Silver. An element with the atomic symbol Ag, atomic number 47, and atomic weight 107.87. It is a soft metal that is used medically in surgical instruments, dental prostheses, and alloys. Long-continued use of silver salts can lead to a form of poisoning known as ARGYRIA.
A characteristic symptom complex.
A silver salt with powerful germicidal activity. It has been used topically to prevent OPHTHALMIA NEONATORUM.
Inorganic compounds that contain silver as an integral part of the molecule.
Components of the cytoplasm excluding the CYTOSOL.
The use of silver, usually silver nitrate, as a reagent for producing contrast or coloration in tissue specimens.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
An antiphospholipid antibody found in association with systemic lupus erythematosus (LUPUS ERYTHEMATOSUS, SYSTEMIC;), ANTIPHOSPHOLIPID SYNDROME; and in a variety of other diseases as well as in healthy individuals. In vitro, the antibody interferes with the conversion of prothrombin to thrombin and prolongs the partial thromboplastin time. In vivo, it exerts a procoagulant effect resulting in thrombosis mainly in the larger veins and arteries. It further causes obstetrical complications, including fetal death and spontaneous abortion, as well as a variety of hematologic and neurologic complications.
Antibacterial used topically in burn therapy.
Specialized forms of antibody-producing B-LYMPHOCYTES. They synthesize and secrete immunoglobulin. They are found only in lymphoid organs and at sites of immune responses and normally do not circulate in the blood or lymph. (Rosen et al., Dictionary of Immunology, 1989, p169 & Abbas et al., Cellular and Molecular Immunology, 2d ed, p20)
Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used.
Nanoparticles produced from metals whose uses include biosensors, optics, and catalysts. In biomedical applications the particles frequently involve the noble metals, especially gold and silver.
A generic term for any circumscribed mass of foreign (e.g., lead or viruses) or metabolically inactive materials (e.g., ceroid or MALLORY BODIES), within the cytoplasm or nucleus of a cell. Inclusion bodies are in cells infected with certain filtrable viruses, observed especially in nerve, epithelial, or endothelial cells. (Stedman, 25th ed)
Laboratory tests for evaluating the individual's clotting mechanism.
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)
Polypeptide chains, consisting of 211 to 217 amino acid residues and having a molecular weight of approximately 22 kDa. There are two major types of light chains, kappa and lambda. Two Ig light chains and two Ig heavy chains (IMMUNOGLOBULIN HEAVY CHAINS) make one immunoglobulin molecule.
Endoscopic examination, therapy or surgery of the interior of the stomach.
The area within CELLS.
Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A system of cisternae in the CYTOPLASM of many cells. In places the endoplasmic reticulum is continuous with the plasma membrane (CELL MEMBRANE) or outer membrane of the nuclear envelope. If the outer surfaces of the endoplasmic reticulum membranes are coated with ribosomes, the endoplasmic reticulum is said to be rough-surfaced (ENDOPLASMIC RETICULUM, ROUGH); otherwise it is said to be smooth-surfaced (ENDOPLASMIC RETICULUM, SMOOTH). (King & Stansfield, A Dictionary of Genetics, 4th ed)
Multi-subunit proteins which function in IMMUNITY. They are produced by B LYMPHOCYTES from the IMMUNOGLOBULIN GENES. They are comprised of two heavy (IMMUNOGLOBULIN HEAVY CHAINS) and two light chains (IMMUNOGLOBULIN LIGHT CHAINS) with additional ancillary polypeptide chains depending on their isoforms. The variety of isoforms include monomeric or polymeric forms, and transmembrane forms (B-CELL ANTIGEN RECEPTORS) or secreted forms (ANTIBODIES). They are divided by the amino acid sequence of their heavy chains into five classes (IMMUNOGLOBULIN A; IMMUNOGLOBULIN D; IMMUNOGLOBULIN E; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M) and various subclasses.
The domestic dog, Canis familiaris, comprising about 400 breeds, of the carnivore family CANIDAE. They are worldwide in distribution and live in association with people. (Walker's Mammals of the World, 5th ed, p1065)
A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)
Pollution prevention through the design of effective chemical products that have low or no toxicity and use of chemical processes that reduce or eliminate the use and generation of hazardous substances.
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.
The largest of polypeptide chains comprising immunoglobulins. They contain 450 to 600 amino acid residues per chain, and have molecular weights of 51-72 kDa.
Processes involved in the formation of TERTIARY PROTEIN STRUCTURE.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
Compounds of silver and proteins used as topical anti-infective agents.
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.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
The chromosome region which is active in nucleolus formation and which functions in the synthesis of ribosomal RNA.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A 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)
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.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
The marking of biological material with a dye or other reagent for the purpose of identifying and quantitating components of tissues, cells or their extracts.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Substances used on humans and other animals that destroy harmful microorganisms or inhibit their activity. They are distinguished from DISINFECTANTS, which are used on inanimate objects.
Relating to the size of solids.
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
Electron microscopy in which the ELECTRONS or their reaction products that pass down through the specimen are imaged below the plane of the specimen.
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.
Nanometer-scale composite structures composed of organic molecules intimately incorporated with inorganic molecules. (Glossary of Biotechnology and Nanobiotechology Terms, 4th ed)
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)
Two-phase systems in which one is uniformly dispersed in another as particles small enough so they cannot be filtered or will not settle out. The dispersing or continuous phase or medium envelops the particles of the discontinuous phase. All three states of matter can form colloids among each other.
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.
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Elements of limited time intervals, contributing to particular results or situations.
A yellow metallic element with the atomic symbol Au, atomic number 79, and atomic weight 197. It is used in jewelry, goldplating of other metals, as currency, and in dental restoration. Many of its clinical applications, such as ANTIRHEUMATIC AGENTS, are in the form of its salts.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
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.
Any of several carnivores in the family CANIDAE, that possess erect ears and long bushy tails and are smaller than WOLVES. They are classified in several genera and found on all continents except Antarctica.
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.
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.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
An infant during the first month after birth.
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.
Nanometer-scale wires made of materials that conduct electricity. They can be coated with molecules such as antibodies that will bind to proteins and other substances.
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)
Material used for wrapping or binding any part of the body.
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
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.

No evidence for mutations of CTCFL/BORIS in Silver-Russell syndrome patients with IGF2/H19 imprinting control region 1 hypomethylation. (1/22)

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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci. (2/22)

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Genomic imprinting disorders in humans: a mini-review. (3/22)

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Postnatal survival of mice with maternal duplication of distal chromosome 7 induced by a Igf2/H19 imprinting control region lacking insulator function. (4/22)

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Methylation analysis of 79 patients with growth restriction reveals novel patterns of methylation change at imprinted loci. (5/22)

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The first case of Silver-Russell syndrome accompanied by linea alba hernia in China. (6/22)

A 10-month-old Chinese boy presented with delayed motor development for seven months. Blood and biochemistry investigations revealed no abnormalities. The physical examination showed poor postnatal growth (below -2 standard deviation from the mean at diagnosis), preservation of the occipitofrontal head circumference with delayed closure of the anterior fontanel, a classical triangular facial phenotype, asymmetry of the lower extremities and other characteristic features that fulfil the diagnostic criteria of Silver-Russell syndrome clinically. As PubMed and web searches revealed no similar findings, we believe that this may be the first case of Silver-Russell syndrome with linea alba hernia and pes varus reported in China, and possibly the world. The genetic deficit responsible for this case is still under investigation.  (+info)

Lessons from imprinted multilocus loss of methylation in human syndromes: A step toward understanding the mechanisms underlying these complex diseases. (7/22)

Genomic imprinting is one of the most important epigenetic mechanisms of regulation. Faithful establishment and maintenance of imprinting during mammalian fetal development is crucial for correct fetal and postnatal development of the individual. In humans, numerous complex syndromes (including Russell Silver Syndrome and Beckwith Wiedemann syndrome) and cancers are associated with loss of imprinting (LOI) at particular loci. Over recent years, there has been increasing evidence that LOI is not only an isolated event occurring at a given locus involved in a particular syndrome, but that many patients with a given syndrome have multilocus imprinting defects affecting both parental alleles. This new evidence demonstrates that these anomalies occur during the post-fertilization period of fetal development and raises the question of what mechanisms lead to these multilocus imprinting defects. Identification of the factors involved in the maintenance and/or the establishment of imprinting is undoubtedly crucial for understanding both the mechanisms underlying imprinting regulation and which disruptions lead to these complex diseases.  (+info)

Silver-Russell syndrome: genetic basis and molecular genetic testing. (8/22)

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I'm sorry for any confusion, but "Silver" is not a medical term. It is a chemical element with the symbol Ag and atomic number 47. Silver is a soft, white, lustrous transition metal that occurs in its pure, free form (native silver) as an alloy with gold and other metals, and in minerals such as argentite and chlorargyrite.

In the medical field, silver compounds have been used for their antimicrobial properties. For example, silver sulfadiazine is a common topical cream used to prevent or treat wound infections. Colloidal silver, a suspension of silver particles in a liquid, has also been promoted as a dietary supplement and alternative treatment for various conditions, but its effectiveness and safety are not well-established.

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

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

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

Silver nitrate is defined as an inorganic compound with the chemical formula AgNO3. It is a white or colorless crystalline solid that is highly soluble in water. Silver nitrate is commonly used in medicine as a topical antiseptic and caustic, particularly for the treatment of wounds, ulcers, and warts. When applied to skin or mucous membranes, it can help to destroy bacteria, viruses, and fungi, and promote healing. However, it can also cause irritation and tissue damage if used inappropriately, so it should be used with caution and under the guidance of a healthcare professional.

Silver compounds refer to chemical substances that combine silver (Ag) with one or more other elements. In the medical context, silver compounds are known for their antimicrobial properties and have been used in various medical applications such as wound dressings, creams, and coatings on medical devices.

Some examples of silver compounds include:

* Silver sulfadiazine (AgSD): a common topical antibiotic used to prevent and treat bacterial infections in burn wounds.
* Silver nitrate (AgNO3): a strong antiseptic used to treat wounds, skin infections, and eye conditions such as neonatal conjunctivitis.
* Silver chloride (AgCl): a compound used in some wound dressings for its antimicrobial properties.
* Silver proteinate: a silver compound that is often used in dietary supplements and claimed to have immune-boosting and anti-inflammatory effects, although its efficacy is not well established.

It's important to note that while silver compounds can be effective antimicrobial agents, they can also have potential side effects such as skin irritation, discoloration, and in some cases, argyria (a bluish-gray discoloration of the skin caused by excessive accumulation of silver). Therefore, they should be used under the guidance of a healthcare professional.

Cytoplasmic structures refer to the various organelles and inclusions present within the cytoplasm of a eukaryotic cell, excluding the nucleus. These structures are involved in different cellular functions, such as energy production, protein synthesis, waste management, and intracellular transport.

Some examples of cytoplasmic structures include:

1. Mitochondria - organelles that generate energy for the cell through cellular respiration.
2. Ribosomes - complexes composed of ribosomal RNA (rRNA) and proteins that facilitate protein synthesis.
3. Endoplasmic reticulum (ER) - a network of membranous tubules involved in lipid and protein synthesis, folding, and transport.
4. Golgi apparatus - a series of stacked membrane sacs responsible for modifying, sorting, and packaging proteins and lipids for transport to their destinations.
5. Lysosomes - membrane-bound organelles that contain enzymes for breaking down waste materials, cellular debris, and foreign substances.
6. Peroxisomes - single-membrane bound organelles involved in various metabolic processes, including the breakdown of fatty acids and hydrogen peroxide detoxification.
7. Vacuoles - membrane-bound compartments that store water, nutrients, waste products, or enzymes. In plant cells, vacuoles also help maintain turgor pressure.
8. Cytoskeleton - a network of protein filaments (actin microfilaments, intermediate filaments, and microtubules) responsible for maintaining cell shape, providing structural support, and enabling intracellular transport and movement.
9. Inclusions - various membrane-less structures composed of aggregated proteins or other molecules, such as lipid droplets, glycogen granules, and pigment granules (e.g., melanosomes in melanocytes).

These cytoplasmic structures contribute to the overall functioning and maintenance of a eukaryotic cell.

"Silver staining" is a histological term that refers to a technique used to selectively stain various components of biological tissues, making them more visible under a microscope. This technique is often used in the study of histopathology and cytology. The most common type of silver staining is known as "silver impregnation," which is used to demonstrate the presence of argyrophilic structures, such as nerve fibers and neurofibrillary tangles, in tissues.

The process of silver staining involves the use of silver salts, which are reduced by a developer to form metallic silver that deposits on the tissue components. The intensity of the stain depends on the degree of reduction of the silver ions, and it can be modified by adjusting the concentration of the silver salt, the development time, and other factors.

Silver staining is widely used in diagnostic pathology to highlight various structures such as nerve fibers, axons, collagen, basement membranes, and microorganisms like fungi and bacteria. It has also been used in research to study the distribution and organization of these structures in tissues. However, it's important to note that silver staining is not specific for any particular substance, so additional tests are often needed to confirm the identity of the stained structures.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth with subsequent normalization of head circumference, a prominent forehead (frontal bossing), a small jaw (micrognathia), body asymmetry, and feeding difficulties in early life. Some individuals may also have clinodactyly (curving of the fifth finger towards the fourth), wide-spaced fifth fingers, and downturned corners of the mouth.

The genetic basis for SRS is heterogeneous, but the most common genetic abnormality associated with this syndrome is hypomethylation of the H19/IGF2:IG-DMR (imprinting control region) on chromosome 11p15.5. This region regulates the expression of two neighboring genes, IGF2 and H19, which are imprinted and expressed in a parent-of-origin-specific manner. In SRS, the hypomethylation leads to decreased IGF2 expression and increased H19 expression, which is thought to contribute to the growth retardation observed in this syndrome.

Individuals with SRS may have developmental delays, learning disabilities, and behavioral problems, although their cognitive abilities can range from normal to mildly impaired. They are also at an increased risk of developing certain medical conditions, such as low blood sugar (hypoglycemia), heart defects, kidney abnormalities, and a higher risk of childhood cancer, particularly Wilms' tumor.

Diagnosis of SRS is typically based on clinical criteria, including growth parameters, physical features, and developmental history. Genetic testing for hypomethylation at the H19/IGF2:IG-DMR region can confirm the diagnosis in many cases. Management of SRS involves a multidisciplinary approach, with interventions focused on addressing specific symptoms and promoting optimal growth and development.

I'm sorry for any confusion, but "Lupus Coagulation Inhibitor" is not a recognized medical term or concept in hematology or immunology.

Systemic Lupus Erythematosus (SLE), often referred to simply as lupus, is an autoimmune disease where the body's immune system mistakenly attacks healthy tissue. However, this does not result in a specific coagulation inhibitor.

If you're asking about lupus anticoagulants, these are antibodies that can interfere with clotting tests but paradoxically increase the risk of blood clots in vivo. They are sometimes seen in patients with SLE and other autoimmune diseases.

Please provide more context if you meant something else, so I can give a more accurate response.

Silver Sulfadiazine is a topical antimicrobial cream, primarily used for the prevention and treatment of burn wounds' infections. It has broad-spectrum activity against various bacteria, including gram-positive and gram-negative organisms, as well as some fungi. The cream creates a physical barrier that helps minimize bacterial growth and contains silver, which has antimicrobial properties. Silver Sulfadiazine is often used in combination with other burn wound care treatments to optimize healing and reduce the risk of complications such as sepsis.

The medical definition of Silver Sulfadiazine can be stated as:

A topical antimicrobial agent, chemically described as silver(I) 1-(4-amino-2-sulfonylphenyl)-2-(N-pyrimidin-2-ylsulfamoyl)ethanone dihydrate. It is primarily used for the prevention and treatment of infections associated with burn wounds due to its broad-spectrum antibacterial and antifungal properties. The compound is available as a white cream, which forms a protective layer on the wound, releasing silver ions that inhibit bacterial growth and promote healing.

Plasma cells are a type of white blood cell that are derived from B cells (another type of white blood cell) and are responsible for producing antibodies. Antibodies are proteins that help the body to fight against infections by recognizing and binding to specific antigens, such as bacteria or viruses. Plasma cells are found in the bone marrow, spleen, and lymph nodes, and they play a crucial role in the immune system's response to infection.

Plasma cells are characterized by their large size, eccentric nucleus, and abundant cytoplasm filled with rough endoplasmic reticulum, which is where antibody proteins are synthesized and stored. When activated, plasma cells can produce and secrete large amounts of antibodies into the bloodstream and lymphatic system, where they can help to neutralize or eliminate pathogens.

It's worth noting that while plasma cells play an important role in the immune response, abnormal accumulations of these cells can also be a sign of certain diseases, such as multiple myeloma, a type of cancer that affects plasma cells.

There is no medical definition for "dog diseases" as it is too broad a term. However, dogs can suffer from various health conditions and illnesses that are specific to their species or similar to those found in humans. Some common categories of dog diseases include:

1. Infectious Diseases: These are caused by viruses, bacteria, fungi, or parasites. Examples include distemper, parvovirus, kennel cough, Lyme disease, and heartworms.
2. Hereditary/Genetic Disorders: Some dogs may inherit certain genetic disorders from their parents. Examples include hip dysplasia, elbow dysplasia, progressive retinal atrophy (PRA), and degenerative myelopathy.
3. Age-Related Diseases: As dogs age, they become more susceptible to various health issues. Common age-related diseases in dogs include arthritis, dental disease, cancer, and cognitive dysfunction syndrome (CDS).
4. Nutritional Disorders: Malnutrition or improper feeding can lead to various health problems in dogs. Examples include obesity, malnutrition, and vitamin deficiencies.
5. Environmental Diseases: These are caused by exposure to environmental factors such as toxins, allergens, or extreme temperatures. Examples include heatstroke, frostbite, and toxicities from ingesting harmful substances.
6. Neurological Disorders: Dogs can suffer from various neurological conditions that affect their nervous system. Examples include epilepsy, intervertebral disc disease (IVDD), and vestibular disease.
7. Behavioral Disorders: Some dogs may develop behavioral issues due to various factors such as anxiety, fear, or aggression. Examples include separation anxiety, noise phobias, and resource guarding.

It's important to note that regular veterinary care, proper nutrition, exercise, and preventative measures can help reduce the risk of many dog diseases.

Medical definitions generally refer to terms and concepts within the medical field. The term "metal nanoparticles" is more commonly used in materials science, chemistry, and physics. However, I can provide a general scientific definition that could be relevant to medical applications:

Metal nanoparticles are tiny particles with at least one dimension ranging from 1 to 100 nanometers (nm), composed of metals or metal compounds. They have unique optical, electronic, and chemical properties due to their small size and high surface-to-volume ratio, making them useful in various fields, including medical research. In medicine, metal nanoparticles can be used in drug delivery systems, diagnostics, and therapeutic applications such as photothermal therapy and radiation therapy. Examples of metals used for nanoparticle synthesis include gold, silver, and iron.

Inclusion bodies are abnormal, intracellular accumulations or aggregations of various misfolded proteins, protein complexes, or other materials within the cells of an organism. They can be found in various tissues and cell types and are often associated with several pathological conditions, including infectious diseases, neurodegenerative disorders, and genetic diseases.

Inclusion bodies can vary in size, shape, and location depending on the specific disease or condition. Some inclusion bodies have a characteristic appearance under the microscope, such as eosinophilic (pink) staining with hematoxylin and eosin (H&E) histological stain, while others may require specialized stains or immunohistochemical techniques to identify the specific misfolded proteins involved.

Examples of diseases associated with inclusion bodies include:

1. Infectious diseases: Some viral infections, such as HIV, hepatitis B and C, and herpes simplex virus, can lead to the formation of inclusion bodies within infected cells.
2. Neurodegenerative disorders: Several neurodegenerative diseases are characterized by the presence of inclusion bodies, including Alzheimer's disease (amyloid-beta plaques and tau tangles), Parkinson's disease (Lewy bodies), Huntington's disease (Huntingtin aggregates), and amyotrophic lateral sclerosis (TDP-43 and SOD1 inclusions).
3. Genetic diseases: Certain genetic disorders, such as Danon disease, neuronal intranuclear inclusion disease, and some lysosomal storage disorders, can also present with inclusion bodies due to the accumulation of abnormal proteins or metabolic products within cells.

The exact role of inclusion bodies in disease pathogenesis remains unclear; however, they are often associated with cellular dysfunction, oxidative stress, and increased inflammation, which can contribute to disease progression and neurodegeneration.

Blood coagulation tests, also known as coagulation studies or clotting tests, are a series of medical tests used to evaluate the blood's ability to clot. These tests measure the functioning of various clotting factors and regulatory proteins involved in the coagulation cascade, which is a complex process that leads to the formation of a blood clot to prevent excessive bleeding.

The most commonly performed coagulation tests include:

1. Prothrombin Time (PT): Measures the time it takes for a sample of plasma to clot after the addition of calcium and tissue factor, which activates the extrinsic pathway of coagulation. The PT is reported in seconds and can be converted to an International Normalized Ratio (INR) to monitor anticoagulant therapy.
2. Activated Partial Thromboplastin Time (aPTT): Measures the time it takes for a sample of plasma to clot after the addition of calcium, phospholipid, and a contact activator, which activates the intrinsic pathway of coagulation. The aPTT is reported in seconds and is used to monitor heparin therapy.
3. Thrombin Time (TT): Measures the time it takes for a sample of plasma to clot after the addition of thrombin, which directly converts fibrinogen to fibrin. The TT is reported in seconds and can be used to detect the presence of fibrin degradation products or abnormalities in fibrinogen function.
4. Fibrinogen Level: Measures the amount of fibrinogen, a protein involved in clot formation, present in the blood. The level is reported in grams per liter (g/L) and can be used to assess bleeding risk or the effectiveness of fibrinogen replacement therapy.
5. D-dimer Level: Measures the amount of D-dimer, a protein fragment produced during the breakdown of a blood clot, present in the blood. The level is reported in micrograms per milliliter (µg/mL) and can be used to diagnose or exclude venous thromboembolism (VTE), such as deep vein thrombosis (DVT) or pulmonary embolism (PE).

These tests are important for the diagnosis, management, and monitoring of various bleeding and clotting disorders. They can help identify the underlying cause of abnormal bleeding or clotting, guide appropriate treatment decisions, and monitor the effectiveness of therapy. It is essential to interpret these test results in conjunction with a patient's clinical presentation and medical history.

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

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

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

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

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

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

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

Immunoglobulin light chains are the smaller protein subunits of an immunoglobulin, also known as an antibody. They are composed of two polypeptide chains, called kappa (κ) and lambda (λ), which are produced by B cells during the immune response. Each immunoglobulin molecule contains either two kappa or two lambda light chains, in association with two heavy chains.

Light chains play a crucial role in the antigen-binding site of an antibody, where they contribute to the specificity and affinity of the interaction between the antibody and its target antigen. In addition to their role in immune function, abnormal production or accumulation of light chains can lead to various diseases, such as multiple myeloma and amyloidosis.

Gastroscopy is a medical procedure that involves the insertion of a gastroscope, which is a thin, flexible tube with a camera and light on the end, through the mouth and into the digestive tract. The gastroscope allows the doctor to visually examine the lining of the esophagus, stomach, and duodenum (the first part of the small intestine) for any abnormalities such as inflammation, ulcers, or tumors.

The procedure is usually performed under sedation to minimize discomfort, and it typically takes only a few minutes to complete. Gastroscopy can help diagnose various conditions, including gastroesophageal reflux disease (GERD), gastritis, stomach ulcers, and Barrett's esophagus. It can also be used to take tissue samples for biopsy or to treat certain conditions, such as bleeding or the removal of polyps.

The intracellular space refers to the interior of a cell, specifically the area enclosed by the plasma membrane that is occupied by organelles, cytoplasm, and other cellular structures. It excludes the extracellular space, which is the area outside the cell surrounded by the plasma membrane. The intracellular space is where various metabolic processes, such as protein synthesis, energy production, and waste removal, occur. It is essential for maintaining the cell's structure, function, and survival.

Gastritis is a medical condition characterized by inflammation of the lining of the stomach. It can be caused by various factors, including bacterial infections (such as Helicobacter pylori), regular use of nonsteroidal anti-inflammatory drugs (NSAIDs), excessive alcohol consumption, and stress.

Gastritis can present with a range of symptoms, such as abdominal pain or discomfort, nausea, vomiting, loss of appetite, and bloating. In some cases, gastritis may not cause any noticeable symptoms. Depending on the severity and duration of inflammation, gastritis can lead to complications like stomach ulcers or even stomach cancer if left untreated.

There are two main types of gastritis: acute and chronic. Acute gastritis develops suddenly and may last for a short period, while chronic gastritis persists over time, often leading to atrophy of the stomach lining. Diagnosis typically involves endoscopy and tissue biopsy to assess the extent of inflammation and rule out other potential causes of symptoms. Treatment options depend on the underlying cause but may include antibiotics, proton pump inhibitors, or lifestyle modifications.

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

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

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

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

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

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

The endoplasmic reticulum (ER) is a network of interconnected tubules and sacs that are present in the cytoplasm of eukaryotic cells. It is a continuous membranous organelle that plays a crucial role in the synthesis, folding, modification, and transport of proteins and lipids.

The ER has two main types: rough endoplasmic reticulum (RER) and smooth endoplasmic reticulum (SER). RER is covered with ribosomes, which give it a rough appearance, and is responsible for protein synthesis. On the other hand, SER lacks ribosomes and is involved in lipid synthesis, drug detoxification, calcium homeostasis, and steroid hormone production.

In summary, the endoplasmic reticulum is a vital organelle that functions in various cellular processes, including protein and lipid metabolism, calcium regulation, and detoxification.

Immunoglobulins (Igs), also known as antibodies, are glycoprotein molecules produced by the immune system's B cells in response to the presence of foreign substances, such as bacteria, viruses, and toxins. These Y-shaped proteins play a crucial role in identifying and neutralizing pathogens and other antigens, thereby protecting the body against infection and disease.

Immunoglobulins are composed of four polypeptide chains: two identical heavy chains and two identical light chains, held together by disulfide bonds. The variable regions of these chains form the antigen-binding sites, which recognize and bind to specific epitopes on antigens. Based on their heavy chain type, immunoglobulins are classified into five main isotypes or classes: IgA, IgD, IgE, IgG, and IgM. Each class has distinct functions in the immune response, such as providing protection in different body fluids and tissues, mediating hypersensitivity reactions, and aiding in the development of immunological memory.

In medical settings, immunoglobulins can be administered therapeutically to provide passive immunity against certain diseases or to treat immune deficiencies, autoimmune disorders, and other conditions that may benefit from immunomodulation.

I believe there might be a misunderstanding in your question. "Dogs" is not a medical term or condition. It is the common name for a domesticated carnivore of the family Canidae, specifically the genus Canis, which includes wolves, foxes, and other extant and extinct species of mammals. Dogs are often kept as pets and companions, and they have been bred in a wide variety of forms and sizes for different purposes, such as hunting, herding, guarding, assisting police and military forces, and providing companionship and emotional support.

If you meant to ask about a specific medical condition or term related to dogs, please provide more context so I can give you an accurate answer.

Argyria is a rare, cosmetic condition that results from excessive exposure to silver and its compounds, leading to the accumulation of silver particles in various tissues of the body, particularly the skin. The most noticeable symptom of argyria is the development of a blue-gray or slate-gray discoloration of the skin, mucous membranes, and eyes. This condition is usually permanent and not harmful to one's health, but it can cause significant psychological distress due to its impact on appearance.

The primary causes of argyria are long-term use or misuse of silver-containing medications, dietary supplements, or topical products that contain silver compounds like silver nitrate, silver sulfadiazine, and colloidal silver. Prolonged exposure to silver dust in occupational settings can also lead to argyria.

It is important to note that argyria should not be confused with generalized silver toxicity or acute silver poisoning, which can have more severe health consequences.

"Green Chemistry Technology," also known as "Sustainable Chemistry," refers to the design of chemical products and processes that reduce or eliminate the use and generation of hazardous substances. It aims to minimize negative impacts on human health and the environment, while maximizing economic benefits. This is achieved through the application of principles such as preventing waste, designing safer chemicals, using renewable feedstocks, and minimizing energy use. Green Chemistry Technology involves the development and implementation of novel chemical reactions, catalysts, and processes that are inherently safer and more environmentally benign than traditional methods.

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

Immunoglobulin heavy chains are proteins that make up the framework of antibodies, which are Y-shaped immune proteins. These heavy chains, along with light chains, form the antigen-binding sites of an antibody, which recognize and bind to specific foreign substances (antigens) in order to neutralize or remove them from the body.

The heavy chain is composed of a variable region, which contains the antigen-binding site, and constant regions that determine the class and function of the antibody. There are five classes of immunoglobulins (IgA, IgD, IgE, IgG, and IgM) that differ in their heavy chain constant regions and therefore have different functions in the immune response.

Immunoglobulin heavy chains are synthesized by B cells, a type of white blood cell involved in the adaptive immune response. The genetic rearrangement of immunoglobulin heavy chain genes during B cell development results in the production of a vast array of different antibodies with unique antigen-binding sites, allowing for the recognition and elimination of a wide variety of pathogens.

Protein folding is the process by which a protein molecule naturally folds into its three-dimensional structure, following the synthesis of its amino acid chain. This complex process is determined by the sequence and properties of the amino acids, as well as various environmental factors such as temperature, pH, and the presence of molecular chaperones. The final folded conformation of a protein is crucial for its proper function, as it enables the formation of specific interactions between different parts of the molecule, which in turn define its biological activity. Protein misfolding can lead to various diseases, including neurodegenerative disorders such as Alzheimer's and Parkinson's disease.

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

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

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

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

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

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

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

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

The symptoms of Cushing syndrome may include:

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

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

Silver proteins are a type of compound that consists of silver ions (Ag+) bonded to protein molecules. These compounds are often used in medical applications, including topical creams and ointments, for their antimicrobial properties. The silver ions in the compound can help to kill or inhibit the growth of a wide range of microorganisms, including bacteria, fungi, and viruses.

The protein component of silver proteins helps to stabilize the silver ions and control their release, which can improve the efficacy and safety of the product. The protein may also help to enhance the penetration of the silver ions into the skin or other tissues, allowing for more effective killing of microorganisms.

Silver proteins are used in a variety of medical products, including wound dressings, creams and gels for the treatment of burns and other types of wounds, and as a coating on medical devices to prevent infection. They have been shown to be effective against a wide range of microorganisms, including antibiotic-resistant strains, making them a valuable tool in the fight against infectious diseases.

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

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

There are three main types of ACS:

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

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

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

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

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

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

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

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

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

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

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

The classic triad of symptoms includes:

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The Nucleolus Organizer Region (NOR) is a specific region within the chromosomes, primarily in the short arm of the acrocentric chromosomes (chromosomes 13, 14, 15, 21, and 22). It consists of clusters of repetitive DNA sequences that encode ribosomal RNA (rRNA) genes. During interphase, these regions form the nucleolus, a distinct structure within the nucleus where rRNA transcription, processing, and ribosome assembly occur. The number of NORs in an individual can vary, which has implications in certain genetic conditions and aging processes.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

The symptoms typically include:

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

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

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

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

The clinical features of Job Syndrome include:

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

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

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

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

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

The clinical features of WAS include:

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

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

'Staining and labeling' are techniques commonly used in pathology, histology, cytology, and molecular biology to highlight or identify specific components or structures within tissues, cells, or molecules. These methods enable researchers and medical professionals to visualize and analyze the distribution, localization, and interaction of biological entities, contributing to a better understanding of diseases, cellular processes, and potential therapeutic targets.

Medical definitions for 'staining' and 'labeling' are as follows:

1. Staining: A process that involves applying dyes or stains to tissues, cells, or molecules to enhance their contrast and reveal specific structures or components. Stains can be categorized into basic stains (which highlight acidic structures) and acidic stains (which highlight basic structures). Common staining techniques include Hematoxylin and Eosin (H&E), which differentiates cell nuclei from the surrounding cytoplasm and extracellular matrix; special stains, such as PAS (Periodic Acid-Schiff) for carbohydrates or Masson's trichrome for collagen fibers; and immunostains, which use antibodies to target specific proteins.
2. Labeling: A process that involves attaching a detectable marker or tag to a molecule of interest, allowing its identification, quantification, or tracking within a biological system. Labels can be direct, where the marker is directly conjugated to the targeting molecule, or indirect, where an intermediate linker molecule is used to attach the label to the target. Common labeling techniques include fluorescent labels (such as FITC, TRITC, or Alexa Fluor), enzymatic labels (such as horseradish peroxidase or alkaline phosphatase), and radioactive labels (such as ³²P or ¹⁴C). Labeling is often used in conjunction with staining techniques to enhance the specificity and sensitivity of detection.

Together, staining and labeling provide valuable tools for medical research, diagnostics, and therapeutic development, offering insights into cellular and molecular processes that underlie health and disease.

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

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

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

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

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

The medical definition of Sweet syndrome includes the following criteria:

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

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

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

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

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

Some examples of these opportunistic infections and cancers include:

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

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

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

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

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

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

Anti-infective agents, local, are medications that are applied directly to a specific area of the body to prevent or treat infections caused by bacteria, fungi, viruses, or parasites. These agents include topical antibiotics, antifungals, antivirals, and anti-parasitic drugs. They work by killing or inhibiting the growth of the infectious organisms, thereby preventing their spread and reducing the risk of infection. Local anti-infective agents are often used to treat skin infections, eye infections, and other localized infections, and can be administered as creams, ointments, gels, solutions, or drops.

In the context of medical and health sciences, particle size generally refers to the diameter or dimension of particles, which can be in the form of solid particles, droplets, or aerosols. These particles may include airborne pollutants, pharmaceutical drugs, or medical devices such as nanoparticles used in drug delivery systems.

Particle size is an important factor to consider in various medical applications because it can affect the behavior and interactions of particles with biological systems. For example, smaller particle sizes can lead to greater absorption and distribution throughout the body, while larger particle sizes may be filtered out by the body's natural defense mechanisms. Therefore, understanding particle size and its implications is crucial for optimizing the safety and efficacy of medical treatments and interventions.

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

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

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

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

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

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

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

Transmission electron microscopy (TEM) is a type of microscopy in which an electron beam is transmitted through a ultra-thin specimen, interacting with it as it passes through. An image is formed from the interaction of the electrons with the specimen; the image is then magnified and visualized on a fluorescent screen or recorded on an electronic detector (or photographic film in older models).

TEM can provide high-resolution, high-magnification images that can reveal the internal structure of specimens including cells, viruses, and even molecules. It is widely used in biological and materials science research to investigate the ultrastructure of cells, tissues and materials. In medicine, TEM is used for diagnostic purposes in fields such as virology and bacteriology.

It's important to note that preparing a sample for TEM is a complex process, requiring specialized techniques to create thin (50-100 nm) specimens. These include cutting ultrathin sections of embedded samples using an ultramicrotome, staining with heavy metal salts, and positive staining or negative staining methods.

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

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

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

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

I'm sorry for any confusion, but "nanocomposites" is not a term that has a specific medical definition. It is a term used in materials science and engineering to refer to a type of composite material where at least one of the phases has dimensions in the nanoscale (typically less than 100 nanometers). Nanocomposites can have unique properties that make them useful for various applications, including biomedical applications such as drug delivery systems or tissue engineering scaffolds. However, the term itself is not a medical definition.

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

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

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

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

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

Colloids are a type of mixture that contains particles that are intermediate in size between those found in solutions and suspensions. These particles range in size from about 1 to 1000 nanometers in diameter, which is smaller than what can be seen with the naked eye, but larger than the molecules in a solution.

Colloids are created when one substance, called the dispersed phase, is dispersed in another substance, called the continuous phase. The dispersed phase can consist of particles such as proteins, emulsified fats, or finely divided solids, while the continuous phase is usually a liquid, but can also be a gas or a solid.

Colloids are important in many areas of medicine and biology, including drug delivery, diagnostic imaging, and tissue engineering. They are also found in nature, such as in milk, blood, and fog. The properties of colloids can be affected by factors such as pH, temperature, and the presence of other substances, which can influence their stability and behavior.

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

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

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

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

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

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

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

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

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

I believe there may be some confusion in your question. Gold is typically a chemical element with the symbol Au and atomic number 79. It is a dense, soft, malleable, and ductile metal. It is one of the least reactive chemical elements and is solid under standard conditions.

However, if you are referring to "Gold" in the context of medical terminology, it may refer to:

1. Gold salts: These are a group of compounds that contain gold and are used in medicine for their anti-inflammatory properties. They have been used in the treatment of rheumatoid arthritis, although they have largely been replaced by newer drugs with fewer side effects.
2. Gold implants: In some cases, a small amount of gold may be surgically implanted into the eye to treat conditions such as age-related macular degeneration or diabetic retinopathy. The gold helps to hold the retina in place and can improve vision in some patients.
3. Gold thread embedment: This is an alternative therapy used in traditional Chinese medicine, where gold threads are embedded into the skin or acupuncture points for therapeutic purposes. However, there is limited scientific evidence to support its effectiveness.

I hope this information helps! If you have any further questions, please let me know.

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

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

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

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

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

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

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

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

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

Medical Definition:

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

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

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

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

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

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

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

Additional findings in BWS can include:

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

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

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

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

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

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

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

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

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

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

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

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

I'm sorry for any confusion, but "Foxes" is not a term that has a widely accepted or specific medical definition. The common fox (Vulpes vulpes) is a species of small omnivorous mammals, and while there can be medical issues related to foxes or other animals in certain contexts, such as zoonotic diseases, "Foxes" itself does not have a medical connotation. If you have any specific medical query, I'd be happy to try and help with that.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

I'm sorry for any confusion, but "nanowires" is not a medical term. It is a term used in the field of materials science and nanotechnology. Nanowires are one-dimensional structures with a diameter of 1-100 nanometers (nm) and an aspect ratio (length/diameter) greater than 1000. They have unique electrical, mechanical, and optical properties that make them useful in various applications such as electronics, sensors, energy storage, and biomedical devices.

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

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

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

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

A bandage is a medical dressing or covering applied to a wound, injury, or sore with the intention of promoting healing or preventing infection. Bandages can be made of a variety of materials such as gauze, cotton, elastic, or adhesive tape and come in different sizes and shapes to accommodate various body parts. They can also have additional features like fasteners, non-slip surfaces, or transparent windows for monitoring the condition of the wound.

Bandages serve several purposes, including:

1. Absorbing drainage or exudate from the wound
2. Protecting the wound from external contaminants and bacteria
3. Securing other medical devices such as catheters or splints in place
4. Reducing swelling or promoting immobilization of the affected area
5. Providing compression to control bleeding or prevent fluid accumulation
6. Relieving pain by reducing pressure on sensitive nerves or structures.

Proper application and care of bandages are essential for effective wound healing and prevention of complications such as infection or delayed recovery.

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

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

Symptoms of Short Bowel Syndrome include:

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

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

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

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

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

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

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

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

In the United States it is usually referred to as Russell-Silver syndrome (RSS), and Silver-Russell syndrome elsewhere. It is ... Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism, is a rare congenital growth disorder. ... It is named for Henry Silver and Alexander Russell. Gilbert, Patricia (1996). "Silver-Russell Syndrome". The A-Z Reference Book ... Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver-Russell syndrome may be associated with the use of assisted ...
Silver-Russell syndrome List of cutaneous conditions Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). ... Leschke syndrome is a condition characterized by growth retardation and intellectual disability. The syndrome is named after ...
Another growth disorder, Russell-Silver syndrome, is named in part after him. He was the co-author of a 1990 study which ... "Silver-Russell Syndrome". Swedish Information Centre for Rare Diseases. Retrieved May 11, 2013. "The High Cost of Doctoring". ... Silver had a son, Andrew, and a wife, Harriet. Silver died of cancer in January 1991 at University Hospital in Denver. Landau, ... In 1957, Silver joined the University of Colorado School of Medicine. From 1978 to his death, Silver served as the medical ...
Silver-Russell syndrome List of cutaneous conditions Rapini RP, Bolognia JL, Jorizzo JL (2007). Dermatology: 2-Volume Set. St. ... SNUB syndrome may be considered part of the broader category of epidermal nevus syndromes, which is described as the presence ... Because of the rarity of SNUB syndrome, diagnostic methods for this particular syndrome have not been thoroughly described in ... Supernumerary nipples-uropathies-Becker's nevus syndrome (also known as "SNUB syndrome") is a skin condition that may be ...
... such as Silver-Russell syndrome. Molecular diagnostics are used to identify infectious diseases such as chlamydia, influenza ... "Epigenetic and genetic diagnosis of Silver-Russell syndrome". Expert Review of Molecular Diagnostics. 12 (5): 459-71. doi: ... For example, Lynch syndrome is a genetic disease that predisposes patients to colorectal and other cancers; early detection can ... Advances in molecular biology have helped show that some syndromes that were previously classed as a single disease are ...
Ramírez-Dueñas ML, Medina C, Ocampo-Campos R, Rivera H (1992). "Severe Silver-Russell syndrome and translocation (17;20) (q25; ... 1993). "Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site ...
"Molecular genetic studies of human chromosome 7 in Russell-Silver syndrome". Genomics. 79 (2): 186-96. doi:10.1006/geno. ...
"Chromosomal rearrangements in patients with clinical features of Silver-Russell syndrome". American Journal of Medical Genetics ... "The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth". European Journal of Human Genetics. 19 ... "Refinement of the 12q14 microdeletion syndrome: primordial dwarfism and developmental delay with or without osteopoikilosis". ...
Other conditions involving imprinting include Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and ... Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15). This ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... Paternal inheritance of a deletion of this region is associated with Prader-Willi syndrome (characterised by hypotonia, obesity ...
MESTIT1 is unlikely to cause Russell-Silver syndrome as there is a lack of mutations in this gene in Russell-Silver syndrome ... 1998). "Evidence against a major role of PEG1/MEST in Silver-Russell syndrome". Eur J Hum Genet. 6 (2): 114-120. doi:10.1038/sj ... 2001). "No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients". Am J Med Genet. 104 (3): 225-231. doi: ... Meyer E, Wollmann HA, Eggermann T (2003). "Searching for genomic variants in the MESTIT1 transcript in Silver-Russell syndrome ...
1998). "Evidence against a major role of PEG1/MEST in Silver-Russell syndrome". Eur. J. Hum. Genet. 6 (2): 114-20. doi:10.1038/ ... 2002). "No evidence of PEG1/MEST gene mutations in Silver-Russell syndrome patients". Am. J. Med. Genet. 104 (3): 225-31. doi: ... 2000). "Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression". Clin. Dysmorphol. 9 ( ...
Neila's daughter has Silver-Russell syndrome, which causes daily seizures and painful spasms. Each imported ampoule of ...
"Screening for genomic variants in ZFP57 in Silver-Russell syndrome patients with 11p15 epimutations". Eur J Med Genet. 52 (6): ...
2002). "Characterisation of the growth regulating gene IMP3, a candidate for Silver-Russell syndrome". J. Med. Genet. 39 (8): ...
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. ... acmg.net.{{cite journal}}: CS1 maint: multiple names: authors list (link) Silver, H. K.; Kiyasu, W.; George, J.; Deamer, W. C ... Some of the other syndromes associated with hemihyperplasia may also follow this tumor-surveillance protocol. The recommended ... 1953). "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins". Pediatrics. 12 (4): ...
Russell-Silver Syndrome, caused by abnormal lack of methylation in the paternal ICE region, causing Igf2 repression. Symptoms ... "Russel Silver Syndrome". Genetics Home Reference. US National Library of Medicine. April 2008. "Prader Willi Syndrome". ... ICF syndrome, caused by a mutation in the DNA methyltransferase 3b gene or DNA hypomethylation, which causes lack of DNA ... Prader-Willi Syndrome, caused by missing paternal expression of the region which UBE3A expression inhibits. Symptoms include ...
... maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver-Russell syndrome". European Journal of ... Bardet-Biedl syndrome Cartilage-hair hypoplasia Congenital central hypoventilation syndrome MEN2 Mowat-Wilson syndrome Smith- ... Lemli-Opitz syndrome Trisomy 21 (Down syndrome) Some forms of Waardenburg syndrome The disorder may occur by itself or in ... The disorder may occur by itself or in association with other genetic disorders such as Down syndrome or Waardenburg syndrome. ...
"Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome ... or Silver-Russell syndrome (when both alleles have the maternal type of insulated neighborhood). Insulated neighborhoods aid in ... at an imprinted CTCF-binding site near IGF2/H19 form aberrant Insulated Neighborhoods and develop Beckwith-Wiedemann syndrome ( ...
2009). "Diagnosis of Russell-Silver syndrome by the combined bisulfite restriction analysis-denaturing high-performance liquid ... denaturing high performance liquid chromatography in the diagnosis of the genetic imprinting disorder Russell-Silver syndrome ... syndrome, and characterizing DNA methylation patterns in the genome during development in mammals" (PDF). European Journal of ...
... but has also been described in Russell-Silver syndrome and Turner syndrome. Page 82 in: Elizabeth D Agabegi; Agabegi, Steven S ...
... an imprinted candidate for Silver-Russell syndrome". J. Med. Genet. 40 (4): 249-56. doi:10.1136/jmg.40.4.249. PMC 1735416. PMID ...
... an imprinted candidate for Silver-Russell syndrome". J. Med. Genet. 40 (4): 249-56. doi:10.1136/jmg.40.4.249. PMC 1735416. PMID ...
... developed by Tilghman and Bartolomei helped to identify that it was genetic mutations on H19 that cause Silver-Russell syndrome ... Microdeletions on the H19 ICR have been associated with Beckwith-Wiedemann syndrome. As a postdoc Bartolomei showed that DNA ... 1 June 2001). "Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta)". ...
... as well as Silver-Russell syndrome. Epigenetics deregulations at H19 imprinted gene in sperm have been observed associated with ... H19 is also known as BWS because aberrant H19 expression can be involved in Beckwith-Wiedemann Syndrome ("BWS"), ...
... except in the case of Russell-Silver syndrome (RSS). Individuals with RSS respond favorably to growth hormone treatment. ... Mutations in this gene have been implicated in Seckel syndrome. Since primordial dwarfism disorders are extremely rare, ...
UniProtKB - Q96G97 (BSCL2_HUMAN) Common Therapies in Lipodystrophy Treatment Silver-Russell syndrome Endoplasmic Reticulum ... Additionally, mutations of BSCL2 have been recently linked to the Silver-Syndrome and Celia's Encephalopathy. The seipin gene ... Silver syndrome and autosomal-dominant distal hereditary motor neuropathy type V. CGL (congenital generalized lipodystrophy) is ... "BSCL2 N88S mutation in a Portuguese patient with the Silver syndrome". Muscle & Nerve. 51 (3): 456-8. doi:10.1002/mus.24455. ...
Shwachman-Diamond syndrome Schizophrenia[citation needed] Silver-Russell syndrome Specific language impairment Tritanopia or ... Eggermann T, Begemann M, Binder G, Spengler S (2010). "Silver-Russell syndrome: genetic basis and molecular genetic testing". ... Ehlers-Danlos syndrome hemochromatosis, type 3 Hereditary nonpolyposis colorectal cancer HNPCC4 Lissencephaly syndrome, norman- ... mucopolysaccharidosis type VII or Sly syndrome Muscular dystrophy, limb-girdle, type 1D myelodysplastic syndrome Myotonia ...
... a scientific and professional body for statisticians in the UK Russell-Silver syndrome, a form of dwarfism Recombination signal ...
Adrenal tumors Germ cell tumor Congenital adrenal hyperplasia McCune-Albright syndrome Silver-Russell syndrome Familial male- ... It is located on human chromosome 15 on the long arm in the Prader-Willi syndrome critical region2, and has since been ... Males and females are hyper-feminized by the syndrome. The "opposite" case would be the hyper-masculinisation of both male and ... Thus, in the aromatase excess syndrome the precocious puberty is isosexual in females and heterosexual in males, whilst in the ...
... syndrome Focal dermal hypoplasia Silver-Russell syndrome Williams syndrome Gorlin-Chaudhry-Moss syndrome Coffin-Siris syndrome ... Congenital hypopituitarism Ectodermal dysplasia Down syndrome Ionizing radiation to the jaws during tooth development ( ... neuroectodermal and dermo-odontodysplasia syndromes. Unerupted microdonts may require surgical removal to prevent the formation ... odontogenesis) Chemotherapy during tooth development Marshall syndrome Rieger ...
In the United States it is usually referred to as Russell-Silver syndrome (RSS), and Silver-Russell syndrome elsewhere. It is ... Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism, is a rare congenital growth disorder. ... It is named for Henry Silver and Alexander Russell. Gilbert, Patricia (1996). "Silver-Russell Syndrome". The A-Z Reference Book ... Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver-Russell syndrome may be associated with the use of assisted ...
... originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in 1954. The first reports were in ... encoded search term (Silver-Russell Syndrome) and Silver-Russell Syndrome What to Read Next on Medscape ... Silver-Russell syndrome (SRS) originally was described by Silver and colleagues in 1953 and, soon afterwards, by Russell in ... new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. Hum Mol Genet. 2012 Jan ...
... J Clin Endocrinol Metab. ... Context: Around 50% of children with Silver-Russell syndrome (SRS) carry a hypomethylation of the imprinting control region 1 ...
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 is a genetic malformation syndrome with short ... Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7. Disease definition ...
Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients ... Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients ...
The Silver Russell Syndrome Global Alliance Launches its new web site 24th August 2016 Please help us by publicising this web ... The Silver Russell Syndrome Global Alliance is an umbrella organization composed of parent-support organizations from around ... Diagnosis and management of Russell-Silver Syndrome: First international concensus statement 9th September 2016 Following on ... the world along with key medical specialists experienced in treating Silver Russell Syndrome. The Alliances primary mission is ...
Phone: (+1) 949-248-RARE (7273). Global Genes 501c3 - EIN: 26-3331487. ...
The Silver Russell Syndrome Global Alliance Launches its new web site 24th August 2016 Please help us by publicising this web ... The Silver Russell Syndrome Global Alliance is an umbrella organization composed of parent-support organizations from around ... Diagnosis and management of Russell-Silver Syndrome: First international concensus statement 9th September 2016 Following on ... the world along with key medical specialists experienced in treating Silver Russell Syndrome. The Alliances primary mission is ...
Russell-Silver syndrome is a rare birth defect which causes decreased growth of the fetus and infant/child leading to short ... Russell-Silver Syndrome. Share Tweet Email Print What is Russell-Silver syndrome?. Russell-Silver syndrome (or Silver-Russell ... How is Russell-Silver syndrome diagnosed?. In most cases, the diagnosis can be made based on the physical exam and X-rays; ... Most children with Russell-Silver syndrome have hemihypertrophy, or larger asymmetric growth on one side of the body compared ...
Russell-Silver syndrome. Abnormalities involving the inheritance of chromosome 7 can cause Russell-Silver syndrome, a rare ... In 7 percent to 10 percent of cases of Russell-Silver syndrome, people inherit both copies of chromosome 7 from their mother ( ... The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. doi: 10.1136/jmg.2007.053017. Epub 2007 ... which is described in more detail with Russell-Silver syndrome, below). It remains unclear how having two maternal copies of ...
Russell Silver syndrome is a rarely diagnosed condition that causes growth and development delays. Learn how to recognize the ... What is Russell Silver syndrome?. Russell Silver syndrome (RSS) is an extremely rare congenital condition characterized by ... Russell Silver Syndrome Causes. RSS is a genetic disorder that affects certain genes that control your childs growth. Most ... Russell Silver Syndrome Symptoms. Most symptoms of RSS are present at birth, with others developing during early childhood. ...
We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo ... Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype ... Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal ... can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome ...
Bartholdi et al reported a clinical score for evaluating a patient for Silver-Russell Syndrome (SRS). The authors are from the ... Bartholdi et al reported a clinical score for evaluating a patient for Silver-Russell Syndrome (SRS). The authors are from the ...
Hand radiographs in Russell-Silver syndrome. / Herman, T. E.; Crawford, J. D.; Cleveland, R. H. et al. In: Pediatrics, Vol. 79 ... Herman, T. E., Crawford, J. D., Cleveland, R. H., & Kushner, D. C. (1987). Hand radiographs in Russell-Silver syndrome. ... Herman, TE, Crawford, JD, Cleveland, RH & Kushner, DC 1987, Hand radiographs in Russell-Silver syndrome, Pediatrics, vol. 79 ... Hand radiographs in Russell-Silver syndrome. In: Pediatrics. 1987 ; Vol. 79, No. 5. pp. 743-744. ...
Patients with Russell-Silver Syndrome are a challenge to the anaesthetist because of the variety of anomalies. Appropriate ...
Other conditions involving imprinting include Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and ... Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15). This ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ... Paternal inheritance of a deletion of this region is associated with Prader-Willi syndrome (characterised by hypotonia, obesity ...
Treated for RussellSilver syndrome. Unremarkable. Recent breast implants. Unremarkable. Leukocyte count, cells/mm3. 2. 2. 10. ...
Experience in patients with Silver-Russell syndrome is limited.. Some of the height gain obtained with treating short children ... Prader-Willi syndrome In patients with Prader-Willi syndrome, treatment should always be in combination with a calorie- ... Prader-Willi syndrome, for improvement of growth and body composition in children: Generally a dose of 0.035 mg/kg body weight ... Growth disturbance due to Turner syndrome: A dose of 0.045 - 0.050 mg/kg body weight per day or 1.4 mg/m2 body surface area per ...
Ophthalmological findings in children and adolescents with silver-russell syndrome. Br J Ophthalmol 2011;95:637-41.doi:10.1136/ ... and Silver-Russell syndrome (SRS) (n=16) and in controls (n=65). Children with FASD were drawn from a population-based study of ... and 16 children with Silver-Russell syndrome (SRS). Among children with ADHD none was born prematurely or small for gestational ... Diagnosis of fetal alcohol syndrome (fas): German guideline version 2013. Eur J Paediatr Neurol 2013;17:437-46.doi:10.1016/j. ...
11p15 imprinting center region 1 loss of methylation is a common and specific cause of typical Russell-Silver syndrome: ... Epigenotype-phenotype correlations in Silver-Russell syndrome. J Med Genet 2010;47:760-8. ... 6 and Russell-Silver syndromes (1/127) (PWS and RSS),7 and these are now considered in the differential diagnosis of TS.6 ... Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted ...
Experiences of adolescents living with Silver-Russell syndrome. (19 March, 2021) Free Lisa Marie Ballard, Elizabeth Jenkinson, ... In depth qualitative interviews with young people growing up with Silver- Russell syndrome identified multiple psychosocial ... Images in paediatrics: Importance of the arc of Riolan in children with severe middle aortic syndrome (14 April, 2021) Zainab ... Russell Miller, Santosh R Mordekar, Benedetta Pettorini, Martin Smith, Rachel Smith, Christine Sneade, Andrea Whitney, Michael ...
A Case Report of Familial Silver-Russell Syndrome Ko HS, Kim YH, Ahn HY, Park IY, Lee Y, Kim SJ, Shin JC, Kim SP ... The Silver-Russell syndrome (SRS) is characterized by severe asymmetric intrauterine growth restriction, with a preserved head ... A case of mosaic ring chromosome 13 syndrome Kim SY, Oh SM, Kim MJ, Song ES, Kim YO, Choi YY, Woo YJ, Hwang TJ ... for amniocentesis at 19.5 weeks gestation because of advanced maternal age and evidence of increased risk for Edward syndrome ...
We do not currently offer genetic testing for Silver-Russell Syndrome (SRS). If SRS is suspected, please arrange for these ... GH-IGF-1 axis genes and genes involved in short stature syndromes such as Noonan and 3M syndrome. ...
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. Clin. ...
Beckwith--Wiedemann and Silver--Russell syndromes: opposite developmental imbalances in imprinted regulators of placental ... Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7: Comparison with non-UPD7 cases (1999). ... An interstitial deletion of proximal 8q (q11-q13) in a girl with Silver-Russell syndrome-like features. (1994). Clinical ... X chromosome inactivation patterns in Russell--Silver syndrome patients and their mothers (2003). American Journal of Medical ...
... studied the molecular mechanisms of the clinical similarity between syndrome Temple and Russell Silver syndrome. Their study, ... Syndrome Temple and Silver Russell understanding of epigenetic mechanisms regulating fetal growth. A team Sorbonne / AP-HP / ... in the diagnosis and treatment of patients with these rare syndromes. ...
Beckwith-Wiedemann Syndrome and Silver-Russell Syndrome: A pair of syndromes that impact development. In Beckwith-Wiedemann ... Beckwith-Wiedemann syndrome also is linked to increased cancer risk; Silver-Russell syndrome is associated with increased ... syndrome, too much growth occurs while in Silver-Russell Syndrome, too little growth occurs. ... Robinow syndrome: A syndrome that affects development of the skeleton.. *Osteogenesis imperfecta: A set of genetic disorders ...
Russell-Silver syndrome January 4, 2021. General paediatrics, Genetics, Nutritionadmin Genetic cause of short stature, often ... Renal function - haemolytic uraemic syndrome (usually with diarrhoea and bloody stools, but not always) ... Appears benign, although high levels reported with lymphoma and hypereosinophilic syndrome, plus liver disease. ... but can also reflect haemophagocytosis syndrome (due to sepsis or rheumatological disease) ...
RSS Full Form in Medical: Russell-Silver syndrome. रसेल-सिल्वर सिंड्रोम (RAS) एक दुर्लभ अनुवांशिक विकार है जिसे विकास मंदता, ...
  • Silver-Russell syndrome (SRS), also called Silver-Russell dwarfism, is a rare congenital growth disorder. (wikipedia.org)
  • Silver HK, Kiyasu W, George J. Syndrome of congenital hemihypertrophy, shortness of stature and elevated urinary gonadotropins. (medscape.com)
  • Russell Silver syndrome (RSS) is an extremely rare congenital condition characterized by stunted growth and limb or facial asymmetry. (careoptionsforkids.com)
  • 29 countries and territories have reported potential cases of congenital Zika syndrome. (cdc.gov)
  • Prader-Willi syndrome, Angelman syndrome, and Beckwith-Wiedemann syndrome), Silver-Russell syndrome may be associated with the use of assisted reproductive technologies such as in vitro fertilization. (wikipedia.org)
  • The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases. (medscape.com)
  • In Beckwith-Wiedemann syndrome, too much growth occurs while in Silver-Russell Syndrome, too little growth occurs. (vai.org)
  • In Beckwith-Wiedemann syndrome, for example, the loss of epigenetic marks causes an overgrowth of the placenta and certain parts of the fetus. (technologynetworks.com)
  • In 10% of the cases the syndrome is associated with maternal uniparental disomy (UPD) on chromosome 7. (wikipedia.org)
  • 7q11.23 duplication syndrome, a condition that can cause a variety of neurological and behavioral problems as well as other abnormalities, results from an extra copy of a region on the long (q) arm of chromosome 7. (medlineplus.gov)
  • Less commonly, FOXP2 -related speech and language disorder results from a rearrangement of the structure of chromosome 7 (such as a translocation) or from inheriting two copies of chromosome 7 from the mother instead of one from each parent (a phenomenon called maternal uniparental disomy or maternal UPD, which is described in more detail with Russell-Silver syndrome, below). (medlineplus.gov)
  • People with maternal UPD for chromosome 7 have FOXP2 -related speech and language disorder as part of a larger condition called Russell-Silver syndrome (described below). (medlineplus.gov)
  • Abnormalities of chromosome 7 are responsible for some cases of Greig cephalopolysyndactyly syndrome, a disorder that affects development of the limbs, head, and face. (medlineplus.gov)
  • In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material between chromosome 7 and another chromosome. (medlineplus.gov)
  • We present a 3-year-old male patient with clinical diagnosis of Silver-Russell Syndrome (SRS) associated with a de novo heterozygous deletion of the long arm of the chromosome 12 (12q14.3) encompassing the HMGA2 gene. (biomedcentral.com)
  • Temple syndrome (TS) is an imprinting disorder that was first described by Temple et al in 1991 in a report of a male aged 18 years with maternal uniparental disomy of chromosome 14. (bmj.com)
  • Human diseases involving genomic imprinting include Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes. (wikipedia.org)
  • The study found that fertility treatments caused epigenetic changes associated with Beckwith-Wiedemann, Silver-Russell and Angelman syndromes in mouse embryos. (technologynetworks.com)
  • Using the example of the classic sister imprinting disorders, Prader-Willi and Angelman Syndromes, the functional consequences of changes to imprinted clusters of genes and ncRNA highlight how these perturbations can change brain development and function. (epigenie.com)
  • Prader-Willi syndrome (PWS), for improvement of growth and body composition. (medicines.org.uk)
  • Although several genetic mechanisms that cause the syndrome are known, more than 40% of patients with a SRS-like phenotype remain without an etiological diagnosis. (biomedcentral.com)
  • In the last few years, different clinical reports have suggested that mutations or deletions of the HMGA2 gene can be responsible for a SRS-like phenotype in patients with negative results of the common diagnostic tests for this syndrome. (biomedcentral.com)
  • A 79-kb paternally inherited 7q32.2 microdeletion involving MEST in a patient with a Silver-Russell syndrome-like phenotype. (bvsalud.org)
  • Silver-Russell Syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction and normal head circumference with consequent relative macrocephaly. (biomedcentral.com)
  • Abnormalities of spontaneous growth hormone (GH) secretion and subnormal responses to provocative growth hormone stimulation testing have been reported in a significant number of children with Silver-Russell syndrome. (medscape.com)
  • Russell-Silver syndrome (or Silver-Russell syndrome) is a rare birth defect which causes decreased growth of the fetus (intrauterine growth restriction - IUGR) and infant/child (postnatal growth deficiency), leading to short stature. (limblength.org)
  • Most children with Russell-Silver syndrome have hemihypertrophy , or larger asymmetric growth on one side of the body compared to the other. (limblength.org)
  • Some children with this syndrome tend to be short, slowing the growth of the longer side (epiphysiodesis) is usually not recommended. (limblength.org)
  • But, if your child suffers from Russell Silver syndrome, then their growth may not be so apparent in their height. (careoptionsforkids.com)
  • Silver-Russell Syndrome (SRS) is a distinct syndromic growth disorder in which prenatal and postnatal growth failure are associated with other characteristic features, including relative macrocephaly at birth, protruding forehead in early life, body asymmetry and substantial feeding difficulties. (biomedcentral.com)
  • Growth disturbance due to insufficient secretion of growth hormone (growth hormone deficiency, GHD) and growth disturbance associated with Turner syndrome or chronic renal insufficiency. (medicines.org.uk)
  • We propose the use of the name 'Temple syndrome' for this condition and suggest that improved diagnosis and long-term monitoring, especially of growth and cardiovascular risk factors, is required. (bmj.com)
  • Zeid, age 6, has Russell Silver Syndrome which results in growth and development delays. (variety.org.uk)
  • Extra copies of several of these genes likely contribute to the characteristic features of 7q11.23 duplication syndrome. (medlineplus.gov)
  • We have designed a novel gene panel which incorporates approximately 60 genes associated with short stature and include: GH-IGF-1 axis genes and genes involved in short stature syndromes such as Noonan and 3M syndrome. (qmul.ac.uk)
  • Interestingly, Silver-Russell patients have variable hypomethylation levels in different body tissues, suggesting a mosaic pattern and a postzygotic epigenetic modification issue. (wikipedia.org)
  • Eggermann T, Spengler S, Gogiel M, Begemann M, Elbracht M. Epigenetic and genetic diagnosis of Silver-Russell syndrome. (medscape.com)
  • For many years the diagnosis of Silver-Russell syndrome was clinical. (wikipedia.org)
  • However, this led to overlaps with syndromes with similar clinical features such as Temple syndrome and 12q14 microdeletion syndrome. (wikipedia.org)
  • Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome. (medscape.com)
  • Multiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). (biomedcentral.com)
  • Bartholdi et al reported a clinical score for evaluating a patient for Silver-Russell Syndrome (SRS). (medicalalgorithms.com)
  • A team Sorbonne / AP-HP / Inserm, led by Professor Irene Netchine, physiology professor at Sorbonne University and pediatrician at the Hospital Armand Trousseau AP-HP, studied the molecular mechanisms of the clinical similarity between syndrome Temple and Russell Silver syndrome. (inserm.fr)
  • It is estimated that approximately 50% of Silver-Russell patients have hypomethylation of H19 and IGF2. (wikipedia.org)
  • Surgical intervention has the potential for improved alignment, walking, mobility and function in patients with Russell-Silver syndrome, but it also carries some risks. (limblength.org)
  • We help patients with Russell-Silver syndrome achieve their best possible result. (limblength.org)
  • Left-hand radiographs were analyzed for bone age of 15 patients with Russell-Silver syndrome. (wustl.edu)
  • Patients with Russell-Silver Syndrome are a challenge to the anaesthetist because of the variety of anomalies. (uwi.edu)
  • Their study, published in Science Advances , highlights the importance of gene network concept "imprinted" in the diagnosis and treatment of patients with these rare syndromes. (inserm.fr)
  • European Reference Network on Rare Endocrine Conditions mission is to reduce and ultimately abolish inequalities in care for patients with rare endocrine conditions in Europe, through facilitating knowledge sharing and facilitating related healthcare en research. (endo-ern.eu)
  • le Merrer syndrome or gloomy syndrome (because prevalent symptoms show malformities on the patients' faces). (naturalcurefor.com)
  • San Diego, Calif: Academic Press: Other skeletal diseases resulting from G protein defects--fibrous dysplasia and McCune Albright syndrome. (medscape.com)
  • Around 50% of children with Silver-Russell syndrome (SRS) carry a hypomethylation of the imprinting control region 1 at the IGF2/H19 locus on 11p15, the functional significance of which is unknown. (nih.gov)
  • Ovarian function in adolescents with McCune-Albright syndrome. (medscape.com)
  • Silver-Russell syndrome occurs in approximately one out of every 50,000 to 100,000 births. (wikipedia.org)
  • The syndrome occurs in both girls and boys, and it may be caused by a genetic abnormality, however, there are cases that occur with no known cause. (limblength.org)
  • Testing for 14q32 should also be considered, to rule out Temple syndrome as a differential diagnosis. (wikipedia.org)
  • Russell A. A syndrome of "intrauterine dwarfism" recognisable at birth with craniofacial dysostosis, disproportionately short arms and other abnormalities (5 examples). (medscape.com)
  • The major symptoms of 3M syndrome are dwarfism, radiological and facies abnormal conditions. (naturalcurefor.com)
  • As a syndrome, a diagnosis is typically given for children upon confirmation of the presence of several symptoms listed below. (wikipedia.org)
  • Russell-Silver syndrome: anesthetic implications. (cornell.edu)
  • The tool was validated on 33 children with attention deficit/hyperactivity disorder (ADHD), 57 children born moderate-to-late premature (MLP) and 16 children with Silver-Russell syndrome (SRS). (bmj.com)
  • Gastrointestinal polyps in McCune Albright syndrome. (medscape.com)
  • With 3M syndrome, the mutation would create a stop codon prematurely. (naturalcurefor.com)
  • A retrospective study by Marsaud et al found digestive problems and malnutrition to be common in children with Silver-Russell syndrome. (medscape.com)
  • In 2017, an international consensus was published - detailing the steps clinicians should take to diagnose Silver-Russell syndrome. (wikipedia.org)
  • Five-year-old Carter, from Peterborough, has a rare genetic disease: Russell-Silver syndrome. (sickkidsfoundation.com)
  • Since there have been only 32 reported cases, 3M syndrome is classified as a rare disease. (naturalcurefor.com)
  • Incidence and severity of ovarian hyperstimulation syndrome (OHSS) in high responders after gonadotropin-releasing hormone (GnRH) agonist trigger in "freeze-all" approach. (ivi-rmainnovation.com)
  • The odds of conception go down, while the odds of genetic disorders, such as Down syndrome, go up. (technologynetworks.com)
  • However, the case for imprinting diseases doesn't end there as next up are the sister disorders of the IGF-H19 locus: Beckwith-Wiedemann and Silver-Russell Syndromes. (epigenie.com)
  • Robinow syndrome: A syndrome that affects development of the skeleton. (vai.org)
  • The Silver Russell Syndrome Global Alliance is an umbrella organization composed of parent-support organizations from around the world along with key medical specialists experienced in treating Silver Russell Syndrome. (silverrussellsyndrome.org)
  • Early recognition of McCune-Albright syndrome (MAS) is vital. (medscape.com)
  • Why choose the International Center for Limb Lengthening for treatment of Russell-Silver syndrome? (limblength.org)
  • Adult height following a combined treatment of ketoconazole - cyproterone acetate - leuprolide depot in a boy with atypical McCune-Albright syndrome. (medscape.com)
  • McCune-Albright syndrome: how many endocrinopathies can one patient have? (medscape.com)
  • A pair of syndromes that impact development. (vai.org)
  • Diagnosis and management of precocious puberty in atypical presentations of McCune-Albright syndrome: a case series review. (medscape.com)
  • Following on from an international meeting of Russ. (silverrussellsyndrome.org)
  • Attribué par la fondation Danoise Lundbeck, le « Brain Prize » est un grand prix international qui récompense des scientifiques pour l'importance de leurs recherches en neurosciences. (inserm.fr)
  • Actual specimens of Russian dress from early Russ-ian history and even from the ninth to the thirteenth centuries had not been preserved. (encyclopedia.com)