Wednesday, March 5, 2008

eponyms in medicine - part 33

321 - Modigliani syndrome is thyroid in normal position but people with long curving necks enhance prominence and palpation of thyroid.

322 - Kew Gardens spotted fever is Rickettsialpox due to Rickettsia akari - from Kew Gardens - New York.

323 - Kennedy syndrome is X-linked spinobulbar muscular atrophy; from CAG repeat expansion encoding androgen receptor; leads to distal limb amyotrophy - bulbar signs - fasiculations prominent - androgen insensitivity with gynecomastia - testicular atrophy - and oligospermia.

324 - Berger’s disease is IgA nephropathy - ESRD develops in 15% of cases at 10 years and 20% at 20 years - treated with steroids in certain instances.

325 - Schwachman-Diamond syndrome is combination of neutropenia - metaphyseal dysplasia - and pancreatic insufficiency - associated with recurrent infections beginning in the first year of life in the sinuses - bones - lungs - skin and urinary tract; associated with increased risk of aplasia - myelodysplasia - and leukemia; life expectancy is 35 years.

326 - Thompson's test is verifies if gastroc-soleus complex intact; squeeze calf belly - foot should plantar flex.

327 - Steele-Richardson-Olszewski syndrome is aka progressive supranuclear palsy.

328 - Bancroft’s sign is in deep vein thrombosis - compression of calf forward against tibia causing more pain than horizontal compression when gastrocnemius muscle is lifted; also referred to as Moses’s sign.

329 - Bang’s disease is brucellosis.

330 - Williams’s syndrome is supravalvular aortic stenosis - mental retardation - elfin facies - association with hypercalcemia due to abnormal sensitivity to vitamin D - idiopathic hypercalcemia of pregnancy - loquacious personality - abnormally sensitive hearing; from deletion in elastin gene and probably several adjacent genes.

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