271 - Rosenthal fibers is inclusions that develop in astrocytes in chronic reactive and neoplastic proliferations; abundant in Alexander’s disease.
272 - Klein-Waardenburg syndrome is Waardenburg syndrome type III.
273 - Boas’s sign is right subscapular pain due to cholelithiasis - <7% sensitive.
274 - Behçet’s disease is triad of aphthous ulcers - genital ulcerations - and ocular inflammation (posterior uveitis). Associated with erythema nodosum - cutaneous pustular vasculitis - also synovitis - CNS vasculitis involving brain stem - thrombophlebitis - and positive pathergy response. Described by Turkish dermatologist Behçet in 1937; also known as Silk Road disease due to clustering of cases along the Silk Road.
275 - Kaposi’s sarcoma is low-grade vascular tumor associated with HHV-8 - four forms - classic (older men of Mediterranean or Jewish extraction) - African - organ transplant-associated - and AIDS; differential for skin lesions includes bacillary angiomatosis from Bartonella.
276 - Charcot’s joints is neurogenic joint degeneration - can be secondary to syphilis - peripheral neuropathy.
277 - There are two sets of Charcot's triads, both of which are sets of clinical signs relating to quite separate diseases. One pertains to multiple sclerosis while the other refers to ascending cholangitis. Charcot's triads are named for Jean-Martin Charcot (1825-1893), the French neurologist who first described these combinations of signs in relation to these diseases.
Charcot's triad 1: The combination of nystagmus, intention tremor, and scanning or staccato speech. This triad is sometimes associated with multiple sclerosis but is not, however, as previously considered by some authors, pathognomonic for multiple sclerosis.
Charcot's triad 2: The combination of jaundice; fever, usually with rigors; and right upper quadrant abdominal pain. Occurs as a result of ascending cholangitis. When the presentation also includes hypotension and mental status changes, it is known as Reynolds' pentad.
278 - Rebuck skin window is dermal abrasion technique for testing tissue penetration of neutrophils - scraping forearm - then putting coverslip over it - checking glass for neutrophils.
279 - Mustard procedure is for treating transposition of great vessels - now rarely used; an atrial inversion procedure which connects RA to LV - which pumps out to pulmonary arteries - and connects LA to RV - which becomes systemic pump to aorta; variant uses pericardial or prosthetic intraatrial baffles.
280 - Stransky’s sign is involuntary dorsiflexion of the toes after firmly abducting the 5th digit for 2 seconds - and then acutely letting it go in upper motor neuron defects.
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281 - Civatte bodies is aka colloid bodies; in lichen planus; anucleate - necrotic basal cells becoming incorporated into the inflamed papillary epidermis.
282 - Miller Fisher test is in normal pressure hydrocephalus - objective gait assessment before and after 30 cc CSF removed reflecting prognosis for shunting.
283 - Osler-Weber-Rendu disease is hereditary hemorrhagic telangiectasia - larger lesions can be a source of chronic blood loss - systemic emboli - hypoxemia - hepatic dysfunction - and a high-output cardiac failure; important risk factor for brain abscess - especially in affected patients with clubbing - cyanosis - and/or polycythemia; use aminocaproic acid (an antifibrinolytic agent).
284 - Rapoport-Luebering shunt is in red blood cells - pathway converting 1 -3-diphosphoglyceric acid to 2 -3-DPG and then to 3-phosphoglyceric acid; enzyme is diphosphoglycerate synthetase; 2 -3-DPG reduces affinity of hemoglobin for oxygen; 2 -3-DPG rises with alkalosis and decreases with acidosis - result of effect of pH on enzyme.
285 - Alexander’s disease is leukodystrophy-like neurodegenerative disease presenting in infancy or childhood; characterized by Rosenthal fibers.
286 - Hirschprung’s disease is megacolon; congenital disorder characterized by colonic dilatation proximal to an aganglionic - contracted distal colon and rectum; caused by gestational failure of neural crest cells to migrate to distal colon; an AD form has been reported with mutations of the RET gene - and an AR form with mutation of the endothelin-B-receptor gene.
287 - Looser’s zones is radiolucent narrow lines that lie either at right angles or obliquely to the cortical outlines of bones and often transect them; bilateral and symmetric - found at the axillary margins of the scapula - lower ribs - neck of the proximal femurs - and posterior regions of the proximal ulnas; related either to stress fractures or to mechanical erosion by penetrating nutrient arteries; aka Milkman’s fractures.
288 - 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.
289 - Burnett’s syndrome is far-advanced milk-alkali syndrome - due to long-standing calcium and alkali ingestion; severe hypercalcemia - irreversible renal failure - and phosphate retention - may be accompanied by ectopic calcification; also Cope’s syndrome.
290 - Prader-Willi syndrome is deletion of 15q11-q13 - paternally derived; uncontrollable hyperphagia after 12 months.
291 - Uhl’s anomaly is paper thin parietal myocardium - usually but not always limited to right ventricle - presents as heart failure in infancy or early childhood.
292 - Muir-Torre syndrome is patients with hereditary nonpolyposis colon cancer (HNPCC) who also develop benign or malignant sebaceous skin tumors (often basal cell or squamous cell).
293 - Gerhardt’s sign is in aortic regurgitation - pulsation of the spleen in the presence of splenomegaly; also Sailer’s sign.
294 - Volkmann contracture is sequelae of compartment syndrome where there is contraction of forearm flexors.
295 - Homer-Wright pseudorosettes is in neuroblastoma - tumor cells arranged about a central space filled with fibrillar extensions of the cells.
296 - Gilbert’s syndrome is with the exception of hemolytic anemias - most common cause of mild unconjugated hyperbilirubinemia from mild decrease glucoronyltransferase activity - responds to phenobarbital - affects up to 7% of population.
297 - Austrian triad is clinical triad of pneumococcal pneumonia - meningitis - and endocarditis (classically aortic valve endocarditis associated with aortic regurgitation); described by Robert Austrian.
298 - Chvostek’s sign is hypocalcemia - in latent tetany - tapping the facial nerve against the bone just anterior to the ear producing ipsilateral contraction of facial muscles.
299 - Eagle-Barrett syndrome is prune-belly syndrome with triad of abdominal muscle deficiency - urinary tract abnormalities - and cryptorchidism.
300 - Desçemet’s membrane is membrane that forms the deepest layer of the cornea and functions as thin basement membrane for endothelium; location where copper is deposited in Wilson’s disease Kayser-Fleischer rings.
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