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1
Q

baby with shock and unable to place peripheral central line - next step

A

intraosseous lines (usually at proximal tibia due to its wide, flat surface and distance from the sternum in case cardiopulm resusciatation is perfomed simultaneously

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2
Q

contraindications of intraosseous

A
  1. infections (cellulitis overlying the access site
  2. fractrue or previous attempts in the chosen extremity
  3. bone fragility
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3
Q

signs of neonatal dehydration

A
  1. decreased wet diapers
  2. absence of tears
  3. sunken fontanelle
  4. dry mucous membranes
  5. decreased skin tugor
  6. delayed capillary refill
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4
Q

neonatal dehydration - management of weight loss

A

less than 7%: continue exclusive breastfeeding, follow up at age 10-14 days to check
7 or more: asses for oromotor dysfunction, assess for lactation failure, daily wights, consider formula supplementation
HEALTY INFANTS NORMALLY LOSES 7% OF WEIGHT IN FIRST 5 DAYS

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5
Q

betwetting is normal until …. years old

A

5

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6
Q

Marfan vs homocystinuria in lens

A

both have dislocation
Marfan: up and out
homocyst: down and in

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7
Q

homocystinuria - presentation

A 
increased homocysteine in urine
osteoporosis
Marfanoid habitus
lens dislocation 
cardiovascular effects
kyphosis
intellectual disability
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8
Q

a complication of henosch schonlein purpura

A

increasd risk for ileoileal intussuscpetion due to intestinal edema and bleeding

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9
Q

Prader willi

A

hypotonia, hyperphagia, obesity –> risk for sleep apnea, DM, gastric rupture, death by chocking
deletion of paternal 15q11-q13

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10
Q

McCune-Albright syndrome

A
  1. peripheral precocious puberty
  2. irregular cafe au lait macules
  3. polyostotic fibrous dysplasia (reccurent fractures) GNAS gene mutation –> overproduction o pituitary hormones
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11
Q

muscular dystrophies - screening

A

increased CPK and alodase

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12
Q

muscular dystropy - confirm diagnosis

A

genetic studies (muscle biopsy with absent of dystrophin)

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13
Q

Down syndrome associated diseases

A
  1. Duodenal atresia
  2. Hirschsprung disease
  3. Congenital heart disease (especially ostium primum-type ASD)
  4. Increased risk for ALL
  5. Increased risk for AML
  6. Increased risk for Alzheimer (>35)
  7. atlantoaxial instability
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14
Q

Down syndrome phenotype

A
  1. Intellectual disability
  2. Flat facies
  3. Prominent epicanthal folds
  4. Gap between 1st 2 toes
  5. Brushfield spots
  6. Single palmar crease
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15
Q

First trimester findings in down syndrome

A
  1. Increased nuchal translucency (UL)
  2. Hypoplastic nasal bone (UL)
  3. Decreased serum PAPPA-A
  4. Increased β-hCG
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16
Q

Second-trimester QUAD screen shows in Down syndrome

A
  1. Decreased a-fetoprotein
  2. Increased inhibin A
  3. Decreased estriol
  4. Increased β-hCG
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17
Q

Edwards syndrome also called

A

trysomy 18

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18
Q

Edwards syndrome first trimester (Lab)

A

Decreased PAPPA-A and free β-hCG

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19
Q

Second trimester QUAD screen show of Edward’s syndrome

A
  1. Decreased α-fetoprotein
  2. Decreased β-hCG
  3. Decreased estriol
  4. Decreased or normal inhibin A
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20
Q

Edward syndrome findings

A
  1. SEVERE intellectual disability
  2. Micrognathia (small jaw)
  3. Clenched hands with overlapping finbers
  4. Low set ears
  5. Congenital heart disease
  6. Prominent occiput
  7. Rocker-bottom feet
21
Q

Patau syndrome also called

A

Trisomy 13

22
Q

First trimester pregnancy screen show for Platau syndrome

A
  1. Decreased free β-hCG
  2. Decreased PAPPA-A
  3. Increased nuchal translucency
23
Q

Platau syndrome findings

A
  1. SEVERE intellectual finindings
  2. Rocker bottom feet
  3. Micropthalmia
  4. Microcephaly
  5. Cleft lip/Palate
  6. Holoprosencephaly
  7. Polydactyly
  8. Congenital heart disease
24
Q

Cri-du-chat findings

A
  1. Microcephaly
  2. Intellectual disability (moderate to severe)
  3. VSD
  4. Epicanthal folds
  5. High-pitched crying/mewing
25
Q

Williams syndrome findings

A
  1. Distinctive “elfin” faces
  2. Intellectual disability
  3. Hypercalcemia (increased sensitivity to vit D)
  4. Well developed verbal skills
  5. Extreme friendliness with strangers
  6. Cardiovascular problems
26
Q

kallman - mode of inheritance

A

X

27
Q

MC type od spinocerebellar ataxias

A

Friedreich ataxia

28
Q

general check up in teenagers

A

all sexually active under 24 should be screened or Chlamydia + Neisseria by PCR
- Athletes with RF for sudden death should undergo cardiac evaluation
Random urine toxicology is generally not recommended

29
Q

check lipid profile in teenagers?

A

at age 9-11 and at age 17-21 as lipid levels are relatively stable prior to and after puberty

30
Q

transient tachypnea of the newborn - X-ray

A

fluid in interlobular fissures

31
Q

HSV - neonatal conjunctivitis - treatment

A
  • systemic acyclovir

- topical vidarabine

32
Q

MC abd mass

A

Wilms

33
Q

omphalocele is highly associated with

A

Edward (18)

34
Q

emancipated minor

A
  1. homelss
  2. parent
  3. married
  4. military service
  5. financially independent
  6. high school graduate
35
Q

midecally emancipated minor

A
  1. emergency care
  2. STD
  3. substance abuse
  4. pregnancy care
  5. contraception
36
Q

how many parents are required for a non-emergent medical intervention

A

only 1

37
Q

nonemergency situation in which parent refuses potentially life saving treatment for the child (eg chemo in cancer) –> …

A

court order mandating treatment

38
Q

pink stains or brick dust in neonatal diapers?

A

uric acid crystals: excretion is esp high at birth and decreases until adolescence, when adult levels are observed –> commonly seen during the 1st yeak as the mother’s milk coming in, or in later months with the morning void after the infant begins to sleep through the night

39
Q

Marfan mutation

A

fibrillin -1

40
Q

Turner syndrome - fractures?

A

common osteoporotic fractures due to absence of estrogens

41
Q

accidental diagnosis with urehtritis (chlam or neisseria) next step

A

antibiotics immediately and refrain from sex until treatment is complete and symptoms resolved
all sex partners from the preceding 2 months should also be tested and treated for infection

42
Q

Most common clinical manifestations of Ehlers-Danlos syndrome

A
  1. Hyperextensible skin
  2. Tendency to bleed (easy bruising)
  3. Hypermobile joints
43
Q

zika - congenital defects

A

microcephaly, hypertonia, contractures, ocular abnormalities, hearing loss

44
Q

When babbling

A

6 months

45
Q

When response to name

A

6 months

46
Q

healthy infants norally lose up to ….% weight in the first …. days of life

A

7% of birth weight in the first 5 days of life –> check for regain in 10-14 days

47
Q

Aplasia cutis - syndrome

A

Parau (13)

48
Q

Mc albright syndrome - mutation at

A

GNAQ

pediatrics (16 decks)

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