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
hyponatremia and EKG
does not affect
Parinaud syndrome
due to mass effect of pinealoma
- dorsal midbrain in superior colliculus region
- upward gaze palsy, abest light reflex, impaired convergence
Li Fraumeni vs Lynch
Lynch is mismatch repair and has colon cancer
- Li is p53
cystic hygromas
lymphatic malformations in chromosomal abnormalities
largest ion contributor during depolarization
sodium
don’t forget about this cause for rash on the hands
contact dermatitis (can also be rocky mountain spotted fever, coxsackie and syphilis)
type of rash in rocky mountain spotted fever
petechial
tardive dyskinesia vs Huntingtons
Huntington’s also has dementia and psychiatric symptoms
dopamine beta hydroxylase
converts dopamine to norepinephrine
- hypotension, nasal congestion exercise intolerance, reverse ejaculation
orlistat
intestinal lipase inhibitor for weight loss
- significant GI side effects
MOA of action of acarbose
inhibits amylase and glucosidase (required for digesting complex carbs), so fewer sugars get absorbed
Jones methylamine silver
spikes and domes of membranous glomerulonephropathy
test for amyloidosis
congo red
parasite with phagocytosed RBC
entamoeba
treatment of chlamydia vs gonorrhea
chlamydia = azithro gonorrhea = ceftriaxone
probenecid
prevents organic anion transport in kidney
- good for prolonging penicillin by preventing its excretion and preventing uric acid stones by promoting its excretion
increased risk of cancer in endometriosis
ovarian cancer
major side effect of endometriosis
infertility
drug eluting stent mechanism and purpose
everolimus inhibits mTOR blocking G1 to S phase transition and preventing smooth muscle proliferation in the intima
RNA virus that replicates in the nucleus
influenza
specific haplotype variation with impairment of IgG response is due to…
antigen presentation
patients with mechanical ventilation and lung problems, think…..
ARDS (increase in dead space)
leucine zipper
transcription factor
locations of carbamoyl phosphate synthesis reactions
1 = urea cycle, occurs in mitochondria 2 = purine and pyrimidine synthesis , occurs in cytosol
layers of fungal membrane
capsule, cell wall, cell membrane
p57
complete moles are p57 positive due to paternal imprinting
cardio selective vs non selective CCBs
selective = verapamil and diltiazem non = amlodipine and others
MODY enzyme
glucokinase
decerebrate posturing
pontine hemorrhage
vasogenic edema
due to mass obstruction of blood brain barrier
