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Neural tube defects

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https://www.readbyqxmd.com/read/28439323/caudal-regression-syndrome-a-case-series-of-a-rare-congenital-anomaly
#1
Yogesh Kumar, Nishant Gupta, Kusum Hooda, Pranav Sharma, Salil Sharma, Puneet Kochar, Daichi Hayashi
BACKGROUND: Caudal regression syndrome is a rare, neural tube defect characterized by an abnormal development of the caudal aspect of the vertebral column and the spinal cord., It results in neurological deficits ranging from bladder and bowel involvement to severe sensory and motor deficits in the lower limbs. Maternal diabetes, genetic factors and some teratogens have been shown to be associated with its pathogenesis. Caudal regression syndrome is usually diagnosed initially by antenatal ultrasound with more definitive diagnosis made by antenatal or postnatal MRI...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28434941/dysregulation-of-the-sirt1-oct6-axis-contributes-to-environmental-stress-induced-neural-induction-defects
#2
Guoping Li, Zeyidan Jiapaer, Rong Weng, Yi Hui, Wenwen Jia, Jiajie Xi, Guiying Wang, Songcheng Zhu, Xin Zhang, Dandan Feng, Ling Liu, Xiaoqing Zhang, Jiuhong Kang
Environmental stresses are increasingly acknowledged as core causes of abnormal neural induction leading to neural tube defects (NTDs). However, the mechanism responsible for environmental stress-triggered neural induction defects remains unknown. Here, we report that a spectrum of environmental stresses, including oxidative stress, starvation, and DNA damage, profoundly activate SIRT1, an NAD(+)-dependent lysine deacetylase. Both mouse embryos and in vitro differentiated embryonic stem cells (ESCs) demonstrated a negative correlation between the expression of SIRT1 and that of OCT6, a key neural fate inducer...
April 19, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28432198/folate-dependent-methylation-of-septins-governs-ciliogenesis-during-neural-tube-closure
#3
Manami Toriyama, Michinori Toriyama, John B Wallingford, Richard H Finnell
Periconception maternal folic acid (vitamin B9) supplementation can reduce the prevalence of neural tube defects (NTDs), although just how folates benefit the developing embryo and promote closing of the neural tube and other morphologic processes during development remains unknown. Folate contributes to a 1-carbon metabolism, which is essential for purine biosynthesis and methionine recycling and affects methylation of DNA, histones, and nonhistone proteins. Herein, we used animal models and cultured mammalian cells to demonstrate that disruption of the methylation pathway mediated by folate compromises normal neural tube closure (NTC) and ciliogenesis...
April 21, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28430874/developmental-sall2-transcription-factor-a-new-player-in-cancer
#4
Viviana E Hermosilla, Matias I Hepp, David Escobar, Carlos Farlas, Elizabeth N Riffo, Ariel F Castro, Roxana Pincheira
SALL2, also known as Spalt-like transcription factor 2, is a member of the SALL family of transcription factors involved in development and conserved through evolution. Since its identification in 1996, findings indicate that SALL2 plays a role in neurogenesis, neuronal differentiation and eye development. Consistently, SALL2 deficiency associates with neural tube defects and coloboma, a congenital eye disease. Relevant to cancer, clinical studies indicate that SALL2 is deregulated in various cancers, and is a specific biomarker for Synovial Sarcoma...
April 18, 2017: Carcinogenesis
https://www.readbyqxmd.com/read/28430184/the-ubiquitin-ligase-lin41-trim71-targets-p53-to-antagonize-cell-death-and-differentiation-pathways-during-stem-cell-differentiation
#5
Duong Thi Thuy Nguyen, Daniel Richter, Geert Michel, Sibylle Mitschka, Waldemar Kolanus, Elisa Cuevas, F Gregory Wulczyn
Rapidity and specificity are characteristic features of proteolysis mediated by the ubiquitin-proteasome system. Therefore, the UPS is ideally suited for the remodeling of the embryonic stem cell proteome during the transition from pluripotent to differentiated states and its inverse, the generation of inducible pluripotent stem cells. The Trim-NHL family member LIN41 is among the first E3 ubiquitin ligases to be linked to stem cell pluripotency and reprogramming. Initially discovered in C. elegans as a downstream target of the let-7 miRNA, LIN41 is now recognized as a critical regulator of stem cell fates as well as the timing of neurogenesis...
April 21, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28425110/neural-tube-defects-risk-factors-and-preventive-measures
#6
REVIEW
Atsuo Kondo, Takuya Matsuo, Nobuhito Morota, Atsuya S Kondo, Ikuyo Okai, Hiromi Fukuda
For the last 25 years, it has been proven that the occurrence or recurrence of neural tube defects can be prevented with the administration of folic acid before and early pregnancy. At present, over 80 countries in the world, except Japan, have mandated the fortification of wheat flour and/or rice with folic acid, which has resulted in a significant reduction in the prevalence of neural tube defects. In 2000, the Japanese government recommended folic acid 400 µg daily for young women of childbearing age and women who are planning to conceive...
April 19, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28424947/neurodevelopmental-effects-of-antiepileptic-drugs
#7
Marissa Kellogg, Kimford J Meador
Increasing evidence suggests that exposure to certain antiepileptic drugs (AEDs) during critical periods of development may induce transient or long-lasting neurodevelopmental deficits across cognitive, motor and behavioral domains. The developing nervous system may endure prolonged chronic exposure to AEDs during pregnancy (in utero) or during childhood, which can lead to neurodevelopmental defects such as congenital neural tube defects, lower IQ, language deficits, autism and ADHD. To date, valproate is the most widely recognized AED to significantly negatively affect neurodevelopment, and demonstrates greater adverse effects than any other AEDs that have been assessed...
April 19, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28420274/comparison-of-serum-folate-25-oh-vitamin-d-and-calcium-levels-between-pregnants-with-and-without-fetal-anomaly-of-neural-tube-origin
#8
Hicran Acar Sirinoglu, Kaan Pakay, Murat Aksoy, Işil Turan Bakırci, Enis Ozkaya, Ilhan Sanverdi
AIM: The aim of this study was to compare serum folate, vitamin B12, 25-OH vitamin D and calcium levels between pregnants with and without fetal anomaly of neural tube origin. METHODS: One hundred seventy eight pregnants were recruited for this study. Pregnants with and without sonographically detected fetal anomaly of neural tube origin were compared in terms of serum folate, vitamin B12, 25-OH vitamin D and calcium levels. RESULTS: There were significant differences between groups with regard to age, serum 25 OH vitamin D, 1,25 OH vitamin D, folate, calcium and B 12 levels...
April 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28415531/new-synthesis-of-poly-ortho-methoxyaniline-nanostructures-and-its-application-to-construct-modified-multi-wall-carbon-nanotube-graphite-paste-electrode-for-simultaneous-determination-of-uric-acid-and-folic-acid
#9
Hossein Rajabi, Meissam Noroozifar
Uric acid (UA) and folic acid (FA) are compounds of biomedical interest. In humans, about 70% of daily uric acid disposal occurs via the kidneys, and in 5-25% of humans, impaired renal (kidney) excretion leads to hyperuricemia. Folate is another form folic acid of which is known as, is one of the B vitamins. It is used as a supplement by women to prevent neural tube defects developing during pregnancy. Polyortho-methoxyaniline nanostructures (POMANS) was synthesized with a new two phase (organic-water) synthesis method...
June 1, 2017: Materials Science & Engineering. C, Materials for Biological Applications
https://www.readbyqxmd.com/read/28412554/prompt-peripheral-nerve-regeneration-induced-by-a-hierarchically-aligned-fibrin-nanofiber-hydrogel
#10
Jinrong Du, Jianheng Liu, Shenglian Yao, Haiquan Mao, Jiang Peng, Xun Sun, Zheng Cao, Yongdong Yang, Bo Xiao, Yiguo Wang, Peifu Tang, Xiumei Wang
Fibrin plays a crucial role in peripheral nerve regeneration, which could occur spontaneously in the format of longitudinally oriented fibrin cables during the initial stage of nerve regeneration. This fibrin cable can direct migration and proliferation of Schwann cells and axonal regrowth, which is very important to nerve regeneration. In the present study, we prepared a three-dimensional hierarchically aligned fibrin nanofiber hydrogel (AFG) through electrospinning and molecular self-assembly to resemble the architecture and biological function of the native fibrin cable...
April 12, 2017: Acta Biomaterialia
https://www.readbyqxmd.com/read/28411498/a-pilot-study-on-the-association-between-rare-earth-elements-in-maternal-hair-and-the-risk-of-neural-tube-defects-in-north-china
#11
Wenhua Huo, Yibing Zhu, Zhenjiang Li, Yiming Pang, Bin Wang, Zhiwen Li
Rare earth elements (REEs) have many applications in industry, agriculture, and medicine, resulting in occupational and environmental exposure and concerns regarding REE-associated health effects. However, few epidemiological studies have examined the adverse effects of REEs on pregnancy outcomes. Therefore, this study examined the relationship between the REE concentrations in maternal hair growing during early pregnancy and the risk of neural tube defects (NTDs) in offspring. We included 191 women with NTD-affected pregnancies (cases) and 261 women delivering healthy infants (controls)...
April 12, 2017: Environmental Pollution
https://www.readbyqxmd.com/read/28411382/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#12
Prasoona K Rebekah, Sunitha Tella, Srinadh Buragadda, Muni Kumari Tiruvatturu, Jyothy Akka
BACKGROUND: Neural tube defects (NTDs) are caused by the failure of neural tube formation which occurs during early embryonic development. NTDs are the most severe and leading cause of fetal mortality. Serine hydroxymethyl transferase (SHMT1) provides one-carbon units necessary for embryogenesis and defects in one-carbon production result in specific pathological conditions during pregnancy. The present study is aimed to evaluate the association of SHMT1 C1420T with NTD risk in the fetus using fetal, maternal and paternal groups by applying both case-control and family-based triad approaches...
April 14, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28407219/multiple-micronutrient-supplementation-for-women-during-pregnancy
#13
REVIEW
Batool A Haider, Zulfiqar A Bhutta
BACKGROUND: Multiple-micronutrient (MMN) deficiencies often coexist among women of reproductive age in low- to middle-income countries. They are exacerbated in pregnancy due to the increased demands, leading to potentially adverse effects on the mother and developing fetus. Though supplementation with MMNs has been recommended earlier because of the evidence of impact on pregnancy outcomes, a consensus is yet to be reached regarding the replacement of iron and folic acid supplementation with MMNs...
April 13, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28403928/-prenatal-diagnosis-of-neural-tube-defects-correlation-between-prenatal-and-postnatal-data
#14
L Matuszewski, E Perdriolle-Galet, I Clerc-Urmès, P Bach-Segura, O Klein, J P Masutti, O Morel
OBJECTIVES: Neural tube defects (NTD) are congenital anomalies that can cause significant neurological long-term disabilities. Theses malformations are accessible to prenatal diagnosis and quite recently, to in utero repair for some myelomeningoceles. The aim of this study was to analyse the correlation between prenatal and postnatal examinations. MATERIALS AND METHODS: A descriptive retrospective monocentric study has been conducted between January 2004 and December 2014 in a tertiary care maternity...
March 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28400561/a-hybrid-stochastic-model-of-folate-mediated-one-carbon-metabolism-effect-of-the-common-c677t-mthfr-variant-on-de-novo-thymidylate-biosynthesis
#15
Karla Misselbeck, Luca Marchetti, Martha S Field, Marco Scotti, Corrado Priami, Patrick J Stover
Folate-mediated one-carbon metabolism (FOCM) is an interconnected network of metabolic pathways, including those required for the de novo synthesis of dTMP and purine nucleotides and for remethylation of homocysteine to methionine. Mouse models of folate-responsive neural tube defects (NTDs) indicate that impaired de novo thymidylate (dTMP) synthesis through changes in SHMT expression is causative in folate-responsive NTDs. We have created a hybrid computational model comprised of ordinary differential equations and stochastic simulation...
April 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28398703/air-pollution-neighborhood-acculturation-factors-and-neural-tube-defects-among-hispanic-women-in-california
#16
Amy M Padula, Wei Yang, Suzan L Carmichael, Frederick Lurmann, John Balmes, S Katharine Hammond, Gary M Shaw
BACKGROUND: Neural tube defects (NTDs) are one of the most common types of birth defects. Environmental pollutants and acculturation have been associated with NTDs independently. The potential effect modification of acculturation in the relationship between ambient air pollution and risks of NTDs is not well understood. METHODS: We investigated whether associations between traffic-related air pollutant exposure in early gestation and NTDs, and more specifically spina bifida, were modified by individual and neighborhood acculturation factors among 139 cases and 466 controls born in the San Joaquin Valley of California, 1997 to 2006...
April 3, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398651/papers-from-the-ninth-international-conference-on-neural-tube-defects
#17
EDITORIAL
Philip J Lupo, Irene Zohn
No abstract text is available yet for this article.
January 30, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28398620/high-ratios-of-c20-4n-6-c20-5n-3-and-thromboxane-b2-6-keto-prostaglandin-f1%C3%AE-in-placenta-are-potential-risk-contributors-for-neural-tube-defects-a-case-control-study-in-shanxi-province-china
#18
Kelei Li, Xiaotian Zhang, Lijun Pei, Gong Chen, Jianmeng Liu, Mark L Wahlqvist, Xiaoying Zheng, Duo Li
BACKGROUND: Neural tube defects (NTDs) are severe congenital malformations. Folate supplementation can reduce the risk, but cannot prevent all NTDs, suggesting other reasons for folate-resistant NTDs. The present study assesses placental fatty acid composition, eicosanoids, and cytokines as risk factors for NTDs in a Chinese population with highly incident NTDs. METHODS: Seventy-seven aborted fetuses with NTDs during the third trimester were cases and 142 healthy newborns were controls...
March 24, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28397377/yield-of-a-12-13-week-scan-for-the-early-diagnosis-of-fetal-congenital-anomalies-in-the-cell-free-dna-era
#19
M J A Kenkhuis, M Bakker, F Bardi, F Fontanella, M K Bakker, H Fleurke-Rozema, C M Bilardo
OBJECTIVE: Aim of the study was to assess the percentage and type of anomalies (structural and chromosomal) that can be detected at an early scan performed at 12-13 weeks' gestation, as opposed to the present screening policy (20 -week scan). METHODS: Sonographers accredited for the nuchal translucency (NT) measurement were asked, after additional training, to participate into the study. The early scans were performed according to a protocol, in six ultrasound practices and 2 referral centers in the Northeast of the Netherlands...
April 11, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28397206/relationship-between-maternal-blood-ceruloplasmin-level-catalase-and-myeloperoxidase-activity-and-neural-tube-defects
#20
Orkun Cetin, Erbil Karaman, Baris Boza, Numan Cim, Murat Alisik, Ozcan Erel, Ismet Alkis, Recep Yildizhan, Ali Kolusari, Guler Hanım Sahin
OBJECTIVES: The exact pathogenesis of neural tube defects (NTDs) is poorly understood. We aimed at evaluating maternal anti-oxidant capacity (ceruloplasmin level, myeloperoxidase and catalase activity) in pregnancies complicated by NTDs. MATERIAL AND METHODS: Fifty-four mothers with NTD-affected pregnancies and 61 healthy mothers, matched for gestational age, were recruited. Maternal venous blood samples were obtained after detailed fetal ultrasound examination to measure myeloperoxidase, catalase activity and ceruloplasmin levels...
2017: Ginekologia Polska
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