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Neural tube defect

Breanna L Alman, Evan Coffman, Anna Maria Siega-Riz, Thomas J Luben
BACKGROUND: Water and water-based beverages constitute a major part of daily fluid intake for pregnant women, yet few epidemiologic studies have investigated the role of water consumption on birth outcomes. METHODS: We used data from the National Birth Defects Prevention Study to conduct a case-control study investigating associations between maternal water consumption during pregnancy and birth defects (BD). We used interview data on water consumption during the first trimester of pregnancy in 14,454 cases (major BDs n ≥ 50) and 5,063 controls...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Renee Y M Leduc, Parmveer Singh, Heather E McDermid
Neurulation, the early embryonic process of forming the presumptive brain and spinal cord, is highly complex and involves hundreds of genes in multiple genetic pathways. Mice have long served as a genetic model for studying human neurulation, and the resulting neural tube defects (NTDs) that arise when neurulation is disrupted. Because mice appear to show mostly single gene inheritance for NTDs and humans show multifactorial inheritance, mice sometimes have been characterized as a simpler model for the identification and study of NTD genes...
October 21, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Helen J Sims-Williams, Hugh P Sims-Williams, Edith Mbabazi Kabachelor, James Fotheringham, Benjamin C Warf
OBJECTIVE Myelomeningocele (MM) is a neural tube defect complicated by neurological deficits below the level of the spinal lesion and, in many cases, hydrocephalus. Long-term survival of infants treated for MM in a low- and middle-income country has never been reported. This retrospective cohort study reports 10-year outcomes and factors affecting survival for infants undergoing MM repair at CURE Children's Hospital of Uganda. METHODS Patients were traced by telephone or home visit. Survival was estimated using the Kaplan-Meier method...
October 21, 2016: Journal of Neurosurgery. Pediatrics
Annah Lane, Ling Lee, Donna Traves, Andreas Lee
INTRODUCTION: The antenatal diagnosis of open spina bifida (OSB), a neural tube defect, is predominantly made at the second trimester morphology scan by ultrasound detection of structural abnormalities resulting from the associated Chiari II malformation. Evidence has emerged suggesting that these structural abnormalities can be detected earlier, by examination of the posterior fossa as part of the first trimester nuchal translucency scan. In particular, absence of the intra-cranial translucency (IT) of the fourth ventricle has shown promise as a diagnostic marker of OSB, although the sensitivity and specificity of this finding varies widely in the literature...
October 21, 2016: Journal of Medical Imaging and Radiation Oncology
Anand Pandey, Vipin Gupta, Shailendra P Singh, Vijendra Kumar, Rajesh Verma
A trophic ulcer is a pressure ulcer caused by external trauma to a part of the body that is compromised due to disease, vascular insufficiency, or loss of afferent nerve fibers. Spinal dysraphism (ie, neural tube defects [NTD]) such as meningomyelocele is a risk factor for developing these ulcers in adults and pediatric patients. Information regarding the occurrence of trophic ulcers in pediatric patients with NTD is lacking. A review of the English-language literature on skin/neuropathic ulcers in patients with NTDs, irrespective of study design, published between 1975 and 2014, was undertaken using the PubMed database...
December 2015: Ostomy/wound Management
Marissa B Guzzo, Hoa T Nguyen, Thanh H Pham, Monika Wyszczelska-Rokiel, Hieronim Jakubowski, Kerstin A Wolff, Sam Ogwang, Joseph L Timpona, Soumya Gogula, Michael R Jacobs, Markus Ruetz, Bernhard Kräutler, Donald W Jacobsen, Guo-Fang Zhang, Liem Nguyen
The methylfolate trap, a metabolic blockage associated with anemia, neural tube defects, Alzheimer's dementia, cardiovascular diseases, and cancer, was discovered in the 1960s, linking the metabolism of folate, vitamin B12, methionine and homocysteine. However, the existence or physiological significance of this phenomenon has been unknown in bacteria, which synthesize folate de novo. Here we identify the methylfolate trap as a novel determinant of the bacterial intrinsic death by sulfonamides, antibiotics that block de novo folate synthesis...
October 2016: PLoS Pathogens
Anne Rochtus, Raf Winand, Griet Laenen, Elise Vangeel, Benedetta Izzi, Christine Wittevrongel, Yves Moreau, Carla Verpoorten, Katrien Jansen, Chris Van Geet, Kathleen Freson
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations that arise from failure of neurulation during early embryonic development. The molecular basis underlying most human NTDs still remains largely unknown. Based on the hypothesis that folic acid prevents NTDs by stimulating methylation reactions, DNA methylation changes could play a role in NTDs. We performed a methylome analysis for patients with myelomeningocele (MMC). Using a candidate CpG analysis for HOX genes, a significant association between HOXB7 hypomethylation and MMC was found...
2016: Clinical Epigenetics
Xiaojing Qiao, Yahui Liu, Peiqiang Li, Zhongzhong Chen, Huili Li, Xueyan Yang, Richard H Finnell, Zhangmin Yang, Ting Zhang, Bin Qiao, Yufang Zheng, Hongyan Wang
The planar cell polarity (PCP) pathway is critical for proper embryonic development of the neural tube and heart. Mutations in these genes have previously been implicated in the pathogenesis of neural tube defects (NTDs), but not in congenital heart defects (CHDs) in humans. We systematically identified the mutation patterns of CELSR1-3 , one family of the core PCP genes, in human cohorts composed of 352 NTD cases, 412 CHD cases, and matched controls. A total of 72 disease-specific rare novel coding mutations were identified, of which 37 were identified in CHD cases, and 36 were identified in NTD patients...
October 18, 2016: Clinical Science (1979-)
Melissa Borelli, Rebecca J Baer, Christina D Chambers, Tyler C Smith, Laura L Jelliffe-Pawlowski
We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements...
October 14, 2016: American Journal of Medical Genetics. Part A
Issei S Shimada, Saikat Mukhopadhyay
Disruption of the normal mechanisms that mediate neural tube closure can result in neural tube defects (NTDs) with devastating consequences in affected patients. With the advent of next-generation sequencing, we are increasingly detecting mutations in multiple genes in NTD cases. However, our ability to determine which of these genes contribute to the malformation is limited by our understanding of the pathways controlling neural tube closure. G-protein-coupled receptors (GPCRs) comprise the largest family of transmembrane receptors in humans and have been historically favored as drug targets...
October 12, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
K R Patel, A Sobczyńska-Malefora
Folate is a vital component of a healthy diet, being essential for numerous bodily functions. Deficiency of folate is common, with studies suggesting prevalence of deficiencyas high as 85.5% as was shown in women between the ages of 16 and 49, living in the UK. Causes of folate deficiency range from diet and lifestyle, to pathological and pharmacological processes. Because of the well-known role of folate in prevention of neural tube defects, numerous countries have implemented strategies to increase folate intake, with programs such as mandatory grain fortification...
October 12, 2016: European Journal of Clinical Nutrition
V Lebese, C Aldous, H L Malherbe
BACKGROUND: The National Department of Health in South Africa (SA) routinely collects congenital disorder (CD) data for its national CD surveillance system. The current system has been implemented since 2006, but no reports on the data collected, methodology, achievements or challenges have been published to date. OBJECTIVES: To ascertain the effectiveness of the current national CD surveillance system and its implementation. METHOD: A descriptive, retrospective study using an audit of the current database was undertaken to evaluate the number of notifications received, types of CDs reported and the quality of reporting across SA for data received from 2006 to 2014...
September 5, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
V Sans-Coma, C Rodríguez, M A López-Unzu, M Lorenzale, B Fernández, L Vida, A C Durán
As far as is known, this paper gives the first description of a two-headed shark embryo belonging to an oviparous species, Galeus atlanticus (Carcharhiniformes: Scyliorhinidae). The specimen was detected among 797 embryos intended for cardiovascular studies, which represents a defect incidence of 0·13%. Each head had a mouth, two eyes, a brain, a notochord and five gill openings on each side. The two heads fused behind the gills. On the single body, there were four anticipated dorsal fins, two anterior, right and left and two posterior, right and left...
October 9, 2016: Journal of Fish Biology
Riaz Abdulla, Rouchelle Charmaine Tellis, Roshan Athikari, Jagadish Kudkuli
CONTEXT: Nonsyndromic cleft lip with or without palate (NSCL ± P) is a genetic predisposition involving defects in shape and makeup of the lip and palate. Elevation of homocysteine (Hcy) levels is seen in medical complications such as developmental anomalies causing neural tube defects, congenital vascular diseases, neurodegenerative and psychiatric conditions. Evaluation of serum Hcy levels forms an important feature to look further into molecular aspects. AIMS: The aim of this study was to evaluate the Hcy levels in NSCL ± P cases by comparing with control cases having no orofacial deformities...
September 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
Swapnalee Sarmah, Pooja Muralidharan, James A Marrs
Congenital anomalies, congenital defects, or birth defects are significant causes of death in infants. The most common congenital defects are congenital heart defects (CHDs) and neural tube defects (NTDs). Defects induced by genetic mutations, environmental exposure to toxins, or a combination of these effects can result in congenital malformations, leading to infant death or long-term disabilities. These defects produce significant mortality and morbidity in the affected individuals, and families are affected emotional and financially...
October 7, 2016: Birth Defects Research. Part C, Embryo Today: Reviews
Shuyuan Chen, Qin Zhang, Baoling Bai, Shengrong Ouyang, Yihua Bao, Huili Li, Ting Zhang
Dishevelled (DVL/Dvl) genes play roles in canonical and noncanonical Wnt signaling, both of which are essential in neural tube closing and are involved in balancing neural progenitor growth and differentiation, or neuroepithelial cell polarity, respectively. In mouse Dvl haploinsufficiency leads to neural tube defects (NTDs), which represent the second most common birth defects. However, DVL genes' genetic contributions in human NTDs are modest. We sought to explore the molecular impact on such genes in human NTDs in a Han Chinese cohort...
October 6, 2016: Molecular Neurobiology
Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro, Alemayehu Worku
BACKGROUND: Birth defects are defined as structural and functional defects that develop during the organogenesis period and present at birth or detected later in life. They are one of the leading causes of infant and child mortality, morbidity, and long term disability. The magnitude of birth defects varies from country to country and from race/ethnicity to race/ethnicity, and about 40-60% of their causes are unknown. The known causes of birth defects are genetic and environmental factors which may be prevented...
2016: PloS One
Shona Cawley, Laura Mullaney, Rachel Kennedy, Maria Farren, Daniel McCartney, Michael J Turner
OBJECTIVE: To provide accurate estimates of the commencement time, duration and dosage of folic acid (FA) supplementation taken by Irish women in the periconceptional period. The study also aimed to establish the factors associated with optimal FA supplementation practices. DESIGN: Cross-sectional observational study. Women's clinical and sociodemographic details were computerised. Maternal weight and height were measured before calculating BMI. Detailed FA supplementation questionnaires were completed under the supervision of a trained researcher...
October 5, 2016: Public Health Nutrition
Madhavilatha Routhu, Sreedevi Thakkallapelli, Prashanthi Mohan, Nadeem Ahmed
Body stalk anomaly (BSA) and amniotic band syndrome (ABS) are rare similar fetal sporadic polymalformative syndromes of unknown etiology, though there are certain differences between them. BSA is a combination of developmental abnormalities involving neural tube, body wall, and the limbs with persistent extra embryonic coelomic cavity. ABS is characterized by the presence of thin membrane-like strands attached to fetal body parts and causing constrictions and amputations. This is a cohort study involving 32,100 patients who were referred for routine antenatal ultrasound scan...
2016: International Journal of Reproductive Medicine
Wladimir Wertelecki, Christina D Chambers, Lyubov Yevtushok, Natalya Zymak-Zakutnya, Zoriana Sosyniuk, Serhiy Lapchenko, Bogdana Ievtushok, Diana Akhmedzhanova
In the 30 years since the Chornobyl nuclear power plant disaster, there is evidence of persistent levels of incorporated ionizing radiation in adults, children and pregnant women in the surrounding area. Measured levels of Cesium-137 vary by region, and may be influenced by dietary and water sources as well as proximity to nuclear power plants. Since 2000, comprehensive, population-based birth defects monitoring has been performed in selected regions of Ukraine to evaluate trends and to generate hypotheses regarding potential causes of unexplained variations in defect rates...
September 30, 2016: European Journal of Medical Genetics
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