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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
Williams syndrome findings
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
kallman - mode of inheritance
X
27
MC type od spinocerebellar ataxias
Friedreich ataxia
28
general check up in teenagers
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
check lipid profile in teenagers?
at age 9-11 and at age 17-21 as lipid levels are relatively stable prior to and after puberty
30
transient tachypnea of the newborn - X-ray
fluid in interlobular fissures
31
HSV - neonatal conjunctivitis - treatment
- systemic acyclovir | - topical vidarabine
32
MC abd mass
Wilms
33
omphalocele is highly associated with
Edward (18)
34
emancipated minor
1. homelss 2. parent 3. married 4. military service 5. financially independent 6. high school graduate
35
midecally emancipated minor
1. emergency care 2. STD 3. substance abuse 4. pregnancy care 5. contraception
36
how many parents are required for a non-emergent medical intervention
only 1
37
nonemergency situation in which parent refuses potentially life saving treatment for the child (eg chemo in cancer) --> ...
court order mandating treatment
38
pink stains or brick dust in neonatal diapers?
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
Marfan mutation
fibrillin -1
40
Turner syndrome - fractures?
common osteoporotic fractures due to absence of estrogens
41
accidental diagnosis with urehtritis (chlam or neisseria) next step
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
Most common clinical manifestations of Ehlers-Danlos syndrome
1. Hyperextensible skin 2. Tendency to bleed (easy bruising) 3. Hypermobile joints
43
zika - congenital defects
microcephaly, hypertonia, contractures, ocular abnormalities, hearing loss
44
When babbling
6 months
45
When response to name
6 months
46
healthy infants norally lose up to ....% weight in the first .... days of life
7% of birth weight in the first 5 days of life --> check for regain in 10-14 days
47
Aplasia cutis - syndrome
Parau (13)
48
Mc albright syndrome - mutation at
GNAQ

pediatrics (16 decks)

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