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Manisha Neonatology Board Review > Manisha Neonatology Board Review > Flashcards

Manisha Neonatology Board Review Flashcards

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1
Q

Trisomy 8

A
  • camptodactyly (flexion deformity PIP joint, usually pinky)
  • thick lips
  • deep set eyes
  • prominent cupped ears
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2
Q

Trisomy 13

A
  • 80% complete trisomy
  • midline abnormality (cleft lip/palate)
  • cutis aplasia
  • narrow hyperconvex nails
  • holoprosencephaly
  • post-axial polydactyly
  • hematologic (high neutrophil with “nuclear projections”, persistent fetal hgb)
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3
Q

Trisomy 18

A
  • > 95% complete trisomy (extra maternal chromosome)
  • F > M, 3:1
  • VSD/cardiac
  • overlapping finger + clenched hands
  • rocker bottom feet
  • short sternum
  • horseshoe kidney
  • hypoplastic nails/abnormal nails
  • triple screen ALL low (hcg, estriol, AFP)
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4
Q

Trisomy 21

A
  • 1/800 live births
  • extra chromosome usually maternal
  • 3-5% Robertsonian
  • AVCD/cardiac
  • hypothyroidism
  • sandal to egap
  • clinodactyly
    -UPslanting palpebral fissures
  • Brushfield spots (speckled iris)
  • transient myeloproliferative d/o –> leukemia risk
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5
Q

Cri-du-Chat

A
  • 5p deletion (usually paternal)
  • cardiac (VSD)
  • hypertelorism
  • DOWNslanting palpebral fissure
  • intellectual disability
  • cat-like cry
  • FTT
  • dx = karyotype or FISH
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6
Q

13q deletion syndrome

A
  • thumb hypoplasia
  • colobomas + risk retinoblastoma
  • high nasal bridge
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7
Q

Wolf Hirschhorn Syndrome

A
  • 4p deletion (usually paternal)
  • length of deletion determines phenotype
  • Greek helmet facies (high forehead, broad beaked nose)
  • hypertelorism
  • low set ears with preauricular pits
  • seizures
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8
Q

Angelman Syndrome

A
  • deletion 15q 11-13 MATERNAL origin
  • <5% from UPD
  • 20-30% point mutation
  • inappropriate laughter
  • happy puppet jerky movements
  • wide space teeth + large mouth
  • majority are BLOND haired
  • decreased iris pigment
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9
Q

Velocardiofacial Syndrome

A
  • 22q11.2 microdeletion
  • DiGeorge Syndrome
  • Cardiac (aortic arch abnl)
  • Abnormal facies (bulbous nose)
  • Thymic hypoplasia
  • Cleft palate
  • Hypocalemia (hypoplastic parathyroid)
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10
Q

Prader Willi Syndrome

A
  • deletion 15q11-13 PATERNAL origin
  • 75% deletion, 20% UPD, 5% mutation/translocation
  • small hands/feet
  • almond shaped and light colored eyes/light hair
  • hypogonadism, cryptorchidism
  • FTT –> obesity
  • Dx: methylation, FISH
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11
Q

Rubenstein Taybi Syndrome

A
  • 16p13.3 deletion (CREB protein)
  • broad thumbs & 1st toe
  • beaked nose
  • DOWNslanting palebral fissures
  • small maxilla/narrow palate
  • eye abnl (glaucoma, strabismus, ptosis)
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12
Q

WAGR Syndrome

A
  • 11p13 deletion (usually de novo)
  • Wilms tumor
  • Aniridia
  • GU or renal abnormality
  • Retardation
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13
Q

Achondroplasia

A
  • AD (90% new mutation)
  • increased risk advanced PATERNAL age
  • FGFR3 mutation
  • trident hand
  • relative macrocephaly
  • champagne cup pelvis
  • NORMAL intelligence
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13
Q

Williams Syndrome

A
  • 7q11.23 deletion –> deletion of elastin gene
  • sporadic
  • supravalvar AS
  • prominent lips
  • hypoplastic nails
  • hoarse voice
  • stellate iris
  • enamel hypoplasia
  • HYPERcalcemia
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13
Q

Apert Syndrome

A
  • acrocephalosyndactyly syndrome group
  • AD, sporadic
  • increased risk advanced PATERNAL age
  • FGFR2 mutation
  • syndactyly, stocking/glove deformity
  • asymmetric craniosynostosis
  • VSD/PS/overriding Ao, cardiac
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14
Q

Crouzon Syndrome

A
  • craniofacial dysostosis
  • AD, variable expression
  • FGFR2 mutation
  • small maxilla
  • beak nose
  • coronal, lambdoid, saggital craniosynostosis
  • NO syndactyly
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15
Q

Beckwith Weidemann

A
  • AD, variable expression, sporadic
  • 50% hypomethylation, 15% paternal UPD, 10% mutation CKN1C
  • macroglossia
  • linear earlobe fissure
  • visceromegaly
  • omphalocele
  • fetal adrenocortial cytomegaly
  • Wilms tumor/hepatoblastoma risk (q3mo US until 7yo)
  • hypoglycemia
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16
Q

Holt Oram Syndrome

A
  • AD, variable expression
  • some due to 12q2 locus
  • ASD/cardiac
  • upper limb defect
  • THREE JOINTED THUMB
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17
Q

Noonan Syndrome

A
  • AD, PTPN11 deletion on 12q22
  • pectus excavatum
  • webbed neck
  • PS
  • cryptorchidism
  • coagulation defect
  • non-immune hydrops
  • DDx: 45X/XY mosaic, fetal hydantoin, fetal alcohol
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18
Q

Osteogenesis Imperfecta

A
  • AD
  • type 1 collagen defect
  • lethal form Type 2
  • increased risk fractures
  • normal to grey sclera Type 4
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19
Q

Stickler Syndrome

A
  • AD, variable expression
  • 12q13.11-q13.2 mutation
  • hereditary arthro-ophthalmopathy
  • flat facies
  • myopia
  • spondyloepiphyseal dysplasia (flat epiphyses, flat vertebrae)
  • can be a/w Pierre Robin
  • risk of retinal detachment
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20
Q

Thanatophoric Dysplasia

A
  • AD, always new mutation
  • FGFR3 (4p16.3)
  • type 1 most common
  • cloverleaf skull
  • large cranium
  • flat vertebrae
  • narrow thorax - respiratory insufficiency
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21
Q

Treacher Collins Syndrome

A
  • AD, variable expression, 60% new mutation
  • mandibulofacial dysostosis
  • TCOF1 gene, chromosome 5
  • lower eyelid coloboma
  • small madible/face
  • conductive hearing loss
  • visison loss (2/2 ambylopia)
  • NORMAL intelligence
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22
Q

Waardenburg Syndrome

A
  • AD (type 4 can also be AR)
  • PAX3 gene
  • partial albinism
  • sensorineural deafness
  • different eye colors
  • limb defects
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23
Marfan Syndrome
- AD, variable expression - fibrillin gene, 15q21.1 - aortic root dilation/aneurysm - arachnodactyly - hyperextensibility - lens subluxation (upward) - severe neonatal form = cardiac, contractures, dolichocephaly, chest deformity, high arched palate
24
Carpenter Syndrome
- AR - cardiac - polydactyly & feet syndactyly - laterally displaced inner canthus - brachycephaly or pointed head appearance
25
Ellis van Creveld
- AR - chondroectodermal dysplasia - common/single atrium - short distal extremities - polydactyly - nail hypoplasia - gingival frenulae - narrow thorax
26
Fanconi pancytopenia Syndrome
- AR - increased chromosomal breaks lymphocytes - hyperpigmentation - small radius & thumb - triphalangeal thymb - pancytopenia (~7yo but can be earlier) - Dx: chromosomal breakage study
27
Meckel Gruber Syndrome
- AR - 17q21-q24 - occipital encephalocele - microphthalmia - ear anomalies - micrognathia - cystic dysplastic kidneys - pulmonary hypoplasia
28
Smith Lemli Opitz Syndrome
- AR - defect in cholesterol synthesis - 2/3 toe syndactyly - anteverted nostrils - hypogenitalia - elevated 7-deoxycholesterol
29
TAR Syndrome
- AR - thrombocytopenia - absent radius bilateral - ulnar abnormalities (100%) - cardiac (ToF, ASD)
30
Fryns Syndrome
- AR - CDH + neurologic malformation (dandy walker, ACC, etc)
31
Fragile X Syndrome
- most common INHERITED cause intellectual disability - XD, 80% penetrance for males - >60 CGG repeats + anticipation - long facies, prominent forehead - post-pubertal macro-orchidism - autism - hyperextensible joints/connective tissue dz
32
Menke's Kinky Hair
- XR (Xq13) - kinky hair syndrome - low SERUM copper (high tissue copper) - low serum ceruloplasmin (same as Wilsons) - progressive cerebral deterioration + sz - copper unable to act as cofactor for multiple enzymes
33
Klinefelter's Syndrome
- 47 XXY - increased risk AMA - long arms/legs - hypogonadism + infertility - socially awkward - normal IQ - gynecomastia - euchanoid habitus
34
Turner's Syndrome
- 45 X - 30-40% mosaic (usually 45X/46XX) - 10-20% deletion of X (usually paternal) - bicuspid AoV (2nd CoA) - cystic hygroma - short stature - 4th metacarpal hypoplasia
35
CHARGE Syndrome
- CHD7 mutation (chromosome 8q12) --> altered chromatin - AD, majority de novo - Coloboma - Heart disease - Atresia choanae - Retarded growth - Genital hypoplasia - Ear anomalies
35
Cat Eye Syndrome
- duplication chromosome 22q11 ("opposite" DiGeorge) - TAPVR - anal atresia - coloboma iris
36
Triploidy
- complete set extra chromosomes (2%) - 3/4 finger syndactyly - large placenta w/ hydatiform changes - IUGR - brain abnormalities
37
Cornelia de Lange
- cohesin gene mutation - NIPBL (5p13) - SMC1L1 (Xp11.22) - SMC3 (10q25) - synophrys - down turned thin upper lip - micromelia - VSD
38
Mobius Sequence
- majority sporadic - 6th & 7th nerve palsy (bilateral) - destruction central brain nuclei --> PN --> myopathy - a/w limb reduction defects (Poland, Klippel Feil) - expressionless facies
39
Pierre Robin Sequence
- mandibular hypoplasia before 9 weeks - micrognathia --> glossoptosis - cleft palate
40
Goldenhaar Syndrome
- 1st + 2nd branchial arch anomalies - a/w maternal DM - absent ears - growths around eyes - malar, maxillary & mandibular hypoplasia
41
Klippel- Feil Sequence
- abnormal cervical vertebrae - short neck - low posterior hairline - limited head movement - Sprengel deformity (small high scapula)
42
Klippel Trenaunay Weber Syndrome
- sporadic - asymmetric limb hypertrophy - vascular lesions
43
Poland Sequence
- sporadic - M>F, 3:1 - 75% right sided - subclavian artery disruption --> limb & pectoral underdevelopment
44
Silver Russell Syndrome
- chromosome 7 maternal UPD or chromosome 11 - sporadic 60% - small triangular facies - asymmetry of skeleton - 5th finger clinodactyly - CALMs
45
VACTERL
- sporadic - a/w IDM - Vertebral - Anorectal malformation - Cardiac - TEF - Renal - Limb
46
Syndromes with: coloboma
Goldenhar (upper eyelid) CHARGE (retinal) Teacher Collins (lower eyelid) Cat eye (iris) Trisomy 13 Trisomy 8 13q deletion
47
Epinephrine mechanism of action
- non-selective alpha (1 & 2) + beta (1 & 2) agonist
48
Dopamine mechanism of action
- dopamine, alpha & beta receptors - can deplete norepi stores with prolonged use - decreased thyrotropin, prolactin & thyroxine - can increase PVR
49
fetal energy requirement/expenditure
35-55 kcal/kg/day
50
Placental transport: simple diffusion
- water - Na, Cl - O2, CO2 - lipids - lipid soluble vitamins - most medications
51
Placental transport: facilitated diffusion
- glucose - cephalexin
52
Placental transport: active transport
- amino acids - Mg, Phos, Ca - iron, iodide - water soluble vitamins
53
Placental Transport: Bulk Flow
- water - dissolved electrolytes
54
Placental Transport: pinocytosis
- most proteins, immunoglobulins
55
Essential amino acids
- valine, leucine, isoleucine (BCAA) - histidine - lysine - methionine - phenylalanine - threonine - tryptophan
55
Conditionally essential amino acids
arginine cysteine glutamine glycine proline tyrosine taurine
56
Glucose precursor amino acids
glutamate aspartate alanine
57
Most prevalent fatty acids found in human milk
oleic, followed by palmitic
58
length of SCFA
less than 6 carbon length
59
length of MCFA
6-12 carbon length
60
length of LCFA
>12 to 20 carbon length
61
length of VLCFA
>/= 22 carbon length
61
symptoms of essential FA deficiency
dermatitis thrombocytopenia susceptibility to infection alopecia FTT
62
glucose to protein ratio for positive nitrogen balance
6g glucose: 1g protein
63
maternal medications that decrease neonatal vitamin K levels
anticonvulsants warfarin anti-TB meds
63
symptoms of Vitamin A deficiency
?chronic lung disease (pulm epithelium & cell differentiation) photophobia + conjunctivitis abnormal bones & teeth generalized scaling FTT
64
symptoms of Vitamin B1 (thiamine) deficiency
BeriBeri (fatigue, irritable, constipation, CHF) a/w pyruvate dehydrogenase def & MSUD
65
Symptoms of riboflavin (B2) deficiency
FTT blurred vision/photophobia dermatitis mucositis a/w glutaric aciduria type 1
66
Symptoms of pyridoxine (B6) deficiency
dermatitis/mucositis seizures hypochromic anemia a/w homocystinurina
67
Symptoms of biotin deficiency
alopecia dermatitis (scaling, seborrhea) a/w biotinidase deficiency, B-methylcrotonyl glycinurina, propionic acidemia, PDH def
68
Symptoms of vitamin C deficiency
poor wound healing bleeding gums a/w transient tyrosinemia
69
Symptoms of vitamin D deficiency
rickets FTT possible tetany
70
function of chromium
regulates glucose levels (insulin metabolism)
71
function of copper
RBC production/hgb formation iron absorption multiple enzyme function
72
function of manganese
enzyme activation (superoxide dysmutase) bone construction CHO metabolism
73
function of iron
hgb/myoglobin synthesis absorbed in duodenum/proximal jejunum enhanced absorption w/ vitamin C
74
function of Zinc
enzyme function (CA, carboxypeptidase) growth
75
Symptoms of copper deficiency
anemia, neutropenia osteoporosis depigmentation hair/skin FTT hypotonia ataxia
76
Symptoms of zinc deficiency
- acrodermatitis enteropathica (AR form) - FTT, alopecia, diarrhea, periorificial derm -nail hypoplasia - staph aureus or Candida infection -alk phos is a Zinc dependent enzyme
77
trace element adjustments for PN cholestasis
reduce manganese & copper increase zinc
78
trace element adjustments for renal insufficiency
reduce chromium & selenium
79
whey: casein ratio PTF
60:40
80
nitrogen balance formula
nitrogen intake = 0.16 x g/day protein nitrogen loss = urinary urea + estimated stool loss (~4g)
81
whey: casein ratio colostrum
80:20
82
Disorders associated with nephrocalcinosis
- Bartter's Syndrome - Williams Syndrome - Type 1 RTA - primary hyperparathyroidism
83
whey: casein ratio mature breastmilk
55:45
84
Glycogen Storage Disease Type 1
Von Gierke's glucose-6-phosphatase deficiency affects mostly LIVER lactic acidosis hepatic tumors hematomas in childhood
85
Glycogen Storage Disease Type 3
Forbes' debranching enzyme deficiency affects mostly LIVER and MUSCLE muscle fatigue no neonatal symptoms good prognosis
86
Glycogen Storage Disease Type 4
Andersen's branching enzyme deficiency affects mostly LIVER and NERVES muscle weakness cirrhosis in infancy no neonatal symptoms poor prognosis - liver failure
87
Glycogen Storage Disease Type 2
Pompe's lysosomal α glucosidase deficiency affects mostly MUSCLE heart failure poor prognosis
88
Glycogen Storage Disease Type 5
McArdle's Muscle phosphorylase deficiency affects mostly MUSCLE muscle fatigue in adolescence good prognosis
89
Glycogen Storage Disease Type 6
Hers' Liver phosphorylase deficiency affects mostly LIVER no neonatal symptoms hypoglycemia is mild good prognosis
90
Glycogen Storage Disease Type 7
Tarui's muscle phosphofructokinase deficiency affects mostly MUSCLE similar to type 5 muscle fatigue adolescence good prognosis
91
only glycogen storage disease with lactic acidosis
type 1 von Gierke's
92
Glycogen Storage Disease Type 8
phosphorylase kinase deficiency affects mostly LIVER similar to type 3 without myopathy no neonatal symptoms good prognosis
93
Pyruvate dehydrogenase deficiency inheritance pattern
mitochondrial
94
glycogen storage diseases that present in neonatal period
type 1 (von Gierke's) & type 2 (Pompe)
95
key difference between Tay Sachs and NPD
NO hepatosplenomegaly in Tay Sachs (both have cherry red spot & neurological symptoms)
96
alpha-1 receptor locations and functions
artery & vein smooth muscle cardiac myocytes Functions: smooth muscle contraction (vasoconstrict) increase contractility gluconeogenesis decreased insulin release
97
differentiating between transient tyrosinemia of the newborn and tyrosinemia
tyrosinemia will have elevated urine and serum succinylacetone and +urine reducing substances
97
β1 receptor locations and functions
SA node atrial and ventricular muscle conduction cells (purkinje, SA, AV nodes) Functions: increased HR increased conduction velocity increased contractility renin secretion
98
alpha-2 receptor locations and functions
CNS sympathetic nerves Functions: block NE release inhibit sympathetic output vascular smooth muscle relaxation
99
β2 receptor locations & functions
artery & vein smooth muscle bronchial smooth muscle Functions: smooth muscle relaxation (vasodilate) bronchial relaxation increase HR and contractility glycogenolysis insulin secretion decreased intestinal motility
100
Cardiac lesion in Ellis van Creveld Syndrome
common atrium
101
Cardiac lesion in Klinefelter Syndrome
ToF, MV prolapse
102
Cardiac lesions associated with DiGeorge Syndrome
aortic arch abnormalities, truncus
103
Cyanotic heart lesions WITHOUT a murmur
HLHS TAPVR TGA with VSD
104
Cardiac lesion in gestational diabetes
HCM d-TGA
105
Rhizomelic Chrondrodysplasia
Zellweger Spectrum PEX7 gene AR presents like skeletal dysplasia bony stippling associated with NORMAL vlcfa levels (different than other peroxisomal d/o's)
106
PHACE syndrome
Posterior fossa lesions Hemangiomas Arterial (cerebrovascular) anomalies Cardiac lesions Eye abnormalities
107
Alveolar minute ventilation
= (Vt - Vdead space) x RR
107
Altitude effect on PaO2
= (Patm1 - pH2O) x FiO2 = (Patm2-pH2O) x FiO2 Patm = 760mmHg at sea level pH2O = 47mm Hg
108
Alveolar-arterial oxygen gradient
= pAO2 - paO2 = FiO2(Patm - pH2O) - (paCO2/R) - paO2 R usually = 0.8 FiO2 decimal form
109
Alveolar gas equation
= FiO2 (Patm - pH2O) - (paCO2/R)
110
Cardiac Output
= heart rate x stroke volume = systemic BP/ total peripheral vascular resistance
111
Cerebral blood flow
= cerebral perfusion pressure/cerebral vascular resistance
111
Cerebral perfusion pressure
= mean arterial pressure - intracranial pressure
112
Compliance
= change in volume (mL) / change in pressure (cm H2O)
113
Anion gap
= Na+ - (Cl- + HCO3-)
114
Elastance
= change in pressure (cm H2O) / change in volume (mL)
115
Dead space, physiologic (Bohr equation)
= [(arterial CO2 - expired CO2) / arterial CO2] x Vt Physiologic dead space is also = anatomic dead space + alveolar dead space
116
GFR
= 0.45 x height (cm)/ plasma Cr use 0.33 constant for preterm infants
116
FENA %
= urine Na x plasma Cr / urine Cr x plasma Na <1% normal 1-2.5% pre-renal >3% intrinsic renal
117
Hardy Weinberg equilibrium
p + q = 1 p2 + 2pq + q2 = 1 p = frequency dominant allele q = frequency recessive allele
117
Henderson-Hasselbach Equation
H+ = (24 x pCO2)/HCO3-
118
Mean airway pressure formula
= K(Pip - Peep) x [(iT/(iT + eT)] + Peep
119
distending pressure (LaPlace's Law)
2T/r T = surface tension R = radius
119
Minute ventilation
Vt x RR
120
Oxygen consuption (Fick principle)
= CO x (aterial O2 content - venous O2 content) = CO x (1.34 x Hgb) x (SpO2 aterial - SpO2 venous) O2 sat decimal form
121
Oxygen delivery
= CO x O2 content
122
Oxygenation Index
= [(MAP x FiO2)/ postductal PaO2] x100
123
O2 content of blood
= (1.34 x Hgb x SpO2) + (0.003 x PaO2)
123
Plasma osmolality
2Na + glu/18 + BUN/2.8
124
Poiseuille's Law (laminar flow)
= (pi x r4 x change in pressure) / 8 x length x viscosity
125
Ponderal Index
(weight(g) / CRL3) x 100
126
Qp/Qs
= (Spo2 Ao - SpO2 mixed venous) / SpO2 LA or PV - SpO2 PA)
127
Pulmonary vascular resistance
= (mean pulm art pressure - mean left atrial pressure) / pulmonary blood flow
128
Renal clearance
= (U x V) / P U = urinary solute concentration (mg/dL) V = urinary volume over time collected (mL/min) P = plasma solute concentration (mg/dL)
129
Resistance
= change in pressure/ change in flow
130
Saturation level for cyanosis
= hgbO2 / (reduced hgb + hgbO2)
131
Intrapulmonary Shunt Equation
= (O2 content pulm cap - O2 content syst art) / (O2 content pulm cap - O2 content mixed venous)
132
Systemic vascular resistance
= (mean Ao pressure - mean RA pressure) / systemic blood flow
133
Na deficit
= (Na+ desired - Na+ current) x 0.6 x wt(kg) 0.6 = volume of distribution
134
Time constant
= resistance (cm H20/mL/s) x compliance (ml/cm H20)
135
Drug clearance
= elimination rate constant (Kel) x volume of distribution (Vd) = (dose/interval) / average steady-state concentration
136
Elimination half life
= (0.693 x Vd) / clearance of drug
137
Elimination rate constant
= clearance of drug/Vd
138
Loading dose
(volume in distribution (L/kg) x Cp) / (S x F) S = active drug fraction F = bioavailable drug fraction Cp = plasma concentration S and F = 1 unless otherwise stated
139
Steady state concentration
= infusion rate/ clearance
140
Volume of Distribution
= total amount of drug in body / (plasma concentration of drug x weight) conc = mg/L drug = mg weight = kg OR: Dose/serum concentration Dose = mg/kg Concentration = mg/L
141
Attributable Risk (aka "Risk Difference"
= [a / (a + b)] - [c / (c+d)]
142
Attributable risk %
= AR / [a/(a+b)] x 100
143
False-negative
= 1 - sensitivity
144
False-positive
= 1- specificity
145
Incidence, cumulative
= # new cases in a given time period / total population at risk
146
Incidence, rate
= # new cases in a given time period/ person-time years of observation
147
Likelihood ratio (LR)
LR + = sensitivity/(1-specificity) LR - = (1-sensitivity)/specificity
148
Mean
= sum of observations/#observations
149
Mortality rate, b.w. specific
= [deaths in specific b.w. category / # births in specific b.w. category] x 1000
150
Mortality rate, fetal
= [fetal deaths / (live births + fetal deaths)] x 1000
151
Mortality rate, infant
= (infant deaths (
152
Mortality rate, neonatal
= [neonatal deaths <28d / live births] x 1000
153
Mortality rate, perinatal
= [(fetal deaths greater than or equal to 28wks + neonatal deaths <7d) / (live births + fetal deaths greater than or equal to 28 wks gestation)] x 1000
154
Mortality rate, postneonatal
= [postneonatal deaths (28d to 364d) / live births] x 1000
155
Negative predictive value (NPV)
= d/ (c+d) = TN / ( FN + TN)
156
Number Needed to Treat (NNT)
1 / (A-B) A= events in control/nonexposed B = events in treated/exposed
157
Odds ratio (aka "cross product ratio)
(a x d) / (b x c)
158
Positive Predictive Value (PPV)
= a / (a+B) = TP / (TP + FP)
159
Power
= 1 - type 2 error
160
Prevalence
= [# cases at point in time / total population at risk] x 100% = (TP + FN) / (TP + FN + FP + TN)
161
Relative Risk (or "risk ratio")
= [a / (a + b)] / [c / (c+d)] = AR in exposed/AR in nonexposed
162
Sensitivity
= a / (a+c) = TP / (TP+FN)
163
Specificity
= d / (d+b) = TN / (FP + TN)
164
Standard Deviation
= square root of the variance
165
Standard error of the mean
= SD/ square root of n
166
most common genetic mutation in long QT syndrome
KCNQ1 affects potassium channel encoded by this gene
167
functional vs. fractional O2 saturation
functional measures oxygenated Hgb and reduced Hgb only fractional measures above + carboxy and met Hgb
168
typical course of HCM associated with DM in pregnancy
regression or resolution by 3-4 weeks old, regardless of therapy *usually have DIASTOLIC dysfunction if HCM is symptomatic *avoid ionotropes! can use beta-blockers and pulmonary vasodilators as needed
169
most common cause of HCM in children younger than 4yrs
Noonan's Syndrome *Medical therapy does NOT affect prognosis, just used for symptoms (usually propranolol)
170
genes associated with HLHS
NOTCH1 NKX2-5 GJA1 HAND1
171
recurrence risk HLHS sibling
8% for HLHS 22% for any CHD
172
age at which optic nerve myelination is complete
2 years
173
age at which vertical conjugate gaze develops
2 months
174
age at which visual following is well developed
3 months
175
gestational age at which eyes close in response to light
30 weeks
176
gestational age at which pupillary light reflex appears
32 weeks (may be observed at 30 weeks, fully developed by 1mo of age)
177
age at which visual evoked potential reaches adult levels
6 months (VEP = cortical brain response to visual stimulus/input, i.e. visual pathway)
178
most common cause of leukocoria
cataracts
179
types of OI with blue sclera
1 & 2 3 initially with blue sclera during infancy that normalize later (4 with NORMAL sclera)
180
Syndromes associated with IRIS coloboma
cat eye syndrome Trisomy 8
181
type of coloboma in CHARGE syndrome
usually retinal
182
stage of ROP at which retinal vessels start to enter the vitreous space
Stage 3 (ridge with extraretinal neovascularization)
183
definition of threshold disease ROP
Stage 3 with Plus disease zone 1 or 2 AND 5 contiguous or 8 total clock hours
184
Risk of progression to stage 5 ROP if have threshold ROP
50% (treatment reduces this to 25%)
185
Definition of prethreshold ROP type 1
Zone 1 - any ROP with plus or Stage 3 regardless of plus OR Zone 2 - stage 2 or 3 with plus these must be treated
186
Definition of prethreshold ROP type 2
Zone 1 - stage 1 or 2 NO plus OR Zone 2 - stage 3 NO plus these can be observed 15% risk progression to type 1
187
ROP Zone that anti-VEGF can be used
Zone 1
188
Infectious conditions associated with congenital cataracts
syphilis Varicella CMV rubella toxoplasmosis
189
Metabolic conditions associated with congenital cataracts
galactosemia galactokinase deficiency mevalonic aciduria Hurler's hypocalcemia vitamin A or D deficiency
190
Genetic conditions associated with congenital cataracts
Smith Lemli Opitz WAGR Stickler Trisomy 21 Lowe's (oculocerebrorenal) syndrome
191
typical inheritance pattern of congenital glaucoma
autosomal recessive
192
Conditions associated with secondary glaucoma (presentation after neonatal period)
homocystinuria congenital rubella syndrome ROP Sturge Weber Stickler
193
Ear abnormality associated with maternal isotretinoin use
microtia
194
most common type of congenital nasal mass
dermoid
195
nasal abnormality associated with holoprosencephaly
nasal pyriform aperture stenosis
196
pre-test odds equation
pre-test odds = pre-test probability / (1-pretest probability)
197
post-test odds
pre-test odds x LR
198
post-test probability
post-test odds/ (post-test odds +1)
199
Pulmonary developmental abnormalities: embryonic stage
larygneal cleft tracheal stenosis TEF bronchogenic cyst
200
Pulmonary developmental abnormalities: pseudoglandular stage
branching abnormalities of lung CDH CLE CPAM pulmonary lymphangiectasia
201
Pulmonary developmental abnormalities: cannalicular stage
pulmonary hypoplasia surfactant deficiency alveolar capillary dysplasia
202
Pulmonary developmental abnormalities: saccular stage
pulmonary hypoplasia surfactant deficiency
203
Pulmonary developmental abnormalities: alveolar stage
pulmonary hypoplasia surfactant deficiency congenital lobar emphysema
204
mechanism of action Precedex
highly selective alpha-2 agonist results in increased GABA activity (inhibitory)
204
Stage 1 AKI
Serum Cr rise >/= 0.3 OR Serum Cr rise >/=1.5-1.9x baseline (lowest previous SCr level) UOP <0.5ml/kg/hr x6-12hrs
205
Stage 2 AKI
Serum Cr rise >/= 2-2.9x baseline UOP <0.5ml/kg/hr x12 hours
206
Stage 3 AKI
Serum Cr rise >/= 3x baseline OR vlue >/= 2.5 OR dialysis UOP <0.3ml/kg/hr x24 hours or ANURIA x12hrs
207
site of action for nondepolarizing neuromuscular blockers
POST-synaptic nicotinic receptor blockers (e.g. vec, roc)
208
209
chromosome & gene involved in myotonic dystrophy
DMPK gene chromosome 19 CTG repeats >50 mild >100 classic >1000 congenital severe form
210
Aicardi Syndrome
absent corpus callosum infantile spasms (seizures) chorioretinal lacunae
211
Nemaline myopathy
"rod-like bodies through muscle fibers on Gomori trichrome staining" arthrogryposis multiplex congenita dilated cardiomyopathy
212
Symptoms of congenital disorder of glycosylation
microcephaly & atrophy on brain MRI hypotonia strabismus abnormal fat distribution inverted nipples
213
NIDCAP
implemented from birth recs AFTER discuss w/ parents & team ongoing adjustment based on response DOES have a certification process
214
Riley Day Syndrome
familial dysautonomia Ashkenazi Jewish population jerky limb movements decreased/absent reflexes
215
Syndromes most commonly associated with agenesis of corpus callosum
Aicardi Zellweger
216
definition of colpocephaly
enlargement occipital horns lateral ventricles *usually associated with ACC
217
biomarker profile of infant with moderate or severe HIE
Elevated: - S100β protein levels in cord blood or urine (>2mcg/L) - neuron-specific enolase (>40 mcg/L) between 4 hours and 48 hours after birth - IL-6 levels in cord blood. (correlate with long term outcomes) - GFAP (astrocyte death, >0.15ng/mL, a/w abnormal MRI) - brain-derived neurotrophic factor in cord plasma
218
Erb's Palsy level of injury & presentation
C5-C6 *most common brachial plexus injury* shoulder adducted, elbow extended, forearm pronated, wrist flexed
219
Klumpke paralysis level of injury & presentation
C8-T1 "claw hand"
220
Associated finding with total brachial plexus paralysis
Horner's syndrome - check eyes! involves C5-T1
220
Palmar reflex appearance, establishment & disappearance
26 weeks --> 32 weeks established gone by 2-4 months
221
Plantar reflex appearance, establishment & disappearance
26 weeks --> 32 weeks established gone by 9-12 months
222
Sucking reflex appearance, establishment & disappearance
28 weeks --> 32-34 weeks established gone by 12 months
223
Crossed extensor reflex appearance, establishment & disappearance
30 weeks --> 34 weeks established gone by 2 months
224
Rooting reflex appearance, establishment & disappearance
30 weeks --> 34 weeks established gone by 4 months
225
Moro reflex appearance, establishment & disappearance
30-34 weeks --> 38 weeks established gone by 2-4 months
226
Tonic neck reflex appearance, establishment & disappearance
35 weeks --> 2mo established gone by 6 months
227
Stepping reflex appearance, establishment & disappearance
35-37 weeks --> term established gone by 2-3 months
228
phenobarbital mechanism of action
increases time Cl- channels are open acts on GABA-A receptor
229
phenytoin mechanism of action
block voltage-gated Na channels = blocks repetitive firing poor oral absorption --> IV preferred *AS effective as phenobarb but more protein binding and variable pharmacokinetics, making it 2nd line*
230
levatiracetam mechanism of action
decrease synaptic vesicle release acts on protein SV2A
231
benzodiazepine mechanism of action
increase GABA activity
232
lidocaine mechanism of action
sodium channel blocker
233
topiramate mechanism of action
blocks sodium channels = enhance GABA-activated chloride channel inhibit excitatory neurotransmission
234
primary neurulation timing and associated disorders
1st month (3-4 wks) anecephaly encephalocele MMC Arnold Chiari
235
secondary neurulation timing and associated disorders
2nd month (4-7 wks) lower spinal cord abnormalities tethered cord teratoma/lipoma myelocystocele
236
prosencephalic development timing & associated disorders
2-3 months aprosencephaly holoprosencephaly SOD, ACC, ASP
237
neural & glial proliferation timing & associated disorders
3-4 months micrencephaly or macrencephaly
238
neuronal migration timing & associated disorders
3-5 months lissencephaly schizencephaly pachygyria polymicrogyria
239
neuronal organization timing & associated disorders
3 months to years after birth ( axonal proliferation > dendrites & synapses > synaptic rearrangement) genetic d/o & prematurity
240
myelination timing & associated disorders
birth to years corticospinal tract up to 2 yrs association bundle not until 32yrs! cerebral WM hypoplasia prematurity malnutrition
241
Sturge Weber Syndrome
unknown/sporadic genetics PWS V1 ipsilat "tramline" cortical calcifications glaucoma (30%) seizures contralateral hemiparesis
242
tuberous sclerosis
AD, chromosome 9 & 16 ash leaf macules (Wood's lamp) CNS tumors cardiac rhabdomyoma tooth enamel pits seizures
243
Neurofibromatosis
AD, chromosome 17 CALMs that do not cross midline axillary freckling neurofibromas, schwannoma, pheo seizures, ID
244
McCune Albright
sporadic irregular brown pigmentations polyostotic fibrous dysplasia precocious puberty hyperthyroid hyperparathyroid pituitary adenoma
245
mechanism of action glucocorticoids in CLD
annexin A1 synthesis --> decreases phospholipid A2 --> reduces inflammatory mediators (TXA, prostaglandin, prostacyclin, leukotriene)
246
mevalonic aciduria presentation & inheritance
mevalonate kinase deficiency (cholesterol synthesis) autosomal recessive FTT cerebellar ataxia cataracts (1/3) recurrent febrile episodes w/ diarrhea, rash, arthralgias *spectrum includes hyperIG-D syndrome & periodic fever syndrome, symptoms depend on level of residual MK activity
247
most common HNA ab's that cause alloimmune neonatal neutropenia
HNA-1a HNA-1b HNA-2a
248
osteomyelitis
long bone metaphysis staph aureus, GBS, E. Coli hematogenous spread, +BCx 60% femur most common (>humerus>tibia>radius>maxilla) *except for GBS = humerus most common
249
EARLY congenital syphilis symptoms
before 2yo LARGE placenta "snuffles" + pneumonitis hepatosplenomegaly rash
250
LATE congenital syphilis symptoms
if congenital not treated frontal bossing saddle nose saber shins hutchinson teeth/triad (+keratitis & 8th nerve deafness)
251
age at development of red reflex
28 weeks gestation
252
age at development of pupillary light reflex
~32 weeks
253
age at development of horizontal conjugate gaze
term
254
age at development of vertical conjugate gaze
2 months old
255
nonparametric correlate to Pearson's R
Spearman's Rho
256
nonparametric correlate to t-test
Mann Whitney
257
nonparametric correlate to PAIRED t-test
Wilcoxon
258
cohort study
good for rare EXPOSURE not good for rare disease CAN calculate incidence
259
case control
good for rare DISEASE not good for rare exposure CANNOT calculate incidence
260
do NOT cross placenta
TSH IgM biliverdin insulin heparin glucagon human GH PTU
261
location of bleeding in placental abruption
decidua basalis
262
cytochrome P450 inducers
dexamethasone phenobarbital phenytoin rifampin
263
cytochrome P450 inhibitors
erythromycin fluconazole indomethacin methadone omeprazole ranitidine Cimetidine Chloramphenicol
264
lab values pattern in urea cycle defects
hyperammonemia WITHOUT acidosis OR ketosis
265
lab values pattern in organic acidemias
hyperammonia with acidosis & ketosis
266
lab values pattern in pyruvate dehydrogenase complex deficiencies
severe lactic acidosis
267
indication for c-section in maternal HIV+
if viral load is >1000
268
"male cat urine odor"
3-methylcrotonyl glycinuria multiple carboxylase deficiency
269
endocrine disturbance associated with hepatic hemangiomas
hypothyroidism *due to increased type 3 iodothyronine deiodinase in the hemangioma itself
270
chromosome alpha globin genes are located on
chromosome 16
271
chromosome beta globin genes are located on
chromosome 11
272
syndromes associated with triphalangeal thumb
Holt Oram Diamond Blackfan Fanconi Anemia
273
Diamond Blackfan Syndrome
pure red cell aplasia cardiac & renal 40% with anomalies other than heme triphalageal thumb increased risk: - aplastic anemia - MDS - acute leukemia
274
Fanconi Anemia
increased chromosomal breaks marrow hypoplasia triphalangeal thumb (or hypoplastic) hyperpigmentation radial hypoplasia renal neurodevelopmental increased risk AML, lymphoma
275
causes of microcytic anemia
iron deficiency thalassemia lead poisoning
276
causes of normocytic anemia with LOW retic count
parvo B19 transient erythroblastopenia childhood chronic disease drugs leukemia
277
causes of macrocytic anemia
B12 or folate deficiency methylmalonic aciduria acquired aplastic anemia (can also be normocytic) Diamond Blackfan Fanconi hypothyroidism (can also be normocytic) Down Syndrome
278
ectopic atrial tachycardia
1 or 2 non-SA atrial foci if not tachycardic = "ectopic atrial rhythm" can present w/ dilated CM in older child
279
I2 statistic
% chance that outcome differences between studies in a meta-analysis is due to heterogeneity (vs. an actual difference) "meta-regression" can adjust for some common confounders, then assess for heterogeneity after this
280
Q statistic
how much a given study's effect deviates from the overall pooled effect
281
enzyme defect in albinism
tyrosinase
282
xeroderma pigmentosum
decreased ability of DNA repair (low endonuclease levels) sun sensitivity (UV rays) can have progressive neurologic deterioration
283
L.E.O.P.A.R.D. syndrome
Lentigines Ecg changes Ocular htn Pulmonary stenosis Abnormal genitalia Restricted growth Deafness
284
Peutz Jeghers syndrome
mucocutaneous hyperpigmentation GI polyps (risk intussusception)
285
maternal medications associated with nail hypoplasia
warfarin hydantoins carbemazepine
286
differentiating factor epidermolysis bullosa vs. bullous ichthyosis
bullous ichthyosis will have hyperkeratosis (intertriginous areas)
287
X-linked ichthyosis
steroid sulfatase deficiency brown scales - NOT on palms/soles no flexure involvement corneal opacities cryptorchidism in males
288
disorders that can present as colloidon infant
congenital ichthyosiform erythroderma lamellar ichthyosis netherton's disease ectodermal dysplasia
289
genes involved in Cornelia de Lange
NIPBL (80%) SMC1A SMC3 HDAC8 RAD21
290
trace element associated with renal complications
chromium
291
trace element associated with CNS complications
manganese
292
trace element associated with hepatic complications
copper
293
disorders associated with abnormal neutrophil function
hyperimmunoglobulin E leukocyte adhesion deficiency myeloperoxidase deficiency Chediak Higashi Chronic Granulomatous Disease
294
disorders of abnormal neutrophil production
Shwachman Diamond Kostmann Reticular dysgenesis (deafness + lymphopenia)
295
fetal growth rate 3rd trimester
~20g/kg/day
296
fetal energy requirement
35-55kcal/kg/day
297
donor milk components eliminated by pasteurization
bacterial pathogens viral pathogens lipoprotein lipase bile salt activated lipase IgM?
298
donor milk components reduced by pasteurization
IgA IgG IgM? lipid lactoferrin lysozyme
299
donor milk components unaffected by pasteurization
linoleic acid fatty acids monosaccharides oligosaccharides total protein content total lactose content
300
nutrients absorbed in duodenum
iron selenium calcium magnesium phosphorus fatty acids carbohydrates amino acids fat soluble vitamins
301
nutrients absorbed in jejunum-ileum
water soluble vitamins some Na, Cl, K & water
302
nutrients absorbed in colon
SCFA vitamin K majority Na, Cl, K & water
303
nutrients absorbed in terminal ileum
B12 bile salts Zinc
304
most prevalent fatty acids in human milk
oleic followed by palmitic
305
what is the Holman index and what does it signify
triene: tetraene ratio (# of double bonds) typically refers to mead acid: AA ratio >0.2 is significant marker of essential FA deficiency
306
protein content term vs. preterm formulas
higher protein content AND whey:casein ratio in PTF
307
iron content term vs. preterm formulas
LOWER iron content in PTF
308
lactose content term vs. preterm formula
LOWER lactose content in PTF
309
Sodium content term vs. preterm formula
higher Na content in PTF
310
electrolyte content cow's milk vs breastmilk
lower Na, Cl, K, Ca, Phos, Mg in breast milk
311
amino acid content cow's milk vs. breastmilk
most AA's are lower in breastmilk
312
changes in protein content of breastmilk over time
protein content decreases as milk matures
313
VLCFA content cow's milk vs. breastmilk
higher VLCFA in breastmilk (but also contains BSSL to help with absorption)
314
fat/lipid changes in breastmilk over time
decreasing cholesterol & phospholipids with time colostrum higher in TGs (vs. cholesterol & PLs) cholesterol does NOT vary with maternal diet
315
fat content cow's milk vs breastmilk
higher cholesterol breast milk (very minimal in formulas)
316
specific type of sugar that can help reduce retinal injury and may enhance surfactant production
inositol (higher in BM vs. formula)
317
two drugs that can cause nephrogenic DI
lithium ampho B
318
change in K+ for change in pH
0.1 decrease pH = 0.6 increase K+
319
AT 2 effects
Na/H20 reabsorption (direct tubular effect) arteriolar vasoconstriction aldosterone secretion ADH secretion activate Vit D via PTH activate epo
320
conditions/exposures that decrease ADH effect
hypercalcemia PGE2 administration Bartter's Syndrome proximal RTA
321
conditions associated with Fanconi syndrome
proximal tubule dysfunction --> excess urine loss AA, glu, phos, HCO3 cystinosis tyrosinemia fructose intolerance galactosemia Lowe Syndrome (oculocerebrorenal)
322
disorders associated with nephrocalcinosis
Williams RTA type 1 Bartter's primary hyperparathyroidism
323
copper requirement preterm infants
120mcg/kg/day
324
zinc requirements preterm infants
350mcg/kg/day
325
what increases and decreases intestinal zinc absorption?
increases: AA's, protein decreases: calcium, iron, magnesium, soy milk (contain phytates that decrease absorption)
326
lab findings osteopenia of prematurity/metabolic bone disease
increased alk phos NORMAL calcium low-normal phos normal or elevated PTH & 1,25-OHD increased renal excretion of calcium increased renal tubular reabsorption of phosphorus
327
PN osmolarity equation
(AA x 8) + (glu x7) + (Na x2) + (Ph x 0.2) - 50 AA & glu = g/L Na= meq/L Phos = mg/L
328
things that impair copper absorption
ascorbic acid iron zinc glucocorticoid treatment
329
significance of urinary fatty acid binding protein
I-FABP - increased levels in NEC
330
amino acid produced almost exclusively by enterocytes
citrulline - can be a prognostic marker in short gut syndrome
331
earliest emergence of sucking and swallowing ability
16 weeks (not coordinated)
332
GA at which normal gastric emptying can be expected
32 weeks (also when stomach acid is detected)
333
timing of obliteration and recanalization of intestinal lumen
obliterated - 6 weeks recanalized - 8 weeks
334
number of degrees, direction and anchor point around which midgut (small intestine portion) rotation occurs
270 degrees, COUNTERclockwise, around superior mesenteric artery *colon rotates another 180 degrees before returning to abdominal cavity, then fixation occurs
335
portion of small intestine from which Meckel's diverticulum occurs
ileum
336
is the anal canal derived from endoderm or ectoderm
upper 2/3's is endoderm (hindgut) lower 1/3 is ectoderm "pectinate" line separates the two
337
timing of neural crest cell migration to create enteric innervation
5-12 weeks
338
most common gene associated with Hirschsprung's Disease
Ret (70% of cases) 30% of HD has associated anomalies
339
apical membrane receptor for glucose & galactose transport in intestine
SGLT-1 *Na-K pump on basal membrane facilitates this
340
apical membrane receptor for fructose transport in intestine
GLUT5
341
basal membrane transporter for glucose, galactose & fructose
GLUT2
342
reason for lower protein digestive capability in neonates
increased gastric pH --> decreased pepsinogen to pepsin conversion lower chymotrypsin and trypsin in duodenum
343
mechanisms of protein absorption
Na/amino acid co-transporter H+/peptide co-transporter facilitated carrier for AA absorption *aided by Na-K ATPase pump
344
when are pancreatic lipase levels comparable to adult levels
~6+ months postnatal age
345
specific anatomical findings in malrotation
majority of small bowel pushed to right side cecum displaced to RUQ (usually RLQ) Ladd's bands (fibrous tissue from cecum to retroperitoneum that bowel can twist around)
346
associations with Hirschsprung's Disease
T21 heterochromia Waardenburg Syndrome congenital deafness 13q deletion pheochromocytoma neurofibromatosis neuroblastoma Jeune syndrome
347
safe radiation threshold for pregnant women
<5 rad
348
Optimal timing and components of quad screen
14-20 weeks (16 weeks optimal) B-hcg Inhibin A Estriol Serum AFP (least sensitive of the 4)
349
Optimal timing and components of quad screen
14-20 weeks (16 weeks optimal) B-hcg Inhibin A Estriol Serum AFP (least sensitive of the 4)
350
Most common reason for elevated first trimester AFP
Inaccurate dating/younger GA
351
Physiology of late decelerations
Uteroplacental insufficiency -> fetal hypoxia -> chemoreceptor and alpha adrenergic response -> fetal HTN -> resultant fetal reflex bradycardia OR UPI -> fetal hypoxia -> myocardial depression -> bradycardia
352
Incidence of transient neonatal myasthenia gravis
10-20% of infants of mothers with MG disease severity is NOT correlated with maternal Ab titers
353
Palpebral fissures in FAS
Shortened Other features: long smooth philtrum, thin upper lip vermillion border, cns problems, cardiac issues
354
Which has greater risk of fetal malformations - GDM or DM type 1/2?
Type 1/2
355
Dominant thyroid hormone during fetal life
rT3 (secondary to D3 deiodinase activity that converts T4 -> rT3)
356
Category 3 tracing components
Absent variability AND one of the following: - recurrent late decels - recurrent variable decels - bradycardia OR Sinusoidal pattern
357
body systems with best prenatal anomaly detection rate
CNS (88%) urinary (84%) GI is lower (50%) -- TEF is only ~7%!
358
epidemiology of single UA
<1% of all infants 3-4x more common in twins a/w GI, GU and cardiac anomalies
359
when is the urachus supposed to obliterate
20 weeks - failure to do so results in complete or partial patent urachus/cyst/diverticulum
360
normal nuchal thickness
0.5-2mm (>3mm = 1/6 risk aneuploidy)
361
use of methimazole in 1st trimester can be associated with what anomaly
cutis aplasia preferred agent AFTER first trimester
362
propranolol mechanism of action in hyperthyroidism
blocks peripheral conversion of T4 -> T3
363
features of cryptorchidism
majority on RIGHT, 2/3 unilateral majority inguinal failure of testicular descent 7th month
364
2 mechanisms of early hypocalcemia
1. diabetes - decreased transplacental transfer 2. pre-eclampsia - increased Mg decreases PTH release
365
bicarbonate effect on calcium homeostasis
increases Ca binding to albumin and decreases free ionized Ca PTH --> increased bicarbonate excretion in kidney (with compensatory increase in Cl- reabsorption)
366
EKG change in hypocalcemia
prolonged ST segment
367
electrolyte abnormality associated with Amphotericin B
hypomagnesemia
368
alternate calculation for GIR
(dex % x ml/kg/day) / 144
369
glucogenic only amino acids
Alanine* Arginine Asparagine Aspartic acid Cysteine Glutamine* Glycine Histidine Methionine Proline Serine Valine
370
ketogenic only amino acids
leucine lysine
371
glucogenic AND ketogenic
Phenylalanine Isoleucine Threonine Tryptophan Tyrosine
372
conditions associated with brittle hair
aginosuccinate lyase & synthetase deficiency Menke's
373
lab pattern in fatty acid oxidation defect
acidosis WITHOUT ketosis (lactic acidosis)
374
DNPH test
Dinitrophenylhydrazine tests for ketoacids in MSUD, PKU, tyrosinemia, histidinemia
375
ferric chloride urine test
tests for oxoacids in PKU (blue-green), MSUD (green-grey) and tyrosinemia (green)
376
nitroprusside urine test
tests for sulfur-acids in homocystinuria
377
long term risks of galactosemia despite treatment
learning disability premature ovarian failure
378
alpha-1 receptor primary effects
1. smooth muscle contraction 2. increased contractility 3. gluconeogenesis 4. DECREASED insulin release
379
which amino acid is linked to cognitive outcomes in MSUD
plasma leucine concentrations
380
PKU pathway
phenylalanine --> tyrosine --> dopamine phe hydroxylase = PKU (low tyr)
381
tyrosinemia type 1
fumarylacetoacetate hydrolase deficiency --> cannot convert tyrosine to fumarate + acetoacetate *key finding = elevated URINE succinylacetone cognitive defects often persist despite treatment
382
tyrosinemia type 2
defect in tyrosine degradation "oculocutaneous" tyrosinemia symptoms typically improve following treatment
383
treatment of tyrosinemia
limit phe, tyr, methionine *nitisinone (aka NTBC) - reduces toxic metabolite buildup
384
treatment of TRANSIENT tyrosinemia
vitamin c & low protein diet typical resolution in 4-6 weeks normal urine succinylacetone & organic acids
385
amino acid findings with B12 deficiency
low methionine high homocysteine high MMA
386
non-ketotic hyperglycinemia
glycine --> NH3 + CO2 a/w agenesis of corpus callosum elevated CSF glycine "burst-suppression" on EEG hiccups tx = sodium benzoate (combines with glycine to water soluble form --> urine)
387
protein disorder with +nitroprusside test
cystinuria
388
protein disorder with BLUE-GREEN ferric chloride test
histidinemia
389
protein disorder with GREEN-GREY ferric chloride test
MSUD
390
neuroimaging finding with glutaric aciduria I
frontotemporal atrophy
391
mevalonic aciduria
disorder of cholesterol synthesis increased CK
392
chromosome involved in transient neonatal diabetes mellitus
chromosome 6
393
clinical features glutaric aciduria type 1
acute encephalopathy (typically triggered by an infection) abnormal posturing, severe dystonia, opisthotonos & athetosis macrocephaly (from birth)
394
diagnostic yield of WGS
50-70%
395
lab differences to distinguish mitochondrial from pyruvate metabolism disorders
mitochondrial = NORMAL pyruvate levels typically, with significant elevation in lactate pyruvate metabolism d/o result in elevation of BOTH
396
gene associated with campomelic dysplasia
SOX9
397
signs of Triploidy
IUGR hydrops renal defects multiple congenital anomalies
398
false positive biotinidase deficiency is associated with which NICU interventions?
TPN & aminoglycoside administration
399
medication that can help treat either type of DI
thiazide diuretics
400
gestational age when EEG becomes continuous
~31-33 weeks
401
alpha-2 receptor primary effects
"settling down effect" 1. decreased NE release 2. smooth muscle relaxation
402
beta-1 receptor primary effects
1. increased HR 2. increased conduction velocity (AV node & purkinje system) 3. increased contractility 4. increased renin secretion
403
beta-2 receptor primary effects
1. vascular & bronchial smooth muscle relaxation 2. decreased intestinal motility/tone 3. increased HR 4. increased contractility 5. glycogenolysis and insulin release
404
what causes the release of thermogenin and what does it do?
T3 (esp during surge at birth) induces chemical thermogenesis from brown fat
405
surfactant protein B
chromosome 2 hydroPHOBic surfactant absorption & spreading *though rare, most common defect is frameshift mutation in SFTPB gene (121ins2)
406
surfactant protein C
chromosome 8 hydroPHOBic surfactant function: absorption & spreading
407
surfactant protein D
chromosome 10 hydroPHILic host defense - antioxidant surfactant reuptake & recycling
408
caffeine mechanisms of action
Stimulation of the medullary respiratory center Increased sensitivity to carbon dioxide Improved diaphragmatic contractility and airway function *antagonizes adenosine receptors A1 & A2 in the brain
409
pulmonary conditions as a result of problems during the embryonic stage
tracheal & pulmonary agenesis laryngeal cleft TEF
410
pulmonary conditions as a result of problems during the pseudoglandular stage
CDH CCAM CLE bronchopulmonary sequestration
411
pulmonary conditions as a result of problems during the cannalicular stage
pulmonary hypoplasia ACD surfactant deficiency
412
pulmonary conditions as a result of problems during the saccular stage
pulmonary hypoplasia ACD CLE surfactant deficiency
413
pulmonary conditions as a result of problems during the alveolar stage
pulmonary hypoplasia ACD CLE surfactant deficiency
414
alveolarization is ENHANCED by:
vitamin A thyroxine
415
alveolarization is DELAYED by:
postnatal steroids supplemental O2 nutritional deficiency mechanical ventilation insulin inflammation
416
Features associated with right atrial isomerization
asplenia trilobed lungs bilaterally midline liver higher risk true malro
417
left atrial isomerization
polysplenia bilobed lungs bilaterally interrupted IVC single ventricle lower mortality than RAI
418
prenatal forces that clear FLF
~35% cleared in days leading up to birth 1. decreased formation/secretion 2. Na reabsorption and decreased Cl secretion causes fluid to go into interstitium 3. increased lymphatic oncotic pressure pulls fluid in
419
intrapartum forces that clear FLF
~30% cleared during active labor: 1. mechanical compression 2. catecholamine surge (ENaC expression increases) 3. cortisol, thyroid hormone also increase Na transport out of alveolar space
420
postnatal forces that clear FLF
~35% cleared postnatally 1. lung distension drives fluid out of alveolar space 2. increased lymphatic oncotic pressure
421
surfactant proteins induced by steroid administration
A, B & C
422
surfactant protein A
chromosome 10 tubular myelin formation (increased inflammation and ineffective organism clearance null animal model) host defense NO known mutations of human gene reported, but some polymorphisms can result in more severe RDS
423
most common known genetic cause of surfactant deficiency
ABCA3 deficiency - ABCA3 assists with lipid transport --> deficiency results in lack DPPC and PG - decreased lamellar bodies
424
factors that accelerate surfactant & lung maturation
placental insufficiency - cHTN, PIH, IUGR prolonged ROM +/- chorio cervical incompetence hemoglobinopathy corticosteroids thyroid hormone, TSH, TRH cAMP caffeine B-agonist prolactin estrogen EGF TGF-alpha
425
factors that delay surfactant & lung maturation
DM/insulin Rh isoimmunization 2nd twin male sex c/s prematurity TGF-BETA androgens
426
% of infants with BPD who have PH
~30%
427
GA at which type II pneumocytes begin producing surfactant
~26 weeks (saccular stage)
428
at what stage do type II pneumocytes begin to differentiate and contain lamellar bodies
cannalicular
429
Mechanisms that contribute to apnea of prematurity
1. Enhanced sensitivity of the respiratory control system to inhibitory neurotransmitters 2. Hypoxic ventilatory depression secondary to increased peripheral chemoreceptor sensitivity in the carotid bodies 3. Impaired hypercapnic ventilatory response 4. Exaggerated laryngeal chemoreflex 5. increased active sleep, inhibition of skeletal muscle activity
430
GA until which hypoxic ventilatory depression persists
~35 weeks
431
main CAP trial findings
- improved duration of intubation/PPV/O2 use - lower rates of BPD - decreased PDA needing treatment - decreased death/major disability @ 18mos (not sig at 5y f/u) - decreased incidence severe ROP - temporary slow wt gain --> no difference after 4 wks of therapy
432
adverse outcomes associated with LISA per existing trials
higher incidence of ROP and PDA
433
which aortic arches regress
1, 2 & 5 ("don't stay alive") 1 --> maxillary artery remains 2 --> stapedial artery remains
434
3rd aortic arch structures
common carotids
435
4th aortic arch structures
proximal right subclavian left 4th arch --> transverse aortic arch
436
6th aortic arch structures
pulmonary artery DA
437
hormone associated with ROP severity
IGF-1 (reduced after birth due to lack of placental supply, normal increase in term infants between 1-15 DOL that does not happen in preterm infants) low IGF-1 ==> decreased VEGF action and decreased vascular growth
438
example of a time-dependent drug
ampicillin time-dependent = bactericidal action depends on time spent above the MIC * give more frequently to increase bactericidal activity
439
example of a concentration-dependent drug
gentamicin concentration dependent = bactericial action (& post-antibiotic effect) depend on max concentration * give higher dose to increase bactericidal activity
440
most common vascular ring
double aortic arch (50% of cases)
441
2nd most common vascular ring
right aortic arch with aberrrant left subclavian (30% of cases)
442
apgar scores associated with increased risk of CP
10 and 20 minute of 0-3 incur significant increased risk of CP (17-60%)
443
risk of malignancy with SCT
low (neonatal form)
444
therapeutic index formula
TD 50/ED 50 TD = toxic dose in 50% of subjects ED = effective dose in 50% of subjects
445
Malformations most common with antiepileptics
Neural tube defects (VPA most common) Urogenital Craniofacial
446
Malformations most common with antiepileptics
Neural tube defects (VPA most common) Urogenital Craniofacial
447
Malformations most common with antiepileptics
Neural tube defects (VPA most common) Urogenital Craniofacial
448
Side effects of epidural
Maternal fever Longer 2nd stage labor Maternal hypotension
449
Category 1 tracing
Normal HR Normal variability (moderate, 6-25 bpm amplitude) No lates or variables +/- early & accelerations
450
Free water deficit formula
L = % body water * wt kg * ([current/ideal] - 1)
451
Which type of bronchopulmonary sequestration can be associated with other anomalies?
EXTRA-lobar
452
Clinical disease associated with surfactant A deficiency or dysfunction
More severe RDS picture
453
Clinical disease associated with surfactant B deficiency or dysfunction
Interstitial lung disease childhood
454
Clinical disease associated with surfactant C deficiency or dysfunction
Mild disease to respiratory failure requiring transplant Symptoms not apparent until few months of age
455
Organisms most commonly associated with chorioamnionitis
Ureaplasma & mycoplasma
456
Pre vs post natal steroid exposure effect on lungs
ANCS - decrease mesenchymal tissue & increase airspace volume Postnatal - arrest alveolar septation & micro vascular development
457
Facts for choanal atresia
50% associated with other anomalies 2/3 unilateral (RIGHT most common) Females more commonly affected
458
Lung parameters INCREASED in neonates (vs adult)
RR residual volume minute ventilation
459
Lung parameters DECREASED in neonate (vs adult)
Tidal volume Total lung capacity Inspiratory capacity Vital capacity
460
Lung parameters SIMILAR in neonate (vs adult)
Dead space FRC
461
iNO mechanism of action
L-arginine —> iNO (via nitric oxide synthetase) —> cGMP production —> increased Ca++ EFFLUX —> smooth muscle relaxation
462
Effect of high chest wall compliance in neonate
LESS opposing force to lung recoil —> increased atelectasis
463
EKG changes with endocardial cushion defect
Superior axis deviation (superior displacement of AV node)
464
Most common cause of hypertrophic cardiomyopathy in neonates and children under 4yo
Noonan’s Syndrome
465
Indomethacin MOA
PGE2 Inhibitor
466
PDA constrictors
PGF-2alpha Bradykinin Oxygen Acetylcholine
467
First line treatment atrial flutter
Usually due to atrial re-entry Digoxin (blocks ventricular rate)
468
Which twin is more commonly affected by congenital heart disease in TTTS
Recipient
469
Blooms Taxonomy
Knowledge (describe) Comprehension (explain) Application (choose tx) Analysis (differential dx) Synthesis (most likely diagnosis) Evaluation (decide on broader level management)
470
Organisms implicated in osteomyelitis
Staph aureus (most common) H. Flu GBS E. coli Candida N. Gonorrhoeae
471
Infections that require airborne precautions
TB Varicella *also require simultaneous contact precautions
472
Infections that require droplet precautions
Rubella (+contact) Parvo B19
473
Risk of symptoms with congenital CMV by route of transmission
Most are typically asymptomatic, regardless of transmission route
474
Treatment for congenital Toxo
Pyrimethamine & sulfadiazine x1 year
475
Risk of transmission of congenital toxo through pregnancy
Risk increases with advancing gestation, more severe disease if acquired earlier in pregnancy
476
Risk of transmission of congenital syphilis through pregnancy
Transmission possible at any time, worse if acquired later in pregnancy
477
Risk of transmission of congenital rubella through pregnancy
Higher risk transmission early and late in pregnancy, more severe if acquired early
478
Risk of transmission of congenital cmv through pregnancy
Can occur any time, more severe if acquired early
479
Treatment for congenital TB
INH Rifampin Pyrazinamide Aminoglycoside
480
Risk of HIV transmission via breastmilk
9-15%
481
Presumptive negative congenital HIV testing
- Negative RNA or DNA pcr x2, usually at 2 & 4 weeks - Negative RNA or DNA pcr at 8 weeks x 1 - Negative antibody at greater than 6 months
482
Definitive negative congenital HIV
- Negative RNA or DNA pcr x2 @ 1 & 4 months - Negative antibody x2 at greater than 6m
483
Definitive negative congenital HIV
- Negative RNA or DNA pcr x2 @ 1 & 4 months - Negative antibody x2 at greater than 6m
484
Definitive negative congenital HIV
- Negative RNA or DNA pcr x2 @ 1 & 4 months - Negative antibody x2 at greater than 6m
485
Which is the only immunoglobulin produced by the FETUS
IgM - small amounts of (All IgG is maternal until after birth)
486
Problem in Bruton’s agammaglobulinemia and inheritance pattern
X-linked Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)
487
Problem in Bruton’s agammaglobulinemia and inheritance pattern
X-linked recessive Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)
488
Problem in Bruton’s agammaglobulinemia and inheritance pattern
X-linked Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)
489
Problem in Bruton’s agammaglobulinemia and inheritance pattern
X-linked Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)
490
Neutrophil function in preterm vs term vs adult
Preterm - decreased phagocytic ability Term - similar phagocytosis, granule & degranulation response as adults
491
Duration of treatment HSV congenital
10 days if high risk transmission & negative testing 14 days if SEM 21 days if CNS
492
Gene defect in LAD
Beta 2 integrin gene (ITGB2)
493
Amp C organisms
Serratia Pseudomonas Acinetobacter Citrobacter Enterobacter Amp C inducible are resistant to cephalosporins & beta-lactamase inhibitor antibiotics too
494
Congenital asplenia syndromes
Ivemark (+heterotaxy) Pearson (+bone marrow failure) Stormorken (+thrombocytopenia) Smith-Myers-Fineman (+X-linked, ID, cryptorchidism)
495
Peripheral smear finding specific to splenic dysfunction
Howell-Jolly bodies *can be normal up to 7 DOL (Heinz bodies can be seen, but not specific)
496
Treatment for symptomatic congenital CMV & rationale
6 months valgancyclovir: - better neuro developmental AND hearing outcomes vs 6 weeks (hearing only) - valgan similar levels as IV ganciclovir
497
Early onset sepsis pathogens in order of frequency
GBS > E. Coli > ENTEROCOCCUS > Staph aureus > Listeria
498
Most common sequelae of untreated ASYMPTOMATIC congenital toxo
Chorioretinitis *SYMPTOMATIC infants more commonly have ID, seizures, spasticity & deafness
499
Commonly used class of medications that INHIBIT P450
Proton pump inhibitors *exception: pantoprazole, least interaction
500
% within 1 SD of mean
34.1% on EACH side of the mean
501
% infants within the 2nd SD interval from the mean
13.6% on EACH side of mean
502
% of infants within the 3rd SD interval from the mean
2.2% on EACH side of the mean
503
When does cumulative incidence approximate incidence rate
When: - observation period is short - disease prevalence is low - duration of disease is same in exposed & non-exposed
504
When does cumulative incidence approximate incidence rate
When: - observation period is short - disease prevalence is low - duration of disease is same in exposed & non-exposed
505
When does cumulative incidence approximate incidence rate
When: - observation period is short - disease prevalence is low - duration of disease is same in exposed & non-exposed
506
When does cumulative incidence approximate incidence rate
When: - observation period is short - disease prevalence is low - duration of disease is same in exposed & non-exposed
507
Relationship between statistical power and SD
Inverse - higher power with smaller SD
508
Thyroid levels in preterm infants over first 1-2 weeks of life
- May have blunted TSH surge or lower T4 - may have increased rT3 during illness - decreased iodine stores - can have low total T4 but normal free T4
509
Which thyroid hormone is increased during times of illness?
rT3
510
Congenital effects of intrauterine exposure to methimazole
Cutis aplasia TEF Esophageal atresia Choanal atresia
511
Thyroid hormone component that is elevated in preterm infant vs term
Thyroglobulin
512
Which structure are the Wolffian Ducts derived from?
Mesoneohros duct
513
Which structure are the Müllerian ducts derived from?
Paramesonephric duct
514
At what gestational age do testes begin to descend into inguinal canal?
Around 28 weeks
515
What provides stimulation for fetal testosterone synthesis before the tested take over and at what GA does this happen?
Maternal Hcg —> LH triggers Leydig cell production of testosterone after 8 weeks
516
High or low phosphate formula for hypocalcemia?
LOW phosphate formula
517
High or low phosphate formula for hypocalcemia?
LOW phosphate formula
518
High or low phosphate formula for hypocalcemia?
LOW phosphate formula
519
Drugs that can displace bilirubin from albumin
Sulfonamides Ceftriaxone Chloral hydrate Ibuprofen
520
Drugs that bilirubin can displace from albumin
Ampicillin Penicillin Phenobarbital Phenytoin
521
Names of categorical variables
Ordinal Nominal
522
What parameter can change PPV & NPV?
Prevalence (does NOT change sensitivity & specificity, as these are characteristics of the test)
523
NADPH levels in various hemolytic anemias
Pyruvate kinase deficiency - NORMAL (Amish population) G6PD - LOW
524
Classic vs. early vs. late onset vitamin K deficiency timing
Classic: 3-7 days of age (lack of vit k stores) Early: 24 hol (mat drugs that inhibit vit k) Late: 2 weeks to 6m (inadequate intake or liver failure, more likely in boys and during summer)
525
Mechanisms of physiologic indirect hyperbilirubinemia
- increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation) - decreased hepatic uptake from plasma (low ligandin) - impaired excretion - decreased conjugation
526
Mechanisms of physiologic indirect hyperbilirubinemia
- increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation) - decreased hepatic uptake from plasma (low ligandin) - impaired excretion - decreased conjugation
527
Mechanisms of physiologic indirect hyperbilirubinemia
- increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation) - decreased hepatic uptake from plasma (low ligandin) - impaired excretion - decreased conjugation
528
% total body iron contained in hemoglobin
80%
529
Healthy term infant total body iron content
75mg/kg
530
Healthy term infant total body iron content
75mg/kg
531
Healthy term infant total body iron content
75mg/kg
532
Rate of fetal iron accrual
1.6-2 mg/kg/day
533
Classic lab findings of vitamin K deficiency bleeding
Prolonged PT Normal aPTT and platelet count
534
Mechanism of thrombocytopenia in TAR syndrome
Block of megakaryocyte precursor
535
Neuroblastoma facts
2nd most common neonatal tumor Adrenal mass (>70% of cases) Sympathetic symptoms (diarrhea, flushing, Horner’s, orbital ecchymoses, htn) A/w central hypoventilation, Hirschsprungs, NF1
536
Syndromes associated with Wilms tumor
Beckwith Weidemann Denys-Drash Perlman WAGR
537
Most common site of kernicterus
Basal ganglia
538
Newborn screen results with sickle cell and thalassemia variants
FAS = sickle cell TRAIT FS = sickle cell disease or sickle beta thal FSA = sickle cell beta+
539
Major diagnostic criteria CHARGE
Coloboma Cranial nerve dysfunction Characteristic ear Choanal atresia
540
What association does Townes Brocks syndrome look similar to?
VACTERL T-B syndrome has a genetic test and is considered a true “syndrome”
541
Wart like nevus that can be associated with skeletal defects, ocular complications, CNS disease
Epidermal nevus
542
Example of an x-linked dominant condition that is primarily seen in females and why
Incontinentia pigmenti Lethal in males
543
Disorders with FISH probes available
T13, 18 & 21 Prader-Willi Angelman Cri du chat Digeorge Miller Dieker (congenital lissencephaly) Williams 4p deletion (Wolf Hirschhorn)
544
Syndromes associated with advanced paternal age
Achondroplasia Crouzon Apert NF OI Thanatophoric Dysplasia
545
Disorders more common in FEMALES
Congenital hip dysplasia Choanal atresia Choledochal cysts Hemangioma ASD PDA Anencephaly Congenital hypothyroid Ureterocele
546
Trisomy 21 risk of recurrence
1% if no parental translocation 5% if paternal translocation 10-15% if maternal translocation
547
Cloverleaf skull
Thanatophoric dysplasia
548
Eosinophils on Tzanck smear
Incontinentia pigmenti
549
MOST clinically significant difference between preterm and term skin
Structure of stratum corner (thinner in infants born <32 weeks)
550
typical location for Nevus of Ota
periorbital, face
551
typical location for Nevus of Ito
shoulders, supraclavicular, neck, upper back
552
pharmacokinetics of propranolol
NON-selective B-blocker (blocks B1 and B2) 1st order kinetcs half life 3-6 hours, peak effect 1-4 hours lipoPHILic
553
disorder that shares PTPN11 mutation with Noonan's & it's characteristics
LEOPARD syndrome Lentigines ECG abnormalities Ocular hypertelorism Pulmonic stenosis Abnormal genitalia Retardation of growth Deafness
554
common disorder related to keratin mutation
epidermolytic ichthyosis AD inheritance keratin 1 or 10 mutation keratin hyperproliferation & fragility --> poor skin barrier
555
Common condition associated with imprinting during assisted reproductive therapy
Beckwith-Weidemann *unclear if due to ART or underlying infertility
556
differentiating feature between urea cycle defects and transient hyperammonemia
NORMAL plasma amino acid profile for transient hyperammonemia
557
imprinting disorder of chromosome 6
transient neonatal diabetes mellitus
558
what type of genetic test can detect UPD?
SNP microarray *can detect the loss of normal variations between maternal & paternal chromosome and identify if two from one parent have been inherited *also good for deletions, duplications, aneuploidy
559
clavicle hypoplasia, drooping shoulders, wide fontanelles/sutures
cleidocranial dysplasia
560
two types of prenatal screening that can be DIAGNOSTIC (vs just screening)
CVS amnio
561
indications/conditions screened for by cffDNA
aneuploidy (NOT triploidy) Rh status sex identification CAH risk
562
reasons for inadequate amount of fetal DNA
early GA suboptimal sampling maternal obesity abnormal fetal karyotype
563
prenatal quad screen findings in Smith-Lemli-Opitz
low uE3 (decreased steroid precursors) low AFP low hcg
564
disorders with DOWNslanting palpebral fissures
Rubenstein Taybi Cri du Chat
565
% chance of major anomaly with 3 minor anomalies
20%
566
% of healthy newborns with 1 minor anomaly
20%
567
another name for generalizability of a study
external validity
568
characteristics of "research" vs. clinical practice
systematic investigation to test a hypothesis with intent to contribute to general knowledge clinical practice should aim to provide benefit with "reasonable chance of success"
569
shallow orbital ridges, profound hypotonia, calcific bone stippling
Zellweger Syndrome
570
diarrhea, dermatitis, eosinophilia
SCID
571
572
Methemoglobinemia at birth is associated with what condition?
Cytochrome-b5 reductase deficiency
573
Skin condition associated with pyloric atresia
EB
574
Type of cerebral palsy associated with hyper and hypotonia in same muscle with fine and gross motor delay
Extrapyramidal/athetoid May also have hearing and speech abnormalities
575
Causes of decreased cerebral blood flow
Low CO2 Increased PaO2 Increased hemoglobin Decreased fetal hgb
576
Most commonly cited disadvantage of case-control study
Recall bias
577
What infection should you think of if mother has a cerclage or other intrauterine/vaginal device?
Candidasis
578
What should thalalmic hemorrhage make you think of?
Cerebral sinovenous thrombosis

Manisha Neonatology Board Review (1 decks)

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