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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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eraser
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gold
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rocket
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baam
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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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What will the lab findings be for a patient with vWF disease and why: Bleeding time, PT, aPTT
Bleeding time- prolonged (impaired platelet plug formation; PT: normal (extrinsic fine); aPTT: prolonged (reduced VII->impaired intrinsic)
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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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Describe typical characteristics of a peripheral blood smear in a CML patient
leukocytosis, thrombocytosis, myleocytes, neutrophils
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10
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What is the role of CD99 stain in developing diagnosis in Ewing Sarcoma?
Cell-surface transmembrane protein that is highly expressed in Ewings Sarcoma
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trap
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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 the classic signs and symptoms someone with vWF will present with?
Nosebleeds (epistaxis); Bleeding from mucosal surfaces; Easy bruising; heavy menstural bleeding; longer bleeding after dental work/surgery/injury
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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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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 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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10
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Explain the pathophysiology behind Sickle Cell Disease
RBC is sickled->vaso-oclusion->splenic sequestration + Acute chest pain + Infections; Extravascular hemolysis-> Jaundice + Aplastic crisis
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why do we treat sickle cell disease with Hydroxyurea?
increases fetal hemoglobin to retard gelation and sickling of RBCs
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