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53 Cards in this Set

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Complete Atrio-Ventricular Canal
Down Syndrome
Coarctation of the Aorta
Turner's
Aortic Root Dilation/Aortic Dissection
Marfan Syndrome
Baby presents with seizures at birth
Von Gierke Diseas
AFTER A FEW MONTHS POSTPARTUM

Accumulated Glycogen w/ severe Cardiomegaly & mild Hepatomegaly
Pompe's Disease

(cytoplasm bound and membrane bound vacuoles of glycogen buildup)
AFTER A FEW MONTHS POSTPARTUM


Accumulated Glycogen w/ heptomegaly & renomegaly
Von Gierke Disease
Major cause of death for Mucopolysaccharidoses (ie Hurler's)?
Cardiac failure due to valvular incompetence - displastic valves due not close properly during systole
What type of hypersensitivity reaction is Hyperacute rejection?
Arthus-type rejection: Type III
HLA B27
Anklyosing spondyltis
Lots of miscarriges
1)Robersonian translocation

2)SLE
Anti-dsDNA Ab
SLE
Anti-Sm Ab
SLE
antihistone Ab
Drug-induced SLE
anti-SS-A & SS-B Ab
Sjogren Syndrome
anti-GBM (glomerular basement membrane)
Goodpasture's Syndrome
Anti-RNP Ab
Mixed Connective Tissue Disease (MCTD)
own IgMs reacting against own IgGs
RF
Low Colloid

LOW LYMPHOCYTES!

Anti-TSH Ab
Grave's Disease
High Colloid

HIGH LYMPHOCYTES & plasma cells

Hurthle cell (any cell w/ really dark nucleus)
Hashimoto's Disease
What is the only AutoImm Disease more common in men than women?
Ankylosing Spondylitis (HLA B27)
Glomerulonephritis

-lots of pink hyaline in glomerulus
SLE
What is the histological difference b/w Goodpasture's and SLE?
Goodpastures - anitgen mediated; nice, single, straight lines against tissue

SLE - immune complex mediated; not a single thin line
Anti-centromere Ab
Localized Scleroderma
Anti-DNA topoisomerase I Ab
Diffuse Scleroderma
Is RA mediated by antibodies, T cells, or both?
BOTH!
What type of HSR is Insulin-Dependent Diabetes Mellitus?
IV
What type of HSR is MS?
IV
What type of HSR is RA?
III & IV
Problem w/ CD40L on T cells
Hyper-M Deficiency - X-linked
Problem w/ Gamma chain subunit of cytokine receptors.

Mainly affecdts what receptor responsible for lymphoid proliferation
SCID - X-linked

IL-7 Receptor
Activation-Induced Deaminase (AID)
Hyper-M Deficiency - AR

-sometimes B Cell lacks CD40R
Adenosine Deaminase (ADA) Deficiency
SCID - AR
CCR5 on T cells, monocytes or both
BOTH
CXCR4 on T cells, monocytes or both
T cells only
BCL-2 (mitochondrial antiapoptotic gene) good prognosis for what cancer?

Bad prognonsis for what cancer?
Good - breast cancer

Bad - B-cell Lymphoma
Mutation in mismatch repair genes?
HNPCC
Mutation in nucleotide excision repair genes?
Xeroderma pigmentosa
What is the primary mediator of cancer calchexia?
TNF-alpha
Laboratory Diagnosis:

B-HCB (Human Chorionic Gonadotropin)
Testicular/Ovarian cancer

-choriocarcinomas in general
Laboratory Diagnosis:

CEA
Colon cancer

-adenocarcinomas in general
Laboratory Diagnosis:

Ca 125
Ovarian cancer
Laboratory Diagnosis:

Alpha-Fetoprotein
Liver cancer & Yolk-sac tumors

-can also be germ cell tumors (i.e. Testicular/Ovarian cancer)
Mucin is produced by what kind of carcinoma?
Adenocarcinoma
Immunohistology Result:

Cytokeratin positive
Epitheliod tumor
Immunohistology Result:

LCA (leukocyte common antigen) positive
Lymphoid tumor
Immunohistology Result:

Desmin positive
Muscle tumor
Immunohistology Result:

1)CGN (Chromogranin)
2)SYN (Synaptophysin)
3)NSE (Neuron-specific enolase)
Neuroendocrine neoplasms

Also can be Small cell lung carcinoma (50%)
P-glycoprotien staining positive
Tumor is resistant to a variety of anticancer drugs
Flow Cytometry measures what (3)?
1) Degree of aneuploidy

2)if lympohma is T-cell or B-cell

3)positivity of an antibody
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
FISH is an importatn test for what cancer?
Breast Cancer gene amplicfication
Immunohistology Result:

CDX-2
Colonic Cancer
What test would you use to detect HPV?
PCR