Devo Genetics

Question 0

Disruption

Answer 0

tissue damage –> structural defect

completely random event (would have been normal otherwise)

Question 1

Malformation

Answer 1

abnormal formation –> structural defect
Major and minor (surgical?)
isolated or syndromatic
inherited or random

Question 2

Deformation

Answer 2

abnormal form/position of body–> mechanical force –> abnormality

Question 3

Potter sequence

Answer 3

renal agenesis (malformation) –> no amniotic fluid – mechanical pressure (deformation) –> no fluid –> pulmonary hyperplasia

Question 4

UPD

Answer 4

Uniparental disomy
inherit both homologues or a region of both homologues from a parent
–> overexpression or deletion

Question 5

How to detect UPD?

Answer 5

SNP array

Question 6

Genome wide UPD?

Answer 6

Maternal- ovarian teratoma

Paternal- hydatiform mole of placenta (no fetus, disorganized placenta)

Question 7

big problem with cloning?

Answer 7

Imprinting problems

Question 8

3 big processes of devo?

Answer 8

Morphogenesis
Cell growth
Cell differentiation

Question 9

HOX gene describe?

Answer 9

3 alpha helices
4 clusters of genes on 4 chromosomes
temperospatial arranngement
importan order of ncRNA and highly conserved genes

Question 10

Morphogens? examples (3)? what should not be taken during pregnancy?

Answer 10

small molecules that create concnetration gradients
retinoic acid, steroid hormones, thyroxine (bind TF)
isoretinoin: low affinity bind retinoic acid receptors

Question 11

Sequential induction? problem here results in?

Answer 11

Morphogenesis
morphogens release in series with feedback loops (determined by HOX gene?)
defective induction –> achondroplasia

Question 12

Interstitial fluid accumulation (IFA)

Answer 12

• flow out of vessel (via Hp) - flow in (via interstitial Hp and oncotic pressure) - lymphatic drainage
• edema = high IFA

Question 13

Anasarca?

Answer 13

extereme generalized edema

Question 14

Edema caused by (3)?

Answer 14

Increased hydrostatic pressure (venous obstruction)
Decreased oncotic pressure (less albumin))
Decreased lymphatic drainage (obstruct lymphatic)

Question 15

Ascites

Answer 15

distended abdomen from fluid accum

increased hydrostatic pressure in portal vein from liver cirrhosis –> transudate

Question 16

Pulmonary edema?

Answer 16

fluid buildup in alveoli

L heart failure, back up in L atrium –> increased hydrostatic pressure in lungs

Question 17

Peripheral edema?

Answer 17

increased hydrostatic pressre in lower limb from gravity –> venous pooling
sock lines

Question 18

Pitting edema indicates?

Answer 18

venous blockage (kidney dsease, blood clot, vein inflamm, venous obstruction, R heart failure)

Question 19

Causes of albumin loss?

Answer 19

–> decreased oncotic pressure –> edema
nephrotic syndrome - proteinuria
gastroenteropathy - diarrhea

Question 20

Causes for albumin synthesis loss?

Answer 20

Hepatic cirrhosis
Malnutrition
–> edema

Question 21

Primary v secondary lymphedema?

Answer 21

Primary: congeintal or herediitary
Secondary: from infection/inflammation/obstruction/fibrosis

Question 22

Hyperemia?

Answer 22

increased blood flow to organ or tissue; often accompanied with edema

Question 23

Active v passive hyperemia?

Answer 23

Active- exercise, inflammation

Passive- congestion, venous pooling

Question 24

Hyperemia caused by? clinical features?

Answer 24

1. pump failure:
   R heart failure- congestion of liver, spleen, LL; enlarged R heart, enlarged jugular vein, enlarged liver, LL edema; nutmeg liver
   L heart failure- pulmonary congestion; resp difficulty
2. clogged pipes (pooling behind clot/obstruction)