DIT rapid fire facts Flashcards
(83 cards)
boy with self mutilating behavior, intellectual disability, gout
Lesch-Nyhan Syndrome
orotic acid in urine + elevates serum ammonia
Ornithine Transcarbamylase Deficiency
orotic acid in urine + nml serum ammonia
Orotic Aciduria
megaloblastic anemia that does not improve with folate & B12
Orotic Aciduria
bluish colored lines on gingivae
burtons lines (lead lines)
treatment of choice for Rickets or Osteomalacia
vitamin D
swollen gums, poor wound healing, bleeding mucus membranes, spots on skin
Scurvy
vitamin C deficiency
most common vitamin deficiency in US
folate deficiency
hypersegmented neutrophils
Megaloblastic Anemia
dilated cardiomyopathy, edema, polyneuropathy
Wet Beriberi (B1 / Thiamine deficiency)
most common cause of neural tube defects
folate deficiency
most common preventable cause of congenital malformations in US
alcohol use during pregnancy
hyperflexible joints, arachnodactyly, aortic dissection, lens dislocation
Marfan Syndrome
fibrillin
hereditary nephritis, cataracts, sensorineural hearing loss
Alport Syndrome (type IV collagen)
chronic sinusitis, infertility, situs inversus
Kartagener Syndrome
elevated D-dimer
PE, DVT (clot)
hypercoagulability, endothelial damage, stasis of blood
Virchow’s Triad
blue bloater
Chronic Bronchitis (COPD) - hypoxemia & hypercapnia
pink puffer
Emphysema (COPD)
- dyspnea & hyperventilation
curshmann spirals
mucus plugs in Asthma
bilateral hilar adenopathy, uveitits
Sarcoidosis
vasculitis, glomerulonephritis
Goodpasture
Wegener (granulomatosis with polyangiits)
anti-glomerular basement membrane antibodies
Goodpasture
honeycomb lung on XR
Idiopathic Pulmonary Fibrosis