rapid review 1

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theapk200
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234955
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rapid review 1
Updated:
2013-09-15 14:22:05
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  1. abd pain, hepatomegly and ascites is classical presentation of
    Budd chairi synd (post hepatic venous thrombosis)
  2. achilles tendon xanthoma is classical presentation of
    familial hypercholesterolemia - dec LDL recetor signaling
  3. adrenal hemorrhage, hypotension and DIC is classical presentation of
    Waterhouse - Friderichsen synd (meningococcemia)
  4. arachnodactyly, lens dislocation, aortic dissection, hyperflexible joints is classical presentation of
    marfan's synd (fibrillin defect)
  5. athelete with polycythemia is classical presentation of
    secondary to erythropoeitin inj
  6. back pain, fever, night sweats and weight loss is classical presentation of
    pott's disease (vertebral TB)
  7. bilateral hilar adenopathy, uveitis is classical presentation of
    sarcoidosis (non caseating granulomas)
  8. blue sclera is classical presentation of
    osteogenesis imperfecta (type I collagen defect)
  9. bluish line on gingiva is classical presentation of
    burton's line (lead poisoning)
  10. bone pain, bone enlargement, arthritis is classical presentation of
    paget's disease of bone (inc osteoblastic and clastic activity)
  11. bounding pulses, diastolic heart murmur, head bobbing is classical presentation of
    aortic regurgitation
  12. butterfly facial rash, raynaud's phenomenon in a young female is classical presentation of
    SLE
  13. cafe-au-lait spots, lisch nodules (iris hammartomas) is classical presentation of
    NF type I (+pheochromocytoma, optic gliomas)
  14. cafe-au-lait spots, polyostotic fibrous dysplasia, precoucious puberty, multiple endocrine abnormalities is classical presentation of
    McCune-Albright synd (mosaic G-protein signalling mutation)
  15. calf pseudohypertrophy is classical presentation of
    muscular dystrophy (most commonly Duchenne's - X linked recessive deletion of Dystrophin gene)
  16. cherry red spot on the macula is classical presentation of
    Tay Sachs (ganglioside accumulation) or Neimann-Pick (sphingomyelin accumulation), central retinal artery occlusion
  17. chest pain on exertion is classical presentation of
    angina (stable -with moderate exertion, unstable - with minimal exertion)
  18. chest pain, pericardial effusion/friction rib, persistent fever following MI is classical presentation of
    Dressler's synd (autoimmune - mediated post MI fibrinous pericarditis, 1-12 weeks after acute episode)
  19. child uses arms to stand up from squat is classical presentation of
    Gower's sign (Duchenne muscular dystrophy)
  20. child with fever later develops red rash on face that spreads to body is classical presentation of
    Slapped cheeks (erythema infectiosum/fifth disease: parvevirus B19)
  21. chorea, dementia, caudate degeneration is classical presentation of
    Huntington's disease (Autosomal dominant CAG repeat expansion)
  22. chronic exercise intolerance with myalgia, fatigue, painful cramps, myoglobinuria is classical presentation of
    McArdle's disease (muscle glycogen phosphorylase deficiency)
  23. cold intolerance is classical presentation of
    hypothyroidism
  24. conjugate lateral gaze palsy, horizontal diplopia is classical presentation of
    internuclear ophthalmoplegia (damage to MLF; bilateral-MS, unilateral - stroke)
  25. continous machinery heart murmur is classical presentation of
    PDA (closed with indomethacin; maintained/opened with misoprostol)
  26. cutaneous/dermal edema due to connective tissue deposition is classical presentation of
    myxedema (cause by hypothyroidism, Grave's disease [pretibial])
  27. dark purple skin/mouth nodules is classical presentation of
    kaposi's sarcoma (usually AIDS patients [MSM]: associated with HHV-8)
  28. deep, laboured breathing/hyperventilation is classical presentation of
    kussmaul breathing (DKA)
  29. dermatitis, dementia, diarrhea is classical presentation of
    pellagra (vit B3/niacin deficiency)
  30. dilated cardiomyopathy, edema, alcoholism or malnutrition is classical presentation of
    wet beriberi (thiamine/vit B1 deficiency)
  31. dog or cat bite resulting in infection is classical presentation of
    Pasteurella multocida (cellulitis at innoculation site)
  32. dry eyes, dry mouth, arthritis is classical presentation of
    Sjogren's synd (autoimmine destruction of exocrine glands)
  33. dysphagia (esophageal web), glossitis, Fe deficiency anemia is classical presentation of
    Plummer-Vinson synd (may progress to esophageal squamous cell carcinoma)
  34. elastic skin, hypermobility of joints is classical presentation of
    Ehlers-Danlos synd (type III collagen defect)
  35. enlarged, hard left supraclavicular node is classical presentation of
    Virchow's node (abdomina metastasis)
  36. erythroderma, lymphadenopathy, hepatosplenomegaly, atypical T cells is classical presentation of
    Sezary synd (cutaneous T cell lymphoma) or mycosis fungoides
  37. facial muscle spasm upon tapping is classical presentation of
    Chvostek's sign (hypocalcemia)
  38. fat, female, forty and fertile is classical presentation of
    cholelithiasis (gall stones)
  39. fever, chills, headache, myalgia following antibiotic treatment of syphilis is classical presentation of
    Jarisch-Herxheimer reaction (rapid lysis of spirochetes results in toxin release)
  40. fever, cough, conjunctivitis, coryza, diffuse rash is classical presentation of
    Measles (Morbillivirus)
  41. fever, night sweats, weight loss is classical presentation of
    B symptoms (staging) of lymphoma
  42. fibrous plaques in the soft tissues of penis is classical presentation of
    Peyronie's disease (connective tissue disease)
  43. gout, mental retardation, self mutilating behavior in a boy is classical presentation of
    Lesch-Nyhan synd (HGPRT deficiency, X linked recessive)
  44. green yellow rings around peripheral cornea is classical presentation of
    kayser-Fleischer rings (copper accumulation from Wilson's disease)
  45. hamartomatous GI polyps, hyerpigmentation of mouth/feet/hands is classical presentation of
    Peutz-Jeghers synd (inherited, benign polyposis can cause bowel obstruction; inc cancer risk, mainly GI)
  46. hepatosplenomegaly, osteoporosis, neurologic symptoms is classical presentation of
    Gaucher's disease (glucoceribrosidase deficiency)
  47. hereditary nephritis, sensorineural hearing loss, cataracts is classical presentation of
    Alport synd (mutation in α chain of collagen IV)
  48. hyperphagia, hypersexuality, hyperorality, hyperdocility is classical presentation of
    Kluver-Bucy synd (bilateral amygdala lesion)
  49. hyperreflexia, hypertonia, Babinski sign present is classical presentation of
    UMN damage
  50. hyporeflexia, hypotonia, atrophy, fasciculations is classical presentation of
    LMN damage
  51. hypoxemia, polycythemia, hypercapnia is classical presentation of
    "Blue bloater" (chronic bronchitis: hyperplasia of mucus cells)
  52. indurated, ulcerated genital lesion is classical presentation of
    • non painful: chancre (primary syphilis, Treponema pallidum)
    • painful, with exudate: chancroid (Haemophilus ducreyi)`
  53. infant with cleft lip/palate, microcephaly or holoprocencephaly, polydactyly, cutis aplasia is classical presentation of
    Patau's synd (trisomy 13)
  54. infant with failure to thrive, hepatosplenomegaly, and neurodegeneration is classical presentation of
    Neimann-Pick disease (genetic sphingomyelinase deficiency)
  55. infant with hypoglycemia, failure to thrive and hepatomegaly is classical presentation of
    Cori's disease (debranching enzyme deficiency)
  56. infant with microcephaly, rocker-bottom feet, clenched hands, and structural heart defects is classical presentation of
    edward's synd (trisomy 18)
  57. jaundice, palpable distended non-tender gallbladder is classical presentation of
    Courvoisier's sign (distal obstruction of biliary tree)
  58. large rash with bull's eye appearance is classical presentation of
    erythema chronicum migrans from Ixodes tick bite (Lyme disease: Borrelia)
  59. lucid interval after traumatic brain injury is classical presentation of
    epidural hematoma (middle meningeal artery rupture)
  60. male child, recurrent infection, no mature B cells is classical presentation of
    Bruton's disease (X linked agammaglobulinemia)
  61. mucosal bleeding and prolonged bleeding time is classical presentation of
    Glanzmann's thrombasthenia (defect in platelet aggregation due to lack of GpIIb/IIIa)
  62. muffled heart sounds, distended neck viens, hypotension is classical presentation of
    Beck's triad of cardiac tamponade
  63. multiple colon polyps, osteomas/soft tissue tumors, impacted/supernumeral teeth is classical presentation of
    Gardner's synd (subtype of FAP)
  64. myopathy (infantile hypertrophic cardiomyopathy), exercise intolerance is classical presentation of
    pompe's disease (lysosomal α-1,4-glucosidase deficiency)
  65. neonate with arm paralysis following difficult birth is classical presentation of
    Erb-Duchenne palsy (superior trunk [C5-C6] brachial plexus injury; waiter's tip)
  66. no lactation postpartum, absent menstruation, cold intolerance is classical presentation of
    Sheehan's synd (pituitary infarction)
  67. nystagmus, intention tremors, scanning speech, bilateral internuclear ophthalmoplegia is classical presentation of
    multiple sclerosis
  68. oscillating slow/fast breathing is classical presentation of
    Cheyne-Strokes respiration (central apnea in CHF or inc intracranial pressure)
  69. painful blue fingers/toes, hemolytic anemia is classical presentation of
    cold agglutinin disease (autoimmune hemolytic anemia cause by Mycoplasma pneumoniae, infectious mononucleosis)
  70. painful, raised red lesions on pad of fingers/toes is classical presentation of
    Osler's nodes (infective endocarditis, immune complex deposition)

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