Unit 2 Pathophysiology - Chapter 5 Genes, Environment-Lifestyle, and Common Diseases

Question 1

Incidence rate

Factors Influencing Incidence of Disease in Populations

Answer 1

number of new cases of disease reported during specific period divided by # individuals in the population

Question 2

Prevalence rate

Factors Influencing Incidence of Disease in Populations

Answer 2

proportion of population affected by a disease at a specific point in time; can be compared to incidence rate

Question 3

Relative risk

Factors Influencing Incidence of Disease in Populations

Answer 3

common measure of effec of a specific risk factor; ratio individuals exposed to a risk factor dived by incidence of disease among individuals not exposed to risk factor

Question 4

Factors affect acquiring common disease

Factors Influencing Incidence of Disease in Populations

Answer 4

cancer, diabetes, htn // age, gender, exercise, family hx

Question 5

Polygenic

Principles of Multifactorial Inheritance

Answer 5

Variation in traits caused by combined effects of multiple genes

Question 6

Multifactorial

Principles of Multifactorial Inheritance

Answer 6

environmental factors believed to cause variation in trait; also quanitiatve factors (blood pressure for example) are considered it as well

Question 7

What visual distribution for traits?

Principles of Multifactorial Inheritance

Answer 7

bell-shaped (normal) distribution

Question 8

Liability model? What are some diseases?

Principles of Multifactorial Inheritance

Answer 8

Similar to bell-shaped but one end is only affected individuals (small %)

• pyloric stenosis (thickening or swelling of pylorus => forceful vomiting, infantile hypertrophic pyloric stenosis)
• neural tube defects (folate or vit b9 deficiency (RBC formation and cell growth and fx), these tubes form early brain and spine, spina bifida - neural tube doesn’t close all the way causing spine to poke out and not form properly OR anencephaly - baby born w/o parts of brain or skull)
• Cleft palate (opening or split in roof othe mouth when tissue doesn’t fuse during womb development
• forms of congenital heart disease

Question 9

Common adult diseases (HTN, coronary HD, stroke, dm 1/2, cancers) caused by genetic + environmental factors can be categorized as?

Principles of Multifactorial Inheritance

Answer 9

Multifactorial diseases

Question 10

5 criteria that determine multifactorial inheritance

Principles of Multifactorial Inheritance

Answer 10

1. Recurrence risk higher when more than 1 family member is affected
2. proband (starting point of genetic family study) expression is severe; recurrence risk of higher
3. recurrence risk higher if proband is of the less commonly affected sex (less of particular gender?)
4. reccurrene risk decreases in remotely related relatives
5. prevalance of disease in population is f and risk of offspring + siblings of probrands if sq root f

Question 11

Lung cancer vs breast cancer

Nature and Nurture: Disentangling the Effects of Genes and Environment

Answer 11

Lung cancer very little genetic influence; breast cancer - larger genetic component

Question 12

Monozygotic twins

Nature and Nurture: Disentangling the Effects of Genes and Environment

Answer 12

developing embryo divide to form 2 separate but identical embryos

Question 13

DIzycogtic twins

Nature and Nurture: Disentangling the Effects of Genes and Environment

Answer 13

double ovulation and fertilizawtion of each egg by a different sperm

Question 14

Concordant and discordant

Nature and Nurture: Disentangling the Effects of Genes and Environment

Answer 14

Both members of a twin pair share a trait; they do not share same trait

Question 15

Why study adopted children?

Nature and Nurture: Disentangling the Effects of Genes and Environment

Answer 15

To estimate genetic contribution to a multifatorial trait

Question 16

Congential diseases

Genetics of Common Diseases

Answer 16

Present @ birth

Question 17

Cleft palate and pyloric stenosis repairable?

Answer 17

Yes; not serious problems

Question 18

Other traits that often develop with spina bifida and cleft palate? And congential HD?

Answer 18

• spina bifida - hydrocephaly (buildup of cerebrospinal fluid in the ventricles (cavities) deep within the brain), and club foot (deformity in which an infant’s foot is turned inward, often so severely that the bottom of the foot faces sideways or even upward)
• cleft palate - trisomy 13
• Congential HD - down syndrome or maternal rubella infection (many others)

Question 19

What was the controversy with thalidomide, sedative used in 1960s for pregnancy?

Genetics of Common Diseases

Answer 19

When ingested, phocomelia or severely shortened limbs observed in babies

Question 20

Retinoic acid (acne treatment) and maternal exposure

Genetics of Common Diseases

Answer 20

cogenital defects of heart, ear, and CNS