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Diseases and Syndromes > From UWORLD > Flashcards

Flashcards in From UWORLD Deck (37):
1

Hemophilia B inheritance

X-linked recessive (Factor IX deficiency)

2

Lesch-Nyhan inheritance

X-linked recessive (deficiency in purine salvage)

3

Huntington's inheritance

Autosomal dominant

4

Leber hereditary optic neuropathy inheritance

mitochondrial inheritance

5

Difficulty swallowing + spoon fingernails = ...?

Iron deficiency anemia

6

TCA's counterindicated for...?

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

7

Lisinopril is an...? Nicely used for...?

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

8

Colchicine

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

9

Wiskott-Aldrich syndrome

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

10

Chediak-Higashi syndrome

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

11

McArdle Disease

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.

12

Raphe nuclei

Serotonin secreting cells affected by SSRIs

13

Pseudomonas toxin and mechanism

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

14

Corynebacterium diphtheriae toxin and mechanism

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

15

S. aureus x2 toxins and mechanism

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

16

C. difficile toxin and mechanism

Cytotoxin B - induces actin depolymerization causing mucosal cell death

17

C. botulinum toxin and mechanism

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

18

B. pertussis toxin and mechanism

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

19

V. cholerae toxin and mechanism

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

20

Wilson disease

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

21

Inhibitors of topoisomerase II? x2

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

22

Antimetabolites that inhibit thymidylate synthase? x2

5-Fluorouracil, 5-deoxyuridine

23

Antimetabolite that inhibits dihydrofolate reductase?

Methotrexate

24

Inhibitors of topoisomerase 1? x2

Irinotecan, topotecan

25

Drugs interfering with microtubule function? x3

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

26

Adenosine deaminase deficiency causes...

SCID (second most common cause after X-linked)

27

xanthine oxidase deficiency causes...

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

28

NADPH oxidase deficiency causes...

CGD (chronic granulomatous disease). Test: nitroblue tetrazolium

29

myeloperoxidase deficiency causes...

immunodeficiency -- neutrophils cannot create bleach to kill phagocytosed organisms

30

B-myosin heavy chain mutation

hypertrophic cardiomyopathy. autosomal dominant

31

defect in LDL receptors

familial hypercholesterolemia. autosomal dominant.

32

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

mutations associated with early onset alzheimers

33

e4 allele of apolipoprotein E

mutations associated with late onset familial alzheimers

34

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

Buspirone

35

listeria meningitis treated with...

ampicillin

36

pneum meningitis and h inf. meningitis treated with

ceftriaxone

37

joint treatment for malaria and toxo?

pyrimethamine, an anti-folate agent