Final Deck Flashcards
What percent of neonates born to women with MG develop TNMG? When do they recover?
10-20% develop
90% Recover by 2 mo
Side effects of maternal indomethacin, nifedipine
Indomethacin: PPHN, renal insufficiency, ileal perf, NEC
Nifedipine: uteroplacental insufficiency
Fetal alcohol syndrome
Mechanism?
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
Which increases risk of first trimester abortions? Measles or mumps?
Mumps!
Measles increases risk of prematurity but no risk of abortions/teratogens
Describe category I tracing
FHR 110-160, moderate variability, absence of variable or late decals. + early decels, +accels
Complete molar pregnancies karyotype. Who was origin? Complication?
46 XX
PATERNAL origin
20% trophoblastic tumors
Describe placenta for abnormal doppler flow and IUGR
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
Amnion nodosum signifies _____
severe and longstanding oligohydramnios. PPROM, TTTS, or severe IDM + placental vascular disease
What is most common birth defect? prevalence?
congenital heart disease. 1% of all births
How does obesity affect gastroschisis risk?
Less risk in obese women
Oral glucocorticoids risk on baby
low BW, higher rate of preterm birth
PHB and topiramate teratogenic effects
PHB - congenital heart, craniofacial, GU abnormalities
Topirimate = cleft + hypospadias
Transplacental transport. Simple diffusion, active, facilitated diffusion
Simple: O2, CO2, water, NaCl, lipids, lipid soluble
Facilitated Diffusion: glucose/carbs
Active: AA, Ca, Phos, Mg, Iron, Iodide, Water-soluble vitamins
Placental mosaicism can be caused by meiotic or mitotic error?
both
Epidural anesthesia can extend which stage of labor?
second
What placental path increases risk for chronic lung disease?
subnecrotizing funisitis or chronic chorioamnionitis
In meconium aspiration syndrome, what zone of respiration do you breathe?
Zone I or II; MAS causes air trapping
Differentiate new vs old BPD
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
New BPD vs old BPD - which has less pulmonary HTN and less airway reactivity?
New BPD
What is increased in neonates compared with adults? Decreased? Same?
Increased: RR, RV, Minute ventilation, alveolar ventilation
Decreased: TLC, TV, IC, VC
Same: Dead space, FRC
What receptor does PDE3 act on?
cAMP (Milrinone blocks, Millie goes to CAMP)
What is P50?
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
Boyle’s Law
Charles’ Law
Fick’s Law
Henry’s Law
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
Chromosomes for Tuberous Sclerosis
9 and 16
What is most common cause of complete vascular ring?
double aortic arch
What is most common type of VSD?
Perimembranous (70%)
Muscular is 25%
Both close spontaneously
Egg shaped heart on CXR, narrow mediastinum =
D-TGA
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
Shunt equation
capillary - arterial / capillary - venous
Side effects of epi; due to which receptor?
lactic acidosis, hyperglycemia, tachycardia
beta2
Dopamine can cause depletion of NE after how much time? What side effects?
12 hrs
SE: decreased thyrotropin, prolactin, thyroxin, increased PVR
Which pressers decrease HR due to vagal stimulation
NE, epi
What does tall peaked P waves imply?
R atrial enlargement. Abnormal, and needs investigation
Sturge Weber associated with which eye abnormality?
Glaucoma in 30-70% of affected individuals
Name conditions that cause glaucoma?
Sturge Weber, NF, RB, homocystinuria, T21, congenital rubella, Stickler syndrome
What threshold to use amplification device or cochlear implant
cochlear implant for >85 dB
Less than that use amplification device
SMA phenotype
absent DTR, tongue fasciculations
When is optic myelination complete?
24 months
Stickler Syndrome
Col2A; connective tissue disorder that includes ocular findings (myopia, cataract, retinal detachment), hearing loss, glaucoma, Pierre Robin
Most common form of brain injury in preterm
diffuse PVL
Most common cause of genetic hearing loss?
Connexin gene
Threshold for abnormal hearing test?
35 dB
Mobius syndrome
congenital facial diplegia syndrome; problem in CN nuclei, roots, nerves, or muscles
Walker-Warburg syndrome
cerebro-ocular dysplasia syndrome with ocular dysplasia, hydrocephalus, and cerebral malformations
SMA Type 1 facts
- appearance on muscle biopsy
EMG
muscle biopsy = atrophy of motor units. EMG = nonspecific denervation, fasciculations, fibrillations, but normal nerve conduction
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
congenital myotonic dystrophy
abnormal small and round muscle fibers with large nuclei and sparse myofibrils
Riley Day syndrome
familial dysautonomia (PNS) —> pupil constriction. + methacoline
Goldenhar syndrome. also similar to
Oculo-auriculo-vertebral syndrome
Bronchio-oto-renal: isolated accessory tragus / pre auricular pits.
Meckel Gruber
encephalocele, cystic kidneys, ciliary dysplasia
Peters anomaly
congenital central corneal opacity with corresponding defects in posterior stroma
When do fetuses detect sound?
20-25 weeks
Cutis aplasia inheritance? Which syndromes?
T13, 4p syndrome
AD
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
Rubenstein-Taybi anomalies
16p13.3
Cardiac (PDA, VSD, ASD)
broad thumbs and toes
Hypoplastic maxilla
Hirsuitism, hypotonia, DD
Syndrome with stellate iris pattern
Williams syndrome - hypoplastic nails, prominent lips, hoarse voice, hypercalcemia, supravalvar aortic stenosis
Smith Lemli Opitz Syndrome
Elevated 7 dexoycholesterol
CHD, cleft palate, GU, syndactyly of 2nd and 3rd toe
Narrow shoulders
Holt-Oram - AD, heart + hand
Hypoplastic/abnormal thumbs, narrow shoulders, hypertelorism, ASD or VSD
Mosaic turner increases risk of what complication?
gonadoblastoma
Legius syndrome
6 or more cafe au lait no other stigmata of NF-1; AD; SPRED1 gene; mild DD
Bifid ribs association
Gorlin-Goltz Syndrome
Which TORCH increase risk of stillbirth?
Listeria, parvo, syphillis
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
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
Syphillis placenta path
hydrops; round cell infiltration caused by maternal immunocytes
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
Most common complication of untreated toxo?
chorioretinits
Describe syphillis rash
vesicular or bulbous skin lesions. Usually rupture to form superficial crusted erosions or ulcerations
RTA; which one has high urine pH and hypercalciuria?
Type I
alopecia, scaling dermatitis, and seborrhea
Biotin
beriberi, fatigue, irritability, constipation, heart failure
Thiamine
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
anemia, neutropenia, osteoporosis
Copper deficiency
Human milk compared to cow’s milk has _____ LCPUFA
more! Also more carnitine, cholesterol, DHA. BM has lower AA than cow’s milk
Function lf selenium and zinc?
Selenium - essential component of glutathione peroxidase
Zinc - important for bones
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
Lowe Syndrome
X-linked recessive - Golgi. GLOW syndrome –> oculocerebrorenal + GU
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
timing o vesicoamniotic shunt if severe oligo?
2nd trimester
Main gluconeogenesis AA
Main ketogenic
GAG
glutamate
alanine
glycine
ketogenic - leucine and lysine
Where do post-NEC strictures occur?
Large intestine, L colon
Pathogenesis of small left colon
functional immaturity of ganglion cells
Ladd’s procedure
cecum in LLQ, duodenum on R. Counterclockwise rotation of bowel.
Recurrence rate of NEC? Complication rate?
6% recurrence rate
36% can develop stricture (L colon)
Risk factors for gastroschisis
young maternal age, smoking + alcohol, illicit drugs, vasoactive, salicylates
IUGR affects 20-60% of infants born with gastroschisis
Cell markers of HLH
neutropenia, low natural killer T cells
Hamophagocytosis in samples of BM, spleen, or lymph node
When does stomach achieve adult acid levels?
3 months
Describe sites of hematopoiesis in fetus?
Yolk Sac - 2.5-10 weeks
Liver: 6-22 weeks
BM: >22 weeks
What coag factor is elevated in VWD?
PTT
Kasabach-Merrit
hemangioma skin lesions, high output heart failure, DIC, thrombocytopenia
Most common hemoglobin abnormality in world?
Hemoglobin E
What deficiency associated with Amish?
Pyruvate kinase deficiency
What is the underlying problem in Fanconi’s anemia?
chromosomal fragility and breakage; congenital aplastic anemia, no hemolysis / reticulocytosis
Does chemo of transient myeloproliferative disorder prevent future leukemia?
no
Risk of malignancy of sacrococcygeal teratoma
15-20%
Recurrence risk 10%
Fetal platelets compared to adult platelets
fetal platelets are smaller, lower poly, but greater #
Why does TAR have low platelets?
blockage of differentiation in megakaryocytic precursor
What is favorable prognosis for neuroblastoma
presenting <12 mo and with metastasis
Cooley’s anemia
Frontal bossing and maxillary hypertrophy, secondary to increased erythopoeisis
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.
When is thyroid hormone produced?
12 weeks
What is most common CHD for IDM?
TGA, VSD, HOCM
What % of neonates born to women with Graves are affected?
1%
Does IUGR lead to hyper or hypoglycemia?
Both!
Lack of enteral feeds –> diminished incretin –> less insulin = hyperglycemia
Does iodine excess or deficiency lead to hypothyroidism?
both
What compounds inhibit TSH?
Dopamine, steroids, caffeine
What phenotypic changes does 5-alpha reductase cause
fusion of labioscrotal folds and formation of scrotum and penis
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.
Most common location of hypospadias?
glans or corona in 50%
Sub-coronal or penile shaft in 30%
scrotum or perineum in 20%
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
What drives testosterone in Lydia cell
1st trimester: placental HcG
week 8: LH
How to treat cystinuria?
D-penicillamine + methionine restriction
How to treat isovaleric acidemia?
Glycine
How to treat urea cycle d/o
limit protein, administer sodium benzoate or sodium phenylacetate
Niemann-Pick disease
sphingomyelinase) foam cells in BM; cherry red spots, clear corneas
Gaucher
glucoceribrosidase; HSM, neuro prob
Gangliosidosis and Wolman dz - WBC BM inclusions
presents after a week
Pyruvate dehydrogenase inheritance
mitochondrial
absent CC
Vitamin B1
Next test for tyrosinemia suspected
serum and urine succinylacetone
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
Biotinidase deficiency
Immune dysfunction, alopecia, skin rash, blindness, seizures, hearing loss
Menke’s disease
X-linked recessive; brittle, steely, kinky hair. CNS, bone problems
Dx: low ceruloplasmin and copper
Familial glycinuria
AD; defective renal glycine reabsorption, variably accompanied by oxalate urolithiasis.
Hartnup Disease
AR; amino acid transport defect causing skin disease, ataxia, dystonia, and seizures.
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.
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.
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)
Arginase deficiency symptoms
progressive spastic diplegia
Fructosemia
Fructose 1-phosphate aldolase - fructosemia - asymptomatic until formula is introduced (Cow’s milk formula contains sucrose) sucrose is glucose + fructose
Galactosemia source of metabolic acidosis? dx?
renal tubular dysfunction
NOT from lactate
urine non-glucose reducing substances
Galactokinase sx
cataracts only
Why do glactosemia patients get cataracts
excess galactitol
Which PPI has least interaction with cytochrome P450
Pantoprazole
Absorption of glucose in GI tract is?
facilitated diffusion
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
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)
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.
What is the Hawthorne effect?
improvement in outcomes just bc you are in a study
When are RR and OR almost the same?
when outcome is rare
How to measure non-parametric data?
Mann-Whitney and Wilcoxon Rank sum
Clearance of drug
Clearance = elimination rate constant x Vd
Methimazole side effects
choanal atresia, EA, hypothyroidism, cutis aplasia
Beta blockers side effect
FGR
What drugs displace bilirubin from albumin
sulfa, CTX, chloral hydrate, ibuprofen
