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15
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Describe the clinical features of TTP
Purpura, Confusion, Arrhythmia, Proeinuria, increase serum indirect bilirubin + LDH, decrease haptoglobin
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15
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Why does a person with a G6P deficiency need to eat corn starch?
corn starch is a glucose polymer that is broken down slowly = control glucose levels
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15
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Describe the genetic pathogenesis of Chronic Myeloid Leukemia
Translocation of chromosome 9 segment onto Chromosome 22-> Philadelphia Chromosome w/ BCR-ABL fusion gene= hematopoeitic stem cell division unregulated
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15
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Describe how 5-flurouracil (5-FU) produces its chemotherapeutic effect
Inactive (parent drug)-> metabolized-> metabolites FdUMP block TS=interfere with DNA/RNA/protein formation
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15
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Describe the process of plasmapheresis
liquid part of the blood, or plasma, is separated from the blood cells. Typically, the plasma is replaced with another solution--> returned to body
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15
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Describe the process that leads to microangiopathic hemolytic anemia (schistocyte formation) in TTP
TTP->ADAMTS13 deficient->cleavage down, increase vWG multimers->hypercoagubale->prothombotic->aggregate->obstruct vessel->sheering RBCS=shistocytes
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15
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What are common symptoms of anemia you see in patients with CML?
Anemia -> lower oxygenation of blood->body compensates = pallor, dyspnea, tachycardia
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15
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Summarize the two main roles of vWF in the process of clot formation
1.primary hemostasis- PLT adhesion; 2.secondary hemostasis- vWF complexes VIII->prolong half-life VIII (prevent its degradation)->complex IX->activate X
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15
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Identify common risk factors for breast cancer
genetics (BRCA1/2, HER2); Demographics (female, older); prolonged estrogen exposure; Previous cancers/radiation; Lifestyle (alcohol, BMI, smoking)
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15
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What is the underlying pathogenesis of Von Gierk's (Type I) disease?
glucose-6-phosphatase deficiency (can't go from G6P to Glucose)
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15
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Identify 3 specific gene mutations which can lead to the development of breast cancer
BRCA2: tumor suppressor, chromosome stability; BRCA1: tumor suppressor,DNA damage response/repair; HER2: proto-oncogene, nonregulated tissue growth
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15
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Differentiate the causes and inheritance patterns of the major types of vWD (Type 1, 2, 3)
Type 1: partial deficiency-quantity, autosomal dominant; Type 2: qualitative variant, AD/some AR; Type 3-severe quantitative-missing vWF, Autosomal Recessive
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