Connective tissue disorders-ICM

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  1. Osteomalacia
    • Osteomalacia--defective mineralization due to low Ca
    • Osteopenia--low Bone Mineral Density
    • Osteoporosis--low bone mass
    • Osteopetrosis--defective resorption-fragile bone
  2. Genetic deficiency of Carbonic Anhydrase is seen in what bone condition?
  3. What hematological features are seen in Petrosis?
    • anemia
    • thrombocytopenia
    • leukopenia
    • extramedullary hematopeoisis
  4. Erlenmeyer Flak bones that flare out are seen in what condition?
  5. Osteitis Fibrosa Cystica is another term for what?
    adenoma of the parathyroid gland producing high PTH, high ALP, high Ca and low PO4
  6. Which CTD has blue sclera?
    dislocated lens?
    • Osteogenesis Imperfecta
    • Marfans
  7. What kind of congenital cardiac anomalies are seen in 22 q11
    • Truncus arteriosus
    • tetrology of fallot
  8. Down syndrome?
    • ASD
    • VSD
    • AV septal defect
    • endocardial cushion defect
  9. Turner syndrome cardiac defect?
    coarctation of aorta
  10. Diabetic mother congenital cardiac defect?
    transposition of great vessels
  11. what kind of congential cardiac condition is in Marfans?
    aortic dissection
  12. chromosome for marfans?
  13. What condition produces a plucked chicken skin appearance due to fragmentation and mineralization of elastin fibers in skin?
    Pseudoxanthoma Elasticum
  14. Mutation in achondroplasia?
    constitutional activation of FGFR3 inhibits chondrocyte proliferation
  15. HLA- DR4 is associated with what 2 conditions?
    • RA
    • DM
  16. What is the Rheumatoid factor?
    IgM ab against the fc portion of the IgG
  17. Felty syndrome?
    RA complication producing agranulocytosis
  18. RA factor is absent in what version of RA?
  19. Seronegative arthropahties?
    • Psoriasis
    • Ankylosing spondylitis
    • IBD
    • Reiters syndrome
  20. Symptoms of SLE?
    • Immunoglobulins
    • Malar rash
    • Discoid rash
    • Ab to dsDNA, smith
    • Mucositis
    • Neurological
    • Serositis-pleuritis, pericardiatis
    • Hematological-anemia, leukopenia, thrombocytopeni
    • Arthritis
    • Renal
    • Photosensitivity
  21. Cause for infertility in SLE?
    anti-phospholipid syndrome
  22. What antibodies are specific for SLE?
    anti-dsDNA antibodies
  23. What malignancy are Sjogrens pts predisposed to?
    B cell lymphoma
  24. CREST syndrome?
    • Calcinosis
    • Reynauds phenomenon
    • Esophageal Dysmotility
    • Sclerodactyly
    • Telangiectasia
  25. How is Polymyositis different from Dermatomyositis?
    • Polymyositis and Dermatomyositis both have proximal muscle weakness
    • Dermatomyositis has a peliotrope Rash
  26. Mixed Connective Tissue Disease is what?
    combination of SLE, Systemic sclerosis, polymyositis
  27. What antibodies are seen in Mixed Connective Tissue Disease?
    • Anti-Ribonucleotide ab
    • Anti-U1 RNP
  28. What bone is involved in Osteoporosis?
  29. What effect does estrogen have on the RANKL receptors?
    high estrogen leads to low RANKL receptor expression
  30. What paratmeter is raised in Pagets disaese?
    Pattern of Bone?
    • ALP
    • Mosaic Pattern
  31. Complication of Pagets disease?
  32. Possible etiology of Paget's Disease?
    • reaction to paramyxovirus
    • RANKL mutation on chromosome 18
  33. Rx of Pagets disease of bone?
  34. Osteopetrosis and osteitis Deformans can both present how?
    nerve entrapment
  35. Where is a brown tumor seen?
    in osteitis fibrosa cystica--increase resorption is followed by fibroblasts depositing collagen and turning the hemorrhage +necrosis into a brown tumor
  36. What kind of metastasis does a Lung and kidney cancer do on the bone?
  37. What kind of metastasis does prostate cancer do on the bone?
  38. WHat kind of cancer does breast cancer do on the bone?
    osteoblastic and osteolytic
  39. How does osteosarcoma look on the x ray?
    sunburst and codman triangle from lifting of periosteum
  40. LM of Ewings sarcoma?
    anaplastic small blue round cells
  41. What kinds of proteins are seen in the urine in MM?
    bence-jones proteins
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Connective tissue disorders-ICM

Connective tissue disorders-ICM
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