Friday, February 15, 2008

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.

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