Discuss how Protein S and C work and their relevance in evaluating thrombophilia
Proteins S & C work together to prevent your blood from clotting too much; if low S&C = clot too much; P&C inactivate factors V/VIII = slow down clot formation
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15
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
What does LMNA code for in and why is it so important in development of progeria?
LMNA codes for Lamina A-protein that acts as scaffolding on the inner side of the nucleus->farnesyl stays on lamina A->piles on=abnormal nuclear envelop
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15
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
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