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Studying for Boards > Prep Questions > Flashcards

Prep Questions Flashcards

1
Q

FDA approved drug for adolescent and childhood depression

A

fluoxetine

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2
Q

This SSRI needs EKG monitoring

A

escitalopram (what specific monitoring do you need)

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3
Q

FDA approved for adolescent depression SSRI (two)

A

fluoxetine

escitalopram

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4
Q

hepatomegaly
renomegaly
recurrent hypoglycemia

A

glycogen storage disease type I

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5
Q

hypoglycemia

doll like facies

A

glycogen storage disease type I

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6
Q

hypoglycemia + lactic acidosis, hyperlipidemia, hypertriglyceridemia, and hyperuricemia

A

glycogen storage disease type I

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7
Q

inheritance pattern of glycogen storage disease type I

A

autosomal recessive

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8
Q

inheritance pattern gaucher disease

A

autosomal recessive

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9
Q

lysosomal storage disorder

coarsening facial features over time

A

hurler syndrome

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10
Q

lysosomal storage disorder

bone disease, hepatosplenomegaly, cytopenias, and pulmonary disease.

A

gaucher disease

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11
Q

inheritance hurler syndrome

A

autosomal recessive

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12
Q

lysosomal storage

umbilical and inguinal hernias, frequent upper respiratory infections, skeletal involvement (dysostosis multiplex), hearing loss, hepatosplenomegaly, valvular cardiac disease, and progressive intellectual disability

A

hurler syndrome

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13
Q

Infants with these disorders exhibit hypotonia, distinctive facies, poor feeding, seizures, and hepatic dysfunction. As the disease progresses, retinal dystrophy, sensorineural hearing loss, and progressive developmental disability occur.

A

paroxysmal biogenesis disorders

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14
Q

severe hypotonia, muscular weakness, cardiomegaly with progression to cardiac failure, failure to thrive, and respiratory distress

A

pompe disease

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15
Q

only lysosomal storage disorder that also is glycogen storage disorder

A

pompe disease

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16
Q

treatment for pompe disease

A

enzyme replacement

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17
Q

lysosomal storage disorder

labs show elevated creatine kinase level and urinary oligosaccharides

A

pompe disease

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18
Q

pompe disease confirmatory test

A

reduced acid α-glucosidase activity

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19
Q

management plan for prepubertal boys who are found to have bacterial epididymitis, epididymitis associated with a urinary tract infection, or recurrent epididymitis.

A

urology referral

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20
Q

when do you need urology for prepubertal boys with epididymitis

A
  • bacterial epididymitis
  • associated with UTI
  • recurrent
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21
Q

what premies get delayed dental eruption (age and weight cut offs)

A

< 1000 grams

< 30 weeks

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22
Q

definition delayed dental eruption

A

erupts >/= 6 months after expected

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23
Q

elevated BP definitions (percentiles, numbers)

A

90-95% ile

between 120/≤80 mm Hg and 129≤80 mm Hg

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24
Q

stage I HTN definition (percentiles/numbers)

A

≥95th percentile to <95th percentile + 12 mm Hg

130/80 to 139/89 mm Hg (whichever is lower)

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25
Q

stage II HTN definition (percentiles, numbers)

A

≥95th percentile + 12 mm Hg

> 140/90 mm Hg (whichever is lower)

26
Q

MCC nasal polyposis in children

A

CF

27
Q

mainstay tx of nasal polyps

A

steroids (intranasal spray preferred over systemic)

28
Q

inheritance fabry disease

A

X linked

29
Q

pain crises in childhood and adolescence, angiokeratomas, anhidrosis, and stroke in young adulthood

A

fabry disease

30
Q

ɑ-galactosidase A deficiency

A

fabry disease

31
Q

most common autoimmune disease with type 1 DM

A

celiac

32
Q

developmental disorder
long face
macroorchidism
prominent jaw

A

fragile X

33
Q

DNA repeat in fragile X

A

CGG

34
Q

hand biting and gaze aversion typical in this syndrome

A

fragile x

35
Q

almond-shaped eyes, thin upper lip and downturned mouth, hypogonadism, short stature, and small hands and feet

A

prader willi

36
Q

microdeletion on the paternal chromosome 15q11.2-q13

A

prader willi

37
Q

mutation of the MECP2 gene

A

rett syndrome

38
Q

deletion of chromosome band 17p11.2

A

smith-magenis syndrome

39
Q

self-hugging, pulling out fingernails and toenails, and insertion of foreign objects into their body.
frontal prominence and coarse facial features

A

smith-magenis syndrome

40
Q

vitamin deficiency with progressive ataxia

A

vitamin E

41
Q

adolescence with progressive ataxia in all extremities, diminished tendon reflexes, and lower extremity weakness.

A

freidrich ataxia

42
Q

neutropenia syndrome

exocrine pancreatic insufficiency and hematologic abnormalities, skeletal abnormalities

A

schwachmann-diamond

43
Q

neutrophil disorder with oculocutaneous albinism

A

chediak-higashi

44
Q

inheritance schwackmann diamond

A

autosomal recessive

45
Q

height less than what cm for boys and girls to indicate for growth hormone

A

boys < 63 cm

girls < 59 cm

46
Q

qualify for growth hormone for height if < this number of standard deviations below the mean

A

< 2.25 SD below the mean (1.2%)

47
Q

delayed puberty girls
1 - no menarche and no breast dev at age __ year
2 - no menarche but + breast dev at age __ year
3 - no menarche within __ years after thelarche

A

1 - 14 yrs
2 - 16 yrs
3.- 4 yrs

48
Q

pinworm tx

A

Albendazole, 400 mg orally once, repeat in 2 weeks
Mebendazole, 100 mg orally once, repeat in 2 to 4 weeks
Pyrantel pamoate, 11 mg/kg orally once (maximum dose, 1 g), repeat in 2 weeks

49
Q

mutations in ___ lead to ciliary dyskinesia

A

DNAh11 mutation

50
Q

what syndrome

situs inversus totalis, chronic sinusitis, and bronchiectasis

A

kartagner

51
Q

gold standard for the diagnosis of ciliary defects

A

electron microscopic analysis of ciliary samples extracted from the nose or airway

52
Q

LUMBAR association:

A 
Lower extremity hemangioma
Urogenital anomalies and Ulceration
Myelopathy
Bony deformities, 
Anorectal malformations and Arterial abnormalities
Renal anomalies
53
Q

PHACE association

A

Posterior fossa defects, Hemangiomas, Arterial anomalies, Cardiovascular abnormalities, Eye anomalies

54
Q

Pierre Robin sequence (cleft palate, glossoptosis, and micrognathia or retrognathia) and severe myopia or other ocular abnormalities

A

stickler syndrome

55
Q

palatal clefts are at increased risk for ____

A

chronic middle ear effusion and conductive hearing loss

56
Q

1st line tx graves disease

A

methimazole

57
Q

first line genetic tests for intellectual disability (2)

A

Chromosomal microarray and fragile X testing

58
Q

Nephrotic range proteinuria

A

spot urine (preferably a first-morning sample) protein to creatinine ratio greater than 2.0. (0.2-2 is nonnephrotic range)

59
Q

measles exposure treatment < or equal to 6 months old

A

immune globulin within 6 d exposure

60
Q

measles exposure treatment > 6-12 mo

A

MMR within 72 hrs or IG within 6 d exposure

61
Q

who needs repeat MMR

A

babies who get the first dose before first bday

Studying for Boards (2 decks)

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