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Neural tube defect

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https://www.readbyqxmd.com/read/29142255/a-nonredundant-role-for-the-trpm6-channel-in-neural-tube-closure
#1
Yuko Komiya, Zhiyong Bai, Na Cai, Liping Lou, Namariq Al-Saadi, Courtney Mezzacappa, Raymond Habas, Loren W Runnels
In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disorder. Loss of Trpm6 in mice also perturbs cellular magnesium homeostasis but additionally results in early embryonic lethality and neural tube closure defects. To define the mechanisms by which TRPM6 influences neural tube closure, we functionally characterized the role of TRPM6 during early embryogenesis in Xenopus laevis. The expression of Xenopus TRPM6 (XTRPM6) is elevated at the onset of gastrulation and is concentrated in the lateral mesoderm and ectoderm at the neurula stage...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29141214/partitioning-of-one-carbon-units-in-folate-and-methionine-metabolism-is-essential-for-neural-tube-closure
#2
Kit-Yi Leung, Yun Jin Pai, Qiuying Chen, Chloe Santos, Enrica Calvani, Sonia Sudiwala, Dawn Savery, Markus Ralser, Steven S Gross, Andrew J Copp, Nicholas D E Greene
Abnormal folate one-carbon metabolism (FOCM) is implicated in neural tube defects (NTDs), severe malformations of the nervous system. MTHFR mediates unidirectional transfer of methyl groups from the folate cycle to the methionine cycle and, therefore, represents a key nexus in partitioning one-carbon units between FOCM functional outputs. Methionine cycle inhibitors prevent neural tube closure in mouse embryos. Similarly, the inability to use glycine as a one-carbon donor to the folate cycle causes NTDs in glycine decarboxylase (Gldc)-deficient embryos...
November 14, 2017: Cell Reports
https://www.readbyqxmd.com/read/29139138/folate-status-in-women-of-reproductive-age-as-basis-of-neural-tube-defect-risk-assessment
#3
Lynn B Bailey, Dorothy B Hausman
Reliable folate status data for women of reproductive age (WRA) to assess global risk for neural tube defects (NTDs) are needed. We focus on a recent recommendation by the World Health Organization that a specific "optimal" red blood cell (RBC) folate concentration be used as the sole indicator of NTD risk within a population and discuss how to best apply this guidance to reach the goal of assessing NTD risk globally. We also emphasize the importance of using the microbiologic assay (MBA) as the most reliable assay for obtaining comparable results for RBC folate concentration across time and countries, the need for harmonization of the MBA through use of consistent key reagents and procedures within laboratories, and the requirement to apply assay-matched cutoffs for folate deficiency and insufficiency...
November 15, 2017: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29139074/excessive-use-of-nitrogenous-fertilizers-an-unawareness-causing-serious-threats-to-environment-and-human-health
#4
Moddassir Ahmed, Muhammad Rauf, Zahid Mukhtar, Nasir Ahmad Saeed
Farmers occasionally need to add nitrogen fertilizer to their farms and gardens to make available just the precise nutrients for their plants' growth. The applications of inorganic nitrogen fertilizers to various crops have been continuously increasing since last many decades globally. Although nitrogen fertilizer contributes substantially to yield enhancement, but excessive use of this manure has posed serious threats to environment and human health. Rate of nitrogen fertilizers application has a close relationship with nitrate accumulation in surrounding environment, groundwater, as well as leafy and root vegetables...
November 14, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/29138704/caudal-regression-and-encephalocele-rare-manifestations-of-expanded-goldenhar-complex
#5
Gabriella D'Angelo, Lucia Marseglia, Salvatore Aversa, Sara Manti, Caterina Cuppari, Mariaconcetta Cutrupi, Carmelo Salpietro, Eloisa Gitto
Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known that nervous system anomalies, including encephalocele or caudal regression, may, rarely, occur in this condition. We report two rare cases of infants affected by Goldenhar Syndrome, associated with neural tube defects, specifically caudal regression syndrome and nasal encephaloceles, to underline the extremely complex and heterogeneous clinical features of this oculoauriculovertebral spectrum...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29138679/modulatory-mechanism-of-polyphenols-and-nrf2-signaling-pathway-in-lps-challenged-pregnancy-disorders
#6
REVIEW
Tarique Hussain, Bie Tan, Gang Liu, Ghulam Murtaza, Najma Rahu, Muhammad Saleem, Yulong Yin
Early embryonic loss and adverse birth outcomes are the major reproductive disorders that affect both human and animals. The LPS induces inflammation by interacting with robust cellular mechanism which was considered as a plethora of numerous reproductive disorders such as fetal resorption, preterm birth, teratogenicity, intrauterine growth restriction, abortion, neural tube defects, fetal demise, and skeletal development retardation. LPS-triggered overproduction of free radicals leads to oxidative stress which mediates inflammation via stimulation of NF-κB and PPARγ transcription factors...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/29133009/periconceptional-maternal-fever-folic-acid-intake-and-the-risk-for-neural-tube-defects
#7
Stephen M Kerr, Samantha E Parker, Allen A Mitchell, Sarah C Tinker, Martha M Werler
PURPOSE: Previous studies have shown an association between maternal fever in early pregnancy and neural tube defects (NTDs) such as spina bifida. Periconceptional folic acid intake has been shown to reduce the risk of these outcomes. METHODS: Using data from the Slone Epidemiology Center Birth Defects Study (1998-2015), we examined the impact of folic acid on the relationship between maternal fever in the periconceptional period (28 days before and after the last menstrual period) and NTDs...
November 2, 2017: Annals of Epidemiology
https://www.readbyqxmd.com/read/29129155/transgenerational-inheritance-of-familial-lipomyelomeningocele
#8
Thomas Larrew, Ramin Eskandari, Kenton R Holden, Amy Chen, Catherine J Spellicy, Julie R Jones, Jennifer A Lee, Michael J Lyons
Lipomyelomeningocele is a type of neural tube defect characterized by lipomatous tissue causing a defect in the vertebrae, infiltrating the dura, and tethering the spinal cord. Despite significant neurologic consequences, the underlying etiology remains poorly understood. We present a father and son with remarkably similar presentations of lipomyelomeningocele. Genetic testing did not reveal an underlying cause but whole exome sequencing identified variants in the ARHGAP29 and RADIL genes in the proband and his affected father...
December 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/29128408/adding-folic-acid-to-corn-masa-flour-partnering-to-improve-pregnancy-outcomes-and-reduce-health-disparities
#9
REVIEW
Alina L Flores, Amy M Cordero, Michael Dunn, Joseph E Sniezek, Miguel A Arce, Krista S Crider, Sarah Tinker, Cynthia Pellegrini, Rita Carreón, Jose Estrada, Sara Struwe, Coleen Boyle
Although strides have been made in preventing neural tube defects (NTDs), Hispanic women remain more likely to have a baby born with an NTD and less likely to know the benefits of, or consume, folic acid than women of other race/ethnic groups. In 1998, the U.S. Food and Drug Administration (FDA) mandated that all enriched cereal grain products be fortified with folic acid; however, corn masa flour (CMF), used to make many corn products that are a diet staple of many Hispanic groups, was not included under this regulation...
November 8, 2017: Preventive Medicine
https://www.readbyqxmd.com/read/29125540/is-high-folic-acid-intake-a-risk-factor-for-autism-a-review
#10
REVIEW
Darrell Wiens, M Catherine DeSoto
Folate is required for metabolic processes and neural development. Insuring its adequate levels for pregnant women through supplementation of grain-based foods with synthetic folic acid (FA) in order to prevent neural tube defects has been an ongoing public health initiative. However, because women are advised to take multivitamins containing FA before and throughout pregnancy, the supplementation together with natural dietary folates has led to a demographic with high and rising serum levels of unmetabolized FA...
November 10, 2017: Brain Sciences
https://www.readbyqxmd.com/read/29125517/genetic-epidemiology-of-neural-tube-defects
#11
Philip J Lupo, A J Agopian, Heidi Castillo, Jonathan Castillo, Gerald H Clayton, Nienke P Dosa, Betsy Hopson, David B Joseph, Brandon G Rocque, William O Walker, John S Wiener, Laura E Mitchell
It has been estimated that 60-70% of neural tube defects (NTDs) have a genetic component, but few causative genes have been identified. The lack of information on genes associated with non-syndromic NTDs in humans is especially notable as the "genomic revolution" has led to new tools (e.g., genome-wide genotyping arrays, next-generation sequencing) that are helping to elucidate the full spectrum of genetic variation (from common to rare) contributing to complex traits, including structural birth defects. However, the application of modern genomic approaches to the study of NTDs has lagged behind that of some other common structural birth defects...
October 20, 2017: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/29125506/should-the-dose-of-folic-acid-be-adjusted-for-mexican-population-the-pilot-prevention-program-implemented-in-nuevo-leon-mexico
#12
Laura E Martinez de Villarreal
In 1980 Smithells et al. reported that the intake of folic acid (FA) prevents the recurrence of neural tube defects (NTDs) [1]. After this and several other studies were conducted, the intake of 400 micrograms of folic acid per day, at least three months before and three months during pregnancy for prevention of NTD, was proposed [2,3,4]. Other strategies were also developed to increase folate blood levels in woman of childbearing age such as promoting the consumption of folate rich foods and food fortification (flour and most recently rice) [5]...
October 20, 2017: Journal of Pediatric Rehabilitation Medicine
https://www.readbyqxmd.com/read/29115376/ccdc134-serves-a-crucial-role-in-embryonic-development
#13
Biaoyi Yu, Tianzhuo Zhang, Peng Xia, Xiaoting Gong, Xiaoyan Qiu, Jing Huang
Coiled-coil domain containing 134 (CCDC134), a characterized secreted protein, may serve as an immune cytokine and illustrates its potent antitumor effects by augmenting CD8+ T-cell-mediated immunity. Additionally, CCDC134 may also act as a novel regulator of human alteration/deficiency in activation 2a, and be involved in the p300-CBP-associated factor complex and affect its acetyltransferase activity. To clarify the biological and pathological function of CCDC134, the present study generated a viable and fertile Ccdc134fl/fl mouse strain that allowed temporal and spatial control of gene ablation...
October 19, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29100869/oxidative-stress-induced-mir-27a-targets-the-redox-gene-nuclear-factor-erythroid-2-related-factor-2-in-diabetic-embryopathy
#14
Yang Zhao, Daoyin Dong, E Albert Reece, Ashley R Wang, Peixin Yang
BACKGROUND: Maternal diabetes induces neural tube defects, and oxidative stress is a causal factor for maternal diabetes-induced neural tube defects. The redox gene nuclear factor erythroid 2-related factor 2 is the master regulator of the cellular antioxidant system. OBJECTIVE: In this study, we aimed to determine whether maternal diabetes inhibits nuclear factor erythroid 2-related factor 2 expression and nuclear factor erythroid 2-related factor 2-controlled antioxidant genes through the redox-sensitive miR-27a...
November 1, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29083536/bipolar-disorder-in-pregnancy-a-review-of-pregnancy-outcomes
#15
REVIEW
Debra A Scrandis
INTRODUCTION: Women with bipolar disorder may benefit from continuation of their medications during pregnancy, but there may be risks to the fetus associated with some of these medications. This article examines the evidence relating to the effect of bipolar disorder and pharmacologic treatments for bipolar disorder on pregnancy outcomes. METHODS: MEDLINE, CINAHL, ProQuest Dissertation & Theses, and the Cochrane Database of Systematic Reviews were searched for English-language studies published between 2000 and 2017, excluding case reports and integrative reviews...
October 30, 2017: Journal of Midwifery & Women's Health
https://www.readbyqxmd.com/read/29079565/essentiality-of-regulator-of-g-protein-signaling-6-and-oxidized-ca-2-calmodulin-dependent-protein-kinase-ii-in-notch-signaling-and%C3%A2-cardiovascular-development
#16
Bandana Chakravarti, Jianqi Yang, Katelin E Ahlers-Dannen, Zili Luo, Heather A Flaherty, David K Meyerholz, Mark E Anderson, Rory A Fisher
BACKGROUND: Congenital heart defects are the most common birth defects worldwide. Although defective Notch signaling is the major cause of mouse embryonic death from cardiovascular defects, how Notch signaling is regulated during embryonic vasculogenesis and heart development is poorly understood. METHODS AND RESULTS: Regulator of G protein signaling 6 (RGS6)(-/-)/Ca(2+)/calmodulin-dependent protein kinase II (CaMKII)(VV) double mutant mice were developed by crossing RGS6(-/-) mice with mice expressing an oxidation-resistant CaMKIIδ (CaMKII(VV)), and the resulting embryonic defects/lethality were investigated using E7...
October 27, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29071735/impact-of-sample-collection-participation-on-the-validity-of-estimated-measures-of-association-in-the-national-birth-defects-prevention-study-when-assessing-gene-environment-interactions
#17
Mary M Jenkins, Jennita Reefhuis, Amy H Herring, Margaret A Honein
To better understand the impact that nonresponse for specimen collection has on the validity of estimates of association, we examined associations between self-reported maternal periconceptional smoking, folic acid use, or pregestational diabetes mellitus and six birth defects among families who did and did not submit buccal cell samples for DNA following a telephone interview as part of the National Birth Defects Prevention Study (NBDPS). Analyses included control families with live born infants who had no birth defects (N = 9,465), families of infants with anorectal atresia or stenosis (N = 873), limb reduction defects (N = 1,037), gastroschisis (N = 1,090), neural tube defects (N = 1,764), orofacial clefts (N = 3,836), or septal heart defects (N = 4,157)...
October 25, 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/29069810/the-recurrence-risk-of-neural-tube-defects-ntds-in-a-population-with-high-prevalence-of-ntds-in-northern-china
#18
Jufen Liu, Zhiwen Li, Nicholas D E Greene, Hongtian Li, Aiguo Ren
BACKGROUND: Although a number of studies have reported the recurrence risk of NTDs in developed countries, there is little data on the rate of recurrence of NTDs in northern China, a region of high prevalence of NTDs. METHODS: Based on the population-based birth defects surveillance system of five counties, we identified women who had an NTD affected pregnancy from 2004-2015 and a retrospective survey was conducted. The rate of recurrence of NTDs was calculated by the number of recurrent NTDs divided by the first NTDs...
September 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29063958/identification-and-characterization-of-a-novel-chemically-induced-allele-at-the-planar-cell-polarity-gene-vangl2
#19
Abdul-Rahman El-Hassan, Vicki Leung, Fares Kharfallah, Marie-Claude Guyot, Redouane Allache, Philippe Gros, Zoha Kibar
Planar cell polarity (PCP) signaling controls a number of morphogenetic processes including convergent extension during gastrulation and neural tube formation. Defects in this pathway cause neural tube defects (NTD), the most common malformations of the central nervous system. The Looptail (Lp) mutant mouse was the first mammalian mutant implicating a PCP gene (Vangl2) in the pathogenesis of NTD. We report on a novel chemically induced mutant allele at Vangl2 called Curly Bob that causes a missense mutation p...
October 24, 2017: Mammalian Genome: Official Journal of the International Mammalian Genome Society
https://www.readbyqxmd.com/read/29063264/neurosurgical-pathology-of-limited-dorsal-myeloschisis
#20
Takato Morioka, Satoshi O Suzuki, Nobuya Murakami, Takafumi Shimogawa, Nobutaka Mukae, Satoshi Inoha, Takakazu Sasaguri, Koji Iihara
PURPOSE: The term limited dorsal myeloschisis (LDM) was used by Pang et al. (2010) to describe a distinct clinicopathological entity. LDMs are characterized by two invariable features: a focal-closed neural tube defect and a fibroneural stalk that links the skin lesion to the underlying spinal cord. METHODS: We retrospectively analyzed the neurosurgical pathologic findings of four LDM patients. RESULTS: Case 1 had a saccular skin lesion with nonterminal abortive myelocystocele at T11-12...
October 23, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
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