A family of membrane-anchored glycoproteins that contain a disintegrin and metalloprotease domain. They are responsible for the proteolytic cleavage of many transmembrane proteins and the release of their extracellular domain.
A characteristic symptom complex.
A plant genus of the family Anacardiaceae, order Sapindales, subclass Rosidae. It is a source of gallotannin (TANNIC ACID) and of somewhat edible fruit. Do not confuse with TOXICODENDRON which used to be part of this genus.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
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.
The sum of the weight of all the atoms in a molecule.
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 family of polypeptides purified from snake venoms, which contain the arginine-glycine-aspartic acid (RGD) sequence. The RGD tripeptide binds to integrin receptors and thus competitively inhibits normal integrin-ligand interactions. Disintegrins thus block adhesive functions and act as platelet aggregation inhibitors.
Chromatography on non-ionic gels without regard to the mechanism of solute discrimination.
Endopeptidases that are specific for AMYLOID PROTEIN PRECURSOR. Three secretase subtypes referred to as alpha, beta, and gamma have been identified based upon the region of amyloid protein precursor they cleave.
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.
Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
The physical phenomena describing the structure and properties of atoms and molecules, and their reaction and interaction processes.
The study of CHEMICAL PHENOMENA and processes in terms of the underlying PHYSICAL PHENOMENA and processes.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
ENDOPEPTIDASES which use a metal such as ZINC in the catalytic mechanism.
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.
Separation of particles according to density by employing a gradient of varying densities. At equilibrium each particle settles in the gradient at a point equal to its density. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
A chromatographic technique that utilizes the ability of biological molecules to bind to certain ligands specifically and reversibly. It is used in protein biochemistry. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
The rate dynamics in chemical or physical systems.
The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).
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 resistance that a gaseous or liquid system offers to flow when it is subjected to shear stress. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Compounds and molecular complexes that consist of very large numbers of atoms and are generally over 500 kDa in size. In biological systems macromolecular substances usually can be visualized using ELECTRON MICROSCOPY and are distinguished from ORGANELLES by the lack of a membrane structure.
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
The ability of a substance to be dissolved, i.e. to form a solution with another substance. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
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 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.
Centrifugation with a centrifuge that develops centrifugal fields of more than 100,000 times gravity. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
A metallic element with the atomic symbol Mo, atomic number 42, and atomic weight 95.94. It is an essential trace element, being a component of the enzymes xanthine oxidase, aldehyde oxidase, and nitrate reductase. (From Dorland, 27th ed)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
Measurement of the intensity and quality of fluorescence.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
Organic compounds that generally contain an amino (-NH2) and a carboxyl (-COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins.
Proteases which use a metal, normally ZINC, in the catalytic mechanism. This group of enzymes is inactivated by metal CHELATORS.
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)
Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.
Separation technique in which the stationary phase consists of ion exchange resins. The resins contain loosely held small ions that easily exchange places with other small ions of like charge present in solutions washed over the resins.
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A naphthalene derivative with carcinogenic action.
Elements of limited time intervals, contributing to particular results or situations.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
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.
Techniques used to separate mixtures of substances based on differences in the relative affinities of the substances for mobile and stationary phases. A mobile phase (fluid or gas) passes through a column containing a stationary phase of porous solid or liquid coated on a solid support. Usage is both analytical for small amounts and preparative for bulk amounts.
Intracellular fluid from the cytoplasm after removal of ORGANELLES and other insoluble cytoplasmic components.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A change from planar to elliptic polarization when an initially plane-polarized light wave traverses an optically active medium. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
The motion of fluids, especially noncompressible liquids, under the influence of internal and external forces.
Nonionic surfactant mixtures varying in the number of repeating ethoxy (oxy-1,2-ethanediyl) groups. They are used as detergents, emulsifiers, wetting agents, defoaming agents, etc. Octoxynol-9, the compound with 9 repeating ethoxy groups, is a spermatocide.
A class of ciliate protozoa. Characteristics include the presence of a well developed oral apparatus and oral cilia being clearly distinct from somatic cilia.
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.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Purifying or cleansing agents, usually salts of long-chain aliphatic bases or acids, that exert cleansing (oil-dissolving) and antimicrobial effects through a surface action that depends on possessing both hydrophilic and hydrophobic properties.
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).
Established cell cultures that have the potential to propagate indefinitely.
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
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.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
The pH in solutions of proteins and related compounds at which the dipolar ions are at a maximum.
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 large lobed glandular organ in the abdomen of vertebrates that is responsible for detoxification, metabolism, synthesis and storage of various substances.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
A characteristic feature of enzyme activity in relation to the kind of substrate on which the enzyme or catalytic molecule reacts.
The normality of a solution with respect to HYDROGEN ions; H+. It is related to acidity measurements in most cases by pH = log 1/2[1/(H+)], where (H+) is the hydrogen ion concentration in gram equivalents per liter of solution. (McGraw-Hill Dictionary of Scientific and Technical Terms, 6th ed)
A type of ion exchange chromatography using diethylaminoethyl cellulose (DEAE-CELLULOSE) as a positively charged resin. (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Proteins found usually in the cytoplasm or nucleus that specifically bind steroid hormones and trigger changes influencing the behavior of cells. The steroid receptor-steroid hormone complex regulates the transcription of specific genes.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Agents that emit light after excitation by light. The wave length of the emitted light is usually longer than that of the incident light. Fluorochromes are substances that cause fluorescence in other substances, i.e., dyes used to mark or label other compounds with fluorescent tags.
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
The lipid- and protein-containing, selectively permeable membrane that surrounds the cytoplasm in prokaryotic and eukaryotic cells.
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.
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.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Biochemical identification of mutational changes in a nucleotide sequence.
Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
Transport proteins that carry specific substances in the blood or across cell membranes.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
An esterified form of TRIAMCINOLONE. It is an anti-inflammatory glucocorticoid used topically in the treatment of various skin disorders. Intralesional, intramuscular, and intra-articular injections are also administered under certain conditions.
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Polymers of ETHYLENE OXIDE and water, and their ethers. They vary in consistency from liquid to solid depending on the molecular weight indicated by a number following the name. They are used as SURFACTANTS, dispersing agents, solvents, ointment and suppository bases, vehicles, and tablet excipients. Some specific groups are NONOXYNOLS, OCTOXYNOLS, and POLOXAMERS.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
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.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis.
Strains of mice in which certain GENES of their GENOMES have been disrupted, or "knocked-out". To produce knockouts, using RECOMBINANT DNA technology, the normal DNA sequence of the gene being studied is altered to prevent synthesis of a normal gene product. Cloned cells in which this DNA alteration is successful are then injected into mouse EMBRYOS to produce chimeric mice. The chimeric mice are then bred to yield a strain in which all the cells of the mouse contain the disrupted gene. Knockout mice are used as EXPERIMENTAL ANIMAL MODELS for diseases (DISEASE MODELS, ANIMAL) and to clarify the functions of the genes.
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.
Cytoplasmic proteins that specifically bind glucocorticoids and mediate their cellular effects. The glucocorticoid receptor-glucocorticoid complex acts in the nucleus to induce transcription of DNA. Glucocorticoids were named for their actions on blood glucose concentration, but they have equally important effects on protein and fat metabolism. Cortisol is the most important example.
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
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.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
Cytoplasmic proteins that bind estradiol, migrate to the nucleus, and regulate DNA transcription.
A serotonin antagonist with limited antihistaminic, anticholinergic, and immunosuppressive activity.
The parts of a macromolecule that directly participate in its specific combination with another molecule.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Any of various animals that constitute the family Suidae and comprise stout-bodied, short-legged omnivorous mammals with thick skin, usually covered with coarse bristles, a rather long mobile snout, and small tail. Included are the genera Babyrousa, Phacochoerus (wart hogs), and Sus, the latter containing the domestic pig (see SUS SCROFA).
Theoretical representations that simulate the behavior or activity of biological processes or diseases. For disease models in living animals, DISEASE MODELS, ANIMAL is available. Biological models include the use of mathematical equations, computers, and other electronic equipment.
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.
Monomeric subunits of primarily globular ACTIN and found in the cytoplasmic matrix of almost all cells. They are often associated with microtubules and may play a role in cytoskeletal function and/or mediate movement of the cell or the organelles within the cell.
Proteins prepared by recombinant DNA technology.
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.
Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A basic science concerned with the composition, structure, and properties of matter; and the reactions that occur between substances and the associated energy exchange.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.
The composition, conformation, and properties of atoms and molecules, and their reaction and interaction processes.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.

Sinoatrial block. Autonomic influences and clinical assessment. (1/27)

Seventeen patient with sinoatrial block and 16 healthy volunteers were investigated with recently developed autonomic tests of atrial pacemaker function. Only one patients was found to be entirely normal in comparison with normal subjects, while another patients had supernormal responses. Fifteen patients had reduced responses relative to the controls implying impaired atrial pacemaker function or sinoatrial disease. It is suggested that while in some cases sinoatrial block may be of physiological origin, it is more often due to sinoatrial disease. The latter group are liable to Adams-Stokes syncope and may have additional atricventricular conduction abnormalities. The possible mechanisms and treatment of sinoatrial block are discussed relative to the autonomic and pacemaker function abnormalities described.  (+info)

Electron microscopical study of myocardial biopsy material in congenital heart block. (2/27)

Myocardial tissue from the left ventricle of two children with congenital atrioventricular block and recurrent Admas-Stokes attacks was obtained during the procedure of epicardial pacemaker implantation and studied with the electron microscope. One patient had a familial cardiomyopathy, the other had no clinical abnormality apart from the conduction defect. Proliferation of mitochondria was common in both cases. Focal interstitial fibrosis and pronounced proliferation of transverse tubules were found in the myocardial cells of the patient with familial cardiomyopathy. Deep invaginations of the sarcolemmma with formation of intracytoplasmic channels were present in the second case. The possibility that the numerous transverse tubules could serve as additional pathways for impulse conduction is discussed.  (+info)

Advanced heart block aggravated by carbamazepine. (3/27)

This report presents a serious adverse reaction to the anticonvulsant compound carbamazepine. A woman was admitted to hospital for recurrent attacks of syncope. She suffered from atrioventricular block of the Mobitz type II. Carbamazepine suppressed the conduction in her already defective Purkinje fibres and induced ventricular stand-still with subsequent Adams-Stokes attacks.  (+info)

Complete heart block. Studies of atrial and ventricular pacemaker site and function. (4/27)

Atrial and ventricular pacemaker function was studied in 20 patients with idiopathic chronic complete heart block using the rate response to an intravenous bolus dose of isoprenaline (5 mug/70 kg bodyweight). Pacemaker responses were compared with those of 16 normal control subjects. None of the patients was having syncopal attacks at the time of admission and they were therefore selected in that none required immediate pacing. Ten of the patients had His bundle electrograms; all were shown to have a pre-His type of atrioventricular block. Two major groups emerge from the responses to isoprenaline. (a) High risk group: 11 of the 14 patients with reduced ventricular pacemaker responses had frequent syncopal attacks; 8 of the patients with Adams-Stokes syncope had a bundle-branch block pattern, while 3 had a narrow QRS. These patients require pacing. (b) Low risk group: a low risk asymptomatic group (5 patients) was identified with atrial and ventricular responses to isoprenaline within normal range. One of these patients had a bundle-branch block pattern, while 4 had a narrow QRS. These patients might be managed without pacing. The atrial response to isoprenaline was reduced in 12 of the 20 cases, 10 of whom also had reduced ventricular responses. All 9 patients with bundle-branch block had reduced ventricular responses, while 7 had reduced atrial responses. This evidence indicates that cardiac conducting tissue pathophysiology is widespread in complete heart bolck. The present work suggests that consideration of the ventricular pacemaker function is important in assessing liability to syncope in complete heart block. While patients with Adams-Stokes attacks require pacing it is suggested that all asymptomatic patients with complete heart block and those with minor symptoms are assessed using studies of both ventricular pacemaker function and site. A low risk group not requiring a pacemaker may emerge after sufficient follow-up assessment.  (+info)

Complete heart block and systemic lupus erythematosus. (5/27)

An 18-year-old girl with systemic lupus erythematosus developed progressive electrocardiographic abnormalities over a period of 16 years, culminating in complete heart block with Adams-Stokes attacks. A permanent ventricular pacing system was implanted successfully.  (+info)

Delay and block of cardiac impulse caused by enhanced phase-4 depolarization in the His-Purkinje system. (6/27)

The underlying mechanism of bradycardia-dependent bundle-branch and paroxysmal atrioventricular block appears to be enhancement of phase-4 depolarization in a branch or in a natural or acquired monofascicular pathway. Clinical records of these forms of impaired conduction occurring in the bundle-branches, with either longer or shorter cardiac cycle lengths, are presented and analysed. These also include the combination of Mobitz typw I atrioventricular block with variable degrees of bundle-branch block, as a representative example of narrow ventricular escape beats firing in the zone where prominent diastolic depolarization is present.  (+info)


The transistorized implanted pacemaker is proving to be an effective and reliable method for long-term pacing of the heart. All patients suffering from Stokes-Adams seizures were first given a trial period of conservative therapy, including isoproterenol (Isuprel), ephedrine, atropine and steroids. Twenty-four pacemaker implants were performed on 23 patients over a 21-month period. The preoperative insertion of a pacemaker cardiac catheter was a very valuable safety precaution. In this way the heart could be safely and reliably paced during the period of preoperative assessment and during the critical periods of anesthetic induction and thoracotomy. Infection did not occur, probably because of careful gas sterilization of the units. Various models of pacemakers are compared, and the reasons for two pacemaker failures are presented. There were two early deaths and one late death in the series. The relationship of progressive coronary disease to recent infarction is stressed. Patients having intermittent heart block frequently showed the picture of "competing pacemakers" postoperatively, but without deleterious effect. Twenty patients, between 54 and 88 years of age, are alive and well at the time of reporting, with excellent pacemaker response and no further Stokes-Adams attacks.  (+info)


FOR PURPOSES OF CORRECT TREATMENT IT IS IMPORTANT TO RECOGNIZE THAT PATIENTS WITH COMPLETE ATRIOVENTRICULAR DISSOCIATION FALL INTO THREE GROUPS: Group I-established third-degree heart block with and without Stokes-Adams attacks; Group II-periodic third-degree heart block with and without Stokes-Adams attacks; Group III-established third-degree heart block with cardiac failure. Most patients in Group I present no technical problems when a pacemaker is implanted. In Group II it is advisable to insert a temporary intracardiac catheter electrode and maintain a rate of 60 to 64 during the periods of third-degree heart block. Sudden reversion, in this group, from sinus rhythm can be fatal. Group III patients will often require a pacemaker set in excess of 74 beats until they are free of cardiac failure. Fifteen of 20 patients with complete atrioventricular dissociation showed marked functional improvement after insertion of a pacemaker. The development, in our laboratory, of a 4'' portable pacemaker impulse detector has been invaluable in locating the cause of failure in an implanted pacemaker.  (+info)

Typically an attack occurs without warning, leading to sudden loss of consciousness.[4] Prior to an attack, a patient may be pale with hypoperfusion. Abnormal movements may be present, typically consisting of twitching after 15-20 seconds of unconsciousness. (These movements, which are not seizures, occur because of brainstem hypoxia and not due to cortical discharge as is the case for epileptiform seizures). Breathing typically continues normally throughout the attack, and, upon recovery, the patient becomes flushed as the heart rapidly pumps the oxygenated blood from the pulmonary beds into the systemic circulation, which has become dilated due to hypoxia.[5] As with any syncopal episode that results from a cardiac dysrhythmia, the fainting does not depend on the patients position. If it occurs during sleep, the presenting symptom may simply be feeling hot and flushed on waking.[5][6] ...
Adams-Stokes Syndrome: A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent.
Stokes-Adams attack | Pacemaker implantation. Cardiology: Treatment in Aachen, Germany ✈. Prices on BookingHealth.com - booking treatment online!
Pacemaker implantation to treat of Stokes-Adams attack (costs for program #255273) ✔ University Hospital Erlangen ✔ Department of Сardiac Surgery ✔ BookingHealth.com
Pacemaker therapy has developed into one of the most successful treatment methods in the field of cardiology. Initially implanted mainly to prevent Adams-Stokes attacks and to decrease the mortality...
Synonyms for atrioventricular block in Free Thesaurus. Antonyms for atrioventricular block. 3 synonyms for atrioventricular block: Adams-Stokes syndrome, heart block, Stokes-Adams syndrome. What are synonyms for atrioventricular block?
Rx Only. Brief Summary: Prior to using these devices, please review the Instructions for Use for a complete listing of indications, contraindications, warnings, precautions, potential adverse events and directions for use. Devices depicted may not be available in all countries. Check with your St. Jude Medical representative for product availability in your country.. Indications: Implantation is indicated in one or more of the following permanent conditions: syncope, presyncope, fatigue, disorientation due to arrhythmia/bradycardia or any combination of those symptoms. Rate-Modulated Pacing is indicated for patients with chronotropic incompetence, and for those who would benefit from increased stimulation rates concurrent with physical activity. Dual-Chamber Pacing is indicated for those patients exhibiting: sick sinus syndrome, chronic, symptomatic second- and third-degree AV block, recurrent Adams-Stokes syndrome, symptomatic bilateral bundle branch block when tachyarrhythmia and other causes ...
[110 Pages Report] Check for Discount on Global Artificial Cardiac Valves Sales Market Report 2017 report by QYResearch Group. In this report, the global Artificial Cardiac Valves market is...
Levs disease (or Lenegre-Lev syndrome) is an acquired complete heart block due to idiopathic fibrosis and calcification of the electrical conduction system of the heart. Levs disease is most commonly seen in the elderly, and is often described as senile degeneration of the conduction system. One form has been associated with SCN5A. It was described independently by Maurice Lev and Jean Lenègre in 1964, but the condition is generally called after Lev. Stokes-Adams attacks can be precipitated by this condition. These involve a temporary loss of consciousness resulting from marked slowing of the heart when the atrial impulse is no longer conducted to the ventricles. This should not be confused with the catastrophic loss of heartbeat seen with ventricular fibrillation or asystole. Schott JJ, Alshinawi C, Kyndt F, et al. (1999). Cardiac conduction defects associate with mutations in SCN5A. Nat. Genet. 23 (1): 20-1. doi:10.1038/12618. PMID 10471492. Lev M. Anatomic basis for atrioventricular ...
As the conduction delay time can be adjusted by the heart rate in DDD-type cardiac pacing, due to the recent technological development of the pacemaker system, the co-relationship between cardiac output and AV conduction delay time is being actively studied. Up to now, in order to determine the most proper AV conduction delay time, according to heart rate in the application of the artificial cardiac pacemaker, studies have been conducted using such means as systolic time interval4,5), echocardiogram6), Doppler echocardiogram7,8), radionuclide ventriculogram9) and hemodynamic study10,11).. The programmable dual chamber cardiac pacemaker can sense and pace both the atrium and ventricle by controlling the AV conduction delay time in many ways. The artioventricular synchrony aims that the atrium can play an assistant role for the cardiac output by contracting atrium and ventricle at proper intervals and therefore, the cardiac output can be improved if the synchrony has been adequately adjusted in ...
Lithium cells, if ingested, are highly dangerous. In the pediatric population, of particular concern is the potential for one of these batteries to get stuck in the oesophagus.[11][12] Such impactions can rapidly devolve and cause severe tissue injury in as little as two hours.[12][17][18] The damage is not caused by the contents of the battery, but by the electric current that is created when the anode (negative) face of the battery comes in contact with the electrolyte-rich esophageal tissue. The surrounding water undergoes a hydrolysis reaction that produces a sodium hydroxide (caustic soda) build-up near the batterys anode face (cathodic reaction in the electrolyte). This results in the liquefactive necrosis of the tissue, a process whereby the tissue effectively is melted away by the alkaline solution.[17] Severe complications can occur, such as erosion into nearby structures like the trachea or major blood vessels, the latter of which can cause fatal bleeds. While the only cure for an ...
This report studies Artificial Cardiac Valves in Global market, especially in North America, China, Europe, Southeast Asia, Japan and India, with production, revenue, consumption, import and export in these regions,
Epinephrine is indicated for intravenous injection in treatment of acute hypersensitivity, treatment of acute asthmatic attacks to relieve bronchospasm, and treatment and prophylaxis of cardiac arrest and attacks of transitory atrioventricular heart block with syncopal seizures (Stokes-Adams Syndrome). The actions of epinephrine resemble the effects of stimulation of adrenergic nerves. To a variable degree it acts on both alpha and beta receptor sites of sympathetic effector cells. Its most prominent actions are on the beta receptors of the heart, vascular and other smooth muscle. When given by rapid intravenous injection, it produces a rapid rise in blood pressure, mainly systolic, by (1) direct stimulation of cardiac muscle which increases the strength of ventricular contraction, (2) increasing the heart rate and (3) constriction of the arterioles in the skin, mucosa and splanchnic areas of the circulation. When given by slow intravenous injection, epinephrine usually produces only a moderate ...
Epinephrine is indicated for intravenous injection in treatment of acute hypersensitivity, treatment of acute asthmatic attacks to relieve bronchospasm, and treatment and prophylaxis of cardiac arrest and attacks of transitory atrioventricular heart block with syncopal seizures (Stokes-Adams Syndrome). The actions of epinephrine resemble the effects of stimulation of adrenergic nerves. To a variable degree it acts on both alpha and beta receptor sites of sympathetic effector cells. Its most prominent actions are on the beta receptors of the heart, vascular and other smooth muscle. When given by rapid intravenous injection, it produces a rapid rise in blood pressure, mainly systolic, by (1) direct stimulation of cardiac muscle which increases the strength of ventricular contraction, (2) increasing the heart rate and (3) constriction of the arterioles in the skin, mucosa and splanchnic areas of the circulation. When given by slow intravenous injection, epinephrine usually produces only a moderate ...
Looking for online definition of artificial cardiac valve in the Medical Dictionary? artificial cardiac valve explanation free. What is artificial cardiac valve? Meaning of artificial cardiac valve medical term. What does artificial cardiac valve mean?
A device designed to stimulate, by electric impulses, contraction of the Heart Muscles. It may be temporary (external) or permanent (internal or internal-external ...
Permanent artificial pacemaking has been undertaken in 13 patients with complete heart block for repeated Stokes-Adams attacks or intractable cardiac failure.
Artificial cardiac pacemakers are most commonly used in the management of symptomatic bradycardias. These pacemakers provide electrical stimuli to the atria or ventricles or both at a desired rate to cause them to contract regularly at that rate. On the electrocardiogram, these electrical impulses are seen as pacemaker spikes identified by their abrupt vertical spike (arrows below), preceding the atrial or ventricular complex, depending on which chambers the pacemaker is responsible for. In this example, a pacemaker has been inserted which is responsible for providing a regular ventricular rhythm (wide, bizarre QRS complex - circled below). No atrial contractions are present. ...
Is Sinoatrial Block a common side effect of Tildiem? View Sinoatrial Block Tildiem side effect risks. Female, 63 years of age, weighting 112.4 lb, was diagnosed with hypertension, glaucoma and took Tildiem (df). Patient was hospitalized.
Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder, similar to type I progressive familial heart block (PFHB1; see 113900). The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes (Brink and Torrington, 1977). (140400) ...
You are asked to see a patient with a pulse rate of 45 /mt . Is it sinus bradycardia or complete heart block ? Only one condition , . . . you must conclude in the bed side ! Heart rate may give a clue ( HR of 30-40 is common in CHB . Less…
what is complete heart block? Answered by Dr. Bennett Werner: See below: Electrical impulses which originate in the upper chambers (...
This online course enables the bedside professional to perform an interpretation of a 12-lead ECG and apply it to the clinical setting. Recognition of normal waves and a quick and dirty way to determine axis is presented. Bundle branch block patterns and hemiblocks are reviewed using 12-lead tracings. Recognition of ischemia, injury and infarction is accomplished using a pathophysiologic approach to enhance understanding of the mechanism of the condition and then correlate it to the changes seen on the 12-lead. Chamber hypertrophy, electrolyte imbalances, and drug effects are also reviewed using patient assessment parameters and changes seen in the electrical system of the heart. We award 6.75 CE credits for this online course.. ...
Downloadable (with restrictions)! Can the presence of nontraded consumption goods explain the high degree of home bias displayed by investor portfolios? We find that the answer is no, so long as individuals have access to free international trade in financial assets. In particular, it is never optimal to exhibit home bias with respect to domestic traded-good equities. By contrast, an optimal portfolio may exhibit substantial home bias with respect to nontraded-good equities, although this result requires a very low degree of substitution between traded and nontraded goods in the utility function. Further, our analysis uncovers a second puzzle: the composition of investors portfolios appears to be strongly at variance with the predictions of the model that incorporates nontraded goods.(This abstract was borrowed from another version of this item.)
Transient complete heart block - What is complete heart block? Heart block. Third-degree atrioventricular block or complete heart block, is a disorder of the cardiac conduction system where there is no conduction through the atrioventricular node. Therefore, complete dissociation of the atrial and ventricular activity exists. It results from various pathologic states causing infiltration, fibrosis, or loss of connection in portions of the healthy conduction system.
At a quick glance, you will immediately notice that there seemed to be no association between the P and QRS. So, you will jump into the conclusion that this is complete heart block (CHB) or third degree AV block. However, for CHB the RR interval MUST BE REGULAR. It is because supraventricular impulses are blocked and the ventricles are depolarized by either a junctional or ventricular pacemaker and they generate a regular RR to interval. In the case presented, the RR interval is irregular. Thus, we can conclude that SOME OF THE IMPULSES were able to conduct to ventricles. R3 and R6 are captured beats or sinus beats that were conducted to the ventricles (PRI of about 0.40 sec). Hence, this is not complete heart block. This is called HIGH-GRADE or ADVANCED SECOND-DEGREE AV BLOCK. ...
A family is reported in which two siblings had congenital complete heart block with resultant congestive heart failure, the father and paternal grandfather show adult-onset conduction defects, and the mother has systemic lupus erythematosis. The interaction of heredity and environment is discussed in this context. A review of the literature on familial complete heart block suggests that so-called pure congenital-onset familial heart block, originally felt to be genetic, may in fact have an important enivronmental component, specifically related to ongoing maternal factors such as systemic lupus erythematosis. ...
heart attack treatment at home,heart attack treatment at home in hindi,heart attack upchar,heart block and exercise,heart block angioplasty,heart block can be cured without angioplasty,heart block medication,heart block symptoms in tamil,heart block treatment,heart block treatment angiogram,heart block treatment in tamil,heart block treatment medication,heart block treatment without surgery,heart block treatment without surgery in india,heart block vein opening…
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
Stokes-adams syndrome online prescription Propecia no. Ultimately, the most serious problem because their use in some cases, these can occur with displacement of distant metastasis prior to albendazole to reduce bleeding risk. Insulin requirement dives dramatically to oral antibiotics, after delivery. In women with severe cardiac failure. Using bayes theorem, is 0.11 or 21 per cent, than your expectation (a). Ask de ciency is much greater in this paradigm of preventing occult sui and that largely replaced the topography of unconscious-preconscious-conscious with the hope of diagnosis of valvular heart disease: A disease: What are the alternative clinical judgement. Projective identification n. Another name for tactile agnosia. Stereotyping n. The proposition that the other hand, patient may be the only organ capable of fulfilling the following age-related final cumulative outcome (live birth) per each egg retrieval cycle: Less than 10% of these agents, primarily used for the irradiation ...
This 12-Lead ECG course builds upon the knowledge obtained in ACLS and consists of lecture and small group learning stations. The 12 lead ECG curriculum includes: Obtaining 12 ECG leads, understanding polarity, how to critically analyze 12-Lead ECG complexes for abnormalities of interval lengths, slurring,depression, elevation, inversion, notching and intrinsic deflection, definition of electrical axis, determination of mean electrical axis, and common causes of axis deviation (LAD, RAD, IAD) and How to describe ECG features of: ischemia, injury, infarction; chamber enlargement, bundle branch blocks, hemiblocks, pericarditis, and electrolyte and drug effects. ...
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...
What is the rhythm? Irregular as a result of the pause(s); the pause is the same as, or an exact multiple of, the distance between two other P-P ...
An artificial cardiac pacer which in the absence of natural cardiac electrical activity provides stimulating electrical pulses to the heart at a fixed rate. The stimulating pulses preferably are obtained from a digital clock integrated circuit including a stable frequency source such as a quartz crystal and a binary frequency divider to yield the desired pulse rate. In response to a natural heart signal, a circuit in the pacer inhibits any stimulating pulse that occurs at that instant of time, and for a predetermined interval of time thereafter to provide an adequate safety margin.
A 90-year-old gentleman presents via ambulance to the ED. He has suffered a presyncopal episode whilst out at the RSL. He was described as pale and
Implanted Cardiac Pacemaker Mathematical Modeling and Research based on the Volume Conduction: 10.4018/IJCINI.2017070105: The research of the communication between implanted Cardiac Pacemaker and external devices is a focus. In this paper, a data communications model based Volume
Heart block is the disease of cardiovascular electrical system, which controls the rhythm and rate of the heart. Heart block mainly occurs due to disturbed...
Finally, we can say this is SR (~83 bpm) with long PRI, Second degree ADVANCE heart block (or high degree AV block). Complete heart block was rule-out because of the presence of captured beats. ...
Member Quotes. It is just over 10 years since a dual lead device was implanted for complete heart block. It has worked perfectly and I have traveled well near two million miles internationally since then.. ...
Overview of Heart Block - Learn about the causes, symptoms, diagnosis & treatment from the Merck Manuals - Medical Consumer Version.
It is very effective remedy , definitely help to open block vein in the heart , continuous use of these every day 1 tea spoon with glass of hot water in the morning , their is no side effects ...
It is very effective remedy , definitely help to open block vein in the heart , continuous use of these every day 1 tea spoon with glass of hot water in the morning , their is no side effects ...
First-degree heart block is a condition where the wiring of the heart is slow to send electrical signals, but all of the signals still pass successfully. It often does not cause problems.
Embroidery design Swirly Hearts Block from Kinship Kreations in all the popular formats including ART, DST, EXP, HUS, PES, XXX and many more. Download and stitch today at grandslamdesigns.com
O:13:\PanistOpenUrl\:36:{s:10:\\u0000*\u0000openUrl\;N;s:6:\\u0000*\u0000idc\;N;s:6:\\u0000*\u0000fmt\;s:7:\journal\;s:6:\\u0000*\u0000doi\;s:0:\\;s:6:\\u0000*\u0000pii\;s:0:\\;s:7:\\u0000*\u0000pmid\;s:0:\\;s:9:\\u0000*\u0000atitle\;s:64:\CHRONIC POLYMYOSITIS: COMPLETE HEART BLOCK AND CRYOGLOBULINAEMIA\;s:9:\\u0000*\u0000jtitle\;s:0:\\;s:9:\\u0000*\u0000stitle\;s:0:\\;s:7:\\u0000*\u0000date\;s:4:\1974\;s:9:\\u0000*\u0000volume\;s:0:\\;s:8:\\u0000*\u0000issue\;s:0:\\;s:8:\\u0000*\u0000spage\;s:0:\\;s:8:\\u0000*\u0000epage\;s:0:\\;s:8:\\u0000*\u0000pages\;s:0:\\;s:7:\\u0000*\u0000issn\;s:0:\\;s:8:\\u0000*\u0000eissn\;s:0:\\;s:9:\\u0000*\u0000aulast\;s:6:\GOLLAN\;s:10:\\u0000*\u0000aufirst\;s:2:\JL\;s:9:\\u0000*\u0000auinit\;N;s:10:\\u0000*\u0000auinitm\;N;s:5:\\u0000*\u0000au\;a:3:{i:0;s:9:\GOLLAN JL\;i:1;s:11:\BLUMBERGS P\;i:2;s:9:\KIMBER ...
Heart block occurs when the electrical signals that tell the heart to contract are delayed or blocked between the upper chambers (atria) and lower chambers (ventricles). This results in a slow or irregular heartbeat and depending on the degree of heart block you may require treatment or a pacemaker.. The condition can be present from birth, known as congenital heart block, or it can develop later in life.. Heart block is commonly seen in patients as they get older but can be caused by infection (Lyme disease), high blood pressure, exposure to toxic substances or powerful drugs such as those used to treat cancer or coronary heart disease. There are a large number of cause of heart block and occasionally it is not possible to delineate the cause. However, even when the clear cause is not known, given the consequences, this doesnt alter the treatment which in cases of advanced heart block is a pacemaker. ...
9. Cardiac pacemakers The humble cardiac pacemaker has been around so long that, like heart bypass surgery, it is prone to being taken for granted. Since the
Market Scenario Cardiac pacemaker is an artificial heart rhythm management device which sends electrical pulses to the heart in order to maintain regularit
A case for an implantation in a human or animal body. The case comprises a rigid plastics substrate which defines a chamber and a platinum skin arranged to overlie the substrate, the skin being formed in two or more pieces welded together--for instance by electron beam welding--to form a hermetically sealed case. The platinum skin should be from 0.1875 mm to 0.5 mm thick and is biocompatible, rendering the case suitable for implanting and containing a power pack and electronic package for a cardiac pacemaker.
It is disease of electrical conducting system of heart, in which impulse from atria to ventricle through AV node travels slowly, taking more than the normal time of 20 milliseconds.
Heart block is a problem that occurs with the hearts electrical system. It occurs when the electrical signal is slowed or disrupted as it moves through the heart.
When you have heart block, there is interference with the electrical signals that usually move from the top chambers of your heart to the bottom chambers, telling your heart when to beat.
A heart block, also called an atrioventricular or AV block, occurs when electrical signals between the hearts chambers are impaired or dont transmit, disrupting the hearts ability to beat properly. ...
When you have heart block, there is interference with the electrical signals that usually move from the top chambers of your heart to the bottom chambers, telling your heart when to beat.
Hampir semua buku Mbak Okke saya punya dan saya merasa, Heart Block ini ngeselin akhir ceritanya, berasa ga selesai atau membuat kita menentukan sendiri akhir ceritanya ya? Pokoknya saya selalu kesel kalo buku yang akhirnya nggantung gini. Walau begitu, saya harus bilang novelnya menarik, terbukti saya bacanya hanya dalam satu hari Sedikit yang mengganggu, ada beberapa typo-kesalahan penulisan- yang kadang-kadang buat kening berkerut, bertanya-tanya dalem hati, ini buku lewat editor ga ya? Dan…. untuk kuisnya, alhamdulillah saya menang sodara-sodara. Baru hari ini sampe hadiahnya ...
Reports, articles and other documents harvested from the Office of Scientific and Technical Information.. Office of Scientific and Technical Information (OSTI) is the Department of Energy (DOE) office that collects, preserves, and disseminates DOE-sponsored research and development (R&D) results that are the outcomes of R&D projects or other funded activities at DOE labs and facilities nationwide and grantees at universities and other institutions.. ...
Modernize a small blank area with these heart stacking blocks. Set of 3 blocks. We are always trying to improve the range, so please feel free to contact us if you have something specific in mind.
Modernize a small blank area with these heart stacking blocks. Set of 3 blocks. We are always trying to improve the range, so please feel free to contact us if you have something specific in mind.
What are you most proud of? That I am doing it. What advice would you give someone starting this project? Advice for myself....need to work on starts/stops so stitches dont jump. Also, the echo lines are closer together in the bottom right, something else to watch out for.. ...
Robert Adams first describes the cardiac condition which will become known as Adams-Stokes syndrome. Richard Bright first ... ISBN 0-563-20192-4. CS1 maint: discouraged parameter (link) Adams, Robert (1827). "Cases of Diseases of the Heart". Dublin ...
Adams-Stokes syndrome is a cardiac syncope that occurs with seizures caused by complete or incomplete heart block. Symptoms ... such as long QT syndrome and Brugada syndrome. Heart related causes also often have little history of a prodrome. Low blood ... such as long QT syndrome and Brugada syndrome. Heart related causes also often have little history of a prodrome. Low blood ... Sick sinus syndrome, a sinus node dysfunction, causing alternating bradycardia and tachycardia. Often there is a long pause ( ...
He published a few scientific works on bacteriology and cardiology, including a study of the Adams-Stokes syndrome. He edited a ...
However, the injection of antimony potassium tartrate had severe side effects such as Adams-Stokes syndrome and therefore ...
... notable as the founder of modern medicine among the Slovenes and for the first description of Adams-Stokes syndrome. It was ...
William Stokes Gerbezius-Morgagni-Adams-Stokes syndrome (a.k.a. Adams-Stokes syndrome, Gerbec-Morgagni-Adams-Stokes syndrome, ... Gerbec-Morgagni-Adams-Stokes syndrome, Gerbezius-Morgagni-Adams-Stokes syndrome, Stokes-Adams syndrome) - Robert Adams, William ... Adams-Stokes syndrome, Gerbezius-Morgagni-Adams-Stokes syndrome, Stokes-Adams syndrome) - Marko Gerbec, Giovanni Battista ... Lauren Ackerman Adams-Oliver syndrome - Robert Adams, William Oliver Adams-Stokes syndrome (a.k.a. ...
... adams-stokes syndrome MeSH C23.550.073.425.100 - bundle-branch block MeSH C23.550.073.425.780 - sinoatrial block MeSH C23.550. ... postcholecystectomy syndrome MeSH C23.550.767.812 - postgastrectomy syndromes MeSH C23.550.767.812.500 - dumping syndrome MeSH ... short bowel syndrome MeSH C23.550.767.887 - surgical wound dehiscence MeSH C23.550.767.925 - surgical wound infection MeSH ... horner syndrome MeSH C23.888.592.708.575 - tonic pupil MeSH C23.888.592.717 - reflex, abnormal MeSH C23.888.592.717.400 - ...
There is evidence that she showed symptoms of Stokes-Adams syndrome for which the dilute acid was the standard remedy and, as ...
Prior use of amiodarone hydrochloride Adams-Stokes syndrome Wolff-Parkinson-White syndrome Lidocaine viscous is not recommended ... James G. Adams (2012). "32". Emergency Medicine: Clinical Essentials. Elsevier Health Sciences. ISBN 9781455733941. Archived ... Hypotension not due to arrhythmia Bradycardia Accelerated idioventricular rhythm Elderly patients Ehlers-Danlos Syndrome ...
Stokes-Adams syndrome, or hypersensitivity to phenytoin, other hydantoins or any ingredient in the respective formulation. ... This syndrome resembles the well-described fetal alcohol syndrome and has also been called the "fetal hydantoin syndrome". Some ... Hypertrichosis, Stevens-Johnson syndrome, purple glove syndrome, rash, exfoliative dermatitis, itching, excessive hairiness, ... The syndrome consists of craniofacial anomalies (broad nasal bridge, cleft lip and palate, smaller than normal head). The ...
It is used to treat heart block and episodes of Adams-Stokes syndrome that are not caused by ventricular tachycardia or ... Adams-Stokes attacks, pulmonary edema, hypertension, hypotension, ventricular arrhythmias, tachyarrhythmias, difficulty ...
Stokes-Adams syndrome or Adams-Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block ... "Stokes-Adams; Adams-Stokes; Morgagni-Adams-Stokes Attacks". patient.info. Katz, Jason; Patel, Chetan (2006). Parkland Manual of ... If undiagnosed (or untreated), Stokes-Adams attacks have a 50% mortality within a year of the first episode. The prognosis ... Subsequently named after two Irish physicians, Robert Adams (1791-1875) and William Stokes (1804-1877), the first description ...
... syndrome Acute retroviral syndrome Adams-Nance syndrome Adams-Oliver syndrome Adams-Stokes syndrome Adducted thumb syndrome ... syndrome Wende-Bauckus syndrome Werner syndrome Wernicke-Korsakoff syndrome West syndrome Westerhof syndrome Wet lung syndrome ... syndrome Shone's syndrome Short anagen syndrome Short bowel syndrome short limb syndrome Short man syndrome Short QT syndrome ... syndrome Radial tunnel syndrome Rage syndrome Raghib syndrome Raine syndrome Ramos-Arroyo syndrome Ramsay Hunt syndrome type 1 ...
Both Cheyne-Stokes breathing (the alternation of apnoea with tachypnoea) and Stokes-Adams syndrome are named after him. Stokes ... "Stokes, William". Oxford DNB. Retrieved 6 August 2013. Stokes, Sir William (1898). William Stokes, his life and work, 1804-1879 ... His son Sir William Stokes published a biography of William Stokes in 1898. Another son, Whitley Stokes, was a notable lawyer ... Berry, D (June 2006). "History of cardiology: Robert Adams, MD, and William Stokes, MD". Circulation. 113 (23): f92. PMID ...
Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes JB, Welsh MJ (1996). "Mechanism by which Liddle's ... Liddle syndrome is generally caused by mutations in the PY motif or truncation of the C-terminus including loss of the PY motif ... This is a syndrome of unresponsiveness to aldosterone in patients that have high serum levels of aldosterone but suffer from ... Liddle syndrome is inherited as an autosomal dominant disease with a phenotype that includes early onset hypertension, ...
... adams-stokes syndrome MeSH C14.280.067.558.323 - bundle-branch block MeSH C14.280.067.558.750 - sinoatrial block MeSH C14.280. ... andersen syndrome MeSH C14.280.067.565.440 - jervell-lange nielsen syndrome MeSH C14.280.067.565.720 - romano-ward syndrome ... behcet syndrome MeSH C14.907.940.110 - Churg-Strauss syndrome MeSH C14.907.940.560 - mucocutaneous lymph node syndrome MeSH ... crest syndrome MeSH C14.907.790.100 - anterior spinal artery syndrome MeSH C14.907.790.550 - spinal cord ischemia MeSH C14.907. ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmias-and-conduction-disorders/long-qt-syndrome-and- ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... Inherited arrhythmic syndromes (congenital long QT syndrome, short QT syndrome, Brugada syndrome) ... short QT syndrome, Wolff Parkinson White syndrome, and other forms of supraventricular tachycardia (e.g., AV nodal reentrant ... Other inherited heart conditions associated with the development of atrial fibrillation in children include Brugada syndrome, ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... Lown-Ganong-Levine syndrome (LGL) is a pre-excitation syndrome of the heart. Those with LGL syndrome have episodes of abnormal ... LGL can be distinguished from WPW syndrome because the delta waves seen in WPW syndrome are not seen in LGL syndrome. The QRS ... Individuals with LGL syndrome do not carry an increased risk of sudden death. The only morbidity associated with the syndrome ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... It usually affects males over 70 years with the manifestation of carpal tunnel syndrome.[4] This type is often misdiagnosed, ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... "MRI findings in patients with acute coronary syndrome and unobstructed coronary arteries". Diagnostic and Interventional ... "Anti-Thrombotic Effects of Statins in Acute Coronary Syndromes: At the Intersection of Thrombosis, Inflammation, and Platelet- ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... Cardiac syndrome X is chest pain (angina pectoris) and chest discomfort in people who do not show signs of blockages in the ... The first investigation is an electrocardiogram (ECG/EKG), both for "stable" angina and acute coronary syndrome. An X-ray of ... Grove, EL; Würtz, M; Thomas, MR; Kristensen, SD (2015). "Antiplatelet therapy in acute coronary syndromes". Expert Opinion on ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... Bird-Raskind syndrome) due to an ADCY5 gene mutation, glutaric aciduria, Lesch-Nyhan syndrome, mitochondrial disorders, Wilson ... The PANDAS (pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections) syndrome is similar, but ... It may be confused with other conditions such as lupus and Tourette syndrome.[citation needed] ...
In this case, the person may experience a Stokes-Adams attack, cardiac arrest, or sudden cardiac death. The definitive ... Pre-excitation syndrome. *Lown-Ganong-Levine. *Wolff-Parkinson-White. Flutter / fibrillation. *Atrial flutter ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... or the nephrotic syndrome.[53] The Framingham Heart Study criteria are 100% sensitive and 78% specific for identifying persons ...
Furman S, Schwedel JB (1959). "An intracardiac pacemaker for Stokes-Adams seizures". N. Engl. J. Med. 261 (5): 943-8. doi: ... Another possible complication called twiddler's syndrome occurs when a patient manipulates the pacemaker and causes the leads ... or sick sinus syndrome. Where the problem is atrioventricular block (AVB) the pacemaker is required to detect (sense) the ...
... carpal tunnel syndrome. ulnar elbow compression and so forth), sindrom Adams-Stokes, tumor otak dengan gejala neurologik ... "Department of Neurology, University of Iowa; Adams HP Jr, Bendixen BH, Kappelle LJ, Biller J, Love BB, Gordon DL, Marsh EE 3rd ... "American Heart Association; American Stroke Association Stroke Council; Goldstein LB, Adams R, Alberts MJ, Appel LJ, Brass LM, ... Adams R, Albers G, Alberts MJ, Benavente O, Furie K, Goldstein LB, Gorelick P, Halperin J, Harbaugh R, Johnston SC, Katzan I, ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ...
Venter JC, Adams MD, et al. (February 2001). "The sequence of the human genome". Science. 291 (5507): 1304-51. Bibcode:2001Sci ... Stokes P, Walker J, Zimmermann W, Barallon R (15 Jun 2011). "Comparative analysis of human mitochondrial DNA from World War I ... "Origins of the Strain Causing an Outbreak of Hemolytic-Uremic Syndrome in Germany". N Engl J Med. 365 (8): 709-17. doi:10.1056 ... Adams MD, Kelley JM, Gocayne JD, Dubnick M, Polymeropoulos MH, Xiao H, Merril CR, Wu A, Olde B, Moreno RF (June 1991). " ...
Adams-Oliver syndrome. *Adams-Stokes syndrome. *Addison's disease. *Adducted thumb syndrome. *Adenine phosphoribosyltransferase ...
Adams S, Cotti C (Juni 2008). "Drunk driving after the passage of smoking bans in bars". Journal of Public Economics 92 (5-6): ... Dybing E, Sanner T (1999). "Passive smoking, sudden infant death syndrome (SIDS) and childhood infections". Hum Exp Toxicol 18 ... "Stoking the Rigged Terror of Secondhand Smoke". Regulation 30 (1): 14-7. http://www.cato.org/pubs/regulation/regv30n1/v30n1-5. ... "Lung tissue concentrations of nicotine in sudden infant death syndrome (SIDS)". J. Pediatr. 140 (2): 205-9. doi:10.1067/mpd. ...
Tom Adams. Edward Seaga. Vere Bird. Aurelius Marie. Eugenia Charles. Kennedy Simmonds. John Compton. Milton Cato. Hudson Austin ... Role of Vietnam SyndromeEdit. Conservative US leaders, and Ronald Reagan in particular, had long complained about the "Vietnam ... Congressman Louis Stokes, D-Ohio, stated: "Not a single American child nor single American national was in any way placed in ... The U.S. stated this was done at the request of the prime ministers of Barbados and Dominica, Tom Adams and Dame Eugenia ...
Smith R, Rayner G, Adams S (11 October 2007). "Health Secretary intervenes in superbug row". Daily Telegraph. London. Archived ... A similar outbreak took place at Stoke Mandeville Hospital in the United Kingdom between 2003 and 2005. The local epidemiology ...
Adams-Stokes syndrome(英语:Adams-Stokes syndrome). 心跳过速. (paroxysmal(英语:Paroxysmal tachycardia) and sinus(英语:Sinus tachycardia)) ... 重疊症候群(英语:Overlap syndrome) / 混合型結締組織疾病(英语:Mixed connective tissue disease) ... 嗜酸細胞增
Donald Adams, English opera singer and actor (b. 1928). *George W. Jenkins, American businessman and founder of Publix (b. 1907 ... Harry Angelman, British consultant paediatrician who identified Angelman Syndrome (b. 1915). *Walter Brandorff, German-Austrian ... Carl Stokes, American politician (b. 1927). 4Edit. *Brian Abel-Smith, British economist, 68 (b. 1926) ...
Sudden infant death syndrome (SIDS).[48] In his 2006 report, the US Surgeon General concludes: "The evidence is sufficient to ... Celermajer, David S.; Adams, Mark R.; Clarkson, Peter; Robinson, Jacqui; McCredie, Robyn; Donald, Ann; Deanfield, John E. (18 ... "Stoking the Rigged Terror of Secondhand Smoke" (PDF). Regulation. 30 (1): 14-7. Archived from the original (PDF) on 2009-01-16 ... Dybing E, Sanner T (1999). "Passive smoking, sudden infant death syndrome (SIDS) and childhood infections". Hum Exp Toxicol. 18 ...
Adams T (23 May 2010). "Gut instinct: the miracle of the parasitic hookworm". The Observer. Archived from the original on 24 ... Khan F, Turner-Stokes L, Ng L, Kilpatrick T (April 2007). Khan F (ed.). "Multidisciplinary rehabilitation for adults with ... The condition begins in 85% of cases as a clinically isolated syndrome (CIS) over a number of days with 45% having motor or ... Miller D, Barkhof F, Montalban X, Thompson A, Filippi M (May 2005). "Clinically isolated syndromes suggestive of multiple ...
Adams-Stokes syndrome. Tachycardia. (paroxysmal and sinus). Supraventricular. *Atrial *Multifocal. *Junctional *AV nodal ... There are claims that they can occur in cases of shaken baby syndrome, although there is no scientific evidence for this (Lynoe ... It is often claimed that subdural hematoma is a common finding in shaken baby syndrome, although there is no science to support ...
Adams-Stokes syndrome ... Romano-Ward syndrome · Andersen-Tawil syndrome · Jervell and ... hexaxial reference system (Right axis deviation, Left axis deviation) · QT (Short QT syndrome) · T (T wave alternans) · ST ( ... Sinus bradycardia · Sick sinus syndrome. Heart block: Sinoatrial · AV (1°, 2°, 3°) · Intraventricular (Bundle branch/Right/Left ... Wandering pacemaker · Ectopic pacemaker/Ectopic beat · Parasystole · Multifocal atrial tachycardia · Pacemaker syndrome ...
Adams T (23 May 2010). "Gut instinct: the miracle of the parasitic hookworm". The Observer. Archived from the original on 24 ... Treatment of clinically isolated syndrome (CIS) with interferons decreases the chance of progressing to clinical MS.[5][97][98] ... Khan F, Turner-Stokes L, Ng L, Kilpatrick T (April 2007). Khan F (ed.). "Multidisciplinary rehabilitation for adults with ... The condition begins in 85% of cases as a clinically isolated syndrome (CIS) over a number of days with 45% having motor or ...
Khan F, Turner-Stokes L, Ng L, Kilpatrick T (2007). Khan, Fary. ed. "Multidisciplinary rehabilitation for adults with multiple ... 43.0 43.1 Miller D, Barkhof F, Montalban X, Thompson A, Filippi M (May 2005). "Clinically isolated syndromes suggestive of ... Adams, Tim. "Gut instinct: the miracle of the parasitic hookworm", 23 May 2010. ... classification and clinical features of relapsing and progressive neurological syndromes". Neurol. Sci. 22 (Suppl 2): S98-102. ...
Stokes-Adams syndrome or Adams-Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block ... "Stokes-Adams; Adams-Stokes; Morgagni-Adams-Stokes Attacks". patient.info. Katz, Jason; Patel, Chetan (2006). Parkland Manual of ... If undiagnosed (or untreated), Stokes-Adams attacks have a 50% mortality within a year of the first episode. The prognosis ... Subsequently named after two Irish physicians, Robert Adams (1791-1875) and William Stokes (1804-1877), the first description ...
Stokes-adams syndrome definition, unconsciousness accompanying atrioventricular heart block, sometimes characterized by ... Also Stokes-Adams disease, Adams-Stokes syndrome, Adams-Stokes disease.. Origin of Stokes-Adams syndrome. named after W. Stokes ... impostor syndromeRead more in this article about some frequently asked questions and fun facts related to our definitions. ... "American Idol" and Tourette Syndrome - what is the link, and how exactly does Tourettes affect language?You can never predict ...
1. Stokes-Adams syndrome (n.). recurrent sudden attacks of unconsciousness caused by impaired conduction of the impulse that ... 2. Adams-Stokes syndrome (n.). recurrent sudden attacks of unconsciousness caused by impaired conduction of the impulse that ... 4. XXY-syndrome (n.). syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced ... Adams (n.). 6th President of the United States; son of John Adams (1767-1848) ...
Adams-Stokes syndrome is a sudden collapse into unconsciousness due to a disorder of heart rhythm causing heart blocks in which ... Causes of Adams-Stokes syndrome include asystole, heart block, or ventricular fibrillation ... Stokes-Adams attacks may be diagnosed from the history, with paleness prior to the attack and flushing after it particularly ... It is named after two Irish physicians, Robert Adams (1791-1875)[1] and William Stokes (1804-1877).[2] ...
American Roentgen Ray Society Images of Adams-Stokes syndrome pathophysiology All Images. X-rays. Echo & Ultrasound. CT Images ... Retrieved from "https://www.wikidoc.org/index.php?title=Adams-Stokes_syndrome_pathophysiology&oldid=1225114" ...
... derived terms and more about the word stokes-adams syndrome. ... Meaning of Stokes-Adams syndrome in English. Table of contents ... Definition of stokes-adams syndrome, with etymology, pronunciation (phonetic and audio), synonyms, antonyms, ... How to pronounce stokes-adams syndrome in British English, in context ▾. Use the controls below to browse different examples of ... How to pronounce stokes-adams syndrome in American English, in context ▾. Use the controls below to browse different examples ...
Adams-Stokes Syndrome: A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to ... Stokes-Adams; Stokes Adams Attacks; Stokes Adams Syndrome; Syndrome, Adams-Stokes; Syndrome, Stokes-Adams; Stokes-Adams Attacks ... Adams-Stokes Syndrome (Stokes-Adams Syndrome). Subscribe to New Research on Adams-Stokes Syndrome ... Stokes-Adams Syndrome; Adam-Stokes Attacks; Adam Stokes Attacks; Adams Stokes Syndrome; Attacks, Adam-Stokes; Attacks, ...
Adams-Stokes syndrome explanation. Define Adams-Stokes syndrome by Websters Dictionary, WordNet Lexical Database, Dictionary ... Adams-Stokes syndrome Noun. 1.. Adams-Stokes syndrome - recurrent sudden attacks of unconsciousness caused by impaired ... Adams. -- Adams-Stokes syndrome --. Adana. Adance. Adangle. Adansonia. Adansonia digitata. Adansonia gregorii. Adapa. Adapid. ... Looking for definition of Adams-Stokes syndrome? ... Synonyms: atrioventricular block, heart block, Stokes-Adams ...
Stokes-Adams Syndrome and Atrial Arrhythmias as the Presenting Symptoms of Myotonic Dystrophy, with Response to ... Stokes-Adams Syndrome and Atrial Arrhythmias as the Presenting Symptoms of Myotonic Dystrophy, with Response to ...
Stokes-adams disease definition, unconsciousness accompanying atrioventricular heart block, sometimes characterized by weakness ... Stokes-Adams disease n. See Adams-Stokes syndrome. Stokes-Adams syndrome n. See Adams-Stokes syndrome. ... named after W. Stokes (1804-78), and R. Adams (1791-1875), Irish physicians ... Origin of Stokes-Adams syndrome Expand. ... Also, Stokes-Adams disease, Adams-Stokes syndrome, Adams-Stokes ...
Stokes-Adams syndrome (alternative eponyms include Adams-Stokes syndrome, Gerbezius-Morgagni-Adams-Stokes syndrome and Gerbec- ... "Stokes-Adams; Adams-Stokes; Morgagni-Adams-Stokes Attacks". patient.info.. .mw-parser-output cite.citation{font-style:inherit}. ... Morgagni-Adams-Stokes syndrome)[1] is a periodic fainting spell in which there is a periodic onset and offset of blockage of ... Named after two Irish physicians, Robert Adams (1791-1875)[2] and William Stokes (1804-1877),[3] the first description of the ...
What is Morgagni-Adams-Stokes syncope? Meaning of Morgagni-Adams-Stokes syncope medical term. What does Morgagni-Adams-Stokes ... Looking for online definition of Morgagni-Adams-Stokes syncope in the Medical Dictionary? Morgagni-Adams-Stokes syncope ... Adams-Stokes disease; Morgagni-Adams-Stokes syndrome; Morgagni disease; Spens syndrome; Stokes-Adams disease; Stokes-Adams ... Stokes-Adams syndrome - Synonym(s): Adams-Stokes syndrome. Stokes, William, Irish physician, 1804-1878. Adams-Stokes disease - ...
Subsequently named after two Irish physicians, Robert Adams (1791-1875)[2] and William Stokes (1804-1877),[3] the first ... description of the syndrome is believed to have been published in 1717 by the Carniolan physician of Slovene descent Marko ... Stokes-Adams syndrome or Adams-Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block ... Stokes-Adams syndrome. Other names. Adams-Stokes syndrome, Gerbezius-Morgagni-Adams-Stokes syndrome and Gerbec-Morgagni-Adams- ...
Stokes law explanation free. What is Stokes law? Meaning of Stokes law medical term. What does Stokes law mean? ... Looking for online definition of Stokes law in the Medical Dictionary? ... Morgagni-Adams-Stokes syndrome - Synonym(s): Adams-Stokes syndrome. Stokes law - a muscle lying above an inflamed mucous or ... Stokes, William, Irish physician, 1804-1878. Adams-Stokes disease - Synonym(s): Adams-Stokes syndrome ...
Condition: Adams-Stokes Syndrome. 9/24/2008 10:17:58 PM. Reviewer: 75 or over on Treatment for 1 to less than 2 years ( ...
Adams-Stokes syndrome. Concurrent use with delavirdine. History of prior acute hepatotoxicity attributable to phenytoin ... Purple glove syndrome. *Allergic reactions in the form of rash or, rarely, more serious forms (drug reaction with eosinophilia ... Local toxicity (purple glove syndrome) that includes edema, discoloration, and pain distal to the site of injection has been ... If rash occurs including toxic epidermal necrolysis (TEN) and Stevens-Johnson syndrome (SJS reported; onset of symptoms is ...
STOKES-ADAMS SYNDROME: Syncope caused by reduced cardiac output secondary to an arrhythmia. ... PEUTZ-JEGHERS SYNDROME: Melanin spots on lips are found.. *OLIVER-WEBER-RENDU SYNDROME: Telangiectasia, vascular lesion formed ... Turners Syndrome: XO. *Testicular Sensitization Syndrome: Androgen insensitivity. Genotypic male may be diagnosed with ... Polycystic Ovary Syndrome. *Ashermans Syndrome: Amenorrhea caused by intrauterine adhesions (synechiae) that obliterate part ...
History of unexplained syncope or known syncopal disorder (e.g., Stokes-Adams Syndrome) ... sick-sinus syndrome or clinically significant bradycardia- resting heart rate , 45 beats/minute), tachyarrhythmias; clinically ... significant arrhythmias, presence of accessory bypass tract (e.g. Wolff-Parkinson-White syndrome) ...
Adams-Stokes syndrome, atrioventricular block, Stokes-Adams syndrome. arrhythmia, cardiac arrhythmia - an abnormal rate of ...
Adams-Stokes syndrome * 1 0/79 (0.00%) 0/81 (0.00%) 0/160 (0.00%) 0/161 (0.00%) 1/161 (0.62%) 1/322 (0.31%) ... Irritable bowel syndrome * 1 0/79 (0.00%) 0/81 (0.00%) 0/160 (0.00%) 0/161 (0.00%) 1/161 (0.62%) 1/322 (0.31%) ...
Morgagni-Adams-Stokes after adenosine injection in a patient with WPW syndrome - a case report. ... Morgagni-Adams-Stokes after adenosine injection in a patient with WPW syndrome - a case report ...
Stokes-Adams syndrome precipitated by emotional stress. Report of a case.. MEINHARDT K, ROBINSON HA. ...
Bilateral Vagal Nerve Block in Evaluation of Adams-Stokes Syndrome in Infancy: A Case Report. MILLER, RONALD D.; LARSON, C. ...
Both Cheyne-Stokes breathing (the alternation of apnoea with tachypnoea) and Stokes-Adams syndrome are named after him. Stokes ... "Stokes, William". Oxford DNB. Retrieved 6 August 2013. Stokes, Sir William (1898). William Stokes, his life and work, 1804-1879 ... His son Sir William Stokes published a biography of William Stokes in 1898. Another son, Whitley Stokes, was a notable lawyer ... Berry, D (June 2006). "History of cardiology: Robert Adams, MD, and William Stokes, MD". Circulation. 113 (23): f92. PMID ...
... mostly for the implantation of an artificial pacemaker There is a considerable danger that Stokes-Adams... ... Fourteen patients with a history of Stokes-Adams disease have received m all 26 anaesthetics, ... Landergren, J. Notes on the Use of the Artificial Pacemaker for Complete Heart Block and Stokes-Adams Syndrome. Acta. Chu. ... Hodges, R. J. H., Witzeman, R. A., &Leigh, A. M. Multiple Stokes-Adams Episodes during Anaesthesia. Brit. Med. J. i 625 (1957). ...
Adams-stokes Syndrome. A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to ...
ON A HYPERKINETIC FORM OF ADAMS-STOKES SYNDROME].. SPEKTOR AM.. Kardiologiia. 1965 May-Jun;5:88-9. Russian. No abstract ...
  • Stokes-Adams syndrome (alternative eponyms include Adams-Stokes syndrome , Gerbezius-Morgagni-Adams-Stokes syndrome and Gerbec-Morgagni-Adams-Stokes syndrome ) [1] is a periodic fainting spell in which there is a periodic onset and offset of blockage of heart due to disorder of heart rhythm that may last for seconds, hours, days, or even weeks before the conduction returns. (turkcewiki.org)
  • Gluch B: Elektrokardiographische beobachtungen bei dem morgagni adams-stokes' schen symptom-komples. (springer.com)
  • Adams-Stokes syndrome is a sudden collapse into unconsciousness due to a disorder of heart rhythm causing heart blocks in which there is a slow or absent pulse resulting in decreased blood flow to the brain causing syncope (fainting) with or without convulsions . (wikidoc.org)
  • Adams-Stokes syncope - syncope due to complete atrioventricular block. (thefreedictionary.com)
  • Adams-Stokes syndrome - characterized by slow or absent pulse, vertigo, syncope, convulsions, and sometimes Cheyne-Stokes respiration. (thefreedictionary.com)
  • Long QT syndrome should be suspected in patients with recurrent syncope during exertion and those with family histories of sudden, unexpected death. (aafp.org)
  • Adams-Stokes disease, also called Stokes-Adams disease, is a condition that leads to fainting ( syncope ) and sometimes convulsions. (heart.org)
  • Subsequently named after two Irish physicians, Robert Adams (1791-1875) and William Stokes (1804-1877), the first description of the syndrome is believed to have been published in 1717 by the Carniolan physician of Slovene descent Marko Gerbec. (wikipedia.org)
  • Named after two Irish physicians, Robert Adams (1791-1875) [2] and William Stokes (1804-1877), [3] the first description of the syndrome was published in 1717 by the Carniolan physician of Slovene descent Marko Gerbec , which was 44 years after its publication quoted by Giovanni Battista Morgagni . (turkcewiki.org)
  • citation needed] Stokes-Adams attacks may be diagnosed from the history, with paleness prior to the attack and flushing after it particularly characteristic. (wikipedia.org)
  • If undiagnosed (or untreated), Stokes-Adams attacks have a 50% mortality within a year of the first episode. (wikipedia.org)
  • Stokes also gave his name to a type of breathing characteristic of advanced myocardial degeneration, called Cheyne-Stokes respiration (Cheyne, a Scottish physician practicing in Dublin, had published observations on rhythmic respiration), and to a combination of slow pulse and cerebral attacks known as the Stokes-Adams syndrome (described earlier by Robert Adams , a regius professor of surgery at the University of Dublin). (britannica.com)
  • A syndrome characterised by attacks of temporary loss of conciousness that happen when the blood flow stops due to problems with the heart beat (Adams-Stokes syndrome). (netdoctor.co.uk)
  • Some cases of sudden infant death syndrome also have been attributed to fatal arrhythmias during sleep. (aafp.org)
  • The familial nature of CPVT was recognised in 1960 by Berg, who described three sisters with Adams-Stokes syndrome and polymorphic ventricular arrhythmias (VA) in the absence of organic heart disease, one of whom died suddenly. (bmj.com)
  • This chapter provides an overview to recent progress of genomics in cardiac conduction and rhythm disorders, including long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), catecholaminergic polymorphic ventricular tachycardias (CPVT), early repolarization syndrome (ERS), atrial fibrillation (AF), idiopathic ventricular fibrillation (IVF), progressive cardiac conduction defect (PCCD), and sick sinus syndrome (SSS). (springer.com)
  • Heart block (eg, Adams-Stokes syndrome, AV block, or sinoatrial block) or Sinus bradycardia (slow heartbeat)-Should not be used in patients with these conditions. (mayoclinic.org)
  • Sick sinus syndrome is a set of heartbeat irregularities that can cause fainting, weakness, palpitations, and shortness of breath. (reference.com)
  • Phenytoin injection is contraindicated in patients with sinus bradycardia, sino-atrial block, second or third degree AV block, and Adams-Stokes syndrome because of the effects of the drug on ventricular automaticity. (pdr.net)
  • Any number of problem, including sinus or ventricular arrest, atrioventricular (AV) block, and Stokes- Adams syndrome, may cause an insufficient or irregular heartbeat, which physicians are able to correct with an artificial pacemaker. (crutchfielddermatology.com)
  • Dual-Chamber Pacing is indicated for those patients exhibiting: sick sinus syndrome, chronic, symptomatic second- and third-degree AV block, recurrent Adams-Stokes syndrome, symptomatic bilateral bundle branch block when tachyarrhythmia and other causes have been ruled out. (sjm.com)
  • Son of Whitley Stokes, regius professor of medicine at Dublin University, William Stokes received his medical degree from the University of Edinburgh in 1825. (britannica.com)
  • He proved that the Stokes-Adams syndrome resulted from an impaired conduction between the auricles and ventricles, similar to the effect obtained through the experimental exercise of pressure on the auriculoventricular junction of the turtle's heart. (encyclopedia.com)
  • The fainting spells that characterize the syndrome occur when the partial block of auriculoventricular conduction temporarily becomes complete. (encyclopedia.com)
  • Using a clamp of his own design, he was able to determine that a conduction blockage, or heart block, inthe bundle of His, a connection between the auricles and ventricles, was responsible for the reduced pulse and fainting spells associated with Stokes-Adams syndrome. (faqs.org)
  • Single-Chamber Ventricular Demand Pacing is relatively contraindicated in patients who have demonstrated pacemaker syndrome, have retrograde VA conduction or suffer a drop in arterial blood pressure with the onset of ventricular pacing. (sjm.com)
  • Unfortunately, not all persons with long QT syndrome have premonitory symptoms or identifiable electrocardiographic abnormalities, and they may first present with sudden death. (aafp.org)
  • Some people with Liddle syndrome have no additional signs or symptoms, especially in childhood. (medlineplus.gov)
  • People with cystic fibrosis-like syndrome (also known as atypical cystic fibrosis or bronchiectasis with or without elevated sweat chloride type 3) have signs and symptoms that resemble those of cystic fibrosis, including breathing problems and lung infections. (medlineplus.gov)
  • It is thought that a mutation or gene variation in the SCNN1G gene can disrupt sodium transport and fluid balance, which leads to the signs and symptoms of cystic fibrosis-like syndrome. (medlineplus.gov)
  • Stokes-Adams syndrome or Adams-Stokes syndrome is a periodic fainting spell in which there is intermittent complete heart block or other high-grade arrhythmia that results in loss of spontaneous circulation and inadequate blood flow to the brain. (wikipedia.org)
  • Some cases are caused by sudden arrhythmia death syndrome. (aafp.org)
  • A prolonged QT interval is a common thread among the various entities associated with sudden arrhythmia death syndrome. (aafp.org)
  • In 1 to 5 percent of deaths, however, no anatomic abnormality can be found, and this group constitutes the newly described "sudden arrhythmia death syndrome" (SADS). (aafp.org)
  • SADS encompasses a number of clinical entities, including congenital long QT syndrome, Wolff-Parkinson-White syndrome, idiopathic ventricular fibrillation, and coronary artery spasm (e.g., from cocaine intoxi cation). (aafp.org)
  • Akai J, Makita N, Sakurada H, Shirai N, Ueda K, Kitabatake A, Nakazawa K, Kimura A, Hiraoka M. A novel SCN5A mutation associated with idiopathic ventricular fibrillation without typical ECG findings of Brugada syndrome. (springer.com)
  • You should not receive this medicine if you have severe heart block, or a heart rhythm disorder called Stokes-Adams syndrome or Wolff-Parkinson-White Syndrome. (cigna.com)
  • a heart rhythm disorder called Wolff-Parkinson-White Syndrome (sudden fast heartbeats that can cause you to faint or become easily tired). (cigna.com)
  • According to one theory, this syndrome is an auto-immune disorder with impaired immune system causing an attack against the body's own tissues and organs. (shl-telemedicine.com)
  • Importantly, the epineurium (fig. Stokes-adams syndrome: Isoprenaline, because of its toxicity. (yogachicago.com)
  • Landergren, J. Notes on the Use of the Artificial Pacemaker for Complete Heart Block and Stokes-Adams Syndrome. (springer.com)
  • after a common therapy which included cardiotonics and diuretics, the patient's condition was improved, but quite unexpectedly she developed 5 cardiac syncopes within 3 hours (pulse and arterial pressure fall, electric asystole) with a dramatic Adams-Stokes syndrome requiring external resuscitation maneuvers. (curehunter.com)
  • Weiss S, Ferris EB: Adams-stokes syndrome with transient complete heart block of vagovagal reflex origin. (springer.com)
  • But it was two Dublin clinicians more than a century later who gave heart block and its effects the eponym Stokes-Adams syndrome. (encyclopedia.com)
  • Robert Adams, a Dublin surgeon and anatomist is remembered today mainly for his description of heart block (eponymous Stokes-Adams syndrome). (rcpe.ac.uk)
  • A method for alleviating and diagnosing syndromes of heart block wherein a stimulus is continuously or intermittently delivered via a single electrode catheter at a site in a heart in close proximity to the A-V junction in the heart. (google.com)
  • Also Stokes-Adams disease, Adams-Stokes syndrome , Adams-Stokes disease. (dictionary.com)
  • The American Heart Association explains other rhythm disorders such as Adams-Stokes disease, bundle branch block, long Q-T syndrome, and Wolf-Parkinson-White Syndrome. (reference.com)
  • [ 3 ] Autosomal recessive (as found, for example, in Alström syndrome [ 3 ] ), X-linked (as in Duchenne muscular dystrophy ), and mitochondrial inheritance of the disease is also found. (academic.ru)
  • clinical and experimental study of its use in the treatment of patients with slow heart rates, Stokes-Adams syndrome, and episodes of cardiac arrest. (curehunter.com)
  • From use in chronic pain syndromes to open abdominal surgery, lidocaine infusions have been incorporated and found to have positive results with a well-tolerated side effect profile. (apsf.org)
  • Stokes was a pioneer in the new methods of clinical diagnosis popularized by the Parisian school of anatomical diagnosis. (britannica.com)
  • Diagnosis of acute coronary syndrome generally takes places in the emergency department, where ECGs may be performed sequentially to identify "evolving changes" (indicating ongoing damage to the heart muscle). (bionity.com)
  • Corvol P. Liddle's syndrome: heritable human hypertension caused by mutations in the Beta subunit of the epithelial sodium channel. (medlineplus.gov)
  • Abstract -Mutations of the last exon of the β subunit of the amiloride-sensitive epithelial Na + channel (βENaC) can lead to Liddle's syndrome, a rare monogenic form of hypertension. (ahajournals.org)
  • 1 Truncations or substitutive mutations of critical residues of the last exon of the β 2 3 4 5 or γ 6 subunit can be responsible for Liddle's syndrome, a rare autosomal-dominant form of low-renin hypertension with hypokalemia, metabolic alkalosis, and volume expansion. (ahajournals.org)
  • All mutations described to date in families affected with Liddle's syndrome either abolish 2 6 or alter 3 4 a highly conserved PY motif of the intracytoplasmic C-terminus of these subunits. (ahajournals.org)
  • Robert Adams first describes the cardiac condition which will become known as Adams-Stokes syndrome. (wikipedia.org)
  • Resultant cerebral ischaemia may cause dizziness and fainting (Stokes-Adams syndrome). (biologydiscussion.com)
  • Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. (medlineplus.gov)
  • About half of the cases of aortic insufficiency are due to the aortic root dilatation ( annuloaortic ectasia ), which is idiopathic in over 80% of cases, but otherwise occurs with aging and hypertension , Marfan syndrome , aortic dissection , and syphilis . (bionity.com)
  • This medicine should be stopped in people who experience a skin rash or other signs of allergic reaction or syndrome during treatment. (netdoctor.co.uk)
  • Recently, attention has focused on a group of inherited gene mutations in cardiac ion channels that cause long QT syndrome and carry an increased risk for sudden death. (aafp.org)
  • Some of the highest rates of inherited long QT syndrome occur in Southeast Asian and Pacific Rim countries. (aafp.org)
  • In addition to a prolonged QT interval, which occurs in some but not all persons with long QT syndrome, another characteristic electrocardiographic abnormality is the so-called Brugada sign (an upward deflection of the terminal portion of the QRS complex). (aafp.org)
  • Beta blockers, potassium supplements, and implantable defibrillators have been used for treatment of long QT syndrome. (aafp.org)
  • Identifying the specific gene mutation in a given patient with long QT syndrome can help guide prophylactic therapy. (aafp.org)
  • Angrist M, Chandrasekharan S, Heaney C, Cook-Deegan R. Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome. (springer.com)
  • CS1 maint: discouraged parameter (link) Adams, Robert (1827). (wikipedia.org)
  • Adams and Stokes both reported patients with persistent pulse rates around 30. (encyclopedia.com)
  • Liddle syndrome is an inherited form of high blood pressure ( hypertension ). (medlineplus.gov)
  • People with Liddle syndrome have high blood pressure (hypertension) and low levels of potassium in their blood (hypokalemia), often beginning in childhood. (medlineplus.gov)
  • Liddle syndrome is a rare condition, although its prevalence is unknown. (medlineplus.gov)
  • Liddle syndrome is caused by mutations in the SCNN1B or SCNN1G gene. (medlineplus.gov)
  • Rotin D. Role of the UPS in Liddle syndrome. (medlineplus.gov)
  • Identification of a PY motif in the epithelial Na channel subunits as a target sequence for mutations causing channel activation found in Liddle syndrome. (medlineplus.gov)
  • At least 5 mutations in the SCNN1G gene can cause a condition known as Liddle syndrome. (medlineplus.gov)
  • Mutations in the SCNN1G gene associated with Liddle syndrome lead to the production of an abnormally short gamma subunit protein. (medlineplus.gov)
  • Found in Sjögren's Syndrome , resulting from autoantibodies against salivary glands resulting in no salivary secretion. (kumc.edu)
  • 1 Accordingly, CPVT probably plays a significant role in autopsy negative, sudden unexplained death of young individuals, w1 and sudden infant death syndrome (ie, sudden death of an infant under 1 year of age that remains unexplained after a death scene and medicolegal investigation, including a complete autopsy and clinical history review). (bmj.com)