndrome - Osteochondroma - Osteogenesis Imperfecta - Osteosclerosis - Short Rib-Polydactyly Syndrome - ... Whonamedit - Melnick-Needles syndrome. www.whonamedit.com 4 rare-diseases - National Organization for Rare Disorders. www. ... Narrow term(s): - Achondroplasia - Chondrodysplasia Punctata - Cleidocranial Dysplasia - Ellis-Van Creveld Syndrome - ...
Camurati-Engelmann Syndrome Entry term(s). Camurati Engelmann Disease Camurati Engelmann Syndrome Camurati-Engelmann Disease ... Syndrome de Camurati-Engelmann Entry term(s):. Camurati Engelmann Disease. Camurati Engelmann Syndrome. Camurati-Engelmann ... Camurati-Engelmann Syndrome - Preferred Concept UI. M0006211. Scope note. An autosomal dominant form of dysplasia that is ... Engelmann Disease. Engelmanns Disease. Hyperostoses, Diaphyseal. Hyperostosis, Diaphyseal. Progressive Diaphyseal Dysplasia. ...
Hyperhidrosis - Hands and Feet & Pediatric Disorder: Causes & Reasons - Symptoma
Camurati-Engelmann Syndrome. […] of the hands and feet, delayed dentition, extensive caries, delayed puberty, and hypogonadism ... Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. Nat Genet. 2011;43:303-305. ... Integrated anti-remodeling and anabolic therapy for the osteoporosis of Hajdu-Cheney syndrome. [rarediseases.org] ... Syndrome Crystalline Diseases Osteoarthritis Osteoporosis Systemic Vasculitis Rheumatic Manifestations of Systemic Diseases ...
macrophages; Bone Marrow-Derived Macrophages; Monocyte-Derived Macrophages
Utah Medical Home Portal - Causes of Hearing Loss, with ICD-10 codes
Camurati-Engelmann syndrome. Q89.8. CHARGE association (Coloboma, Heart defect, Atresia choanae, Retarded growth and ... Duane syndrome (found in cervico-oculo-acoustic dysplasia or Wildervanck syndrome and in HOXA-1-related syndromes, including ... Hermann syndrome (multiple synostoses syndrome). Q87.89. LEOPARD syndrome (Lentigines, ECG conduction abnormalities, Ocular ... Autosomal dominant optic atrophy and congenital deafness syndrome. H47.2. Autosomal dominant optic atrophy plus syndrome ( ...
Affected Females Have Been Reported & Fatigue & Intermittent Dysphagia<...
Prader-Willi Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your ... Possible causes include Plummer-Vinson Syndrome, Esophageal Web, ... Camurati-Engelmann Syndrome Early in the third decade of life, ... cancer 32.69 Role limitations due to emotional problems Malattia di Camurati-Engelmann General population 91.77 HIV 60.83 Hip ... Plummer-Vinson Syndrome The clinical features include intermittent dysphagia for solid foods (rarely or never for liquid).[ ...
DysplasiaDiseaseAutosomalMutationsHyperostosis and sclerosisProgressiveAlagille SyndromeHereditaryDiseasesSymptomsBonesHypertrophicTypeClinicalDeficiencyDisorderMarfan SyndromeKallmann SyndromeAbnormalitiesInheritanceRadiographicPatientsCaffeyMetabolicMutationLoeys-Dietz SyWeill-MarchesaAutoimmune Lymphopr
- Ellis-van Creveld syndrome (also called chondroectodermal dysplasia or mesoectodermal dysplasia but see ' Nomenclature ' section below) is a rare genetic disorder of the skeletal dysplasia type. (wikipedia.org)
- Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones. (goodwedding.info)
- Camurati-Englemann disease CED is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. (goodwedding.info)
- Disorders to consider include craniodiaphyseal dysplasia, autosomal dominant Kenny-Caffey syndrome, juvenile Paget disease, Ghosal hematodiaphyseal dysplasia, Worth type autosomal dominant osteosclerosis, sclerosteosis and hyperostosis corticalis generalisata see these terms. (goodwedding.info)
- Camurati-Engelmann disease (CAEND, OMIM 131300) is a rare autosomal dominant, progressive diaphyseal dysplasia, which is characterized by hyperosteosis and sclerosis of the diaphyses of long bones. (bvsalud.org)
- Camurati-Engelmann disease or progressive diaphyseal dysplasia is a rare autosomal dominant sclerosing bone dysplasia. (bvsalud.org)
- When considering a diagnosis of primary hypertrophic osteoarthropathy (primary HOA, pachydermoperiostosis), also take into account congenital syphilis, diaphyseal dysplasia (Camurati-Engelmann disease), infantile cortical hyperostosis , Caffey disease, and hypervitaminosis A. (medscape.com)
- I wanted to say thank you because I also have Camurati Englemann Disease. (lookfordiagnosis.com)
- Camurati-Engelmann disease is a skeletal condition that is characterized by abnormally thick bones (hyperostosis) in the arms, legs, and skull. (medlineplus.gov)
- The thick limb bones can lead to bone pain and muscle weakness in the arms and legs and cause individuals with Camurati-Engelmann disease to tire quickly. (medlineplus.gov)
- In about a quarter of individuals with Camurati-Engelmann disease, the thickened skull increases pressure on the brain or compresses the spinal cord, which can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. (medlineplus.gov)
- The degree of hyperostosis varies among individuals with Camurati-Engelmann disease as does the age at which they experience their first symptoms. (medlineplus.gov)
- The prevalence of Camurati-Engelmann disease is unknown. (medlineplus.gov)
- Mutations in the TGFB1 gene cause Camurati-Engelmann disease. (medlineplus.gov)
- The TGFB1 gene mutations that cause Camurati-Engelmann disease result in the production of an overly active TGFβ-1 protein. (medlineplus.gov)
- As a result, the bones in the arms, legs, and skull are thicker than normal, contributing to the movement and neurological problems often experienced by individuals with Camurati-Engelmann disease. (medlineplus.gov)
- Some individuals with Camurati-Engelmann disease do not have an identified mutation in the TGFB1 gene. (medlineplus.gov)
- Skull base manifestations of Camurati-Engelmann disease. (medlineplus.gov)
- Ellis-van Creveld syndrome is one such disease, part of an emerging class of diseases called ciliopathies . (wikipedia.org)
- Known ciliopathies include primary ciliary dyskinesia , Bardet-Biedl syndrome , polycystic kidney and liver disease , nephronophthisis , Alström syndrome , Meckel-Gruber syndrome and some forms of retinal degeneration . (wikipedia.org)
- For the rare genetic skeletal disorder sometimes called Engelmann syndrome, see Camurati-Engelmann disease . (wikipedia.org)
- Camurati-Engelmann disease (CED) is a very rare autosomal dominant genetic disorder that causes characteristic anomalies in the skeleton. (wikipedia.org)
- Camurati-Engelmann disease is caused by autosomal dominant mutations in the gene TGFB1, localized at chromosome 19q13. (wikipedia.org)
- There are two forms: Type 1 is associated with TGFB1 Type 2 is not associated with TGFB1 Type 1 Camurati-Engelmann Disease is associated with an error occurring in the TGFB1 protein. (wikipedia.org)
- Born in Warwick, Rhode Island, he began using a wheelchair at the age of 13 due to a bone disease, Camurati-Engelmann syndrome. (wikipedia.org)
- Activating mutations in TGFB1 , TGFBR1 , and TGFBR2 (Camurati-Engelmann disease and Marfan-like syndromes) and loss-of-function mutations in IRAK4 and MYD88 (Mendelian predisposition to pyogenic bacterial infections) had no detectable impact. (rupress.org)
- The differential diagnosis of osteogenesis imperfecta tarda affecting the temporal bone includes otosclerosis, Paget disease, otosyphilis, and Camurati-Engelmann disease. (ajnr.org)
- Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. (bvsalud.org)
- Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). (spandidos-publications.com)
- Pedigree of Chinese family with Camurati-Engelmann disease. (spandidos-publications.com)
- Similarly, skeletal muscle weakness, increased Nox4 binding to RyR1 and oxidation of RyR1 were present in a mouse model of Camurati-Engelmann disease, a nonmalignant metabolic bone disorder associated with increased TGF-β activity. (nih.gov)
- A number sign (#) is used with this entry because of evidence that Camurati- Engelmann disease results from domain-specific heterozygous mutations in the. (goodwedding.info)
- Camurati-Engelmann disease has characteristic clinical and radiological findings, reducing the need for extensive differential diagnosis. (goodwedding.info)
- Camurati-Engelmann disease is a genetic condition that mainly affects the bones. (cdc.gov)
- Camurati-Engelmann disease is caused by a mutation in the TGFB1 gene and inheritance is autosomal dominant . (cdc.gov)
-   In some cases, people have the gene mutation that causes Camurati-Engelmann disease but they never develop symptoms. (cdc.gov)
- These cases are referred to as Camurati-Engelmann disease type 2. (cdc.gov)
- Treatment for Camurati-Engelman disease depends on many factors including the signs and symptoms present in each person and the severity of the condition. (cdc.gov)
- People with Camurati-Engelmann disease have increased bone density, particularly affecting the long bones of the arms and legs (tibia, femur, humerus, ulna, radius). (cdc.gov)
- Camurati-Engelmann disease (CED) is a rare autosomal dominant disease with various phenotypic expressions. (bvsalud.org)
- Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor ß1 (TGFß1). (bvsalud.org)
- Development of disseminated histiocytic sarcoma in a patient with autoimmune lymphoproliferative syndrome and associated Rosai-Dorfman disease. (uchicago.edu)
- Camurati-Engelmann disease (CED) is a genetic bone-modeling disorder mainly caused by mutations in the gene that encodes transforming growth factor-ß1 (TGF-ß1). (bvsalud.org)
- Angioid streaks in a case of Camurati-Engelmann disease. (bezmialem.edu.tr)
- In contrast, dominant-negative mutations in STAT3 (autosomal-dominant hyperimmunoglobulin E syndrome) and, to a lesser extent, null mutations in IL12B and IL12RB1 (Mendelian susceptibility to mycobacterial diseases) impaired the development of IL-17-producing T cells. (rupress.org)
- A syndrome inherited as an autosomal recessive trait and incompatible with life. (uams.edu)
- Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. (sickkids.ca)
- Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. (elsevier.com)
- MASS (mitral valve prolapse, aortic enlargement, skin and skeletal findings) syndrome is a genetic disorder of connective tissue caused by mutations in the FBN1 gene. (diseaseinfosearch.org)
- Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2). (childrensmercy.org)
- Loss of function mutations of the LEMD3 (MAN1) gene were shown to underlie disorders characterized by increased bone density, namely osteopoikilosis, Buschke-Ollendorff syndrome (BOS), and melorheostosis (9,10). (thefreedictionary.com)
Hyperostosis and sclerosis1
- A musculoskeletal syndrome leading to enhanced bone formation, hyperostosis and sclerosis of the diaphyses of the long bones. (mhmedical.com)
- The triad of fragile bone, blue sclerae, and progressive hearing impairment was first described by van der Hoeve and de Kleyn in 1917 ( 5 ) and was thus named Van der Hoeve-de Kleyn syndrome. (ajnr.org)
- Symptoms include mitral valve prolapse, nearsightedness, borderline and non-progressive aortic enlargement, and skin and skeletal findings that overlap with those seen in Marfan syndrome. (diseaseinfosearch.org)
- Alagille Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (childrensmercy.org)
- This graph shows the total number of publications written about "Alagille Syndrome" by people in this website by year, and whether "Alagille Syndrome" was a major or minor topic of these publications. (childrensmercy.org)
- Below are the most recent publications written about "Alagille Syndrome" by people in Profiles. (childrensmercy.org)
- The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE). (umassmed.edu)
- Until recently, the medical literature did not indicate a connection among many genetic disorders , both genetic syndromes and genetic diseases , that are now being found to be related. (wikipedia.org)
- The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. (wikipedia.org)
- Page kidney, on the other hand, is a condi- 5 Aortic diseases: coarctation of the aorta and midaortic tion where the kidney is compressed from an adjacent syndrome. (aids.org)
- The following text lists signs and symptoms of Angelman syndrome and their relative frequency in affected individuals. (wikipedia.org)
- Camurato-engelmann radiographic hallmark of the disorder is bilateral, sometimes symmetrical, periosteal and endosteal bony sclerosis of the diaphyses of long bones resulting in cortical thickening. (goodwedding.info)
- Hypertrophic osteoarthropathy (HOA) is a clinical syndrome of clubbing of the fingers and toes, enlargement of the extremities, and painful, swollen joints. (medscape.com)
- Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. (storysteel.gq)
- We describe serial CT and MR imaging findings of the temporal bone in a patient with genetically proved Van der Hoeve-de Kleyn syndrome and discuss the key distinguishing features in the radiologic and clinical differential diagnosis. (ajnr.org)
- The clinical diagnosis of Kabuki syndrome was made during follow-up after hip dislocation treatment and confirmed by mutational analysis at a mean age of 4.7 years. (bvsalud.org)
- Finding the right clinical trial for MASS syndrome can be challenging. (diseaseinfosearch.org)
- Executive function impairments in fibromyalgia syndrome: Relevance of clinical variables and body mass index. (diseaseinfosearch.org)
- Chung BH, Bradley T, Grosse-Wortmann L, Blaser S, Dirks P, Hinek A, Chitayat D. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz syndrome--expanding the clinical spectrum. (sickkids.ca)
- Angelman syndrome or Angelman's syndrome   ( AS ) is a genetic disorder that mainly affects the nervous system . (wikipedia.org)
- Polycystic ovary syndrome (PCOS) is a complex endocrine and metabolic disorder, and it's diagnosis is difficult. (diseaseinfosearch.org)
- CHILD syndrome, a rare genetic disorder that is apparent at birth congenitalis characterized by distinctive skin abnormalities and limb defects affecting one side of the body hemidysplasia. (webdesignpro09.info)
- The disorder is caused by deletions or chromosomal rearrangements translocations involving the end of the short arm p of chromosome X Xp A higher ratio of uhnermann to males XXY male with X-linked dominant chondrodysplasia punctata Happle syndrome. (webdesignpro09.info)
- Karur GR, Pagano JJ, Bradley T, Lam CZ, Seed M, Yoo SJ, Grosse-Wortmann L. Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome. (sickkids.ca)
- Kallmann Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
- This graph shows the total number of publications written about "Kallmann Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Kallmann Syndrome" was a major or minor topic of these publication. (harvard.edu)
- Below are the most recent publications written about "Kallmann Syndrome" by people in Profiles. (harvard.edu)
- Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. (harvard.edu)
- Expanding the phenotypic spectrum and variability of endocrine abnormalities associated with TUBB3 E410K syndrome. (harvard.edu)
- These syndromes often have simple Mendelian inheritance patterns and are thus amenable to gene identification. (pubmedcentralcanada.ca)
- Skull, spine and pelvic camurati-engelkann may be found on radiographic examination. (goodwedding.info)
- The imaging findings of the temporal bone on CT in patients with Van der Hoeve-De Kleyn syndrome have been only rarely described ( 4 , 6 - 10 ), and the MR imaging findings have been sporadically reported by only three authors ( 10 - 12 ). (ajnr.org)
- We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. (bvsalud.org)
- METHODS: Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. (bvsalud.org)
- The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. (bvsalud.org)
- None of the patients were diagnosed as having Kabuki syndrome at that time. (bvsalud.org)
- Patients generally present with pain in the camurahi-engelmann, waddling gait, easy fatigability, and muscle weakness. (goodwedding.info)
- Ophthalmic findings in patients with arterial tortuosity syndrome and carriers: A case series. (uams.edu)
- Abdel-Al Y, Auger T, El-Gharbawy F: Kenny-Caffey syndrome: Case report and literature review. (mhmedical.com)
- Tri-Ponderal Mass Index vs. Fat Mass/Height³ as a Screening Tool for Metabolic Syndrome Prediction in Colombian Children and Young People. (diseaseinfosearch.org)
- Association of hs-CRP with various components of metabolic syndrome. (mesams.com)
- A Comparative Study on Plasma Fibrinogen and hs-CRP in Metabolic Syndrome. (mesams.com)
- Ellis-van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2 , located close to the EVC gene in a head-to-head configuration. (wikipedia.org)
- Weyers acrofacial dysostosis is due to another mutation in the EVC gene and hence is allelic with Ellis-van Creveld syndrome. (wikipedia.org)
-  Angelman syndrome is typically due to a new mutation rather than one inherited from a person's parents. (wikipedia.org)
- Loeys-Dietz syndrome: a primer for diagnosis and management. (sickkids.ca)
- Unexpected contained rupture of a ductus arteriosus aneurysm found at surgical repair in an infant with Loeys-Dietz syndrome. (sickkids.ca)
- Barnett CP, Chitayat D, Bradley TJ, Wang Y, Hinek A. Dexamethasone normalizes aberrant elastic fiber production and collagen 1 secretion by Loeys-Dietz syndrome fibroblasts: a possible treatment? (sickkids.ca)
- Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome. (harvard.edu)
- Autoimmune Lymphoproliferative Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (uchicago.edu)
- Below are the most recent publications written about "Autoimmune Lymphoproliferative Syndrome" by people in Profiles. (uchicago.edu)