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  1. This defect seen below is associated with which trisomy?
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    • Patau (trisomy 13)
    • Cleft lip
  2. Describe the presentation of Patau syndrome.
    • HEAD: Holoprosencephaly, Microcephaly, Micropthalmia, Cleft lip/ palate, Cyclops, malformed/absent nose, Cutis aplasia
    • EXTREMETIES: Polydactaly, Rocker-bottom feet
    • GI: Omphalocele, umbilical hernia, Pyloric stenosis
  3. This defect below is characteristic of which disease?
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    • Cutis aplasia- absence of portion of skin
    • Patau syndrome/ Trisomy 13
  4. After administration of vasopressin, urine osmolality increases greater than 50%. What is the pathology?
    • Central DI
    • ↓ADHas a result of a pituitary tumor, autoimmune, trauma, surgery ect
  5. After administration of vasopressin, urine osmolality increases with minimal change of less than 50%. What is the pathology?
    • Nephrogenic DI
    • ADH receptor mutation 2° to hypercalcemia, lithium, demeclocyline
  6. After administration of vasopressin, urine osmolality increases by less than 10%. What is the pathology?
    • Normal: <10% increase
    • Primary polydipsia: <10% increase 
    • Differentiate between urine osmolality (concentration). If normal >800mOsm/L, if polydipsoa >500mOsm/L.
  7. How do we treat Central DI?
    • Intranasal desmopressin acetate
    • Hydration
  8. How do we treat Nephrogenic DI?
    • Hydrochlorothiazide
    • Indomethacin- inhibit prostaglandins (which inhibit ADH)
    • Amiloride- K+ sparing diuretic
  9. What is the use of the Analysis of variance test?
    Checks differences between means of 3 or more groups
  10. What is the use of a t-test?
    Checks differences between means of 2 groups
  11. Electron microscope identifies this glomerular disorder.
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    • IgA nephropathy/Berger disease
    • EM- mesangial immune complex deposits
  12. Describe the presentation of IgA nephropathy.
    • Patient presents with painless hematuria (cola colored) DAYS after upper respiratory tract infection
    • (vs APSGN which occurs WEEKS after)
    • RBC casts
    • Associated with gastroenteritis.
    • IF- IgA deposits in mesangium
  13. What causes a Volvulus?
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    • Malrotation
    • Failure of the midgut to rotate counterclockwise as it returns to the abdominal cavity.
    • Twisting of a bowel around its mesentery; can lead to obstruction and infarction.
  14. The image below is characteristic of which disorder?
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    • Iron deficiency anemia
    • Spoon nails/ koilonycha
  15. Describe the type of anemia in Iron deficiency anemia.
    Microcytic hypochromic
  16. What is the tensilon test?
    • Tensilon/ Edrophonium test
    • Anticholinesterase = ↑Ach
    • Improves muscle activity in Myasthenia gravis ppts
  17. What is type II hypersensitivity disorder?
    IgG, IgM antibodies bind to cell surface antigens → destruction
  18. What type of hypersensitivity is Myasthenia gravis?
    Type II (antibody mediated)
  19. Describe the pathophysiology of Goodpasture's disease?
    • Autoantibodies against alpha-3 type IV collagen
    • Anti-basement membrane antibodies
  20. What causes cystic fibrosis?
    • 3 base pair deletion of Phenylalanine in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene at aino acid position 508.
    • This mutation impairs posttranslational processing of CFTR, resulting in the shunting of CFTR toward the proteasome for degradation.
  21. What can precipitate a Wenicke encephalopathy?
    Giving IV dextrose without prior thiamine.
  22. What does the arrow below point to?
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    Mamillary bodies
  23. What causes coal worker's pneumoconiosis?
    • Prolonged coal dust exposure → macrophages phagocytize dust particles (<2μm) →  release cytokines which induce injury and inflammation 
    • Growth factors stimulate fibroblasts to proliferate and produce collagen (fibrosis)
  24. Describe the cause and presentation of the pathology below.
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    • Apple peel atresia/ Jejunal, ileal, colonic atresia
    • Due to vascular accident -> Ischemia/obliteration of segment of bowel
    • Presents with bilious vomiting (greenish-yellowish) after first 24 hrs of life
    • Absence of large segment of small bowel
    • Blind ending proximal jejunum
    • Ileum winds/ spiral around vessel

  25. What causes pagets disease of the bone?
    Excessive osteoclastic resorption
  26. Which factors play an important role in osteoclastic differentiation?
    • M-CSF - Macrophage colony-stimulating factor
    • RANKL- Receptor for activated nuclear factor kappa beta- ligand 
Card Set:
2015-01-27 05:10:15
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