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Pathophysiology > Congentital and Childhood Disorders > Flashcards

Congentital and Childhood Disorders Flashcards

1
Q

What trimester is the most critical for development?

A

First trimester

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2
Q

What occurs in the first trimester?

A
  • Cell differentiation

- Brain, spinal cord, organ development, arms legs, eyes, and genital development

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3
Q

What controls embryonic development?

A

DNA

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4
Q

What occurs in the 2nd trimester?

A
  • Rapid growth
  • Differentiation
  • Maturation of body tissues and organs
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5
Q

What occurs in the third trimester?

A
  • Nervous system begins regulating the body tissues and organs
  • Respiratory system matures
  • Sexual development is completed
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6
Q

Excessive mutation can cause…

A

Spontaneous Abortion

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7
Q

When and what are the important nutrients needed for development and when are they essential

A
  • Folic acid

- Essential during the first trimester

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8
Q

If you lack folic acid, what are its effects?

A

Effects the neural tube and can lead to spina bifida

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9
Q

This is any agent capable of causing a congential fetal abnormaility

A

Teratogen

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10
Q

What are the common tetatogens?

A
  • Alcohol (MOST COMMON)
  • Drugs
  • Viral infections
  • Toxins
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11
Q

This is any abnormality present at birth

A

Congential Defect

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12
Q

When do most birth defects occur and why?

A

Occur in the embryonic period (the first 8 weeks) because this is when the fetus is most vulnerable

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13
Q

What are common causes of birth defcts?

A
  • Mechanical factors
  • Genetic Factors
  • Environmental factors
  • Multifactorial
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14
Q

This is caused by maternal mechanical factors that distort the fetus

A

Congential Deformations

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15
Q

These are fetal defects due to genetic factors that interfere with the process of cell division

A

Congential malformations

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16
Q

What is an example of mechanical defect

A

Club Foot

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17
Q

Describe club foot

A
  • Twisting inward or outward of the foot so that the sole is not on the ground
  • Due to malformation of the uterus
  • Multiple pregnancies
  • Decreased amniotic fluid
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18
Q

What is the most common chemical/drug that effects the fetus? and how does it work?

A

Alcohol

  • Alcohol is water soluble so it crosses the placenta and causes a negative effect
  • Results in fetal alcohol syndrome
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19
Q

What are the effects of fetal alcohol syndrome?

A
  • Thin upper lip
  • Wide set eyes
  • Intrauterine growth restriction
  • Short eye syndrome
  • Mental deficiency
20
Q

What are the classes of drugs for pregnant women, what are their significance, and what is an example?

A

Classes of drugs= A, B, C, X

  • Classes are descriptive for whether they are safe for pregnant women
  • C drugs= mostly haven’t been tested yet
  • Coumadin= teratogenic
21
Q

Again, what is folic acid and B12 important for?

A

Development of the nueral tube (incases the spinal cord)

22
Q

What are the 3 types of Spina bifida?

A
  • Spina bifida occulta
  • Spina bifida with meningocele
  • Spina bifida with myelomeningocele
23
Q

Describe spina bifida occulta?

A
  • Mild
  • Small Non closure of vertebral arch
  • S&S= dimple, tuft of hair, hyperpigmentation in the lower lumbar region
24
Q

Describe spina bifida with meningocele

A
  • The meninges and CSF protrude through the deficit
  • Large deficit
  • Causes a cystic nature
25
Q

Describe spina bifida with myelomeningocele

A
  • When the spinal cord, meninges, and CSF protrude through the deficit
  • Huge deficit in the vertebral arch
  • Causes extreme harm
  • Can lead to paraylzation
  • Can become incontinent because the nerves that go to the bladder don’t work
26
Q

What is vitamin A used for in development

A

Formation of…

  • Heart
  • Limbs
  • Eyes
  • Ears
27
Q

How does ionizing radiation cause birth defects?

A

Effects the germ cells of the mother (ova) or the developing fetus and result in damaging DNA
-Damaged germ cells=defective baby

28
Q

What is the name of the group that is the most common cause of microbe related teratogens

A 
TORCH teratogens
T=Toxoplasmosis
O=Other (syphilis, hep B, AIDS)
R=rubella
C=cytomegalovirus 
H=Herpes
29
Q

What are S&S of TORCH syndrome?

A 
-Small skull
Mental retardation
-Cataracts
-Heart problems
-Liver problems (hemorrhages and jaundice)
30
Q

How can TORCH problems be transferred?

A
  • Transplacentally

- When the uterus exits the vagina during birth

31
Q

What does a nucleotide contain?

-

A
  • Sugar
  • Phosphate
  • Base
32
Q

This is the sequence of nucleotide bases that code for DNA

A

-Genetic code

33
Q

T/F- The majority of DNA is noncoding

A

True

34
Q

T/F- Most genetic disorders are multifactorial?

A

True

35
Q

How many chromosomes do humans have?

A

46

  • 22 autosomes
  • 1 pairs of sex chromosomes
36
Q

This is a set of chromosomes

A

Karyotype

37
Q

This is your genetic makeup

A

Genotype

38
Q

This is your physical appearance

A

Phenotype

39
Q

What are the 3 categories of genetic problems?

A
  • Monogenic
  • Polygenic
  • Cytogenic
40
Q

Describe monogenic (genetic problems)

A

-Passed down from parent to child
-Either autosomal ressessive/dominant
Ex. Sickle Cell disease

41
Q

Describe polygenic (genetic problems)

A

-Multi gene influence as they interact with environmental factors (like obesity)
Ex. Type 2 diabetes, CAD, physical traits

42
Q

Describe cytogenic (genetic problems)

A

-Large scale abnormalities of chromosomes caused by extra or absent WHOLE chromosomes or structural dislocations
-Most are not inheritable!!!!!!
-Most are this type
-Arise downstream, so they DO NOT EXIST IN THE ORIGINAL GERM CELL
Ex. Downs Syndrome

43
Q

T/F- DNA mutation that occurs in the ova or the sperm are the only genetic mutations that can be transmitted to the offspring

A

TRUE

44
Q

If the defective gene always expressed

A

Not necessarily

45
Q

How many defective genes do you need for an autosomal recessive disease?

A

2

-if you only have 1 gene, you are a carrier

46
Q

How many defective genes do you need for an autosomal dominant disease?

A

1

Pathophysiology (18 decks)

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