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12 Cards in this Set
- Front
- Back
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How common are CNS malformations?
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Frequency of 1 per 1000 pregnancies
Higher frequency among spontaneous abortions |
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What are the most prevalent defects in CNS malformation?
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Anencephaly
Spina bifida (open or closed) Cranio-rachischisis Encephalocele |
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When does neural tube closure happen in humans?
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21-28 post- fertilization
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What are the two ways in which neural tube defects can arise?
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Failure of neural tube closure
Re-opening of closed neural tube |
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The disturbance of which pathway leads to neural tube defects?
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planar cell polarity pathway
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What pathway is required for closure 1?
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planner cell polarity pathway
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Mutations of the planner cell polarity pathway cause what?
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craniorachischisis
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What is defective in PCP mutants?
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Convergent extension
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ASPP2 have knockout embryos have NTDs...?
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at unusual locations
at increasing severity with gestational age |
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What is a Teratogen? An example?
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a substance or influence that leads to a birth defect. Thalidomide.
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List teratogenic causes of human NTDs?
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Anticonvulsants (Carbamazepine)
Folate antagonists (Fumonisin) Deficiency of (Folic acid, Vitamin B12, Inositol, Diabetes, obesity |
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What can be done to prevent NTDs?
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Folic acid, inositol (?)
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