32,086 results match your criteria Neural Tube Defects


Bhlhe40/Sirt1 Axis-Regulated Mitophagy Is Implicated in All- Retinoic Acid-Induced Spina Bifida Aperta.

Front Cell Dev Biol 2021 27;9:644346. Epub 2021 Apr 27.

Key Laboratory of Health Ministry for Congenital Malformation, Shengjing Hospital, China Medical University, Shenyang, China.

Neural tube defects (NTDs) are the most severe congenital malformations that result from failure of neural tube closure during early embryonic development, and the underlying molecular mechanisms remain elusive. Mitophagy is the best-known way of mitochondrial quality control. However, the role and regulation of mitophagy in NTDs have not yet been elucidated. Read More

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Pregabalin Does Not Cause Midline Closure Defects But It Is Not As Innocent As Thought.

Turk Neurosurg 2020 Dec 10. Epub 2020 Dec 10.

Kahramanmaras Sutcu Imam University School of Medicine, Department of Neurosurgery, Kahramanmaraş, Turkey.

Aim: Pregabalin binds specifically to α2-δ subunits of voltage gated Ca++ channels. Tissues which are rich in these subunits are the target for possible effects and side effects of Pregabalin. The effect of Pregabalin used during pregnancy was investigated on chicken embryo model against causing neural tube closure defect and other potential effects on other organ systems which are rich in α2-δ subunits. Read More

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December 2020

AMPK/mTOR downregulated autophagy enhances aberrant endometrial decidualization in folate-deficient pregnant mice.

J Cell Physiol 2021 May 7. Epub 2021 May 7.

Laboratory of Reproductive Biology, College of Public Health and Administration, Chongqing Medical University, Chongqing, PR China.

Existing evidence suggests that adverse pregnancy outcomes are closely related to dietary factors. Folate plays an important role in neural tube formation and fetal growth, folate deficiency is a major risk factor of birth defects. Our early studies showed that folate deficiency could impair enddecidualization, however, the mechanism is still unclear. Read More

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[A Case of Bladder Squamous Cell Carcinoma with Neurogenic Bladder Caused by Myelomeningocele].

Hinyokika Kiyo 2021 Mar;67(3):103-107

The Department of Urology, enpan Community Health-Care Organization Hoshigaoka Medical Center.

A 38-year-old woman with neurogenic bladder caused by myelomeningocele,who had been on clean intermittent self-catheterization for years,complained of gross hematuria. Computerized tomography, urinary cytology and cystoscopy failed to reveal causative lesions and the hematuria ceased spontaneously. Because gross hematuria recurred 2 years later,we examined the patient again and detected calcification of the urinary bladder. Read More

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Single and mixed effects of metallic elements in maternal serum during pregnancy on risk for fetal neural tube defects: A Bayesian kernel regression approach.

Environ Pollut 2021 Apr 22;285:117203. Epub 2021 Apr 22.

Institute of Reproductive and Child Health/National Health Commission Key Laboratory of Reproductive Health, Peking University, Beijing, China; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, China; Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China. Electronic address:

Studies of the association between prenatal exposure to metal elements and risk for neural tube defects (NTDs) have produced inconsistent results. Little research has examined the joint effects and interactions of multiple elements. This study examined 273 women with NTD-affected pregnancies and 477 controls. Read More

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A scoping review of research on policies to address child undernutrition in the Millennium Development Goals era.

Public Health Nutr 2021 Apr 30:1-23. Epub 2021 Apr 30.

Centre for Global Child Health, Hospital for Sick Children, Canada.

Objective: The breadth of research on the impact of nutrition-specific policies to address child undernutrition is not well documented. This review maps the evidence base and identifies evidence gaps on such policies.

Design: We systematically searched Medline, Embase, PAIS Index for public policy, Scopus, and Web of Science databases for public policy to identify eligible studies. Read More

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Effects of Periconceptional Multivitamin Supplementation on Folate and Homocysteine Levels Depending on Genetic Variants of Methyltetrahydrofolate Reductase in Infertile Japanese Women.

Nutrients 2021 Apr 20;13(4). Epub 2021 Apr 20.

Center for Reproductive Medicine and Implantation Research, Sugiyama Clinic Shinjuku, Tokyo 116-0023, Japan.

Methylenetetrahydrofolate reductase (MTHFR) has various polymorphisms, and the effects of periconceptional folic acid supplementation for decreasing neural tube defects (NTDs) risk differ depending on the genotypes. This study analyzed the effectiveness of multivitamin supplementation on folate insufficiency and hyperhomocysteinemia, depending on MTHFR polymorphisms. Of 205 women, 72 (35. Read More

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Impact of Voluntary Folic Acid Fortification of Corn Masa Flour on RBC Folate Concentrations in the U.S. (NHANES 2011-2018).

Nutrients 2021 Apr 16;13(4). Epub 2021 Apr 16.

Centers for Disease Control and Prevention, National Center on Birth Defects and Developmental Disabilities, Atlanta, GA 30341, USA.

Surveillance data have highlighted continued disparities in neural tube defects (NTDs) by race-ethnicity in the United States. Starting in 2016, the Food and Drug Administration (FDA) authorized voluntary folic acid fortification of corn masa flour to reduce the risk of neural tube defects (NTDs) among infants of Hispanic women of reproductive age. To assess the impact of voluntary corn masa fortification, cross-sectional data from the National Health and Nutrition Examination Survey (NHANES) 2011-2018 for Hispanic women of reproductive age with available red blood cell (RBC) folate concentrations were analyzed, with additional analyses conducted among Hispanic women whose sole source of folic acid intake was fortified foods (enriched cereal grain products (ECGP) only), excluding ready-to-eat cereals and supplements. Read More

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Outflow Tract Formation-Embryonic Origins of Conotruncal Congenital Heart Disease.

J Cardiovasc Dev Dis 2021 Apr 9;8(4). Epub 2021 Apr 9.

Aix-Marseille Université, INSERM, MMG, U1251, 27 boulevard Jean Moulin, 13005 Marseille, France.

Anomalies in the cardiac outflow tract (OFT) are among the most frequent congenital heart defects (CHDs). During embryogenesis, the cardiac OFT is a dynamic structure at the arterial pole of the heart. Heart tube elongation occurs by addition of cells from pharyngeal, splanchnic mesoderm to both ends. Read More

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Early loss of Scribble affects cortical development, interhemispheric connectivity and psychomotor activity.

Sci Rep 2021 Apr 27;11(1):9106. Epub 2021 Apr 27.

Université de Bordeaux, INSERM, Neurocentre Magendie, U1215, 33077, Bordeaux, France.

Neurodevelopmental disorders arise from combined defects in processes including cell proliferation, differentiation, migration and commissure formation. The evolutionarily conserved tumor-suppressor protein Scribble (Scrib) serves as a nexus to transduce signals for the establishment of apicobasal and planar cell polarity during these processes. Human SCRIB gene mutations are associated with neural tube defects and this gene is located in the minimal critical region deleted in the rare Verheij syndrome. Read More

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Risk factors associated to neural tube defects among mothers who gave birth in North Shoa Zone Hospitals, Amhara Region, Ethiopia 2020: Case control study.

PLoS One 2021 26;16(4):e0250719. Epub 2021 Apr 26.

Epidemiology Department, Institute of Health Science, Jimma University, Jimma, Ethiopia.

Introduction: Neural tube defects affect the brain and the spinal cord of the developing embryo. The defects occur due to incomplete or failure of closure of the neural tube. The condition eventually causes death and lifelong disability. Read More

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Birth prevalence of neural tube defects and associated risk factors in Africa: a systematic review and meta-analysis.

BMC Pediatr 2021 Apr 21;21(1):190. Epub 2021 Apr 21.

Department of Internal Medicine, College of Medicine and Health Sciences, School of Medicine, University of Gondar, Gondar, Amhara, Ethiopia.

Background: Neural tube defects are common congenital anomalies that result from early malformation in the development of the spinal cord and brain. It is related to substantial mortality, morbidity, disability, and psychological and economic costs. The aim of this review is to determine the pooled birth prevalence of neural tube defects and associated risk factors in Africa. Read More

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The identification and validity of congenital malformation diagnoses in UK electronic health records: A systematic review.

Pharmacoepidemiol Drug Saf 2021 Apr 21. Epub 2021 Apr 21.

Faculty of Epidemiology and Population Health, London School of Hygiene and Tropical Medicine, London, UK.

Purpose: To describe the methods used to identify and validate congenital malformation diagnoses recorded in UK electronic health records, and the results of validation studies.

Methods: Medline and Embase were searched for publications between 1987 and 2019 that involved identifying congenital malformations from UK electronic health records using diagnostic codes. The methods and code-lists used to identify congenital malformations, and the methods and results of validations, were examined. Read More

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Cell intercalation driven by SMAD3 underlies secondary neural tube formation.

Dev Cell 2021 Apr;56(8):1147-1163.e6

Instituto de Biología Molecular de Barcelona, CSIC, Parc Científic de Barcelona, C/Baldiri i Reixac 20, Barcelona 08028, Spain. Electronic address:

Body axis elongation is a hallmark of the vertebrate embryo, involving the architectural remodeling of the tail bud. Although it is clear how neuromesodermal progenitors (NMPs) contribute to embryo elongation, the dynamic events that lead to de novo lumen formation and that culminate in the formation of a 3-dimensional, neural tube from NMPs, are poorly understood. Here, we used in vivo imaging of the chicken embryo to show that cell intercalation downstream of TGF-β/SMAD3 signaling is required for secondary neural tube formation. Read More

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Modification of the association between diabetes and birth defects by obesity, National Birth Defects Prevention Study, 1997-2011.

Birth Defects Res 2021 Apr 19. Epub 2021 Apr 19.

National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.

Background: Maternal pregestational diabetes and obesity are risk factors for birth defects. Diabetes and obesity often occur together; it is unclear whether their co-occurrence compounds birth defect risk.

Methods: We analyzed 1997-2011 data on 29,671 cases and 10,963 controls from the National Birth Defects Prevention Study, a multisite case-control study. Read More

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Identification of new candidate genes for spina bifida through exome sequencing.

Childs Nerv Syst 2021 Apr 15. Epub 2021 Apr 15.

Unità di Genetica Medica, Università Campus Bio-Medico, Roma, Italia.

Purpose: Neural tube defects are a group of birth defects caused by failure of neural tube closure during development. The etiology of NTD, requiring a complex interaction between environmental and genetic factors, is not well understood.

Methods: We performed whole-exome sequencing (WES) in six trios, with a single affected proband with spina bifida, to identify rare/novel variants as potential causes of the NTD. Read More

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Signaling Drives Correlated Changes in Facial Morphology and Brain Shape.

Front Cell Dev Biol 2021 29;9:644099. Epub 2021 Mar 29.

Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, CA, United States.

Canonical Wnt signaling plays multiple roles critical to normal craniofacial development while its dysregulation is known to be involved in structural birth defects of the face. However, when and how Wnt signaling influences phenotypic variation, including those associated with disease, remains unclear. One potential mechanism is via Wnt signaling's role in the patterning of an early facial signaling center, the frontonasal ectodermal zone (FEZ), and its subsequent regulation of early facial morphogenesis. Read More

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A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.

Pan Afr Med J 2021 18;38:58. Epub 2021 Jan 18.

Siddhi Diagnostic and Research Centre, Nallasopara West, Maharashtra, India.

Arnold Chiari malformation is one of the commonest cause of congenital hydrocephalus. Cause of fetal development of cerebellar tonsils remains unknown and may be diagnosed at later in life. The association of Arnold Chiari malformation with acromesomelic dwarfism is not known. Read More

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Rare case of bilateral petrous apex cephalocele.

BMJ Case Rep 2021 Apr 14;14(4). Epub 2021 Apr 14.

Department of Urology, AIIMS Bhopal, Bhopal, Madhya Pradesh, India

The petrous apex is a pyramidal-shaped structure which is difficult to examine due to difficult anatomical location. Lesions in the petrous apex can be managed surgically or they can be incidental lesions, which are managed conservatively. Petrous apex cephaloceles (PAC) are the cystic lesion due to herniation in the Meckel's cave of temporal bone. Read More

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Two cases of neural tube defects with dolutegravir use at conception in south Brazil.

Braz J Infect Dis 2021 Mar-Apr;25(2):101572. Epub 2021 Apr 11.

Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Federal University of Rio Grande do Sul, School of Medicine, Porto Alegre, RS, Brazil. Electronic address:

Dolutegravir (DTG) is amongst the most prescribed antiretrovirals worldwide and is recommended as first line regimen in most HIV treatment guidelines. Its use, although infrequently, had been associated to an increased chance of neural tube defects (NTD) in Botswana, Africa. Herein we describe two cases of NTD in women who conceived while taking DTG as part of their antiretroviral treatment in the city of Porto Alegre, Brazil. Read More

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The role of Vitamin B12 and genetic risk factors in the etiology of neural tube defects: A systematic review.

Int J Dev Neurosci 2021 Apr 13. Epub 2021 Apr 13.

Division of Medical Education, Weill Cornell Medicine - Qatar, Doha, Qatar.

Neural tube defects (NTDs) are birth defects that arise during embryogenesis when normal neural tube closure fails to occur. According to the World Health Organization, NTDs are detected annually in approximately 300,000 neonates worldwide. The exact etiology of NTDs remains complex and poorly understood. Read More

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Gestational Folate and Folic Acid Intake among Women in Canada at Higher Risk of Pre-Eclampsia.

J Nutr 2021 Apr 13. Epub 2021 Apr 13.

OMNI Research Group, Clinical Epidemiology Program, Ottawa Hospital Research Institute, Ottawa, Ontario, Canada.

Background: Periconceptional folic acid (FA) supplementation is recommended to prevent neural tube defects; however, the extent to which recommendations are met through dietary sources and supplements is not clear.

Objectives: Our objective was to evaluate the dietary and supplemental intakes of FA in a Canadian pregnancy cohort and to determine the proportions of pregnant women exceeding the Estimated Average Requirement (EAR) and Tolerable Upper Intake Level (UL).

Methods: FACT (the Folic Acid Clinical Trial) was an international multicenter, randomized, double-blinded, placebo-controlled, phase III trial investigating FA for the prevention of pre-eclampsia in high-risk pregnancies. Read More

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Efficiency of Topical Rifampin on Infection in Open Neural Tube Defects: A randomized controlled trial.

Int J Neurosci 2021 Apr 12:1-10. Epub 2021 Apr 12.

Yuzuncu Yıl University Faculty of Medicine, division of neonatology, Van, Turkey.

Neural tube defects are the second most common congenital malformation in humans. Despite significant decreases in neural tube defects and related mortality and morbidity with recent developments, infections remain an important problem. Research on the role of topical therapy for managing neural tube defects and associated infections in the neonatal period has been limited. Read More

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Altered sacral neural crest development in Pax3 spina bifida mutants underlies deficits of bladder innervation and function.

Dev Biol 2021 Apr 9;476:173-188. Epub 2021 Apr 9.

Division of Genetic Medicine, Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA. Electronic address:

Mouse models of Spina bifida (SB) have been instrumental for identifying genes, developmental processes, and environmental factors that influence neurulation and neural tube closure. Beyond the prominent neural tube defects, other aspects of the nervous system can be affected in SB with significant changes in essential bodily functions such as urination. SB patients frequently experience bladder dysfunction and SB fetuses exhibit reduced density of bladder nerves and smooth muscle although the developmental origins of these deficits have not been determined. Read More

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Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs.

Pediatr Gastroenterol Hepatol Nutr 2021 Mar 4;24(2):238-243. Epub 2021 Mar 4.

Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea.

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Read More

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The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins: A case report of a rare congenital anomaly.

Medicine (Baltimore) 2021 Apr;100(14):e25470

College of Medicine.

Rationale: Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects.

Patient Concerns: We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins. Read More

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Metabotype analysis of Mthfd1l-null mouse embryos using desorption electrospray ionization mass spectrometry imaging.

Anal Bioanal Chem 2021 May 8;413(13):3573-3582. Epub 2021 Apr 8.

Department of Molecular Biosciences, The University of Texas at Austin, Austin, TX, 78712, USA.

Mammalian folate-dependent one-carbon (1C) metabolism provides the building blocks essential during development via amino acid interconversion, methyl-donor production, regeneration of redox factors, and de novo purine and thymidylate synthesis. Folate supplementation prevents many neural tube defects (NTDs) that occur during the embryonic process of neurulation. The mechanism by which folate functions during neurulation is not well understood, and not all NTDs are preventable by folate supplementation. Read More

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Is Essential for Specification of the Dopaminergic Neurogenesis in Zebrafish Embryos.

Mol Cells 2021 Apr;44(4):233-244

Department of Life Science, BK21 Plus Program, Graduate School, Chungnam National University, Daejeon 34134, Korea.

To define novel networks of Parkinson's disease (PD) pathogenesis, the substantia nigra pars compacta of A53T mice, where a death-promoting protein, FAS-associated factor 1 was ectopically expressed for 2 weeks in the 2-, 4-, 6-, and 8-month-old mice, and was subjected to transcriptomic analysis. Compendia of expression profiles and a hierarchical clustering heat map of differentially expressed genes associated with PD were bioinformatically generated. Transcripts level of a particular gene was fluctuated by 20, 60, and 0. Read More

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Prenatal exposure to criteria air pollutants and associations with congenital anomalies: A Lebanese national study.

Environ Pollut 2021 Mar 26;281:117022. Epub 2021 Mar 26.

Department of Environmental Health, Faculty of Health Sciences, American University of Beirut, Lebanon. Electronic address:

Maternal exposure to air pollution has been associated with a higher birth defect (BD) risk. Previous studies suffer from inaccurate exposure assessment methods, confounding individual-level variations, and classical analytical modelling. This study aimed to examine the association between maternal exposure to criteria air pollutants and BD risk. Read More

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