Sigs Unit 3 Part 1 | Baamboozle - Baamboozle | The Most Fun Classroom Games!

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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

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

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

Identify common risk factors for breast cancer

genetics (BRCA1/2, HER2); Demographics (female, older); prolonged estrogen exposure; Previous cancers/radiation; Lifestyle (alcohol, BMI, smoking)

why do patients with Ewing sarcoma present with generalized pain?

immune cells trigger inflammation->cytokines->inflammatory markers->activate nociceptors throughout body

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 is the underlying pathogenesis of Von Gierk's (Type I) disease?

glucose-6-phosphatase deficiency (can't go from G6P to Glucose)

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

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

Describe how 5-flurouracil (5-FU) produces its chemotherapeutic effect

Inactive (parent drug)-> metabolized-> metabolites FdUMP block TS=interfere with DNA/RNA/protein formation

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

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

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

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

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

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 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

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

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

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

What are common symptoms of anemia you see in patients with CML?

Anemia -> lower oxygenation of blood->body compensates = pallor, dyspnea, tachycardia

Describe the clinical features of TTP

Purpura, Confusion, Arrhythmia, Proeinuria, increase serum indirect bilirubin + LDH, decrease haptoglobin

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

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