Spina bifida pathophysiology: Difference between revisions
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he candidate genes studied include. Many and maintain planar cell polarity have also been tested as candidates. | he candidate genes studied include. Many and maintain planar cell polarity have also been tested as candidates. | ||
[Disease name] is transmitted in [mode of genetic transmission] pattern.{{cite journal |vauthors=Au KS, Ashley-Koch A, Northrup H |title=Epidemiologic and genetic aspects of spina bifida and other neural tube defects |journal=Dev Disabil Res Rev |volume=16 |issue=1 |pages=6–15 |date=2010 |pmid=20419766 |pmc=3053142 |doi=10.1002/ddrr.93 |url=}} | [Disease name] is transmitted in [mode of genetic transmission] pattern.<ref>{{cite journal |vauthors=Au KS, Ashley-Koch A, Northrup H |title=Epidemiologic and genetic aspects of spina bifida and other neural tube defects |journal=Dev Disabil Res Rev |volume=16 |issue=1 |pages=6–15 |date=2010 |pmid=20419766 |pmc=3053142 |doi=10.1002/ddrr.93 |url=}}</ref> | ||
OR | OR | ||
The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of:{{cite journal |vauthors=Schmoldt A, Benthe HF, Haberland G, Holder AA, Wootton JC, Baron AJ, Chambers GK, Fincham JR, Alekseeva IG, Lapina GP, Tulovskaia ZD, Izmaĭlova VN |title=Digitoxin metabolism by rat liver microsomes |journal=Biochem. Pharmacol. |volume=24 |issue=17 |pages=1639–41 |date=September 1975 |pmid=10 |pmc=5922622 |doi= |url=}} | The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of:<ref>{{cite journal |vauthors=Schmoldt A, Benthe HF, Haberland G, Holder AA, Wootton JC, Baron AJ, Chambers GK, Fincham JR, Alekseeva IG, Lapina GP, Tulovskaia ZD, Izmaĭlova VN |title=Digitoxin metabolism by rat liver microsomes |journal=Biochem. Pharmacol. |volume=24 |issue=17 |pages=1639–41 |date=September 1975 |pmid=10 |pmc=5922622 |doi= |url=}}</ref> | ||
*[[Folic Acid|Folic acid]] | *[[Folic Acid|Folic acid]] | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[2]
Overview
Pathophysiology
- Spina bifida is a congenital malformation in which the spinal column is split (bifid) as a result of failed closure of the embryonic neural tube, during the fourth week post-fertilization.[1]
- In normal infants, the neural tube closes by the end of the 4 week of conception, but in patients with spina bifida, some parts of the neural tube fails to develop or close that causes defects in the spinal cord and in the vertebral bones.
- Spina bifida also may be classified according to the tyoe of the vertebrate defect into 2 subtypes:
- Spina bifida occulta: In this type of spina bifida, the defect of vertebrate is covered by skin ("Occulta" means "hidden"). The spinal cord does not stick out through the skin, although the skin over the lower spine may have a patch of hair, a birthmark, or a dimple above the groove between the buttocks.[1]
- Spina ifida aperta: In this type of spina bifida , the defect is widely open and is sub classified into 2 types: Meningocele and Myelomeningocele.[1]
Pathogenesis
- Spina bifida may be caused by the increase of cerebrospinal fluid (CSF) volume in the central nervous system during the first weeks of embryogenesis.[2]
- Venous insufficiency is the main cause of the increase of cerebrospinal fluid and it may be caused by any disease that reduces space for venous volume.[2]
Genetics
he candidate genes studied include. Many and maintain planar cell polarity have also been tested as candidates.
[Disease name] is transmitted in [mode of genetic transmission] pattern.[3]
OR
The development of spina bifida may be the result of multiple genetically defect in the genes important in the metabolism of:[4]
Other genes which may be contributed in the development of the spina bifida include:
- Genes important in apoptosis
- Genes that regulate transcription in early embryogenesis
- Methionine Cycle genes
- Methylation genes
- Glucose Homeostasis genes
- Cell Recognition and Migration genes
- DNA Repair genes
- Transcription Factors genes such as:
Associated Conditions
Conditions associated with spina bifida include:
- Hydrocephalus
- Chiari II Malformation
- Paralysis
- Urination and deification incontinences
- Latex Allergy
- Learning Disabilities
- Sexual problems
- Emotional problems
- Obesity
- Vision problems
References
- ↑ 1.0 1.1 1.2 Kenworthy ME (July 1966). "Introducing the American Orthopsychiatric Association's president for 1966-67: Norman V. Lourie". Am J Orthopsychiatry. 36 (4): 587–9. PMID 5327787.
- ↑ 2.0 2.1 Williams H (April 2008). "A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida". Cerebrospinal Fluid Res. 5: 7. doi:10.1186/1743-8454-5-7. PMC 2365936. PMID 18405364.
- ↑ Au KS, Ashley-Koch A, Northrup H (2010). "Epidemiologic and genetic aspects of spina bifida and other neural tube defects". Dev Disabil Res Rev. 16 (1): 6–15. doi:10.1002/ddrr.93. PMC 3053142. PMID 20419766.
- ↑ Schmoldt A, Benthe HF, Haberland G, Holder AA, Wootton JC, Baron AJ, Chambers GK, Fincham JR, Alekseeva IG, Lapina GP, Tulovskaia ZD, Izmaĭlova VN (September 1975). "Digitoxin metabolism by rat liver microsomes". Biochem. Pharmacol. 24 (17): 1639–41. PMC 5922622. PMID 10.