From UWORLD

Question 1

Hemophilia B inheritance

Answer 1

X-linked recessive (Factor IX deficiency)

Question 2

Lesch-Nyhan inheritance

Answer 2

X-linked recessive (deficiency in purine salvage)

Question 3

Huntington’s inheritance

Answer 3

Autosomal dominant

Question 4

Leber hereditary optic neuropathy inheritance

Answer 4

mitochondrial inheritance

Question 5

Difficulty swallowing + spoon fingernails = …?

Answer 5

Iron deficiency anemia

Question 6

TCA’s counterindicated for…?

Answer 6

BPH (can cause/exhasperate urinary retention). Examples: amitriptyline, imipramine, doxepin, clomipramine

Question 7

Lisinopril is an…? Nicely used for…?

Answer 7

ACE inhibitor. Use to treat HTN in presence of CHF.

Question 8

Colchicine

Answer 8

Anti-inflammatory used for gout in the presence of peptic ulcer disease (instead of normally used NSAIDS). Works by binding tubulin, reducing leukocyte migration.

Question 9

Wiskott-Aldrich syndrome

Answer 9

recurrent infections (immunocompromised, B and T), thrombocytopenia, eczema. X-linked.

Question 10

Chediak-Higashi syndrome

Answer 10

oculocutaneous albinism, peripheral neuropathy, immunodeficiency. Failure of phagocyte phagosome-lysosome fusion.

Question 11

McArdle Disease

Answer 11

Myophosphorylase (glycogen phosphorylase) deficiency, reduced ability to breakdown muscle glycogen to form glucose during exercise. Poor exercise tolerance, cramps, rhabdo. Treat with glucose prior to activity.

Question 12

Raphe nuclei

Answer 12

Serotonin secreting cells affected by SSRIs

Question 13

Pseudomonas toxin and mechanism

Answer 13

Exotoxin A, binds EF-2 preventing protein synthesis and causing cell death

Question 14

Corynebacterium diphtheriae toxin and mechanism

Answer 14

like exotoxin A, diphtheria toxin binds EF-2, preventing protein formation and causing cell death

Question 15

S. aureus x2 toxins and mechanism

Answer 15

Enterotoxin - superantigen causing vomiting

TSS toxin - superantigen causing T-cell cytokine release and shock

Question 16

C. difficile toxin and mechanism

Answer 16

Cytotoxin B - induces actin depolymerization causing mucosal cell death

Question 17

C. botulinum toxin and mechanism

Answer 17

Botulinum toxin - blocks release of acetylcholine at NMJ, causing flaccid paralysis

Question 18

B. pertussis toxin and mechanism

Answer 18

Pertussis toxin - disinhibits adenylate cyclase via Gi ADP ribosylation, increases cAMP, causes histamine sensitivity and phagocyte dysfunction

Question 19

V. cholerae toxin and mechanism

Answer 19

cholera toxin - activates adenylate cyclase via Gs ADP ribosylation, increases cAMP, causes secretory diarrhea and electrolyte imbalances

Question 20

Wilson disease

Answer 20

elevated copper. impaired incorporation of Cu into ceruloplasmin, decreased excretion in bile, accumulation in liver and other organs.

Question 21

Inhibitors of topoisomerase II? x2

Answer 21

Etoposide – use for testicular and small cell lung cancer. Podophyllin – for genital warts.

Question 22

Antimetabolites that inhibit thymidylate synthase? x2

Answer 22

5-Fluorouracil, 5-deoxyuridine

Question 23

Antimetabolite that inhibits dihydrofolate reductase?

Answer 23

Methotrexate

Question 24

Inhibitors of topoisomerase 1? x2

Answer 24

Irinotecan, topotecan

Question 25

Drugs interfering with microtubule function? x3

Answer 25

``` Vinca alkaloids (vincristine, vinblastine) - bind monomers Taxanes (paclitaxel) - microtubule disfunction. Both inhibit mitosis. ```

Question 26

Adenosine deaminase deficiency causes...

Answer 26

SCID (second most common cause after X-linked)

Question 27

xanthine oxidase deficiency causes...

Answer 27

low levels of uric acid, and xanthine renal calculi. this enzyme is inhibited by allopurinol (hence, treats gout)

Question 28

NADPH oxidase deficiency causes...

Answer 28

CGD (chronic granulomatous disease). Test: nitroblue tetrazolium

Question 29

myeloperoxidase deficiency causes...

Answer 29

immunodeficiency -- neutrophils cannot create bleach to kill phagocytosed organisms

Question 30

B-myosin heavy chain mutation

Answer 30

hypertrophic cardiomyopathy. autosomal dominant

Question 31

defect in LDL receptors

Answer 31

familial hypercholesterolemia. autosomal dominant.

Question 32

amyloid precursor protein (APP) on chrom 21; presenilin 1 on chrom 14; presenilin 2 on chrom 1

Answer 32

mutations associated with early onset alzheimers

Question 33

e4 allele of apolipoprotein E

Answer 33

mutations associated with late onset familial alzheimers

Question 34

Non benzo anxiolytic used for generalized anxiety disorder. No dependence, no euphoria, slow onset (2 weeks), no muscle relaxant or anticonvulsant properties.

Answer 34

Buspirone

Question 35

listeria meningitis treated with...

Answer 35

ampicillin

Question 36

pneum meningitis and h inf. meningitis treated with

Answer 36

ceftriaxone

Question 37

joint treatment for malaria and toxo?

Answer 37

pyrimethamine, an anti-folate agent