9/3/13

Question 1

Type of inheritance that includes multiple genetic and environmental factors

Answer 1

Multifactorial inheritance

Question 2

In this model, the disease manifest when the liability exceeds the hypothetical threshold

Answer 2

Threshold model

Question 3

Monozygotic and dizygotic twins have what percentage of genes shared respectively

Answer 3

100%, 50%

Question 4

Name the 4 expectations of the threshold model

Answer 4

1. The higher number affected in the family, greater liability and recurrence risk
2. The more serious the effects of the disease are, the higher liability and recurrence risk
3. If a disease affects the sex that is not usually affected by the disease means that the parents have accumulated a greater liability
4. The recurrence risk drops of significantly for relatives beyond the first degree

Question 5

Equation for heritability

Answer 5

h^2= 2* (Cmz-Cdz)

Question 6

What does a greater than 1 heritability signify

Answer 6

There could be multiple causes or there are subsets of the disease

Question 7

What type of study is best suited for multifactorial inheritance

Answer 7

Genomic wide association study

Question 8

What type of study is best suited for single gene disorders

Answer 8

Linkage study

Question 9

Point mutation in what gene could cause early onset of familial alzeimer’s disease?

Answer 9

APP gene in chromosome 21 (valine to isoleucine)

Question 10

Three factors that are involved with blood homeostasis

Answer 10

1. Intact vessel wall
2. Normal intravascular pressure and osmotic pressure
3. balancing fluid vs. clotted state of blood

Question 11

Extreme generalized edema of subcutaneous tissues, cavities, and organs

Answer 11

Anasarca

Question 12

4 causes of edema

Answer 12

1. High hydrostatic pressure
2. Low osmotic production
3. Lymphatic obstruction
4. Na+/ H2O retention

Question 13

Describe how cardiac failure can lead to systemic increased hydrostatic pressure

Answer 13

Decrease in CO–> less arterial blood to kidney–> renin is released by JG cells–> converts angiotensinogen to angiotensin 1–> angiotensin 1 stimulates the release of aldosterone from the adrenal cortex–> more Na+ and water is retained from the distal tubule–> increased venous pressure forces fluid into interstitial fluid

Question 14

What are the three methods that reduce plasma osmotic pressure

Answer 14

Liver disease, starvation, kidney disease

Question 15

Most edema today results from (transudate/exudate)

Answer 15

transudate

Question 16

Passive back up of blood due to venous blockage

Answer 16

Congestion

Question 17

The increased volume of blood to a tissue as an active physiologic response to a functional demand or hormonal or neural trigger

Answer 17

Hyperemia

Question 18

The yellow brown appearance of cells in the lungs during chronic pulmonary congestion is due to

Answer 18

macrophages removing hemmoraged RBC and becoming filled with hemosiderin

Question 19

_____hemmorage that is 1-2mm, happens in the skin, mucosa, and serosa and is caused by_____

Answer 19

Petechiae/ increased intravascular pressure, decreased platelet number or function, decrease in clotting factor

Question 20

____ hemmorage that is 3-5mm, happens in the skin and is caused by______

Answer 20

Purpura/ increased intravascular pressure, decreased platelet number or function, decrease in clotting factor, trauma, vascular inflammation

Question 21

_____ hemmorage that is >1cm, happens in the skin and is caused by______

Answer 21

Ecchymoses/ increased intravascular pressure, decreased platelet number or function, decrease in clotting factor, trauma

Question 22

Three stages of ecchymosis

Answer 22

Blue-red (hg), Blue-green (bilirubin), Yellow-brown (hemosiderin)