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Diseases and Syndromes > From UWORLD > Flashcards

From UWORLD Flashcards

1
Q

Hemophilia B inheritance

A

X-linked recessive (Factor IX deficiency)

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2
Q

Lesch-Nyhan inheritance

A

X-linked recessive (deficiency in purine salvage)

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3
Q

Huntington’s inheritance

A

Autosomal dominant

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4
Q

Leber hereditary optic neuropathy inheritance

A

mitochondrial inheritance

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5
Q

Difficulty swallowing + spoon fingernails = …?

A

Iron deficiency anemia

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6
Q

TCA’s counterindicated for…?

A

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

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7
Q

Lisinopril is an…? Nicely used for…?

A

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

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8
Q

Colchicine

A

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

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9
Q

Wiskott-Aldrich syndrome

A

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

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10
Q

Chediak-Higashi syndrome

A

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

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11
Q

McArdle Disease

A

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.

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12
Q

Raphe nuclei

A

Serotonin secreting cells affected by SSRIs

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13
Q

Pseudomonas toxin and mechanism

A

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

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14
Q

Corynebacterium diphtheriae toxin and mechanism

A

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

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15
Q

S. aureus x2 toxins and mechanism

A

Enterotoxin - superantigen causing vomiting

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

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16
Q

C. difficile toxin and mechanism

A

Cytotoxin B - induces actin depolymerization causing mucosal cell death

17
Q

C. botulinum toxin and mechanism

A

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

18
Q

B. pertussis toxin and mechanism

A

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

19
Q

V. cholerae toxin and mechanism

A

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

20
Q

Wilson disease

A

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

21
Q

Inhibitors of topoisomerase II? x2

A

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

22
Q

Antimetabolites that inhibit thymidylate synthase? x2

A

5-Fluorouracil, 5-deoxyuridine

23
Q

Antimetabolite that inhibits dihydrofolate reductase?

A

Methotrexate

24
Q

Inhibitors of topoisomerase 1? x2

A

Irinotecan, topotecan

25
Q

Drugs interfering with microtubule function? x3

A 
Vinca alkaloids (vincristine, vinblastine) - bind monomers
Taxanes (paclitaxel) - microtubule disfunction.  Both inhibit mitosis.
26
Q

Adenosine deaminase deficiency causes…

A

SCID (second most common cause after X-linked)

27
Q

xanthine oxidase deficiency causes…

A

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

28
Q

NADPH oxidase deficiency causes…

A

CGD (chronic granulomatous disease). Test: nitroblue tetrazolium

29
Q

myeloperoxidase deficiency causes…

A

immunodeficiency – neutrophils cannot create bleach to kill phagocytosed organisms

30
Q

B-myosin heavy chain mutation

A

hypertrophic cardiomyopathy. autosomal dominant

31
Q

defect in LDL receptors

A

familial hypercholesterolemia. autosomal dominant.

32
Q

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

A

mutations associated with early onset alzheimers

33
Q

e4 allele of apolipoprotein E

A

mutations associated with late onset familial alzheimers

34
Q

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

A

Buspirone

35
Q

listeria meningitis treated with…

A

ampicillin

36
Q

pneum meningitis and h inf. meningitis treated with

A

ceftriaxone

37
Q

joint treatment for malaria and toxo?

A

pyrimethamine, an anti-folate agent

Diseases and Syndromes (5 decks)

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