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Nicu Brodsky+Pediatrix+NeoReview Questions > Final Deck > Flashcards

Final Deck Flashcards

1
Q

What percent of neonates born to women with MG develop TNMG? When do they recover?

A

10-20% develop
90% Recover by 2 mo

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2
Q

Side effects of maternal indomethacin, nifedipine

A

Indomethacin: PPHN, renal insufficiency, ileal perf, NEC

Nifedipine: uteroplacental insufficiency

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3
Q

Fetal alcohol syndrome
Mechanism?

A

long smooth philtrum, short palpebral fissures, heart (VSD, TOF + PS), CNS abnormalities. Postnatal FTT.

Mechanism - apoptotic effect via blockade of NMDA glutamate receptors and GABA activation
Reduction in fetus ability to respond to free radicals
Direct inhibition of Sonic hedgehog

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4
Q

Which increases risk of first trimester abortions? Measles or mumps?

A

Mumps!
Measles increases risk of prematurity but no risk of abortions/teratogens

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5
Q

Describe category I tracing

A

FHR 110-160, moderate variability, absence of variable or late decals. + early decels, +accels

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6
Q

Complete molar pregnancies karyotype. Who was origin? Complication?

A

46 XX
PATERNAL origin
20% trophoblastic tumors

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7
Q

Describe placenta for abnormal doppler flow and IUGR

A

Abnormal doppler = placenta with slender capillaries, with decreased capillary loops in gas-exchanging villi

IUGR = hypertrophy of villous arterioles –> increase in fetal SVR –> decrease in diastolic flow –> increased S/D ratio

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8
Q

Amnion nodosum signifies _____

A

severe and longstanding oligohydramnios. PPROM, TTTS, or severe IDM + placental vascular disease

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9
Q

What is most common birth defect? prevalence?

A

congenital heart disease. 1% of all births

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10
Q

How does obesity affect gastroschisis risk?

A

Less risk in obese women

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11
Q

Oral glucocorticoids risk on baby

A

low BW, higher rate of preterm birth

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12
Q

PHB and topiramate teratogenic effects

A

PHB - congenital heart, craniofacial, GU abnormalities
Topirimate = cleft + hypospadias

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13
Q

Transplacental transport. Simple diffusion, active, facilitated diffusion

A

Simple: O2, CO2, water, NaCl, lipids, lipid soluble
Facilitated Diffusion: glucose/carbs
Active: AA, Ca, Phos, Mg, Iron, Iodide, Water-soluble vitamins

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14
Q

Placental mosaicism can be caused by meiotic or mitotic error?

A

both

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15
Q

Epidural anesthesia can extend which stage of labor?

A

second

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16
Q

What placental path increases risk for chronic lung disease?

A

subnecrotizing funisitis or chronic chorioamnionitis

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17
Q

In meconium aspiration syndrome, what zone of respiration do you breathe?

A

Zone I or II; MAS causes air trapping

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18
Q

Differentiate new vs old BPD

A

New BPD - altered lung development; arrest of alveolarization, increased alveolar (saccular) diameters and fewer alveoli. Hyperinflation, minimal cystic emphysema

Old BPD - structural damage of normal pulmonary structures from mechanical ventilation and oxygen toxicity - airway squamous metaplasia, alveolar septal fibrosis, airway smooth muscle hypertrophy, marked inflammation

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19
Q

New BPD vs old BPD - which has less pulmonary HTN and less airway reactivity?

A

New BPD

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20
Q

What is increased in neonates compared with adults? Decreased? Same?

A

Increased: RR, RV, Minute ventilation, alveolar ventilation
Decreased: TLC, TV, IC, VC
Same: Dead space, FRC

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21
Q

What receptor does PDE3 act on?

A

cAMP (Milrinone blocks, Millie goes to CAMP)

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22
Q

What is P50?

A

Oxygen tension at which 50% of Hgb is saturated with O2 at standard temperature and pH

Fetal Hgb has higher affinity for O2 and thus lower P50

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23
Q

Boyle’s Law
Charles’ Law
Fick’s Law
Henry’s Law

A

Boyle’s law - at constant temperature, given volume varies inversely to pressure to which it is subjected

Charles’ law - gas expands as it is warmed and shrinks as it is cooled

Fick’s law: transfer of solute by diffusion is proportional to cross-sectional area available for diffusion

Henry’s law - at constant temperature, any gas physically dissolves in liquid in proportion to partial pressure

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24
Q

Chromosomes for Tuberous Sclerosis

A

9 and 16

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25
Q

What is most common cause of complete vascular ring?

A

double aortic arch

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26
Q

What is most common type of VSD?

A

Perimembranous (70%)
Muscular is 25%
Both close spontaneously

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27
Q

Egg shaped heart on CXR, narrow mediastinum =

A

D-TGA

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28
Q

Cardiogenesis begins at week
heart beats at
separation at

A

weak 5 - paired heart tubules; tubes fuse and fold shortly thereafter
heart beats at week 6
separation at weeks 7-8

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29
Q

Shunt equation

A

capillary - arterial / capillary - venous

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30
Q

Side effects of epi; due to which receptor?

A

lactic acidosis, hyperglycemia, tachycardia
beta2

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31
Q

Dopamine can cause depletion of NE after how much time? What side effects?

A

12 hrs
SE: decreased thyrotropin, prolactin, thyroxin, increased PVR

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32
Q

Which pressers decrease HR due to vagal stimulation

A

NE, epi

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33
Q

What does tall peaked P waves imply?

A

R atrial enlargement. Abnormal, and needs investigation

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34
Q

Sturge Weber associated with which eye abnormality?

A

Glaucoma in 30-70% of affected individuals

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35
Q

Name conditions that cause glaucoma?

A

Sturge Weber, NF, RB, homocystinuria, T21, congenital rubella, Stickler syndrome

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36
Q

What threshold to use amplification device or cochlear implant

A

cochlear implant for >85 dB
Less than that use amplification device

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37
Q

SMA phenotype

A

absent DTR, tongue fasciculations

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38
Q

When is optic myelination complete?

A

24 months

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39
Q

Stickler Syndrome

A

Col2A; connective tissue disorder that includes ocular findings (myopia, cataract, retinal detachment), hearing loss, glaucoma, Pierre Robin

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40
Q

Most common form of brain injury in preterm

A

diffuse PVL

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41
Q

Most common cause of genetic hearing loss?

A

Connexin gene

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42
Q

Threshold for abnormal hearing test?

A

35 dB

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43
Q

Mobius syndrome

A

congenital facial diplegia syndrome; problem in CN nuclei, roots, nerves, or muscles

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44
Q

Walker-Warburg syndrome

A

cerebro-ocular dysplasia syndrome with ocular dysplasia, hydrocephalus, and cerebral malformations

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45
Q

SMA Type 1 facts
- appearance on muscle biopsy
EMG

A

muscle biopsy = atrophy of motor units. EMG = nonspecific denervation, fasciculations, fibrillations, but normal nerve conduction

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46
Q

tyrosinemia
beta-methyl-crotonyl glycinuria
mma

To treat supplement with what

A

Vitamin C for tyrosinemia
Biotin tx for beta-methyl-crotonyl glycinuria
Vitamin B12 for MMA

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47
Q

congenital myotonic dystrophy

A

abnormal small and round muscle fibers with large nuclei and sparse myofibrils

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48
Q

Riley Day syndrome

A

familial dysautonomia (PNS) —> pupil constriction. + methacoline

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49
Q

Goldenhar syndrome. also similar to

A

Oculo-auriculo-vertebral syndrome
Bronchio-oto-renal: isolated accessory tragus / pre auricular pits.

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50
Q

Meckel Gruber

A

encephalocele, cystic kidneys, ciliary dysplasia

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51
Q

Peters anomaly

A

congenital central corneal opacity with corresponding defects in posterior stroma

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52
Q

When do fetuses detect sound?

A

20-25 weeks

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53
Q

Cutis aplasia inheritance? Which syndromes?

A

T13, 4p syndrome
AD

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54
Q

Collodion membrane

A

thickened stratum corneal - swells from amniotic fluid exposure. tightened membrane on infant causes ectropion (eversion of lower eyelids), eclabion (eversion of lips), –> sausage like swelling of digits

at risk for hypothermia, hypernatremic dehydration, infection

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55
Q

Rubenstein-Taybi anomalies

A

16p13.3
Cardiac (PDA, VSD, ASD)
broad thumbs and toes
Hypoplastic maxilla
Hirsuitism, hypotonia, DD

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56
Q

Syndrome with stellate iris pattern

A

Williams syndrome - hypoplastic nails, prominent lips, hoarse voice, hypercalcemia, supravalvar aortic stenosis

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57
Q

Smith Lemli Opitz Syndrome

A

Elevated 7 dexoycholesterol
CHD, cleft palate, GU, syndactyly of 2nd and 3rd toe

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58
Q

Narrow shoulders

A

Holt-Oram - AD, heart + hand
Hypoplastic/abnormal thumbs, narrow shoulders, hypertelorism, ASD or VSD

59
Q

Mosaic turner increases risk of what complication?

A

gonadoblastoma

60
Q

Legius syndrome

A

6 or more cafe au lait no other stigmata of NF-1; AD; SPRED1 gene; mild DD

61
Q

Bifid ribs association

A

Gorlin-Goltz Syndrome

62
Q

Which TORCH increase risk of stillbirth?

A

Listeria, parvo, syphillis

63
Q

Transmission / severity of CMV, syphillis, rubella, toxo

A

CMV - transmission can occur anytime, but more severe if earlier
Syphillis - can transmit at any time but more severe if acquired later
Rubella - transmission is U-shaped but more severe if acquired earlier
Toxo - transmission increases with gestation, but more severe if acquired earlier

64
Q

Neutrophils from babies compared to adults

A

adhere poorly to endothelium and have impaired chemotaxis. NORMAL killing.
Neutrophils from preterm are bad at phagocytosis, correct by late 3rd trimester or term
Neutrophils from term have granule contents + degranulation similar to adults
Baseline Higher proliferation rate; does not increase production as rapidly as adult
Majority of neutrophils in BM instead of plasma

65
Q

Syphillis placenta path

A

hydrops; round cell infiltration caused by maternal immunocytes

66
Q

Function of spleen

A

site of IgM and complement production
Maturation of ab
Supports proliferation of T-cells
Scavenges damaged RBC and platelets; recycles iron from Hgb

67
Q

Most common complication of untreated toxo?

A

chorioretinits

68
Q

Describe syphillis rash

A

vesicular or bulbous skin lesions. Usually rupture to form superficial crusted erosions or ulcerations

69
Q

RTA; which one has high urine pH and hypercalciuria?

A

Type I

70
Q

alopecia, scaling dermatitis, and seborrhea

A

Biotin

71
Q

beriberi, fatigue, irritability, constipation, heart failure

A

Thiamine

72
Q

When does nephrogenesis start and complete?

A

9 weeks, 34-36 weeks. urine production at 10-12 weeks. 90% of amniotic fluid is fetal urine at 20 weeks

73
Q

anemia, neutropenia, osteoporosis

A

Copper deficiency

74
Q

Human milk compared to cow’s milk has _____ LCPUFA

A

more! Also more carnitine, cholesterol, DHA. BM has lower AA than cow’s milk

75
Q

Function lf selenium and zinc?

A

Selenium - essential component of glutathione peroxidase
Zinc - important for bones

76
Q

What do jejunum and ileum absorb?

A

Jejunum - absorption of protein, fat, carb + iron, Ca, Mg
Ileum: B12, hormones, bile salt absorption, fat-soluble vitamins, Zn

77
Q

Lowe Syndrome

A

X-linked recessive - Golgi. GLOW syndrome –> oculocerebrorenal + GU

78
Q

Describe early nephrogenesis

A

Pronephros forms —> regresses by 4 weeks
Meosnephros —> mesonephric tubule and duct
MD —> ureteric bud —> collecting ducts after interacting with undifferentiated mesoderm

Renal agenesis occurs when ureteric bud fails to develop

79
Q

timing o vesicoamniotic shunt if severe oligo?

A

2nd trimester

80
Q

Main gluconeogenesis AA
Main ketogenic

A

GAG
glutamate
alanine
glycine

ketogenic - leucine and lysine

81
Q

Where do post-NEC strictures occur?

A

Large intestine, L colon

82
Q

Pathogenesis of small left colon

A

functional immaturity of ganglion cells

83
Q

Ladd’s procedure

A

cecum in LLQ, duodenum on R. Counterclockwise rotation of bowel.

84
Q

Recurrence rate of NEC? Complication rate?

A

6% recurrence rate
36% can develop stricture (L colon)

85
Q

Risk factors for gastroschisis

A

young maternal age, smoking + alcohol, illicit drugs, vasoactive, salicylates

IUGR affects 20-60% of infants born with gastroschisis

86
Q

Cell markers of HLH

A

neutropenia, low natural killer T cells
Hamophagocytosis in samples of BM, spleen, or lymph node

87
Q

When does stomach achieve adult acid levels?

A

3 months

88
Q

Describe sites of hematopoiesis in fetus?

A

Yolk Sac - 2.5-10 weeks
Liver: 6-22 weeks
BM: >22 weeks

89
Q

What coag factor is elevated in VWD?

A

PTT

90
Q

Kasabach-Merrit

A

hemangioma skin lesions, high output heart failure, DIC, thrombocytopenia

91
Q

Most common hemoglobin abnormality in world?

A

Hemoglobin E

92
Q

What deficiency associated with Amish?

A

Pyruvate kinase deficiency

93
Q

What is the underlying problem in Fanconi’s anemia?

A

chromosomal fragility and breakage; congenital aplastic anemia, no hemolysis / reticulocytosis

94
Q

Does chemo of transient myeloproliferative disorder prevent future leukemia?

A

no

95
Q

Risk of malignancy of sacrococcygeal teratoma

A

15-20%
Recurrence risk 10%

96
Q

Fetal platelets compared to adult platelets

A

fetal platelets are smaller, lower poly, but greater #

97
Q

Why does TAR have low platelets?

A

blockage of differentiation in megakaryocytic precursor

98
Q

What is favorable prognosis for neuroblastoma

A

presenting <12 mo and with metastasis

99
Q

Cooley’s anemia

A

Frontal bossing and maxillary hypertrophy, secondary to increased erythopoeisis

100
Q

Hemoglobin H vs Hemoglobin barts

A

Hemoglobin H (β4) occurs when there are mutations in 3 genes, Hemoglobin H can result in a chronic hemolytic anemia, raised total and direct bilirubin levels, cholelithiasis, hepatosplenomegaly, and skeletal abnormalities.
Hemoglobin Barts (γ 4) when all 4 genes are mutated or silent. Hemoglobin Barts classically leads to fetal hydrops and neonatal death. Intrauterine transfusions have been attempted to treat fetuses with hemoglobin Barts with some success.

101
Q

When is thyroid hormone produced?

A

12 weeks

102
Q

What is most common CHD for IDM?

A

TGA, VSD, HOCM

103
Q

What % of neonates born to women with Graves are affected?

A

1%

104
Q

Does IUGR lead to hyper or hypoglycemia?

A

Both!
Lack of enteral feeds –> diminished incretin –> less insulin = hyperglycemia

105
Q

Does iodine excess or deficiency lead to hypothyroidism?

A

both

106
Q

What compounds inhibit TSH?

A

Dopamine, steroids, caffeine

107
Q

What phenotypic changes does 5-alpha reductase cause

A

fusion of labioscrotal folds and formation of scrotum and penis

108
Q

What cell layer is thyroid gland derived from? Describe thyroid genesis

A

Endoderm
Thyroid follicles form and produce thyroglobulin at 8 weeks’ gestation. Fetal thyroid hormone can accumulate at 10 weeks’ gestation. Thyroid stimulating hormone production by the pituitary gland begins at 12 weeks’ gestation, as does thyroid hormone secretion.

109
Q

Most common location of hypospadias?

A

glans or corona in 50%
Sub-coronal or penile shaft in 30%
scrotum or perineum in 20%

110
Q

Phenotype of 5-alpha reductase deficiency vs AIS

A

5-alpha reductase - males with ambiguous genitalia, appropriate Wolffian structures, small phallus, perineal hypospadias, blind vaginal pouch
AIS - complete absence of any masculinazation of external genitalia. Female-appearing external genitalia with distal vaginal pouch. Testes normal size, may be in inguinal canal or labia

111
Q

What drives testosterone in Lydia cell

A

1st trimester: placental HcG
week 8: LH

112
Q

How to treat cystinuria?

A

D-penicillamine + methionine restriction

113
Q

How to treat isovaleric acidemia?

A

Glycine

114
Q

How to treat urea cycle d/o

A

limit protein, administer sodium benzoate or sodium phenylacetate

115
Q

Niemann-Pick disease

A

sphingomyelinase) foam cells in BM; cherry red spots, clear corneas

116
Q

Gaucher

A

glucoceribrosidase; HSM, neuro prob
Gangliosidosis and Wolman dz - WBC BM inclusions

presents after a week

117
Q

Pyruvate dehydrogenase inheritance

A

mitochondrial
absent CC
Vitamin B1

118
Q

Next test for tyrosinemia suspected

A

serum and urine succinylacetone

119
Q

Transient vs real tyrisonemia of newborn

A

Tyrosinemia - tx with nitisinone (decrease toxic metabolites), low diet in tyrosine, PHE, methionine
Transient - benign; supplemental Vit C and decraesd protein

120
Q

Biotinidase deficiency

A

Immune dysfunction, alopecia, skin rash, blindness, seizures, hearing loss

121
Q

Menke’s disease

A

X-linked recessive; brittle, steely, kinky hair. CNS, bone problems
Dx: low ceruloplasmin and copper

122
Q

Familial glycinuria

A

AD; defective renal glycine reabsorption, variably accompanied by oxalate urolithiasis.

123
Q

Hartnup Disease

A

AR; amino acid transport defect causing skin disease, ataxia, dystonia, and seizures.

124
Q

Maple syrup urine disease

A

AR; metabolism of branched-chain amino acids (leucine, isoleucine, and valine). It presents at birth with neurological abnormalities, though the hallmark is an odor of maple syrup in the urine. It is treated by restricting intake of branched-chain amino acids.

125
Q

Propionic acuduria

A

ketotic hyperglycinemia, is an autosomal recessive disease caused by propionyl-CoA carboxylase deficiency. It has a similar clinical presentation as non-ketotic hyperglycinemia, however ketones are present in the urine and blood.

126
Q

Homocystinuria

A

Ophthalmologic abnormalities: downward dislocated lenses, glaucoma, myopia
Bony abnormalities: osteoporosis, scoliosis, increased tendency to fracture bones, tall stature,
arachnodactyly, decreased joint mobility
*Neurological abnormalities: developmental delay, cognitive impairment, seizures *Hematological issues: increased thrombosis and bleeding risk

Vitamin B6 (homo-6-tinuria)

127
Q

Arginase deficiency symptoms

A

progressive spastic diplegia

128
Q

Fructosemia

A

Fructose 1-phosphate aldolase - fructosemia - asymptomatic until formula is introduced (Cow’s milk formula contains sucrose) sucrose is glucose + fructose

129
Q

Galactosemia source of metabolic acidosis? dx?

A

renal tubular dysfunction
NOT from lactate

urine non-glucose reducing substances

130
Q

Galactokinase sx

A

cataracts only

131
Q

Why do glactosemia patients get cataracts

A

excess galactitol

132
Q

Which PPI has least interaction with cytochrome P450

A

Pantoprazole

133
Q

Absorption of glucose in GI tract is?

A

facilitated diffusion

134
Q

Zero vs first order kinetics

A

Zero-order: constant amount of drug over time, regardless of concentration.
Half-life is dependent on drug dosage. Fraction eliminated is NOT constant.

1st order - % of drug unit / time, rate of drug elimination is proportional to serum drug concentration. Exponential decrease of drug over time, half-life is INDEPENDENT of drug dosage

135
Q

How to increase statistical power?

A

Increase sample size
Outcome with large effect size (more likely to see difference if effect of intervention is large)
Increase type I error rate
Decrease SD of outcome
(increasing heterogenetity increases SD)

136
Q

How to show causal claim?

A

1.The exposure (e.g., X) and outcome (e.g., Y) must be shown to be
associated;
2.The exposure (Y) must occur before the effect (X), and 3.No other plausible explanation exists.

137
Q

What is the Hawthorne effect?

A

improvement in outcomes just bc you are in a study

138
Q

When are RR and OR almost the same?

A

when outcome is rare

139
Q

How to measure non-parametric data?

A

Mann-Whitney and Wilcoxon Rank sum

140
Q

Clearance of drug

A

Clearance = elimination rate constant x Vd

141
Q

Methimazole side effects

A

choanal atresia, EA, hypothyroidism, cutis aplasia

142
Q

Beta blockers side effect

A

FGR

143
Q

What drugs displace bilirubin from albumin

A

sulfa, CTX, chloral hydrate, ibuprofen

Nicu Brodsky+Pediatrix+NeoReview Questions (14 decks)

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