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Board Study Cards Flashcards

1
Q

Describing oxygen dissociation curve

A

Left, higher affinity:
High pH, fetal hemoglobin, decrease 2,3 diphosphoglycerate, low CO2, decrease temp
Right, lower affinity.

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2
Q

Heart Block + Thrombocytopenia
what’s the disease

A

neonatal lupus
neonatal lupus rash
anti-Ro (SSA) and anti-La (SSB antibodies_
fetal effects are independent from severity of maternal illness
IUGR

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3
Q

most common cardiac issue in Turner
most common severe cardiac issue
what’s the abnormalities with hand

A

bicuspid aortic valves
coarctation of the aorta
limb edema

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4
Q

phases in lung development

A

Embryonic (0-5 wk)
Psudoglandular (5-16 wk)
Canalicular (16-25 wk)
Terminal sac (Saccular) (25-36 wk)
Alveolar and Vasculature (36 wk+)

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5
Q

what urea cycle defect is x-linked recessive

what about the rest of them

A

Ornithine carbamyl transferase (also most common)
(high urine orotic aice, high glutamine/alanine. low citrulline and arginine)

the rest are mostly autosome recessive.

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6
Q

CAH

A

if 1st is 1: –> HTN
if 2nd is 1: –> become male

21- normal BP, female with ambiguous genitalia
11 beta - HTN, female with ambiguous genitalia
17 alpha- HTN, male with ambiguous genitalia
3 beta- : incomplete male, ambiguous female, normal BP, salt wasting

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7
Q

meoconium ileus and CF

A

90% patients with meconium ileus have CF.

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8
Q

which thyroid compound does not cross placenta

A

TSH does not cross

T4, T3: infant make at 14-15 wks.

TRH can cross but only in small amount
T4 convert to rT3 by placenta

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9
Q

respiratory quotient: low to high

A

low to high:
Fat, protein, carbonhydrate

RQ: CO2 produced / ox2 consumed
used in calculatin of basal metabolic rate (BMR)

Don’t confuse with energy production.
(energy production: fat is the highest)

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10
Q

term infant:
high methionine
positive urine nitroprusside test

A

homocystinuria

methionine and homocystein high.

doward dislocated lens, osteoporosis, etc.

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11
Q

false negative CCHD occurs when

A

hypoplastic left heart, coarctation to aorta, aortic stenosis.

all left sided cardiac lesions.

can have low perfusion.

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12
Q

vitamin E deficiency

A

hemolysis, anemia, reticulocytosis

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13
Q

Vit B12 deficient

A

macrocytic anemia, hyper-segmented neutrophils

Terminal Ileum: nec kid at risk

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14
Q

photophobia, conjunctivitis could be due to what vitamin deficiency

A

a number of vitamins:
A, B, D.

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15
Q

BPP (explain)

A

fetal movement: 3
breathing: > 30s, 1 breath
tone: 1 flexion/extension
Amionic fluid: 1> 2cm x 1cm

NST: reactive >/ 2 FHR, accel > 15 bpm, lasting >/ 15s

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16
Q

what can microarray detect

A

microdeletion or duplications, unbalanced translocation, aneuploides, some imprint

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17
Q

Tzanck test

A

HSV

can also varicella, CMV

Look for Tzanck cells at base of lesion

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18
Q

Tricuspid atresia EKG

A

Left superior QRS axis: I, aVF
AV cannal
Tricuspid atresia

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19
Q

primary respiratory alkalosis
what disease

A

Urea cycle defect.
central hyperventilation
(due to hyperrammonia)

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20
Q

Northern analysis.
Southern blot.
Western blot
Eastern blot

A

Northern analysis: DNA probe digest RNA
Southern blot: DNA probe digest DNA
Western: antibody probe detect protein.
Eastern: probe to find protein modification.

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21
Q

surfactant deficiency: most severe

A

surfactant: Protein B

A, B, C, D.
90% lipid and 10% protein.

also cause of lung issues:
ABCA2 transporter deficiency

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22
Q

newborn with:
lower eyelid colobomas
down-slanting palpebral fissues
mandibular hypoplasia
dysmporhpic ears
hearing loss

A

Tracher collin syndrome

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23
Q

zidovudine side effect in neonate

A

Macrocytoic anemia

6 weeks. 2mg/kg/dose

check hemolgobin at birth and 1 month.

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24
Q

echogenic bowel: bright bowel. (white).
what’s possible cause

A

CF, aneuploidy (decrease bowel motility), CMV infection, IUGR, swallowed blood. (clotts)

If bowel is whiter than iliac bone, it’s echogenic.

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25
Q

Prader-Willi does not have what

A

Hydroneprhosis

almond-shap eye, diminished DTR, hypogonadonism.

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26
Q

classic PKU lab:
What is high,
What is low
what enzyme deficiency is present

A

high phenylalanine
low Tyrosine,
high urine phenylpyruvate (from excreted phenylalanine to urine)

phenylalanine hydroxylase deficient.

resource: can use ACT sheet from metabolic disease to help form ddx.

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27
Q

zinc deficiency

A

rash

Acute zinc deficiency: dermatitis around limbs, body orifices (mouth), diarrhea, impaired immune function.

Chronic zinc deficiency: liver and kidney failure.

essential trace element, cofactor for enzyme,

support: immune function. protein metabolosim, developmen of GI track.

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28
Q

maternal fever
chocolate color amnionic fluid
hispanic woman

A

Listeria
3rd leading cause of meningitis
invade syncytitrophoblasts.
pregnant hispanic women are 24 times more likely.
placental microabscess.

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29
Q

gestational alloimmune liver disease (GALD)

A

GALD:
prior sibling with disease
maternal antibodies attack fetal hepatocytes.
extensive fibrosis, proliferation of progenitor cell tubules.
can do exchange transfusion
process starts midgestation, resulting in liver failure and/or cirrhosis

LFT normal. because hepatocytes have died. can give pregnancy women IVIG

they act as in live failure

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30
Q

name some x-link dominant disease

A

fragile x, aicardi syndrome, incontinetia pigmentosa,
Vitamin D -resistant rickets.

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31
Q

hypocalcemia cause what EKG abnormalities

A

prolonged QT

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32
Q

Anomalous L coronary artery to pulmonary artery

EEG finding?
Pathophysiology and why?

A

ALCAPA:
Q waves: I, avL, V4-V6

ST segment elevtion.

PVR low, flow reverses and now ferom left conoary art to PA –> ischemia.

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33
Q

Kerniterus sequence

A

hearing loss,
extrapyramidal syndromes (athetosis and chorea)
visual abnormalities (gaze palsies).
abnormal dentition

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34
Q

mom with acute fatty liver disease of pregnancy (AFLD) and HELLP syndrome. infant at risk for

A

LCHAD deficiency
(Long chain 3-hydroxacyl-CoA dehydrogenase) deficiency

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35
Q

why is G6PD elevated (false negative) in younger baby

A

severe hemolysis -> increase reticulocyte –> increase G6PD levels.

G6PD activity higher in younger immature RBCs even if have G6PD def.

hemolysis from G6PD is self-limited a younger TBD more resostant t to hemolysis.

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36
Q

Salt and pepper retina

A

Rubella

Syphillis

depigmentation and pigmentation

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37
Q

Blue-diaper syndrome

A

abnormal intestinal tryptophan transport

blue urine

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38
Q

Alaskan Eskimos (infection)

A

Hep B

(Alaskan Eskimos are not impacted by Hep B as much)

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39
Q

Blueberry muffin

A

CMV

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40
Q

Celery-stalking long bone

A

Rubella

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41
Q

Popcorn-snowflake intra-cranial calcifications

A

Toxo

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42
Q

Greek-helmet facies

A

Wolf Hirschohorn

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43
Q

Mitten hands/feet

A

Aperts

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44
Q

Cloverleaf skull

A

thanatophoric dysplasia (a type of achondroplasia)
Pfeiffer, Crouzon

45
Q

Pili torti

A

Menkes disease

(X-linked recessive disorder that causes copper deficiency. Copper build up kidney and intestine)

Pili Torti: fragile hair.
flattened shaft with clusters of narrow twists at irregular intervals

46
Q

Testes at “12” (by 12 year of age)

A

5-alpha reductase deficiency

47
Q

Seal bark cry

A

> tracheomalacia
need to look for esophageal atresia

48
Q

Stippled epiphyses

A

coumadin

49
Q

Hockey stick palmar crease

A

fetal EtOH

50
Q

Patellar stippling

A

Zellweger’s

51
Q

Snuffles, saber shins, Hutchinson’s teeth

A

syphilis

52
Q

x-ray:
single bubble
double bubble
triple bubble

A
  • Single bubble > pyloric atresia
  • Double bubble > duodenal atresia
  • Triple bubble > jejunal or ileal atresia
53
Q

Apple core/string sign

A

pyloric stenosis

54
Q

“filling defects” on barium enema

A

meconium plug

55
Q

Northern European mother-infant with anemia

A

sphero/elliptocytosis, pyruvate kinase deficiency.

56
Q

Navajo Indian

A

congenital Met Hb

57
Q

chocolate blood

A

metHb

58
Q

Finnish or Amish/neutropenia

A

Cartilagehair-hypoplasia

59
Q

Sodium valproate
(Depakote)

A

NTD, limb defect

60
Q

Digoxin toxicity

A

feeding intolerance, any arrhythmia

61
Q

Boggy placenta

A

syphilis, congenital nephrotic syndrome

62
Q

3/E - sign

A

coarctation

63
Q

heart on CXR:
snowman
Boot
Egg

A

Snowman-TAPVR,
Boot-TOF,
Egg-TGA

64
Q

Howell-jolly bodies

A

no spleen

65
Q

Heinz bodies

A

denatured Hb, enzyme defect
Ex: Thalassemia, G6PD

66
Q

Banana/lemon sign on prenatal US

A

meningomyelocele

67
Q

Mouse urine odor

A

PKU

68
Q

Sweaty feet (odor)

A

Isovaleric academia,
Glutaric aciduria type 2

69
Q

Urine succinylacetone elevated

A

tyrosinemia

70
Q

Male cat urine smell

A

Beta-methylcrotonyl glycinuria

71
Q

Meckel-Gruber Syndrome

A

encephalocele

Other:
This rare AR lethal malformation characterized
1. occipital encephalocele,
2. bilateral polycystic kidneys
3. post axial polydactyly.

72
Q

Dive bomber EMG

A

congenital myotonic dystrophy

73
Q

Corkscrew upper GI

A

malrotation

74
Q

Lithium

A

Ebstein’s

75
Q

Elfin facies

A

William’s syndrome

76
Q

Expressionless facies

A

Mobius

77
Q

Cataracts and hepatomegaly
What metabolic disease?

A

Galactosemia

78
Q

Retrograde aortic flow (as in aorta) on echo

A

HLHS

79
Q

T18 and T 21 quad screen

A

T21: low AFP, high beta-HcG, low estradiol, high inhibin

T18: normal inhibin, rest are Low

Quad cannot diagnose other conditions

80
Q

Division of zygote and type of twins

A

Days:
0-3: di-di
3-8: mo-di
8-13: mo-mo

13-15 or more: conjoined

81
Q

double walled incubator

A

deacrease radiant heat loss

82
Q

place infant in isolette (as to open radiant warmer)

A

decreas convective heat loss
(air)

83
Q

Lab in 21-hydroxylase deficiency

A

^ 17-OHP (17-OH progesterone)
Even after ACTH stim, ^ 17-OHP

Salt wasting

84
Q

Lab in 11 beta-hydroxylase deficiency

A

^ DOC and deoxycortisol

85
Q

Lab in 17 alpha-hydroxylase deficiency

A

^ DOC, ^ corticosterone,
Low 17-OHP, low 17-OH pregnenolone

86
Q

3 beta-hydroxyesteroid dehydrogenase deficiency

A

Ambiguous genitalia for male AND female
Normal BP, salt wasting

^ 17-OH pregnenolone, pregnenolone, DHEA

87
Q

Normal PT, PTT, plt. But infant bleed, what factor deficiency?

A

Factor XIII deficiency

88
Q

Site of EPO production in fetus and neonate

A

Fetal liver
Change to kidney in 3rd trimester

But Liver > Kidney in general

89
Q

Stem cell is from where?

A

Mesoderm

90
Q

Hematopoiesis sites fetus

A

Secondary yolk sac (16 days to 8 wk)
Liver (6 wk - 22 wk)
Bone marrow (start at 8-19 wk. primary after 22 wk)

91
Q

Most common inherited kidney disease

A

Autosomal dominant polycystic kidney disease
Don’t normally present in neonate period

92
Q

Infectious causes of cataract

A

Rubella, HSV, Varicella, Toxo

93
Q

Metabolic causes of cataract

A

Galaxtosemia
Galaxtokinase deficiency
T21?
Smith-lemli-Opitz
Stickler
WAGR
Lowe syndrome (oculocerebrorenal syndrome)

94
Q

Pompe disease, what lab is elevated

A

Creatine phosphokinase

95
Q

how can you tell the differencd between
carbamyl phosphate synethase deficiency
vs.
Ornithine carbamyl transferase deficiency

A

Ornithin carbamyl transferase deficiency has higher urine/plasma Orotic acid
It’s also most common. x-link recessive.

96
Q

Preeclampsia vs. severe preeclampsia

A

SBP>140 or DBP>90 plus proteinuria (>300 mg or dipstick 1+)
SBP>160 or DBP>110 plus proteinuria (>5000 mg (24hr))

97
Q

Fetal Finding: SGA/IUGR, large placenta, elevated AFP
Neonatal Finding: severe protein uria, hypoproteinemia, hyperlipidemia

what is this?
genetic pattern (and gene)
infant at risk for what?

A

Congenital nephrotic syndrome, Finnish Type
AR (NPHS1)

also immunocompromised (loss immunoglobulins) and thrombosis (loss anti-coagulation proteins)
–> need dialysis and renal tranplant.

Diffuse mesangial sclerosis: similar presentation. but no in utero finding. present later

98
Q

Lowe Syndrome

A

oculo-cerebro-renal syndrome
- Eye: cataracts, glaucoma
- Nervous: hypotonia, areflexia, mental deficiency
- Kidneys: tubular dysfunction, proteinuria, amnioaciduria, congenital neprhotic syndrome
- Reproductive: cryptorchidism

x-link recessive

elevated maternal and amniotic AFP (like congenital nephrotic syndrome finish type).

Golgi apparatus

99
Q

triangular facies, protruding ears, large eyes w/ strabismus, drooping mouth
polyhdramnios

What syndrome is this?
what eletrolyte abnormalities?

A

Bartter syndrome

hypokalemia, metabolic alkalosis,
hypercalciuria. (also hypo Na, hypoCl, hypoMg, hypoCa)
-> severe salt wasting, hypotention.
-> polyuria.

(affect loop of Henle, Na, Cl, and K transport).

100
Q

ARPKD is associated with what?

A

congenital hepatic fibrosis
biliary dysgenesis.

(prenatal ultrasound shows abnormal kidney until later in gestation. vs. MCDK, has bad ultrasound earlier in GA, 20 weeks)

101
Q

MCDK is normally associated with what?

A

urinary tract abnormalities
i.e. VUR vesicoureteral reflux

102
Q

Renal development: differentiate the below.
pronephros
mesonephros
metanephros

Nephrogenesis complete by __ GA

A
  • Pronephros: goes away by 4 week
  • Mesonephros:
    1. ureteric buds: collecting duct (w/o ureteric bud, renal agensis)
    2. seminal vesicles/ GU structure
  • Metanephros: definitive kidney (True kidney)

35-36 weeks.

103
Q

what hematological abnormalities is found with Fatty acid deficiency?

A

Thrombocytopenia!
*FAD has rash（scaly rash), like zinc deficiency. but it has low Plt too! *
the symptoms of FAD showes up earlier, in a couple week. Zinc deficiency in a couple months

104
Q

Thalamic hemorrhage

A

Cerebral sinovenous thrombosis

105
Q

What gestational age is maximal rate of growth

A

28-32 weeks

106
Q

PVL in premie. What type of cerebral palsy

A

Spastic DIPLAsia (lower more affected than upper)

107
Q

Narrow pulse pressure
Vs
Wide pulse pressure

A

Narrow: tamponade (cardiac)
Wide: tension Pneumo, PDA

108
Q

DTGA, triagnular face, cirotia, epicantha folds, smaller arm, macrocephaly
what maternal drug expsoure

A

Isotrtinoin.

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