USMLE 2 Flashcards
Menkes disease
kinky hair disease
utation in ATP7A –> inability to transport copper into the bloodstream
copper deficiency, and all copper-requiring enzymes will be affected. Example: lysyl oxidase.
kinky, depigmented, lusterless hair + vascular, neurologic, facial and ocular manifestations
recurrent neisseria infections. immune deficiency?
complement factors C5-9 (MAC)
hepatomegaly and hypoglycemic seizures suggests
glycogen storage disease
Von Gierke
Glucose 6-pohsphatase deficiency
autosomal recessive
fasting hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, hepatomegaly
glycogen accumulation in the LIVER
Pompe
lysosomal alpha 1,4-glucosidase deficency
cardiomegaly, muscle weakness, death by 2
ductal vs lobular breast carcinoma
ductal- numerous small invasive glandular structures surrounded by desmoplastic stromal response
lobular: single-file distribution of invasive cancer cells
superior vena cava syndrome
facial plethora, faical and upper extremity swelling, dyspnea
goes with lung malignancy (small cell and squamous cell carcinoma)
Gullain Barre cause
autoimmune attack on myelin of peripheral nerves. mechanism is simlar to MS
Rubella vs Rubeola
Rubella- fine rash on torso, kid not very ill. Togavirus (single stranded RNA). Lymphadenopathy. Can be devastating congenital infection in preggos
Rubeola = measles. Paramyxovirus, 3 Cs: cough, coryza, conjunctivitis. Koplik spots
rash spreads ears to face, neck, hands, feet, trunk.
what should we do with psoriatic arhtritis pt?
perform slit lamp exam for anterior uveitis
Huntington’s. What do we find on autopsy?
degeneration of caudate nucleus (GABA-ergic neurons)
wound healing timeline
First: platelets, fibrin clot
neutrophils (within an hour- 2 days)
3-5 days macrophages
finally, fibroblasts (one week)
where do olfactory neurons go?
piriform cortex
glucocorticoids and bone mass
prolonged use –> decreased bone mass and pathalogic fractures by increasing osteoclastic bone resorption and decreasing osteoblastic bone formation
ovary cells are arrested where? (until ovulation)
primary oocytes arrested in the prophase stage of the 1st meiotic division
difference between fibrin degradation products and D-dier
FDPs can result from degradatin of either fibrin or fibrinogen
D-dimer is formed ONLY from fibrin; more specific indicator of both thrombin and plasmin activity
Lambert Eaton Syndrome. What kind of channels are dorked up?
voltage-gated calcium channels are dysfunctional –> acetylcholine release is impaired
what are cataracts?
opacifications of the lens
glare from headlights - problem
NMDA receptor and glutamate toxicity. What kind of receptor?
Two glutamate receptors: ionotropic (AMPA, kainate, NMDA) and metabotropic (GPCR: mGluR)
excitotoxicity- NMDA- permeable to Ca2+ and Na+.
***ligand-gated and voltage-gated
C perfringens
gram +
anaerobic
spore-forming
–> gas gangrene
Alpha toxin
Selective IgA deficiency –>
increased susceptibility to mucosal surface pathogens
Giardia lamblia- adheres to the surface of mucosa via a ventral sucking disk. IgA esp. important for this.
Ischemic colitis
usually due to atherosclerosis or other occulsion
older patients w/ acute/ intermittent cramping, ab pain, bloody diarrhea
splenic flexure adn sigmoid colon common due to watershed zones
end stage renal disease plus fractures, think
parathyroid hormone excess
people who live at high altitude will have
lower arterial O2 and higher hematocrit
