Childhood disease I Flashcards
1
Q
What are the karyotypes of Down syndrome
A
- Trisomy 21 (95%) = 47,XX,+21 (meiotic nondisjunction in the ovum)
- Translocation type (4%) = 46,XX(14;21)(q10;q10), +21 (extra 21 components)
- Mosaic type (1%) = 46,XX/47,XX,+21
- -> mixture of cell some containing 46 and others containing 47 chromosomes (mitotic nondisjunction of chromosome 21 during early stage of embryogenesis)
2
Q
what are the physical characteristics
***
A
- flat facial profile: a somewhat depressed nasal bridge and a small nose
- oblique palpebral fissues: upward slant of eyes
- epicanthal folds, small skin folds on the inner corner of the eyes
- Simian Crease = single crease across the centre of palm
- congenital heart defects
- intestinal stenosis
- Gap between first and second toes!
3
Q
Describe Cystic fibrosis
A
- mutation affecting both alleles of CF transmembrane conductance regulator (CFTR) gene on chromosome 7q 31.2
- leads to deletion of 3 nucleotide coding for phenylalanine at amino acid position 508
4
Q
what does cystic fibrosis cause
A
- autosomal recessive disease
- 1 in 3200 live births
- defect of epithelial chloride channel protein resulting in high salt concentrations exocrine glands and viscous luminal fluid of the respiratory tract, GT and reproductive tract
- Measure hypertonic sweat as part of diagnosis (increase sodium and chloride)
5
Q
what are some complications of premature baby
A
- hyaline membrane disease
- necrotizing enterocolitis
- sepsis
- intraventricular hemorrhage
- developmental delay
6
Q
what are the risk factors of prematurity
A
- preterm premature rupture of membranes (PPROM); smoking, previous preterm delivery, vaginal bleeding
- intrauterine infection
- abnormal uterus, cervix or placenta
- multiple gestation
7
Q
describe fetal growth restriction
A
- fetal weight that is below the 10th percentile for gestational age as determined through an ultrasound
8
Q
describe congenital syphilis
A
- in pregnant syphilitic women STILLBIRTH occurs 1/3 and infants carried to term, 2/3 have congenital syphilis
- -> Treponema pallidum (a spirochete) is the causative agent
- *DO NOT TOUCH BABY = HIGHLY INFECTIOUS**
9
Q
what are the complications of fetal growth restriction
A
- perinatal asphyxia
- meconium aspiration
- hypoglycemia
- polycythemia
- brain dysfunction
- hearing and visual impairment
- learning disability
10
Q
what are the leading malformations
A
1) clubfoot (25%)
2) patent ductus arteriosus (17%)
3) ventricular septal defect (10%)
4) cleft lip (10%)
11
Q
define clubfoot
A
- affected foot appears to have been rotated internally at the ankle
12
Q
Patent ductus arteriosus
A
neonates ductus arteriosus fails to close after birth
13
Q
ventricular septal defect
A
- a defect (hole) in the ventricular septum
14
Q
cleft lip
A
- a cleft is a fissure or opening in the lip or palate
15
Q
what are some clinical features of Cystic fibrosis
A
- chronic pancreatitis
- abnormal sweat electrolytes
- malabsorption
- obstructed vas deferens (sterile)
- recurrent pulmonary infections (lung abscess, chronic bronchitits, etc)
