Diseases of infancy and childhood I Flashcards Preview

Year 1 Pathology > Diseases of infancy and childhood I > Flashcards

Flashcards in Diseases of infancy and childhood I Deck (26):
1

what percentage of congenital anomalies are unknown?

40-60%

2

what percentage of congenital abnormalities are of multifactorial etiology?

20-25%

3

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

25.7 (1)

4

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

16.9 (2)

5

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

10.9 (3)

6

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

9.1 (4)

7

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

acute megakaryoblastic leukemia

8

what is the incidence of Down syndrome?

1 in 700 births

9

what is the maternal age influence on Down syndrome?

meiotic nondisjunction in ovum

10

what is the inheritance of CF?

autosomal recessive

11

what is the incidence of CF in the US?

1 in 3200 live births

12

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

13

what is the most common mutation in CF?

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

14

what is the CFTR defect in sweat ducts? airway?

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

15

definition: neonate age

0-28 days

16

definition: term, preterm, post-term

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

17

definition: infant age

28 days - 1 year

18

definition: child age

1-17 years

19

definition: fetal growth restriction

fetal weight below 10th percentile for gestational age

20

what are fetal causes of fetal growth restriction?

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

21

what are placental causes of fetal growth restriction?

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

22

what are maternal causes of fetal growth restriction?

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

23

what are the causes of transplacental infections?

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

24

when does treponema pallidum cross the placenta?

5th month

25

when is congenital rubella syndrome acquired?

active maternal rubella infection during 1st trimester

26

what are the signs of congenital rubella syndrome?

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