Board Study Cards Flashcards
Describing oxygen dissociation curve
Left, higher affinity:
High pH, fetal hemoglobin, decrease 2,3 diphosphoglycerate, low CO2, decrease temp
Right, lower affinity.
Heart Block + Thrombocytopenia
what’s the disease
neonatal lupus
neonatal lupus rash
anti-Ro (SSA) and anti-La (SSB antibodies_
fetal effects are independent from severity of maternal illness
IUGR
most common cardiac issue in Turner
most common severe cardiac issue
what’s the abnormalities with hand
bicuspid aortic valves
coarctation of the aorta
limb edema
phases in lung development
Embryonic (0-5 wk)
Psudoglandular (5-16 wk)
Canalicular (16-25 wk)
Terminal sac (Saccular) (25-36 wk)
Alveolar and Vasculature (36 wk+)
what urea cycle defect is x-linked recessive
what about the rest of them
Ornithine carbamyl transferase (also most common)
(high urine orotic aice, high glutamine/alanine. low citrulline and arginine)
the rest are mostly autosome recessive.
CAH
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
meoconium ileus and CF
90% patients with meconium ileus have CF.
which thyroid compound does not cross placenta
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
respiratory quotient: low to high
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)
term infant:
high methionine
positive urine nitroprusside test
homocystinuria
methionine and homocystein high.
doward dislocated lens, osteoporosis, etc.
false negative CCHD occurs when
hypoplastic left heart, coarctation to aorta, aortic stenosis.
all left sided cardiac lesions.
can have low perfusion.
vitamin E deficiency
hemolysis, anemia, reticulocytosis
Vit B12 deficient
macrocytic anemia, hyper-segmented neutrophils
Terminal Ileum: nec kid at risk
photophobia, conjunctivitis could be due to what vitamin deficiency
a number of vitamins:
A, B, D.
BPP (explain)
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
what can microarray detect
microdeletion or duplications, unbalanced translocation, aneuploides, some imprint
Tzanck test
HSV
can also varicella, CMV
Look for Tzanck cells at base of lesion
Tricuspid atresia EKG
Left superior QRS axis: I, aVF
AV cannal
Tricuspid atresia
primary respiratory alkalosis
what disease
Urea cycle defect.
central hyperventilation
(due to hyperrammonia)
Northern analysis.
Southern blot.
Western blot
Eastern blot
Northern analysis: DNA probe digest RNA
Southern blot: DNA probe digest DNA
Western: antibody probe detect protein.
Eastern: probe to find protein modification.
surfactant deficiency: most severe
surfactant: Protein B
A, B, C, D.
90% lipid and 10% protein.
also cause of lung issues:
ABCA2 transporter deficiency
newborn with:
lower eyelid colobomas
down-slanting palpebral fissues
mandibular hypoplasia
dysmporhpic ears
hearing loss
Tracher collin syndrome
zidovudine side effect in neonate
Macrocytoic anemia
6 weeks. 2mg/kg/dose
check hemolgobin at birth and 1 month.
echogenic bowel: bright bowel. (white).
what’s possible cause
CF, aneuploidy (decrease bowel motility), CMV infection, IUGR, swallowed blood. (clotts)
If bowel is whiter than iliac bone, it’s echogenic.
Prader-Willi does not have what
Hydroneprhosis
almond-shap eye, diminished DTR, hypogonadonism.
classic PKU lab:
What is high,
What is low
what enzyme deficiency is present
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.
zinc deficiency
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.
maternal fever
chocolate color amnionic fluid
hispanic woman
Listeria
3rd leading cause of meningitis
invade syncytitrophoblasts.
pregnant hispanic women are 24 times more likely.
placental microabscess.
gestational alloimmune liver disease (GALD)
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
name some x-link dominant disease
fragile x, aicardi syndrome, incontinetia pigmentosa,
Vitamin D -resistant rickets.
hypocalcemia cause what EKG abnormalities
prolonged QT
Anomalous L coronary artery to pulmonary artery
EEG finding?
Pathophysiology and why?
ALCAPA:
Q waves: I, avL, V4-V6
ST segment elevtion.
PVR low, flow reverses and now ferom left conoary art to PA –> ischemia.
Kerniterus sequence
hearing loss,
extrapyramidal syndromes (athetosis and chorea)
visual abnormalities (gaze palsies).
abnormal dentition
mom with acute fatty liver disease of pregnancy (AFLD) and HELLP syndrome. infant at risk for
LCHAD deficiency
(Long chain 3-hydroxacyl-CoA dehydrogenase) deficiency
why is G6PD elevated (false negative) in younger baby
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.
Salt and pepper retina
Rubella
Syphillis
depigmentation and pigmentation
Blue-diaper syndrome
abnormal intestinal tryptophan transport
blue urine
Alaskan Eskimos (infection)
Hep B
(Alaskan Eskimos are not impacted by Hep B as much)
Blueberry muffin
CMV
Celery-stalking long bone
Rubella
Popcorn-snowflake intra-cranial calcifications
Toxo
Greek-helmet facies
Wolf Hirschohorn
Mitten hands/feet
Aperts
Cloverleaf skull
thanatophoric dysplasia (a type of achondroplasia)
Pfeiffer, Crouzon
Pili torti
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
Testes at “12” (by 12 year of age)
5-alpha reductase deficiency
Seal bark cry
> tracheomalacia
need to look for esophageal atresia
Stippled epiphyses
coumadin
Hockey stick palmar crease
fetal EtOH
Patellar stippling
Zellweger’s
Snuffles, saber shins, Hutchinson’s teeth
syphilis
x-ray:
single bubble
double bubble
triple bubble
- Single bubble > pyloric atresia
- Double bubble > duodenal atresia
- Triple bubble > jejunal or ileal atresia
Apple core/string sign
pyloric stenosis
“filling defects” on barium enema
meconium plug
Northern European mother-infant with anemia
sphero/elliptocytosis, pyruvate kinase deficiency.
Navajo Indian
congenital Met Hb
chocolate blood
metHb
Finnish or Amish/neutropenia
Cartilagehair-hypoplasia
Sodium valproate
(Depakote)
NTD, limb defect
Digoxin toxicity
feeding intolerance, any arrhythmia
Boggy placenta
syphilis, congenital nephrotic syndrome
3/E - sign
coarctation
heart on CXR:
snowman
Boot
Egg
Snowman-TAPVR,
Boot-TOF,
Egg-TGA
Howell-jolly bodies
no spleen
Heinz bodies
denatured Hb, enzyme defect
Ex: Thalassemia, G6PD
Banana/lemon sign on prenatal US
meningomyelocele
Mouse urine odor
PKU
Sweaty feet (odor)
Isovaleric academia,
Glutaric aciduria type 2
Urine succinylacetone elevated
tyrosinemia
Male cat urine smell
Beta-methylcrotonyl glycinuria
Meckel-Gruber Syndrome
encephalocele
Other:
This rare AR lethal malformation characterized
1. occipital encephalocele,
2. bilateral polycystic kidneys
3. post axial polydactyly.
Dive bomber EMG
congenital myotonic dystrophy
Corkscrew upper GI
malrotation
Lithium
Ebstein’s
Elfin facies
William’s syndrome
Expressionless facies
Mobius
Cataracts and hepatomegaly
What metabolic disease?
Galactosemia
Retrograde aortic flow (as in aorta) on echo
HLHS
T18 and T 21 quad screen
T21: low AFP, high beta-HcG, low estradiol, high inhibin
T18: normal inhibin, rest are Low
Quad cannot diagnose other conditions
Division of zygote and type of twins
Days:
0-3: di-di
3-8: mo-di
8-13: mo-mo
13-15 or more: conjoined
double walled incubator
deacrease radiant heat loss
place infant in isolette (as to open radiant warmer)
decreas convective heat loss
(air)
Lab in 21-hydroxylase deficiency
^ 17-OHP (17-OH progesterone)
Even after ACTH stim, ^ 17-OHP
Salt wasting
Lab in 11 beta-hydroxylase deficiency
^ DOC and deoxycortisol
Lab in 17 alpha-hydroxylase deficiency
^ DOC, ^ corticosterone,
Low 17-OHP, low 17-OH pregnenolone
3 beta-hydroxyesteroid dehydrogenase deficiency
Ambiguous genitalia for male AND female
Normal BP, salt wasting
^ 17-OH pregnenolone, pregnenolone, DHEA
Normal PT, PTT, plt. But infant bleed, what factor deficiency?
Factor XIII deficiency
Site of EPO production in fetus and neonate
Fetal liver
Change to kidney in 3rd trimester
But Liver > Kidney in general
Stem cell is from where?
Mesoderm
Hematopoiesis sites fetus
Secondary yolk sac (16 days to 8 wk)
Liver (6 wk - 22 wk)
Bone marrow (start at 8-19 wk. primary after 22 wk)
Most common inherited kidney disease
Autosomal dominant polycystic kidney disease
Don’t normally present in neonate period
Infectious causes of cataract
Rubella, HSV, Varicella, Toxo
Metabolic causes of cataract
Galaxtosemia
Galaxtokinase deficiency
T21?
Smith-lemli-Opitz
Stickler
WAGR
Lowe syndrome (oculocerebrorenal syndrome)
Pompe disease, what lab is elevated
Creatine phosphokinase
how can you tell the differencd between
carbamyl phosphate synethase deficiency
vs.
Ornithine carbamyl transferase deficiency
Ornithin carbamyl transferase deficiency has higher urine/plasma Orotic acid
It’s also most common. x-link recessive.
Preeclampsia vs. severe preeclampsia
SBP>140 or DBP>90 plus proteinuria (>300 mg or dipstick 1+)
SBP>160 or DBP>110 plus proteinuria (>5000 mg (24hr))
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?
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
Lowe Syndrome
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
triangular facies, protruding ears, large eyes w/ strabismus, drooping mouth
polyhdramnios
What syndrome is this?
what eletrolyte abnormalities?
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).
ARPKD is associated with what?
congenital hepatic fibrosis
biliary dysgenesis.
(prenatal ultrasound shows abnormal kidney until later in gestation. vs. MCDK, has bad ultrasound earlier in GA, 20 weeks)
MCDK is normally associated with what?
urinary tract abnormalities
i.e. VUR vesicoureteral reflux
Renal development: differentiate the below.
pronephros
mesonephros
metanephros
Nephrogenesis complete by __ GA
- Pronephros: goes away by 4 week
- Mesonephros:
- ureteric buds: collecting duct (w/o ureteric bud, renal agensis)
- seminal vesicles/ GU structure
- Metanephros: definitive kidney (True kidney)
35-36 weeks.
what hematological abnormalities is found with Fatty acid deficiency?
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
Thalamic hemorrhage
Cerebral sinovenous thrombosis
What gestational age is maximal rate of growth
28-32 weeks
PVL in premie. What type of cerebral palsy
Spastic DIPLAsia (lower more affected than upper)
Narrow pulse pressure
Vs
Wide pulse pressure
Narrow: tamponade (cardiac)
Wide: tension Pneumo, PDA
DTGA, triagnular face, cirotia, epicantha folds, smaller arm, macrocephaly
what maternal drug expsoure
Isotrtinoin.
