Neoprep Scramble Flashcards

1
Q

Named the virus that is like enterovirus except also causes seizures

A

Parechovirus (echovirus)
Picornavirus family

Can calso cause NEC
Viral shed 50 days

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2
Q

Name the disease:
Edema, hyperechoic kidneys, proteinuria
Wide split sutures
Wide set eyes, low set ears, umbilical hernia
Elevated alpha fetoprotein

A

Congenital nephrotic syndrome

NPHS1 nephrin, transmembrane protein
NPHS2 podocin, integral membrane protein
WT1 TF
PLCE1 phospholipase C epsilon protein

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3
Q

ETT measurement (Tochen’s rule)

A

6cm + weight
7-8-9

Except VLBW:
Duke’s: <1kg 5.5cm or <500g 5cm x weight
Or
Gestational age nomogram

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4
Q

Congenital methemoglobinemia

A

AR: cytochrome B5 reductase deficiency
- developmental delay, seizures, early death

AD: hemoglobin M

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5
Q

Optimal nutrient and protein retention

A

Carb to lipid ratio 60:40

Too much carb - lactic acidosis, fatty liver, cholestasis

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6
Q

Hypotonia
Cerebellar hypoplasia or cerebral atrophy
Frontal bossing, high anterior hairline, low set dysplastic ears
Hypertelorism, exophthalmos, up slanting palpebral fissures, microphthalmia
Broad flat nasal bridge, anteverted nares, long philtrum
High arched palate
Short neck
Short limbs, scoliosis, atlanto-occipital fusion, small hands and feet, polydactyly
CHD: asd/vsd, coarc, aortic stenosis, DH
GI: hernia, anal atresia/stenosis
GU abnl

A

Pallister Killian syndrome
Mosaic tetrasomy short arm chromosome 12p, non-disjunction
Needs skin or bone chromosomes studies for DX

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7
Q

Hep C screening and treatment

A

Increase risk: >6h ROM, vaginal lacerations, HIV co-infection, detectable viral load
80% risk of chronic infection to children
Maternal antibodies present up to 18mo
RNA nucleic Acid application (NAAT) as early as 1-2 m (PCR), if positive retest at 18 mo for clearance
Antiviral rx starts at 3yo x12 weeks (assess viral load at 3yo)

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8
Q

LQTC

A

AD: Romano Wars, rx beta blocker

AR: Jervell, Lange-Nielson
Hearing loss, Beta less effective

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9
Q

First line treatment for hepatoblastoma

A

Basically, chemo unless small

Presents <2yo
Elevated AFP (>158)
PRETEXT:
1. 3 contiguous free sections
4. No tumor free sections

1-2: primary resection +/- chemo
Intermediate (1/2 w/ vessels, 3: chemo then resection then chemo
4. Same as intermediate but worse outcomes

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10
Q

Seizures, hypotonia, deafness, DD,
very long chain fatty acids, polymicrogyria, subependymal cysts
Poor growth
Flat facies, large AF, high forehead and shallow supraorbital ridges
Congenital cataracts
Hepatomegaly
Patellae stippling
Renal cysts

A

Zellweger spectrum disorder
PEX gene mutations
Peroxisomal d/o

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11
Q

Brain lesion of nonketotic hyperglycinemia

A

Agenesis of corpus callosum

Sx: prenatal hiccups and seizures, postnatal hypotonia, poor feeding, seizures

Rx: csf and plasma glycine, increased csf:plasma ratio

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12
Q

Brain finding assoc with Krabbe disease or globoid cell leukodystrophy

A

Enlargement of optic nerve and chiasm

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13
Q

Brain finding of urea cycle disorder

A

Cytotoxic edema 2/2 increased glutamine (osmotically active)

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14
Q

Hypophosphatasia skeletal dysplasia etiology (severe rickets)

A

Deficiency of functional tissue non specific alkaline phosphatase
Alk phos < 50, elevated vit B6 (causes seizures)

AR (AD more mild, presents later)

Rx: ERT with asfotase Alfa

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15
Q

Hypotonia, feeding difficulty, coarse facial features, seizures, exaggerated startle, opithotonus
Brain: cerebral atrophy, enlarged ventricles, diffuse b/l periventricular abnl/?multi custom encephalomalacia

A

Molybdenum cofactor deficiency
Test urine sulfites (high), low serum uric acid (If high, sulfite oxidase deficiency)

Rx: cyclic pyranopterin monophosphate (early)

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16
Q

Pyridoxine dependent seizures

A

Defect: ALDH7A1 gene, antiquitin protein
D/o of lysine metabolism (important for GABA synthesis)

Rx can cause apnea, hypotonia, hypotension

17
Q

Cardiac tamponade: BP changes

A

Decreased PP
SBP decrease with inspiration (pulsus parodoxus) - RV cannot expand leading to bowing into LV, decreasing EDV/SV.

However: increases with inspiration if PPV

18
Q

Osteogenesis imperfecta

A

Type I collagen
COL1A1 or 1A2
Rx bisphospohnates

19
Q

Alveolar capillary dysplasia
(ILD diffuse developmental d/o)

A

Arrest of lung maturation in late canicular to saccular phase
GU: hydronephrosis
GI: atresia, malrotation
Cardiac: HLHS, aortic arch an l, PDA

Mutations in FOXF1

20
Q

Maternal zidovudine toxicity to neonate

A

Elevated serum lactate (metabolic acidosis, mitochondrial dysfunction), liver toxicity, macrocytic anemia (self limited to 3mo), relative neutropenia and lymphopenia (up to 18-24mo)

21
Q

Turribrachycephaly (tall head with flattened occiput), closed b/l coronal sutures, hypertelorism, proptosis, small beak shaped nose, hearing and dental abnl
Complex syndactyly

A

Apert Syndrome
AD, FGFR2 mutation
Advanced paternal age

22
Q

Craniosynostosis
Hydrocephalus
Cleft palate, dental abnl, hearing loss
Normal intellect

A

Crouzon syndrome
FGFR2 mutation
FGFR3 if +acanthosis nigricans, choanal stenosis/atresia, jaw growths (cementomas)

23
Q

Craniosynostosis
Acanthosis nigricans
Cutis gyrata (furrow, wrinkle @ face, ears, palms/soles)
Umbilical stump overgrowth
GU abnl

A

Beare-Stevenson syndrome
FGFR mut

24
Q

Craniosynostosis
Foot abnormalities (hands normal)

A

Jackson Weiss
FGFR2

25
Pfeiffer syndrome subtypes
1 Turribrachycephaly, normal intelligence, FGFR1 or 2 2 cloverleaf skull, hydrocephalus, elbow ankylosis, organ malformation, DD; FGFR2 3 type 2 but not cloverleaf. +Upper limb abnl
26
Treatment for cystathionine B synthase/MTHFR deficiency
Betaine Supplement folate, B6, B12 AR
27
Harlequin icthyosis
Systemic retinoid RX Multidisciplinary ABCA12 mutation -lipid transport
28
CRRT mechanisms
Hemofiltration: SCUF, CVHF: convection (hydrostatic pressure gradient) CVVHD: diffusion down conc gradient CVVHDF (combo): diffusion and convection
29
Treatment for homocysteinemia
Betaine (convert homocysteine to methionine, redirection) Also folate and B12 MTHFR polymorphism
30
Gorlin syndrome cardiac mass
Fibroma Grow Left ventricle PTCH1 Need early section Risk for basal cell carcinoma
31
B6 dependent seizures control
ATQ deficiency Increased lysine (diet restriction might help) Elevated pipecoloc acid is plasma
32
Aicardi syndrome
Agenesis corpus callosum Polymicrogyria/lissencephaly Ocular abnormalities Hemivertebrae Seizures TEAD1 gene, X link dominant chromosome (not always) Females only, lethal male