Brainscape's Knowledge GenomeTM


Top Flashcards (Certified)
All Flashcards

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

Final Deck Flashcards

(143 cards)

Start Studying
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Side effects of maternal indomethacin, nifedipine

A

Indomethacin: PPHN, renal insufficiency, ileal perf, NEC

Nifedipine: uteroplacental insufficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Describe category I tracing

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Complete molar pregnancies karyotype. Who was origin? Complication?

A

46 XX
PATERNAL origin
20% trophoblastic tumors

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Amnion nodosum signifies _____

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

What is most common birth defect? prevalence?

A

congenital heart disease. 1% of all births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

How does obesity affect gastroschisis risk?

A

Less risk in obese women

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Oral glucocorticoids risk on baby

A

low BW, higher rate of preterm birth

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

PHB and topiramate teratogenic effects

A

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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Placental mosaicism can be caused by meiotic or mitotic error?

A

both

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Epidural anesthesia can extend which stage of labor?

A

second

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

What placental path increases risk for chronic lung disease?

A

subnecrotizing funisitis or chronic chorioamnionitis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
17
Q

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

A

Zone I or II; MAS causes air trapping

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
19
Q

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

A

New BPD

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
21
Q

What receptor does PDE3 act on?

A

cAMP (Milrinone blocks, Millie goes to CAMP)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
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

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
24
Q

Chromosomes for Tuberous Sclerosis

A

9 and 16

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
25
What is most common cause of complete vascular ring?
double aortic arch
26
What is most common type of VSD?
Perimembranous (70%) Muscular is 25% Both close spontaneously
27
Egg shaped heart on CXR, narrow mediastinum =
D-TGA
28
Cardiogenesis begins at week heart beats at separation at
weak 5 - paired heart tubules; tubes fuse and fold shortly thereafter heart beats at week 6 separation at weeks 7-8
29
Shunt equation
capillary - arterial / capillary - venous
30
Side effects of epi; due to which receptor?
lactic acidosis, hyperglycemia, tachycardia beta2
31
Dopamine can cause depletion of NE after how much time? What side effects?
12 hrs SE: decreased thyrotropin, prolactin, thyroxin, increased PVR
32
Which pressers decrease HR due to vagal stimulation
NE, epi
33
What does tall peaked P waves imply?
R atrial enlargement. Abnormal, and needs investigation
34
Sturge Weber associated with which eye abnormality?
Glaucoma in 30-70% of affected individuals
35
Name conditions that cause glaucoma?
Sturge Weber, NF, RB, homocystinuria, T21, congenital rubella, Stickler syndrome
36
What threshold to use amplification device or cochlear implant
cochlear implant for >85 dB Less than that use amplification device
37
SMA phenotype
absent DTR, tongue fasciculations
38
When is optic myelination complete?
24 months
39
Stickler Syndrome
Col2A; connective tissue disorder that includes ocular findings (myopia, cataract, retinal detachment), hearing loss, glaucoma, Pierre Robin
40
Most common form of brain injury in preterm
diffuse PVL
41
Most common cause of genetic hearing loss?
Connexin gene
42
Threshold for abnormal hearing test?
35 dB
43
Mobius syndrome
congenital facial diplegia syndrome; problem in CN nuclei, roots, nerves, or muscles
44
Walker-Warburg syndrome
cerebro-ocular dysplasia syndrome with ocular dysplasia, hydrocephalus, and cerebral malformations
45
SMA Type 1 facts - appearance on muscle biopsy EMG
muscle biopsy = atrophy of motor units. EMG = nonspecific denervation, fasciculations, fibrillations, but normal nerve conduction
46
tyrosinemia beta-methyl-crotonyl glycinuria mma To treat supplement with what
Vitamin C for tyrosinemia Biotin tx for beta-methyl-crotonyl glycinuria Vitamin B12 for MMA
47
congenital myotonic dystrophy
abnormal small and round muscle fibers with large nuclei and sparse myofibrils
48
Riley Day syndrome
familial dysautonomia (PNS) —> pupil constriction. + methacoline
49
Goldenhar syndrome. also similar to
Oculo-auriculo-vertebral syndrome Bronchio-oto-renal: isolated accessory tragus / pre auricular pits.
50
Meckel Gruber
encephalocele, cystic kidneys, ciliary dysplasia
51
Peters anomaly
congenital central corneal opacity with corresponding defects in posterior stroma
52
When do fetuses detect sound?
20-25 weeks
53
Cutis aplasia inheritance? Which syndromes?
T13, 4p syndrome AD
54
Collodion membrane
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
55
Rubenstein-Taybi anomalies
16p13.3 Cardiac (PDA, VSD, ASD) broad thumbs and toes Hypoplastic maxilla Hirsuitism, hypotonia, DD
56
Syndrome with stellate iris pattern
Williams syndrome - hypoplastic nails, prominent lips, hoarse voice, hypercalcemia, supravalvar aortic stenosis
57
Smith Lemli Opitz Syndrome
Elevated 7 dexoycholesterol CHD, cleft palate, GU, syndactyly of 2nd and 3rd toe
58
Narrow shoulders
Holt-Oram - AD, heart + hand Hypoplastic/abnormal thumbs, narrow shoulders, hypertelorism, ASD or VSD
59
Mosaic turner increases risk of what complication?
gonadoblastoma
60
Legius syndrome
6 or more cafe au lait no other stigmata of NF-1; AD; SPRED1 gene; mild DD
61
Bifid ribs association
Gorlin-Goltz Syndrome
62
Which TORCH increase risk of stillbirth?
Listeria, parvo, syphillis
63
Transmission / severity of CMV, syphillis, rubella, toxo
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
Neutrophils from babies compared to adults
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
Syphillis placenta path
hydrops; round cell infiltration caused by maternal immunocytes
66
Function of spleen
site of IgM and complement production Maturation of ab Supports proliferation of T-cells Scavenges damaged RBC and platelets; recycles iron from Hgb
67
Most common complication of untreated toxo?
chorioretinits
68
Describe syphillis rash
vesicular or bulbous skin lesions. Usually rupture to form superficial crusted erosions or ulcerations
69
RTA; which one has high urine pH and hypercalciuria?
Type I
70
alopecia, scaling dermatitis, and seborrhea
Biotin
71
beriberi, fatigue, irritability, constipation, heart failure
Thiamine
72
When does nephrogenesis start and complete?
9 weeks, 34-36 weeks. urine production at 10-12 weeks. 90% of amniotic fluid is fetal urine at 20 weeks
73
anemia, neutropenia, osteoporosis
Copper deficiency
74
Human milk compared to cow's milk has _____ LCPUFA
more! Also more carnitine, cholesterol, DHA. BM has lower AA than cow's milk
75
Function lf selenium and zinc?
Selenium - essential component of glutathione peroxidase Zinc - important for bones
76
What do jejunum and ileum absorb?
Jejunum - absorption of protein, fat, carb + iron, Ca, Mg Ileum: B12, hormones, bile salt absorption, fat-soluble vitamins, Zn
77
Lowe Syndrome
X-linked recessive - Golgi. GLOW syndrome --> oculocerebrorenal + GU
78
Describe early nephrogenesis
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
timing o vesicoamniotic shunt if severe oligo?
2nd trimester
80
Main gluconeogenesis AA Main ketogenic
GAG glutamate alanine glycine ketogenic - leucine and lysine
81
Where do post-NEC strictures occur?
Large intestine, L colon
82
Pathogenesis of small left colon
functional immaturity of ganglion cells
83
Ladd's procedure
cecum in LLQ, duodenum on R. Counterclockwise rotation of bowel.
84
Recurrence rate of NEC? Complication rate?
6% recurrence rate 36% can develop stricture (L colon)
85
Risk factors for gastroschisis
young maternal age, smoking + alcohol, illicit drugs, vasoactive, salicylates IUGR affects 20-60% of infants born with gastroschisis
86
Cell markers of HLH
neutropenia, low natural killer T cells Hamophagocytosis in samples of BM, spleen, or lymph node
87
When does stomach achieve adult acid levels?
3 months
88
Describe sites of hematopoiesis in fetus?
Yolk Sac - 2.5-10 weeks Liver: 6-22 weeks BM: >22 weeks
89
What coag factor is elevated in VWD?
PTT
90
Kasabach-Merrit
hemangioma skin lesions, high output heart failure, DIC, thrombocytopenia
91
Most common hemoglobin abnormality in world?
Hemoglobin E
92
What deficiency associated with Amish?
Pyruvate kinase deficiency
93
What is the underlying problem in Fanconi's anemia?
chromosomal fragility and breakage; congenital aplastic anemia, no hemolysis / reticulocytosis
94
Does chemo of transient myeloproliferative disorder prevent future leukemia?
no
95
Risk of malignancy of sacrococcygeal teratoma
15-20% Recurrence risk 10%
96
Fetal platelets compared to adult platelets
fetal platelets are smaller, lower poly, but greater #
97
Why does TAR have low platelets?
blockage of differentiation in megakaryocytic precursor
98
What is favorable prognosis for neuroblastoma
presenting <12 mo and with metastasis
99
Cooley's anemia
Frontal bossing and maxillary hypertrophy, secondary to increased erythopoeisis
100
Hemoglobin H vs Hemoglobin barts
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
When is thyroid hormone produced?
12 weeks
102
What is most common CHD for IDM?
TGA, VSD, HOCM
103
What % of neonates born to women with Graves are affected?
1%
104
Does IUGR lead to hyper or hypoglycemia?
Both! Lack of enteral feeds --> diminished incretin --> less insulin = hyperglycemia
105
Does iodine excess or deficiency lead to hypothyroidism?
both
106
What compounds inhibit TSH?
Dopamine, steroids, caffeine
107
What phenotypic changes does 5-alpha reductase cause
fusion of labioscrotal folds and formation of scrotum and penis
108
What cell layer is thyroid gland derived from? Describe thyroid genesis
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
Most common location of hypospadias?
glans or corona in 50% Sub-coronal or penile shaft in 30% scrotum or perineum in 20%
110
Phenotype of 5-alpha reductase deficiency vs AIS
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
What drives testosterone in Lydia cell
1st trimester: placental HcG week 8: LH
112
How to treat cystinuria?
D-penicillamine + methionine restriction
113
How to treat isovaleric acidemia?
Glycine
114
How to treat urea cycle d/o
limit protein, administer sodium benzoate or sodium phenylacetate
115
Niemann-Pick disease
sphingomyelinase) foam cells in BM; cherry red spots, clear corneas
116
Gaucher
glucoceribrosidase; HSM, neuro prob Gangliosidosis and Wolman dz - WBC BM inclusions presents after a week
117
Pyruvate dehydrogenase inheritance
mitochondrial absent CC Vitamin B1
118
Next test for tyrosinemia suspected
serum and urine succinylacetone
119
Transient vs real tyrisonemia of newborn
Tyrosinemia - tx with nitisinone (decrease toxic metabolites), low diet in tyrosine, PHE, methionine Transient - benign; supplemental Vit C and decraesd protein
120
Biotinidase deficiency
Immune dysfunction, alopecia, skin rash, blindness, seizures, hearing loss
121
Menke's disease
X-linked recessive; brittle, steely, kinky hair. CNS, bone problems Dx: low ceruloplasmin and copper
122
Familial glycinuria
AD; defective renal glycine reabsorption, variably accompanied by oxalate urolithiasis.
123
Hartnup Disease
AR; amino acid transport defect causing skin disease, ataxia, dystonia, and seizures.
124
Maple syrup urine disease
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
Propionic acuduria
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
Homocystinuria
*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
Arginase deficiency symptoms
progressive spastic diplegia
128
Fructosemia
Fructose 1-phosphate aldolase - fructosemia - asymptomatic until formula is introduced (Cow’s milk formula contains sucrose) sucrose is glucose + fructose
129
Galactosemia source of metabolic acidosis? dx?
renal tubular dysfunction NOT from lactate urine non-glucose reducing substances
130
Galactokinase sx
cataracts only
131
Why do glactosemia patients get cataracts
excess galactitol
132
Which PPI has least interaction with cytochrome P450
Pantoprazole
133
Absorption of glucose in GI tract is?
facilitated diffusion
134
Zero vs first order kinetics
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
How to increase statistical power?
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
How to show causal claim?
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
What is the Hawthorne effect?
improvement in outcomes just bc you are in a study
138
When are RR and OR almost the same?
when outcome is rare
139
How to measure non-parametric data?
Mann-Whitney and Wilcoxon Rank sum
140
Clearance of drug
Clearance = elimination rate constant x Vd
141
Methimazole side effects
choanal atresia, EA, hypothyroidism, cutis aplasia
142
Beta blockers side effect
FGR
143
What drugs displace bilirubin from albumin
sulfa, CTX, chloral hydrate, ibuprofen

Nicu Brodsky+Pediatrix+NeoReview Questions (14 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2025 Bold Learning Solutions. Terms and Conditions