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55 Cards in this Set

  • Front
  • Back
Poor growth cause by underlying medical conditions?

Name 3 examples
Organic FTT

IBD, Renal disease, congenital heart conditions
How much food do infants need in the first year of life?

After the first year?

How much to catch up from FTT?
120 kcal/kg/day

100 kcal/kg/day

Additional 50-100%
FTT c low bicarb. and acidotic urine

Tx?
Renal tubular acidosis

Oral bicarbonate supplementation
infant c developmental delay, intrauterine growth retardation (including microcephaly), cataracts, seizures, hepatosplenomegaly, prolonged neonate jaundice, and purpura at birth

CT findings?
CMV or toxoplasmosis infection

CMV - Calcified brain densities of CMZ in periventricular pattern

Toxo - throughout the cortex
When do kids go through "picky eater" phase?
18-30 months
What recreational drug is associate with nystagmus?
PCP
Incidence of down syndrome?
35 = 1:400
40 = 1:100
45 = 1:10
What does a triple screen measure and when should one do it?

Sensitivity?
AFP, hCG, estriol

15-20 weeks

60% of DS, and
90% neural tube defects are detected
What are the 2 major complications of infants with Down Syndrome?

Frequency?
50% c cardiac defects
60% endocardial cushion, 30%VSD, Tetralogy of Fallot 5%

12% c intestinal atresia (usually duodenal) "double bubble sign"
MAO of Down syndrome
95% nondysjunction, or failure of chromosomal migration

Others are Translocation or Mosaics
How is HIV transmitted to infants?
Vertical Transmission
How do you dx HIV in child <18months? Why?
HIV PCR, bc of maternal antigen
How do you dx HIV in ages >18 months?
HIV antibody ELISA and subsequent Western blot for comfirmation
Tx for infant of HIV + mother? (2)
Zidovudine 6 weeks of prophylaxis started in first few hours of life

TMP SMZ for PCP prophylaxis at 6weeks of age if infant is HIV +
What immunizations does one avoid c HIV+ infants?
Live Attenuated

ex. MMR, Varicella
What sign and sx would lead one to expect LAD? (leukocyte adhesion defiency) (2)
neutrophilia

intact umbilical cord
Boot shaped heart and thyroid aplasia?
MAO?
DiGeorge Syndrome 22q11 microdeletion
Best diagnostic test for Fragile X?
DNA analysis showing expanded Xq27.3 (distal long arm???)
Breast milk contains high concentrations of what Ig?
IgA
3 disadvantages of human breast milk?
1. HIV transmitting
2. Jaundice exacerbation due to inc. uncon. bilirubin
3. Low Vit K level - contributes to hemorrhagic disease of newborns
Define these
fancone, edwards, patua
What kind of milk for infant with PKU?
low in phenyalanine
Mothers and infants that are vegan need what supplement?
B12
Breastfeeding is associated with a lower incidence of what?
Diarrhea, reduction of enteric pathogens
What test is need for Vitamins KADE def?

S/S?
Sweat test for CF

K - bleeding probs, A - fontanelle fullness, E - hemolytic anemia
Which immunizations are CI c egg allergy?
Yellow Fever, Influenza

Yellow, Flu, Egg
What vaccines are CI in immunosupressed (except assymptomatic HIV) and pregnancy
Live vaccine:
Name common flu:
neonate
6 week
toddler
adolescent
neonate - GBS
6 week - chlamydia
toddler - RSV
adolescent - Mycoplasma
Common test for C. trachomatis, N. gonorrhoeae
Nucleic acid amplification test (naat)
followed by definitive culture
Genetic finding in CF?
Long arm of Ch 7
MC single phenylalanine deletion at AA 508
What is meconium ileus?

It is almost always ass. c what?

TX?
insipissated meconium obstructing the distal ileum

CF

Surgical emergency
How can CF cause bulging fontanelles?
Vit A def resulting in pseudotumor cerebri
What are two types of FTT and what is the difference?
Nonorganic FTT - poor growth s medical etiology. 33% of cases. Related to poverty, poor mom-baby relationship

Organic - caused by underlying medical reason
MC workup for FTT?
CBC
lead lvl
UA and culture
Serum e- (Ca, BUN, Cr)
MC presentation of adolescent new onset behavior change declining grades, depression, problems c law?
Drug abuse
What drug causes hypersalivation, nystagmus, inc. verbal swearing?
pcp (phencyclidine)
What is the dif. bt association, syndrome, sequence?
association - features of an unknown cause with higher freq. than expected

Syndrome - constellation of features c common cause

sequence - single defect c subsequent abnormalities
What is the association, VATER?
Vertebral, Anal, Trachea, Esophageal, Radius/Renal
Presentation of duodenal atresia? Association?
(10% complication of DS)
polyhydramnios
persistent bilious vomiting after feeding
"double bubble" XR
Other newborn complication of DS?
hearing loss, strabismus, cataracts, congenital hypothyriodism, cervical vertebrae instability,
Low set, malformed ears, microcephaly, rocker bottom feet, inguinal hernias, cleft lip/palate, micrognathia?
trisomy 18, Edward's Syndrome
Microcephaly, sloping forehead, cutis aplasia (missing portion of hair/skin) of scalp, polydactlyl, microphthalmia (small eye), omphalocele?
trisomy 13, Patau syndrome
What is vertical transmission?
Vertical transmission, also known as Mother-to-child transmission refers to transmission of an infection, such as HIV, hepatitis B, or hepatitis C, from mother to child during the perinatal period, the period immediately before and after birth. It is a term also used in population genetics to describe inheritance of an allele or condition from either the father or mother.
In AIDs, what amt. of RNA is ass. c worse outcome?
RNA >100,000/mL
What are the types of HIV drugs?
pg 62
SCID has what type of inheritance?
x-linked or AR
What is Leukocyte adhesion disorder?
d/o of leukocyte chemotaxis and adherence, recurrent infections c delayed wound healing (cord still attached)
What is the MC inheritable form of MR and what is the incidence?

Typical IQ range?
Fragile X, Xq27.3, 1 in 2000

30-55
What would be a concern of a baby drinking only goat's milk? (3)
Megablastic anemia from folate or B12 def.
Low in Iron, Vit D, Vit K
Brucellosis if milk is unpasteurized
Which Ig is high conc. in breast milk?
IgA
What is methylmalonic acidemia and what is given to prevent it?
Infant dev. from vegan mom's - an aa d/o involving a defect in the conversion of mm CoA to succinyl CoA

B12
What race is rickets more common? Why?
Blacks, less converstion of Vit D
8 mo old c chronic biliary atresia, poor bone mineralization, and a fracture
ricketts
Best dx test for rickets?
serum 25(OH) vit d?