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PLE > Patho: Genetics, Immuno, Neoplasia > Flashcards

Patho: Genetics, Immuno, Neoplasia Flashcards

1
Q
  • most common chromosomal disorder
  • flat facial profile, oblique palpebral fissures and epicanthal folds
  • non-disjunction of Ch 21 during meiosis
A

Trisomy 21 (Down’s Syndrome)

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2
Q

-prominent occiput, micrognathia, short neck, overlapping fingers, cardiac, renal, rocker-bottom feet

A

Trisomy 18 (Edward Syndrome)

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3
Q

cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia

A

DiGeorge Syndrome (CATCH 22)

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4
Q
  • > = 2 X chromosome, >= 1 Y chromosome (most common: 47XXY)
  • reduced spermatogenesis, male infertility
    testicular atrophy, micropenis
A

Klinefelter Syndrome

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5
Q
  • complete or partial X chromosome monosomy (45XO)

- ovarian streaks, absent 2° sex char., short stature, cystic hygromas (esp. neck)

A

Turner Syndrome

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6
Q
  • 2nd most common cause of mental retardation (following Down’s)
  • CGG expansion (FMR1 gene of X chromosome)
    (+) macroorchidisim
A

Fragile X Syndrome

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7
Q
  • Autosomal dominant neurodegenerative disorder

- CAG expansion (HTT gene, Ch 4)

A

Huntington Disease

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8
Q
  • deletion in paternally derived Ch 15

- MR, hypotonia, hyperphagia, obesity, hypogonadism

A

Prader-Willi Syndrome

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9
Q
  • deletion in maternally derived Ch 15

- MR, ataxic gait, sz, inappropriate laughter (“happy puppet”)

A

Angelman Syndrome

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10
Q
  • Caused by activation of Th2 CD4+ T cells, leading to production of IgE
  • Anaphylaxis, BA/AR, food allergies
    vascular dilation, smooth muscle contraction, mucus production
A

Type I HSR

Immediate, IgE-mediated

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11
Q
  • Caused by antibodies binding to fixed tissue and cell antigens
  • AIHA, ITP, Pemphigus vulgaris, Goodpasture, Rehumatic fever, MG, Graves, Pernicious Anemia
A

Type II HSR

Antibody-mediated

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12
Q
  • Caused by antibodies binding to antigens, which circulate and may deposit in vascular beds, stimulating inflammation secondary to complement activation
  • Inflammation, necrotizing vasculitis, fibrinoid necrosis
  • SLE, PSGN, PAN, serum sickness
A

Type III HSR

Immune-complex-mediated

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13
Q
  • Caused by a cell-mediated immune response in which T lymphocytes cause tissue injury through cytokine production, inflammation, macrophage activation, direct cell killing
  • perivascular cellular infiltrates, edema, granuloma formation, cell destruction
  • RA, MS, T1DM, IBD, Psoriasis
A

Type IV HSR

T-cell mediated

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14
Q

most common autoantibody in SLE

most specific autoantibodies for SLE

A

sens: ANA
spec: anti-Sm, anti-dsDNA
(anti-dsDNA correlates with disease activity)

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15
Q

drugs that may cause drug-induced lupus

associated with anti-histone

A

hydralazine
isoniazid
procainamide
penicillamine

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16
Q

classes of lupus nephritis

A 
I - minimal mesangial
II - mesangial proliferative
III - focal
IV - diffuse (most common! wire-loop appearance of capillaries)
V - membranous
VI - advance sclerosing
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17
Q
  • dry eyes, dry mouth, autoimmune mediated destruction of lacrimal and salivary glands
  • type IV HSR
  • lip biopsy: acinar atrophy, fibrosis, hyalinization
  • Anti-Ro, Anti-La
A

Sjogren Syndrome

18
Q
  • chronic inflammation, widespread small vessel damage, progressive interstitial and perivascular fibrosis in the skin and organs
  • skin: sclerotic atrophy
  • blood vessels: thickening of basal lamina, endothelial damage, partial occlusion
  • GIT - atrophy, fibrosis of muscularis, rubber-hose-like inflexibility (esophagus)
  • MSK: hypertrophy/plasia of synovial tissues
  • renal: intimal thickening, proliferation
  • lung: interstitial fibrosis
  • heart: pericarditis/effusion, myocardial fibrosis, thickening of intramyocardial arterioles
A

Scleroderma (systemic sclerosis)

  • diffuse scleroderma (anti-DNA topoisomerase I)
  • limited scleroderma (anti-centromere)
19
Q

CREST syndrome found in?

Calcinosis, Raynaud phenomenon, Esophageal dysmotility, Sclerodactyly, Telangiectasia

A

Limited cutaneous systemic sclerosis (limited scleroderma)

- anti-centromere (vs diffuse, anti-DNA topoisomerase I)

20
Q

Type of Kidney Rejection with

  • cyanotic, mottled, flaccid kidney
  • thrombotic occlusion of capillaries, fibrinoid necrosis of arterial walls
A 
Hyperacute Rejection
(pre-formed anti-donor antibodies)
21
Q

Type of Kidney Rejection with

  • signs of renal failure
  • [Type I, TI] tubulointerstitial infiltrates (tubulitis)
  • [Type II, vascular] swollen endothelial cells with lymphocytes (endothelitis)
A

Acute Cellular Rejection (T-cell mediated)

22
Q

Type of Kidney Rejection with

  • signs of renal failure
  • inflammation of glomeruli and peritubular capillaries, focal thrombosis of small vessels
A

Acute Antibody-mediated Rejection

Ig’s produced post-transplantation

23
Q

Type of Kidney Rejection with

  • gradual rise of crea
  • vascular: intimal inflammation, glomerulopathy w/ duplication of BM, peritubular cappilaritis
  • interstitial fibrosis, tubular atrophy, loss of renal parenchyma
A

Chronic Rejection

24
Q
  • XLR: disturbance of early T-lymphocyte development due to cytokine receptor defect
  • AR: impaired DNA synthesis due to adenosine deaminase deficiency
  • T-cells more decreased than B-cells, but antibody production ↓ due to loss of T-cell help
  • prominent oral thrush, morbiliform rash due to GVHD
A

Severe Combined Immunodeficiency

25
Q
  • XLR: Btk gene defect, needed for B-cell development
  • absent germinal centers in lymphoid tissues
  • symptomatic at about 5-6 months after maternal antibody depletion
A

Bruton Agammaglobulinemia

26
Q
  • XLR
  • triad: thrombocytopenia, infections (immunodeficiency), eczema
  • t-cells in thymus are normal, but depleted elsewhere; ↓IgM, normal IgG, ↑IgA and IgE (paradoxical)
A

Wiskott-Aldrich Syndrome

27
Q
  • maturation defect in B cells causing impaired IgA production
  • recurrent infections
A

Selective IgA deficiency

28
Q

HIV proteins:

  • attaches to CDR and CXCR4/CCR5
  • fusion protein
A

gp120

gp41

29
Q

HIV pathologic findings

A
  • CD4 T-cell depletion
  • germinal B-cell hyperplasia, bone marrow plasmacytosis → hypergammaglobulinemia and IC deposition
  • infected monocytes → CNS infection of microglia
30
Q

AIDS defining illnesses

A

< 1000 - lymphoma, TB, Kaposi Sarcoma, zoster
< 200 - PCP, candidiasis
< 100 - Cryptococcosis, mucosal herpes simplex
< 50 - CMV, MAC, Toxoplasmosis, Cryptosporidosis

31
Q

Associated with HIV,

  • most common fungal infection
  • most common type of lymphoma
  • sarcoma
A
  • candidiasis
  • B-cell lymphoma
  • Kaposi Sarcoma (HHV 8)
32
Q

Top 3 cancers in CHILDREN

A

ALL > CNS > Burkitt Lymphoma

33
Q

Top 3 cancers in MALES

A

Prostate > Lung > Colorectal

Top 3 mortalities: Lung > Prostate > Colorectal

34
Q

Top 3 cancers in FEMALES

A

Breast > Lung > Colorectal

Top 3 mortalities: Lung > Breast > Colorectal

35
Q

Most commonly mutated proto-oncogene in human cancers

A

RAS

36
Q

Tumor suppressor gene that controls the G1-S checkpoint (“guardian of the cell cycle”)

A

Rb

recall: inactivation by E7 of HPV

37
Q

Tumor suppressor gene that regulates cell cycle progression, DNA repair, cellular senescence and apoptosis (“guardian of the genome”)

A

p53

recall: inactivation by E6 of HPV

38
Q 
Proto-oncogenes and associated CA's
RAS
EGFR
HER2
JAK 2
ABL
BRAF
MYC
CDK4
A 
RAS - many (most common)
EGFR - lung
HER2 - breast
JAK 2 - PC, ET, PMF
ABL - CML
BRAF - Hairy cell leukemia
MYC - Burkitt, neuroblastoma
CDK4 - glioblastoma
39
Q 
Commonly mutated TSGs and associated CA's
Rb
p53
APC
E-cadherin
PTEN
NF1/2, WT1, VHL
A 
Rb - retinoblastoma
p53 - many cancers
APC - FAP, colorectal CA
E-cadherin - gastric CA diffuse type, invasive lobular breast CA
PTEN - breast, edometrial
40
Q 
Physical/Chemical Exposures and associated CA's
Smoking
Alcohol
Estrogen
Arsenic
Asbestos
Benzene
Nitrosamine
Cadmium
Vinyl chloride
A 
Smoking - oral cavity, pharynx, larynx, esophagus (sq), lung (sq, sc), pancreas (adeno), renal cell
Alcohol - hepatocellular
Estrogen - endom, breast
Arsenic - skin scca, liver angiosarcoma
Asbestos - lung, mesothelioma
Benzene - AML
Nitrosamine - esophagus, gastric (Japan)
Cadmium - prostate
Vinyl chloride - liver angiosarcoma

PLE (3 decks)

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