Diseases of infancy and childhood I

Question 1

what percentage of congenital anomalies are unknown?

Answer 1

40-60%

Question 2

what percentage of congenital abnormalities are of multifactorial etiology?

Answer 2

20-25%

Question 3

what is the frequency per 10,000 birth of clubfoot without CNS involvement?

Answer 3

25.7 (1)

Question 4

what is the frequency per 10,000 birth of PDA?

Answer 4

16.9 (2)

Question 5

what is the frequency per 10,000 birth of VSD?

Answer 5

10.9 (3)

Question 6

what is the frequency per 10,000 birth of cleft lip with or without palate involvement?

Answer 6

9.1 (4)

Question 7

what is the most common leukemia affecting patients with Down syndrome?

Answer 7

acute megakaryoblastic leukemia

Question 8

what is the incidence of Down syndrome?

Answer 8

1 in 700 births

Question 9

what is the maternal age influence on Down syndrome?

Answer 9

meiotic nondisjunction in ovum

Question 10

what is the inheritance of CF?

Answer 10

autosomal recessive

Question 11

what is the incidence of CF in the US?

Answer 11

1 in 3200 live births

Question 12

what is the principle defect in CF?

Answer 12

defect in chloride ion channel transport resulting in high salt concentration in exocrine glands and viscous luminal fluid of respiratory, GI, and reproductive tracts

Question 13

what is the most common mutation in CF?

Answer 13

deletion of 3 nucleotides coding for phenylalanine at amino acid position 508 (severe) - 70% of mutations

Question 14

what is the CFTR defect in sweat ducts? airway?

Answer 14

1. 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

Question 15

definition: neonate age

Answer 15

0-28 days

Question 16

definition: term, preterm, post-term

Answer 16

1. term: 38-42 weeks 2. preterm: less than 37 weeks 3. post term: greater than 42 weeks

Question 17

definition: infant age

Answer 17

28 days - 1 year

Question 18

definition: child age

Answer 18

1-17 years

Question 19

definition: fetal growth restriction

Answer 19

fetal weight below 10th percentile for gestational age

Question 20

what are fetal causes of fetal growth restriction?

Answer 20

chromosomal disorders, congenital malformations, infections (symmetric - all systems similarly affected)

Question 21

what are placental causes of fetal growth restriction?

Answer 21

placenta anomalies, infection, confined mosaicism (asymmetric - disproportionate - brain spared)

Question 22

what are maternal causes of fetal growth restriction?

Answer 22

preeclampsia, chronic hypertension, malnutrition, renal disease, drugs, smoking

Question 23

what are the causes of transplacental infections?

Answer 23

TORCH - toxoplasmosis, other, rubella, CMV, herpes other - listeriosis, syphilis, HIV, HBV, parvo B19

Question 24

when does treponema pallidum cross the placenta?

Answer 24

5th month

Question 25

when is congenital rubella syndrome acquired?

Answer 25

active maternal rubella infection during 1st trimester

Question 26

what are the signs of congenital rubella syndrome?

Answer 26

low birth weight, purpuric rash, small head size, heart defects, vision problems