Diseases of Infancy and Childhood I

Question 1

exam

Answer 1

8 brandau

rest is 1/3 each from everything else

Question 2

neonatal period

Answer 2

first 4 weeks

Question 3

infancy

Answer 3

first year of life

Question 4

four time spans of development

Answer 4

neonatal - first 4 weeks
infant - first 1 year
age 1-4
age 5-14

Question 5

leading causes of death in first 1 year of life

Answer 5

congenital anomalies
prematurity
SIDS

Question 6

leading cause of death 1 - 14 years

Answer 6

accidents

Question 7

leading cause of childhood deaths

Answer 7

malnutrition
infections
emerginy disease

rates higher in africa than europe and US

Question 8

10ug/mL of Pb in children

Answer 8

development toxicity

• decreased IQ
• decreased hearing
• decreased grwoth

10x this causes death

Question 9

microcytic anemia

Answer 9

iron

Question 10

macrocytic anemia

Answer 10

B and folate

pernicious anemia

Question 11

basophilic stippling

Answer 11

lead intoxication

Question 12

lead intoxication in adults

Answer 12

• basophilic stipling in RBCs (blue dotted cells)
• peripheral demyelination neuropathy
• microcytic hypochromic anemia

Question 13

evolution and diet

Answer 13

chronic inflammation - sugars

recommend - high fat and high protein diet

gluten is bad - sugar

Question 14

congenital anomaly

Answer 14

morph defect present at birth

Question 15

malformation

Answer 15

error of morphogenesis - intrinsic abnormal development

usually multifactorial cause

ex/ cleft palate, cleft lip, polydactylyl, syndactylyl

Question 16

disruption

Answer 16

secondary destruction of organ or body region that was previously normal in development

ex/ amniotic band

Question 17

amniotic band

Answer 17

disruption

Question 18

deformation

Answer 18

extrinsic disturbance in development
-localized or generalized compression of fetus by abnormal biomechanical forces

ex/ uterine constraint

Question 19

sequence

Answer 19

cascade of anomalies trigered by initiating aberration

ex. potter sequence

Question 20

potter sequence

Answer 20

oligohydroamnios

Question 21

perinate

Answer 21

around time of birth

Question 22

neonate

Answer 22

first 4 weeks after delivery

Question 23

infant mortality

Answer 23

has declined in US

-but not in all ethnic groups

Question 24

SIDS diagnosis

Answer 24

need to be under 1 year old

Question 25

rubella

Answer 25

early infection

Question 26

cytomegalovirus

Answer 26

second trimester | -later infection

Question 27

common neoplasm in children

Answer 27

B cell ALL leukemia

Question 28

maternal factors

Answer 28

first pregnancy small uterus bicornuate uterus leiomyoma

Question 29

fetal or placental factors

Answer 29

oligohydramnios multiple fetuses abnormal fetal presentation

Question 30

causes of oligohydramnios

Answer 30

leak of amniotic fluid maternal HTN renal agenesis

Question 31

presentation of potters

Answer 31

``` flattened facies position abnormal dislocated hips pulmonary hypoplasia amnion nodusum ```

Question 32

syndrome

Answer 32

constellation of congenital anomalies that cannot be explained by single initiating defecdt

Question 33

agenesis

Answer 33

complete absence of organ with associated absence of its primordium

Question 34

aplasia

Answer 34

absence of organ due to failure of development of primordium

Question 35

atresia

Answer 35

absence of an opening

Question 36

most common development defect of forebrain and midface in humans

Answer 36

holoprosencephaly

Question 37

single gene mutations leading to congenital anomalies

Answer 37

autosomal dominant or recessive 90% remainder X-linked many are loss of function mutations ex. holoprosencephaly - loss of function in hedgehog pathway

Question 38

achondroplasia

Answer 38

short limb dwarfism gain of function FGFR3

Question 39

diabetic mothers

Answer 39

large babies

Question 40

rubella

Answer 40

risk period is conception to 16th week (greater in first 8 weeks) tetrad - cataracts, heart defects, deafness, retardation congenital rubella syndrome**

Question 41

cytomegalovirus

Answer 41

infection during second trimester -mental retardation, microcephaly, deafness, hepatosplenomegaly

Question 42

organogenesis

Answer 42

during first 9 weeks

Question 43

drugs causing congenital malformations

Answer 43

thalidomide, folate antagonists, androgen hormones, alcohol, anticonvulsants, warfarin, 13-cis-retinoic acid

Question 44

thalidomide

Answer 44

tranqulizer that causes congenital abnormalities - limb abnormalities - downregualtion WNT signaling by increasing WNT repressors

Question 45

FAS

Answer 45

fetal alcohol syndrome ``` growth retardation microcephaly atrial septal defect short palpebral fissures maxillary hypoplasia ``` disrupts retinoic acid and hedgehog

Question 46

maternal diabetes

Answer 46

leads to fetal hyperinsulinemia - increased fat, muscle mass, and organomegaly (fetal macrosomia) - cardiac anomalies, neural tube defects, CNS malformations

Question 47

fetal macrosomia

Answer 47

organomegaly from maternal diabetes

Question 48

embryonic period

Answer 48

first 9 weeks

Question 49

fetal period

Answer 49

9 weeks to birth

Question 50

high susceptiblity to teratogenesis

Answer 50

week 3-9 peak sensitivity - week 4-5

Question 51

cyclopamine

Answer 51

inhibit hedgehog pathway holoprosencephaly

Question 52

valproic acid

Answer 52

anti-epileptic -teratogen - disrupts HOX genes - abnormal limbs, vertebrae, craniofacial structures

Question 53

vit A deficiency during pregnancy

Answer 53

malformed eyes, GU, cardiovascular, diaphragm, lung

Question 54

vit A excess during pregnancy

Answer 54

CNS, cardiac, craniofacial defects - cleft lip - cleft palate TGF-beta signaling defect

Question 55

preterm

Answer 55

before 37 weeks

Question 56

normal pregnancy

Answer 56

38-40 weeks | -266-280 days

Question 57

appropriate for gestational age

Answer 57

AGA | -10th to 90th percentile

Question 58

post term

Answer 58

born after 42nd week

Question 59

prematurity

Answer 59

before 37 weeks -second most common cause of neonatal mortality first - congenital anomalies

Question 60

PPROM

Answer 60

preterm premature rupture of placental membranes -occurs before 37 weeks risk factor of prematurity

Question 61

major cause of preterm labor

Answer 61

infections** chorioamnionitis and funisitis

Question 62

funisitis

Answer 62

inflamed umbilical cord

Question 63

chorioamnionitis

Answer 63

inflamed placental membrane

Question 64

common intrauterine infections

Answer 64

ureaplasma urealyticum, mycoplasma hominis, gardnerella vaginalis, trichomonas, gonorrhea, chlamydia