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
MEN2B associations
- medullary thyroid carcinoma
- pheochromocytoma
- mucosal neuromas/marfinoid habitus
what causes wernicke encephalopathy?
-thiamine deficiency (alcoholism, malnutrition, hyperemesisi)
presentation of wernicke encephalopathy ?
- encephalopathy
- oculomotor dysfunction (horizontal nystagmus, bilateral abducens palsy)
- postural gait ataxia
treatment of wernicke encephalopathy
IV thiamine followed by glucose
are oculomotor symptoms common in B12 deficiency?
no
lateral epicondylitis is caused by overuse of the…
extensors
mutation in chronic myeloid leukemia?
BCR-ABL
cause of leukemoid reaction?
infection
LAP is ___ in a leukemoid reaction
high
LAP is ____ in chronic myeloid leukemia
low
basophilia is present in a leukemoid reaction TRUE OR FALSE
FALSE
what is chronic myeloid leukemia a proliferation of ?
mature myeloid cells, especially granulocytes and precursors (basophils usually increased)
acute leukemia vs chronic leukemia?
-acute leukemia has >20% BLASTS
pathogenesis of bullous pemphigoid?
igG antibodies against hemidesmosomes in basement membrane
what is clobetasol?
high potency glucocorticoid
treatment of bullous pemphigoid?
high potency topical glucocorticoids
chronic lymphocytic leukemia is the proliferation of…
naive B cells that coexpress CD5 and CD20
complicatinos of chronic lymphocytic leukemia
- hypogammaglobulinemia
- acute hemolytic anemia
- transformation to diffuse large B cell lymphoma (richter)
presentation of alzheimers disease
- early insidious short term memory loss
- language deficits and spatial disorientation
- late personality changes
vascular dementia presentation
- stepwise decline
- early executive functino decline
- cerebral infarction & other white matter changes on neuroimaging
frontotemporal dementia presentation
- early personality changes
- apathy, disinhibition, compulsive behaviour
- frontotemporal atrophy on imaging
dementia with lewy bodies presentation
- visual hallucinations
- spontaneous parkinsonisn
- fluctuating cognition
- REM disorders
normal pressure hydrocephalus presentation
- ataxia
- urinary incontinence
- dilated ventricles on imaging
prion disease presentation
- behavioural changes
- rapid progression
- myoclonus/seizures
presentation of onychomycosis
-extensive thickening and discoloration of toenails
pathogenesis of breast milk jaundice
-unconjugated hyperbilirubinemia caused by increased-beta glucoronidase in breast milk
when does breast milk jaundice peak?
2nd week of life
gilbert syndrome causes high unconjugated/conjugated bilirubin?
UNconjugated
crigler-najar syndrome causes high unconjugated/conjugated bilirubin?
UNconjugated
when does physiologic jaundice occur?
the first few days of life and resolves in 1-2 weeks
is physiologic jaundice conjugated or unconjugated?
unconjugated
anasarca =
massive and generalized edema
