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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

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2
Q

What factor is the most likely cause of congenital developmental disease

A

Genetic

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3
Q

3 major categories of genetic factors

A

-Chromosomal abnormalities
-Single gene abnormalities
-Multifactor abnormalities

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4
Q

Chromosomal abnormalities

A

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

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5
Q

Monosomy

A

One less chromosome

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6
Q

Trisomy

A

Extra chromosome

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7
Q

Result of chromosome abnormalities

A

Often cause embryonic death, abortion, or still births

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8
Q

Single gene abnormalities

A

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

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9
Q

Major categories of genes affected in single gene abnormalities

A

-Structural proteins
-Receptor proteins
-Enzymes
-Regulatory proteins

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10
Q

Inheritance of single gene abnormalities

A

-Autosomal
-Sex linked

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11
Q

Multifactorial

A

Disease due to two or more gene abnormalities

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12
Q

Syndactyly

A

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

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13
Q

Where is the bovine syndactyly defect found

A

On bovine chromosome 15 containing Lrp4 gene. 2 aa subsitution

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14
Q

LRP4 gene

A

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

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15
Q

Cenani-Lenz syndrome

A

Human syndactyly because of LRP4 mutation

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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)

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