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Congenital Defects Flashcards

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
Q

What is anaplasia?

A

Loss of cellular differentiation (often indicates irreversible progression to neoplasia)

Neoplasia –> pleomorphism, malignancy

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26
Q

What is dysplasia and what can it be?

A

Abnormal formation of a structure; can be preneoplastic (EX: hip dysplasia)

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27
Q

What is the difference in frequency of occurrence of congenital defects in humans vs. animals?

A

Humans = well-documented and reported, studied whenever possible

Animals = frequency not known with certainty, not always possible to observe/document/study

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28
Q

Why are congenital defects in animals not frequently identified?

A

No necropsy

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29
Q

Why are congenital defects in animals not frequently reported?

A

May decrease value of breeding line; owners may not know where to report to

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30
Q

Why are fetal death frequencies in animals not known with certainty?

A

They are not always recognized

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31
Q

Why is frequency of congenital defects in animals not known with certainty and what variables can affect the frequency?

A

Not identified, not reported, fetal deaths; frequency can be affected by breed or line, presence of toxic plants, etc.

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32
Q

What are two importances about congenital defects?

A

economic and sentinel

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33
Q

What is the economic importance of congenital defects?

A

Early mortality (decreased repro rate), decreased value of stock/breeding line, and difficulty of diagnosing abortions

34
Q

What is the sentinel importance of congenital defects?

A

Presence of teratogens that may affect people

35
Q

What are 3 causes of congenital defects?

A

genetic, environmental, genetic + environmental (multifactorial)

36
Q

What are some environmental causes of congenital defects?

A

teratogenic plants, drugs, industrial compounds in air/water/soil

37
Q

What are some examples of teratogens that can cause congenital defects?

A

chemicals, nutrition, drugs

38
Q

What is a common chemical that is also a teratogen?

A

alcohol –> Fetal Alcohol Syndrome

39
Q

What is a common nutritive issue that is also a teratogen?

A

Deficiency of folic acid (Vit B9) –> spina bifida, neural tube closure defects

40
Q

What is a common drug that is also a teratogen?

A

Thalidomide –> phocomelia

41
Q

What are the 9 major categories of congenital defects?

A
  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
Q

What are examples of failure to develop completely?

A

agenesis, aplasia, hypoplasia

43
Q

What are examples of failure of a part to close or coalesce?

A

Cranioschisis, rachischisis, Palatoschisis, Patent foramen ovale, Ventricular septal defect

44
Q

What are cranioschisis and rachischisis?

A

lack of closure of neural tube (Spina Bifida)

45
Q

What is palatoschisis?

A

cleft palate

46
Q

What are exmaples of defects of closure of the ventral abdominal wall?

A

Hernias (i.e. umbilical), schistosomus reflexus (extreme abdominal hernia)

47
Q

What are examples of persistent vestigial or embryonal structures?

A

Thyroglossal duct remnants, Meckel’s diverticulum, parovarian cysts from the paramesonephric duct remnants, persistent ductus arteriosus

48
Q

What are examples of supernumerary or accessory organs and duplications?

A

Polydactyly, supernumerary teats, incomplete twinning (amorphous globosus, dicephalus, parasitic twins, conjoined twins)

49
Q

What are examples of abnormality of location (ectopic, aberrant, heterotopic)?

A

Pacreatic tissue in wall of intestine or stomach, adrenal tissue in kidney or testicle (equine), choristomas

50
Q

What are choristomas?

A

Microscopically normal cells or tissues in an abnormal location

51
Q

What are examples of improper mixture of tissues?

A

Hamartomas

52
Q

What are hamartomas?

A

Excessive focal overgrowth of mature normal cells and tissues in an organ composed of identical cellular elements

53
Q

What are examples of generalized defects?

A

Disturbances of cartilage and bone formation such as chondrodystrophy or dwarfism

54
Q

What are examples of cellular or enzymatic defects?

A

Deficient/defective/absent enzymes, Tay Sachs (humans)

55
Q

What is this?

A

meningocele (congenital)

56
Q

What are 2 common plants that are teratogens and what can they lead to?

A
  1. Verratum californicum (Corn Lily) –> cyclopamine –> inhibits hedgehog signaling pathway
  2. Lupines –> anagyrine –> “crooked calf” syndrome
57
Q

What are 2 examples of radiation as teratogens?

A
  1. Chernobyl 1986 –> neural tube effects
  2. Fukushima 2011 –> thyroid cancer increase
58
Q

What are some infectious agents that act as teratogens?

A

They are usually viruses: cerebellar hypoplasia, parvovirus (cat), BVD, bluetongue virus (sheep)

59
Q

Which brain is normal, and what happened to the lesioned one?

A

Bottom one is normal; top one has cerebellar hypoplasia

60
Q

What is happening here?

A

Meningocele; there was an opening in the skull, fluid built up under the skin and not in the skull cavity

61
Q

What are the principles for teratogenesis?

A
  1. Genetic (spp) susceptibility
  2. Stage of development at exposure
  3. Dose
62
Q

What are critical phases?

A

Stage of embryological and fetal development in which certain organs are forming and are most susceptible to injury.

63
Q

What are the early embryonic critical phases in humans and what is the susceptibility during each?

A

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
Q

What trimester is the most susceptible time?

A

1st

65
Q

When does implantation occur?

A

~2-3 weeks of gestation

66
Q

When does growth and maturation occur?

A

~9-38 weeks of gestation

67
Q

What did Zika virus cause?

A

prolonged maternal viremia and fetal brain abnormalities

68
Q

When can the Zika virus be identified in the maternal serum?

A

16 adn 21 weeks of gestation

69
Q

What occurs in sheep that ingested Veratrum californicum 13-14 days after fertilization?

A

cyclopia

70
Q

What occurs in sheep that ingested Veratrum californicum​ 17-18 days after fertiization?

A

motor nerve paralysis

71
Q

What occurs in sheep that ingested Veratrum californicum​ 12-20 days after fertilization?

A

multiple defects

72
Q

What occurs in sheep that ingested Veratrum californicum​ >30 days after fertilization?

A

hypoplasia of metacarpals/metatarsals

73
Q

What systems are susceptible to defects?

A

Any system is susceptible and multisystem defects are common

74
Q

Why is determining the cause of defects difficult?

A

Time of exposure to manifestation

75
Q

What are the 3 main types of genetic defects?

A
  1. Single gene disorders
  2. Chromosomal aberrations
  3. Multiple genes (polygenic)
76
Q

What is an indication of a defect being genetic?

A

Association with a chromosomal defect (karyotype disorder)

77
Q

What are common chromosomal abnormalities?

A

heteroploidy, euploid, aneuploid

78
Q

What is heteroploidy?

A

Abnormal # of chromosomes

79
Q

What is euploidy?

A

Exact multiples of chromosomes

80
Q

What is aneuploidy?

A

Inexact multiples of chromosomes

81
Q

What are examples of aneuplody?

A

Trisomy 18 (Edwards Syndrome)

Trisomy 21 (Down’s Syndrome)

Trisomy 13 (Patau Syndrome)

Monosomy (Turner Syndrome)

82
Q
A

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