30,184 results match your criteria Neural Tube Defects


Clomiphene citrate and neural tube defects: a meta-analysis of controlled observational studies.

BJOG 2019 Apr 21. Epub 2019 Apr 21.

Service Hospitalo-Universitaire de Pharmaco-Toxicologie, Hospices Civils de Lyon, France.

Background: At the end of the 80's several studies have suggested a potential increased risk of neural tube defects (NTDs) with ovulation induction/fertility drugs, especially with clomiphene citrate (CC). A previous meta-analysis of observational studies evaluating the risk of NTDs associated with the use of CC performed in 1995 found a risk ratio of 1.08 (95% confidence intervals (CI) 0. Read More

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http://dx.doi.org/10.1111/1471-0528.15800DOI Listing

Defining the plasma folate concentration associated with the red blood cell folate concentration threshold for optimal neural tube defects prevention: a population-based, randomized trial of folic acid supplementation.

Am J Clin Nutr 2019 Apr 21. Epub 2019 Apr 21.

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

Background: For women of reproductive age, a population-level red blood cell (RBC) folate concentration below the threshold 906 nmol/L or 400 ng/mL indicates folate insufficiency and suboptimal neural tube defect (NTD) prevention. A corresponding population plasma/serum folate concentration threshold for optimal NTD prevention has not been established.

Objective: The aim of this study was to examine the association between plasma and RBC folate concentrations and estimated a population plasma folate insufficiency threshold (pf-IT) corresponding to the RBC folate insufficiency threshold (RBCf-IT) of 906 nmol/L. Read More

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https://academic.oup.com/ajcn/advance-article/doi/10.1093/aj
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http://dx.doi.org/10.1093/ajcn/nqz027DOI Listing
April 2019
1 Read

Improved micronutrient status and health outcomes in low- and middle-income countries following large-scale fortification: evidence from a systematic review and meta-analysis.

Am J Clin Nutr 2019 Apr 17. Epub 2019 Apr 17.

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

Background: Micronutrient malnutrition is highly prevalent in low- and middle-income countries (LMICs) and disproportionately affects women and children. Although the effectiveness of large-scale food fortification (LSFF) of staple foods to prevent micronutrient deficiencies in high-income settings has been demonstrated, its effectiveness in LMICs is less well characterized. This is important as food consumption patterns, potential food vehicles, and therefore potential for impact may vary substantially in these contexts. Read More

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http://dx.doi.org/10.1093/ajcn/nqz023DOI Listing
April 2019
1 Read

Abnormal level of CUL4B-mediated histone H2A ubiquitination causes disruptive HOX gene expression.

Epigenetics Chromatin 2019 Apr 16;12(1):22. Epub 2019 Apr 16.

Beijing Municipal Key Laboratory of Child Development and Nutriomics, Capital Institute of Pediatrics, Beijing, 100020, China.

Background: Neural tube defects (NTDs) are common birth defects involving the central nervous system. Recent studies on the etiology of human NTDs have raised the possibility that epigenetic regulation could be involved in determining susceptibility to them.

Results: Here, we show that the H2AK119ub1 E3 ligase CUL4B is required for the activation of retinoic acid (RA)-inducible developmentally critical homeobox (HOX) genes in NT2/D1 embryonal carcinoma cells. Read More

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http://dx.doi.org/10.1186/s13072-019-0268-7DOI Listing
April 2019
2 Reads

A case-control analysis of maternal diet and risk of neural tube defects in Bangladesh.

Birth Defects Res 2019 Apr 15. Epub 2019 Apr 15.

Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.

Objectives: Mothers need a nutrient-rich diet for healthy neural tube development. Neural tube defect risk can be reduced through fortifying grain products with folic acid and taking folic acid supplements. Fortification is not required in Bangladesh. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1002/bdr2.1505
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http://dx.doi.org/10.1002/bdr2.1505DOI Listing
April 2019
2 Reads

[Analysis of mortality and leading causes of death in Chinese children under 5-year-old between 2010 and 2016].

Zhonghua Yu Fang Yi Xue Za Zhi 2019 Apr;53(4):411-414

National Office of Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, Chengdu 610041, China.

We collected death data of children under 5-year-old in China from the national child mortality surveillance system from 2010 to 2016. The change of mortality rate and causes of death were described. The mortality rate of Chinese children under 5-year-old decreased from 16. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0253-9624.2019.04.016DOI Listing

One-Carbon Cofactor Intake and Risk of Neural Tube Defects Among Women Who Meet Folic Acid Recommendations: A Multicenter Case-Control Study.

Am J Epidemiol 2019 Feb 19. Epub 2019 Feb 19.

Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts.

We aimed to investigate associations between individual and concurrent (≥2) intakes of one-carbon cofactors vitamins B6 and B12, choline, betaine, and methionine and neural tube defect (NTD) outcomes among mothers meeting the folic acid recommendations. In the Slone Birth Defects Study (case-control design; North America, 1998-2015), mothers of 164 NTD cases and 2,831 nonmalformed controls completed food frequency questionnaires and structured interviews. Estimated intakes of one-carbon cofactors were dichotomized (high vs. Read More

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http://dx.doi.org/10.1093/aje/kwz040DOI Listing
February 2019

Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects.

Cell Rep 2019 Apr;27(2):442-454.e5

Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC 3052, Australia; Department of Medical Biology, The University of Melbourne, Melbourne, VIC, Australia. Electronic address:

Neural tube defects (NTDs) are common birth defects in humans and show an unexplained female bias. Female mice lacking the tumor suppressor p53 display NTDs with incomplete penetrance. We found that the combined loss of pro-apoptotic BIM and p53 caused 100% penetrant, female-exclusive NTDs, which allowed us to investigate the female-specific functions of p53. Read More

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http://dx.doi.org/10.1016/j.celrep.2019.03.048DOI Listing
April 2019
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Folate of pregnant women after a nationwide folic acid supplementation in China.

Matern Child Nutr 2019 Apr 10:e12828. Epub 2019 Apr 10.

Institute of Reproductive and Child Health/National Health Commission Key Laboratory of Reproductive Health; Department of Epidemiology and Biostatistics, School of Public Health, Peking University, Beijing, P.R. China.

Folate insufficiency during the periconceptional period increases the risk of neural tube defects (NTDs) in offspring, and folic acid supplementation substantially reduces the risk. Widespread large-scale folic acid supplementation (0.4 mg folic acid tablet) has been adopted as a main strategy to prevent NTDs in China since 2009. Read More

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http://dx.doi.org/10.1111/mcn.12828DOI Listing

Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring.

Mol Genet Genomic Med 2019 Apr 9:e688. Epub 2019 Apr 9.

Department of Epidemiology, Human Genetics, and Environmental Sciences, UTHealth School of Public Health, Houston, Texas.

Background: We examined the association between the maternal genotype for celiac disease-associated variants and risk of neural tube defects (NTDs).

Methods: We conducted a case-control study, using data from the National Birth Defects Prevention Study. We evaluated 667 cases (women with an offspring with NTD) and 743 controls (women with an offspring without a birth defect). Read More

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http://dx.doi.org/10.1002/mgg3.688DOI Listing
April 2019
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Chiari malformations: principles of diagnosis and management.

BMJ 2019 Apr 8;365:l1159. Epub 2019 Apr 8.

Department of Paediatric Neurosurgery, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 9DU, UK.

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http://dx.doi.org/10.1136/bmj.l1159DOI Listing

Novel 3-D helix-flexible nerve guide conduits repair nerve defects.

Biomaterials 2019 Jul 28;207:49-60. Epub 2019 Mar 28.

Department of Orthopedic Surgery, Key Laboratory of Musculoskeletal Trauma &War Injuries PLA, Beijing Key Lab of Regenerative Medicine in Orthopedics, Chinese PLA General Hospital, Beijing, China; The Neural Regeneration Co-Innovation Center of Jiangsu Province, Nantong, China. Electronic address:

Flexible nerve guide conduits (NGCs) are desired in peripheral nerve reconstruction near the joints. Inspired by the engineered structure of the helical tube, we addressed the problems of conventional NGCs often mentioned in clinical feedback. We developed a type of helix-flexible NGC (HF-NGC) and evaluated its mechanical properties as well as its flexibility, and it performed excellently during in vitro tests. Read More

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http://dx.doi.org/10.1016/j.biomaterials.2019.03.040DOI Listing
July 2019
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Impact of prenatal arsenate exposure on gene expression in a pure population of migratory cranial neural crest cells.

Reprod Toxicol 2019 Apr 3;86:76-85. Epub 2019 Apr 3.

Department of Oral Immunology and Infectious Diseases, Division of Craniofacial Development and Anomalies, ULSD, University of Louisville, Louisville, KY 40202, United States.

Prenatal exposure to arsenic, a naturally occurring toxic element, causes neural tube defects (NTDs) and, in animal models, orofacial anomalies. Since aberrant development or migration of cranial neural crest cells (CNCCs) can also cause similar anomalies within developing embryos, we examined the effects of in utero exposure to sodium arsenate on gene expression patterns in pure populations of CNCCs, isolated by fluorescence activated cell sorting (FACS), from Cre/LoxP reporter mice. Changes in gene expression were analyzed using Affymetrix GeneChip microarrays and expression of selected genes was verified by TaqMan quantitative real-time PCR. Read More

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http://dx.doi.org/10.1016/j.reprotox.2019.04.001DOI Listing
April 2019
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Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects.

Mol Biol Rep 2019 Apr 2. Epub 2019 Apr 2.

Department of Biochemistry, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Folate is an essential micronutrient during pregnancy. The differential expression of genes related to folate transport and metabolism during the advancing gestation and pregnancy complications is not well established. Hence, we studied the gene expression of folate metabolism and transport proteins in the placenta with advancing gestation, preeclampsia and neural tube defects (NTD). Read More

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http://dx.doi.org/10.1007/s11033-019-04776-wDOI Listing
April 2019
3 Reads

V-Y Plasty or Primary Repair Closure of Myelomeningocele: Our Experience.

J Pediatr Neurosci 2018 Oct-Dec;13(4):398-403

Department of Neurosurgery, Father Muller Medical College, Mangaluru, Karnataka, India.

Background: Open neural tube defects in the spine most commonly are in the lumbo-sacral region. Surgical closure is the treatment, but in primary closure the chances of CSF leak are more. Hence a novel technique of using an advancement flap called the V-Y plasty for closure of these defects(6). Read More

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http://dx.doi.org/10.4103/JPN.JPN_40_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413606PMC
April 2019
1 Read

Risks and Benefits of Dolutegravir- and Efavirenz-Based Strategies for South African Women With HIV of Child-Bearing Potential: A Modeling Study.

Ann Intern Med 2019 Apr 2. Epub 2019 Apr 2.

Massachusetts General Hospital, Harvard Medical School, and Brigham and Women's Hospital, Boston, Massachusetts (R.P.W.).

Background: Dolutegravir is superior to efavirenz for HIV antiretroviral therapy (ART) but may be associated with an increased risk for neural tube defects (NTDs) in newborns if used by women at conception.

Objective: To project clinical outcomes of ART policies for women of child-bearing potential in South Africa.

Design: Model of 3 strategies: efavirenz for all women of child-bearing potential (EFV), dolutegravir for all women of child-bearing potential (DTG), or World Health Organization (WHO)-recommended efavirenz without contraception or dolutegravir with contraception (WHO approach). Read More

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http://dx.doi.org/10.7326/M18-3358DOI Listing
April 2019
4 Reads

Awareness of risk factors and preventive measures for neural tube defects and the Saudi population perception towards pregnancy termination as a possible option.

J Neonatal Perinatal Med 2019 Mar 29. Epub 2019 Mar 29.

College of Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, National Guard Hospital, Jeddah, Saudi Arabia.

Background: Neural tube defects (NTDs) are among the most common congenital anomalies worldwide with an incidence of 300,000/year. Spina bifida, which is the most prevalent NTD, has an incidence of 1.2/1000 live births in Saudi Arabia. Read More

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http://dx.doi.org/10.3233/NPM-17165DOI Listing
March 2019
2 Reads

Congenital anomalies in the offspring of occupationally exposed mothers: a systematic review and meta-analysis of studies using expert assessment for occupational exposures.

Hum Reprod 2019 Mar 30. Epub 2019 Mar 30.

Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Study Question: Is there an association between maternal occupational exposure to solvents, pesticides and metals as assessed by expert-based assessment and congenital anomalies in the offspring?

Summary Answer: There is an association between maternal occupational exposure to solvents and congenital anomalies in the offspring, including neural tube defects, congenital heart defects and orofacial clefts.

What Is Known Already: One important environmental risk factor for development of congenital anomalies is maternal occupational exposure to chemicals in the workplace prior to and during pregnancy. A number of studies have assessed the association with often conflicting results, possibly due to different occupational exposure assessing methods. Read More

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http://dx.doi.org/10.1093/humrep/dez033DOI Listing
March 2019
1 Read

Fetal Congenital Anomaly in Tertiary Hospital in Lagos, South-West Nigeria: A Review of Presentation and its Outcome.

West Afr J Med 2019 Jan-Apr;36(1):25-28

Department of Obstetrics and Gynaecology College of Medicine, University of Lagos.

Background: Congenital Anomalies are a major contributor to perinatal deaths worldwide. The World Health Organization (WHO) estimates that 303,000 newborns die within the first 4 weeks of life worldwide as a result of it. The exact cause is often difficult to determine and as such efforts are geared towards prevention AIM AND OBJECTIVE: This study was done to determine the common presentations as well as epidemiological features of pregnant women with anomalous fetus and at the Lagos University Teaching Hospital. Read More

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March 2019
7 Reads

Association of maternal risk factors with the recent rise of neural tube defects in Canada.

Paediatr Perinat Epidemiol 2019 03;33(2):145-153

Department of Obstetrics and Gynaecology and the School of Population and Public Health, University of British Columbia and the Children's and Women's Hospital of British Columbia, Vancouver, British Columbia, Canada.

Background: We sought to assess the recent trend in NTD prevalence at birth in the post-folic acid food fortification era and to identify the maternal risk factors associated with that trend.

Methods: We carried out a population-based study of all livebirths and stillbirths (including late pregnancy terminations) delivered in hospitals in Canada (excluding Quebec) from 2004 to 2015 (n = 3 439 330). We examined NTD birth prevalence by year, multiple pregnancy, maternal age, parity, pregestational diabetes, chronic illness, and problematic substance use. Read More

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http://dx.doi.org/10.1111/ppe.12543DOI Listing
March 2019
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A propensity-matched study of the association between optimal folic acid supplementation and birth defects in Shaanxi province, Northwestern China.

Sci Rep 2019 Mar 27;9(1):5271. Epub 2019 Mar 27.

Department of Epidemiology and Health Statistics, School of Public Health, Xi'an Jiaotong University Health Science Center, No. 76 Yanta West Road, Xi'an, Shaanxi, 710061, People's Republic of China.

The association between folic acid supplementation and birth defects other than neural tube defects remains unclear. We utilized data from a large population-based survey to examine the association between folic acid supplementation and birth defects in Northwestern China. A total of 29,204 women with infants born between 2010 and 2013 were surveyed in Shaanxi province, Northwestern China, using a stratified multistage sampling method. Read More

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http://dx.doi.org/10.1038/s41598-019-41584-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437303PMC

Derepression of sonic hedgehog signaling upon Gpr161 deletion unravels forebrain and ventricular abnormalities.

Dev Biol 2019 Mar 23. Epub 2019 Mar 23.

Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA. Electronic address:

Inverse gradients of transcriptional repressors antagonize the transcriptional effector response to morphogens. However, the role of such inverse regulation might not manifest solely from lack of repressors. Sonic hedgehog (Shh) patterns the forebrain by being expressed ventrally; however, absence of antagonizing Gli3 repressor paradoxically cause insufficient pathway activation. Read More

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http://dx.doi.org/10.1016/j.ydbio.2019.03.011DOI Listing

Evaluation of Neural Tube Defects (NTD) After Exposure to Raltegravir During Pregnancy.

J Acquir Immune Defic Syndr 2019 Mar 19. Epub 2019 Mar 19.

Department of Clinical Safety and Risk Management.

Objective: To evaluate the risk of neural tube defects (NTDs) after exposure to raltegravir during pregnancy.

Methods: Exposures to raltegravir during pregnancy reported cumulatively through 31-May-2018 to the company safety database were reviewed to identify cases of NTDs. This database includes all reports of pregnancy from Merck-sponsored clinical trials, spontaneous post-marketing and non-interventional data sources, including the Antiretroviral Pregnancy Registry (APR). Read More

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http://dx.doi.org/10.1097/QAI.0000000000002031DOI Listing
March 2019
1 Read

Commentary on "Cardiopulmonary Exercise Test Using Arm Ergometry in Children With Spina Bifida: A Prediction Model for O2peak.

Pediatr Phys Ther 2019 04;31(2):191

Netherlands Institute for Healthcare Services Research (NIVEL) and HU University of Applied Sciences Utrecht, the Netherlands De Hoogstraat Rehabilitation and HU University of Applied Sciences Utrecht, the Netherlands.

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http://dx.doi.org/10.1097/PEP.0000000000000600DOI Listing
April 2019
2 Reads

Evaluation of folic acid supplementation by concomitant administration of ethinyl estradiol + levonorgestrel in healthy female subjects
.

Int J Clin Pharmacol Ther 2019 Mar 22. Epub 2019 Mar 22.

Objectives: Folic acid supplementation prevents 50 - 75% of cases of neural tube defects. This study evaluated the folic acid supplementation after oral administration of the ethinyl estradiol 0.02 mg + levonorgestrel 0. Read More

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http://dx.doi.org/10.5414/CP203293DOI Listing
March 2019
1 Read

Spina bifida in pregnancy: A review of the evidence for preconception, antenatal, intrapartum and postpartum care.

Obstet Med 2019 Mar 17;12(1):14-21. Epub 2018 May 17.

Department of Obstetrics, Maternal and Fetal Medicine, St Thomas' Hospital, London, UK.

Women with spina bifida in pregnancy require complex multi-disciplinary management. Most women have uncomplicated pregnancies; however, complications are more frequent than in 'low risk' pregnancies. Careful antenatal planning and management of the complications can optimise outcome. Read More

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http://journals.sagepub.com/doi/10.1177/1753495X18769221
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http://dx.doi.org/10.1177/1753495X18769221DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416695PMC
March 2019
14 Reads

Posterior axis formation requires Dlx5/Dlx6 expression at the neural plate border.

PLoS One 2019 19;14(3):e0214063. Epub 2019 Mar 19.

Département Adaptations du Vivant, Centre National de la Recherche Scientifique UMR 7221, Muséum National d'Histoire Naturelle, Paris, France.

Neural tube defects (NTDs), one of the most common birth defects in human, present a multifactorial etiology with a poorly defined genetic component. The Dlx5 and Dlx6 bigenic cluster encodes two evolutionary conserved homeodomain transcription factors, which are necessary for proper vertebrate development. It has been shown that Dlx5/6 genes are essential for anterior neural tube closure, however their role in the formation of the posterior structures has never been described. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0214063PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6424422PMC
March 2019
1 Read

Real prevalence of neural tube defects in Japan: How many of such pregnancies have been terminated?

Congenit Anom (Kyoto) 2019 Mar 18. Epub 2019 Mar 18.

Department of Obstetrics and Gynecology, Kurume University Hospital, Kurume, Japan.

The vital role of folic acid is to reduce the risk of having a neonate afflicted with neural tube defects. The prevalence of neural tube defects (myelomeningocele and anencephaly) has been reported in an incomplete form over the last 40 years in Japan. We aimed to evaluate the total number of neural tube defects including those delivered or terminated, to clarify the proportion of those terminated, and to internationally compare their prevalence. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cga.12333
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http://dx.doi.org/10.1111/cga.12333DOI Listing
March 2019
6 Reads

Predicting Down syndrome and neural tube defects using basic risk factors.

Med Biol Eng Comput 2019 Mar 15. Epub 2019 Mar 15.

School of Biomedical Engineering and Health Sciences, Universiti Teknologi Malaysia, Johor, Malaysia.

Congenital anomalies are not only one of the main killers for infants but also one of the major causes of deaths under 5. Among congenital anomalies, Down syndrome or trisomy 21 (T-21) and neural tube defects (NTDs) are considered the most common. Expectant mothers in developing countries may not have access to or may not afford the advanced prenatal screening tests. Read More

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http://dx.doi.org/10.1007/s11517-019-01969-0DOI Listing
March 2019
2 Reads

Deoxyuracil in DNA and disease: Genomic signal or managed situation?

DNA Repair (Amst) 2019 May 27;77:36-44. Epub 2019 Feb 27.

Graduate Field of Biochemistry, Molecular and Cellular Biology, Cornell University, Ithaca, NY, 14853, USA; Division of Nutritional Sciences, Cornell University, 127 Savage Hall, Ithaca, NY, 14853, USA. Electronic address:

Genomic instability is implicated in the etiology of several deleterious health outcomes including megaloblastic anemia, neural tube defects, and neurodegeneration. Uracil misincorporation and its repair are known to cause genomic instability by inducing DNA strand breaks leading to apoptosis, but there is emerging evidence that uracil incorporation may also result in broader modifications of gene expression, including: changes in transcriptional stalling, strand break-mediated transcriptional upregulation, and direct promoter inhibition. The factors that influence uracil levels in DNA are cytosine deamination, de novo thymidylate (dTMP) biosynthesis, salvage dTMP biosynthesis, dUTPase, and DNA repair. Read More

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http://dx.doi.org/10.1016/j.dnarep.2019.02.014DOI Listing

Malignant Transformation of a Filum Terminale Dermoid Tumor into Adenocarcinoma.

World Neurosurg 2019 Mar 11. Epub 2019 Mar 11.

Departments of Neurosurgery.

Background: Intraspinal dermoid tumors are usually rare benign growths that occur as a result of defects during neural tube formation. They make up less than 1% of tumors in the spine and are associated with spinal dysraphisms or sinus tracts. Although rare, malignant transformation into squamous cell carcinoma has been previously reported. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.03.031DOI Listing

Atypical Presentation of Chiari I Malformation in a 13-Year-Old Adolescent.

Pediatr Emerg Care 2019 Apr;35(4):e72-e75

Department of Neurosurgery, Rutgers Robert Wood Johnson Medical School, New Brunswick, NJ.

In this report, we describe a 13-year-old with opisthotonos as the presenting symptom of Chiari I malformation. This presentation is rare and has previously been reported only in infants. We describe the physical and radiologic findings, literature regarding Chiari malformation, and differential diagnosis of opisthotonos in this patient. Read More

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http://dx.doi.org/10.1097/PEC.0000000000001801DOI Listing

Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway.

Ital J Pediatr 2019 Mar 14;45(1):37. Epub 2019 Mar 14.

Department of Pediatrics, Tianjin Children's Hospital, No.238 Longyan Road, Beichen District, Tianjin, 300134, China.

Background: Neural tube defects (NTDs) are birth defects of the brain, spine, or spinal cord invoked by the insufficient intake of folic acid in the early stages of pregnancy and have a complex etiology involving both genetic and environmental factors. So the study aimed to explore the association between alterations in maternal one-carbon metabolism and NTDs in the offspring.

Methods: We conducted a case-control study to get a deeper insight into this association, as well as into the role of genetic polymorphisms. Read More

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http://dx.doi.org/10.1186/s13052-019-0630-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416842PMC
March 2019
3 Reads

Loss of SET reveals both the p53-dependent and the p53-independent functions in vivo.

Cell Death Dis 2019 Mar 11;10(3):237. Epub 2019 Mar 11.

Institute for Cancer Genetics, Department of Pathology and Cell Biology, and Herbert Irving Comprehensive Cancer Center, College of Physicians & Surgeons, Columbia University, 1130 Nicholas Ave, New York, NY, 10032, USA.

Our previous study showed that the oncoprotein SET acts as a new reader of unacetylated p53 for transcriptional repression. To further elucidate the physiological significance of SET in vivo, we generated set knockout mice. Set knockout mice died during embryonic development between day 11. Read More

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http://dx.doi.org/10.1038/s41419-019-1484-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6411979PMC
March 2019
3 Reads

AP-1/miR-200a regulate the pro-regenerative glial cell response during axolotl spinal cord regeneration.

Commun Biol 2019 6;2:91. Epub 2019 Mar 6.

1Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, MN 55455 USA.

Salamanders have the remarkable ability to functionally regenerate after spinal cord transection. In response to injury, GFAP glial cells in the axolotl spinal cord proliferate and migrate to replace the missing neural tube and create a permissive environment for axon regeneration. Molecular pathways that regulate the pro-regenerative axolotl glial cell response are poorly understood. Read More

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http://dx.doi.org/10.1038/s42003-019-0335-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6403268PMC

Imaging and genetic investigations of neural tube defect in a calf: case report and review of the literature.

J Vet Diagn Invest 2019 Mar 13;31(2):228-234. Epub 2019 Jan 13.

Department of Veterinary Science, University of Turin, Grugliasco, Torino, Italy.

A 15-d-old female crossbreed calf was referred because of paraplegia since birth. Clinical examination revealed a skin defect covered by hair on the dorsal midline in the thoracic area of the spine. Thoracolumbar spinal cord neuroanatomic localization was determined based on neurologic examination. Read More

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http://dx.doi.org/10.1177/1040638718823037DOI Listing
March 2019
2 Reads

Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects.

Am J Clin Nutr 2019 Mar 6. Epub 2019 Mar 6.

Inserm UMRS 954, Nutrition-Genetics-Environmental Risk Exposure, Inserm and University of Lorraine, Nancy, France.

Background: The risk of neural tube defects (NTDs) is influenced by nutritional factors and genetic determinants of one-carbon metabolism. A key pathway of this metabolism is the vitamin B-12- and folate-dependent remethylation of homocysteine, which depends on methionine synthase (MS, encoded by MTR), methionine synthase reductase, and methylenetetrahydrofolate reductase. Methionine, the product of this pathway, is the direct precursor of S-adenosylmethionine (SAM), the universal methyl donor needed for epigenetic mechanisms. Read More

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http://dx.doi.org/10.1093/ajcn/nqy340DOI Listing
March 2019
4 Reads

Glycine Regulates Neural Stem Cell Proliferation During Development Lnx1-Dependent Notch Signaling.

Front Mol Neurosci 2019 18;12:44. Epub 2019 Feb 18.

Research Center of the University of Montreal Hospital Center (CRCHUM), University of Montreal, Montreal, QC, Canada.

During development of the zebrafish embryo, glycine signaling promotes the differentiation of neural stem cells (NSCs). We found that glycine signaling suppresses the expression of Ligand of Numb X1 (, Ligand of numb protein-x1), a gene of unknown function during NSC differentiation that is selectively expressed in the embryonic central nervous system (CNS). As a consequence, Numb levels were stabilized and Notch activity (measured as expression) was reduced, promoting NSC differentiation. Read More

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http://dx.doi.org/10.3389/fnmol.2019.00044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6387910PMC
February 2019
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Subacute oral administration of folic acid elicits anti-inflammatory response in a mouse model of allergic dermatitis.

J Nutr Biochem 2019 Jan 26;67:14-19. Epub 2019 Jan 26.

Pathology, Toxicology Division, The Institute of Environmental Toxicology, 4321, Uchimoriya-machi, Joso-shi, Ibaraki, Japan. Electronic address:

Folic acid (FA) deficiency is associated with several health problems, including megaloblastic anemia and fetal neural tube defects. Therefore, supplementation with FA is strongly recommended by governments worldwide. Recent published reports indicate that FA functions in immune system maintenance. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09552863183055
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http://dx.doi.org/10.1016/j.jnutbio.2019.01.009DOI Listing
January 2019
6 Reads

The rare mutation in the endosome-associated recycling protein gene is associated with human neural tube defects.

Mol Cytogenet 2019 20;12. Epub 2019 Feb 20.

2Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200032 China.

Background: Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of internalized TfRs to the cell surface and dense-core vesicle maturation. However, the role of in embryogenesis and human physiology are poorly understood. Read More

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http://dx.doi.org/10.1186/s13039-019-0421-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381738PMC
February 2019
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Secreted metalloproteases ADAMTS9 and ADAMTS20 have a non-canonical role in ciliary vesicle growth during ciliogenesis.

Nat Commun 2019 02 27;10(1):953. Epub 2019 Feb 27.

Department of Biomedical Engineering- ND20, Cleveland Clinic Lerner Research Institute, Cleveland, OH, 44195, USA.

Although hundreds of cytosolic or transmembrane molecules form the primary cilium, few secreted molecules are known to contribute to ciliogenesis. Here, homologous secreted metalloproteases ADAMTS9 and ADAMTS20 are identified as ciliogenesis regulators that act intracellularly. Secreted and furin-processed ADAMTS9 bound heparan sulfate and was internalized by LRP1, LRP2 and clathrin-mediated endocytosis to be gathered in Rab11 vesicles with a unique periciliary localization defined by super-resolution microscopy. Read More

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http://www.nature.com/articles/s41467-019-08520-7
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http://dx.doi.org/10.1038/s41467-019-08520-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6393521PMC
February 2019
5 Reads

Association of maternal chronic arsenic exposure with the risk of neural tube defects in Northern China.

Environ Int 2019 May 23;126:222-227. Epub 2019 Feb 23.

Institute of Reproductive and Child Health, Department of Epidemiology and Biostatistics, School of Public Health, Peking University/Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Beijing 100191, PR China.

Numerous animal studies have shown that high arsenic exposure can induce neural tube defect (NTD) formation. However, epidemiological evidence related to this finding is scarce. The key objective of our study is to evaluate whether maternal arsenic exposure is associated with NTD risk in Northern China. Read More

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http://dx.doi.org/10.1016/j.envint.2019.02.016DOI Listing
May 2019
2 Reads

Achieving the targets of sustainable development goals (2030 agenda) for congenital disorders in Asia: Bottlenecks and interventions.

Authors:
Meow-Keong Thong

Am J Med Genet C Semin Med Genet 2019 Feb 23. Epub 2019 Feb 23.

Genetics and Metabolism Unit, Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.

The United Nations General Assembly adopted the 2030 Agenda for Sustainable Development in November 2015 which included a set of 17 measurable "sustainable development goals" (SDGs). The SDGs included targets to end preventable deaths of newborns and children under 5 years of age by 2030, universal health care coverage, reduction of premature mortality from noncommunicable diseases (NCDs) by 33% as well as support the development and research for medicines for both communicable and NCDs. Although some successes were achieved in combating communicable diseases and improved childhood mortality rates, health systems in Asia are generally characterized by lack of accurate epidemiological information on congenital disorders, lack of human and financial resources, and inadequate focus on public health strategies to ensure targeted interventions, low level knowledge on congenital disorders amongst the community and healthcare providers and the ethical dilemma of managing rare congenital disorders in an environment of low national health expenditures. Read More

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http://dx.doi.org/10.1002/ajmg.c.31690DOI Listing
February 2019
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High rates of transmitted NNRTI resistance among persons with acute HIV infection in Malawi: implications for first-line dolutegravir scale-up.

AIDS Res Ther 2019 Feb 22;16(1). Epub 2019 Feb 22.

Division of Infectious Diseases, University of North Carolina, Chapel Hill, NC, USA.

High rates of non-nucleoside reverse transcriptase inhibitors (NNRTI) resistance was a key consideration in the WHO policies transitioning first-line regimens to include integrase inhibitors (dolutegravir [DTG]). However, recent data suggests a relationship between DTG and neural tube defects among women exposed during conception, giving providers and policymakers pause regarding the planned regimen changes. We examined HIV drug resistance among a cohort of 46 acutely infected persons in Malawi. Read More

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http://dx.doi.org/10.1186/s12981-019-0220-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6385432PMC
February 2019
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Macronutrient and Micronutrient Intake during Pregnancy: An Overview of Recent Evidence.

Nutrients 2019 Feb 20;11(2). Epub 2019 Feb 20.

Monash Centre for Health Research and Implementation (MCHRI), School of Public Health and Preventive Medicine, Monash University, Melbourne, VIC 3168, Australia.

Nutritional status during pregnancy can have a significant impact on maternal and neonatal health outcomes. Requirements for macronutrients such as energy and protein increase during pregnancy to maintain maternal homeostasis while supporting foetal growth. Energy restriction can limit gestational weight gain in women with obesity; however, there is insufficient evidence to support energy restriction during pregnancy. Read More

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http://dx.doi.org/10.3390/nu11020443DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6413112PMC
February 2019
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Influence of periconception smoking behavior on birth defect risk.

Am J Obstet Gynecol 2019 Feb 18. Epub 2019 Feb 18.

Center for Prevention of Preterm Birth, Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH. Electronic address:

Background: Smoking is one of the most important modifiable risk factors for adverse maternal and neonatal outcomes. Smoking during pregnancy has been associated with fetal growth restriction, adverse pregnancy outcomes, and chronic adult diseases. Existing research has evaluated the risk of smoking on congenital defects. Read More

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http://dx.doi.org/10.1016/j.ajog.2019.02.029DOI Listing
February 2019
2 Reads

Quantitation of 5-methyltetraydrofolic acid in plasma for determination of folate status and clinical studies by stable isotope dilution assays.

PLoS One 2019 21;14(2):e0212255. Epub 2019 Feb 21.

Chair of Analytical Food Chemistry, Technical University of Munich, Freising, Germany.

Folates play a key role in the prevention of neural tube defects in newborns. Thus, it is important to reliably determine the bioavailability of folates from various foods. Accurate analytical methods are essential for quantifying blood-folates, especially in human studies. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0212255PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6383923PMC
February 2019
1 Read
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Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect.

Clin Dysmorphol 2019 Feb 14. Epub 2019 Feb 14.

Institute of Human Genetics, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.

Rubinstein-Taybi syndrome (RSTS) is a rare dominant disorder with intellectual disability, postnatal growth deficiency, and multiple congenital anomalies. Approximately 50-70% of the patients have a mutation in the CREBBP gene (RSTS1) and 5-10% display an EP300 gene mutation (RSTS2). Craniospinal abnormalities such as microcranium, scoliosis, and lordosis are frequent findings in RSTS1, but malformations of the brain or spinal cord are seen only occasionally. Read More

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http://dx.doi.org/10.1097/MCD.0000000000000262DOI Listing
February 2019
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Developmental Toxicity of Mycotoxin B₁ in Animal Embryogenesis: An Overview.

Toxins (Basel) 2019 Feb 13;11(2). Epub 2019 Feb 13.

Department of Animal Science, National Chung Hsing University, Taichung 40227, Taiwan.

A teratogenic agent or teratogen can disturb the development of an embryo or a fetus. B₁ (FB₁), produced by and , is among the most commonly seen mycotoxins and contaminants from stale maize and other farm products. It may cause physical or functional defects in embryos or fetuses, if the pregnant animal is exposed to mycotoxin FB₁. Read More

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http://dx.doi.org/10.3390/toxins11020114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6410136PMC
February 2019
5 Reads

Nutrition and its role in human evolution.

J Intern Med 2019 Feb 17. Epub 2019 Feb 17.

Vice Chancellor and Dean for Agriculture and Life Sciences, Texas A&M AgriLife, College Station, TX, USA.

Our understanding of human evolution has improved rapidly over recent decades, facilitated by large-scale cataloguing of genomic variability amongst both modern and archaic humans. It seems clear that the evolution of the ancestors of chimpanzees and hominins separated 7-9 million years ago with some migration out of Africa by the earlier hominins; Homo sapiens slowly emerged as climate change resulted in drier, less forested African conditions. The African populations expanded and evolved in many different conditions with slow mutation and selection rates in the human genome, but with much more rapid mutation occurring in mitochondrial DNA. Read More

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http://dx.doi.org/10.1111/joim.12878DOI Listing
February 2019
1 Read