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10
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Describe the pathophysiology of FH
Elevated LDL at birth due to lack of LDL clearance from plasma (absent/disorder LDL receptors)
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10
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Explain the rationale for use of HMG-CoA reductase inhibitors in the management of FH
inhibit conversion HMG-CoA to Mevalonate-> reduce cholesterol uptake ->increase synthesis LDL hepatic receptors ->re-uptake LDL = decrease plasma LDL
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10
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In reference to anabolic and catabolic, what is Glycogenesis? What is Glycogenolysis?
Glycogenesis - anabolic (create glycogen to be stored); Glycogenolysis- catabolic (break down glycogen to useable glucose)
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thief
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25
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rocket
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rocket
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lifesaver
Give 20 points!
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10
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Rationalize the vital signs in a child with Sickle Cell disease: Fever + Tachypnea + Tachycardia + Pain + Hypotensive
Fever (chest infection) + Tachypnea (RR, low o2 stat); Tachycardia (HR, low o2 stat) + Pain (bone infarction) + hypotensive (hypovolemia, pulmonary edema)
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10
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Describe the general appearance of cutaneous melanoma with the ABCDE criteria
A: Assymetrical; B: blurry border; C: more than 1 color; D: diameter>6mm; E: evolution of mole sudden change in shape/size/color
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10
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Explain the mechanism behind the APC/Îē-catenin pathway in the development of colorectal cancer
Loss APC function->Îē-catenin accumulates->complex w DNA->increases MYC->proliferation
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baam
Lose 25 points!
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rocket
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10
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Explain the main 3 factors in the pathophysiology behind Normocytic Anemia (where does TTP, HS, SCD fit within a factor)
1. Defects in RBC environment (TTP); 2. Defects in RBC membrane (HS); 3. Defects in RBC internal contents (SCD)
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10
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Pertinent physical exam findings in progeria
alopecia, prominent scalp pain, skin discoloration, reduced subcutaneous adipose tissue, abnormal dentition, beaked nose,
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10
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Why is there an increase in serum lactate acid in infants with Von Gierk's disease
glucose-6-phosphate is also the substrate for glycolysis and produces lactate
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10
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What are common radiological findings in Ewing Sarcoma?
Interrupted periosteal reaction; Moth-eaten bone destruction; ill-defined border; soft tissue mass accumulation around bone tumor
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10
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Explain why these lab findings are abnormal in a patient with HS: Hb, Hct, MCV, total bilirubin, LDH, HPV B19
Hb-low, lifespan HS erythrocytes; Hct-low,insuff RBC; MCV-low, sphere RBC; T. bilirubin-up, breakdown RBC; LDH-up, hemolysis; HPV B19-pos, infect bone marrow
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lifesaver
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star
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rocket
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lifesaver
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10
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What is the pathophysiology of hereditary spherocytosis?
Primary membrane defect (akryin gene-> spectrin protein)-> membrane loss-> spherocyte forms-> splenic trap->erythrostasis = phagocytosis extravascular hemolysis
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10
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Describe typical characteristics of a peripheral blood smear in a CML patient
leukocytosis, thrombocytosis, myleocytes, neutrophils
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