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Congenital Defects Flashcards

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1
Q

What is a congenital defect?

A

Defect present at birth

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2
Q

What is a genetic defect?

A

Hereditary gene defect

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3
Q

Are all congenital defects genetic?

A

No

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4
Q

Are all genetic defects congenital?

A

No

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5
Q

What does it mean when we say that not all genetic defects are congenital?

A

Expression/manifestation of defect may not occur at birth; EX: late juvenile and adult onset diseases

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6
Q

What are some examples of late juvenile and adult onset diseases that are genetic but not congenital?

A

Huntington’s Disease, various Lysosomal Storage Diseases

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7
Q

What can altered cell side, altered structure, and altered function lead to?

A

Can have effects on organ size and shape its function

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8
Q

What is the outcome of normal lysosomal degradation on a complex substrate?

A

Small diffusible end products

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9
Q

What is the outcome of lysosomal enxyme deficiency on a complex substrate?

A

Some small diffusible end products and mostly stored nonmetabolized products

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10
Q

When can you predict the route of cell death in congenital/genetic defects?

A

If the organelle function is known

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11
Q

When can you predict the timeline, route of organ failure, and systemic effects in congenital/genetic defects?

A

If the role of the cell is known

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12
Q

What is the primary cause of a lysosomal storage disease?

A

Genetic defect that leads to an altered protein activity and the accumulation of metabolites in lysosomes.

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13
Q

What are 2 secondary causes of lysosomal storage diseases?

A

Changes in cellular processes Secondary biochemical pathways

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14
Q

What are 3 downstream pathways that are affected by either the primary or secondary causes of lysosomal storage diseases?

A

Tissue pathology, altered gene expression, and tertiary biochemical pathways

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15
Q

What is the end result of lysosomal storage disease?

A

cell/tissue damage and death

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16
Q

What is this?

A

Schistosomus reflexus - rare and fatal congenital disorder

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17
Q

What is teratology?

A

Study of malformations

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18
Q

What are teratogens?

A

Any substance that causes malformations (viruses, chemicals, radiation that can cause mutations)

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19
Q

What is a malformation?

A

Morphologically abnormal intrinsic development

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20
Q

What is a deformation?

A

Abnormal form due to extrinsic causes (can be biomechanical)

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21
Q

What is an example of a deformation?

A

Animal with malformed skull due to impingement during pregnancy

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22
Q

What is agenesis?

A

Total absence of a structure

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23
Q

What is aplasia?

A

Small remnant of a structure

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24
Q

What is hypoplasia?

A

Structure never reached apprpriate size (usually will call it hypoplasia if all layers of an organ are present and it is just small)

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25
What is anaplasia?
Loss of cellular differentiation (often indicates irreversible progression to neoplasia) ## Footnote *Neoplasia --\> pleomorphism, malignancy*
26
What is dysplasia and what can it be?
Abnormal formation of a structure; can be preneoplastic (EX: hip dysplasia)
27
What is the difference in frequency of occurrence of congenital defects in humans vs. animals?
Humans = well-documented and reported, studied whenever possible Animals = frequency not known with certainty, not always possible to observe/document/study
28
Why are congenital defects in animals not frequently identified?
No necropsy
29
Why are congenital defects in animals not frequently reported?
May decrease value of breeding line; owners may not know where to report to
30
Why are fetal death frequencies in animals not known with certainty?
They are not always recognized
31
Why is frequency of congenital defects in animals not known with certainty and what variables can affect the frequency?
Not identified, not reported, fetal deaths; frequency can be affected by breed or line, presence of toxic plants, etc.
32
What are two importances about congenital defects?
economic and sentinel
33
What is the economic importance of congenital defects?
Early mortality (decreased repro rate), decreased value of stock/breeding line, and difficulty of diagnosing abortions
34
What is the sentinel importance of congenital defects?
Presence of teratogens that may affect people
35
What are 3 causes of congenital defects?
genetic, environmental, genetic + environmental (multifactorial)
36
What are some environmental causes of congenital defects?
teratogenic plants, drugs, industrial compounds in air/water/soil
37
What are some examples of teratogens that can cause congenital defects?
chemicals, nutrition, drugs
38
What is a common chemical that is also a teratogen?
alcohol --\> Fetal Alcohol Syndrome
39
What is a common nutritive issue that is also a teratogen?
Deficiency of folic acid (Vit B9) --\> spina bifida, neural tube closure defects
40
What is a common drug that is also a teratogen?
Thalidomide --\> phocomelia
41
What are the 9 major categories of congenital defects?
1. Failure to develop completely 2. Failure of a part to close or coalesce 3. Defects of closure of ventral abdominal wall 4. Persistent vestigial or embryonal structures 5. Supernumerary or accessory organs and duplications 6. Abnormal location: ectopic, aberrant, heterotopic 7. Improper mixture of tissues 8. Generalized defects 9. Cellular or enxymatic defects
42
What are examples of failure to develop completely?
agenesis, aplasia, hypoplasia
43
What are examples of failure of a part to close or coalesce?
Cranioschisis, rachischisis, Palatoschisis, Patent foramen ovale, Ventricular septal defect
44
What are cranioschisis and rachischisis?
lack of closure of neural tube (Spina Bifida)
45
What is palatoschisis?
cleft palate
46
What are exmaples of defects of closure of the ventral abdominal wall?
Hernias (i.e. umbilical), schistosomus reflexus (extreme abdominal hernia)
47
What are examples of persistent vestigial or embryonal structures?
Thyroglossal duct remnants, Meckel's diverticulum, parovarian cysts from the paramesonephric duct remnants, persistent ductus arteriosus
48
What are examples of supernumerary or accessory organs and duplications?
Polydactyly, supernumerary teats, incomplete twinning (amorphous globosus, dicephalus, parasitic twins, conjoined twins)
49
What are examples of abnormality of location (ectopic, aberrant, heterotopic)?
Pacreatic tissue in wall of intestine or stomach, adrenal tissue in kidney or testicle (equine), **choristomas**
50
What are choristomas?
Microscopically normal cells or tissues in an abnormal location
51
What are examples of improper mixture of tissues?
**Hamartomas**
52
What are hamartomas?
Excessive focal overgrowth of mature normal cells and tissues in an organ composed of identical cellular elements
53
What are examples of generalized defects?
Disturbances of cartilage and bone formation such as chondrodystrophy or dwarfism
54
What are examples of cellular or enzymatic defects?
Deficient/defective/absent enzymes, **Tay Sachs** (humans)
55
What is this?
meningocele (congenital)
56
What are 2 common plants that are teratogens and what can they lead to?
1. Verratum californicum (Corn Lily) --\> cyclopamine --\> inhibits hedgehog signaling pathway 2. Lupines --\> anagyrine --\> "crooked calf" syndrome
57
What are 2 examples of radiation as teratogens?
1. Chernobyl 1986 --\> neural tube effects 2. Fukushima 2011 --\> thyroid cancer increase
58
What are some infectious agents that act as teratogens?
They are usually viruses: cerebellar hypoplasia, parvovirus (cat), BVD, bluetongue virus (sheep)
59
Which brain is normal, and what happened to the lesioned one?
Bottom one is normal; top one has cerebellar hypoplasia
60
What is happening here?
Meningocele; there was an opening in the skull, fluid built up under the skin and not in the skull cavity
61
What are the principles for teratogenesis?
1. Genetic (spp) susceptibility 2. Stage of development at exposure 3. Dose
62
What are critical phases?
Stage of embryological and fetal development in which certain organs are forming and are most susceptible to injury.
63
What are the early embryonic critical phases in humans and what is the susceptibility during each?
0-2 weeks = relatively resistant (cattle too) 3-9 weeks = extremely susceptible (peak at 4-5 weeks) Fetal period = relatively resistant (except in late developing organs such as the cerebellum)
64
What trimester is the most susceptible time?
1st
65
When does implantation occur?
~2-3 weeks of gestation
66
When does growth and maturation occur?
~9-38 weeks of gestation
67
What did Zika virus cause?
prolonged maternal viremia and fetal brain abnormalities
68
When can the Zika virus be identified in the maternal serum?
16 adn 21 weeks of gestation
69
What occurs in sheep that ingested *Veratrum californicum* 13-14 days after fertilization?
cyclopia
70
What occurs in sheep that ingested *Veratrum californicum​* 17-18 days after fertiization?
motor nerve paralysis
71
What occurs in sheep that ingested *Veratrum californicum*​ 12-20 days after fertilization?
multiple defects
72
What occurs in sheep that ingested *Veratrum californicum​* \>30 days after fertilization?
hypoplasia of metacarpals/metatarsals
73
What systems are susceptible to defects?
Any system is susceptible and multisystem defects are common
74
Why is determining the cause of defects difficult?
Time of exposure to manifestation
75
What are the 3 main types of genetic defects?
1. Single gene disorders 2. Chromosomal aberrations 3. Multiple genes (polygenic)
76
What is an indication of a defect being genetic?
Association with a chromosomal defect (karyotype disorder)
77
What are common chromosomal abnormalities?
heteroploidy, euploid, aneuploid
78
What is heteroploidy?
Abnormal # of chromosomes
79
What is euploidy?
Exact multiples of chromosomes
80
What is aneuploidy?
Inexact multiples of chromosomes
81
What are examples of aneuplody?
Trisomy 18 (Edwards Syndrome) Trisomy 21 (Down's Syndrome) Trisomy 13 (Patau Syndrome) Monosomy (Turner Syndrome)
82

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