| syndrome, cushing's | The constellation of symptoms and signs caused by an excess of cortisol hormone. Cushing syndrome is an extremely complex hormonal condition that involves many areas of the body. Common symptoms are thinning of the skin, weakness, weight gain, bruising, hypertension, diabetes, thin weak bones (osteoporosis), facial puffiness, and in women cessation of periods. Ironically, one of the commonest causes of cushing's syndrome is the administration of cortisol-like medications for the treatment of diverse diseases. All other cases of cushing's syndrome are due to excess production of cortisol by the adrenal gland including 1) an abnormal growth of the pituitary gland, which stimulates the adrenal gland, 2) a benign or malignant growth within the adrenal gland itself, which produces cortisol and 3) production within another part of the body (ectopic production) of a hormone that directly or indirectly stimulates the adrenal gland to make cortisol. Neurosurgeon harvey cushing (1869-1939) described hyperadrenocorticism (excessive production of cortisol by the adrenal gland) due quite specifically to an acth-secreting pituitary adenoma, a benign pituitary tumour that puts out acth (adrenocorticotropic hormone) which, in turn, drives (or overdrives) the adrenal gland to overproduce cortisol. (12 Dec 1998) |
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| syndrome, digeorge | This disorder is characterised by (1) low blood calcium levels (hypocalcaemia) due to underdevelopment (hypoplasia) of the parathyroid glands which control calcium; (2) underdevelopment (hypoplasia) of the thymus, an organ behind the breastbone in which lymphocytes mature and multiply; and (3) defects of the heart involving the outflow tracts from the heart. most cases of dgs are due to a microdeletion in chromosome band 22q11.2. A small number of cases have defects in other chromosomes, notably 10p13. Named after the american paediatric endocrinologist angelo more than digeorge. Other names for dgs include the third and fourth pharyngeal pouch syndrome and hypoplasia of the thymus and parathyroids. (12 Dec 1998) |
| syndrome, down | A common disorder due to a chromosome abnormality and specfically due to an extra chromosome number 21 (trisomy 21). Down syndrome includes mental retardation, a characteristic face, and multiple malformations. It is associated with a major risk for heart problems, a lesser risk of duodenal atresia (part of the intestines not developed), and a minor but still significant risk of acute leukaemia. The name down syndrome comes from the 19th century english doctor langdon down, a misnomer since he was curiously enough not the first person to describe the condition and, in great error, attributed the condition to a reversion to the mongoloid race. Hence, the old name mongolism, now considered slang. (12 Dec 1998) |
| syndrome, dumping | A group of symptoms that occur when food or liquid enters the small intestine too rapidly. These symptoms include cramps, nausea, diarrhoea, and dizziness. (12 Dec 1998) |
| syndrome, edwards | This is trisomy 18 syndrome. There are three instead of the normal two chromosomes 18. Children with this condition have multiple malformations and mental retardation due to the extra chromosome 18. The children characteristically have low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with the iq too low to even test. Nineteen out of 20 (95%) of these children die before their first birthday. The condition is named after the british physician and more than geneticist john edwards who discovered the extra chromosome in 1960. (12 Dec 1998) |
| syndrome, fish-odour | An inborn error of metabolism associated with an offensive body odour, the smell of rotting fish, due to the excessive excretion of trimethylaminuria (tma) in urine, sweat, and breath. Persons with tma may experience tachycardia (fast heart rate) and severe hypertension (high blood pressure) after eating cheese (which contains tyramine) and after using nasal sprays containing epinephrine. Tma is caused by a mutation (change) in the gene for an enzyme, flavin-containing monooxygenase-3 (fmo3) encoded by a gene on chromosome 1. The fmo3 enzyme metabolises tyramine (which is in cheese). The syndrome is associated with various psychosocial reactions, including social isolation, clinical depression and attempted suicide. (12 Dec 1998) |
| syndrome, floppy baby | Floppy baby syndrome is a general medical reference to an abnormal condition of newborns and infants manifest by inadequate tone of the muscles. Hypotonia (inadequately toned muscles resulting in floppiness) in the newborn period and infancy can be due to a multitude of different neurologic and muscle problems. (12 Dec 1998) |
| syndrome, foetal alcohol | The sum total of a person's problems caused by maternal alcohol intake during pregancy. (12 Dec 1998) |
| syndrome, fragile x | The most common heritable form of mental retardation. Fragile x syndrome is due to mutation (changes) at the fragile x site and so perforce is x-linked (carried on the x chromosome). Although it is usually more severe in males than females, the syndrome is due to a dynamic mutation (a trinucleotide repeat) that can change in length and hence in severity from generation to generation, from person to person, and even within a given person. The fragile x syndrome is also known as the martin-bell syndrome in honor of their discovery of it in 1943. (12 Dec 1998) |
| syndrome, gareis-mason | See Syndrome, MASA. (12 Dec 1998) |
| syndrome, hecht | Inherited disorder transmitted as an autosomal dominant trait in which short tight muscles make it impossible to open the mouth fully or keep the fingers straight when the hand is flexed back. The small mouth creates feeding problems. The hands may be so tightly fisted the infant crawls on the knuckles. Also called the trismus pseudocamptodactyly syndrome. (12 Dec 1998) |
| syndrome, horner | A complex of abnormal findings, namely sinking in of one eyeball, ipsilateral ptosis (drooping of the upper eyelid on the same side) and miosis (constriction of the pupil of that eye) together with anhidosis (lack of sweating) and flushing of the affected side of the face. Due to paralysis of certain nerves (specifically, the cervical sympathetic nerves). Also called horner-bernard syndrome, bernard syndrome, bernard-horner syndrome and horner's ptosis but far and away best known as horner syndrome. (12 Dec 1998) |
| syndrome, hurler | A genetic error of metabolism. There is incomplete breakdown and accumulation of a substance (a mucopolysaccharide) which is abnormally stored in the brain and other places. This usually leads to death of the individual with hurler syndrome by their early teen years. See gargoylism. (12 Dec 1998) |
| syndrome, incontinentia pigmenti | A genetic disease with blisters that develop soon after birth on the trunk and limbs, then heal, but leave dark (hyperpigmented) streaks and marble-like whorls on the skin. (the name came from the erroneous idea that the skin cells were incontinent of pigment and could not contain it normally.) other key features of ip include dental and nail abnormalities, bald patches, and (in about 1/3rd of cases) mental retardation. Ip is an x-linked dominant with male lethality. The ip gene is in band q28 on the x chromosome. Mothers with ip have an equal chance of having a normal or ip daughter or a normal son. The ip sons die before birth. Ip is also known as bloch-sulzberger syndrome. (12 Dec 1998) |
| syndrome, irritable bowel | A common gastrointestinal disorder (also called spastic colitis, mucus colitis or nervous colon syndrome), ibs is an abnormal condition of gut contractions (motility) characterised by abdominal pain, bloating, mucous in stools, and irregular bowel habits with more than alternating diarrhoea and constipation, symtoms that tend to be chronic and wax and wane over the years. Although ibs can cause chronic recurrent discomfort, it does not lead to any serious organ problems. Diagnosis usually involves more than excluding other illnesses. Treatment is directed toward relief of symptoms and includes high fibre diet, exercise, relaxation techniques, avoidance of caffeine, milk products and sweeteners, and medications. (12 Dec 1998) |
| syndesmophyte |
Fine bony projection (usually vertically orientated, unlike osteophytes) from the margin of a vertebra. Characteristic of spondylarthropathy such as ankylosing spondylitis.
출처: www.ilar.org/Glossary/Glossary_s.htm
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| syndrome |
A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease.
출처: www.iffgd.org/GIDisorders/glossary.html
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| syndrome |
A set of symptoms occurring together, the sum of signs of a morbid (sad, melancholic) state.
출처: www.methodfitness.com/fitness_glossary_s.shtml
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| syndrome |
A set of symptoms and clinical signs which, taken together, constitute a particular disease or condition.
출처: www.pakmed.bobos.ca/infertility/inf05.htm
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| syndrome |
A group of signs and symptoms that collectively define or characterize a disease or disorder; signs are objective findings such as weakness, and symptoms are subjective findings such as a feeling of fear or tingling in a finger.
출처: professionals.epilepsy.com/page/glossary.html
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