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Neural tube

Giulia F Del Gobbo, E Magda Price, Courtney W Hanna, Wendy P Robinson
Background: 5,10-Methylenetetrahydrofolate reductase (MTHFR) is a key enzyme in one-carbon metabolism that ensures the availability of methyl groups for methylation reactions. Two single-nucleotide polymorphisms (SNPs) in the MTHFR gene, 677C>T and 1298A>C, result in a thermolabile enzyme with reduced function. These variants, in both the maternal and/or fetal genes, have been associated with pregnancy complications including miscarriage, neural tube defects (NTDs), and preeclampsia (PE), perhaps due to altered capacity for DNA methylation (DNAm)...
2018: Clinical Epigenetics
William Abouhassan, John Kuang Chao, Ananth S Murthy
BACKGROUND: Craniosynostosis is an uncommon complication after shunting procedures for congenital hydrocephalus. We report a case of a child with myelomeningocele and normocephaly at the time of birth. She underwent ventricular shunting for Chiari malformation and hydrocephalus at 3 days of age. An immediate postoperative CT scan confirmed all sutures were open. Serial CT scans document an open metopic suture at 2 months, closed metopic suture at 5 months, and trigonocephaly at 11 months with concomitant slit ventricle syndrome, and collapsed lateral and third ventricles...
March 20, 2018: Journal of Craniofacial Surgery
Robert Freedman, Sharon K Hunter, M Camille Hoffman
Genes, infection, malnutrition, and other factors affecting fetal brain development are a major component of risk for a child's emotional development and later mental illnesses, including schizophrenia, bipolar disorder, and autism. Prenatal interventions to ameliorate that risk have yet to be established for clinical use. A systematic review of prenatal nutrients and childhood emotional development and later mental illness was performed. Randomized trials of folic acid, phosphatidylcholine, and omega-3 fatty acid supplements assess effects of doses beyond those adequate to remedy deficiencies to promote normal fetal development despite genetic and environmental risks...
March 21, 2018: American Journal of Psychiatry
Jérome Chal, Ziad Al Tanoury, Masayuki Oginuma, Philippe Moncuquet, Bénédicte Gobert, Ayako Miyanari, Olivier Tassy, Getzabel Guevara, Alexis Hubaud, Agata Bera, Olga Sumara, Jean-Marie Garnier, Leif Kennedy, Marie Knockaert, Barbara Gayraud-Morel, Shahragim Tajbakhsh, Olivier Pourquié
Body skeletal muscles derive from the paraxial mesoderm, which forms in the posterior region of the embryo. Using microarrays, we characterize novel mouse presomitic mesoderm (PSM) markers and show that, unlike the abrupt transcriptome reorganization of the PSM, neural tube differentiation is accompanied by progressive transcriptome changes. The early paraxial mesoderm differentiation stages can be efficiently recapitulated in vitro using mouse and human pluripotent stem cells. While Wnt activation alone can induce posterior PSM markers, acquisition of a committed PSM fate and efficient differentiation into anterior PSM Pax3+ identity further requires BMP inhibition to prevent progenitors from drifting to a lateral plate mesoderm fate...
March 19, 2018: Development
Ashley J Robinson, M Ashraf Ederies
This paper is based on a literature review from 2011 to 2016. The paper is divided into two main sections. The first section relates to technical advances in fetal imaging techniques, including fetal motion compensation, imaging at 3.0 T, 3-D T2-weighted MRI, susceptibility-weighted imaging, computed tomography, morphometric analysis, diffusion tensor imaging, spectroscopy and fetal behavioral assessment. The second section relates to clinical updates, including cerebral lamination, migrational anomalies, midline anomalies, neural tube defects, posterior fossa anomalies, sulcation/gyration and hypoxic-ischemic insults...
April 2018: Pediatric Radiology
Ellen V S Hessel, Yvonne C M Staal, Aldert H Piersma
Developmental neurotoxicity entails one of the most complex areas in toxicology. Animal studies provide only limited information as to human relevance. A multitude of alternative models have been developed over the years, providing insights into mechanisms of action. We give an overview of fundamental processes in neural tube formation, brain development and neural specification, aiming at illustrating complexity rather than comprehensiveness. We also give a flavor of the wealth of alternative methods in this area...
March 12, 2018: Toxicology and Applied Pharmacology
Fernando A Poletta, Monica Rittler, Cesar Saleme, Hebe Campaña, Juan A Gili, Mariela S Pawluk, Lucas G Gimenez, Viviana R Cosentino, Eduardo E Castilla, Jorge S López-Camelo
BACKGROUND: Historically, neural tube defects (NTDs) have predominated in female infants but the reasons remain unclear. In South America, the pre- folic acid fortification (FAF) rates of NTDs were around 18/10,000 births for females and 12/10,000 births for males, with an estimated sex ratio (male/female) of 0.67. During the post- FAF period, unpublished routine reports have indicated changes in the sex ratio for these defects while some descriptive reports are controversial. To date and to our knowledge, however, no studies specifically focusing on these changes to test this hypothesis directly have been undertaken...
2018: PloS One
Hongyuan Zhu, Romain Vial, Shijian Lu, Xi Peng, Huazhu Fu, Yonghong Tian, Xianbin Cao
In this paper, we propose YoTube-a novel deep learning framework for generating action proposals in untrimmed videos, where each action proposal corresponds to a spatial-temporal tube that potentially locates one human action. Most of the existing works generate proposals by clustering low-level features or linking image proposals, which ignore the interplay between long-term temporal context and short-term cues. Different from these works, our method considers the interplay by designing a new recurrent YoTube detector and static YoTube detector...
June 2018: IEEE Transactions on Image Processing: a Publication of the IEEE Signal Processing Society
Vijaya Kancherla, Sarah Zimmerman
OBJECTIVES: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. METHODS: We examined folic acid fortification characteristics in countries as of September 2017...
March 13, 2018: Birth Defects Research
Lorenzo D Botto, Pierpaolo Mastroiacovo
Preventing neural tube defects (NTDs) easily qualifies as a high-value opportunity to improve childhood survival and health: the unmet need is significant (major preventable burden), the intervention is transformative (providing sufficient folic acid), and delivery strategies (e.g., fortification) are effective in low-resource countries. Yet, NTD prevention is lagging. Can public health surveillance help fix this problem? Critics contend that surveillance is largely unnecessary, that limited resources are best spent on interventions, and that surveillance is unrealistic in developing countries...
February 2018: Annals of the New York Academy of Sciences
Homero Martinez, Aliki P Weakland, Lynn B Bailey, Lorenzo D Botto, Luz Maria De-Regil, Kenneth H Brown
As infectious disease control programs achieve increasing success, further reductions in child mortality in low- and middle-income countries (LMICs) will require focused prevention strategies for birth defects and other noninfectious diseases. Neural tube defects (NTDs) can cause early death or lifelong disability. Preventing NTDs provides a feasible, significant opportunity to decrease the toll of birth defects and contribute to further reducing child mortality globally. The Micronutrient Forum convened a technical consultation on Folate Status in Women and Neural Tube Defects Prevention to develop a roadmap to inform and prioritize investments in NTD prevention in LMICs; help guide implementation efforts in terms of the feasibility of interventions and the potential for acceleration; and identify research and knowledge gaps...
February 2018: Annals of the New York Academy of Sciences
Vijaya Kancherla, Robert E Black
Neural tube defects (NTD) are major congenital malformations affecting births worldwide. NTD are associated with life-long disability, significant medical care costs, and child mortality. Their prevalence varies worldwide. We conducted a review of published literature and surveillance systems to examine challenges in estimating an overall global prevalence estimate for NTD. Our review showed that most low- and middle-income countries do not track NTD and indicate a high prevalence of these malformations where data are available...
February 2018: Annals of the New York Academy of Sciences
Thomas Theis, Anmol Singh Johal, Maciej Kabat, Sayantani Basak, Melitta Schachner
Glycosylation fine-tunes signal transduction of adhesion molecules during neural development and supports synaptic plasticity and repair after injury in the adult nervous system. One abundantly expressed neural glycan is LewisX (LeX). Although it is known that its expression starts at the formation of the neural tube during the second embryonic week in the mouse and peaks during the first postnatal week, its functional relevance is only rudimentarily understood. To gain better insights into the functions of this glycan, we identified small organic compounds that mimic structurally and functionally this glycan glycosidically linked to several neural adhesion molecules...
March 8, 2018: Molecular Neurobiology
Jessica Baker, Cheryl Shuman, David Chitayat, Syed Wasim, Nan Okun, Johannes Keunen, Renee Hofstedter, Rachel Silver
The introduction of chromosomal microarray (CMA) into the prenatal setting has involved considerable deliberation due to the wide range of possible outcomes (e.g., copy number variants of uncertain clinical significance). Such issues are typically discussed in pre-test counseling for pregnant women to support informed decision-making regarding prenatal testing options. This research study aimed to assess the level of informed decision-making with respect to prenatal CMA and the factor(s) influencing decision-making to accept CMA for the selected prenatal testing procedure (i...
March 7, 2018: Journal of Genetic Counseling
Florence A Giger, Corinne Houart
As the embryonic ectoderm is induced to form the neural plate, cells inside this epithelium acquire restricted identities that will dictate their behavior and progressive differentiation. The first behavior adopted by most neural plate cells is called neurulation, a morphogenetic movement shaping the neuroepithelium into a tube. One cell population is not adopting this movement: the eye field. Giving eye identity to a defined population inside the neural plate is therefore a key neural fate decision. While all other neural population undergo neurulation similarly, converging toward the midline, the eye field moves outwards, away from the rest of the forming neural tube, to form vesicles...
2018: Frontiers in Neuroscience
Leticia Bignardi, Talita Prates, Andiara De Rossi, Paulo Nelson-Filho, Fabrício Kitasono de Carvalho, Talitha de Siqueira Mellara, Alexandra Mussolino de Queiroz
Myelomeningocele (MMC) is a congenital malformation that occurs in the embryonic period, characterized by failure in closure of the caudal portion of the neural tube during central nervous system formation. Alterations and complications can be associated with this condition, such as hydrocephalus, neurogenic bladder, orthopedic problems, and motor and cognitive impairment. This patients with MMC also have predisposition to develop latex allergy and high caries risk and activity due to deficient oral hygiene, fermentable carbon hydrate-rich diet and prolonged use of sugar-containing oral medications...
March 7, 2018: Special Care in Dentistry
Steven W Bailey, June E Ayling
Despite efforts to increase folic acid (FA) intake, even within countries mandating FA fortification, there remain pregnant women with folate levels inadequate to minimize congenital disorders (e.g., of the neural tube, heart, and lip/palate). The pharmacokinetics of FA and [6S]-5-methyltetrahydrofolate (5-MTHF) were examined to find a reliable and minimal dose for rapidly rescuing folate status prior to critical periods of embryonic development. Serum total folate increased much more rapidly over the first four days in insufficient women given 7...
March 6, 2018: Scientific Reports
Lexy M Kindt, Alicia R Coughlin, Tianna R Perosino, Haley Ersfeld, Marshall Hampton, Jennifer O Liang
Anencephaly is a fatal human neural tube defect (NTD) in which the anterior neural tube remains open. Zebrafish embryos with reduced Nodal signaling display an open anterior neural tube phenotype that is analogous to anencephaly. Previous work from our laboratory suggests that Nodal signaling acts through induction of the head mesendoderm and mesoderm. Head mesendoderm/mesoderm then, through an unknown mechanism, promotes formation of the polarized epithelium which is capable of undergoing the movements required for closure...
February 27, 2018: Genesis: the Journal of Genetics and Development
Suneeti Gupta, Jayapalli Rajiv Bapuraj, Gabrielle Carlson, Emily Trumpower, Ronald E Dechert, Subrata Sarkar
BACKGROUND: Asphyxiated infants treated with therapeutic cooling can have persistent oral feeding difficulty because of involvement of neural pathways in the brainstem, cortex, and basal ganglia. The goal is to predict the composite adverse outcome of death or persistent oral feeding difficulty using precooling/cooling attributes, and the severity and distribution of hypoxic-ischemic lesions, especially brainstem lesions on post-cooling brain magnetic resonance imaging (MRI). METHODS: Retrospective review of 86 asphyxiated infants cooled from January 2006 to August 2014...
February 27, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
Jill Demirci, Erin Caplan, Beverly Brozanski, Debra Bogen
OBJECTIVE: To describe the experience of breastfeeding (inclusive of breast milk expression/pumping, provision of breast milk via devices, and at-breastfeeding) among mothers of newborns with complex congenital surgical anomalies and the contexts under which pro-breastfeeding behaviors and attitudes are facilitated or compromised. STUDY DESIGN: We used qualitative description to analyze 23 interviews conducted with 15 mothers of newborns undergoing surgery for gastrointestinal, cardiac, or neural tube defects...
February 27, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
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