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Neural tube defect

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https://www.readbyqxmd.com/read/28650726/maternal-health-related-behaviours-during-pregnancy-a-critical-public-health-issue
#1
Aleksandra Górniaczyk, Barbara Czech-Szczapa, Maciej Sobkowski, Karolina Chmaj-Wierzchowska
AIM: The aim of the study was to investigate the health-related behaviours of pregnant women. Maternal health-related habits, use of psychoactive medicines, diet, prevention of neural tube defects, oral cavity hygiene, chronic diseases and physical activity were analysed in a group of pregnant women attending antenatal classes. METHODS: Hundred pregnant women recruited from various antenatal classes in Poznań, Poland, were investigated using a questionnaire based on the Pregnancy Risk Assessment Monitoring System...
June 26, 2017: European Journal of Contraception & Reproductive Health Care
https://www.readbyqxmd.com/read/28646847/prevalence-of-birth-defects-in-iran-a-systematic-review-and-meta-analysis
#2
Yadollah Zahed Pasha, Amin Vahedi, Mohammad Zamani, Reza Alizadeh-Navaei, Ermia Zahed Pasha
INTRODUCTION: Birth defects are a series of disorders that occur during embryonic life. In Iran, no national situation analysis is available to show the rate of congenital disorders. We aimed to estimate the prevalence of structural birth defects in Iran. METHODS: We searched for English studies on PubMed, Scopus and Google Scholar from January 1990 to July 2016. The search for Persian articles was performed in Scientific Information Database and Magiran. Two reviewers assessed the identified articles independently...
June 1, 2017: Archives of Iranian Medicine
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#3
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28631291/folate-deficiency-disturbs-hsa-let-7-g-level-through-methylation-regulation-in-neural-tube-defects
#4
Li Wang, Shaofang Shangguan, Yu Xin, Shaoyan Chang, Zhen Wang, Xiaolin Lu, Lihua Wu, Bo Niu, Ting Zhang
Folic acid deficiency during pregnancy is believed to be a high-risk factor for neural tube defects (NTDs). Disturbed epigenetic modifications, including miRNA regulation, have been linked to the pathogenesis of NTDs in those with folate deficiency. However, the mechanism by which folic acid-regulated miRNA influences this pathogenesis remains unclear. It is believed that DNA methylation is associated with dysregulated miRNA expression. To clarify this issue, here we measured the methylation changes of 22 miRNAs in 57 human NTD cases to explore whether such changes are involved in miRNA regulation in NTD cases through folate metabolism...
June 19, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28628360/genetic-risk-factors-for-folate-responsive-neural-tube-defects
#5
Anne M Molloy, Faith Pangilinan, Lawrence C Brody
Neural tube defects (NTDs) are the most severe congenital malformations of the central nervous system. The etiology is complex, with both genetic and environmental factors having important contributions. Researchers have known for the past two decades that maternal periconceptional use of the B vitamin folic acid can prevent many NTDs. Though this finding is arguably one of the most important recent discoveries in birth defect research, the mechanism by which folic acid exerts this benefit remains unknown. Research to date has focused on the hypothesis that an underlying genetic susceptibility interacts with folate-sensitive metabolic processes at the time of neural tube closure...
June 19, 2017: Annual Review of Nutrition
https://www.readbyqxmd.com/read/28623428/quantitative-measurement-of-pard3-copy-number-variations-in-human-neural-tube-defects
#6
Yonghui Gao, Jianhua Wang, Shaofang Shangguan, Yihua Bao, Xiaoli Lu, Jizhen Zou, Yaohua Dai, Junling Liu, Ting Zhang
Although more than 200 genes are known to be related to neural tube defects (NTDs), the exact molecular basis is still unclear. Evaluating the contribution of copy number variation (CNV) might be a priority because CNV involves changes in the copy number of large segments of DNA, leading to phenotypic traits and disease susceptibility. Recent studies have documented that the polarity protein partitioning defective 3 homolog (Pard3) plays an essential role in the process of neural tube closure. The aim of this study was to assess the role of PARD3 CNVs in the etiology of human NTDs...
June 16, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28618200/ambient-and-dosed-exposure-to-quaternary-ammonium-disinfectants-causes-neural-tube-defects-in-rodents
#7
Terry C Hrubec, Vanessa E Melin, Caroline S Shea, Elizabeth E Ferguson, Craig Garofola, Claire M Repine, Tyler W Chapman, Hiral R Patel, Reza M Razvi, Jesse E Sugrue, Haritha Potineni, Geraldine Magnin-Bissel, Patricia A Hunt
BACKGROUND: Quaternary ammonium compounds are a large class of chemicals used for their antimicrobial and antistatic properties. Two common quaternary ammonium compounds, alkyldimethylbenzyl ammonium chloride (ADBAC) and didecyldimethyl ammonium chloride (DDAC), are combined in common cleaners and disinfectants. Introduction of a cleaner containing ADBAC+DDAC in the vivarium caused neural tube defects (NTDs) in mice and rats. METHODS: To further evaluate this finding, male and female mice were dosed in the feed at 60 or 120 mg/kg/day, or by oral gavage at 7...
June 15, 2017: Birth defects research
https://www.readbyqxmd.com/read/28617970/trends-in-the-prevalence-of-neural-tube-defects-a-tale-of-two-policies
#8
Babak Khoshnood, Nathalie Lelong
No abstract text is available yet for this article.
June 15, 2017: Paediatric and Perinatal Epidemiology
https://www.readbyqxmd.com/read/28617257/do-italian-pregnant-women-use-periconceptional-folate-supplementation
#9
Alice Maraschini, Paola D'Aloja, Ilaria Lega, Marta Buoncristiano, Ursula Kirchmayer, Martina Ventura, Serena Donati
INTRODUCTION: Deficiency of folic acid (FA) has been identified as a risk factor for neural tube defects (NTDs) as well as other congenital anomalies. Thus, periconceptional folate supplementation is recommended for all women planning to get pregnant. METHODS: We conducted a KAP (knowledge, attitude, practice) survey to investigate the use of FA and its appropriateness. The survey included a sample of 562 women who delivered in the Lazio region between 2013 and 2014...
April 2017: Annali Dell'Istituto Superiore di Sanità
https://www.readbyqxmd.com/read/28615372/preconception-micronutrient-supplementation-with-iron-and-folic-acid-compared-with-folic-acid-alone-affects-linear-growth-and-fine-motor-development-at-2-years-of-age-a-randomized-controlled-trial-in-vietnam
#10
Phuong H Nguyen, Ines Gonzalez-Casanova, Melissa F Young, Truong Viet Truong, Hue Hoang, Huong Nguyen, Son Nguyen, Ann M DiGirolamo, Reynaldo Martorell, Usha Ramakrishnan
Background: Maternal health and nutrition play a crucial role in early child growth and development. However, little is known about the benefits of preconception micronutrient interventions beyond the role of folic acid (FA) and neural tube defects.Objective: We evaluated the impact of weekly preconception multiple micronutrient (MM) or iron and folic acid (IFA) supplementation on child growth and development through the age of 2 y compared with FA alone.Methods: We followed 1599 offspring born to women who participated in a randomized controlled trial of preconception supplementation in Vietnam...
June 14, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28603928/the-nutritional-role-of-folate
#11
REVIEW
Shuhei Ebara
Folate functions as a coenzyme to transfer one-carbon units that are necessary for deoxythymidylate synthesis, purine synthesis, and various methylation reactions. Ingested folate becomes a functional molecule through intestinal absorption, circulation, transport to cells, and various modifications to its structure. Associations between nutritional folate status and chronic diseases such as cardiovascular disease, cancer, and cognitive dysfunction have been reported. It has also been reported that maternal folate nutritional status is related to the risk of neural tube defects (NTDs) in the offspring...
June 11, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28599099/clinical-and-molecular-genetic-characterization-of-two-siblings-with-trisomy-2p24-3-pter-and-monosomy-5p14-3-pter
#12
Daisuke Fukushi, Kenji Kurosawa, Yasuyo Suzuki, Kaoru Suzuki, Kenichiro Yamada, Seiji Watanabe, Kenji Yokochi, Nobuaki Wakamatsu
Partial trisomy 2p syndrome is occasionally associated with neural tube defects (NTDs), such as anencephaly, encephalocele, and spina bifida, in addition to common features of intellectual disability, developmental delay, and characteristic facial appearance. The 2p24 region has been reported to be associated with NTDs. Here, we report the cases of 2 siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter caused by the paternal translocation t(2;5)(p24.3;p14.3). Of the two siblings, the elder sister had spina bifida...
June 9, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28596566/high-dose-maternal-folic-acid-supplementation-before-conception-impairs-reversal-learning-in-offspring-mice
#13
Kristin S Henzel, Devon P Ryan, Susanne Schröder, Marco Weiergräber, Dan Ehninger
Maternal folic acid (FA) supplementation prior to and during gestation is recommended for the prevention of neural tube closure defects in the developing embryo. Prior studies, however, suggested that excessive FA supplementation during gestation can be associated with toxic effects on the developing organism. Here, we address whether maternal dietary folic acid supplementation at 40 mg/kg chow (FD), restricted to a period prior to conception, affects neurobehavioural development in the offspring generation...
June 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28592519/mtor-is-a-novel-molecular-mechanism-linking-folate-availability-and-cell-function
#14
REVIEW
Elena Silva, Fredrick J Rosario, Theresa L Powell, Thomas Jansson
Folate deficiency has been linked to a wide range of disorders, including cancer, neural tube defects, and fetal growth restriction. Folate regulates cellular function mediated by its involvement in the synthesis of nucleotides, which are needed for DNA synthesis, and its function as a methyl donor, which is critical for DNA methylation. Here we review current data showing that folate sensing by mechanistic target of rapamycin (mTOR) constitutes a novel and distinct pathway by which folate modulates cell functions such as nutrient transport, protein synthesis, and mitochondrial respiration...
June 7, 2017: Journal of Nutrition
https://www.readbyqxmd.com/read/28588742/folate-deficiency-as-predisposing-factor-for-childhood-leukaemia-a-review-of-the-literature
#15
REVIEW
Catia Daniela Cantarella, Denise Ragusa, Marco Giammanco, Sabrina Tosi
BACKGROUND: Folic acid and its derivates, known as folates, are chemoprotective micronutrients of great interest because of their essential role in the maintenance of health and genomic integrity. The supplementation of folic acid during pregnancy has long been known to reduce the risk of neural tube defects (NTDs) in the foetus. Folate metabolism can be altered by many factors, including adequate intake through diet. Folate deficiency can compromise the synthesis, repair and methylation of DNA, with deleterious consequences on genomic stability and gene expression...
2017: Genes & Nutrition
https://www.readbyqxmd.com/read/28587698/folate-status-in-women-of-childbearing-age-with-obesity-a-review
#16
Silvia Maffoni, Rachele De Giuseppe, Fatima Cody Stanford, Hellas Cena
Several studies have described a positive association between elevated BMI and birth defects risk. Data on plasma concentration of folate in pregnant women with obesity have shown values far below those recommended, regardless of diet, while folate levels should increase before pregnancy to reduce neural tube defects. We report a descriptive review of the most recent studies (from 2005 to 2015) to evaluate folate status through a population of women of childbearing age affected by obesity. The literature contains few studies, which present conflicting results regarding folate status in non-pregnant women of childbearing age affected by obesity, and it appears that there is a modification in folate metabolism, with a reduction in plasma folate levels and an increase in erythrocyte folate uptake...
June 7, 2017: Nutrition Research Reviews
https://www.readbyqxmd.com/read/28584581/preconceptional-use-of-folic-acid-and-knowledge-about-folic-acid-among-low-income-pregnant-women-in-korea
#17
Jihyun Kim, Miyong Yon, Cho-Il Kim, Yoonna Lee, Gui-Im Moon, Jinhwan Hong, Taisun Hyun
BACKGROUND/OBJECTIVES: Folic acid supplementation before pregnancy is known to significantly reduce the risk of having a baby with neural tube defects (NTDs). Therefore, it is important for women to be aware of the effects of folic acid supplementation before pregnancy. The purpose of this study was to investigate the awareness and preconceptional use of folic acid and to assess the current knowledge about folic acid among low-income pregnant women in Korea. SUBJECTS/METHODS: A questionnaire survey was conducted in 2012...
June 2017: Nutrition Research and Practice
https://www.readbyqxmd.com/read/28583412/the-embryonic-development-of-hindbrain-respiratory-networks-is-unaffected-by-mutation-of-the-planar-polarity-protein-scribble
#18
Marc Chevalier, Laura Cardoit, Maïté Moreau, Nathalie Sans, Mireille Montcouquiol, John Simmers, Muriel Thoby-Brisson
The central command for breathing arises mainly from two interconnected rhythmogenic hindbrain networks, the parafacial respiratory group (pFRG or epF at embryonic stages) and the preBötzinger complex (preBötC), which are comprised of a limited number of neurons located in confined regions of the ventral medulla. In rodents, both networks become active toward the end of gestation but little is known about the signaling pathways involved in their anatomical and functional establishment during embryogenesis...
June 3, 2017: Neuroscience
https://www.readbyqxmd.com/read/28579621/fetal-pathology-of-neural-tube-defects-an-overview-of-68-cases
#19
Katharina Schoner, Roland Axt-Fliedner, Rainer Bald, Barbara Fritz, Juergen Kohlhase, Thomas Kohl, Helga Rehder
INTRODUCTION: The prevalence of neural tube defects worldwide is 1 - 2 per 1000 neonates. Neural tube defects result from a disturbance of neurulation in the 3rd or 4th week of development and thus represent the earliest manifestation of organ malformation. Neural tube defects (NTD) are classified into cranial dysraphism leading to anencephaly or meningoencephalocele and spinal dysraphism with or without meningomyelocele. In isolated form they have multifactorial causes, and the empirical risk of recurrence in Central Europe is 2%...
May 2017: Geburtshilfe und Frauenheilkunde
https://www.readbyqxmd.com/read/28576414/is-urodynamic-evaluation-a-must-in-all-operated-cases-of-open-neural-tube-defects
#20
Monika Bawa, Vedarth Dash, Akshay Kalavant, J K Mahajan, K L N Rao
BACKGROUND: Spina bifida is a common cause of pediatric neurogenic bladder. It causes renal failure in almost 100% of patients if the associated detrusor sphincter dyssynergia (DSD) is inadequately managed. Detrusor instability and high detrusor pressures (Figure) have been implicated as the major factors predictive of renal damage in these patients. Urodynamic studies provide early identification of "at risk" kidneys so that appropriate intervention can be made. However, the role in post-operative patients of spina bifida who have no clinical manifestations remains unclear...
May 20, 2017: Journal of Pediatric Urology
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