4/7 Flashcards
familial chylomicronemia
- missing lipoprotein lipase or ApoC-II
- elevated chylomicrons
- acute pancreatitis and eruptive xanthomas
familial hypercholesterolemia
- missing LDL or ApoB100
- high LDL
- premature CAD and tendon xanthomas
familial dysbetalipoproteinemia
- missing ApoE
- high chylomicron and VLDL remnants
- CAD and tuboeruptive xanthomas
familial hypertriglyceridemia
- missing ApoA-V
- high VLDL
- pancreatitis and obesity
STK11
Peutz-Jeghers syndrome (serine/threonine kinase)
Wernecke encephalopathy
destruction of mammillary bodies (oculomotor dysfunction and ataxia)
Korsakoff syndrome
destruction of anterior and medial thalami (amnesia, confabulation and preserved long term memory)
lithium and vasopressin
lithium causes nephrogenic DI (drugs usually cause nephrogenic)
bleeding in Meckel’s
painless, patients appear well
ROC curve
sensitivity (true positive rate) vs 1 - specificity (true negative rate)
activating cancer syndrome mutation
RET in MEN2a/b
Lynch syndrome
- MSH mismatch repair
- colorectal, endometrial, ovarian
calcineurin inhibitors and side effects
cyclosporine and tacrolimus
- renal arteriolar vasoconstriction
contraindication for metoclopramide
Parkinson’s due to antagonism of domaine receptors
major problems with alkaptonuria
black skin, black urine, arthralgias (homogentisic acid is toxic to cartilage)
alpha synuclein
Lewy body, in Parkinsons
Tamm-Horsfall glycoprotein
- secreted in ascending loop of Henle
- forms hyaline casts
foam with ethanol in amniotic fluid
due to surfactant
EKG signs of hyperkalemia
- peaked T waves (earliest sign)
- no P waves
- prolonged PR
- wide QRS
- slow HR
EKG signs of hypokalemia
- QT prolongation
- U waves
- ST depression