Prep Questions

Question 1

FDA approved drug for adolescent and childhood depression

Answer 1

fluoxetine

Question 2

This SSRI needs EKG monitoring

Answer 2

escitalopram (what specific monitoring do you need)

Question 3

FDA approved for adolescent depression SSRI (two)

Answer 3

fluoxetine

escitalopram

Question 4

hepatomegaly
renomegaly
recurrent hypoglycemia

Answer 4

glycogen storage disease type I

Question 5

hypoglycemia

doll like facies

Answer 5

glycogen storage disease type I

Question 6

hypoglycemia + lactic acidosis, hyperlipidemia, hypertriglyceridemia, and hyperuricemia

Answer 6

glycogen storage disease type I

Question 7

inheritance pattern of glycogen storage disease type I

Answer 7

autosomal recessive

Question 8

inheritance pattern gaucher disease

Answer 8

autosomal recessive

Question 9

lysosomal storage disorder

coarsening facial features over time

Answer 9

hurler syndrome

Question 10

lysosomal storage disorder

bone disease, hepatosplenomegaly, cytopenias, and pulmonary disease.

Answer 10

gaucher disease

Question 11

inheritance hurler syndrome

Answer 11

autosomal recessive

Question 12

lysosomal storage

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

Answer 12

hurler syndrome

Question 13

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.

Answer 13

paroxysmal biogenesis disorders

Question 14

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

Answer 14

pompe disease

Question 15

only lysosomal storage disorder that also is glycogen storage disorder

Answer 15

pompe disease

Question 16

treatment for pompe disease

Answer 16

enzyme replacement

Question 17

lysosomal storage disorder

labs show elevated creatine kinase level and urinary oligosaccharides

Answer 17

pompe disease

Question 18

pompe disease confirmatory test

Answer 18

reduced acid α-glucosidase activity

Question 19

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

Answer 19

urology referral

Question 20

when do you need urology for prepubertal boys with epididymitis

Answer 20

• bacterial epididymitis
• associated with UTI
• recurrent

Question 21

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

Answer 21

< 1000 grams

< 30 weeks

Question 22

definition delayed dental eruption

Answer 22

erupts >/= 6 months after expected

Question 23

elevated BP definitions (percentiles, numbers)

Answer 23

90-95% ile

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

Question 24

stage I HTN definition (percentiles/numbers)

Answer 24

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

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

Question 25

stage II HTN definition (percentiles, numbers)

Answer 25

≥95th percentile + 12 mm Hg | > 140/90 mm Hg (whichever is lower)

Question 26

MCC nasal polyposis in children

Answer 26

CF

Question 27

mainstay tx of nasal polyps

Answer 27

steroids (intranasal spray preferred over systemic)

Question 28

inheritance fabry disease

Answer 28

X linked

Question 29

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

Answer 29

fabry disease

Question 30

ɑ-galactosidase A deficiency

Answer 30

fabry disease

Question 31

most common autoimmune disease with type 1 DM

Answer 31

celiac

Question 32

developmental disorder long face macroorchidism prominent jaw

Answer 32

fragile X

Question 33

DNA repeat in fragile X

Answer 33

CGG

Question 34

hand biting and gaze aversion typical in this syndrome

Answer 34

fragile x

Question 35

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

Answer 35

prader willi

Question 36

microdeletion on the paternal chromosome 15q11.2-q13

Answer 36

prader willi

Question 37

mutation of the MECP2 gene

Answer 37

rett syndrome

Question 38

deletion of chromosome band 17p11.2

Answer 38

smith-magenis syndrome

Question 39

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

Answer 39

smith-magenis syndrome

Question 40

vitamin deficiency with progressive ataxia

Answer 40

vitamin E

Question 41

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

Answer 41

freidrich ataxia

Question 42

neutropenia syndrome | exocrine pancreatic insufficiency and hematologic abnormalities, skeletal abnormalities

Answer 42

schwachmann-diamond

Question 43

neutrophil disorder with oculocutaneous albinism

Answer 43

chediak-higashi

Question 44

inheritance schwackmann diamond

Answer 44

autosomal recessive

Question 45

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

Answer 45

boys < 63 cm | girls < 59 cm

Question 46

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

Answer 46

< 2.25 SD below the mean (1.2%)

Question 47

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

Answer 47

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

Question 48

pinworm tx

Answer 48

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

Question 49

mutations in ___ lead to ciliary dyskinesia

Answer 49

DNAh11 mutation

Question 50

what syndrome | situs inversus totalis, chronic sinusitis, and bronchiectasis

Answer 50

kartagner

Question 51

gold standard for the diagnosis of ciliary defects

Answer 51

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

Question 52

LUMBAR association:

Answer 52

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

Question 53

PHACE association

Answer 53

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

Question 54

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

Answer 54

stickler syndrome

Question 55

palatal clefts are at increased risk for ____

Answer 55

chronic middle ear effusion and conductive hearing loss

Question 56

1st line tx graves disease

Answer 56

methimazole

Question 57

first line genetic tests for intellectual disability (2)

Answer 57

Chromosomal microarray and fragile X testing

Question 58

Nephrotic range proteinuria

Answer 58

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

Question 59

measles exposure treatment < or equal to 6 months old

Answer 59

immune globulin within 6 d exposure

Question 60

measles exposure treatment > 6-12 mo

Answer 60

MMR within 72 hrs or IG within 6 d exposure

Question 61

who needs repeat MMR

Answer 61

babies who get the first dose before first bday