Brainscape's Knowledge GenomeTM

Browse over 1 million classes created by top students, professors, publishers, and experts.


See full index

General Pathology > Developmental Diseases > Flashcards

Developmental Diseases Flashcards

1
Q

What are the two main categories of factors that contribute to developmental diseases

A

-Genetic factors
-Environmental factors
-Can be combo of the two

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

What factor is the most likely cause of congenital developmental disease

A

Genetic

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

3 major categories of genetic factors

A

-Chromosomal abnormalities
-Single gene abnormalities
-Multifactor abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Chromosomal abnormalities

A

Most common one associated with severe morphological defects. Usually due to changes in number or structures of chromosomes

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Monosomy

A

One less chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Trisomy

A

Extra chromosome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Result of chromosome abnormalities

A

Often cause embryonic death, abortion, or still births

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Single gene abnormalities

A

Changes in single protein. Depending on that protein can have little or no effect or sever effects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Major categories of genes affected in single gene abnormalities

A

-Structural proteins
-Receptor proteins
-Enzymes
-Regulatory proteins

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Inheritance of single gene abnormalities

A

-Autosomal
-Sex linked

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Multifactorial

A

Disease due to two or more gene abnormalities

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Syndactyly

A

Fusion of two functional digits “mulefoot” Can happen in humans. Common in bovines (autosomal recessive in holsteins)

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Where is the bovine syndactyly defect found

A

On bovine chromosome 15 containing Lrp4 gene. 2 aa subsitution

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

LRP4 gene

A

Negative regulator of the Wnt-B-catenin pathway causing abnormal limb development and sometimes craniofacial anomalies and other mutations

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Cenani-Lenz syndrome

A

Human syndactyly because of LRP4 mutation

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Environmental factors that affect embryogenesis

A

-Infection (especially viruses)
-Chemicals
-Nutrition
-Age fetus exposed is critical to nature of the defect

17
Q

Common viruses that causes developmental abnormalities

A

-Bovine diarrhea virus
-Feline panleukopenia virus
-Bluetongue virus

18
Q

Exposure to BVD before 100 days

A

Fetal death

19
Q

Exposure to BVD 100-170

A

Cerebellar, cerebral and ocular lesions

20
Q

Exposure to BVD after 170

A

Persistent infection and lymphoid atrophy

21
Q

Fetal infection with bluetongue virus in sheep

A

Damages developing neurons and get hydranencephaly earlier in gestation. Later in gestation get porencephaly

22
Q

Chemicals that cause develpomental problems

A

Time of infection is very important. Generally comes from plants

23
Q

Veratrum californicum in sheep

A

At 14 days gestation: cyclopia and severe craniofacial defects
29 days: metacarpal and metatarsal shortening
31 days: tracheal and larungeal stenosis

24
Q

Cyclopia in sheep

A

Severe manifestation of holoprosencephaly

25
Q

Holoprosencephaly

A

Disorder from failure of the embryonic forebrain to subdivide properly can be likd or severe

26
Q

What is veratrum californicum

A

Corn lily has cholesterol-like alkaloids

27
Q

What is the function of cholesterol

A

-Structural components of cell membranes. High ratios means low permeability and high stability
-Precursor of steroid hormones and bile acids

28
Q

Shh gene/ hedgehog genes

A

Codes for protein needed for normal nervous system development during embryogenesis. It is a transcriptional regulatory protein. Must be cleaved by cholesterol to become active

29
Q

HH genes

A

Regulate cell proliferation and growth factors post-natally

30
Q

Shh mechanism of action

A

Shh binds to patched after activation to allow smoothened to function. When bound to patched is bound to Shh it senses cholesterol and regulates the amount in the cell and smoothened induces transcription and allows cholesterol trafficking and cell differentiation

31
Q

Veratrum and Shh

A

Binds to Shh but won’t activate so this inhibits it leading to reduction in cholesterol activities and cell differentiation

32
Q

Nutrition on embryogenesis

A

Without proper nutrition you can get abnormal fetal development, whether it is from the mother not getting proper nutrition or uterine or placental abnormalities that prevent proper nutrition

33
Q

Vitamin A on embryogenesis

A

Involved in signal transduction pathways associated with development. Need to develop eyes, CVS, hindbrain, lungs, and skeleton

34
Q

Hypovitaminosis A

A

Brain and musculoskeletal abnormalities

35
Q

Hypervitaminosis A

A

CNS, craniofacial anomalies, cardiac, musculoskeletal and thymic malformation

General Pathology (30 decks)

Brainscape helps you reach your goals faster, through stronger study habits.
© 2024 Bold Learning Solutions. Terms and Conditions