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BRS Pathology - Flash Cards PDF
BRS Pathology - Flash Cards PDF
1
at least 2 X and one Y, hypogonadism, tall,
Klinefelter syndrome gynecomastia, low testosterone, high pituitary
gonadotropins, infertility, p51
2
deficient fibrillin (constituent of microfibrils),
Marfan syndrome arachnodactyly, ectopia lentis, aortic aneurysm,
mitral valve prolapsed p55
3
deficient sphingomyelinase, accumulation of
sphingomyelin in phagocytes, foamy histiocytes in
Niemann Pick dx liver, spleen, lymph nodes, skin,
hepatosplenomegaly, anemia fever, occasional neuro
degeneration, half have cherry red spot macula p 57
4
deficient muscle phosphorylase, glycogen in skeletal
McArdle syndrome muscle, cramps with exertion p57
deficient hypoxanthine::guanine
phosphoribosyltransferase (HGPRT), low purine
Lesch Nyhan syndrome metabolism, high uric acid, thus gout, mental
retardation, choreoathetosis, spasticity, self
mutilation, aggressiveness p59
5
Wiskott Aldrich x linked, aka immunodeficiency with
thrombocytopenia and eczema, total
immunoglobulins often normal, recurrent infections
syndrome p74
6
thiamine deficiency, cerebral dysfunction, aka
alcoholic encephalopathy, hemorrhagic lesions in the
Wernicke Korsakoff syndrome mamillary bodies, confusion, ataxia,
ophthalmoplegia, and memory loss plus
confabulation p 105 and p115
Beriberi this comes in a wet variety and a dry one, they are
both Vit B1 thiamine deficiency
7
Henoch Schonlein hemorrhagic urticaria of extensor surgaces of arms,
legs, and buttocks, with fever, arthralgias, and GI
renal involvement similar to IgA nephropathy,
Purpura associated with URIs p128 and 189
8
occurs in SLE, small vegitations on either or both
Libman Sacks endocarditis surfaces of valves p141
9
aggressive B-cell lymphoma, EBV, starry sky
Burkitt lymphoma appearance, c myc p179
10
Virchow node superclavicular lymph node identifying metastatic
stomach CA p224
11
autosomal dominant, numerous adenomatous polyps
Gardner syndrome along with osteomas and soft tissue tumors p230
12
similar to Dubin Johnson with no
Rotor syndrome black liver p239
13
hereditary nephritis associated with nerve deafness
Alport syndrome and ocular disorders, mutation in gene for the a5
chain of type IV collagen p261
14
abnormal WT 1 gene, intersexual disorders,
Denys Drash syndrome nephropathy, wilms tumor p266
15
similar to paget breast, sometimes related to
Paget dx of vulva underlying adenoCA of sweat glands p291
16
pituitary insufficiency post-partum, low TSH ACTH
Sheehan syndrome p298 and 312
17
development of large pituitary adenomas following
Nelson syndrome bilat adrenalectomy p313
18
Conn syndrome primary aldosteronism p320
19
Sipple syndrome = MEN2a
20
aka chronic progressive histiocytosis, not as bad as
Hand Schuller Christian dx Letterer Siwe p350
Ewing sarcoma small round blue cell tumor of bone, long bones,
kids, 11:22 transloc p352
21
urethritis, conjunctivitis, arthritis, associated with
Reiter syndrome venereal or intestinal infection p354
22
Guillain Barre acute inflammatory demyelinating dx primarily
involving peripheral nerves p370
syndrome
23
Werdnig Hoffman aka infantile progressive spinal muscular atrophy,
autosomal recessive, LMN disease, infants p373
syndrome
24
pigmented iris hamartoma seen in
Lisch nodule neurofibromatosis
25
area of focal interstitial myocardial inflammation
characterized by fragmented collagen and fibrinoid
Aschoff body material, by large cells (Anitschkow myocytes) and
occasional multinucleated giant cells (Aschoff cells)
p140
26
on lymph node biopsy, seen with
Starry sky appearance Burkitt lymphoma p179
27
intracytoplasmic inclusions seen in
Reinke crystal leydig cell tumors p283
28
Hurthle cell epithelial cells with eosinophilc granular cytoplasm
seen in hashimoto p316
29
radiologic appearance of periostium
Codman triangle in bone tumors p352
30
Bcl2 gene product inhibits apoptosis p7
31
Btk gene defective in x-linked brutons agammaglobulinemia,
B-cell tyrosine kinase p73
Ras oncogenes oncogenes that code for p21 proteins which are
membrane signalers p93
32
11:22 transloc seen in ewing sarcoma
33
N myc :: neuroblastoma amplicatiion correlates
inversely with degree of differentiation p95
retinoblastoma on chromosome 13
Rb gene p95 and p352
34
APC tumor suppressor common in familial polyposis coli
and adenoCA of colon as well as other tumors p96
35
mutation = paroxysmal nocturnal
PIG A hemoglobinuria p161
36
chromosome 19, allele common in
E4 allele of apoprotein E
alzheimers
37