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53 Cards in this Set
- Front
- Back
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Complete Atrio-Ventricular Canal
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Down Syndrome
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Coarctation of the Aorta
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Turner's
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Aortic Root Dilation/Aortic Dissection
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Marfan Syndrome
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Baby presents with seizures at birth
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Von Gierke Diseas
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AFTER A FEW MONTHS POSTPARTUM
Accumulated Glycogen w/ severe Cardiomegaly & mild Hepatomegaly |
Pompe's Disease
(cytoplasm bound and membrane bound vacuoles of glycogen buildup) |
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AFTER A FEW MONTHS POSTPARTUM
Accumulated Glycogen w/ heptomegaly & renomegaly |
Von Gierke Disease
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Major cause of death for Mucopolysaccharidoses (ie Hurler's)?
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Cardiac failure due to valvular incompetence - displastic valves due not close properly during systole
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What type of hypersensitivity reaction is Hyperacute rejection?
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Arthus-type rejection: Type III
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HLA B27
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Anklyosing spondyltis
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Lots of miscarriges
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1)Robersonian translocation
2)SLE |
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Anti-dsDNA Ab
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SLE
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Anti-Sm Ab
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SLE
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antihistone Ab
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Drug-induced SLE
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anti-SS-A & SS-B Ab
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Sjogren Syndrome
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anti-GBM (glomerular basement membrane)
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Goodpasture's Syndrome
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Anti-RNP Ab
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Mixed Connective Tissue Disease (MCTD)
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own IgMs reacting against own IgGs
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RF
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Low Colloid
LOW LYMPHOCYTES! Anti-TSH Ab |
Grave's Disease
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High Colloid
HIGH LYMPHOCYTES & plasma cells Hurthle cell (any cell w/ really dark nucleus) |
Hashimoto's Disease
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What is the only AutoImm Disease more common in men than women?
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Ankylosing Spondylitis (HLA B27)
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Glomerulonephritis
-lots of pink hyaline in glomerulus |
SLE
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What is the histological difference b/w Goodpasture's and SLE?
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Goodpastures - anitgen mediated; nice, single, straight lines against tissue
SLE - immune complex mediated; not a single thin line |
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Anti-centromere Ab
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Localized Scleroderma
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Anti-DNA topoisomerase I Ab
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Diffuse Scleroderma
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Is RA mediated by antibodies, T cells, or both?
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BOTH!
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What type of HSR is Insulin-Dependent Diabetes Mellitus?
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IV
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What type of HSR is MS?
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IV
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What type of HSR is RA?
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III & IV
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Problem w/ CD40L on T cells
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Hyper-M Deficiency - X-linked
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Problem w/ Gamma chain subunit of cytokine receptors.
Mainly affecdts what receptor responsible for lymphoid proliferation |
SCID - X-linked
IL-7 Receptor |
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Activation-Induced Deaminase (AID)
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Hyper-M Deficiency - AR
-sometimes B Cell lacks CD40R |
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Adenosine Deaminase (ADA) Deficiency
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SCID - AR
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CCR5 on T cells, monocytes or both
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BOTH
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CXCR4 on T cells, monocytes or both
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T cells only
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BCL-2 (mitochondrial antiapoptotic gene) good prognosis for what cancer?
Bad prognonsis for what cancer? |
Good - breast cancer
Bad - B-cell Lymphoma |
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Mutation in mismatch repair genes?
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HNPCC
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Mutation in nucleotide excision repair genes?
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Xeroderma pigmentosa
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What is the primary mediator of cancer calchexia?
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TNF-alpha
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Laboratory Diagnosis:
B-HCB (Human Chorionic Gonadotropin) |
Testicular/Ovarian cancer
-choriocarcinomas in general |
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Laboratory Diagnosis:
CEA |
Colon cancer
-adenocarcinomas in general |
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Laboratory Diagnosis:
Ca 125 |
Ovarian cancer
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Laboratory Diagnosis:
Alpha-Fetoprotein |
Liver cancer & Yolk-sac tumors
-can also be germ cell tumors (i.e. Testicular/Ovarian cancer) |
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Mucin is produced by what kind of carcinoma?
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Adenocarcinoma
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Immunohistology Result:
Cytokeratin positive |
Epitheliod tumor
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Immunohistology Result:
LCA (leukocyte common antigen) positive |
Lymphoid tumor
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Immunohistology Result:
Desmin positive |
Muscle tumor
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Immunohistology Result:
1)CGN (Chromogranin) 2)SYN (Synaptophysin) 3)NSE (Neuron-specific enolase) |
Neuroendocrine neoplasms
Also can be Small cell lung carcinoma (50%) |
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P-glycoprotien staining positive
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Tumor is resistant to a variety of anticancer drugs
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Flow Cytometry measures what (3)?
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1) Degree of aneuploidy
2)if lympohma is T-cell or B-cell 3)positivity of an antibody |
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Genomic Analysis are useful tests for what kind of cancers?
...not useful for? |
1)Useful for leukemias and lymnphomas
i.e. philadelphia chrom - 9:22 translocation - chronic myeloid leukemia 2)epitheliod neoplams |
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FISH is an importatn test for what cancer?
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Breast Cancer gene amplicfication
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Immunohistology Result:
CDX-2 |
Colonic Cancer
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What test would you use to detect HPV?
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PCR
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