Congentital and Childhood Disorders Flashcards Preview

Pathophysiology > Congentital and Childhood Disorders > Flashcards

Flashcards in Congentital and Childhood Disorders Deck (46)
1

What trimester is the most critical for development?

First trimester

2

What occurs in the first trimester?

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

3

What controls embryonic development?

DNA

4

What occurs in the 2nd trimester?

-Rapid growth
-Differentiation
-Maturation of body tissues and organs

5

What occurs in the third trimester?

-Nervous system begins regulating the body tissues and organs
-Respiratory system matures
-Sexual development is completed

6

Excessive mutation can cause...

Spontaneous Abortion

7

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

-Folic acid
-Essential during the first trimester

8

If you lack folic acid, what are its effects?

Effects the neural tube and can lead to spina bifida

9

This is any agent capable of causing a congential fetal abnormaility

Teratogen

10

What are the common tetatogens?

-Alcohol (MOST COMMON)
-Drugs
-Viral infections
-Toxins

11

This is any abnormality present at birth

Congential Defect

12

When do most birth defects occur and why?

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

13

What are common causes of birth defcts?

-Mechanical factors
-Genetic Factors
-Environmental factors
-Multifactorial

14

This is caused by maternal mechanical factors that distort the fetus

Congential Deformations

15

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

Congential malformations

16

What is an example of mechanical defect

Club Foot

17

Describe club foot

-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

18

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

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

19

What are the effects of fetal alcohol syndrome?

-Thin upper lip
-Wide set eyes
-Intrauterine growth restriction
-Short eye syndrome
-Mental deficiency

20

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

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

Again, what is folic acid and B12 important for?

Development of the nueral tube (incases the spinal cord)

22

What are the 3 types of Spina bifida?

-Spina bifida occulta
-Spina bifida with meningocele
-Spina bifida with myelomeningocele

23

Describe spina bifida occulta?

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

24

Describe spina bifida with meningocele

-The meninges and CSF protrude through the deficit
-Large deficit
-Causes a cystic nature

25

Describe spina bifida with myelomeningocele

-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

What is vitamin A used for in development

Formation of...
-Heart
-Limbs
-Eyes
-Ears

27

How does ionizing radiation cause birth defects?

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

28

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

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

29

What are S&S of TORCH syndrome?

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

30

How can TORCH problems be transferred?

-Transplacentally
-When the uterus exits the vagina during birth

31

What does a nucleotide contain?
-

-Sugar
-Phosphate
-Base

32

This is the sequence of nucleotide bases that code for DNA

-Genetic code

33

T/F- The majority of DNA is noncoding

True

34

T/F- Most genetic disorders are multifactorial?

True

35

How many chromosomes do humans have?

46
-22 autosomes
-1 pairs of sex chromosomes

36

This is a set of chromosomes

Karyotype

37

This is your genetic makeup

Genotype

38

This is your physical appearance

Phenotype

39

What are the 3 categories of genetic problems?

-Monogenic
-Polygenic
-Cytogenic

40

Describe monogenic (genetic problems)

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

41

Describe polygenic (genetic problems)

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

42

Describe cytogenic (genetic problems)

-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

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

TRUE

44

If the defective gene always expressed

Not necessarily

45

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

2
-if you only have 1 gene, you are a carrier

46

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

1