Diseases of Infancy and Childhood I Flashcards

1
Q

exam

A

8 brandau

rest is 1/3 each from everything else

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2
Q

neonatal period

A

first 4 weeks

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3
Q

infancy

A

first year of life

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4
Q

four time spans of development

A

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

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5
Q

leading causes of death in first 1 year of life

A

congenital anomalies
prematurity
SIDS

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6
Q

leading cause of death 1 - 14 years

A

accidents

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7
Q

leading cause of childhood deaths

A

malnutrition
infections
emerginy disease

rates higher in africa than europe and US

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8
Q

10ug/mL of Pb in children

A

development toxicity

  • decreased IQ
  • decreased hearing
  • decreased grwoth

10x this causes death

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9
Q

microcytic anemia

A

iron

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10
Q

macrocytic anemia

A

B and folate

pernicious anemia

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11
Q

basophilic stippling

A

lead intoxication

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12
Q

lead intoxication in adults

A
  • basophilic stipling in RBCs (blue dotted cells)
  • peripheral demyelination neuropathy
  • microcytic hypochromic anemia
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13
Q

evolution and diet

A

chronic inflammation - sugars

recommend - high fat and high protein diet

gluten is bad - sugar

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14
Q

congenital anomaly

A

morph defect present at birth

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15
Q

malformation

A

error of morphogenesis - intrinsic abnormal development

usually multifactorial cause

ex/ cleft palate, cleft lip, polydactylyl, syndactylyl

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16
Q

disruption

A

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

ex/ amniotic band

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17
Q

amniotic band

A

disruption

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18
Q

deformation

A

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

ex/ uterine constraint

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19
Q

sequence

A

cascade of anomalies trigered by initiating aberration

ex. potter sequence

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20
Q

potter sequence

A

oligohydroamnios

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21
Q

perinate

A

around time of birth

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22
Q

neonate

A

first 4 weeks after delivery

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23
Q

infant mortality

A

has declined in US

-but not in all ethnic groups

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24
Q

SIDS diagnosis

A

need to be under 1 year old

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25
Q

rubella

A

early infection

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26
Q

cytomegalovirus

A

second trimester

-later infection

27
Q

common neoplasm in children

A

B cell ALL

leukemia

28
Q

maternal factors

A

first pregnancy
small uterus
bicornuate uterus
leiomyoma

29
Q

fetal or placental factors

A

oligohydramnios
multiple fetuses
abnormal fetal presentation

30
Q

causes of oligohydramnios

A

leak of amniotic fluid
maternal HTN
renal agenesis

31
Q

presentation of potters

A
flattened facies
position abnormal
dislocated hips
pulmonary hypoplasia
amnion nodusum
32
Q

syndrome

A

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

33
Q

agenesis

A

complete absence of organ with associated absence of its primordium

34
Q

aplasia

A

absence of organ due to failure of development of primordium

35
Q

atresia

A

absence of an opening

36
Q

most common development defect of forebrain and midface in humans

A

holoprosencephaly

37
Q

single gene mutations leading to congenital anomalies

A

autosomal dominant or recessive 90%

remainder X-linked

many are loss of function mutations

ex. holoprosencephaly - loss of function in hedgehog pathway

38
Q

achondroplasia

A

short limb dwarfism

gain of function
FGFR3

39
Q

diabetic mothers

A

large babies

40
Q

rubella

A

risk period is conception to 16th week (greater in first 8 weeks)

tetrad - cataracts, heart defects, deafness, retardation

congenital rubella syndrome**

41
Q

cytomegalovirus

A

infection during second trimester

-mental retardation, microcephaly, deafness, hepatosplenomegaly

42
Q

organogenesis

A

during first 9 weeks

43
Q

drugs causing congenital malformations

A

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

44
Q

thalidomide

A

tranqulizer that causes congenital abnormalities

  • limb abnormalities
  • downregualtion WNT signaling by increasing WNT repressors
45
Q

FAS

A

fetal alcohol syndrome

growth retardation
microcephaly
atrial septal defect
short palpebral fissures
maxillary hypoplasia

disrupts retinoic acid and hedgehog

46
Q

maternal diabetes

A

leads to fetal hyperinsulinemia

  • increased fat, muscle mass, and organomegaly (fetal macrosomia)
  • cardiac anomalies, neural tube defects, CNS malformations
47
Q

fetal macrosomia

A

organomegaly from maternal diabetes

48
Q

embryonic period

A

first 9 weeks

49
Q

fetal period

A

9 weeks to birth

50
Q

high susceptiblity to teratogenesis

A

week 3-9

peak sensitivity - week 4-5

51
Q

cyclopamine

A

inhibit hedgehog pathway

holoprosencephaly

52
Q

valproic acid

A

anti-epileptic
-teratogen

  • disrupts HOX genes
  • abnormal limbs, vertebrae, craniofacial structures
53
Q

vit A deficiency during pregnancy

A

malformed eyes, GU, cardiovascular, diaphragm, lung

54
Q

vit A excess during pregnancy

A

CNS, cardiac, craniofacial defects

  • cleft lip
  • cleft palate

TGF-beta signaling defect

55
Q

preterm

A

before 37 weeks

56
Q

normal pregnancy

A

38-40 weeks

-266-280 days

57
Q

appropriate for gestational age

A

AGA

-10th to 90th percentile

58
Q

post term

A

born after 42nd week

59
Q

prematurity

A

before 37 weeks
-second most common cause of neonatal mortality

first - congenital anomalies

60
Q

PPROM

A

preterm premature rupture of placental membranes
-occurs before 37 weeks

risk factor of prematurity

61
Q

major cause of preterm labor

A

infections**

chorioamnionitis and funisitis

62
Q

funisitis

A

inflamed umbilical cord

63
Q

chorioamnionitis

A

inflamed placental membrane

64
Q

common intrauterine infections

A

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