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Neural tube defects

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https://www.readbyqxmd.com/read/29341861/genome-wide-survey-reveals-dynamic-effects-of-folate-supplement-on-dna-methylation-and-gene-expression-during-c2c12-differentiation
#1
Yi Li, Qiang Feng, Miao Guo, Yuding Wang, Yunliang Jiang, Jinyi Xing
Folic acid supplements during pregnancy can prevent neural tube defects and other developmental abnormalities. Here, we explored the effects of folate supplement on gene expression and DNA methylation during C2C12 differentiation. Based on the folic acid concentration, this study comprised three groups: low folate (L), normal folate (N), and high-folate supplement (H). Our analyses revealed that differentiation and the mRNA expression of myogenin in C2C12 cell were enhanced by folic acid, however, the overall methylation percentage in myogenin promoter between different treatment groups was not significantly different (P>0...
January 12, 2018: Physiological Genomics
https://www.readbyqxmd.com/read/29340017/altered-gnas-imprinting-due-to-folic-acid-deficiency-contributes-to-poor-embryo-development-and-may-lead-to-neural-tube-defects
#2
Li Wang, Shaoyan Chang, Zhen Wang, Shan Wang, Junsheng Huo, Gangqiang Ding, Rui Li, Chi Liu, Shaofang Shangguan, Xiaolin Lu, Ting Zhang, Zhiyong Qiu, Jianxin Wu
Disturbed epigenetic modifications have been linked to the pathogenesis of Neural Tube Defects (NTDs) in those with folate deficiency during pregnancy. However, evidence is lacking to delineate the critical region in epigenome regulated by parental folic acid and mechanisms by which folate deficiency affects normal embryogenesis. Our data from clinical samples revealed the presence of aberrant DNA methylation in GNAS imprinting cluster in NTD samples with low folate concentrations. Results from mouse models indicated that the establishment of GNAS imprinting was influenced by both maternal and paternal folate-deficient diets...
December 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29338823/relationship-of-methylation-within-upper-stream-region-of-transcription-starts-site-of-hoxa5-gene-with-neural-tube-defects
#3
Ji Zhang, Tian Tian, De Qing Yi, Lin Lin Wang, Ai Guo Ren
Objective To investigate the relationship between the methylation level of transcription starts site (TSS) upper stream of homeobox gene and the neural tube defects (NTDs). Methods A case-control study of two stages was designed. In the first stage,10 cases and 8 controls were extracted,in whom Illumina Infinium Human Methylation 450 k genome-wide beadchip was used for the quantification of DNA methylation levels of brain and spinal tissue. In the second stage,differentially methylated region within HOXA5 gene was detected with a larger numbers of samples (52 cases and 23 controls)...
December 20, 2017: Zhongguo Yi Xue Ke Xue Yuan Xue Bao. Acta Academiae Medicinae Sinicae
https://www.readbyqxmd.com/read/29333813/body-composition-and-energy-expenditure-in-a-population-of-children-and-adolescents-with-myelomeningocele
#4
Carolina Caminiti, Carola Saure, Julieta Weglinski, Fernanda de Castro, Liliana Campmany
INTRODUCTION: Myelomeningocele is a congenital defect that occurs when the neural tube fails to close completely. It causes body composition alterations and a high prevalence of obesity. It is difficult to detect the most adequate indicator for a nutritional diagnosis due to the impossibility of recording accurate anthropometric measurements. OBJECTIVE: To describe body composition, resting energy expenditure and metabolic disorders in a population of patients with myelomeningocele managed at "Hospital Garrahan" by comparing obese patients with myelomeningocele and a control population with multifactorial obesity...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29325331/-pay-attention-to-standardinzing-classification-fo-spinal-neural-tube-defects
#5
(no author information available yet)
No abstract text is available yet for this article.
December 26, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29316543/the-use-of-external-ventricular-drainage-to-reduce-the-frequency-of-wound-complications-in-myelomeningocele-closure
#6
Michael M McDowell, Philip S Lee, Kimberly A Foster, Stephanie Greene
INTRODUCTION: Myelomeningocele (MMC) is an open neural tube defect routinely surgically closed within 48 h of birth to prevent secondary infection. Up to 18% of patients experience wound complications, and 85% require shunting for hydrocephalus. We hypothesized that wound complications could be reduced by cerebrospinal fluid (CSF) diversion at the time of closure. METHODS: Institutional review board approval was obtained to review records of the 88 patients who underwent MMC closure between January 2005 and June 2016 at the Children's Hospital of Pittsburgh...
January 10, 2018: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29310516/assessment-of-squalene-eligibility-in-bettering-some-maternal-and-fetal-disorders-instigated-by-gamma-irradiation-of-rats-at-mid-gestation
#7
M F Ibrahim, N Abdelaziz
Squalene is an eminent vital part of the synthesis of steroid hormones in the body as well as the first specific intermediate in cholesterol biosynthesis that plays an essential role in normal embryogenesis. PURPOSE: The present work was designed to test the maternal and embryonic response to the modulating capacity of Squalene (0.4 mL/kg/day), when supplemented to rats from Day 1-18 of pregnancy, against the damaging consequences induced by maternal subjection to 3 Gy gamma irradiation on Day 10 post conception...
January 9, 2018: International Journal of Radiation Biology
https://www.readbyqxmd.com/read/29303457/letter-to-the-editor-family-history-of-neural-tube-defects
#8
Edward O Komolafe, Ibironke O Ogunbameru, Chiazor U Onyia, Oluwafemi F Owagbemi, Fred S Ige-Orhionkpaibima
No abstract text is available yet for this article.
January 5, 2018: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/29297599/genetic-contribution-of-retinoid-related-genes-to-neural-tube-defects
#9
Huili Li, Jing Zhang, Shuyuan Chen, Fang Wang, Ting Zhang, Lee Niswander
Rare variants are considered underlying causes of complex diseases. The complex and severe group of disorders called neural tube defects (NTDs) results from failure of the neural tube to close during early embryogenesis. Neural tube closure requires the coordination of numerous signaling pathways, including the precise regulation of retinoic acid (RA) concentration which is controlled by enzymes involved in RA synthesis and degradation. Here we used a case-control mutation screen study to reveal rare variants in retinoid related genes in a Han Chinese NTD population by sequencing six genes in 355 NTD cases and 225 controls...
January 3, 2018: Human Mutation
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#10
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29284599/spinal-arteriovenous-vascular-malformations-in-patients-with-neural-tube-defects
#11
E Giordan, C Bortolotti, G Lanzino, W Brinjikji
BACKGROUND AND PURPOSE: Neural tube defects, such as tethered cord, intradural lipoma, or myelomeningocele may coexist with spinal vascular malformations. The coexistence of these 2 rare entities is suggestive of a causal relationship between them, which may lead to further understanding of their pathogenesis. We present a series of 6 patients with epidural spinal arteriovenous fistulas associated with neural tube defects. MATERIALS AND METHODS: We retrieved cases of spinal vascular malformations associated with neural tube defects seen at our institution...
December 28, 2017: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29258758/inhibition-of-thymidylate-synthase-affects-neural-tube-development-in-mice
#12
Xiuwei Wang, Zhen Guan, Yanting Dong, Zhiqiang Zhu, Jianhua Wang, Bo Niu
Thymidylate synthase (TYMS) is a key enzyme in the de novo synthesis of 2'-deoxythymidine-5'-monophosphate (dTMP) from 2'-deoxyuridine-5'-monophosphate (dUMP). Our aim was to investigate the role of dTMP dysmetabolism via inhibition of TYMS by an inhibitor, 5-fluorouracil (5-FU) in the occurrence of neural tube defects (NTDs). We found that a high incidence of NTDs occurred after treatment with 5-FU at 12.5 mg/kg body weight. TYMS activity was significantly inhibited with decreased dTMP and accumulation of dUMP after 5-FU injection...
December 16, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/29242584/mis-expression-of-grainyhead-like-transcription-factors-in-zebrafish-leads-to-defects-in-enveloping-layer-evl-integrity-cellular-morphogenesis-and-axial-extension
#13
Lee B Miles, Charbel Darido, Jan Kaslin, Joan K Heath, Stephen M Jane, Sebastian Dworkin
The grainyhead-like (grhl) transcription factors play crucial roles in craniofacial development, epithelial morphogenesis, neural tube closure, and dorso-ventral patterning. By utilising the zebrafish to differentially regulate expression of family members grhl2b and grhl3, we show that both genes regulate epithelial migration, particularly convergence-extension (CE) type movements, during embryogenesis. Genetic deletion of grhl3 via CRISPR/Cas9 results in failure to complete epiboly and pre-gastrulation embryonic rupture, whereas morpholino (MO)-mediated knockdown of grhl3 signalling leads to aberrant neural tube morphogenesis at the midbrain-hindbrain boundary (MHB), a phenotype likely due to a compromised overlying enveloping layer (EVL)...
December 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29232014/mutations-of-the-glycine-cleavage-system-genes-possibly-affect-the-negative-symptoms-of-schizophrenia-through-metabolomic-profile-changes
#14
Akane Yoshikawa, Fumichika Nishimura, Aya Inai, Yosuke Eriguchi, Masaki Nishioka, Atsuhiko Takaya, Mamoru Tochigi, Yoshiya Kawamura, Tadashi Umekage, Kayoko Kato, Tsukasa Sasaki, Yoshiaki Ohashi, Kazuya Iwamoto, Kiyoto Kasai, Chihiro Kakiuchi
AIM: Hypofunction of N-methyl-D-aspartate receptors (NMDARs) may contribute to the pathophysiology of schizophrenia (SCZ). Recently, the glycine cleavage system (GCS) was shown to affect NMDAR function in the brain. GCS functional defects cause nonketotic hyperglycinemia (NKH), the atypical phenotype of which presents psychiatric symptoms similar to SCZ. Here, we examined the involvement of GCS in SCZ. METHODS: First, to identify the rare variants and the exonic deletions, we re-sequenced all the coding exons and the splice sites of four GCS genes (GLDC, AMT, GCSH, DLD) in 474 patients with SCZ and 475 controls and performed multiplex ligation-dependent probe amplification (MLPA) analysis in SCZ...
December 12, 2017: Psychiatry and Clinical Neurosciences
https://www.readbyqxmd.com/read/29230691/beta-blocker-use-in-pregnancy-and-risk-of-specific-congenital-anomalies-a-european-case-malformed-control-study
#15
Jorieke E H Bergman, L Renée Lutke, Rijk O B Gans, Marie-Claude Addor, Ingeborg Barisic, Clara Cavero-Carbonell, Ester Garne, Miriam Gatt, Kari Klungsoyr, Nathalie Lelong, Catherine Lynch, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Anke Rissmann, David Tucker, Awi Wiesel, Helen Dolk, Maria Loane, Marian K Bakker
INTRODUCTION: The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy. OBJECTIVE: The objective of this study was to investigate whether first-trimester use of beta-blockers increases the risk of specific congenital anomalies in offspring. METHODS: A population-based case-malformed control study was conducted in 117,122 registrations of congenital anomalies from 17 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) registries participating in EUROmediCAT with data for all or part of the period between 1995 and 2013...
December 11, 2017: Drug Safety: An International Journal of Medical Toxicology and Drug Experience
https://www.readbyqxmd.com/read/29229982/myosin-x-knockout-is-semi-lethal-and-demonstrates-that-myosin-x-functions-in-neural-tube-closure-pigmentation-hyaloid-vasculature-regression-and-filopodia-formation
#16
Ernest G Heimsath, Yang-In Yim, Mirna Mustapha, John A Hammer, Richard E Cheney
Myosin-X (Myo10) is an unconventional myosin best known for its striking localization to the tips of filopodia. Despite the broad expression of Myo10 in vertebrate tissues, its functions at the organismal level remain largely unknown. We report here the generation of KO-first (Myo10 tm1a/tm1a ), floxed (Myo10 tm1c/tm1c ), and KO mice (Myo10 tm1d/tm1d ). Complete knockout of Myo10 is semi-lethal, with over half of homozygous KO embryos exhibiting exencephaly, a severe defect in neural tube closure. All Myo10 KO mice that survive birth exhibit a white belly spot, all have persistent fetal vasculature in the eye, and ~50% have webbed digits...
December 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29225143/valproic-acid-disrupts-the-biomechanics-of-late-spinal-neural-tube-closure-in-mouse-embryos
#17
Amy Hughes, Nicholas D E Greene, Andrew J Copp, Gabriel L Galea
Failure of neural tube closure in the early embryo causes neural tube defects including spina bifida. Spina bifida lesions predominate in the distal spine, particularly after exposure to the anticonvulsant valproic acid (VPA). How VPA specifically disturbs late stages of neural tube closure is unclear, as neurulation is usually viewed as a uniform 'zippering' process along the spine. We recently identified a novel closure site ("Closure 5") which forms at the caudal extremity of the mouse posterior neuropore (PNP) when completion of closure is imminent...
December 7, 2017: Mechanisms of Development
https://www.readbyqxmd.com/read/29222906/low-maternal-folate-concentrations-and-maternal-mthfr-c677t-polymorphism-are-associated-with-an-increased-risk-for-neural-tube-defects-in-offspring-a-case-control-study-among-pakistani-case-and-control-mothers
#18
Nuzhat Nauman, Samina Jalali, Sajjad Shami, Shireen Rafiq, Greta Große, Alina C Hilger, Rhong Zhang, Saira Mansoor, Michael Ludwig, Heiko Reutter
BACKGROUND AND OBJECTIVES: There is considerable evidence that periconceptional maternal folate deficiency and coding variants in maternal genes coding for critical enzymes in the folate pathway are associated with neural tube defects (NTDs) in offspring. In a case-control study we investigated C677T polymorphism in the 5,10- methylenetetrahydrofolate reductase (MTHFR) gene in case and control mothers of Pakistani origin, and compared these with the respective maternal folate concentrations measured at the time of delivery...
2018: Asia Pacific Journal of Clinical Nutrition
https://www.readbyqxmd.com/read/29216556/influence-of-water-activity-and-temperature-on-growth-and-fumonisin-production-by-fusarium-proliferatum-strains-on-irradiated-wheat-grains
#19
Eugenia Cendoya, María Del Pilar Monge, Stella Maris Chiacchiera, María Cecilia Farnochi, María Laura Ramirez
Wheat is the most important cereal consumed by the Argentine population. In previous studies performed in durum and common wheat grains in this country it has been observed fumonisin contamination as well as high incidence of Fusarium proliferatum. Fumonisins are toxic fungal metabolites, and consumption of fumonisin-contaminated maize has been epidemiologically associated with oesophageal cancer and neural tube defects in some human populations. Using irradiated wheat-grains, the effects of abiotic factors, temperature (15, 25, and 30°C) and water activity (aW; 0...
December 4, 2017: International Journal of Food Microbiology
https://www.readbyqxmd.com/read/29215383/mood-stabilizing-anticonvulsants-spina-bifida-and-folate-supplementation-commentary
#20
Neil Patel, Adele C Viguera, Ross J Baldessarini
PURPOSE/BACKGROUND: High risks of neural tube defects and other teratogenic effects are associated with exposure in early pregnancy to some anticonvulsants, including in women with bipolar disorder. METHODS/PROCEDURES: Based on a semistructured review of recent literature, we summarized findings pertaining to this topic. FINDINGS/RESULTS: Valproate and carbamazepine are commonly used empirically (off-label) for putative long-term mood-stabilizing effects...
February 2018: Journal of Clinical Psychopharmacology
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