25: Childhood diseases I

Question 1

morphological defects that are present at birth

Answer 1

anomalies

• not just on genetic basis, can be cosmetic or functional

Question 2

most anomalies are..

Answer 2

of unknown origin (40-60%)

Question 3

top 4 congenital malformations in the US

Answer 3

clubfoot
patent ductus arteriosus
ventriular septal defect
cleft lip

Question 4

affected foot appears to have been rotated internally at the ankle

Answer 4

club foot

Question 5

neonate’s ductus arteriosus fails to close after birth

Answer 5

patent ductus arteriosus PDA

Question 6

a defect/hole in the ventricular septum

Answer 6

ventricular septal defect

Question 7

a cleft is a fissure or opening

Answer 7

cleft lip

Question 8

baby regurgitates at every feeding …

Answer 8

atresia

esophagus almost completely occluded demonstrated by endoscopic examination

Question 9

most common chromosmal disorder and is the leading cause of mental retardation in US

Answer 9

down syndrome

Question 10

10-20 fold increase in developing leukemia

Answer 10

down syndrome

most common is megakaryoblastic leukemia

• all have abnoramal immune response predisposing them to serious infections

Question 11

down syndrome patients over 40 will develop…

Answer 11

neurodegenerative changes characteristic of alzheimer disease

Question 12

at what age does maternal age increase incidence of DS

Answer 12

7X 40-44

13X 45+

Question 13

incidence of down syndrome

Answer 13

1 in 700 births

Question 14

genetic cause of trisomy 21

Answer 14

meiotic nondsjunction in the ovum

• robersonian translocation and mosaic type may also occur

Question 15

• epicanthic folds and flat facial profile
• simian crease
• predisposition to leukemia
• hypotonia
• gap between first and second toe
• intestinal stenosis

Answer 15

down syndrome

Question 16

flat facial profile

oblique palpebral fissures

epicanthal folds

simian crease

Answer 16

down syndrome

Question 17

what type of genetic disease is cystic fibrosis

Answer 17

autosomal recessive

Question 18

incidence of cystic fibrosis

Answer 18

1 in 3200

Question 19

principle defect of cystic fibrosis

Answer 19

epithelial chloride channel protein is defective resulting in high salt concentration exocrien glands and viscous luminal fluid of the respiratory tract, GI and reproductive tracts

Question 20

mutation affect both alleles of CFTR gene on chromosome

Answer 20

7q 31.2

cystic fibrosis

Question 21

most common cystic fibrosis mutation

Answer 21

deletion of 3 nucleotides coding for phenyalalanie at aa postion 508

Question 22

Cl movement in lumen of sweat duct v. airway

Answer 22

in sweat duct supposed to be going into the cells, in airway supposed to be going out of the cells

Question 23

• recurrent pulmonary infection
• cor pulmonae
• chronic pancreatitis
• meconium ileus
• sterility
• malabsorption

Answer 23

clinical features of cystic fibrosis

Question 24

define neonate

Answer 24

0-28 days

Question 25

define preterm

Question 26

define post term

Answer 26

> 42 weeks

Question 27

define term

Answer 27

38-42 weeks

Question 28

define infant

Answer 28

28 days - 1 yr

Question 29

define child

Answer 29

1 -17 yr

Question 30

APGAR score categories

Answer 30

``` color heart rate respiration reflex muscle tone ```

Question 31

color scoring 0-2

Answer 31

0- entirely blue 1- blue extremities 2- no cyanosis

Question 32

heart rate scoring 0-2

Answer 32

0- absent | 1- 100

Question 33

respiration scoring 0-2

Answer 33

absent - 0 weak or irregular 1 strong -2

Question 34

relfex scoring

Answer 34

absent -0 grimace or feeble cry -1 sneeze/cough or pulls away -2

Question 35

muscle tone scoring

Answer 35

none -0 some flexion -1 active movement -2

Question 36

when do you do the APGAR scoring?

Answer 36

at 5 min

Question 37

APGAR 0-1

Answer 37

50% chance of death

Question 38

APGAR 4

Answer 38

20 %

Question 39

APGAR >7

Answer 39

0%

Question 40

second most common cause of neonatal mortality

Answer 40

prematurity

Question 41

___% of infants are bron prematurely

Answer 41

prematurity

Question 42

prematurity signs

Answer 42

- small infat | -

Question 43

complications of prematurity

Answer 43

- hyaline membrane disease - necrotizing enterocolitis - spesis - intraventricular hemorrhage - developmental delay

Question 44

define fetal growth restriction

Answer 44

fetal weight that is below the 10th percentile for gestational age as determined through an ultrasound

Question 45

symmetric/ proportionate FGR

Answer 45

fetal causes -chromosomal, congenital malformations, infections

Question 46

asymmetric/ disproportionate FGR (brain spared)

Answer 46

placental causes - placental anomalies, infection, confined mosaicism

Question 47

maternal FGR causes

Answer 47

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

Question 48

baby of smoking pregnant woman ...

Answer 48

prematurity AND FGR (asymmetric with sparing of brain and head)

Question 49

fetal growth restriction complications

Answer 49

perinatal asphyxia meconium aspiration hypoglycemia polycythemia brian dysfunction hearing and visual impairment learning disability

Question 50

scalp swelling caused by the presence of the presenting part of the scalp against the dilating cervix during delivery

Answer 50

caput succedaneum

Question 51

TORCH transplacental infections

Answer 51

``` Toxoplasmosis Other Rubella Cytomegalovirus Herpesvirus ``` other: listeriosis, syphilis, HIV, HBV, Parvovirus B19

Question 52

in pregant syphilitc women stillbirth occurs in ____ and, of the infant carried to term, _____ have congenital syphillis

Answer 52

stillbirth- 1/3 congenital syphilis - 2/3 of carried to term

Question 53

when can treponema pallidum pass the placenta

Answer 53

5th month

Question 54

risk to fetus of developing syphilis after exposure is ....

Answer 54

40%

Question 55

mulberry molars

Answer 55

multiple rounded rudimentary enamel cusps on molars congenital syphilis

Question 56

hutchinsons incisors

Answer 56

notches on biting surfaces, smaller and more widely spaced than normal congenital syphilis

Question 57

a sharp anterior bowing of the tibia

Answer 57

saber shin congenital syphilis

Question 58

when is rubella virus infection in the mother dangerous to infant

Answer 58

first trimester 10% incidence of subsequent fetal infection

Question 59

abnormalities associated with congenital rubella syndrome

Answer 59

- low birth weight - purpuric rash - small head size - heart defects - visual problems