Study

Sigs Unit 3 Part 1

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  • 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
  • How does p53 signaling and senescence interact with aging and progeria?
    DNA damage->lamina disrupted->chromatin conformation distress->increase p53 signaling->increase cell/tissue senescence= accelerated aging
  • 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
  • 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
  • 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
  • Describe the DNA damage that occurs from ultraviolet (UV) radiation and explain how this damage can lead to cancer
    UVB causes thymine base pairs to bind to each other->pyrimidine dimers; UVA->ROS=damage DNA repair proteins=cancer
  • 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
  • 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
  • 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
  • What is the characteristic translocation associated with Ewing Sarcoma?
    location at the chromosome 22 breakpoint of the t(11;22)(q24;q12) translocation; EWS (EWSR1) gene is involved in translocations in Ewing's sarcoma
  • Describe the clinical features of TTP
    Purpura, Confusion, Arrhythmia, Proeinuria, increase serum indirect bilirubin + LDH, decrease haptoglobin
  • 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
  • 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
  • Identify common risk factors for breast cancer
    genetics (BRCA1/2, HER2); Demographics (female, older); prolonged estrogen exposure; Previous cancers/radiation; Lifestyle (alcohol, BMI, smoking)
  • 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
  • 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
  • What are common symptoms of anemia you see in patients with CML?
    Anemia -> lower oxygenation of blood->body compensates = pallor, dyspnea, tachycardia
  • What is the underlying pathogenesis of Von Gierk's (Type I) disease?
    glucose-6-phosphatase deficiency (can't go from G6P to Glucose)
  • 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
  • Explain the significance of elevated LDH and Uric acid in the presentation of CML
    LDH: high turn over of cells-excess cell lysis; Uric Acid-breakdown of cellular nucleic acid contents of leukemia cells
  • why do patients with Ewing sarcoma present with generalized pain?
    immune cells trigger inflammation->cytokines->inflammatory markers->activate nociceptors throughout body
  • 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
  • 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
  • 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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