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Name one enzyme that is deficient in von Gierke disease
G6Pase or G6P translocase
What happens to the LDL receptor gene in familial hypercholesterolemia?
LDL receptor gene normally negative feedback. Loss of function leads to loss of inhibition.
What is the standard treatment for hypercholesterolemia?
HMG CoA reductase inhibitor (aka statin)
What is the diagnostic test for von Willebrand Factor disease?
Ristocetin cofactor assay
What is one possible etiology of a thrombotic microangiopathy?
ADAMTS13 mutation, Toxins from certain bacteria
Name one possible gain-of-function mutation for developing cutaneous melanoma
BRAF, RAS, cKIT, MEK
Name one possible loss-of-function mutation in the pathogenesis of cutaneous melanoma
CDK4, PTEN, Neurofibromin 1, CDKN2A
Discuss the name, MOA, indications of any thrombolytic drug
Thumbs up if they got it (vote)
Discuss the name, MOA, indications of any chemotherapeutic drug
Did they get it? Thumbs up (vote)
In Factor V Leiden disease, FV has a mutation that makes it resistant to....
APC/Protein S complex inhibition
Is von Willebrand disease type 1 a quantitative, qualitative, or complete deficiency of vWF?
quantitative
Name 2 common findings in von Girke disease
Hepatomegaly, hypoglycemia, lactic acidosis, hypertriglyceridemia, hyperuricemia,
Due to a positive family history for anemia and an elongated PTT, you suspect your patient has von Willebrand factor deficiency. What is the appropriate treatment?
Desmopressin
