Thursday, February 14, 2008

76 - eponyms in medicine - part 8

251 - Duncan’s disease is X-linked lymphoproliferative syndrome - normal response to childhood infections but develop fatal lymphoproliferative disorders after infection with EBV; most patients with this syndrome die of infectious mononucleosis.

252 - Gerstmann syndrome is finger agnosia - agraphia - right-left disorientation - and dyscalculia.

253 - Jamaican vomiting sickness is poisoning from hypoglycin A in unripe ackee fruit; hypoglycin A is potent hypoglycemic agent that decreases rate of fatty-acid beta oxidation probably by inhibition of acyl dehydrogenase flavin-dependent oxidation; causes liver damage indistinguishable from Reye’s syndrome.

254 - Adie syndrome, sometimes known as Holmes-Adie's syndrome or Adie's Tonic Pupil, is a neurological disorder which affects the pupil of the eye and the autonomic nervous system.[1] It is caused by damage to the postganglionic fibers of the parasympathetic innervation of the eye, usually by a viral or bacterial infection which causes inflammation, and characterized by a tonically dilated pupil.Adie syndrome presents with three hallmark symptoms, namely abnormal pupil size, loss of deep tendon reflexes and diaphoresis.[1] Other signs may include hyperopia due to accommodative paresis, photophobia and difficulty reading.

255 - clay shoveler’s fracture is fracture of spinous process of C7.

256 - jacksonian march is in simple partial seizures - clonic movements of a single muscle group spreading to involve contiguous regions of the motor cortex.

257 - Goldenhar syndrome is syndrome of oculoauriculovertebral dysplasia characterized by unilateral deformity of the external ear and small ipsilateral half of the face with epibulbar lipodermoid and vertebral anomalies; autosomal dominant.

258 - Schwartz’s dictum is no acid - no ulcer.

259 - Young’s syndrome is clinical features similar to cystic fibrosis - including bronchiectasis - sinusitis - and obstructive azoospermia - but don’t have increased sweat chloride values - nor pancreatic insufficiency - nor abnormal nasal potential differences - nor the CF delta F508 mutation; affected individuals are often middle-aged males identified during evaluation for infertility.

260 - Mayer-Rokitansky-Küster-Hauser syndrome is absence of vagina from abnormality of müllerian development.

FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com

261 - Lambert - canals of is direct accessory bronchioalveolar connections.

262 - Carnett’s test is head raise - tenderness persists in abdominal wall condition (rectus hematoma) whereas pain due to intraperitoneal disease lessens.

263 - Hardy-Weinberg equilibrium is p^2 + 2pq + q^2 for describing the frequency of these genotypes; sexual reproduction doesn’t cause a constant reduction in genetic variation in each generation but remains constant.

264 - Pendred’s syndrome is autosomal recessive goiter and congenital sensorineural deafness from mutation in pendrin - a transport protein that affects organification of thyroglobulin; also malformations of cochlea and hypothyroidism (40%); pendrin involved in transport of chloride and iodide.

265 - Cullen’s sign is a faintly blue coloration particularly of umbilicus as the result of retroperitoneal bleeding from any cause - but especially in ruptured ectopic pregnancy; also seen in acute pancreatitis (1-2%).

266 - Jefferson fracture is fracture of C1 at more than one site; rarely associated with neurological deficits because of size of spinal canal at this level.

267 - Takayasu’s disease is aortic arch syndrome - pulseless disease; panartertis of the great vessels that’s most common in Asian women.

268 - baghdad boil - Leishmaniasis - This disease is also known as Leichmaniosis, Leishmaniose, leishmaniose, and formerly, Orient Boils, Baghdad Boil, kala azar, black fever, sandfly disease, Dum-Dum fever or espundia.Leishmaniasis is a disease caused by protozoan parasites that belong to the genus Leishmania and is transmitted by the bite of certain species of sand fly, including flies in the genus Lutzomyia in the New World and Phlebotomus in the Old World. The disease was named in 1901 for the Scottish pathologist William Boog Leishman.

269 - Van Wyk-Grumbach syndrome is primary hypothyroidism associated with precocious puberty and galactorrhea.

270 - Destot’s sign is scrotal hematoma suggesting pelvic fracture.

FOR MORE EPONYMS GO TO www.medeponyms.blogspot.com

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