Chapter 10 Flashcards

1
Q

What are the time frames for infant and childhood development?

A
  1. Neonatal period: first 4 weeks of life
  2. Infancy: 1st year of life
  3. Toddler/preschool: 1-4 years
  4. School age: 5-14 years
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2
Q

In children younger than 1 (infants), what is the primary cause of death?

How does it change as the child ages?

A

1. Congenital malformation and chromosomal abnormalities.

  1. Premature bbs: Disorders d/t short gestation and low birth weight

3. Sudden infant death syndrome (SIDS)

*Respiratory distress of the newborn is another cause

As the child ages, it falls off off

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3
Q

In children 1-4 (toddler/preschool) what is the primary cause of death?

How does it change as the child ages?

What conditions start to show as a major cause of death?

A

1. Accidents

  1. Congenital malformations and chromo abnormalities - falls

accidents become and remain most common cause of death until 14.

malignant neoplasms become a common cause

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4
Q

Why do congenital malformation, which are anatomic defects present at birth, still are among the top causes of death until 14?

A

they may not be clinically apparaent until years later

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5
Q

In children 5-9, what is the primary cause of death?

How does it change as the child ages?

A

1. accidents

2. malignant neoplasms

3. congenital malformations

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6
Q

In children 10-14, what is the primary cause of death?

what do we see appear?

A
  1. accidents
  2. malignant neoplasms

3. SUICIDE

congenital malformation drops to number 5

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7
Q

Primary errors of morphogenesis (formation of orans), in which there is an intrinsically abnormal developmental process defines? (inherited

ex.

A

malformations

ex. cyclopsia

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8
Q

External event (secondary destuction) that affects an already well-developed organ.

Is it inherited?

Ex.

A

Disruption; not inherited

Ex. Amniotic band: rupture of amnion d/t “bands” that encircle, compress, or attach to parts of developing fetus

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9
Q

localized or generalized compression of the gorowing fetus by abnormal biochemical force.

“abnormal biomechanical forces”

A

deformations

Ex. endometrial tumors

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10
Q

What is the most common underlying factor for the development of deformations in newborns?

Example of common deformation seen in Potter sequence?

A

- Uterine constraint:size of fetus gets bigger than growth of uterus (35th-38th week)

  • Deformations are caused by abnormal biomechanical forces

- Club feet is deformation seen in Potter sequence

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11
Q

What is a squence?

A

cascade of anomalies triggered by 1 irritating event.

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12
Q

What is the classic example of a sequence?

Due to what and what abnormalities are produced?

A

(Potter) sequence

[amnoitic leak, renal agenesis/other]=> Decreased amniotic fluid (oligohydromnois]–> fetal compression=>

  • flattened facies
  • positional abnormalities of hands and feet;
  • dislocated hips;
  • hypoplastic lungs; al
  • so seen in amnion nodous
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13
Q

in potter sequence, what is the initiating aberration?

A

oligohydromias

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14
Q

What is often seen in Potters squence?

A

NODULES IN THE AMOIN

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15
Q

Malformations, disruptions, or deformations that set into motion secondary effects in other organs is known as?

A

sequence

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16
Q

are disruptions assx with a risk of recurrence in next pregnancies?

A

no bc not heritable

17
Q

Differentiate agenesis from aplasia

A
  • Agenesis: complete absence of an organ AND is associate primordium.
    • no primoridium => no organ
  • Aplasia: organ fails to grow from the EXISTING primordium.
    • primordium => no organ
18
Q

what is atresia?

A

absence of a opening

19
Q

________, __________, _________ are the 3 major categories of congenital abnormalities in humans.

A
  • 1. Genetic factors
  • 2. environmental
  • 3. multifactorial (20-25%
20
Q

What are the 2 most common genetic problems we see in congennital abnormalities and %

A

1. Chromosomal aberration (10-15%)

  1. Mendelian inheritance (2-10%)
21
Q

what are the most common causes of environemtal causes of congenital aanomliaes?

A
  1. Maternal and placenta linfection (2-3%
  2. Maternal disease states (6-8)

3 drugs /chemical (1)

  1. irradiation (1)
22
Q

______ is a major teratogen used in the treatment of acne.

A

retanoic acid

23
Q

thalidomide caues

A

limb malformations

24
Q

alochol during preg caues

A

FAS => growth retardation, microcephy, ASD, short palpebral fissures and maxillary hypoplasia

25
maternal smoking does what
**low birth rate** **increase risk of SIDS**
26
many ofcongenital anomalies that **cannot** be explained on the basis of a single, localized, initiating defect
Malformation syndrome
27
what is an example of a malformation syndrome?
diabetic embryopathy
28
What causes sudden infant death syndrome?
**-- no explanation even after autosopy**
29
* Most common **microbes** to cause congenital abnormalities during development
**TORCH** **toxoplasmosis, other, rubella, CMV, herpes/IVX**
30
What are the 2 general principles of developmental pathology?
1. TIMING of teratogen IMPORTANT 2. Terotogens and genetic defects can act on the SAME developmental pathways nad result in SIMILAR anomomlies
31
a. _____ (inhibits \_\_\_\_\_) and _____ mutations → h**oloprosencephaly** b. _____ (inhibits \_\_\_\_) and ____ mutations → **limb/vert/craniofacial issues** c. Excessive\_\_\_\_\_\_ (\_\_\_\_ deregulation) and ____ mutations → **cleft lip/palate**
a. Cycopamine (inhibits hedgehog) and hedghog mutations → holoprosencephaly b. valproix acid (inhibits HOX) and HOX mutations → limb/vert/craniofacial issues c. Excessive retanoid acid (TGF-B deregulation) and TGFB-3 mutations → cleft lip/palate
32
Major **morphological** abnormalities occur during which weeks of embryonic development? Between which weeks is the embryo extremely susceptible to **teratogenesis**? Peak sensitivity when?
**3-8 wk** ## Footnote 3-9 wks **4-5 wks**
33
**Teratogens** during the 4/5 weeks of gestation affect every body system except for the **\_\_\_\_\_\_\_\_\_\_\_\_\_\_\_** which begin to develop later
teeth palate genitalis
34
prematurity is when **2n**d most common cause of?
Less than 37 weeks neonatal mortality (1-4 weeks)
35
Infants born to mothers treated with **retinoic acid for severe acn**e have which predictable phenotype (**retinoic acid embryopathy**)?
**CNS** **Cardiac** **craniofascial defects (cleft lip and palate**
36
The craniofacial defects (cleft lip and palate) which result from retinoid acid embryopathy are a result of?
the TGF-B signaling pathway
37
What are the 4 risk factors associated with prematurity?
1) PPROM (before 37 weeks = most serious) - premature-preterm-rupture of member 2) Intrauterine infections (major cause) 3) Structural abnormalities (uterine, placental, and cervical) 4) Multiple gestations (twin pregnancy)