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Birth Defects Research. Part A, Clinical and Molecular Teratology

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https://www.readbyqxmd.com/read/27905204/editorial-a-unified-birth-defects-research
#1
EDITORIAL
George P Daston, Rocky S Tuan, Michel Vekemans
No abstract text is available yet for this article.
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905192/response-to-dr-kirby
#2
LETTER
Gary M Shaw, Wei Yang, Suzan L Carmichael
No abstract text is available yet for this article.
December 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905191/race-and-ethnicity-and-preconception-folic-acid-supplement-use-among-pregnant-women-in-georgia-prams-2009-to-2011
#3
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/27900843/response-to-letter-to-the-editor-by-wise
#4
LETTER
Laetitia Laurent, Chunwei Huang, Sheila R Ernest, Anick Berard, Cathy Vaillancourt, Barbara F Hales
No abstract text is available yet for this article.
November 30, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27900842/letter-to-the-editor-comments-on-venlafaxine-paper-by-laurent-et-al
#5
LETTER
David Wise
No abstract text is available yet for this article.
November 30, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27891739/acardiac-twin-pregnancies-part-iv-acardiac-onset-from-unequal-embryonic-splitting-simulated-by-a-fetoplacental-resistance-model
#6
Martin J C van Gemert, Jeroen P H M van den Wijngaard, K Marieke Paarlberg, Helena M Gardiner, Peter G J Nikkels
BACKGROUND: Benirschke postulated that acardiac twinning occurs when markedly unequal embryonic splitting combines with arterioarterial (AA) and venovenous placental anastomoses. We tested this hypothesis by model simulations and by comparison of outcomes with 18 "pseudo-" (twin fetus with beating heart but otherwise with clear signs of an acardiac) and 3 "normal" acardiac cases. METHODS: The smaller/larger cell volume ratio at embryonic splitting becomes the smaller/larger embryonic/fetal blood volume ratio (a)...
November 28, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27883265/genomic-approaches-to-the-assessment-of-human-spina-bifida-risk
#7
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
#8
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/27875031/prevalence-of-neural-tube-defects-in-a-rural-area-of-north-india-from-2001-to-2014-a-population-based-survey
#9
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/27875028/congenital-malformations-in-offspring-of-women-with-a-history-of-malignancy
#10
Zahra Sabeti Rad, Britt Friberg, Emir Henic, Lars Rylander, Olof Ståhl, Bengt Källén, Göran Lingman
BACKGROUND: Survival after malignancy has increased and the question of risks, including risk for congenital malformations for the offspring of these women has become important. Data on congenital malformations in such offspring are limited. METHODS: We compared congenital malformation in offspring, born 1994 to 2011 of women with a history of malignancy (at least 1 year before delivery) with all other offspring. Adjustment for confounders was mainly made by Mantel-Haenszel methodology...
November 22, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27860192/metabolite-profiling-of-whole-murine-embryos-reveals-metabolic-perturbations-associated-with-maternal-valproate-induced-neural-tube-closure-defects
#11
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/27801979/preaxial-polydactyly-following-early-gestational-exposure-to-the-smoothened-agonist-sag-in-c57bl-6j-mice
#12
Eric W Fish, Scott E Parnell, Kathleen K Sulik, Lorinda K Baker, Laura B Murdaugh, David Lamson, Kevin P Williams
BACKGROUND: While pharmacological activation of the Hedgehog (HH) signaling pathway may have therapeutic benefits for developmental and adult diseases, its teratogenic potential is of concern. The membrane molecule Smoothened (SMO) transduces HH signaling and can be acutely modulated by antagonists and agonists. The objective of the current experiments was to determine how maternal treatment with the Smo agonist, SAG, affects the developing limb. METHODS: Pregnant C57BL/6J mice received a single injection of SAG (15, 17, or 20 mg/kg, i...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27801974/does-arsenic-increase-the-risk-of-neural-tube-defects-among-a-highly-exposed-population-a-new-case-control-study-in-bangladesh
#13
Maitreyi Mazumdar
BACKGROUND: Neural tube defects are debilitating birth defects that occur when the developing neural plate fails to close in early gestation. Arsenic induces neural tube defects in animal models, but whether environmental arsenic exposure increases risk of neural tube defects in humans is unknown. METHODS: We describe a new case-control study in Bangladesh, a country currently experiencing an epidemic of arsenic poisoning through contaminated drinking water. We plan to understand how arsenic influences risk of neural tube defects in humans through mechanisms that include disruption of maternal glucose and folate metabolism, as well as epigenetic effects...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27801971/twenty-five-year-survival-for-aboriginal-and-caucasian-children-with-congenital-heart-defects-in-western-australia-1980-to-2010
#14
Wendy N Nembhard, Jenny Bourke, Helen Leonard, Luke Eckersley, Jingyun Li, Carol Bower
BACKGROUND: Australian Aboriginal children have increased infant and childhood mortality compared with Caucasian children, but their mortality related to congenital heart defects (CHDs) throughout life is unknown. METHODS: We conducted a retrospective cohort study using data on 8,110 live born, singleton infants with CHDs born January 1980 to December 2010 from the Western Australian Register of Developmental Anomalies. Vital status was determined from death and medical records...
November 1, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27768247/associations-between-maternal-water-consumption-and-birth-defects-in-the-national-birth-defects-prevention-study-2000-2005
#15
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
https://www.readbyqxmd.com/read/27768235/genetic-backgrounds-and-modifier-genes-of-ntd-mouse-models-an-opportunity-for-greater-understanding-of-the-multifactorial-etiology-of-neural-tube-defects
#16
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
https://www.readbyqxmd.com/read/27731925/g-protein-coupled-receptor-signaling-and-neural-tube-closure-defects
#17
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
https://www.readbyqxmd.com/read/27731923/letter-to-the-editor-interpreting-trends-in-the-context-of-previous-evidence
#18
Russell S Kirby
No abstract text is available yet for this article.
October 12, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27704687/diprosopus-systematic-review-and-report-of-two-cases
#19
María Paz Bidondo, Boris Groisman, Agostina Tardivo, Fabián Tomasoni, Verónica Tejeiro, Inés Camacho, Mariana Vilas, Rosa Liascovich, Pablo Barbero
BACKGROUND: Diprosopus is a subtype of symmetric conjoined twins with one head, facial duplication and a single trunk. Diprosopus is a very rare congenital anomaly. METHODS: This is a systematic review of published cases and the presentation of two new cases born in Argentina. We estimated the prevalence of conjoined twins and diprosopus using data from the National Network of Congenital Anomalies of Argentina (RENAC). RESULTS: The prevalence of conjoined twins in RENAC was 19 per 1,000,000 births (95% confidence interval, 12-29)...
October 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27629527/acardiac-twin-pregnancies-part-iii-model-simulations
#20
Martin J C van Gemert, Michael G Ross, Peter G J Nikkels, Jeroen P H M van den Wijngaard
BACKGROUND: Acardiac monochorionic twins lack cardiac function but grow by passive perfusion of the pump twin's deoxygenated arterial blood through placental arterioarterial (AA) and venovenous (VV) anastomoses and by hypoxia-mediated neovascularization. Pump twins therefore must continuously increase their cardiac output which may cause heart failure. Our aims were: to adapt our twin-twin transfusion syndrome model for acardiac twin pregnancies, to simulate pump and acardiac twin development, and to examine the model for early prognostic markers of pump twin survival...
September 15, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
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