Diseases of infancy and childhood I Flashcards
what percentage of congenital anomalies are unknown?
40-60%
what percentage of congenital abnormalities are of multifactorial etiology?
20-25%
what is the frequency per 10,000 birth of clubfoot without CNS involvement?
25.7 (1)
what is the frequency per 10,000 birth of PDA?
16.9 (2)
what is the frequency per 10,000 birth of VSD?
10.9 (3)
what is the frequency per 10,000 birth of cleft lip with or without palate involvement?
9.1 (4)
what is the most common leukemia affecting patients with Down syndrome?
acute megakaryoblastic leukemia
what is the incidence of Down syndrome?
1 in 700 births
what is the maternal age influence on Down syndrome?
meiotic nondisjunction in ovum
what is the inheritance of CF?
autosomal recessive
what is the incidence of CF in the US?
1 in 3200 live births
what is the principle defect in CF?
defect in chloride ion channel transport resulting in high salt concentration in exocrine glands and viscous luminal fluid of respiratory, GI, and reproductive tracts
what is the most common mutation in CF?
deletion of 3 nucleotides coding for phenylalanine at amino acid position 508 (severe) - 70% of mutations
what is the CFTR defect in sweat ducts? airway?
- sweat ducts - chloride cannot be reabsorbed from lumen, so neither does sodium - salty sweat 2. airway - chloride cannot leave cell - water enters and cannot leave - dehydrated mucus
definition: neonate age
0-28 days
definition: term, preterm, post-term
- term: 38-42 weeks 2. preterm: less than 37 weeks 3. post term: greater than 42 weeks
definition: infant age
28 days - 1 year
definition: child age
1-17 years
definition: fetal growth restriction
fetal weight below 10th percentile for gestational age
what are fetal causes of fetal growth restriction?
chromosomal disorders, congenital malformations, infections (symmetric - all systems similarly affected)
what are placental causes of fetal growth restriction?
placenta anomalies, infection, confined mosaicism (asymmetric - disproportionate - brain spared)
what are maternal causes of fetal growth restriction?
preeclampsia, chronic hypertension, malnutrition, renal disease, drugs, smoking
what are the causes of transplacental infections?
TORCH - toxoplasmosis, other, rubella, CMV, herpes other - listeriosis, syphilis, HIV, HBV, parvo B19
when does treponema pallidum cross the placenta?
5th month
when is congenital rubella syndrome acquired?
active maternal rubella infection during 1st trimester
what are the signs of congenital rubella syndrome?
low birth weight, purpuric rash, small head size, heart defects, vision problems
