121 - Waldenström’s macroglobulinemia is marked by diffuse - leukemia-like infiltration of the bone marrow by lymphocytes - plasma cells - and hybrid forms that synthesize a monoclonal IgM - leading to macroglobulinemia; disease of old age - macroglubilinemia giving rise to visual impairment - neurologic problems - bleeding - cryoglobulinemia; hyperviscosity.
122 - St. Vitus’s dance is Sydenham’s chorea.
123 - Bing’s sign is extensor plantar response by pricking the dorsal surface of the big toe with a pin suggesting upper motor neuron defect.
124 - Thorel’s pathway is posterior internodal tract in atrial conduction system.
125 - Parkland formula is total body surface area % burned x kg x 4; 1/2 in first 8 hours - second 1/2 given next 16 hours.
126 - Millard-Gubler syndrome is ventral pontine injury causing symptoms similar to Fouville’s syndrome except lateral rectus weakness only - instead of gaze palsy.
127 - Mazzotti reaction is reaction to proteins released by dying onchocerca - including fevers - rashes - ocular damage - joint and muscle pain - and lymphangitis as well as hypotension - pyrexia - respiratory distress - and prostration.
128 - Werner’s syndrome is a form of progeria characterized by scleroderma-like skin changes (especially in extremities) - bilateral juvenile cataracts - subcutaneous calcifications - wizened and prematurely-aged facies - hypogonadism - and diabetes mellitus; autosomal recessive inheritance; from mutation in RecQ helicase.
129 - fetor hepaticus is “musty” or “sweet odor” from the formation of mercaptans by the action of GI bacteria on the sulfur-containing amino acid methionine and shunting of splanchnic blood from the portal into the system circulation (portosystemic shunting).
130 - Lynch syndrome I is cancer family syndrome with multiple colon cancers 2 to 3 decades earlier - predilection for proximal colon; Lynch syndromes most common forms of familial colon cancer - 5-10% of all cases of colon cancer; better prognosis than sporadic colon cancer; deficiency in mismatch repair genes in 85% of Lynch syndromes; autosomal dominant.
Showing posts with label lynch syndrome. Show all posts
Showing posts with label lynch syndrome. Show all posts
Saturday, February 16, 2008
Thursday, February 14, 2008
eponyms in medicine - part 2
11 - Guthrie test is for diagnosis of PKU - a bacterial assay for phenylalanine.
12 - Ghon lesion is primary area of tuberculosis infection.
13 - Paneth cells is in small intestine crypts - cells with apically oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system.
14 - Stellwag’s sign is incomplete and infrequent blinking in Graves’s disease.
15 - Virchow’s node is supraclavicular adenopathy associated with a malignancy - often on left side - associated with stomach cancer among other neoplasms but also GI and pelvic malignancies in general. First described by Virchow in 1848 - more cases added by Troisier in 1886; referred to as Troisier’s node in France.
16 - Lynch's syndrome I and II
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
Lynch syndrome II is cancer family syndrome - all features of Lynch I with early onset of carcinoma at other sites including endometrium - ovaries - and stomach - also upper tract TCC.
17 - Barraquer-Simons syndrome is acquired partial lipodystrophy; presents usually around 8-10 - preceded generally by an acute viral infection; spares legs and hips; 1/3 of patients develop membranoproliferative glomerulonephritis.
18 - McLeod phenotype is occurs from the absence of the Kx red blood cell antigen; characterized by acanthocytes; compensated hemolytic anemia; decreased Kell system antigens; increased CKMM isoenzymes; and progressive neurologic changes including areflexia - choreiform movements - dysarthria - wasting of muscles - and cardiomyopathy; may be associated with X-linked chronic granulomatous disease.
19 - Monod’s sign is in aspergillomas - radiolucent crescent seen around solitary 3-5 cm lesion on chest X-ray.
20 - TRALI syndrome is Transfusion Related Acute Lung Injury; transfusion reaction occurring within 6 hours after transfusion of blood product - characterized by pulmonary edema; due to anti-granulocyte antibodies in donor’s plasma causing pulmonary sequestration of recipient leukocytes in susceptible patient.
12 - Ghon lesion is primary area of tuberculosis infection.
13 - Paneth cells is in small intestine crypts - cells with apically oriented bright eosinophilic granules and which appear to play a role in the mucosal immune system.
14 - Stellwag’s sign is incomplete and infrequent blinking in Graves’s disease.
15 - Virchow’s node is supraclavicular adenopathy associated with a malignancy - often on left side - associated with stomach cancer among other neoplasms but also GI and pelvic malignancies in general. First described by Virchow in 1848 - more cases added by Troisier in 1886; referred to as Troisier’s node in France.
16 - Lynch's syndrome I and II
Associated persons:
Henry T. Lynch
Description:
Lynch syndrome I:
Familial predisposition to colorectal cancer with right-sided predominance. Predominantly early-onset proximal colon carcinomas.
Lynch syndrome II:
Familial predisposition for other primary cancers in addition to the predisposition for colon cancer; site is often female reproductive organs. Predominantly early onset proximal colon carcinoma associated with other extracolonic adenocarcinomas, particularly endometrial carcinoma.
Both disorders are inherited as autosomal dominant traits.
First described 1913 by Alder Scott Warthin, 1867-1931.
Lynch syndrome II is cancer family syndrome - all features of Lynch I with early onset of carcinoma at other sites including endometrium - ovaries - and stomach - also upper tract TCC.
17 - Barraquer-Simons syndrome is acquired partial lipodystrophy; presents usually around 8-10 - preceded generally by an acute viral infection; spares legs and hips; 1/3 of patients develop membranoproliferative glomerulonephritis.
18 - McLeod phenotype is occurs from the absence of the Kx red blood cell antigen; characterized by acanthocytes; compensated hemolytic anemia; decreased Kell system antigens; increased CKMM isoenzymes; and progressive neurologic changes including areflexia - choreiform movements - dysarthria - wasting of muscles - and cardiomyopathy; may be associated with X-linked chronic granulomatous disease.
19 - Monod’s sign is in aspergillomas - radiolucent crescent seen around solitary 3-5 cm lesion on chest X-ray.
20 - TRALI syndrome is Transfusion Related Acute Lung Injury; transfusion reaction occurring within 6 hours after transfusion of blood product - characterized by pulmonary edema; due to anti-granulocyte antibodies in donor’s plasma causing pulmonary sequestration of recipient leukocytes in susceptible patient.
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