関: nervous system abnormality、nervous system anomaly、nervous system malformation

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/16 01:20:50」(JST)

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Cranioschisis (Greek: "κρανιον - kranion" skull, and "schisis - σχίσις" - split) is a developmental birth defect involving the skull. In this disease, the cranium fails to close completely (especially at the occipital region). Thus, the brain is exposed to the amnios, and eventually degenerates, causing anencephaly.

English Journal

Vinyl Chloride Monomer (VCM) Induces High Occurrence of Neural Tube Defects in Embryonic Mouse Brain During Neurulation.

Quan H1, Ma T, Zhao X, Zhao B, Liu Y, Li H.Author information 1Department of Histology and Embryology, Third Military Medical University, Gaotanyan St 30#, Shapingba District, Chongqing, 400038, People's Republic of China.AbstractThe aim of this study was to explore the direct embryonic teratogenicity of vinyl chloride monomer (VCM), especially the toxic effects on the early development of the nervous system and its underlying mechanisms. Pregnant mice at embryonic day 6.5 (E6.5) were injected with different doses of VCM (200, 400 and 600 mg/kg) and embryos were harvested at E10.5. Our results showed that doses higher than 400 mg/kg of VCM increased the incidence of malformed embryos, especially the neural tube defects (NTDs). In addition, high-dose of VCM decreased mitotic figure counts in the neuroepithelium and enhanced the percentage of cells in G0/G1 phase, while they were reduced in S phase. The more VCM was injected into mice, the fewer positive PCNA cells were seen and the more positive TUNEL cells were observed in the neuroepithelium. Moreover, significant increases in the levels of caspase-3 protein were observed in NTD embryos. Our results demonstrate that during early pregnancy, exposure to doses higher than 400 mg/kg of VCM increases the incidence of malformations and particularly the rate of NTDs. High-dose of VCM inhibits the proliferation of neural cells and induces cell apoptosis, leading to an imbalance in the ratio of proliferation and apoptosis. Meanwhile, the apoptosis of neuroepithelial cells might be accelerated by the activation of the caspase-3 pathway, and it might be a reason for NTDs.
Cellular and molecular neurobiology.Cell Mol Neurobiol.2014 May;34(4):619-30. doi: 10.1007/s10571-014-0049-6. Epub 2014 Mar 25.
The aim of this study was to explore the direct embryonic teratogenicity of vinyl chloride monomer (VCM), especially the toxic effects on the early development of the nervous system and its underlying mechanisms. Pregnant mice at embryonic day 6.5 (E6.5) were injected with different doses of VCM (20
PMID 24664314

Lesions from patients with sporadic cerebral cavernous malformations harbor somatic mutations in the CCM genes: Evidence for a common biochemical pathway for CCM pathogenesis.

McDonald DA1, Shi C, Shenkar R, Gallione CJ, Akers AL, Li S, de Castro N, Berg MJ, Corcoran DL, Awad IA, Marchuk DA.Author information 1Molecular Genetics and Microbiology Department, Duke University Medical Center, Durham, NC 27710, USA.AbstractCerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three genes, KRIT1, CCM2, or PDCD10, can cause the inherited form. Analysis of CCM lesions from inherited cases revealed biallelic somatic mutations, indicating that CCM follows a Knudsonian two-hit mutation mechanism. It is still unknown, however, if the sporadic cases of CCM also follow this genetic mechanism. We extracted DNA from 11 surgically excised lesions from sporadic CCM patients, and sequenced the three CCM genes in each specimen using a next-generation sequencing approach. Four sporadic CCM lesion samples (36%) were found to contain novel somatic mutations. Three of the lesions contained a single somatic mutation, and one lesion contained two biallelic, somatic mutations. Herein, we also describe evidence of somatic mosaicism in a patient presenting with over 130 CCM lesions localized to one hemisphere of the brain. Lastly, in a lesion regrowth sample, we found that the regrown CCM lesion contained the same somatic mutation as the original lesion. Together, these data bolster the idea that all forms of CCM have a genetic underpinning of the two-hit mutation mechanism in the known CCM genes. Recent studies have found aberrant Rho Kinase activation in inherited CCM pathogenesis, and we present evidence that this pathway is activated in sporadic CCM patients. These results suggest that all CCM patients, including those with the more common sporadic form, are potentially amenable to the same therapy.
Human molecular genetics.Hum Mol Genet.2014 Apr 3. [Epub ahead of print]
Cerebral cavernous malformations (CCMs) are vascular lesions affecting the central nervous system. CCM occurs either sporadically or in an inherited, autosomal dominant manner. Constitutional (germline) mutations in any of three genes, KRIT1, CCM2, or PDCD10, can cause the inherited form. Analysis o
PMID 24698976

Prediction of intrauterine death and severe preterm delivery in twin pregnancies discordant for major fetal abnormality.

Kang HJ1, Liao AW2, Brizot ML1, Francisco RP1, Krebs VL3, Zugaib M1.Author information 1Department of Obstetrics and Gynecology, São Paulo University Medical School, São Paulo, SP, Brazil.2Department of Obstetrics and Gynecology, São Paulo University Medical School, São Paulo, SP, Brazil. Electronic address: liao@usp.br.3Department of Pediatrics, Hospital das Clínicas, São Paulo University Medical School, São Paulo, SP, Brazil.AbstractOBJECTIVE: To investigate predictors of spontaneous fetal death and preterm delivery in twin pregnancies with one fetus affected by a major structural malformation.
European journal of obstetrics, gynecology, and reproductive biology.Eur J Obstet Gynecol Reprod Biol.2014 Apr;175:115-8. doi: 10.1016/j.ejogrb.2014.01.003. Epub 2014 Jan 11.
OBJECTIVE: To investigate predictors of spontaneous fetal death and preterm delivery in twin pregnancies with one fetus affected by a major structural malformation.STUDY DESIGN: Retrospective study (1999-2012) conducted at a tertiary teaching hospital involving 51 twin pregnancies (dichorionic=31, m
PMID 24480111