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PPD II Ex.2 > Gomez Peds > Flashcards

Gomez Peds Flashcards

1
Q

Define: Embryo

A

implantation until completion of first 8 weeks

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2
Q

Define: Fetus

A

9 weeks to birth

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3
Q

Define: Neonatal

A

first 4 weeks after birth (MOST HAZARDOUS)

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4
Q

What is the most Hazardous Period of Infancy?

A

Neonatal

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5
Q

Define: Perinatal

A

5 months before birth to one month after birth

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6
Q

Define: Infancy

A

first year after birth

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7
Q

Define: Childhood

A

Between birth and puberty or legal adult age

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8
Q

_______ diseases account for a significant amount of morbidity and mortality

A

Perinatal

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9
Q

Causes Death in Children Younger than 1 year (3)

A
  • Congenital malformations, deformation, and chromosomal anomalies
  • disorders related to short gestation and low birth weight
  • SIDS = Most common Cause
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10
Q

What is the most common cause of death in children under the age of 1?

A

SIDS

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11
Q

Causes of death in children ages 1-4: (3)

A
  • accidents
  • congenital malformations, deformations, and chromosomal anomalies
  • Malignant neoplasms
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12
Q

Causes of Death in children ages 5-9: (2)

A
  • accidents

- Malignant Neoplasms

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13
Q

Causes of Death in children ages 10-14: (1)

A

Accidents

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14
Q

Define: Congenital Anomalies

A

Morphological defects present at Birth

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15
Q

Congenital Anomalies Characteristics (2)

A
  • diseases may not be EXPRESSED until later in life

- present in up to 3% of newborns

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16
Q

The most severe congenital anomalies cause….

A

Intrauterine death (blighted ovum or abortion)

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17
Q

Most common birth defect in the United States:

A

Bicuspid Aortic valve

2nd = down syndrome

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18
Q

Define: Malformations

A
  • disturbances in the morphogenesis (development) of an organ
  • Primary failure, intrinsically abnormal development = abnormal morphogenesis
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19
Q

Malformations are generally ___

A

mulitfactorial

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20
Q

Examples of Malformations (6)

A
  • anencephaly
  • congenital heart defects (acardia)
  • polydactyly
  • Syndactyly
  • cleft lip
  • holoprosencephaly
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21
Q

Define: Holoprosencephaly

A
  • malformation in which the midface structures are fused or ill-formed
  • severe and lethal
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22
Q

Define: disruption

A

Secondary destruction of a previously normal structure (extrinsic disturbance of normal morphogenesis)

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23
Q

Disruptions are not _____

A

Heritable

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24
Q

Examples of Disruptions

A

Amniotic bands

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25
Q

Define: Deformations

A

EXTRINSIC DISTURBANCE of development from abnormal biomechanical forces leading to structural abnormalities

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26
Q

Define: Sequence

A
  • a pattern of cascade abnormalities set off by one initiating aberration
  • also called a complex
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27
Q

Define: Malformation Syndrome

A
  • a constellation of congenital anomalies that are thought to be pathologically related which, unlike sequence, CANNOT BE EXPLAINED BY A SINGLE INITIATING EVENT
  • may also be called a complex
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28
Q

What factor causes Oligohydramnios (Potter) Sequence?

A

Renal agenesis (decreased amniotic fluid dt decreased fetal urine)

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29
Q

Characteristics of Potter Facies (4)

A
  • ocular hypertelorism
  • low set ears
  • receding chin
  • flattening of the nose
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30
Q

What are the TORCH diseases?

A
  • Toxoplasma
  • Other (T. Pallidum)
  • Rubella
  • Cytomegalovirus (CMV)
  • Herpes Simplex
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31
Q

Define: Agenesis

A

complete absence of an organ and primordium

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32
Q

Define: Aplasia

A

complete absence of an organ dt primordium development failure (but primordium is/was present, e.g. streak gonads)

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33
Q

Define: Atresia

A

absence of an opening usually in a hollow organ (trachea, intestines)

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34
Q

Define: dysplasia

A

abnormal organization of cells

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35
Q

Define: Omphalocele

A

abdominal musculature fails to form

36
Q

Define: Gastoschisis

A

Part of the abdominal wall fails to form

37
Q

Example of Agenesis

A

Renal Agenesis

38
Q

Example of Hypoplasia

A

Pulmonary Hypoplasia

39
Q

The cause of most congenital anomalies in Humans is____

A

unknown

40
Q

What is the worst time to be exposed to a teratogen?

A

Weeks 4-5 of the embryonic period

41
Q

Congenital heart Defects are dt teratogen exposure within _______

A

the first 6 weeks of development

42
Q

Teratogen exposure in the first 3 weeks can lead to ______

A

lethal injury or spontaneous abortion

43
Q

Rubella Embryopathy = ?

A

tetrad of cataracts, deafness, heart defects, and mental retardation

44
Q

Worst viral Torch?

A

Rubella in the first trimester

45
Q

When does CMV commonly occur and what does it effect?

A
  • 2nd trimester

- CNS, more neuro issues and less heart issues compared to rubella

46
Q

Valproic acid (antiepileptic drug) disrupts ____

A

HOX genes

47
Q

Fetal Alcohol Syndrome Characteristics (4)

A
  • “Native american”
  • metal retardation
  • growth retardation
  • atrial defects
48
Q

Facial Features of Fetal Alcohol syndrome (4)

A
  • indistinct philtrum
  • thin upper lip
  • lower nasal bridge/ more space between eyes
  • maxillary hypoplasia
49
Q

Maternal diabetes can cause what (3) things in the baby?

A
  1. fetal macrosomnia
  2. hyperinsulinemai (diabetic embropathy)
  3. congenital heart defects
50
Q

Trauma from birth can cause what three things in the infant? And who is at a higher risk for getting them?

A
  1. caput succedaneum (scalp edema)
  2. cephalhematoma
  3. Intracranial Hemorrhages - major concern
    * large babies are at higher risk
51
Q

HOXD13 mutations cause?

A

syndactyly and polydactyly

52
Q

HOXA13 mutations cause?

A

hand-foot-genital problems

53
Q

Teratogens acting on HOX genes (2)

A
  1. Sodium Valproate

2. retinoic acid

54
Q

PAX2 mutations cause?

A

Renal-coloboma = developmental defects of the kidneys, eyes, ears, and brain

55
Q

PAX3 Mutations cause?

A

Waardenburg Syndrome = congenital pigment abnormalities and deafness

56
Q

PAX6 mutations cause?

A

Aniridia = congenital absence of the iris

57
Q

Simian Hand creases associated with?

A

Down Syndrome

58
Q

A premature or preterm baby is born before ___?

A

37 weeks

59
Q

A postmature or post-term baby is born after ___?

A

42 weeks

60
Q

ASA, SGA, and LGA stand for?

A

Appropriate, Small or large for gestational age

61
Q

Leading cause of premature delivery?

A

Premature rupture of placenta membranes

62
Q

PPROM vs PROM

A

PPROM = preterm rupture of membranes (fetus is under 37 weeks); lungs may not be developed

PROM = rupture after 37 weeks; low risk

63
Q

Common intrauterine infections cause by PROM (2)

A
  1. chorioamnionitis (membranes)

2. Funisitis (cord)

64
Q

Define placenta previa and what it can cause?

A
  • implantation in the lower part of the uterus

- can cause premature delivery

65
Q

Fetal causes of FGR (3) and how to ID it:

A
  1. chromosomal disorders
  2. Congenital anomolies
  3. TORCH infections
    * ID - baby will be small but SYMMETRICAL
66
Q

Placental causes of FGR and how to ID it:

A
  1. Uteroplacental Insufficiency: cord or placenta abnormalities
  2. post fertilization mutation (trisomy 7 only involving placenta)
    * asymmetrical presentation- big head
67
Q

Maternal Causes of FGR (2) :

A
  1. Hypertension

2. Hyper-coaguable states (SLE - antiphosphlipid antibodies)

68
Q

Neonatal Respiratory Distress Syndrome

a.k.a. Hyaline Membrane Disease Cause? and common in whom?

A
  • Deficiency of pulmonary surfactant

- common in preterm infants dt immature lungs

69
Q

Important components of surfactant (2)

A
  • Lecithin

- Hydrophobic SP-B & SP-C proteins (surface tension)

70
Q

What cells produce surfactant and when are they seen in development?

A
  • Mature type II pneumocytes

- 32 weeks gestation

71
Q

What is L/S ratio and what does it tell us?

A
  • Lecithin / Sphingomyelin ratio
  • Maturity of lungs:
    >2 = lungs mature
72
Q

An infant with hypothyroid or hyperinsulinemia will have____?

A

low surfactant levels

73
Q

Define Bronchopulmonary dysplasia

A
  • Alviolar hypoplasia and thickened cell walls

- The baby is born preterm while the lungs are in the sacular stage and the lungs stay in this stage

74
Q

Mechanism of Retrolental Fibroplasia

a.k.a. Retinopathy of Prematurity

A

Phase I: O2 therapy and hyperoxia → ↓VEGF → endothelial cell apoptosis

Phase II: Then relative hypoxia (room air) → ↑VEGF → angiogenesis (neovascularization)

75
Q

Necrotizing Enterocolitis (NEC) Presentation and how to test for it:

A
  • Baby is gassy after first oral meal dt intestinal ischemia
  • test: platelet activating factor is elevated in stool
76
Q

Germinal Matrix Hemorrhage

A

Subependymal (periventricular) hemorrhage that extends into ventricles and occurs in preterm infants

77
Q

Most likely cause of an infant developing sepsis within 7 days after birth:

A

Group B strep

78
Q

Kernicterus Mechanism and Prevention

A
  • caused by high levels of unconjugated bilirubin the deposits in the brain
  • prevention: UV lights breaks it down into dipyrroles
79
Q

Cause of Marasmus and protein levels in the blood

A
  • Caloric Deprivation

- normal protein levels in the blood

80
Q

Cause of Kwashiorkor and protein levels in the blood

A

Protein deprivation

-decreased protein levels in the blood leading to edema

81
Q

define Heterotopia

A

normal cells from a tissue type in the wrong place

82
Q

define harmartoma

A

over development of tissue normally present

83
Q

Nueroblastoma presentation, detection and histology

A
  • presents as an abdominal mass
  • secretes catecholamines therefore detectable in blood (VMA and HVA)
  • Homer-Wright pseudorossettes; Small blue cell tumor
84
Q

Retinoblastoma Cause and histology

A
  • germline or somatic mutation of the RB1 gene

- Flexner-Wintersteiner rosettes

85
Q

Nephroblastoma (Wilms Tumor) Histology

A

Triphasic histology-stromal, epithelial tubules and blastemal elements

PPD II Ex.2 (2 decks)

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