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Embryology
Chapter 20
31
Biology
Graduate
11/29/2011

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Term
Lead
Definition

1. Lead passes through placental membrance and accumulates in fetal tissue.

2. Prenatal exposure is associates with increased abortions, fetal anormalies,IUGR, and funtional deficits.

3. Neurobehavorial and psychomotor disturbances.

Term
Organic Mercury causes what?
Definition

1. Neurologic behavioral disturbances resembling cerebral palsy may result when mohers consume fish high in organic mercury.

2. Severe brain damage, mental retardation, and blindness in infants of mothers who recieve methyl mercury in food.

Term

Symptoms  and Causes of Toxoplasmosis

 

Definition

1. Toxoplasma gondii

2. If present in embryo stage, will kill embryo

3. Microcephaly

4. hydrocephaly

5. Cerebral calcification

6. Microphthalmia

7. Mental retardation

8. The toxoplasmosis parasite may be found in cat feces, soils, and in undercooked infected meat.

Term
How to avoid toxoplasmosis
Definition

Toxoplasmosis is easily prevented by taking simple precautions such as having someone else clean cat litter boxes, keeping cat indoors, throughly cook meat abd washing fruits and vegetables before eating, wearing gloves when gardening and washing hands after handling raw meat.

Also avoid eggs of domestic fowl and unpasterized milk

Term
What is the most common virus of fetus and what happend?
Definition

Cytomegalovirus

It occurs in 1% of newborns.

Seems fataal when it affects embryo.If infected during 1st trimester, most pregnacies end.

Infections in early fetal periof usually show no clinical signs and is identifed through screeing programs.

Term
If infected with cytomegalovirus late in pregnancy what may happen?
Definition

1. IUGR

2. microphthalmia

3. chorioretinitis

4. blindness

5. microcephaly

6. cerebral calcification

7. Mental retardation

8. deafness

9.cerebral palsy

10.hepatosplenomegaly

Of particular concern are cases of asymptomatic CMV infects which are often associated with audiologic,neurologic, and neurobehavioral disturbance in infancy.

 

Term
What are the symptoms of Fetal Alcohol Syndrome?
Definition

1. microcephaly

2. epicanthal folds

3. maxillary hypoplasia

4. short nose, thin upper lip

5. joint anormalies

6. congenital heart defects

Term
Facts about Alcohol use during pregnancy
Definition

1. greater the intake-the more severe the anomalies

2. Moderate consumption (1-2 oz per day) can result in cognitive inpairment and behavioral problems.

3.there is no documented safe amount to consume during pregnancy so it is recommended that there be total abstinence from alcohol during pregnancy.

Term
What is the most common cause of mental deficiency?
Definition
Maternal alcohol abuse
Term
Cigarette Smoking
Definition

1. IUGR

2. Heavy smokers

a. a premature birth 2x more likely and infants weight less than normal

b. Modest increase in incidence of infants with conotruncal heart defects and limb deficiences associated with maternal and paternal smoking

c. There is evidence that maternal smoking can lead to decrease in uterine blood flow, lowering the supply of oxygen and nutrients available to embryo/fetus.

Chronic fetal hypoxia may occur and affect fetal growth and development.

Term
What is the chief predictor of infant death?
Definition
Low birth weight
Term
Thalidomide used to treat what diseases
Definition

1. Drug of choise for leprosy currently used in South America and US

2. Studies beening done to determine the effectiveness of thalidomide in treating symptoms associated with AIDS, lupus, rheumatoid arthritis, inflammatory bowel disease, masculard degenerationm and some cancers.

Term
Defects induce by Thalidomide
Definition

1. Drugs induce severe limb defects such as limbmeromelia- Phocomelia (seal limbs)- absence of part of upper and/or lower limb if given in critical period of limb development

2. May cause amelia-absence of limb

3. If givin later in sensitive period- cause mild to moderate limb defects (hypoplasia of ulna and radius)

micromelia-abnormal shortness or smalless of limb

 

 

Term
Other defects caused my Thalidomide
Definition

1. absence of external and internal ears

2. hermangioma of forehead- abnormal buildup of BV

3. heart defects

4. anormalies of urinary and alimentary system

Term

There is clinical evidence of defects if thalidomide is given after critical period

True or False

Definition
False
Term
How does enviroment causes affect embryo?
Definition

1. Teratogens may cause developmental disruptions after maternal exposure.

2. During the 1st two weeks of development- they may interfere with cleavage of zygote and implantation and/or cause early death and spontaneous abortion of embryo.

Term
What are environemental agents called?
Definition
teratogens
Term
What is the first documented cause of an environmental agent and what happen and what year?
Definition

Rubella Virus in 1941

1. It was an infective teratogen

2. It could produce severe anatomic anomalies such as cataracts, cardiac defects, and deafness, if present during critical development stages of eyes, heart, and ears

3. Other abnormalities occasionally observed:

a. mental deficiency

b. Chrioretinitis- irritation of the uvea

c. glaucoma

d.microphthalmia

e. tooth defect

Term
What is most common inherited cause of moderate mental retardation?
Definition
Fragile X syndrome
Term
Fragile X syndrome
Definition

1. Degree of mental retardation is more variable and milder in female.

2. It affects 1 in 4,000 males and 1 in 1,800 females and occurs in all racial and ethnic groups

3. Fragile X syndrome gets it name from the appearance of the section of the X chromosome where gene mutation occurs. In certain condition, under the microscope, the section of the chromosome looks fragile, like it dangling by a thread

 

 

Term
What causes Fragile X Syndrome?
Definition
In 1991, a March of Dimes-supported reseacher discovered that fragile X syndrome is caused by a mutation in a gene (FMR-1) located on the X chromosome.
Term
What are the charactistics of Achondroplasia?
Definition

dominantly inherited

a. Short limbs relative to trunk

b. prominent forehand

 

Term
What is deletion?
Definition
a piece of the chromosome is missing
Term

Cri du Chat syndrome

what type of mutation is this?

 

Definition

Deletion

Cry of the Cat Syndrome

1. deletion from the short arm of chromosome 5

2. Affected infants have weak catlike cry which diminishes with age.

3. microcephaly, severe mental defciency, and congenital heart disease

4. IQ is around 35

5. Mortality rate is increased but some have survived to adulthood

Term
What is translocation?
Definition

Transfer of a piece of chromosomes to a nonhomologous chromosome

3% to 4% of persons with Downs have translocation trisomies because the extra 21 chromosome is attached to another chromosome

Term
What is reciprocal translocation?
Definition
Two nonhomologous exchange pieces, it is reciprocal translocation
Term
Trisomy of sex chromosomes
Definition

Common disorder but there are no characteristics physical finding in infants and children. May not be detected until puberty.

 

Term

Klinefelter

what type of genetic disorder?

Definition

trisomy of sex chromosomes

XXY

1. 1/500 and 1/1000 births

2. May develop breast (gynecomastia)- leads of increased risk of breast cancer

3. Small testes (hypogonadism)

4. Testosterone is low

5. Predispostion for learning disabilities and reduction in verbal IQ

6. Intelligence is normal but may be 10-15 points below siblings

6

 

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