Jan 7 2021 Flashcards
Clinical features of osteogenesis imperfecta
- frequent fractures
- blue sclera
- hearing loss and speech delay
- short to normal stature
- dentogenesis imperfecta
- jiont hypermobility
Duchennes and becker muscular dystrophy are associated with mutations in…
dystrophin
Marfans has mutations in..
fibrillin-1
Achondroplasia is associated with mutations in…..
FGFR-3
what causes hypersensitivity pneumonitis?
-an exaggerated response to an inhaled antigen
presentation of acute hypersensitivity pneumonitis
Abrupt-onset fever, chills, cough, SOB, leukocytosis
- episodes recurrent and self-resolving
- fine crackles on lung auscultation
Chest XRAY findings of acute hypersensitivity pneumonits
scattered micronodular interstitial opacities
presentation of chronic hypersensitivity pneumonitis
- progressive cough, dyspnea, fatigue, weight loss
- hypoxemia that worsens with exertion
Chest XRAY findings of chronic hypersensitivity pneumonitis
diffuse reticular interstitial opacities
treatment of hypersensitivity pneumonitis
removal of offending antigen
-glucocorticoids and lung transplant for chronic form
what pattern of PFT is seen with hypersensitivity pneumonitis?
restrictive
what is anchoring bias
-relying on INITIAL impressions to make a diagnosis
treatment of giardia
tinadazole OR metronidazole
pathogenesis of giardia
-disruption of epithelial tight junctions in enterocytes leading to malabsorption
is ETEC diarrhea watery of fatty?
watery
ETEC usually self resolves within…
5 days
presentation of retinal detachment
- flashes of light and floaters in vision
- ‘curtain coming down’
opthalamic exam findings of retinal detachment
grey, elevated retina
MEN1 associations
- pituitary tumours
- primary hyperthyroidism
- pancreatic tumours
MEN2A associations
- medullary thyroid carcinoma
- primary hyperparathyroidism
- pheochromocytoma