Jan 7 2021 Flashcards

1
Q

Clinical features of osteogenesis imperfecta

A
  • frequent fractures
  • blue sclera
  • hearing loss and speech delay
  • short to normal stature
  • dentogenesis imperfecta
  • jiont hypermobility
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2
Q

Duchennes and becker muscular dystrophy are associated with mutations in…

A

dystrophin

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3
Q

Marfans has mutations in..

A

fibrillin-1

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4
Q

Achondroplasia is associated with mutations in…..

A

FGFR-3

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5
Q

what causes hypersensitivity pneumonitis?

A

-an exaggerated response to an inhaled antigen

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6
Q

presentation of acute hypersensitivity pneumonitis

A

Abrupt-onset fever, chills, cough, SOB, leukocytosis

  • episodes recurrent and self-resolving
  • fine crackles on lung auscultation
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7
Q

Chest XRAY findings of acute hypersensitivity pneumonits

A

scattered micronodular interstitial opacities

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8
Q

presentation of chronic hypersensitivity pneumonitis

A
  • progressive cough, dyspnea, fatigue, weight loss

- hypoxemia that worsens with exertion

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9
Q

Chest XRAY findings of chronic hypersensitivity pneumonitis

A

diffuse reticular interstitial opacities

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10
Q

treatment of hypersensitivity pneumonitis

A

removal of offending antigen

-glucocorticoids and lung transplant for chronic form

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11
Q

what pattern of PFT is seen with hypersensitivity pneumonitis?

A

restrictive

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12
Q

what is anchoring bias

A

-relying on INITIAL impressions to make a diagnosis

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13
Q

treatment of giardia

A

tinadazole OR metronidazole

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14
Q

pathogenesis of giardia

A

-disruption of epithelial tight junctions in enterocytes leading to malabsorption

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15
Q

is ETEC diarrhea watery of fatty?

A

watery

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16
Q

ETEC usually self resolves within…

A

5 days

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17
Q

presentation of retinal detachment

A
  • flashes of light and floaters in vision

- ‘curtain coming down’

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18
Q

opthalamic exam findings of retinal detachment

A

grey, elevated retina

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19
Q

MEN1 associations

A
  • pituitary tumours
  • primary hyperthyroidism
  • pancreatic tumours
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20
Q

MEN2A associations

A
  • medullary thyroid carcinoma
  • primary hyperparathyroidism
  • pheochromocytoma
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21
Q

MEN2B associations

A
  • medullary thyroid carcinoma
  • pheochromocytoma
  • mucosal neuromas/marfinoid habitus
22
Q

what causes wernicke encephalopathy?

A

-thiamine deficiency (alcoholism, malnutrition, hyperemesisi)

23
Q

presentation of wernicke encephalopathy ?

A
  • encephalopathy
  • oculomotor dysfunction (horizontal nystagmus, bilateral abducens palsy)
  • postural gait ataxia
24
Q

treatment of wernicke encephalopathy

A

IV thiamine followed by glucose

25
are oculomotor symptoms common in B12 deficiency?
no
26
lateral epicondylitis is caused by overuse of the...
extensors
27
mutation in chronic myeloid leukemia?
BCR-ABL
28
cause of leukemoid reaction?
infection
29
LAP is ___ in a leukemoid reaction
high
30
LAP is ____ in chronic myeloid leukemia
low
31
basophilia is present in a leukemoid reaction TRUE OR FALSE
FALSE
32
what is chronic myeloid leukemia a proliferation of ?
mature myeloid cells, especially granulocytes and precursors (basophils usually increased)
33
acute leukemia vs chronic leukemia?
-acute leukemia has >20% BLASTS
34
pathogenesis of bullous pemphigoid?
igG antibodies against hemidesmosomes in basement membrane
35
what is clobetasol?
high potency glucocorticoid
36
treatment of bullous pemphigoid?
high potency topical glucocorticoids
37
chronic lymphocytic leukemia is the proliferation of...
naive B cells that coexpress CD5 and CD20
38
complicatinos of chronic lymphocytic leukemia
- hypogammaglobulinemia - acute hemolytic anemia - transformation to diffuse large B cell lymphoma (richter)
39
presentation of alzheimers disease
- early insidious short term memory loss - language deficits and spatial disorientation - late personality changes
40
vascular dementia presentation
- stepwise decline - early executive functino decline - cerebral infarction & other white matter changes on neuroimaging
41
frontotemporal dementia presentation
- early personality changes - apathy, disinhibition, compulsive behaviour - frontotemporal atrophy on imaging
42
dementia with lewy bodies presentation
- visual hallucinations - spontaneous parkinsonisn - fluctuating cognition - REM disorders
43
normal pressure hydrocephalus presentation
- ataxia - urinary incontinence - dilated ventricles on imaging
44
prion disease presentation
- behavioural changes - rapid progression - myoclonus/seizures
45
presentation of onychomycosis
-extensive thickening and discoloration of toenails
46
pathogenesis of breast milk jaundice
-unconjugated hyperbilirubinemia caused by increased-beta glucoronidase in breast milk
47
when does breast milk jaundice peak?
2nd week of life
48
gilbert syndrome causes high unconjugated/conjugated bilirubin?
UNconjugated
49
crigler-najar syndrome causes high unconjugated/conjugated bilirubin?
UNconjugated
50
when does physiologic jaundice occur?
the first few days of life and resolves in 1-2 weeks
51
is physiologic jaundice conjugated or unconjugated?
unconjugated
52
anasarca =
massive and generalized edema