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Manisha Neonatology Board Review > Manisha Neonatology Board Review > Flashcards

Manisha Neonatology Board Review Flashcards

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
Q

Marfan Syndrome

A
  • 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
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24
Q

Carpenter Syndrome

A
  • AR
  • cardiac
  • polydactyly & feet syndactyly
  • laterally displaced inner canthus
  • brachycephaly or pointed head appearance
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25
Q

Ellis van Creveld

A
  • AR
  • chondroectodermal dysplasia
  • common/single atrium
  • short distal extremities
  • polydactyly
  • nail hypoplasia
  • gingival frenulae
  • narrow thorax
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26
Q

Fanconi pancytopenia Syndrome

A
  • AR
  • increased chromosomal breaks lymphocytes
  • hyperpigmentation
  • small radius & thumb
  • triphalangeal thymb
  • pancytopenia (~7yo but can be earlier)
  • Dx: chromosomal breakage study
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27
Q

Meckel Gruber Syndrome

A
  • AR
  • 17q21-q24
  • occipital encephalocele
  • microphthalmia
  • ear anomalies
  • micrognathia
  • cystic dysplastic kidneys
  • pulmonary hypoplasia
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28
Q

Smith Lemli Opitz Syndrome

A
  • AR
  • defect in cholesterol synthesis
  • 2/3 toe syndactyly
  • anteverted nostrils
  • hypogenitalia
  • elevated 7-deoxycholesterol
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29
Q

TAR Syndrome

A
  • AR
  • thrombocytopenia
  • absent radius bilateral
  • ulnar abnormalities (100%)
  • cardiac (ToF, ASD)
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30
Q

Fryns Syndrome

A
  • AR
  • CDH + neurologic malformation (dandy walker, ACC, etc)
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31
Q

Fragile X Syndrome

A
  • 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
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32
Q

Menke’s Kinky Hair

A
  • 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
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33
Q

Klinefelter’s Syndrome

A
  • 47 XXY
  • increased risk AMA
  • long arms/legs
  • hypogonadism + infertility
  • socially awkward
  • normal IQ
  • gynecomastia
  • euchanoid habitus
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34
Q

Turner’s Syndrome

A
  • 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
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35
Q

CHARGE Syndrome

A
  • CHD7 mutation (chromosome 8q12) –> altered chromatin
  • AD, majority de novo
  • Coloboma
  • Heart disease
  • Atresia choanae
  • Retarded growth
  • Genital hypoplasia
  • Ear anomalies
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35
Q

Cat Eye Syndrome

A
  • duplication chromosome 22q11 (“opposite” DiGeorge)
  • TAPVR
  • anal atresia
  • coloboma iris
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36
Q

Triploidy

A
  • complete set extra chromosomes (2%)
  • 3/4 finger syndactyly
  • large placenta w/ hydatiform changes
  • IUGR
  • brain abnormalities
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37
Q

Cornelia de Lange

A
  • cohesin gene mutation
  • NIPBL (5p13)
  • SMC1L1 (Xp11.22)
  • SMC3 (10q25)
  • synophrys
  • down turned thin upper lip
  • micromelia
  • VSD
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38
Q

Mobius Sequence

A
  • majority sporadic
  • 6th & 7th nerve palsy (bilateral)
  • destruction central brain nuclei –> PN –> myopathy
  • a/w limb reduction defects (Poland, Klippel Feil)
  • expressionless facies
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39
Q

Pierre Robin Sequence

A
  • mandibular hypoplasia before 9 weeks
  • micrognathia –> glossoptosis
  • cleft palate
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40
Q

Goldenhaar Syndrome

A
  • 1st + 2nd branchial arch anomalies
  • a/w maternal DM
  • absent ears
  • growths around eyes
  • malar, maxillary & mandibular hypoplasia
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41
Q

Klippel- Feil Sequence

A
  • abnormal cervical vertebrae
  • short neck
  • low posterior hairline
  • limited head movement
  • Sprengel deformity (small high scapula)
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42
Q

Klippel Trenaunay Weber Syndrome

A
  • sporadic
  • asymmetric limb hypertrophy
  • vascular lesions
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43
Q

Poland Sequence

A
  • sporadic
  • M>F, 3:1
  • 75% right sided
  • subclavian artery disruption –> limb & pectoral underdevelopment
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44
Q

Silver Russell Syndrome

A
  • chromosome 7 maternal UPD or chromosome 11
  • sporadic 60%
  • small triangular facies
  • asymmetry of skeleton
  • 5th finger clinodactyly
  • CALMs
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45
Q

VACTERL

A
  • sporadic
  • a/w IDM
  • Vertebral
  • Anorectal malformation
  • Cardiac
  • TEF
  • Renal
  • Limb
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46
Q

Syndromes with: coloboma

A

Goldenhar (upper eyelid)
CHARGE (retinal)
Teacher Collins (lower eyelid)
Cat eye (iris)
Trisomy 13
Trisomy 8
13q deletion

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47
Q

Epinephrine mechanism of action

A
  • non-selective alpha (1 & 2) + beta (1 & 2) agonist
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48
Q

Dopamine mechanism of action

A
  • dopamine, alpha & beta receptors
  • can deplete norepi stores with prolonged use
  • decreased thyrotropin, prolactin & thyroxine
  • can increase PVR
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49
Q

fetal energy requirement/expenditure

A

35-55 kcal/kg/day

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50
Q

Placental transport: simple diffusion

A
  • water
  • Na, Cl
  • O2, CO2
  • lipids
  • lipid soluble vitamins
  • most medications
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51
Q

Placental transport: facilitated diffusion

A
  • glucose
  • cephalexin
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52
Q

Placental transport: active transport

A
  • amino acids
  • Mg, Phos, Ca
  • iron, iodide
  • water soluble vitamins
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53
Q

Placental Transport: Bulk Flow

A
  • water
  • dissolved electrolytes
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54
Q

Placental Transport: pinocytosis

A
  • most proteins, immunoglobulins
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55
Q

Essential amino acids

A
  • valine, leucine, isoleucine (BCAA)
  • histidine
  • lysine
  • methionine
  • phenylalanine
  • threonine
  • tryptophan
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55
Q

Conditionally essential amino acids

A

arginine
cysteine
glutamine
glycine
proline
tyrosine
taurine

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56
Q

Glucose precursor amino acids

A

glutamate
aspartate
alanine

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57
Q

Most prevalent fatty acids found in human milk

A

oleic, followed by palmitic

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58
Q

length of SCFA

A

less than 6 carbon length

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59
Q

length of MCFA

A

6-12 carbon length

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60
Q

length of LCFA

A

> 12 to 20 carbon length

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61
Q

length of VLCFA

A

> /= 22 carbon length

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61
Q

symptoms of essential FA deficiency

A

dermatitis
thrombocytopenia
susceptibility to infection
alopecia
FTT

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62
Q

glucose to protein ratio for positive nitrogen balance

A

6g glucose: 1g protein

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63
Q

maternal medications that decrease neonatal vitamin K levels

A

anticonvulsants
warfarin
anti-TB meds

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63
Q

symptoms of Vitamin A deficiency

A

?chronic lung disease (pulm epithelium & cell differentiation)
photophobia + conjunctivitis
abnormal bones & teeth
generalized scaling
FTT

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64
Q

symptoms of Vitamin B1 (thiamine) deficiency

A

BeriBeri (fatigue, irritable, constipation, CHF)
a/w pyruvate dehydrogenase def & MSUD

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65
Q

Symptoms of riboflavin (B2) deficiency

A

FTT
blurred vision/photophobia
dermatitis
mucositis
a/w glutaric aciduria type 1

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66
Q

Symptoms of pyridoxine (B6) deficiency

A

dermatitis/mucositis
seizures
hypochromic anemia
a/w homocystinurina

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67
Q

Symptoms of biotin deficiency

A

alopecia
dermatitis (scaling, seborrhea)
a/w biotinidase deficiency, B-methylcrotonyl glycinurina, propionic acidemia, PDH def

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68
Q

Symptoms of vitamin C deficiency

A

poor wound healing
bleeding gums
a/w transient tyrosinemia

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69
Q

Symptoms of vitamin D deficiency

A

rickets
FTT
possible tetany

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70
Q

function of chromium

A

regulates glucose levels (insulin metabolism)

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71
Q

function of copper

A

RBC production/hgb formation
iron absorption
multiple enzyme function

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72
Q

function of manganese

A

enzyme activation (superoxide dysmutase)
bone construction
CHO metabolism

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73
Q

function of iron

A

hgb/myoglobin synthesis
absorbed in duodenum/proximal jejunum
enhanced absorption w/ vitamin C

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74
Q

function of Zinc

A

enzyme function (CA, carboxypeptidase)
growth

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75
Q

Symptoms of copper deficiency

A

anemia, neutropenia
osteoporosis
depigmentation hair/skin
FTT
hypotonia
ataxia

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76
Q

Symptoms of zinc deficiency

A
  • acrodermatitis enteropathica (AR form)
  • FTT, alopecia, diarrhea, periorificial derm
    -nail hypoplasia
  • staph aureus or Candida infection
    -alk phos is a Zinc dependent enzyme
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77
Q

trace element adjustments for PN cholestasis

A

reduce manganese & copper
increase zinc

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78
Q

trace element adjustments for renal insufficiency

A

reduce chromium & selenium

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79
Q

whey: casein ratio PTF

A

60:40

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80
Q

nitrogen balance formula

A

nitrogen intake = 0.16 x g/day protein

nitrogen loss = urinary urea + estimated stool loss (~4g)

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81
Q

whey: casein ratio colostrum

A

80:20

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82
Q

Disorders associated with nephrocalcinosis

A
  • Bartter’s Syndrome
  • Williams Syndrome
  • Type 1 RTA
  • primary hyperparathyroidism
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83
Q

whey: casein ratio mature breastmilk

A

55:45

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84
Q

Glycogen Storage Disease Type 1

A

Von Gierke’s

glucose-6-phosphatase deficiency
affects mostly LIVER
lactic acidosis
hepatic tumors
hematomas in childhood

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85
Q

Glycogen Storage Disease Type 3

A

Forbes’

debranching enzyme deficiency
affects mostly LIVER and MUSCLE
muscle fatigue
no neonatal symptoms
good prognosis

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86
Q

Glycogen Storage Disease Type 4

A

Andersen’s

branching enzyme deficiency
affects mostly LIVER and NERVES
muscle weakness
cirrhosis in infancy
no neonatal symptoms
poor prognosis - liver failure

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87
Q

Glycogen Storage Disease Type 2

A

Pompe’s

lysosomal α glucosidase deficiency
affects mostly MUSCLE
heart failure
poor prognosis

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88
Q

Glycogen Storage Disease Type 5

A

McArdle’s

Muscle phosphorylase deficiency
affects mostly MUSCLE
muscle fatigue in adolescence
good prognosis

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89
Q

Glycogen Storage Disease Type 6

A

Hers’

Liver phosphorylase deficiency
affects mostly LIVER
no neonatal symptoms
hypoglycemia is mild
good prognosis

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90
Q

Glycogen Storage Disease Type 7

A

Tarui’s

muscle phosphofructokinase deficiency
affects mostly MUSCLE
similar to type 5
muscle fatigue adolescence
good prognosis

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91
Q

only glycogen storage disease with lactic acidosis

A

type 1 von Gierke’s

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92
Q

Glycogen Storage Disease Type 8

A

phosphorylase kinase deficiency
affects mostly LIVER
similar to type 3 without myopathy
no neonatal symptoms
good prognosis

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93
Q

Pyruvate dehydrogenase deficiency inheritance pattern

A

mitochondrial

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94
Q

glycogen storage diseases that present in neonatal period

A

type 1 (von Gierke’s) & type 2 (Pompe)

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95
Q

key difference between Tay Sachs and NPD

A

NO hepatosplenomegaly in Tay Sachs

(both have cherry red spot & neurological symptoms)

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96
Q

alpha-1 receptor locations and functions

A

artery & vein smooth muscle
cardiac myocytes

Functions:
smooth muscle contraction (vasoconstrict)
increase contractility
gluconeogenesis
decreased insulin release

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97
Q

differentiating between transient tyrosinemia of the newborn and tyrosinemia

A

tyrosinemia will have elevated urine and serum succinylacetone and +urine reducing substances

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97
Q

β1 receptor locations and functions

A

SA node
atrial and ventricular muscle
conduction cells (purkinje, SA, AV nodes)

Functions:
increased HR
increased conduction velocity
increased contractility
renin secretion

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98
Q

alpha-2 receptor locations and functions

A

CNS
sympathetic nerves

Functions:
block NE release
inhibit sympathetic output
vascular smooth muscle relaxation

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99
Q

β2 receptor locations & functions

A

artery & vein smooth muscle
bronchial smooth muscle

Functions:
smooth muscle relaxation (vasodilate)
bronchial relaxation
increase HR and contractility
glycogenolysis
insulin secretion
decreased intestinal motility

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100
Q

Cardiac lesion in Ellis van Creveld Syndrome

A

common atrium

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101
Q

Cardiac lesion in Klinefelter Syndrome

A

ToF, MV prolapse

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102
Q

Cardiac lesions associated with DiGeorge Syndrome

A

aortic arch abnormalities, truncus

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103
Q

Cyanotic heart lesions WITHOUT a murmur

A

HLHS
TAPVR
TGA with VSD

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104
Q

Cardiac lesion in gestational diabetes

A

HCM
d-TGA

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105
Q

Rhizomelic Chrondrodysplasia

A

Zellweger Spectrum
PEX7 gene
AR
presents like skeletal dysplasia
bony stippling
associated with NORMAL vlcfa levels (different than other peroxisomal d/o’s)

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106
Q

PHACE syndrome

A

Posterior fossa lesions
Hemangiomas
Arterial (cerebrovascular) anomalies
Cardiac lesions
Eye abnormalities

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107
Q

Alveolar minute ventilation

A

= (Vt - Vdead space) x RR

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107
Q

Altitude effect on PaO2

A

= (Patm1 - pH2O) x FiO2 = (Patm2-pH2O) x FiO2

Patm = 760mmHg at sea level
pH2O = 47mm Hg

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108
Q

Alveolar-arterial oxygen gradient

A

= pAO2 - paO2
= FiO2(Patm - pH2O) - (paCO2/R) - paO2

R usually = 0.8
FiO2 decimal form

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109
Q

Alveolar gas equation

A

= FiO2 (Patm - pH2O) - (paCO2/R)

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110
Q

Cardiac Output

A

= heart rate x stroke volume
= systemic BP/ total peripheral vascular resistance

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111
Q

Cerebral blood flow

A

= cerebral perfusion pressure/cerebral vascular resistance

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111
Q

Cerebral perfusion pressure

A

= mean arterial pressure - intracranial pressure

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112
Q

Compliance

A

= change in volume (mL) / change in pressure (cm H2O)

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113
Q

Anion gap

A

= Na+ - (Cl- + HCO3-)

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114
Q

Elastance

A

= change in pressure (cm H2O) / change in volume (mL)

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115
Q

Dead space, physiologic
(Bohr equation)

A

= [(arterial CO2 - expired CO2) / arterial CO2] x Vt

Physiologic dead space is also = anatomic dead space + alveolar dead space

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116
Q

GFR

A

= 0.45 x height (cm)/ plasma Cr

use 0.33 constant for preterm infants

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116
Q

FENA %

A

= urine Na x plasma Cr / urine Cr x plasma Na

<1% normal
1-2.5% pre-renal
>3% intrinsic renal

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117
Q

Hardy Weinberg equilibrium

A

p + q = 1
p2 + 2pq + q2 = 1

p = frequency dominant allele
q = frequency recessive allele

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117
Q

Henderson-Hasselbach Equation

A

H+ = (24 x pCO2)/HCO3-

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118
Q

Mean airway pressure formula

A

= K(Pip - Peep) x [(iT/(iT + eT)] + Peep

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119
Q

distending pressure (LaPlace’s Law)

A

2T/r

T = surface tension
R = radius

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119
Q

Minute ventilation

A

Vt x RR

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120
Q

Oxygen consuption (Fick principle)

A

= CO x (aterial O2 content - venous O2 content)

= CO x (1.34 x Hgb) x (SpO2 aterial - SpO2 venous)

O2 sat decimal form

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121
Q

Oxygen delivery

A

= CO x O2 content

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122
Q

Oxygenation Index

A

= [(MAP x FiO2)/ postductal PaO2] x100

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123
Q

O2 content of blood

A

= (1.34 x Hgb x SpO2) + (0.003 x PaO2)

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123
Q

Plasma osmolality

A

2Na + glu/18 + BUN/2.8

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124
Q

Poiseuille’s Law (laminar flow)

A

= (pi x r4 x change in pressure) / 8 x length x viscosity

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125
Q

Ponderal Index

A

(weight(g) / CRL3) x 100

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126
Q

Qp/Qs

A

= (Spo2 Ao - SpO2 mixed venous) / SpO2 LA or PV - SpO2 PA)

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127
Q

Pulmonary vascular resistance

A

= (mean pulm art pressure - mean left atrial pressure) / pulmonary blood flow

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128
Q

Renal clearance

A

= (U x V) / P

U = urinary solute concentration (mg/dL)
V = urinary volume over time collected (mL/min)
P = plasma solute concentration (mg/dL)

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129
Q

Resistance

A

= change in pressure/ change in flow

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130
Q

Saturation level for cyanosis

A

= hgbO2 / (reduced hgb + hgbO2)

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131
Q

Intrapulmonary Shunt Equation

A

= (O2 content pulm cap - O2 content syst art) / (O2 content pulm cap - O2 content mixed venous)

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132
Q

Systemic vascular resistance

A

= (mean Ao pressure - mean RA pressure) / systemic blood flow

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133
Q

Na deficit

A

= (Na+ desired - Na+ current) x 0.6 x wt(kg)

0.6 = volume of distribution

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134
Q

Time constant

A

= resistance (cm H20/mL/s) x compliance (ml/cm H20)

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135
Q

Drug clearance

A

= elimination rate constant (Kel) x volume of distribution (Vd)

= (dose/interval) / average steady-state concentration

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136
Q

Elimination half life

A

= (0.693 x Vd) / clearance of drug

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137
Q

Elimination rate constant

A

= clearance of drug/Vd

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138
Q

Loading dose

A

(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

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139
Q

Steady state concentration

A

= infusion rate/ clearance

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140
Q

Volume of Distribution

A

= 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

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141
Q

Attributable Risk (aka “Risk Difference”

A

= [a / (a + b)] - [c / (c+d)]

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142
Q

Attributable risk %

A

= AR / [a/(a+b)] x 100

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143
Q

False-negative

A

= 1 - sensitivity

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144
Q

False-positive

A

= 1- specificity

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145
Q

Incidence, cumulative

A

= # new cases in a given time period / total population at risk

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146
Q

Incidence, rate

A

= # new cases in a given time period/ person-time years of observation

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147
Q

Likelihood ratio (LR)

A

LR + = sensitivity/(1-specificity)

LR - = (1-sensitivity)/specificity

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148
Q

Mean

A

= sum of observations/#observations

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149
Q

Mortality rate, b.w. specific

A

= [deaths in specific b.w. category / # births in specific b.w. category] x 1000

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150
Q

Mortality rate, fetal

A

= [fetal deaths / (live births + fetal deaths)] x 1000

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151
Q

Mortality rate, infant

A

= (infant deaths (</= 1yr) / live births) x 1000

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152
Q

Mortality rate, neonatal

A

= [neonatal deaths <28d / live births] x 1000

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153
Q

Mortality rate, perinatal

A

= [(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

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154
Q

Mortality rate, postneonatal

A

= [postneonatal deaths (28d to 364d) / live births] x 1000

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155
Q

Negative predictive value (NPV)

A

= d/ (c+d) = TN / ( FN + TN)

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156
Q

Number Needed to Treat (NNT)

A

1 / (A-B)

A= events in control/nonexposed
B = events in treated/exposed

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157
Q

Odds ratio (aka “cross product ratio)

A

(a x d) / (b x c)

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158
Q

Positive Predictive Value (PPV)

A

= a / (a+B) = TP / (TP + FP)

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159
Q

Power

A

= 1 - type 2 error

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160
Q

Prevalence

A

= [# cases at point in time / total population at risk] x 100%

= (TP + FN) / (TP + FN + FP + TN)

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161
Q

Relative Risk (or “risk ratio”)

A

= [a / (a + b)] / [c / (c+d)]
= AR in exposed/AR in nonexposed

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162
Q

Sensitivity

A

= a / (a+c)
= TP / (TP+FN)

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163
Q

Specificity

A

= d / (d+b) = TN / (FP + TN)

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164
Q

Standard Deviation

A

= square root of the variance

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165
Q

Standard error of the mean

A

= SD/ square root of n

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166
Q

most common genetic mutation in long QT syndrome

A

KCNQ1

affects potassium channel encoded by this gene

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167
Q

functional vs. fractional O2 saturation

A

functional measures oxygenated Hgb and reduced Hgb only
fractional measures above + carboxy and met Hgb

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168
Q

typical course of HCM associated with DM in pregnancy

A

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

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169
Q

most common cause of HCM in children younger than 4yrs

A

Noonan’s Syndrome

*Medical therapy does NOT affect prognosis, just used for symptoms (usually propranolol)

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170
Q

genes associated with HLHS

A

NOTCH1
NKX2-5
GJA1
HAND1

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171
Q

recurrence risk HLHS sibling

A

8% for HLHS
22% for any CHD

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172
Q

age at which optic nerve myelination is complete

A

2 years

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173
Q

age at which vertical conjugate gaze develops

A

2 months

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174
Q

age at which visual following is well developed

A

3 months

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175
Q

gestational age at which eyes close in response to light

A

30 weeks

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176
Q

gestational age at which pupillary light reflex appears

A

32 weeks (may be observed at 30 weeks, fully developed by 1mo of age)

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177
Q

age at which visual evoked potential reaches adult levels

A

6 months

(VEP = cortical brain response to visual stimulus/input, i.e. visual pathway)

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178
Q

most common cause of leukocoria

A

cataracts

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179
Q

types of OI with blue sclera

A

1 & 2

3 initially with blue sclera during infancy that normalize later
(4 with NORMAL sclera)

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180
Q

Syndromes associated with IRIS coloboma

A

cat eye syndrome
Trisomy 8

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181
Q

type of coloboma in CHARGE syndrome

A

usually retinal

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182
Q

stage of ROP at which retinal vessels start to enter the vitreous space

A

Stage 3 (ridge with extraretinal neovascularization)

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183
Q

definition of threshold disease ROP

A

Stage 3 with Plus disease zone 1 or 2
AND 5 contiguous or 8 total clock hours

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184
Q

Risk of progression to stage 5 ROP if have threshold ROP

A

50%

(treatment reduces this to 25%)

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185
Q

Definition of prethreshold ROP type 1

A

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

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186
Q

Definition of prethreshold ROP type 2

A

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

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187
Q

ROP Zone that anti-VEGF can be used

A

Zone 1

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188
Q

Infectious conditions associated with congenital cataracts

A

syphilis
Varicella
CMV
rubella
toxoplasmosis

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189
Q

Metabolic conditions associated with congenital cataracts

A

galactosemia
galactokinase deficiency
mevalonic aciduria
Hurler’s
hypocalcemia
vitamin A or D deficiency

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190
Q

Genetic conditions associated with congenital cataracts

A

Smith Lemli Opitz
WAGR
Stickler
Trisomy 21
Lowe’s (oculocerebrorenal) syndrome

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191
Q

typical inheritance pattern of congenital glaucoma

A

autosomal recessive

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192
Q

Conditions associated with secondary glaucoma (presentation after neonatal period)

A

homocystinuria
congenital rubella syndrome
ROP
Sturge Weber
Stickler

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193
Q

Ear abnormality associated with maternal isotretinoin use

A

microtia

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194
Q

most common type of congenital nasal mass

A

dermoid

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195
Q

nasal abnormality associated with holoprosencephaly

A

nasal pyriform aperture stenosis

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196
Q

pre-test odds equation

A

pre-test odds = pre-test probability / (1-pretest probability)

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197
Q

post-test odds

A

pre-test odds x LR

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198
Q

post-test probability

A

post-test odds/ (post-test odds +1)

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199
Q

Pulmonary developmental abnormalities: embryonic stage

A

larygneal cleft
tracheal stenosis
TEF
bronchogenic cyst

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200
Q

Pulmonary developmental abnormalities: pseudoglandular stage

A

branching abnormalities of lung
CDH
CLE
CPAM
pulmonary lymphangiectasia

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201
Q

Pulmonary developmental abnormalities: cannalicular stage

A

pulmonary hypoplasia
surfactant deficiency
alveolar capillary dysplasia

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202
Q

Pulmonary developmental abnormalities: saccular stage

A

pulmonary hypoplasia
surfactant deficiency

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203
Q

Pulmonary developmental abnormalities: alveolar stage

A

pulmonary hypoplasia
surfactant deficiency
congenital lobar emphysema

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204
Q

mechanism of action Precedex

A

highly selective alpha-2 agonist
results in increased GABA activity (inhibitory)

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204
Q

Stage 1 AKI

A

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

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205
Q

Stage 2 AKI

A

Serum Cr rise >/= 2-2.9x baseline
UOP <0.5ml/kg/hr x12 hours

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206
Q

Stage 3 AKI

A

Serum Cr rise >/= 3x baseline OR vlue >/= 2.5 OR dialysis

UOP <0.3ml/kg/hr x24 hours or ANURIA x12hrs

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207
Q

site of action for nondepolarizing neuromuscular blockers

A

POST-synaptic nicotinic receptor blockers

(e.g. vec, roc)

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208
Q
A
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209
Q

chromosome &
gene involved in myotonic dystrophy

A

DMPK gene
chromosome 19

CTG repeats
>50 mild
>100 classic
>1000 congenital severe form

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210
Q

Aicardi Syndrome

A

absent corpus callosum
infantile spasms (seizures)
chorioretinal lacunae

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211
Q

Nemaline myopathy

A

“rod-like bodies through muscle fibers on Gomori trichrome staining”
arthrogryposis multiplex congenita
dilated cardiomyopathy

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212
Q

Symptoms of congenital disorder of glycosylation

A

microcephaly & atrophy on brain MRI
hypotonia
strabismus
abnormal fat distribution
inverted nipples

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213
Q

NIDCAP

A

implemented from birth
recs AFTER discuss w/ parents & team
ongoing adjustment based on response
DOES have a certification process

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214
Q

Riley Day Syndrome

A

familial dysautonomia
Ashkenazi Jewish population
jerky limb movements
decreased/absent reflexes

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215
Q

Syndromes most commonly associated with agenesis of corpus callosum

A

Aicardi
Zellweger

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216
Q

definition of colpocephaly

A

enlargement occipital horns lateral ventricles

*usually associated with ACC

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217
Q

biomarker profile of infant with moderate or severe HIE

A

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

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218
Q

Erb’s Palsy level of injury & presentation

A

C5-C6
most common brachial plexus injury
shoulder adducted, elbow extended, forearm pronated, wrist flexed

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219
Q

Klumpke paralysis level of injury & presentation

A

C8-T1
“claw hand”

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220
Q

Associated finding with total brachial plexus paralysis

A

Horner’s syndrome - check eyes!
involves C5-T1

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220
Q

Palmar reflex appearance, establishment & disappearance

A

26 weeks –> 32 weeks established
gone by 2-4 months

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221
Q

Plantar reflex appearance, establishment & disappearance

A

26 weeks –> 32 weeks established
gone by 9-12 months

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222
Q

Sucking reflex appearance, establishment & disappearance

A

28 weeks –> 32-34 weeks established
gone by 12 months

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223
Q

Crossed extensor reflex appearance, establishment & disappearance

A

30 weeks –> 34 weeks established
gone by 2 months

224
Q

Rooting reflex appearance, establishment & disappearance

A

30 weeks –> 34 weeks established
gone by 4 months

225
Q

Moro reflex appearance, establishment & disappearance

A

30-34 weeks –> 38 weeks established
gone by 2-4 months

226
Q

Tonic neck reflex appearance, establishment & disappearance

A

35 weeks –> 2mo established
gone by 6 months

227
Q

Stepping reflex appearance, establishment & disappearance

A

35-37 weeks –> term established
gone by 2-3 months

228
Q

phenobarbital mechanism of action

A

increases time Cl- channels are open
acts on GABA-A receptor

229
Q

phenytoin mechanism of action

A

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
Q

levatiracetam mechanism of action

A

decrease synaptic vesicle release
acts on protein SV2A

231
Q

benzodiazepine mechanism of action

A

increase GABA activity

232
Q

lidocaine mechanism of action

A

sodium channel blocker

233
Q

topiramate mechanism of action

A

blocks sodium channels = enhance GABA-activated chloride channel
inhibit excitatory neurotransmission

234
Q

primary neurulation timing and associated disorders

A

1st month (3-4 wks)

anecephaly
encephalocele
MMC
Arnold Chiari

235
Q

secondary neurulation timing and associated disorders

A

2nd month (4-7 wks)

lower spinal cord abnormalities
tethered cord
teratoma/lipoma
myelocystocele

236
Q

prosencephalic development timing & associated disorders

A

2-3 months

aprosencephaly
holoprosencephaly
SOD, ACC, ASP

237
Q

neural & glial proliferation timing & associated disorders

A

3-4 months

micrencephaly or macrencephaly

238
Q

neuronal migration timing & associated disorders

A

3-5 months

lissencephaly
schizencephaly
pachygyria
polymicrogyria

239
Q

neuronal organization timing & associated disorders

A

3 months to years after birth ( axonal proliferation > dendrites & synapses > synaptic rearrangement)

genetic d/o & prematurity

240
Q

myelination timing & associated disorders

A

birth to years
corticospinal tract up to 2 yrs
association bundle not until 32yrs!

cerebral WM hypoplasia
prematurity
malnutrition

241
Q

Sturge Weber Syndrome

A

unknown/sporadic genetics
PWS V1
ipsilat “tramline” cortical calcifications
glaucoma (30%)
seizures
contralateral hemiparesis

242
Q

tuberous sclerosis

A

AD, chromosome 9 & 16
ash leaf macules (Wood’s lamp)
CNS tumors
cardiac rhabdomyoma
tooth enamel pits
seizures

243
Q

Neurofibromatosis

A

AD, chromosome 17
CALMs that do not cross midline
axillary freckling
neurofibromas, schwannoma, pheo
seizures, ID

244
Q

McCune Albright

A

sporadic
irregular brown pigmentations
polyostotic fibrous dysplasia
precocious puberty
hyperthyroid
hyperparathyroid
pituitary adenoma

245
Q

mechanism of action glucocorticoids in CLD

A

annexin A1 synthesis –> decreases phospholipid A2 –> reduces inflammatory mediators (TXA, prostaglandin, prostacyclin, leukotriene)

246
Q

mevalonic aciduria presentation & inheritance

A

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
Q

most common HNA ab’s that cause alloimmune neonatal neutropenia

A

HNA-1a
HNA-1b
HNA-2a

248
Q

osteomyelitis

A

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
Q

EARLY congenital syphilis symptoms

A

before 2yo
LARGE placenta
“snuffles” + pneumonitis
hepatosplenomegaly
rash

250
Q

LATE congenital syphilis symptoms

A

if congenital not treated
frontal bossing
saddle nose
saber shins
hutchinson teeth/triad (+keratitis & 8th nerve deafness)

251
Q

age at development of red reflex

A

28 weeks gestation

252
Q

age at development of pupillary light reflex

A

~32 weeks

253
Q

age at development of horizontal conjugate gaze

A

term

254
Q

age at development of vertical conjugate gaze

A

2 months old

255
Q

nonparametric correlate to Pearson’s R

A

Spearman’s Rho

256
Q

nonparametric correlate to t-test

A

Mann Whitney

257
Q

nonparametric correlate to PAIRED t-test

A

Wilcoxon

258
Q

cohort study

A

good for rare EXPOSURE
not good for rare disease
CAN calculate incidence

259
Q

case control

A

good for rare DISEASE
not good for rare exposure
CANNOT calculate incidence

260
Q

do NOT cross placenta

A

TSH
IgM
biliverdin
insulin
heparin
glucagon
human GH
PTU

261
Q

location of bleeding in placental abruption

A

decidua basalis

262
Q

cytochrome P450 inducers

A

dexamethasone
phenobarbital
phenytoin
rifampin

263
Q

cytochrome P450 inhibitors

A

erythromycin
fluconazole
indomethacin
methadone
omeprazole
ranitidine
Cimetidine
Chloramphenicol

264
Q

lab values pattern in urea cycle defects

A

hyperammonemia WITHOUT acidosis OR ketosis

265
Q

lab values pattern in organic acidemias

A

hyperammonia with acidosis & ketosis

266
Q

lab values pattern in pyruvate dehydrogenase complex deficiencies

A

severe lactic acidosis

267
Q

indication for c-section in maternal HIV+

A

if viral load is >1000

268
Q

“male cat urine odor”

A

3-methylcrotonyl glycinuria
multiple carboxylase deficiency

269
Q

endocrine disturbance associated with hepatic hemangiomas

A

hypothyroidism
*due to increased type 3 iodothyronine deiodinase in the hemangioma itself

270
Q

chromosome alpha globin genes are located on

A

chromosome 16

271
Q

chromosome beta globin genes are located on

A

chromosome 11

272
Q

syndromes associated with triphalangeal thumb

A

Holt Oram
Diamond Blackfan
Fanconi Anemia

273
Q

Diamond Blackfan Syndrome

A

pure red cell aplasia
cardiac & renal
40% with anomalies other than heme
triphalageal thumb
increased risk:
- aplastic anemia
- MDS
- acute leukemia

274
Q

Fanconi Anemia

A

increased chromosomal breaks
marrow hypoplasia
triphalangeal thumb (or hypoplastic)
hyperpigmentation
radial hypoplasia
renal
neurodevelopmental
increased risk AML, lymphoma

275
Q

causes of microcytic anemia

A

iron deficiency
thalassemia
lead poisoning

276
Q

causes of normocytic anemia with LOW retic count

A

parvo B19
transient erythroblastopenia childhood
chronic disease
drugs
leukemia

277
Q

causes of macrocytic anemia

A

B12 or folate deficiency
methylmalonic aciduria
acquired aplastic anemia (can also be normocytic)
Diamond Blackfan
Fanconi
hypothyroidism (can also be normocytic)
Down Syndrome

278
Q

ectopic atrial tachycardia

A

1 or 2 non-SA atrial foci
if not tachycardic = “ectopic atrial rhythm”
can present w/ dilated CM in older child

279
Q

I2 statistic

A

% 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

Q statistic

A

how much a given study’s effect deviates from the overall pooled effect

281
Q

enzyme defect in albinism

A

tyrosinase

282
Q

xeroderma pigmentosum

A

decreased ability of DNA repair (low endonuclease levels)
sun sensitivity (UV rays)
can have progressive neurologic deterioration

283
Q

L.E.O.P.A.R.D. syndrome

A

Lentigines
Ecg changes
Ocular htn
Pulmonary stenosis
Abnormal genitalia
Restricted growth
Deafness

284
Q

Peutz Jeghers syndrome

A

mucocutaneous hyperpigmentation
GI polyps (risk intussusception)

285
Q

maternal medications associated with nail hypoplasia

A

warfarin
hydantoins
carbemazepine

286
Q

differentiating factor epidermolysis bullosa vs. bullous ichthyosis

A

bullous ichthyosis will have hyperkeratosis (intertriginous areas)

287
Q

X-linked ichthyosis

A

steroid sulfatase deficiency
brown scales - NOT on palms/soles
no flexure involvement
corneal opacities
cryptorchidism in males

288
Q

disorders that can present as colloidon infant

A

congenital ichthyosiform erythroderma

lamellar ichthyosis

netherton’s disease

ectodermal dysplasia

289
Q

genes involved in Cornelia de Lange

A

NIPBL (80%)
SMC1A
SMC3
HDAC8
RAD21

290
Q

trace element associated with renal complications

A

chromium

291
Q

trace element associated with CNS complications

A

manganese

292
Q

trace element associated with hepatic complications

A

copper

293
Q

disorders associated with abnormal neutrophil function

A

hyperimmunoglobulin E
leukocyte adhesion deficiency
myeloperoxidase deficiency
Chediak Higashi
Chronic Granulomatous Disease

294
Q

disorders of abnormal neutrophil production

A

Shwachman Diamond
Kostmann
Reticular dysgenesis (deafness + lymphopenia)

295
Q

fetal growth rate 3rd trimester

A

~20g/kg/day

296
Q

fetal energy requirement

A

35-55kcal/kg/day

297
Q

donor milk components eliminated by pasteurization

A

bacterial pathogens
viral pathogens
lipoprotein lipase
bile salt activated lipase
IgM?

298
Q

donor milk components reduced by pasteurization

A

IgA
IgG
IgM?
lipid
lactoferrin
lysozyme

299
Q

donor milk components unaffected by pasteurization

A

linoleic acid
fatty acids
monosaccharides
oligosaccharides
total protein content
total lactose content

300
Q

nutrients absorbed in duodenum

A

iron
selenium

calcium
magnesium
phosphorus

fatty acids
carbohydrates
amino acids

fat soluble vitamins

301
Q

nutrients absorbed in jejunum-ileum

A

water soluble vitamins
some Na, Cl, K & water

302
Q

nutrients absorbed in colon

A

SCFA
vitamin K
majority Na, Cl, K & water

303
Q

nutrients absorbed in terminal ileum

A

B12
bile salts
Zinc

304
Q

most prevalent fatty acids in human milk

A

oleic followed by palmitic

305
Q

what is the Holman index and what does it signify

A

triene: tetraene ratio
(# of double bonds)
typically refers to mead acid: AA ratio

> 0.2 is significant

marker of essential FA deficiency

306
Q

protein content term vs. preterm formulas

A

higher protein content AND whey:casein ratio in PTF

307
Q

iron content term vs. preterm formulas

A

LOWER iron content in PTF

308
Q

lactose content term vs. preterm formula

A

LOWER lactose content in PTF

309
Q

Sodium content term vs. preterm formula

A

higher Na content in PTF

310
Q

electrolyte content cow’s milk vs breastmilk

A

lower Na, Cl, K, Ca, Phos, Mg in breast milk

311
Q

amino acid content cow’s milk vs. breastmilk

A

most AA’s are lower in breastmilk

312
Q

changes in protein content of breastmilk over time

A

protein content decreases as milk matures

313
Q

VLCFA content cow’s milk vs. breastmilk

A

higher VLCFA in breastmilk (but also contains BSSL to help with absorption)

314
Q

fat/lipid changes in breastmilk over time

A

decreasing cholesterol & phospholipids with time

colostrum higher in TGs (vs. cholesterol & PLs)

cholesterol does NOT vary with maternal diet

315
Q

fat content cow’s milk vs breastmilk

A

higher cholesterol breast milk (very minimal in formulas)

316
Q

specific type of sugar that can help reduce retinal injury and may enhance surfactant production

A

inositol
(higher in BM vs. formula)

317
Q

two drugs that can cause nephrogenic DI

A

lithium
ampho B

318
Q

change in K+ for change in pH

A

0.1 decrease pH = 0.6 increase K+

319
Q

AT 2 effects

A

Na/H20 reabsorption (direct tubular effect)
arteriolar vasoconstriction
aldosterone secretion
ADH secretion
activate Vit D via PTH
activate epo

320
Q

conditions/exposures that decrease ADH effect

A

hypercalcemia
PGE2 administration
Bartter’s Syndrome
proximal RTA

321
Q

conditions associated with Fanconi syndrome

A

proximal tubule dysfunction –> excess urine loss AA, glu, phos, HCO3

cystinosis
tyrosinemia
fructose intolerance
galactosemia
Lowe Syndrome (oculocerebrorenal)

322
Q

disorders associated with nephrocalcinosis

A

Williams
RTA type 1
Bartter’s
primary hyperparathyroidism

323
Q

copper requirement preterm infants

A

120mcg/kg/day

324
Q

zinc requirements preterm infants

A

350mcg/kg/day

325
Q

what increases and decreases intestinal zinc absorption?

A

increases: AA’s, protein
decreases: calcium, iron, magnesium, soy milk (contain phytates that decrease absorption)

326
Q

lab findings osteopenia of prematurity/metabolic bone disease

A

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
Q

PN osmolarity equation

A

(AA x 8) + (glu x7) + (Na x2) + (Ph x 0.2) - 50

AA & glu = g/L
Na= meq/L
Phos = mg/L

328
Q

things that impair copper absorption

A

ascorbic acid
iron
zinc
glucocorticoid treatment

329
Q

significance of urinary fatty acid binding protein

A

I-FABP - increased levels in NEC

330
Q

amino acid produced almost exclusively by enterocytes

A

citrulline - can be a prognostic marker in short gut syndrome

331
Q

earliest emergence of sucking and swallowing ability

A

16 weeks (not coordinated)

332
Q

GA at which normal gastric emptying can be expected

A

32 weeks (also when stomach acid is detected)

333
Q

timing of obliteration and recanalization of intestinal lumen

A

obliterated - 6 weeks
recanalized - 8 weeks

334
Q

number of degrees, direction and anchor point around which midgut (small intestine portion) rotation occurs

A

270 degrees, COUNTERclockwise, around superior mesenteric artery

*colon rotates another 180 degrees before returning to abdominal cavity, then fixation occurs

335
Q

portion of small intestine from which Meckel’s diverticulum occurs

A

ileum

336
Q

is the anal canal derived from endoderm or ectoderm

A

upper 2/3’s is endoderm (hindgut)
lower 1/3 is ectoderm

“pectinate” line separates the two

337
Q

timing of neural crest cell migration to create enteric innervation

A

5-12 weeks

338
Q

most common gene associated with Hirschsprung’s Disease

A

Ret (70% of cases)

30% of HD has associated anomalies

339
Q

apical membrane receptor for glucose & galactose transport in intestine

A

SGLT-1

*Na-K pump on basal membrane facilitates this

340
Q

apical membrane receptor for fructose transport in intestine

A

GLUT5

341
Q

basal membrane transporter for glucose, galactose & fructose

A

GLUT2

342
Q

reason for lower protein digestive capability in neonates

A

increased gastric pH –> decreased pepsinogen to pepsin conversion

lower chymotrypsin and trypsin in duodenum

343
Q

mechanisms of protein absorption

A

Na/amino acid co-transporter
H+/peptide co-transporter
facilitated carrier for AA absorption

*aided by Na-K ATPase pump

344
Q

when are pancreatic lipase levels comparable to adult levels

A

~6+ months postnatal age

345
Q

specific anatomical findings in malrotation

A

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
Q

associations with Hirschsprung’s Disease

A

T21
heterochromia
Waardenburg Syndrome
congenital deafness
13q deletion
pheochromocytoma
neurofibromatosis
neuroblastoma
Jeune syndrome

347
Q

safe radiation threshold for pregnant women

A

<5 rad

348
Q

Optimal timing and components of quad screen

A

14-20 weeks (16 weeks optimal)

B-hcg
Inhibin A
Estriol
Serum AFP (least sensitive of the 4)

349
Q

Optimal timing and components of quad screen

A

14-20 weeks (16 weeks optimal)

B-hcg
Inhibin A
Estriol
Serum AFP (least sensitive of the 4)

350
Q

Most common reason for elevated first trimester AFP

A

Inaccurate dating/younger GA

351
Q

Physiology of late decelerations

A

Uteroplacental insufficiency -> fetal hypoxia -> chemoreceptor and alpha adrenergic response -> fetal HTN -> resultant fetal reflex bradycardia

OR

UPI -> fetal hypoxia -> myocardial depression -> bradycardia

352
Q

Incidence of transient neonatal myasthenia gravis

A

10-20% of infants of mothers with MG

disease severity is NOT correlated with maternal Ab titers

353
Q

Palpebral fissures in FAS

A

Shortened

Other features: long smooth philtrum, thin upper lip vermillion border, cns problems, cardiac issues

354
Q

Which has greater risk of fetal malformations - GDM or DM type 1/2?

A

Type 1/2

355
Q

Dominant thyroid hormone during fetal life

A

rT3 (secondary to D3 deiodinase activity that converts T4 -> rT3)

356
Q

Category 3 tracing components

A

Absent variability AND one of the following:
- recurrent late decels
- recurrent variable decels
- bradycardia

OR
Sinusoidal pattern

357
Q

body systems with best prenatal anomaly detection rate

A

CNS (88%)
urinary (84%)

GI is lower (50%) – TEF is only ~7%!

358
Q

epidemiology of single UA

A

<1% of all infants
3-4x more common in twins
a/w GI, GU and cardiac anomalies

359
Q

when is the urachus supposed to obliterate

A

20 weeks - failure to do so results in complete or partial patent urachus/cyst/diverticulum

360
Q

normal nuchal thickness

A

0.5-2mm (>3mm = 1/6 risk aneuploidy)

361
Q

use of methimazole in 1st trimester can be associated with what anomaly

A

cutis aplasia

preferred agent AFTER first trimester

362
Q

propranolol mechanism of action in hyperthyroidism

A

blocks peripheral conversion of T4 -> T3

363
Q

features of cryptorchidism

A

majority on RIGHT, 2/3 unilateral
majority inguinal

failure of testicular descent 7th month

364
Q

2 mechanisms of early hypocalcemia

A
  1. diabetes - decreased transplacental transfer
  2. pre-eclampsia - increased Mg decreases PTH release
365
Q

bicarbonate effect on calcium homeostasis

A

increases Ca binding to albumin and decreases free ionized Ca

PTH –> increased bicarbonate excretion in kidney (with compensatory increase in Cl- reabsorption)

366
Q

EKG change in hypocalcemia

A

prolonged ST segment

367
Q

electrolyte abnormality associated with Amphotericin B

A

hypomagnesemia

368
Q

alternate calculation for GIR

A

(dex % x ml/kg/day) / 144

369
Q

glucogenic only amino acids

A

Alanine*
Arginine
Asparagine
Aspartic acid
Cysteine
Glutamine*
Glycine
Histidine
Methionine
Proline
Serine
Valine

370
Q

ketogenic only amino acids

A

leucine
lysine

371
Q

glucogenic AND ketogenic

A

Phenylalanine
Isoleucine
Threonine
Tryptophan
Tyrosine

372
Q

conditions associated with brittle hair

A

aginosuccinate lyase & synthetase deficiency
Menke’s

373
Q

lab pattern in fatty acid oxidation defect

A

acidosis WITHOUT ketosis
(lactic acidosis)

374
Q

DNPH test

A

Dinitrophenylhydrazine
tests for ketoacids in MSUD, PKU, tyrosinemia, histidinemia

375
Q

ferric chloride urine test

A

tests for oxoacids in PKU (blue-green), MSUD (green-grey) and tyrosinemia (green)

376
Q

nitroprusside urine test

A

tests for sulfur-acids in homocystinuria

377
Q

long term risks of galactosemia despite treatment

A

learning disability
premature ovarian failure

378
Q

alpha-1 receptor primary effects

A
  1. smooth muscle contraction
  2. increased contractility
  3. gluconeogenesis
  4. DECREASED insulin release
379
Q

which amino acid is linked to cognitive outcomes in MSUD

A

plasma leucine concentrations

380
Q

PKU pathway

A

phenylalanine –> tyrosine –> dopamine

phe hydroxylase = PKU (low tyr)

381
Q

tyrosinemia type 1

A

fumarylacetoacetate hydrolase deficiency
–> cannot convert tyrosine to fumarate + acetoacetate

*key finding = elevated URINE succinylacetone

cognitive defects often persist despite treatment

382
Q

tyrosinemia type 2

A

defect in tyrosine degradation
“oculocutaneous” tyrosinemia

symptoms typically improve following treatment

383
Q

treatment of tyrosinemia

A

limit phe, tyr, methionine
*nitisinone (aka NTBC) - reduces toxic metabolite buildup

384
Q

treatment of TRANSIENT tyrosinemia

A

vitamin c & low protein diet
typical resolution in 4-6 weeks
normal urine succinylacetone & organic acids

385
Q

amino acid findings with B12 deficiency

A

low methionine
high homocysteine
high MMA

386
Q

non-ketotic hyperglycinemia

A

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
Q

protein disorder with +nitroprusside test

A

cystinuria

388
Q

protein disorder with BLUE-GREEN ferric chloride test

A

histidinemia

389
Q

protein disorder with GREEN-GREY ferric chloride test

A

MSUD

390
Q

neuroimaging finding with glutaric aciduria I

A

frontotemporal atrophy

391
Q

mevalonic aciduria

A

disorder of cholesterol synthesis
increased CK

392
Q

chromosome involved in transient neonatal diabetes mellitus

A

chromosome 6

393
Q

clinical features glutaric aciduria type 1

A

acute encephalopathy (typically triggered by an infection)
abnormal posturing, severe dystonia, opisthotonos & athetosis
macrocephaly (from birth)

394
Q

diagnostic yield of WGS

A

50-70%

395
Q

lab differences to distinguish mitochondrial from pyruvate metabolism disorders

A

mitochondrial = NORMAL pyruvate levels typically, with significant elevation in lactate

pyruvate metabolism d/o result in elevation of BOTH

396
Q

gene associated with campomelic dysplasia

A

SOX9

397
Q

signs of Triploidy

A

IUGR
hydrops
renal defects
multiple congenital anomalies

398
Q

false positive biotinidase deficiency is associated with which NICU interventions?

A

TPN & aminoglycoside administration

399
Q

medication that can help treat either type of DI

A

thiazide diuretics

400
Q

gestational age when EEG becomes continuous

A

~31-33 weeks

401
Q

alpha-2 receptor primary effects

A

“settling down effect”

  1. decreased NE release
  2. smooth muscle relaxation
402
Q

beta-1 receptor primary effects

A
  1. increased HR
  2. increased conduction velocity (AV node & purkinje system)
  3. increased contractility
  4. increased renin secretion
403
Q

beta-2 receptor primary effects

A
  1. vascular & bronchial smooth muscle relaxation
  2. decreased intestinal motility/tone
  3. increased HR
  4. increased contractility
  5. glycogenolysis and insulin release
404
Q

what causes the release of thermogenin and what does it do?

A

T3 (esp during surge at birth)

induces chemical thermogenesis from brown fat

405
Q

surfactant protein B

A

chromosome 2
hydroPHOBic
surfactant absorption & spreading

*though rare, most common defect is frameshift mutation in SFTPB gene (121ins2)

406
Q

surfactant protein C

A

chromosome 8
hydroPHOBic
surfactant function: absorption & spreading

407
Q

surfactant protein D

A

chromosome 10
hydroPHILic
host defense - antioxidant
surfactant reuptake & recycling

408
Q

caffeine mechanisms of action

A

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
Q

pulmonary conditions as a result of problems during the embryonic stage

A

tracheal & pulmonary agenesis
laryngeal cleft
TEF

410
Q

pulmonary conditions as a result of problems during the pseudoglandular stage

A

CDH
CCAM
CLE
bronchopulmonary sequestration

411
Q

pulmonary conditions as a result of problems during the cannalicular stage

A

pulmonary hypoplasia
ACD
surfactant deficiency

412
Q

pulmonary conditions as a result of problems during the saccular stage

A

pulmonary hypoplasia
ACD
CLE
surfactant deficiency

413
Q

pulmonary conditions as a result of problems during the alveolar stage

A

pulmonary hypoplasia
ACD
CLE
surfactant deficiency

414
Q

alveolarization is ENHANCED by:

A

vitamin A
thyroxine

415
Q

alveolarization is DELAYED by:

A

postnatal steroids
supplemental O2
nutritional deficiency
mechanical ventilation
insulin
inflammation

416
Q

Features associated with right atrial isomerization

A

asplenia
trilobed lungs bilaterally
midline liver
higher risk true malro

417
Q

left atrial isomerization

A

polysplenia
bilobed lungs bilaterally
interrupted IVC
single ventricle
lower mortality than RAI

418
Q

prenatal forces that clear FLF

A

~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
Q

intrapartum forces that clear FLF

A

~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
Q

postnatal forces that clear FLF

A

~35% cleared postnatally

  1. lung distension drives fluid out of alveolar space
  2. increased lymphatic oncotic pressure
421
Q

surfactant proteins induced by steroid administration

A

A, B & C

422
Q

surfactant protein A

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
Q

most common known genetic cause of surfactant deficiency

A

ABCA3 deficiency
- ABCA3 assists with lipid transport –> deficiency results in lack DPPC and PG
- decreased lamellar bodies

424
Q

factors that accelerate surfactant & lung maturation

A

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
Q

factors that delay surfactant & lung maturation

A

DM/insulin
Rh isoimmunization
2nd twin
male sex
c/s
prematurity

TGF-BETA
androgens

426
Q

% of infants with BPD who have PH

A

~30%

427
Q

GA at which type II pneumocytes begin producing surfactant

A

~26 weeks (saccular stage)

428
Q

at what stage do type II pneumocytes begin to differentiate and contain lamellar bodies

A

cannalicular

429
Q

Mechanisms that contribute to apnea of prematurity

A
  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
Q

GA until which hypoxic ventilatory depression persists

A

~35 weeks

431
Q

main CAP trial findings

A
  • 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
Q

adverse outcomes associated with LISA per existing trials

A

higher incidence of ROP and PDA

433
Q

which aortic arches regress

A

1, 2 & 5 (“don’t stay alive”)

1 –> maxillary artery remains
2 –> stapedial artery remains

434
Q

3rd aortic arch structures

A

common carotids

435
Q

4th aortic arch structures

A

proximal right subclavian

left 4th arch –> transverse aortic arch

436
Q

6th aortic arch structures

A

pulmonary artery
DA

437
Q

hormone associated with ROP severity

A

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
Q

example of a time-dependent drug

A

ampicillin

time-dependent = bactericidal action depends on time spent above the MIC
* give more frequently to increase bactericidal activity

439
Q

example of a concentration-dependent drug

A

gentamicin

concentration dependent = bactericial action (& post-antibiotic effect) depend on max concentration
* give higher dose to increase bactericidal activity

440
Q

most common vascular ring

A

double aortic arch (50% of cases)

441
Q

2nd most common vascular ring

A

right aortic arch with aberrrant left subclavian (30% of cases)

442
Q

apgar scores associated with increased risk of CP

A

10 and 20 minute of 0-3 incur significant increased risk of CP (17-60%)

443
Q

risk of malignancy with SCT

A

low (neonatal form)

444
Q

therapeutic index formula

A

TD 50/ED 50

TD = toxic dose in 50% of subjects
ED = effective dose in 50% of subjects

445
Q

Malformations most common with antiepileptics

A

Neural tube defects (VPA most common)
Urogenital
Craniofacial

446
Q

Malformations most common with antiepileptics

A

Neural tube defects (VPA most common)
Urogenital
Craniofacial

447
Q

Malformations most common with antiepileptics

A

Neural tube defects (VPA most common)
Urogenital
Craniofacial

448
Q

Side effects of epidural

A

Maternal fever
Longer 2nd stage labor
Maternal hypotension

449
Q

Category 1 tracing

A

Normal HR
Normal variability (moderate, 6-25 bpm amplitude)
No lates or variables
+/- early & accelerations

450
Q

Free water deficit formula

A

L = % body water * wt kg * ([current/ideal] - 1)

451
Q

Which type of bronchopulmonary sequestration can be associated with other anomalies?

A

EXTRA-lobar

452
Q

Clinical disease associated with surfactant A deficiency or dysfunction

A

More severe RDS picture

453
Q

Clinical disease associated with surfactant B deficiency or dysfunction

A

Interstitial lung disease childhood

454
Q

Clinical disease associated with surfactant C deficiency or dysfunction

A

Mild disease to respiratory failure requiring transplant

Symptoms not apparent until few months of age

455
Q

Organisms most commonly associated with chorioamnionitis

A

Ureaplasma & mycoplasma

456
Q

Pre vs post natal steroid exposure effect on lungs

A

ANCS - decrease mesenchymal tissue & increase airspace volume

Postnatal - arrest alveolar septation & micro vascular development

457
Q

Facts for choanal atresia

A

50% associated with other anomalies
2/3 unilateral (RIGHT most common)
Females more commonly affected

458
Q

Lung parameters INCREASED in neonates (vs adult)

A

RR
residual volume
minute ventilation

459
Q

Lung parameters DECREASED in neonate (vs adult)

A

Tidal volume
Total lung capacity
Inspiratory capacity
Vital capacity

460
Q

Lung parameters SIMILAR in neonate (vs adult)

A

Dead space
FRC

461
Q

iNO mechanism of action

A

L-arginine —> iNO (via nitric oxide synthetase) —> cGMP production —> increased Ca++ EFFLUX —> smooth muscle relaxation

462
Q

Effect of high chest wall compliance in neonate

A

LESS opposing force to lung recoil —> increased atelectasis

463
Q

EKG changes with endocardial cushion defect

A

Superior axis deviation (superior displacement of AV node)

464
Q

Most common cause of hypertrophic cardiomyopathy in neonates and children under 4yo

A

Noonan’s Syndrome

465
Q

Indomethacin MOA

A

PGE2 Inhibitor

466
Q

PDA constrictors

A

PGF-2alpha
Bradykinin
Oxygen
Acetylcholine

467
Q

First line treatment atrial flutter

A

Usually due to atrial re-entry
Digoxin (blocks ventricular rate)

468
Q

Which twin is more commonly affected by congenital heart disease in TTTS

A

Recipient

469
Q

Blooms Taxonomy

A

Knowledge (describe)
Comprehension (explain)
Application (choose tx)
Analysis (differential dx)
Synthesis (most likely diagnosis)
Evaluation (decide on broader level management)

470
Q

Organisms implicated in osteomyelitis

A

Staph aureus (most common)
H. Flu
GBS
E. coli
Candida
N. Gonorrhoeae

471
Q

Infections that require airborne precautions

A

TB
Varicella

*also require simultaneous contact precautions

472
Q

Infections that require droplet precautions

A

Rubella (+contact)
Parvo B19

473
Q

Risk of symptoms with congenital CMV by route of transmission

A

Most are typically asymptomatic, regardless of transmission route

474
Q

Treatment for congenital Toxo

A

Pyrimethamine & sulfadiazine x1 year

475
Q

Risk of transmission of congenital toxo through pregnancy

A

Risk increases with advancing gestation, more severe disease if acquired earlier in pregnancy

476
Q

Risk of transmission of congenital syphilis through pregnancy

A

Transmission possible at any time, worse if acquired later in pregnancy

477
Q

Risk of transmission of congenital rubella through pregnancy

A

Higher risk transmission early and late in pregnancy, more severe if acquired early

478
Q

Risk of transmission of congenital cmv through pregnancy

A

Can occur any time, more severe if acquired early

479
Q

Treatment for congenital TB

A

INH
Rifampin
Pyrazinamide
Aminoglycoside

480
Q

Risk of HIV transmission via breastmilk

A

9-15%

481
Q

Presumptive negative congenital HIV testing

A
  • 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
Q

Definitive negative congenital HIV

A
  • Negative RNA or DNA pcr x2 @ 1 & 4 months
  • Negative antibody x2 at greater than 6m
483
Q

Definitive negative congenital HIV

A
  • Negative RNA or DNA pcr x2 @ 1 & 4 months
  • Negative antibody x2 at greater than 6m
484
Q

Definitive negative congenital HIV

A
  • Negative RNA or DNA pcr x2 @ 1 & 4 months
  • Negative antibody x2 at greater than 6m
485
Q

Which is the only immunoglobulin produced by the FETUS

A

IgM - small amounts of

(All IgG is maternal until after birth)

486
Q

Problem in Bruton’s agammaglobulinemia and inheritance pattern

A

X-linked

Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)

487
Q

Problem in Bruton’s agammaglobulinemia and inheritance pattern

A

X-linked recessive

Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)

488
Q

Problem in Bruton’s agammaglobulinemia and inheritance pattern

A

X-linked

Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)

489
Q

Problem in Bruton’s agammaglobulinemia and inheritance pattern

A

X-linked

Pre-B cells cannot differentiate into immature B cells (aka B cell developmental arrest/block)

490
Q

Neutrophil function in preterm vs term vs adult

A

Preterm - decreased phagocytic ability
Term - similar phagocytosis, granule & degranulation response as adults

491
Q

Duration of treatment HSV congenital

A

10 days if high risk transmission & negative testing

14 days if SEM

21 days if CNS

492
Q

Gene defect in LAD

A

Beta 2 integrin gene (ITGB2)

493
Q

Amp C organisms

A

Serratia
Pseudomonas
Acinetobacter
Citrobacter
Enterobacter

Amp C inducible are resistant to cephalosporins & beta-lactamase inhibitor antibiotics too

494
Q

Congenital asplenia syndromes

A

Ivemark (+heterotaxy)
Pearson (+bone marrow failure)
Stormorken (+thrombocytopenia)
Smith-Myers-Fineman (+X-linked, ID, cryptorchidism)

495
Q

Peripheral smear finding specific to splenic dysfunction

A

Howell-Jolly bodies
*can be normal up to 7 DOL

(Heinz bodies can be seen, but not specific)

496
Q

Treatment for symptomatic congenital CMV & rationale

A

6 months valgancyclovir:
- better neuro developmental AND hearing outcomes vs 6 weeks (hearing only)
- valgan similar levels as IV ganciclovir

497
Q

Early onset sepsis pathogens in order of frequency

A

GBS > E. Coli > ENTEROCOCCUS > Staph aureus > Listeria

498
Q

Most common sequelae of untreated ASYMPTOMATIC congenital toxo

A

Chorioretinitis

*SYMPTOMATIC infants more commonly have ID, seizures, spasticity & deafness

499
Q

Commonly used class of medications that INHIBIT P450

A

Proton pump inhibitors

*exception: pantoprazole, least interaction

500
Q

% within 1 SD of mean

A

34.1% on EACH side of the mean

501
Q

% infants within the 2nd SD interval from the mean

A

13.6% on EACH side of mean

502
Q

% of infants within the 3rd SD interval from the mean

A

2.2% on EACH side of the mean

503
Q

When does cumulative incidence approximate incidence rate

A

When:
- observation period is short
- disease prevalence is low
- duration of disease is same in exposed & non-exposed

504
Q

When does cumulative incidence approximate incidence rate

A

When:
- observation period is short
- disease prevalence is low
- duration of disease is same in exposed & non-exposed

505
Q

When does cumulative incidence approximate incidence rate

A

When:
- observation period is short
- disease prevalence is low
- duration of disease is same in exposed & non-exposed

506
Q

When does cumulative incidence approximate incidence rate

A

When:
- observation period is short
- disease prevalence is low
- duration of disease is same in exposed & non-exposed

507
Q

Relationship between statistical power and SD

A

Inverse - higher power with smaller SD

508
Q

Thyroid levels in preterm infants over first 1-2 weeks of life

A
  • 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
Q

Which thyroid hormone is increased during times of illness?

A

rT3

510
Q

Congenital effects of intrauterine exposure to methimazole

A

Cutis aplasia
TEF
Esophageal atresia
Choanal atresia

511
Q

Thyroid hormone component that is elevated in preterm infant vs term

A

Thyroglobulin

512
Q

Which structure are the Wolffian Ducts derived from?

A

Mesoneohros duct

513
Q

Which structure are the Müllerian ducts derived from?

A

Paramesonephric duct

514
Q

At what gestational age do testes begin to descend into inguinal canal?

A

Around 28 weeks

515
Q

What provides stimulation for fetal testosterone synthesis before the tested take over and at what GA does this happen?

A

Maternal Hcg —> LH triggers Leydig cell production of testosterone after 8 weeks

516
Q

High or low phosphate formula for hypocalcemia?

A

LOW phosphate formula

517
Q

High or low phosphate formula for hypocalcemia?

A

LOW phosphate formula

518
Q

High or low phosphate formula for hypocalcemia?

A

LOW phosphate formula

519
Q

Drugs that can displace bilirubin from albumin

A

Sulfonamides
Ceftriaxone
Chloral hydrate
Ibuprofen

520
Q

Drugs that bilirubin can displace from albumin

A

Ampicillin
Penicillin
Phenobarbital
Phenytoin

521
Q

Names of categorical variables

A

Ordinal
Nominal

522
Q

What parameter can change PPV & NPV?

A

Prevalence

(does NOT change sensitivity & specificity, as these are characteristics of the test)

523
Q

NADPH levels in various hemolytic anemias

A

Pyruvate kinase deficiency - NORMAL (Amish population)
G6PD - LOW

524
Q

Classic vs. early vs. late onset vitamin K deficiency timing

A

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
Q

Mechanisms of physiologic indirect hyperbilirubinemia

A
  • increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation)
  • decreased hepatic uptake from plasma (low ligandin)
  • impaired excretion
  • decreased conjugation
526
Q

Mechanisms of physiologic indirect hyperbilirubinemia

A
  • increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation)
  • decreased hepatic uptake from plasma (low ligandin)
  • impaired excretion
  • decreased conjugation
527
Q

Mechanisms of physiologic indirect hyperbilirubinemia

A
  • increased hepatic load (RBC turnover, ineffective recycling of rbc, enterohepatic circulation)
  • decreased hepatic uptake from plasma (low ligandin)
  • impaired excretion
  • decreased conjugation
528
Q

% total body iron contained in hemoglobin

A

80%

529
Q

Healthy term infant total body iron content

A

75mg/kg

530
Q

Healthy term infant total body iron content

A

75mg/kg

531
Q

Healthy term infant total body iron content

A

75mg/kg

532
Q

Rate of fetal iron accrual

A

1.6-2 mg/kg/day

533
Q

Classic lab findings of vitamin K deficiency bleeding

A

Prolonged PT

Normal aPTT and platelet count

534
Q

Mechanism of thrombocytopenia in TAR syndrome

A

Block of megakaryocyte precursor

535
Q

Neuroblastoma facts

A

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
Q

Syndromes associated with Wilms tumor

A

Beckwith Weidemann
Denys-Drash
Perlman
WAGR

537
Q

Most common site of kernicterus

A

Basal ganglia

538
Q

Newborn screen results with sickle cell and thalassemia variants

A

FAS = sickle cell TRAIT
FS = sickle cell disease or sickle beta thal
FSA = sickle cell beta+

539
Q

Major diagnostic criteria CHARGE

A

Coloboma
Cranial nerve dysfunction
Characteristic ear
Choanal atresia

540
Q

What association does Townes Brocks syndrome look similar to?

A

VACTERL

T-B syndrome has a genetic test and is considered a true “syndrome”

541
Q

Wart like nevus that can be associated with skeletal defects, ocular complications, CNS disease

A

Epidermal nevus

542
Q

Example of an x-linked dominant condition that is primarily seen in females and why

A

Incontinentia pigmenti

Lethal in males

543
Q

Disorders with FISH probes available

A

T13, 18 & 21
Prader-Willi
Angelman
Cri du chat
Digeorge
Miller Dieker (congenital lissencephaly)
Williams
4p deletion (Wolf Hirschhorn)

544
Q

Syndromes associated with advanced paternal age

A

Achondroplasia
Crouzon
Apert
NF
OI
Thanatophoric Dysplasia

545
Q

Disorders more common in FEMALES

A

Congenital hip dysplasia
Choanal atresia
Choledochal cysts
Hemangioma
ASD
PDA
Anencephaly
Congenital hypothyroid
Ureterocele

546
Q

Trisomy 21 risk of recurrence

A

1% if no parental translocation
5% if paternal translocation
10-15% if maternal translocation

547
Q

Cloverleaf skull

A

Thanatophoric dysplasia

548
Q

Eosinophils on Tzanck smear

A

Incontinentia pigmenti

549
Q

MOST clinically significant difference between preterm and term skin

A

Structure of stratum corner (thinner in infants born <32 weeks)

550
Q

typical location for Nevus of Ota

A

periorbital, face

551
Q

typical location for Nevus of Ito

A

shoulders, supraclavicular, neck, upper back

552
Q

pharmacokinetics of propranolol

A

NON-selective B-blocker (blocks B1 and B2)

1st order kinetcs
half life 3-6 hours, peak effect 1-4 hours
lipoPHILic

553
Q

disorder that shares PTPN11 mutation with Noonan’s & it’s characteristics

A

LEOPARD syndrome

Lentigines
ECG abnormalities
Ocular hypertelorism
Pulmonic stenosis
Abnormal genitalia
Retardation of growth
Deafness

554
Q

common disorder related to keratin mutation

A

epidermolytic ichthyosis

AD inheritance
keratin 1 or 10 mutation
keratin hyperproliferation & fragility –> poor skin barrier

555
Q

Common condition associated with imprinting during assisted reproductive therapy

A

Beckwith-Weidemann
*unclear if due to ART or underlying infertility

556
Q

differentiating feature between urea cycle defects and transient hyperammonemia

A

NORMAL plasma amino acid profile for transient hyperammonemia

557
Q

imprinting disorder of chromosome 6

A

transient neonatal diabetes mellitus

558
Q

what type of genetic test can detect UPD?

A

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
Q

clavicle hypoplasia, drooping shoulders, wide fontanelles/sutures

A

cleidocranial dysplasia

560
Q

two types of prenatal screening that can be DIAGNOSTIC (vs just screening)

A

CVS
amnio

561
Q

indications/conditions screened for by cffDNA

A

aneuploidy (NOT triploidy)
Rh status
sex identification
CAH risk

562
Q

reasons for inadequate amount of fetal DNA

A

early GA
suboptimal sampling
maternal obesity
abnormal fetal karyotype

563
Q

prenatal quad screen findings in Smith-Lemli-Opitz

A

low uE3 (decreased steroid precursors)
low AFP
low hcg

564
Q

disorders with DOWNslanting palpebral fissures

A

Rubenstein Taybi
Cri du Chat

565
Q

% chance of major anomaly with 3 minor anomalies

A

20%

566
Q

% of healthy newborns with 1 minor anomaly

A

20%

567
Q

another name for generalizability of a study

A

external validity

568
Q

characteristics of “research” vs. clinical practice

A

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
Q

shallow orbital ridges, profound hypotonia, calcific bone stippling

A

Zellweger Syndrome

570
Q

diarrhea, dermatitis, eosinophilia

A

SCID

571
Q
A
572
Q

Methemoglobinemia at birth is associated with what condition?

A

Cytochrome-b5 reductase deficiency

573
Q

Skin condition associated with pyloric atresia

A

EB

574
Q

Type of cerebral palsy associated with hyper and hypotonia in same muscle with fine and gross motor delay

A

Extrapyramidal/athetoid

May also have hearing and speech abnormalities

575
Q

Causes of decreased cerebral blood flow

A

Low CO2
Increased PaO2
Increased hemoglobin
Decreased fetal hgb

576
Q

Most commonly cited disadvantage of case-control study

A

Recall bias

577
Q

What infection should you think of if mother has a cerclage or other intrauterine/vaginal device?

A

Candidasis

578
Q

What should thalalmic hemorrhage make you think of?

A

Cerebral sinovenous thrombosis

Manisha Neonatology Board Review (1 decks)

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