From UWORLD Flashcards
Hemophilia B inheritance
X-linked recessive (Factor IX deficiency)
Lesch-Nyhan inheritance
X-linked recessive (deficiency in purine salvage)
Huntington’s inheritance
Autosomal dominant
Leber hereditary optic neuropathy inheritance
mitochondrial inheritance
Difficulty swallowing + spoon fingernails = …?
Iron deficiency anemia
TCA’s counterindicated for…?
BPH (can cause/exhasperate urinary retention). Examples: amitriptyline, imipramine, doxepin, clomipramine
Lisinopril is an…? Nicely used for…?
ACE inhibitor. Use to treat HTN in presence of CHF.
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.
Wiskott-Aldrich syndrome
recurrent infections (immunocompromised, B and T), thrombocytopenia, eczema. X-linked.
Chediak-Higashi syndrome
oculocutaneous albinism, peripheral neuropathy, immunodeficiency. Failure of phagocyte phagosome-lysosome fusion.
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.
Raphe nuclei
Serotonin secreting cells affected by SSRIs
Pseudomonas toxin and mechanism
Exotoxin A, binds EF-2 preventing protein synthesis and causing cell death
Corynebacterium diphtheriae toxin and mechanism
like exotoxin A, diphtheria toxin binds EF-2, preventing protein formation and causing cell death
S. aureus x2 toxins and mechanism
Enterotoxin - superantigen causing vomiting
TSS toxin - superantigen causing T-cell cytokine release and shock
C. difficile toxin and mechanism
Cytotoxin B - induces actin depolymerization causing mucosal cell death
C. botulinum toxin and mechanism
Botulinum toxin - blocks release of acetylcholine at NMJ, causing flaccid paralysis
B. pertussis toxin and mechanism
Pertussis toxin - disinhibits adenylate cyclase via Gi ADP ribosylation, increases cAMP, causes histamine sensitivity and phagocyte dysfunction
V. cholerae toxin and mechanism
cholera toxin - activates adenylate cyclase via Gs ADP ribosylation, increases cAMP, causes secretory diarrhea and electrolyte imbalances
Wilson disease
elevated copper. impaired incorporation of Cu into ceruloplasmin, decreased excretion in bile, accumulation in liver and other organs.
Inhibitors of topoisomerase II? x2
Etoposide – use for testicular and small cell lung cancer. Podophyllin – for genital warts.
Antimetabolites that inhibit thymidylate synthase? x2
5-Fluorouracil, 5-deoxyuridine
Antimetabolite that inhibits dihydrofolate reductase?
Methotrexate
Inhibitors of topoisomerase 1? x2
Irinotecan, topotecan
Drugs interfering with microtubule function? x3
Vinca alkaloids (vincristine, vinblastine) - bind monomers Taxanes (paclitaxel) - microtubule disfunction. Both inhibit mitosis.
Adenosine deaminase deficiency causes…
SCID (second most common cause after X-linked)
xanthine oxidase deficiency causes…
low levels of uric acid, and xanthine renal calculi. this enzyme is inhibited by allopurinol (hence, treats gout)
NADPH oxidase deficiency causes…
CGD (chronic granulomatous disease). Test: nitroblue tetrazolium
myeloperoxidase deficiency causes…
immunodeficiency – neutrophils cannot create bleach to kill phagocytosed organisms
B-myosin heavy chain mutation
hypertrophic cardiomyopathy. autosomal dominant
defect in LDL receptors
familial hypercholesterolemia. autosomal dominant.
amyloid precursor protein (APP) on chrom 21; presenilin 1 on chrom 14; presenilin 2 on chrom 1
mutations associated with early onset alzheimers
e4 allele of apolipoprotein E
mutations associated with late onset familial alzheimers
Non benzo anxiolytic used for generalized anxiety disorder. No dependence, no euphoria, slow onset (2 weeks), no muscle relaxant or anticonvulsant properties.
Buspirone
listeria meningitis treated with…
ampicillin
pneum meningitis and h inf. meningitis treated with
ceftriaxone
joint treatment for malaria and toxo?
pyrimethamine, an anti-folate agent
