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
Q

are oculomotor symptoms common in B12 deficiency?

A

no

26
Q

lateral epicondylitis is caused by overuse of the…

A

extensors

27
Q

mutation in chronic myeloid leukemia?

A

BCR-ABL

28
Q

cause of leukemoid reaction?

A

infection

29
Q

LAP is ___ in a leukemoid reaction

A

high

30
Q

LAP is ____ in chronic myeloid leukemia

A

low

31
Q

basophilia is present in a leukemoid reaction TRUE OR FALSE

A

FALSE

32
Q

what is chronic myeloid leukemia a proliferation of ?

A

mature myeloid cells, especially granulocytes and precursors (basophils usually increased)

33
Q

acute leukemia vs chronic leukemia?

A

-acute leukemia has >20% BLASTS

34
Q

pathogenesis of bullous pemphigoid?

A

igG antibodies against hemidesmosomes in basement membrane

35
Q

what is clobetasol?

A

high potency glucocorticoid

36
Q

treatment of bullous pemphigoid?

A

high potency topical glucocorticoids

37
Q

chronic lymphocytic leukemia is the proliferation of…

A

naive B cells that coexpress CD5 and CD20

38
Q

complicatinos of chronic lymphocytic leukemia

A
  • hypogammaglobulinemia
  • acute hemolytic anemia
  • transformation to diffuse large B cell lymphoma (richter)
39
Q

presentation of alzheimers disease

A
  • early insidious short term memory loss
  • language deficits and spatial disorientation
  • late personality changes
40
Q

vascular dementia presentation

A
  • stepwise decline
  • early executive functino decline
  • cerebral infarction & other white matter changes on neuroimaging
41
Q

frontotemporal dementia presentation

A
  • early personality changes
  • apathy, disinhibition, compulsive behaviour
  • frontotemporal atrophy on imaging
42
Q

dementia with lewy bodies presentation

A
  • visual hallucinations
  • spontaneous parkinsonisn
  • fluctuating cognition
  • REM disorders
43
Q

normal pressure hydrocephalus presentation

A
  • ataxia
  • urinary incontinence
  • dilated ventricles on imaging
44
Q

prion disease presentation

A
  • behavioural changes
  • rapid progression
  • myoclonus/seizures
45
Q

presentation of onychomycosis

A

-extensive thickening and discoloration of toenails

46
Q

pathogenesis of breast milk jaundice

A

-unconjugated hyperbilirubinemia caused by increased-beta glucoronidase in breast milk

47
Q

when does breast milk jaundice peak?

A

2nd week of life

48
Q

gilbert syndrome causes high unconjugated/conjugated bilirubin?

A

UNconjugated

49
Q

crigler-najar syndrome causes high unconjugated/conjugated bilirubin?

A

UNconjugated

50
Q

when does physiologic jaundice occur?

A

the first few days of life and resolves in 1-2 weeks

51
Q

is physiologic jaundice conjugated or unconjugated?

A

unconjugated

52
Q

anasarca =

A

massive and generalized edema