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2. Osteoporosis his- trabecular and cortical bone lose mass and interconnection despite normal bone
to mineralization
assoc w/ Colles fracture- distal radial fracture; fracture of femoral neck
3. Gilbert Syn- mild dec UDP glucuronosyltransferase conjugation and impaired bilirubin uptake;
drome asymptomatic or mild jaundice>> inc unconjugated bilirubin w/o hemolysis; w/
fasting and stress
4. Crigler Najjar ABSENT UDP glucuronsyltransferase; early in life; die few years
find: jaundice, kernicterus (in brain) inc unconjugated bilirubin;
tx: plasmapheresis and phototherapy; type II respond phenobarbital
5. Dubin Johnson Conjugated hyperbilirubinemia b/c defective liver excretion;
grossly black liver
Benign
6. Rotor syndrome milder in presentation w/o black liver
impaired hepatic uptake and excretion
7. wilson Disease copper transporting ATPase; ATP7B on Chromosome 13
s/s: before 40 yo, liver dz, neurodisease, psych dz, Kayser Fleischer ring, hemolytic
anemia, renal dz;
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find: dec serum ceruloplasmin, inc urine copper
tx: chelation w/ penicillamine or Tridentine, oral zinc
8. Hemochromato- recessive, HFE, chromosome 6; abnormal iron sensing, increase intestinal absorb
sis
find: inc ferritin, inc iron, dec TIBC, inc transferrin saturation
identify w/ Prussian blue stain/ liver MRI
9. Hemochromato- after age 40
sis finds >20 iron;
triad: cirrhosis, DM, skin pigmentation; dilated cardiomyopathy, hypogonadism,
arhtropathy; HCC is common cause death
10. Treatment He- repeat phlebotomy, chelation deferasirox, deferoxamine, oral deferiprone
mochromatosis
11. Wolff Parkinson MC ventricular pre excitation syndrome
White Syndrome
abnml fast atria to ventricle (bundle of Kent); bypasses AV node>> ventricles begin
partially depolarization earlier (NOTED BY DELTA WAVE ON EKG) widened QRS and
shortened PR
12. Conduction path- SA node> atira> AV node> bundle HIS, R and L bundle branches> purkinje fibers>
way heart ventricles
L branch anterior/posterior fascicles
13. Edema inc capillary pressure
dec plasma proteins (dec oncotic capillary pressure)
inc capillary permeability
increase interstitial fluid colloid oncotic pressure
14. Celiac Disease setting: 14 mo kid losing weight eating lots of foods;
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histology: crypt abnormalities (hyperplasia); villous atrophy, lymphocytic infiltra-
tion
presents as malabsorbtion (diarrhea etc in kids)
in adults= short stature, anemia delayed puberty
15. Musculocuta- upper trunk compression cause injury; loss forearm flexion/supination; loss sen-
neous nerve sation over lateral forearm
C5-C7
16. Axillary nerve flat deltoid; loss arm abduction, loss sensation over deltoid and lateral arm
C5-C6
17. Radial C5-T1 mid shaft fracture humerus, compression axilla
find: dec grip, loss extension (wrist drop); loss sensation posterior arm, dorsal
hand
18. Median C5-T1 supracondylar fracture humerus (proximal) CTS, wrist laceration (distal)
ape hand pope's blessing
loss wrist flexion, flex of lateral fingers, thumb opposition, lumbricals 2nd and
3rd digit; loss sensation over thenar eminence and dorsal and palmar aspects of
lateral 3 1/2 fingers w/ proximal
19. Ulnar C8-T1 Fracture medial epicondyle humerus; fractured hook hamate (distal lesion)
ulnar claw on extension; radial deception wrist upon flexion (proximal lesion)