4/7

Question 1

familial chylomicronemia

Answer 1

• missing lipoprotein lipase or ApoC-II
• elevated chylomicrons
• acute pancreatitis and eruptive xanthomas

Question 2

familial hypercholesterolemia

Answer 2

• missing LDL or ApoB100
• high LDL
• premature CAD and tendon xanthomas

Question 3

familial dysbetalipoproteinemia

Answer 3

• missing ApoE
• high chylomicron and VLDL remnants
• CAD and tuboeruptive xanthomas

Question 4

familial hypertriglyceridemia

Answer 4

• missing ApoA-V
• high VLDL
• pancreatitis and obesity

Question 5

STK11

Answer 5

Peutz-Jeghers syndrome (serine/threonine kinase)

Question 6

Wernecke encephalopathy

Answer 6

destruction of mammillary bodies (oculomotor dysfunction and ataxia)

Question 7

Korsakoff syndrome

Answer 7

destruction of anterior and medial thalami (amnesia, confabulation and preserved long term memory)

Question 8

lithium and vasopressin

Answer 8

lithium causes nephrogenic DI (drugs usually cause nephrogenic)

Question 9

bleeding in Meckel’s

Answer 9

painless, patients appear well

Question 10

ROC curve

Answer 10

sensitivity (true positive rate) vs 1 - specificity (true negative rate)

Question 11

activating cancer syndrome mutation

Answer 11

RET in MEN2a/b

Question 12

Lynch syndrome

Answer 12

• MSH mismatch repair

- colorectal, endometrial, ovarian

Question 13

calcineurin inhibitors and side effects

Answer 13

cyclosporine and tacrolimus

- renal arteriolar vasoconstriction

Question 14

contraindication for metoclopramide

Answer 14

Parkinson’s due to antagonism of domaine receptors

Question 15

major problems with alkaptonuria

Answer 15

black skin, black urine, arthralgias (homogentisic acid is toxic to cartilage)

Question 16

alpha synuclein

Answer 16

Lewy body, in Parkinsons

Question 17

Tamm-Horsfall glycoprotein

Answer 17

• secreted in ascending loop of Henle

- forms hyaline casts

Question 18

foam with ethanol in amniotic fluid

Answer 18

due to surfactant

Question 19

EKG signs of hyperkalemia

Answer 19

• peaked T waves (earliest sign)
• no P waves
• prolonged PR
• wide QRS
• slow HR

Question 20

EKG signs of hypokalemia

Answer 20

• QT prolongation
• U waves
• ST depression

Question 21

hyponatremia and EKG

Answer 21

does not affect

Question 22

Parinaud syndrome

Answer 22

due to mass effect of pinealoma

• dorsal midbrain in superior colliculus region
• upward gaze palsy, abest light reflex, impaired convergence

Question 23

Li Fraumeni vs Lynch

Answer 23

Lynch is mismatch repair and has colon cancer

- Li is p53

Question 24

cystic hygromas

Answer 24

lymphatic malformations in chromosomal abnormalities

Question 25

largest ion contributor during depolarization

Answer 25

sodium

Question 26

don't forget about this cause for rash on the hands

Answer 26

contact dermatitis (can also be rocky mountain spotted fever, coxsackie and syphilis)

Question 27

type of rash in rocky mountain spotted fever

Answer 27

petechial

Question 28

tardive dyskinesia vs Huntingtons

Answer 28

Huntington's also has dementia and psychiatric symptoms

Question 29

dopamine beta hydroxylase

Answer 29

converts dopamine to norepinephrine | - hypotension, nasal congestion exercise intolerance, reverse ejaculation

Question 30

orlistat

Answer 30

intestinal lipase inhibitor for weight loss | - significant GI side effects

Question 31

MOA of action of acarbose

Answer 31

inhibits amylase and glucosidase (required for digesting complex carbs), so fewer sugars get absorbed

Question 32

Jones methylamine silver

Answer 32

spikes and domes of membranous glomerulonephropathy

Question 33

test for amyloidosis

Answer 33

congo red

Question 34

parasite with phagocytosed RBC

Answer 34

entamoeba

Question 35

treatment of chlamydia vs gonorrhea

Answer 35

``` chlamydia = azithro gonorrhea = ceftriaxone ```

Question 36

probenecid

Answer 36

prevents organic anion transport in kidney | - good for prolonging penicillin by preventing its excretion and preventing uric acid stones by promoting its excretion

Question 37

increased risk of cancer in endometriosis

Answer 37

ovarian cancer

Question 38

major side effect of endometriosis

Answer 38

infertility

Question 39

drug eluting stent mechanism and purpose

Answer 39

everolimus inhibits mTOR blocking G1 to S phase transition and preventing smooth muscle proliferation in the intima

Question 40

RNA virus that replicates in the nucleus

Answer 40

influenza

Question 41

specific haplotype variation with impairment of IgG response is due to...

Answer 41

antigen presentation

Question 42

patients with mechanical ventilation and lung problems, think.....

Answer 42

ARDS (increase in dead space)

Question 43

leucine zipper

Answer 43

transcription factor

Question 44

locations of carbamoyl phosphate synthesis reactions

Answer 44

``` 1 = urea cycle, occurs in mitochondria 2 = purine and pyrimidine synthesis , occurs in cytosol ```

Question 45

layers of fungal membrane

Answer 45

capsule, cell wall, cell membrane

Question 46

p57

Answer 46

complete moles are p57 positive due to paternal imprinting

Question 47

cardio selective vs non selective CCBs

Answer 47

``` selective = verapamil and diltiazem non = amlodipine and others ```

Question 48

MODY enzyme

Answer 48

glucokinase

Question 49

decerebrate posturing

Answer 49

pontine hemorrhage

Question 50

vasogenic edema

Answer 50

due to mass obstruction of blood brain barrier