eponyms in medicine - part 27

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.

eponyms in medicine - part 11

100 - Holme’s heart is single ventricle with normally-related great arteries.

101 - Kleihauer-Betke test is testing for the presence of fetal blood cells in maternal circulation .

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

103 - Riley-Day syndrome is hereditary sensory and autonomic neuropathy type III (familial dysautonomia) - recessive disorder that commences in infancy and is characterized by conspicuous autonomic dysfunction (absent tearing - labile temperature - and blood pressure) - and accompanied by absent taste sensation - absent fungiform papillae on tongue - impaired pain and temperature sensation - and areflexia; occurs among Ashkenazi; associated with mutation in IKBKAP gene.

104 - pink disease is acrodynia - occurs from exposure to high concentrations of mercury vapor - characterized by a body rash - swelling and irritation of palms and feet followed by skin desquamation - irritability - photophobia - fever - insomnia and profuse sweating - which may also follow oral exposure to mercury compounds.

105 - Amadori product is products of early non enzymatic glycoslyation of proteins.

106 - Marshall-Smith syndrome is accelerated skeletal maturation - failure to thrive - and dysmorphic facial features with death in early infancy or childhood from pulmonary infections.

107 - Lowe’s syndrome is X-linked - oculocerebrorenal syndrome characterized by congenital cataracts - mental retardation - renal tubular acidosis type 2; from defect in lipid phosphatase - phosphatidylinositol 4 -5 bisphosphate [PtdIns(4 -5)P2]5-phosphatase - which localizes to the Golgi apparatus and is suspected to play a role in Golgi vesicular transport.

108 - hemoglobin Lepore is no beta chain; delta chain by delta-beta hybrid.

109 - gamekeeper’s thumb is injury to ulnar collateral ligament of the thumb.

110 - Batten’s disease is later-onset ceroid lipofuscinosis - CLN3 - also used to describe juvenile form specifically; in general a group of conditions characterized by mental impairment - worsening seizures - and progressive loss of sight and motor skills related to buildup of lipopigments.