what are 3 drugs that can treat Factor V Leiden and briefly explain their MOA
1. Warfarin-block carboxylation of prothrombin/VII/X & proteins C/S->deactivates Vitamin K; 2. Dabigatran-inhibit thrombin; 3. Rivaroxaban-direct Xa inhibitor
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15
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
Discuss the clinical significance of APC-resistance assay and ratio in screening for factor V gene mutation
degree of abnormality of APC-assay correlates to heterozygosity (higher APC ratio) or homozygosity (low APC ratio) factor V Leiden mutation
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15
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
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
Contrast the pathogenesis of TTP with that of HUS
HUS: shiga toxin->ADAMTS 13 inhibition->failure to cleave vWF multimers; TTP: ADAMTS13 antibodies/congenital ADAMTS13 mutation->failure to cleave vWF multimers
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15
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
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
Discuss the TNM classification of malignancy and colorectal cancer
T: extent/size of tumor (how far grown in wall colon-mucosa, muscularis properia, suberosa/serosa); N: spread to nearby lymphs; M: metastasis to distant organs
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15
Discuss the role of factor V in blood clot formation (coagulant) & hemostatic (anticoagulant) regulation
Factor V synthesized in liver; Thrombin activates Factor V-> prothrombin to thrombin; Factor V cofactor aPC to degrade VIII/VIIIA= reduce thrombin formation
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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
Describe how 5-flurouracil (5-FU) produces its chemotherapeutic effect
