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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2012/10/06 08:51:08」(JST)

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Exencephaly is a type of cephalic disorder wherein the brain is located outside of the skull. This condition is usually found in embryos as an early stage of anencephaly. As an exencephalic pregnancy progresses, the neural tissue gradually degenerates.

The prognosis for infants born with exencephaly is extremely poor. It is rare to find an infant born with exencephaly, as most cases that are not early stages of anencephaly are usually stillborn. Those infants who are born with the condition usually die within hours or minutes.^{[not verified in body]}

Pathophysiology

Relation to other rare disorders: genetic ciliopathy

Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely-varying set of medical symptoms that are clinically visible in the disorders. Exencephaly is one such disease that has recently been identified as part of an emerging class of diseases called cilopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet–Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.^[1]

Notes

^ Badano, Jose L.; Norimasa Mitsuma, Phil L. Beales, Nicholas Katsanis (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders". Annual Review of Genomics and Human Genetics 7: 125–148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. http://arjournals.annualreviews.org/doi/abs/10.1146/annurev.genom.7.080505.115610. Retrieved 2008-06-15.

External links

NINDS Overview
Obgyn.net

UpToDate Contents

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English Journal

Protective effect of ligand-binding proteins against folic acid loss due to photodecomposition.

Liang L, Zhang J, Zhou P, Subirade M.SourceState Key Lab of Food Science and Technology, School of Food Science and Technology, Jiangnan University, Wuxi, Jiangsu, China.
Food chemistry.Food Chem.2013 Nov 15;141(2):754-61. doi: 10.1016/j.foodchem.2013.03.044. Epub 2013 Mar 21.
The B group vitamin known as folates is essential for a variety of physiological processes and plays an important role in the prevention of neural tube defects. However, it decomposes when exposed to UV light. In this study, the response of the synthetic form of folates known as folic acid to UV irr
PMID 23790844

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele.

Kase BA, Northrup H, Au KS.SourceDepartment of Obstetrics, Gynecology, and Reproductive Sciences, The University of Texas Medical School at Houston, Houston, TX.
American journal of obstetrics and gynecology.Am J Obstet Gynecol.2013 Oct;209(4):388.e1-7. doi: 10.1016/j.ajog.2013.06.004. Epub 2013 Jun 20.
OBJECTIVE: Excessive oxidative stress has been demonstrated as a mechanism for neural tube defects (NTDs). The current exploratory study sought to examine sequence variations in the superoxide dismutase 1 (SOD1) and 2 (SOD2) genes in patients with myelomeningocele and to identify variants altering r
PMID 23792044

Mutation at the folate receptor 4 locus modulates gene expression profiles in the mouse uterus in response to periconceptional folate supplementation.

Salbaum JM, Kruger C, Kappen C.SourceDepartment of Regulation of Gene Expression, Pennington Biomedical Research Center, Baton Rouge, LA 70808, USA. michael.salbaum@pbrc.edu
Biochimica et biophysica acta.Biochim Biophys Acta.2013 Oct;1832(10):1653-61. doi: 10.1016/j.bbadis.2013.04.028. Epub 2013 May 4.
Periconceptional supplementation of folic acid to the diet of women is considered a great success for a public health intervention. Higher folate status, either by supplementation, or via the mandatory fortification of grain products in the United States, has led to significant reduction in the inci
PMID 23651732

Japanese Journal

Acrania/encephalocele sequence (exencephaly) associated with 92, XXXX karyotype : Early prenatal diagnosis at 9^<+5> weeks by 3D transvaginal ultrasound and coelocentesis

TONNI Gabriele,VENTURA Alessandro,BONASONI Maria Paola
Congenital anomalies 49(3), 113-115, 2009-09-01
NAID 10029577179

P1-IS-53 Prenatal 3D-ultrasound diagnosis of Exencephaly associated with partial trisomy 2p and distal 5p deletion

Kim Sa Jin,Kim Min Jeong,Kim Myung Shin,Park In Yang,Hur Soo Young,Lee Gui Sera,Shin Joung Chul
日本産科婦人科學會雜誌 59(2), 775, 2007-02-01
NAID 110006804439

The pleiotropic function of the YB-1-Translational regulation and its knockout mouse

内海健
Japanese Journal of Clinical Chemistry 36(4), 296-302, 2007
… YB-1 knockout mice show embryonic lethal and exhibit exencephaly associated with abnormal patterns of cell proliferation within the neuroepithelium. …
NAID 130003357103