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Neural tube defect

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https://www.readbyqxmd.com/read/27908214/pregnancy-and-tumor-outcomes-in-infertile-women-with-macroprolactinoma-on-cabergoline-therapy
#1
Ashu Rastogi, Sanjay K Bhadada, Anil Bhansali
Hyperprolactinemia and prolactinomas cause infertility in significant number of women. But, pregnancy may lead to post-partum remission of hyperprolactinemia. The data on pregnancy and tumor outcome in women with macroprolactinoma conceiving on Cabergoline (CAB) therapy is increasing but still less than with Bromocriptine. We studied the incidence of fetal malformations, hyperprolactinemia and tumor course after gestation in infertile women harboring macroprolactinoma, who conceived on CAB therapy during the year 2005-2015...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27905191/race-and-ethnicity-and-preconception-folic-acid-supplement-use-among-pregnant-women-in-georgia-prams-2009-to-2011
#2
Ayesha Mukhtar, Michael R Kramer, Godfrey P Oakley, Vijaya Kancherla
BACKGROUND: The United States Public Health Service recommends that all women of reproductive age consume 400 μg of folic acid daily to prevent major neural tube defects. Hispanics have the highest prevalence of neural tube defects compared with other race/ethnic groups. We studied prevalence of preconception folic acid supplement use, and its association with race/ethnicity among pregnant women in Georgia. METHODS: Using state-wide population-based data from 2009 to 2011 Georgia Pregnancy Risk Assessment Monitoring System, we examined the prevalence of preconception folic acid supplement use among pregnant women aged 18 to 45 years...
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891782/using-state-and-provincial-surveillance-programs-to-reduce-risk-of-recurrence-of-neural-tube-defects-in-the-united-states-and-canada-a-missed-opportunity
#3
Timothy J Flood, Chelsea M Rienks, Alina L Flores, Cara T Mai, Barbara K Frohnert, Rachel E Rutkowski, Jane A Evans, Russell S Kirby
BACKGROUND: Once a woman has had a fetus or infant affected with a neural tube defect (NTD), the risk of recurrence is approximately 3%. This risk can be significantly reduced by folic acid supplement consumption during the periconceptional period; however, this requires women at risk to be adequately informed about the appropriate dosage and timing of supplement intake before planning another pregnancy. As birth defects surveillance programs are tasked with identifying and documenting NTD-affected pregnancies and births, they are in a unique position to support recurrence prevention activities...
November 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27888505/geographical-and-ethnic-distribution-of-mthfr-gene-polymorphisms-and-their-associations-with-diseases-among-chinese-population
#4
REVIEW
Boyi Yang, Shujun Fan, Xueyuan Zhi, Ruilan Xia, Yanxun Wang, Quanmei Zheng, Guifan Sun
Numerous studies have investigated the distribution of methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms and their associations with diseases in China. In this study we conducted a systematic review and meta-analysis of these studies (715 eligible studies in total).Results revealed that the frequencies of the MTHFR C677T and A1298C polymorphisms varied markedly in different areas and ethnicities, and even showed geographical gradients. The MTHFR C677T polymorphism was significantly associated with 42 clinical disorders (P<0...
November 26, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27886045/nutrition-one-carbon-metabolism-and-neural-tube-defects-a-review
#5
REVIEW
Kelei Li, Mark L Wahlqvist, Duo Li
Neural tube defects (NTDs) are a group of severe congenital malformations, induced by the combined effects of genes and the environment. The most valuable finding so far has been the protective effect of folic acid supplementation against NTDs. However, many women do not take folic acid supplements until they are pregnant, which is too late to prevent NTDs effectively. Long-term intake of folic acid-fortified food is a good choice to solve this problem, and mandatory folic acid fortification should be further promoted, especially in Europe, Asia and Africa...
November 23, 2016: Nutrients
https://www.readbyqxmd.com/read/27883265/genomic-approaches-to-the-assessment-of-human-spina-bifida-risk
#6
REVIEW
M Elizabeth Ross, Christopher E Mason, Richard H Finnell
Structural birth defects are a leading cause of mortality and morbidity in children world-wide, affecting as much as 6% of all live births. Among these conditions, neural tube defects (NTDs), including spina bifida and anencephaly, arise from a combination of complex gene and environment interactions that are as yet poorly understood within human populations. Rapid advances in massively parallel DNA sequencing and bioinformatics allow for analyses of the entire genome beyond the 2% of the genomic sequence covering protein coding regions...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27883261/prevention-of-neural-tube-defects-in-lrp-mutant-mouse-embryos-by-folic-acid-supplementation
#7
Julia A Sabatino, Bethany A Stokes, Irene E Zohn
BACKGROUND: Neural tube defects (NTDs) are among the most common structural birth defects in humans and are caused by the complex interaction of genetic and environmental factors. Periconceptional supplementation with folic acid can prevent NTDs in both mouse models and human populations. A better understanding of how genes and environmental factors interact is critical toward development of rational strategies to prevent NTDs. Low density lipoprotein-related protein 2 (Lrp2) is involved in endocytosis of the folic acid receptor among numerous other nutrients and ligands...
November 24, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27881468/elevated-ambient-temperatures-and-risk-of-neural-tube-defects
#8
Nathalie Auger, William D Fraser, Laura Arbour, Marianne Bilodeau-Bertrand, Tom Kosatsky
OBJECTIVES: The association between ambient heat and neural tube defects has received limited attention, despite imminent climate warming this century. We sought to determine the relationship between elevated outdoor temperatures during neurogenesis and risk of neural tube defects. METHODS: We carried out a retrospective cohort study of 887 710 fetuses between 3 and 4 weeks postconception from the months of April through September for 1988-2012 in Quebec, Canada...
November 22, 2016: Occupational and Environmental Medicine
https://www.readbyqxmd.com/read/27881182/research-prevalence-of-neural-tube-defects-khartoum-sudan-august-2014-july-2015
#9
Ilham M Omer, Osman M Abdullah, Inaam N Mohammed, Lina A Abbasher
BACKGROUND: Neural tube defects (NTDs) are birth defects that results from failure of the neural tube to develop properly during early pregnancy. METHODS: We studied the prevalence of neural tube defects in newborns admitted to the NICU in Soba University and Omdurman Maternity hospitals, during the period 1st August 2014 to 31st July 2015. A cross-sectional hospital based study, involved all newborns with any type of neural tube defect admitted to the NICU in the study area during the study period...
November 24, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27876556/homocysteine-and-disease-causal-associations-or-epiphenomenons
#10
REVIEW
Luciana Hannibal, Henk J Blom
Nutritional and genetic deficiencies of folate and vitamin B12 lead to elevation of cellular homocysteine (Hcy), which translates in increased plasma Hcy. The sources and role of elevated plasma Hcy in pathology continues to be a subject of intense scientific debate. Whether a cause, mediator or marker, little is known about the molecular mechanisms and interactions of Hcy with cellular processes that lead to disease. The use of folic acid reduces the incidence of neural tube defects, but the effect of Hcy-lowering interventions with folic acid in cardiovascular disease and cognitive impairment remains controversial...
November 19, 2016: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/27875541/new-perspective-on-impact-of-folic-acid-supplementation-during-pregnancy-on-neurodevelopment-autism-in-the-offspring-children-a-systematic-review
#11
Yunfei Gao, Chao Sheng, Ri-Hua Xie, Wen Sun, Elizabeth Asztalos, Diane Moddemann, Lonnie Zwaigenbaum, Mark Walker, Shi Wu Wen
It has been conclusively established that folic acid supplementation prior to and during early pregnancy (up to 12 weeks of gestation) can prevent neural tube defects (NTDs). We hypothesized that folate effects may extend from neuro-structural defects to alterations in neuro-behavioural and emotional skills including autism spectrum disorders (ASDs) and other developmental disorders. The objective of this review was to comprehensively evaluate evidence on the impact of folic acid on neurodevelopment other than NTDs...
2016: PloS One
https://www.readbyqxmd.com/read/27875031/prevalence-of-neural-tube-defects-in-a-rural-area-of-north-india-from-2001-to-2014-a-population-based-survey
#12
Shashi Kant, Sumit Malhotra, Arvind Kumar Singh, Partha Haldar, Ravneet Kaur, Puneet Misra, Neerja Gupta
BACKGROUND: Neural tube defects (NTDs) are one of the commonest birth defects. There was paucity of community-based data on occurrence of NTDs in India, especially from rural parts of the country. Against this background, the current study was carried out with main objectives to determine the prevalence of NTDs and its specific types (anencephaly, spina bifida and encephalocele) in a rural community setting over the time period 2001 to 2014. METHODS: This was a community-based cross-sectional study carried out in 28 villages of Ballabgarh Tehsil of Faridabad district in north India (population ∼ 96,000)...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27871477/hypermethylation-of-akt2-gene-is-associated-with-neural-tube-defects-in-fetus
#13
Fei Fei Ma, Ding Ding Cao, Shengrong Ouyang, Renqiao Tang, Zhuo Liu, Yuanyuan Li, Jianxin Wu
INTRODUCTION: Neural-tube defects (NTDs) are common birth defects of complex etiology. Although many studies have confirmed a genetic component, the exact mechanism between DNA methylation and NTDs remains unclear. METHODS: In this work, we investigated the alteration of methylation from placental tissues obtained from 152 normal infants or with NTDs in 130 children with neural-tube defects. Genome-wide changes in DNA methylation were measured using the NimbleGen microarray...
December 2016: Placenta
https://www.readbyqxmd.com/read/27864380/setd5-is-essential-for-mammalian-development-and-co-transcriptional-regulation-of-histone-acetylation
#14
Anna B Osipovich, Rama Gangula, Pedro G Vianna, Mark A Magnuson
SET-domain containing proteins play a vital role in regulating gene expression during development through modifications in chromatin structure. Here we show that SET domain containing 5 (Setd5) is divergently transcribed with Gt(ROSA26)Sor, is necessary for mammalian development, and interacts with the PAF1 co-transcriptional complex and other proteins. Setd5-deficient embryos exhibit severe defects in neural tube formation, somitogenesis, and cardiac development, have aberrant vasculogenesis in embryos, yolk sacs, and placentas; and die between embryonic day 10...
November 18, 2016: Development
https://www.readbyqxmd.com/read/27863774/-women-s-knowledge-of-folic-acid
#15
Mathilde Salgues, Christine Damase-Michel, Jean-Louis Montastruc, Isabelle Lacroix
Many trials have shown that folic acid supplementation before and during pregnancy reduces the risk of neural tube defects in general population. We investigated the knowledge of folic acid in women of child-bearing age. Women of child-bearing age were interviewed by 20 pharmacists living in Haute-Garonne between January and February 2014. One hundred ninety-six women were included in the present study. Out of them, 36% of women never heard of folic acid and 82% were not aware of its benefits. Knowledge was higher in older women, women in a couple and women with higher educational level (P<10(-2))...
October 27, 2016: Thérapie
https://www.readbyqxmd.com/read/27860192/metabolite-profiling-of-whole-murine-embryos-reveals-metabolic-perturbations-associated-with-maternal-valproate-induced-neural-tube-closure-defects
#16
Darya Akimova, Bogdan J Wlodarczyk, Ying Lin, M Elizabeth Ross, Richard H Finnell, Qiuying Chen, Steven S Gross
BACKGROUND: Valproic acid (VPA) is prescribed therapeutically for multiple conditions, including epilepsy. When taken during pregnancy, VPA is teratogenic, increasing the risk of several birth and developmental defects including neural tube defects (NTDs). The mechanism by which VPA causes NTDs remains controversial and how VPA interacts with folic acid (FA), a vitamin commonly recommended for the prevention of NTDs, remains uncertain. We sought to address both questions by applying untargeted metabolite profiling analysis to neural tube closure (NTC) stage mouse embryos...
November 18, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27857793/newborn-with-meroanencephaly-surviving-all-odds
#17
Iraj Alam Khan, Uzma Firdaus, Syed Manazir Ali, Imran Asghar
Neural tube defects are a group of congenital anomalies of brain development that carry a significant risk of morbidity and mortality. Anencephaly is a serious form of this defect with a very poor prognosis. It can present in three forms - meroanencephaly, holoanencephaly, and craniorachischisis. Meroanencephaly is considered to be the classic form of anencephaly. It manifests as a lack of cranial vault bones and exposed dorsal neural tissue resulting from defective neural tube closure in the very early period of gestation...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857789/epidemiology-of-the-neural-tube-defects-in-kashmir-valley
#18
Masood Ahmed Laharwal, Arif Hussain Sarmast, Altaf Umer Ramzan, Abrar Ahad Wani, Nayil Khursheed Malik, Sajad Hussain Arif, Masooma Rizvi
INTRODUCTION/BACKGROUND: Neural tube defects (NTD) are the most common congenital malformations affecting the brain and spinal cord and have a multifactorial etiology. Genetic and environmental factors have been found to cause these defects, both individually and in combination. AIMS AND OBJECTIVES: The aim of this study was to determine the incidence, types, demographics, risk factors, and other associated anomalies relevant to NTDs in Kashmir Valley. MATERIALS AND METHODS: A 2-year hospital-based prospective study was carried out from November 2013 to October 2015...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27843847/peri-conceptional-supplementation-of-folic-acid-knowledge-and-practices-of-pregnant-women-and-health-providers
#19
Vartika Saxena, Manisha Naithani, Ranjeeta Kumari, Richa Singh, Pranoti Das
CONTEXT: Neural tube defects (NTDs) are one of the most common congenital anomalies. NTDs are preventable if folic acid (FA) is supplemented before and during conception. Knowledge and supplementation of FA by pregnant women as well as it's timely provision by health providers is crucial in reducing the burden of NTDs in the community. AIM: To study the knowledge and supplementation of FA by pregnant women and it's prescription/provision by health providers. SETTINGS AND DESIGN: A cross-sectional study was conducted in the block Doiwala, District Dehradun, Uttarakhand...
April 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/27832123/prevalence-of-congenital-anomalies-in-an-indian-maternal-cohort-healthcare-prevention-and-surveillance-implications
#20
Prajkta Bhide, Pooja Gund, Anita Kar
BACKGROUND: India lacks a national birth defects surveillance. Data on the prevalence of congenital anomalies are available mostly from hospital-based, cross-sectional studies. This is the first cohort study from India, where 2107 women were followed till pregnancy outcome, in order to measure the prevalence and types of congenital anomalies, their contribution to neonatal mortality, implications for surveillance, and the health service needs for prevention and management. METHODS: The study followed a cohort of 2107 pregnant women till outcome which was miscarriage, termination of pregnancy, live or stillbirth, neonatal and post-neonatal mortality...
2016: PloS One
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