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Birth Defects Research. Part A, Clinical and Molecular Teratology

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https://www.readbyqxmd.com/read/28029220/exome-sequencing-provides-additional-evidence-for-the-involvement-of-arhgap29-in-mendelian-orofacial-clefting-and-extends-the-phenotypic-spectrum-to-isolated-cleft-palate
#1
Huan Liu, Tamara Busch, Steven Eliason, Deepti Anand, Steven Bullard, Lord J J Gowans, Nichole Nidey, Aline Petrin, Eno-Abasi Augustine-Akpan, Irfan Saadi, Martine Dunnwald, Salil A Lachke, Ying Zhu, Adebowale Adeyemo, Brad Amendt, Tony Roscioli, Robert Cornell, Jeffrey Murray, Azeez Butali
BACKGROUND: Recent advances in genomics methodologies, in particular the availability of next-generation sequencing approaches have made it possible to identify risk loci throughout the genome, in particular the exome. In the current study, we present findings from an exome study conducted in five affected individuals of a multiplex family with cleft palate only. METHODS: The GEnome MINIng (GEMINI) pipeline was used to functionally annotate the single nucleotide polymorphisms, insertions and deletions...
December 28, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28009100/rare-copy-number-variants-in-a-population-based-investigation-of-hypoplastic-right-heart-syndrome
#2
Aggeliki Dimopoulos, Robert J Sicko, Denise M Kay, Shannon L Rigler, Charlotte M Druschel, Michele Caggana, Marilyn L Browne, Ruzong Fan, Paul A Romitti, Lawrence C Brody, James L Mills
BACKGROUND: Hypoplastic right heart syndrome (HRHS) is a rare congenital defect characterized by underdevelopment of the right heart structures commonly accompanied by an atrial septal defect. Familial HRHS reports suggest genetic factor involvement. We examined the role of copy number variants (CNVs) in HRHS. METHODS: We genotyped 32 HRHS cases identified from all New York State live births (1998-2005) using Illumina HumanOmni2.5 microarrays. CNVs were called with PennCNV and prioritized if they were ≥20 Kb, contained ≥10 SNPs and had minimal overlap with CNVs from in-house controls, the Database of Genomic Variants, HapMap3, and Childrens Hospital of Philadelphia database...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/28008752/high-levels-of-iron-supplementation-prevents-neural-tube-defects-in-the-fpn1-ffe-mouse-model
#3
Bethany A Stokes, Julia A Sabatino, Irene E Zohn
BACKGROUND: Periconception maternal nutrition and folate in particular are important factors influencing the incidence of neural tube defects (NTDs). Many but not all NTDs are prevented by folic acid supplementation and there is a pressing need for additional strategies to prevent these birth defects. Other micronutrients such as iron are potential candidates, yet a clear role for iron deficiency in contributing to NTDs is lacking. Our previous studies with the flatiron (ffe) mouse model of Ferroportin1 (Fpn1) deficiency suggest that iron is required for neural tube closure and forebrain development raising the possibility that iron supplementation could prevent NTDs...
December 23, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27933721/shared-molecular-networks-in-orofacial-and-neural-tube-development
#4
Youssef A Kousa, Tamer A Mansour, Haitham Seada, Samaneh Matoo, Brian C Schutte
BACKGROUND: Single genetic variants can affect multiple tissues during development. Thus it is possible that disruption of shared gene regulatory networks might underlie syndromic presentations. In this study, we explore this idea through examination of two critical developmental programs that control orofacial and neural tube development and identify shared regulatory factors and networks. Identification of these networks has the potential to yield additional candidate genes for poorly understood developmental disorders and assist in modeling and perhaps managing risk factors to prevent morbidly and mortality...
December 9, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27918138/association-of-essential-trace-metals-in-maternal-hair-with-the-risk-of-neural-tube-defects-in-offspring
#5
Lailai Yan, Bin Wang, Zhenjiang Li, Yaqiong Liu, Wenhua Huo, Jingyu Wang, Zhiwen Li, Aiguo Ren
BACKGROUND: The relationship between essential trace metals (ETMs) and the risk of neural tube defects (NTDs) is still unclear. One of the challenges is to evaluate the intake of ETMs of women during their early period of pregnancy. We proposed the hypothesis that an ETM deficiency in women during their early period of pregnancy is associated with an elevated risk of NTDs in offspring. METHODS: We recruited 191 women with NTD-affected pregnancies (case group) and 261 women who delivered healthy infants (control group)...
December 5, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905204/editorial-a-unified-birth-defects-research
#6
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/27905191/race-and-ethnicity-and-preconception-folic-acid-supplement-use-among-pregnant-women-in-georgia-prams-2009-to-2011
#7
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/27891739/acardiac-twin-pregnancies-part-iv-acardiac-onset-from-unequal-embryonic-splitting-simulated-by-a-fetoplacental-resistance-model
#8
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/28000437/corrigendum-for-levels-of-folate-receptor-autoantibodies-in-maternal-and-cord-blood-and-risk-of-neural-tube-defects-in-a-chinese-population-106-685-695-10-1002-bdra-23517
#9
Na Yang, Linlin Wang, Richard H Finnell, Zhiwen Li, Lei Jin, Le Zhang, Robert M Cabrera, Rongwei Ye, Aiguo Ren
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27905192/response-to-dr-kirby
#10
LETTER
Gary M Shaw, Wei Yang, Suzan L Carmichael
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27900843/response-to-letter-to-the-editor-by-wise
#11
LETTER
Laetitia Laurent, Chunwei Huang, Sheila R Ernest, Anick Berard, Cathy Vaillancourt, Barbara F Hales
No abstract text is available yet for this article.
December 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
#12
LETTER
David Wise
No abstract text is available yet for this article.
December 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
#13
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...
December 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
#14
LETTER
Russell S Kirby
No abstract text is available yet for this article.
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27704687/diprosopus-systematic-review-and-report-of-two-cases
#15
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)...
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27629527/acardiac-twin-pregnancies-part-iii-model-simulations
#16
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...
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27384265/in-utero-exposure-to-venlafaxine-a-serotonin-norepinephrine-reuptake-inhibitor-increases-cardiac-anomalies-and-alters-placental-and-heart-serotonin-signaling-in-the-rat
#17
Laetitia Laurent, Chunwei Huang, Sheila R Ernest, Anick Berard, Cathy Vaillancourt, Barbara F Hales
BACKGROUND: Human studies are inconsistent with respect to an association between treatment with selective serotonin and serotonin-norepinephrine reuptake inhibitors (SSRI/SNRIs) and an increase in the incidence of congenital heart defects. Here we tested the hypothesis that in utero exposure to venlafaxine, a highly prescribed SNRI, increases the incidence of fetal heart defects and alters placental and fetal heart serotonin signaling in the rat. METHODS: Timed-pregnant Sprague Dawley rats were gavaged daily with venlafaxine hydrochloride (0, 3, 10, 30, or 100 mg/kg/day) from gestation day 8 to 20...
December 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
https://www.readbyqxmd.com/read/27191125/folic-acid-fortification-and-prevalences-of-neural-tube-defects-orofacial-clefts-and-gastroschisis-in-california-1989-to-2010
#18
Wei Yang, Suzan L Carmichael, Gary M Shaw
BACKGROUND: We examined whether prevalences of neural tube defects (NTDs), orofacial clefts, and gastroschisis changed more rapidly after than before folic acid fortification in California. METHODS: This population-based study used vital statistics and birth defects registry data. The study population included all live births and stillbirths delivered in central California counties from 1989 to 2010. Cases included deliveries with NTDs, orofacial clefts, and gastroschisis...
December 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
#19
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
#20
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
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