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Neural tube defect

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https://www.readbyqxmd.com/read/28805617/molecular-cytogenetic-characterization-of-a-duplication-of-15q24-2-q26-2-associated-with-anencephaly-and-neural-tube-defect
#1
Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Chen-Chi Lee, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: We present molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect (NTD). CASE REPORT: A 35-year-old pregnant woman was found to have a fetus with anencephaly by prenatal ultrasound at 12 weeks of gestation. The pregnancy was subsequently terminated, and a malformed fetus was delivered with anencephaly. Cytogenetic analysis of the cultured placental tissues revealed a karyotype of 46,XX,dup(15) (q24...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28798665/maternal-diabetes-alters-expression-of-micrornas-that-regulate-genes-critical-for-neural-tube-development
#2
Seshadri Ramya, Sukanya Shyamasundar, Boon Huat Bay, S Thameem Dheen
Maternal diabetes is known to cause neural tube defects (NTDs) in embryos and neuropsychological deficits in infants. Several metabolic pathways and a plethora of genes have been identified to be deregulated in developing brain of embryos by maternal diabetes, although the exact mechanism remains unknown. Recently, miRNAs have been shown to regulate genes involved in brain development and maturation. Therefore, we hypothesized that maternal diabetes alters the expression of miRNAs that regulate genes involved in biological pathways critical for neural tube development and closure during embryogenesis...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28797054/large-scale-wheat-flour-folic-acid-fortification-program-increases-plasma-folate-levels-among-women-of-reproductive-age-in-urban-tanzania
#3
Ramadhani A Noor, Ajibola I Abioye, Nzovu Ulenga, Salum Msham, George Kaishozi, Nilupa S Gunaratna, Ramadhani Mwiru, Erin Smith, Christina Nyhus Dhillon, Donna Spiegelman, Wafaie Fawzi
There is widespread vitamin and mineral deficiency problem in Tanzania with known deficiencies of at least vitamin A, iron, folate and zinc, resulting in lasting negative consequences especially on maternal health, cognitive development and thus the nation's economic potential. Folate deficiency is associated with significant adverse health effects among women of reproductive age, including a higher risk of neural tube defects. Several countries, including Tanzania, have implemented mandatory fortification of wheat and maize flour but evidence on the effectiveness of these programs in developing countries remains limited...
2017: PloS One
https://www.readbyqxmd.com/read/28796762/notes-from-the-field-zika-virus-associated-neonatal-birth-defects-surveillance-texas-january-2016-july-2017
#4
Noemi Borsay Hall, Kelly Broussard, Nicole Evert, Mark Canfield
On November 28, 2016, the Texas Department of State Health Services (Texas DSHS) reported its first confirmed case of local mosquitoborne Zika virus transmission in the city of Brownsville, located in south Texas along the U.S.-Mexico border. Zika virus infection during pregnancy has been linked to adverse congenital outcomes including microcephaly, neural tube defects, early brain malformations, structural eye abnormalities, congenital deafness, and limb contractures (1). On January 1, 2016, Texas DSHS established enhanced surveillance to identify women with laboratory evidence of possible Zika virus infection during pregnancy and suspected cases of Zika virus-associated birth defects among completed pregnancies...
August 11, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28795440/single-site-neural-tube-closure-in-human-embryos-revisited
#5
Bernadette S de Bakker, Stan Driessen, Bastiaan Jd Boukens, Maurice Jh van den Hoff, Roelof-Jan Oostra
Introduction Since the multi-site closure theory was first proposed in 1991 as explanation for the preferential localizations of neural tube defects, the closure of the neural tube has been debated. Although the multi-site closure theory is much cited in clinical literature, single-site closure is most apparent in literature concerning embryology. Inspired by Victor Hamburgers (1900-2001) statement that "our real teacher has been and still is the embryo, who is, incidentally, the only teacher who is always right", we decided to critically review both theories of neural tube closure...
August 10, 2017: Clinical Anatomy
https://www.readbyqxmd.com/read/28793267/epigenomic-landscapes-of-hesc-derived-neural-rosettes-modeling-neural-tube-formation-and-diseases
#6
Cristina Valensisi, Colin Andrus, Sam Buckberry, Naresh Doni Jayavelu, Riikka J Lund, Ryan Lister, R David Hawkins
We currently lack a comprehensive understanding of the mechanisms underlying neural tube formation and their contributions to neural tube defects (NTDs). Developing a model to study such a complex morphogenetic process, especially one that models human-specific aspects, is critical. Three-dimensional, human embryonic stem cell (hESC)-derived neural rosettes (NRs) provide a powerful resource for in vitro modeling of human neural tube formation. Epigenomic maps reveal enhancer elements unique to NRs relative to 2D systems...
August 8, 2017: Cell Reports
https://www.readbyqxmd.com/read/28791750/histone-deacetylase-1-and-2-are-essential-for-murine-neural-crest-proliferation-pharyngeal-arch-development-and-craniofacial-morphogenesis
#7
Zachary J Milstone, Grace Lawson, Chinmay M Trivedi
BACKGROUND: Craniofacial anomalies involve defective pharyngeal arch development and neural crest function. Copy number variation at 1p35, containing histone deacetylase 1 (Hdac1), or 6q21-22, containing Hdac2, are implicated in patients with craniofacial defects, suggesting an important role in guiding neural crest development. However, the roles of Hdac1 and Hdac2 within neural crest cells remain unknown. RESULTS: The neural crest and its derivatives express both Hdac1 and Hdac2 during early murine development...
August 9, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28770950/prevention-of-neural-tube-defects-and-maternal-gestational-diabetes-through-the-inositol-supplementation-preliminary-results
#8
D Dell'Edera, F Sarlo, A Allegretti, A A Epifania, F Simone, M G Lupo, M Benedetto, M R D'Apice, A Capalbo
OBJECTIVE: Our study aims to demonstrate that the use in the preconceptional period until the 24th week of pregnancy of inositol and folic acid, first of all, preserves the product of conception from neural tube defects (NTDs) and then, thanks to inositol supplementation, it possibly counteracts and prevents the onset of maternal gestational diabetes (GDM). PATIENTS AND METHODS: We have collected data derived from pregnant women arrived at our laboratory, from January 2014 to January 2016, with no family history of type 2 diabetes and hypertension...
July 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/28770393/association-of-neural-tube-defects-with-gene-polymorphisms-in-one-carbon-metabolic-pathway
#9
Lirong Cao, Yizheng Wang, Ruiping Zhang, Liang Dong, Hualei Cui, Yulian Fang, Linsheng Zhao, Ouyan Shi, Chunquan Cai
PURPOSE: Neural tube defects (NTDs) are common congenital malformations. In this study, we aimed to explore the association between single nucleotide polymorphisms (SNPs) related to one-carbon metabolism (OCM) and NTDs in Han population of Northern China. METHODS: A case-control study was conducted in 152 children with NTDs and 169 controls. Twenty-nine SNPs in five genes were genotyped by Sequenom MassARRAY technology, and haplotype analysis was done by Haploview4...
August 2, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28766872/population-based-case-control-study-of-the-association-between-weather-related-extreme-heat-events-and-neural-tube-defects
#10
Aida Soim, Shao Lin, Scott C Sheridan, Syni-An Hwang, Wan-Hsiang Hsu, Thomas J Luben, Gary M Shaw, Marcia L Feldkamp, Paul A Romitti, Jennita Reefhuis, Peter H Langlois, Marilyn L Browne
BACKGROUND: Elevated body core temperature has been shown to have teratogenic effects in animal studies. Our study evaluated the association between weather-related extreme heat events (EHEs) in the summer season and neural tube defects (NTDs), and further investigated whether pregnant women with a high pregestational body mass index (BMI) have a greater risk of having a child with NTDs associated with exposure to EHE than women with a normal BMI. METHODS: We conducted a population-based case-control study among mothers of infants with NTDs and mothers of infants without major birth defects, who participated in the National Birth Defects Prevention Study and had at least 1 day of the third or fourth week postconception during summer months...
August 2, 2017: Birth defects research
https://www.readbyqxmd.com/read/28765025/congenital-malformations-of-the-central-nervous-system-in-rural-western-honduras-a-6-year-report-on-trends
#11
Dagoberto Estevez-Ordonez, Michael C Dewan, Michael J Feldman, Eleazar E Montalvan-Sanchez, Daniela M Montalvan-Sanchez, Aida A Rodriguez-Murillo, Samuel A Urrutia-Argueta, Charlotte B Cherry, Douglas R Morgan, Roberto Alvarez-Rodriguez, Christopher M Bonfield
BACKGROUND: Central nervous system (CNS) malformations including neural tube defects (NTDs) are the second most common type of birth defects world-wide, and are major causes of childhood disability and mortality. We report the first analysis of prevalence in Western Honduras of CNS malformations including NTDs over six consecutive years. METHODS: Data from all patients with congenital CNS malformations and total live births between 2010 and 2015 were obtained through institution and regional registries from all three public referral hospitals in Western Honduras, representing 67 municipalities...
July 29, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28763666/are-concentrations-of-alkaline-earth-elements-in-maternal-hair-associated-with-risk-of-neural-tube-defects
#12
Zhenjiang Li, Bin Wang, Wenhua Huo, Yingying Liu, Yibing Zhu, Jing Xie, Zhiwen Li, Aiguo Ren
The relationship between maternal intake of alkaline earth elements (AEEs) during the period of neural tube closure and the risk of neural tube defects (NTDs) is still unclear. We propose that AEE deficiency during the early period of pregnancy is associated with an elevated risk of NTDs in the offspring. In this study, we recruited 191 women with NTD-affected pregnancies (cases) and 261 women who delivered healthy infants (controls). The concentrations of four AEEs (Ca, Mg, Sr, Ba) in maternal hair sections that grew during early pregnancy were analyzed...
July 28, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/28762673/interaction-between-maternal-and-paternal-shmt1-c1420t-predisposes-to-neural-tube-defects-in-the-fetus-evidence-from-case-control-and-family-based-triad-approaches
#13
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...
July 17, 2017: Birth defects research
https://www.readbyqxmd.com/read/28748262/erratum-to-notomelia-and-related-neural-tube-defects-in-a-baby-born-in-niger-case-report-and-literature-review
#14
A B Kelani, H Moumouni, A W Issa, H Younsaa, Hmu Fokou, R Sani, S Sanoussi, L J Denholm, J E Beever, M Catala
No abstract text is available yet for this article.
July 26, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28742214/association-of-combined-gif290t-c-heterozygous-mutation-fut2-secretor-variant-with-neural-tube-defects
#15
R M Guéant-Rodriguez, C Chery, B-M Fofou-Caillierez, J Voirin, B Foliguet, T Josse, D Tramoy, F François, J-L Guéant
Folate and vitamin B12 are needed for the proper embryo-fetal development possibly through their interacting role in the one-carbon metabolism. Folate fortification reduces the prevalence of complex birth defects, and more specifically neural tube defects (NTD). GIF and FUT2 are two genes associated with the uptake and blood level of vitamin B12. We evaluated GIF and FUT2 as predictors of severe birth defects, in 181 aborted fetuses compared to 375 healthy newborns. The GIF290C allele frequency was estimated to 0...
July 25, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28736116/central-nervous-system-anomalies-in-craniofacial-microsomia-a-systematic-review
#16
REVIEW
R W Renkema, C J J M Caron, E B Wolvius, D J Dunaway, C R Forrest, B L Padwa, M J Koudstaal
Extracraniofacial anomalies, including central nervous system (CNS) anomalies, may occur in craniofacial microsomia (CFM). This systematic review was performed to provide an overview of the literature on the prevalence and types of CNS anomalies and developmental disorders in CFM, in order to improve the recognition and possible treatment of these anomalies. A systematic search was conducted and data on the number of patients, patient characteristics, type and prevalence of CNS anomalies or developmental delay, and correlations between CFM and CNS anomalies were extracted...
July 20, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28734746/spina-bifida-management
#17
Leslie A Phillips, Justin M Burton, Sarah Helen Evans
Myelomeningocele, commonly known as spina bifida, is a birth defect in which the spinal cord does not develop properly due to incomplete closure of the neural tube at 28 days of gestation. With advances in treatment modalities, technologies, and medical knowledge, people with spina bifida in the United States are living well into adulthood. Myelomeningocele management includes life-long comprehensive neurologic, urologic, musculoskeletal, skin, and habilitation management. We describe approaches to the same, with an emphasis on the signs and symptoms of medical urgencies and emergencies of which every pediatrician must be aware...
July 19, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28733112/distinctions-in-gene-specific-changes-in-dna-methylation-in-response-to-folic-acid-supplementation-between-women-with-normal-weight-and-obesity
#18
Hea Jin Park, Lynn B Bailey, Deanna C Shade, Dorothy B Hausman, Natalie M Hohos, Richard B Meagher, Gail Pa Kauwell, Richard D Lewis, Alicia K Smith
BACKGROUND/OBJECTIVES: Obesity and maternal folate deficiency are associated with increased risk for neural tube defects (NTDs). Limited knowledge exists on the impact of folate status or obesity on DNA methylation of genes related to NTD risk and folate metabolism. SUBJECTS/METHODS: Women (18-35y) with normal weight (NW; BMI 18.5-24.9kg/m(2); n=12) and obesity (OB; BMI >30kg/m(2); n=6) were provided FA (800μg/d) for 8-weeks. Serum folate concentration and changes in DNA methylation across 2098 CpG sites in 91 genes related to NTD risk and folate metabolism were examined...
July 18, 2017: Obesity Research & Clinical Practice
https://www.readbyqxmd.com/read/28727133/is-unexplained-elevated-maternal-serum-alpha-fetoprotein-still-important-predictor-for-adverse-pregnancy-outcome
#19
Derya Başbuğ, Alper Başbuğ, Cavidan Gülerman
OBJECTIVES: The purpose of this study was to determined the predictive value of maternal serum alpha-fetoprotein (MSAFP) as a marker for adverse pregnancy outcomes. MATERIAL AND METHODS: This study was carried out at Dr. Zekai Tahir Burak Women's Health Education and Research Hospital between 2009 and 2010. This study included a total of 1,177 pregnant women, including 170 in the study group and 1,007 in the control group. Pregnancy outcomes and characteristics were analyzed with regard to the MSAFP value...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28724645/effect-of-maternal-high-dosages-of-folic-acid-supplements-on-neurocognitive-development-in-children-at-4-5-years-of-age-the-prospective-birth-cohort-infancia-y-medio-ambiente-inma-study
#20
Desirée Valera-Gran, Eva M Navarrete-Muñoz, Manuela Garcia de la Hera, Ana Fernández-Somoano, Adonina Tardón, Jesús Ibarluzea, Nekane Balluerka, Mario Murcia, Llúcia González-Safont, Dora Romaguera, Jordi Julvez, Jesús Vioque
Background: The benefits of the use of folic acid supplements (FASs) during the periconception period to prevent neural tube defects and to ensure normal brain development in offspring are well known. There is concern, however, about the long-term effects of the maternal use of high dosages of FASs that exceed the Tolerable Upper Intake Level (UL) (≥1000 μg/d) on child neurocognitive outcomes.Objective: The objective of the study was to examine the association between the use of high dosages of FASs during pregnancy and child neuropsychological development at ages 4-5 y...
July 19, 2017: American Journal of Clinical Nutrition
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