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
Define: Deformations
EXTRINSIC DISTURBANCE of development from abnormal biomechanical forces leading to structural abnormalities
26
Define: Sequence
- a pattern of cascade abnormalities set off by one initiating aberration - also called a complex
27
Define: Malformation Syndrome
- 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
28
What factor causes Oligohydramnios (Potter) Sequence?
Renal agenesis (decreased amniotic fluid dt decreased fetal urine)
29
Characteristics of Potter Facies (4)
- ocular hypertelorism - low set ears - receding chin - flattening of the nose
30
What are the TORCH diseases?
- Toxoplasma - Other (T. Pallidum) - Rubella - Cytomegalovirus (CMV) - Herpes Simplex
31
Define: Agenesis
complete absence of an organ and primordium
32
Define: Aplasia
complete absence of an organ dt primordium development failure (but primordium is/was present, e.g. streak gonads)
33
Define: Atresia
absence of an opening usually in a hollow organ (trachea, intestines)
34
Define: dysplasia
abnormal organization of cells
35
Define: Omphalocele
abdominal musculature fails to form
36
Define: Gastoschisis
Part of the abdominal wall fails to form
37
Example of Agenesis
Renal Agenesis
38
Example of Hypoplasia
Pulmonary Hypoplasia
39
The cause of most congenital anomalies in Humans is____
unknown
40
What is the worst time to be exposed to a teratogen?
Weeks 4-5 of the embryonic period
41
Congenital heart Defects are dt teratogen exposure within _______
the first 6 weeks of development
42
Teratogen exposure in the first 3 weeks can lead to ______
lethal injury or spontaneous abortion
43
Rubella Embryopathy = ?
tetrad of cataracts, deafness, heart defects, and mental retardation
44
Worst viral Torch?
Rubella in the first trimester
45
When does CMV commonly occur and what does it effect?
- 2nd trimester | - CNS, more neuro issues and less heart issues compared to rubella
46
Valproic acid (antiepileptic drug) disrupts ____
HOX genes
47
Fetal Alcohol Syndrome Characteristics (4)
- "Native american" - metal retardation - growth retardation - atrial defects
48
Facial Features of Fetal Alcohol syndrome (4)
- indistinct philtrum - thin upper lip - lower nasal bridge/ more space between eyes - maxillary hypoplasia
49
Maternal diabetes can cause what (3) things in the baby?
1. fetal macrosomnia 2. hyperinsulinemai (diabetic embropathy) 3. congenital heart defects
50
Trauma from birth can cause what three things in the infant? And who is at a higher risk for getting them?
1. caput succedaneum (scalp edema) 2. cephalhematoma 3. Intracranial Hemorrhages - major concern * large babies are at higher risk
51
HOXD13 mutations cause?
syndactyly and polydactyly
52
HOXA13 mutations cause?
hand-foot-genital problems
53
Teratogens acting on HOX genes (2)
1. Sodium Valproate | 2. retinoic acid
54
PAX2 mutations cause?
Renal-coloboma = developmental defects of the kidneys, eyes, ears, and brain
55
PAX3 Mutations cause?
Waardenburg Syndrome = congenital pigment abnormalities and deafness
56
PAX6 mutations cause?
Aniridia = congenital absence of the iris
57
Simian Hand creases associated with?
Down Syndrome
58
A premature or preterm baby is born before ___?
37 weeks
59
A postmature or post-term baby is born after ___?
42 weeks
60
ASA, SGA, and LGA stand for?
Appropriate, Small or large for gestational age
61
Leading cause of premature delivery?
Premature rupture of placenta membranes
62
PPROM vs PROM
PPROM = preterm rupture of membranes (fetus is under 37 weeks); lungs may not be developed PROM = rupture after 37 weeks; low risk
63
Common intrauterine infections cause by PROM (2)
1. chorioamnionitis (membranes) | 2. Funisitis (cord)
64
Define placenta previa and what it can cause?
- implantation in the lower part of the uterus | - can cause premature delivery
65
Fetal causes of FGR (3) and how to ID it:
1. chromosomal disorders 2. Congenital anomolies 3. TORCH infections * ID - baby will be small but SYMMETRICAL
66
Placental causes of FGR and how to ID it:
1. Uteroplacental Insufficiency: cord or placenta abnormalities 2. post fertilization mutation (trisomy 7 only involving placenta) * asymmetrical presentation- big head
67
Maternal Causes of FGR (2) :
1. Hypertension | 2. Hyper-coaguable states (SLE - antiphosphlipid antibodies)
68
Neonatal Respiratory Distress Syndrome | a.k.a. Hyaline Membrane Disease Cause? and common in whom?
- Deficiency of pulmonary surfactant | - common in preterm infants dt immature lungs
69
Important components of surfactant (2)
- Lecithin | - Hydrophobic SP-B & SP-C proteins (surface tension)
70
What cells produce surfactant and when are they seen in development?
- Mature type II pneumocytes | - 32 weeks gestation
71
What is L/S ratio and what does it tell us?
- Lecithin / Sphingomyelin ratio - Maturity of lungs: >2 = lungs mature
72
An infant with hypothyroid or hyperinsulinemia will have____?
low surfactant levels
73
Define Bronchopulmonary dysplasia
- 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
Mechanism of Retrolental Fibroplasia | a.k.a. Retinopathy of Prematurity
Phase I: O2 therapy and hyperoxia → ↓VEGF → endothelial cell apoptosis Phase II: Then relative hypoxia (room air) → ↑VEGF → angiogenesis (neovascularization)
75
Necrotizing Enterocolitis (NEC) Presentation and how to test for it:
- Baby is gassy after first oral meal dt intestinal ischemia - test: platelet activating factor is elevated in stool
76
Germinal Matrix Hemorrhage
Subependymal (periventricular) hemorrhage that extends into ventricles and occurs in preterm infants
77
Most likely cause of an infant developing sepsis within 7 days after birth:
Group B strep
78
Kernicterus Mechanism and Prevention
- caused by high levels of unconjugated bilirubin the deposits in the brain - prevention: UV lights breaks it down into dipyrroles
79
Cause of Marasmus and protein levels in the blood
- Caloric Deprivation | - normal protein levels in the blood
80
Cause of Kwashiorkor and protein levels in the blood
Protein deprivation | -decreased protein levels in the blood leading to edema
81
define Heterotopia
normal cells from a tissue type in the wrong place
82
define harmartoma
over development of tissue normally present
83
Nueroblastoma presentation, detection and histology
- presents as an abdominal mass - secretes catecholamines therefore detectable in blood (VMA and HVA) - Homer-Wright pseudorossettes; Small blue cell tumor
84
Retinoblastoma Cause and histology
- germline or somatic mutation of the RB1 gene | - Flexner-Wintersteiner rosettes
85
Nephroblastoma (Wilms Tumor) Histology
Triphasic histology-stromal, epithelial tubules and blastemal elements