Embryo pt.6 Flashcards

1
Q

What are some viruses that are known to cause congenital abnormalities?

A
  • CMV
  • Hepatitis B
  • HSV
  • Rubella virus
  • Human parvovirus B19
  • Syphilis
  • Varicella virus
  • Zika virus
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2
Q

What are some known agents that can cause congenital abnormalities?

A
  • Alcohol
  • Cocaine
  • Tetracycline
  • Warfarin
  • Lithium carbonate
  • Isotretinoin
  • Androgens and high doses of progestogens
  • Misoprostol
  • Methotrexate
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3
Q

What is the most famous pharmaceutical catastrophe that led to the development of congenital defects in babies?

A

Thalidomide induced embryopathy

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4
Q

What can teratogens be divided into? Expand on each

A

Four categories:
- Physical (ionizing radiation and agents that contribute to hyperthermia)
- Chemical (metabolic conditions, malnutrition, diabetes, thyroid disorders)
- Infectious agents
- Maternal conditions (drugs and chemicals the pregnant female ingests such as alcohol, cocaine,
thalidomide; etc)

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5
Q

What was thalidomide prescribed for historically?

A
  • Originally intended as a sedative
  • Soon after used for treating a wide range of conditions including colds, flu, nausea, and morning sickness in pregnancy
  • Scientists did not know that the effects of a drug could be passed through the placental barrier and affect development and so harm a fetus
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6
Q

When was thalidomide most use historically?

A

Thalidomide was a widely used over-the-counter drug in the late 1950s and early 1960s

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7
Q

What is the name of the condition in which a baby is developmentally affected by thalidomide use?

A

Thalidomide embryopathy

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8
Q

Chorioretinitis

A

An inflammation of the choroid, which is a lining of the retina deep in the eye

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9
Q

Definition of thalidomide embryopathy

A

A group of anomalies presented in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide

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10
Q

Characteristics of thalidomide embryopathy

A
  • The most characteristic defects are reduction
    deformities, that is, the loss of part or the
    whole of one or more bones
  • Malformation of the limbs were commonly present (amr description: “the defect which falls just short of
    complete absence of the arm (upper limb amelia) consists of one or more digits attached
    directly to the shoulder)”
  • The majority of people with thalidomide defects of the upper limbs have normal lower
    limbs
  • A minority have defects of all limbs
  • Phocomelia (malformations of arms and legs)
  • malformations of human arms and legs
  • defects involving the
    ears, the eyes, and the nerve supplies to the
    face, the eye muscles, and the lacrimal (tear)
    glands
  • Internal defects commonly affected the
    heart, the kidneys and urinary tract, the alimentary tract, and the genital tract, and none
    was unique to thalidomide
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11
Q

How many babies were affected by thalidomide embryopathy?

A

Estimates range from 10,000 to 20,000

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12
Q

Infant mortality from thalidomide embryopathy

A

Estimated to be as high as 40%.

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13
Q

Fetal alcohol deficiency features

A
  • Mental deficiency
  • Microcephaly
  • Ocular anomalies
  • Joint abnormalities
  • Short palpebral fissures
  • Intrauterine growth restriction
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14
Q

Chemicals causing birth defects

A

Methylmercury

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15
Q

Methylmercury associated birth defects

A
  • Cerebral atrophy
  • Seizures
  • Mental deficiency
  • Spasticity
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16
Q

Hep B associated birth defects

A
  • Preterm birth
  • Low birth weight
  • Fetal macrosomia
17
Q

CMV associated birth defects

A
  • Microcephaly
  • Chorioretinitis
  • Sensorineural hearing loss
  • Hepatosplenomegaly
  • Hydrocephalus
18
Q

Rubella virus associated defects

A
  • IUGR
  • Postnatal growth retardation
  • Cardiac and great vessel abnormalities
  • Microcephaly
  • Sensorineural deafness
  • Cataract
  • Glaucoma
  • Mental deficiency
  • hepatosplenomegaly
  • Osteopathy
19
Q

What does the effect of teratogens on the baby depend on?

A

Teratogens affect the fetus or embryo in a variety of ways depending on:
- duration of exposure;
- amount of teratogenic substance;
- stage of development the embryo or fetus is in during the exposure.

20
Q

HSV associated birth defects

A
  • Skin vesicles and scarring
  • Hemolytic anemia
  • Hepatomegaly
  • Chorioretinitis
21
Q

Varicella associated birth defects

A
  • Cutaneous scars (Dermatome distribution)
  • Hydrocephalus
  • Seizures
  • Neurologic defects (e.g. lim paresis (incomplete paralysis))
  • Microcephaly
  • Horner syndrome
22
Q

Radiation associated birth defects

A
  • Microcephaly
  • Cognitive deficiency
  • Skeletal anomalies
  • Growth retardation
  • Cataracts
23
Q

Zika virus associated birth defects

A
  • Microcephaly with partial skull collapse
  • Thin cerebral cortices
  • Retinal mottling and macular scarring
  • Contractures
  • Hypertonia
24
Q

How many children are born with minor birth defects?

A
  • ## Single minor defects occur in around 15% of neonates
25
Q

How many children are born with major birth defects?

A
  • About 3% (reaches 6% by age 2 and 8% by age 5)
  • Multiple major defects in 0.7% (most of them die)
26
Q

How many children with minor defects also have major defects?

A
  • 90% of infants with three or more minor defects also have one or more major defects
27
Q

Definition of phenotype

A

THe morphological characteristics of a person determined by the genotype and environment in which it is expressed