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Birth Defects Research

Christopher D Lopez, Lukasz Witek, Andrea Torroni, Roberto L Flores, David B Demissie, Simon Young, Bruce N Cronstein, Paulo G Coelho
Craniomaxillofacial congenital anomalies comprise approximately one third of all congenital birth defects and include deformities such as alveolar clefts, craniosynostosis, and microtia. Current surgical treatments commonly require the use of autogenous graft material which are difficult to shape, limited in supply, associated with donor site morbidity and cannot grow with a maturing skeleton. Our group has demonstrated that 3D printed bio-ceramic scaffolds can generate vascularized bone within large, critical-sized defects (defects too large to heal spontaneously) of the craniomaxillofacial skeleton...
May 20, 2018: Birth Defects Research
Suzan L Carmichael, Chen Ma, Alissa R Van Zutphen, Cynthia A Moore, Gary M Shaw
INTRODUCTION: We examined the association of biliary atresia with maternal dietary intake, using National Birth Defects Prevention Study (NBDPS) data from 152 cases and 11,112 nonmalformed controls born 1997-2011. METHODS: NBDPS is a multisite, population-based case-control study. Exposure data were from maternal telephone interviews, which included a food frequency questionnaire. Odds ratios (OR) and 95% confidence intervals (CI) were generated from logistic regression models that included nutritional factors as continuous variables and were adjusted for energy intake only or energy intake plus covariates (maternal race-ethnicity, education, age, prepregnancy body mass index, vitamin/mineral supplement intake, conception during summer)...
May 15, 2018: Birth Defects Research
Yuqi Dong, Linlin Wang, Yunping Lei, Na Yang, Robert M Cabrera, Richard H Finnell, Aiguo Ren
BACKGROUND: Folate receptors (FRs) facilitate embryonic uptake of folates and are important for proper early embryonic development. There is accumulating evidence that blocking FR autoantibodies contribute to developmental diseases. However, genetic factors associated with the expression of FR autoantibodies remain unknown. OBJECTIVE: We investigated the effects of genetic polymorphisms in folate pathway genes on FR autoantibody titers in women. METHODS: We recruited 302 pregnant women in China...
May 6, 2018: Birth Defects Research
Xiaoya Gao, Richard H Finnell, Hongyan Wang, Yufang Zheng
BACKGROUND: Neural tube defects (NTDs) are clinically significant congenital malformations which are known to be folic acid (FA) responsive, such that supplementation significantly reduces the prevalence of NTDs. Nonetheless, some individuals fail to respond to FA supplementation; hence NTDs remain a significant public health concern. The mechanisms that underlie the beneficial effects of FA supplementation remain poorly understood. Mouse models have been used extensively to study the mechanisms driving neural tube closure (NTC)...
May 6, 2018: Birth Defects Research
Carin Eldridge, Sruti Bandlamuri, Jennifer G Andrews, Maureen Kelly Galindo, Dianna Contreras, Timothy J Flood, Sydney Rice
BACKGROUND: Spina bifida accounts for a large proportion of birth defects in the United States. Studies have evaluated the decrease in prevalence at birth after folate fortification of food grains, but little is known about neurologic functional changes related to fortification. This study assesses the functional level of lesions in the prefortification and postfortification eras. METHODS: Data were collected through retrospective review of medical records from a regional multispecialty clinic in Arizona...
March 25, 2018: Birth Defects Research
Nori Matsunami, Hari Shanmugam, Lisa Baird, Jeff Stevens, Janice L Byrne, Douglas C Barnhart, Carrie Rau, Marcia L Feldkamp, Bradley A Yoder, Mark F Leppert, H Joseph Yost, Luca Brunelli
OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm that causes high newborn morbidity and mortality. CDH is considered to be a multifactorial disease, with strong evidence implicating genetic factors. Although recent studies suggest the biological role of deleterious germline de novo variants, the effect of gene variants specific to the diaphragm remains unclear, and few single genes have been definitively implicated in human disease. METHODS: We performed genome sequencing on 16 individuals with CDH and their unaffected parents, including 10 diaphragmatic samples...
March 23, 2018: Birth Defects Research
John A Troutman, Mary C Sullivan, Gregory J Carr, Jeffrey Fisher
Physiologically based pharmacokinetic (PBPK) models are developed from compound-independent information to describe important anatomical and physiological characteristics of an individual or population of interest. Modeling pediatric populations is challenging because of the rapid changes that occur during growth, particularly in the first few weeks and months after birth. Neonates who are born premature pose several unique challenges in PBPK model development. To provide appropriate descriptions for body weight (BW) and height (Ht) for age and appropriate incremental gains in PBPK models of the developing preterm and full term neonate, anthropometric measurements collected longitudinally from 1,063 preterm and 158 full term neonates were combined with 2,872 cross-sectional measurements obtained from the NHANES 2007-2010 survey...
March 14, 2018: Birth Defects Research
Vijaya Kancherla
OBJECTIVES: Mandatory fortification of flour with folic acid has been proven to be a highly effective way to prevent spina bifida and anencephaly. Yet, over 100 countries worldwide do not implement this intervention. Our objectives were to identify countries with an immediate potential for mandatory fortification of wheat flour with folic acid and to estimate the number of preventable cases of spina bifida and anencephaly that would be averted each year through the intervention. METHODS: We examined folic acid fortification characteristics in countries as of September 2017...
March 13, 2018: Birth Defects Research
Sarah E Brown, Karilyn E Sant, Shana M Fleischman, Olivia Venezia, Monika A Roy, Ling Zhao, Alicia R Timme-Laragy
BACKGROUND: Butylparaben (butyl p-hydroxybenzoic acid) is a common cosmetic and pharmaceutical preservative reported to induce oxidative stress and endocrine disruption. Embryonic development is sensitive to oxidative stress, with redox potentials playing critical roles in progenitor cell fate decisions. Because pancreatic beta cells have been reported to have low antioxidant gene expression, they may be sensitive targets of oxidative stress. We tested the hypotheses that butylparaben causes oxidative stress in the developing embryo, and that pancreatic beta cells are a sensitive target of butylparaben embryotoxicity...
March 8, 2018: Birth Defects Research
Kari A Weber, Wei Yang, Suzan L Carmichael, Gary M Shaw
BACKGROUND: We previously explored associations between nutrients including folate and other macro and micronutrients and risks of anophthalmia or microphthalmia in the National Birth Defects Prevention Study. In the current study, we expand those previous results with larger sample sizes and conduct analyses with an additional diet quality index using more recent data. METHODS: The National Birth Defects Prevention Study is a population-based, multicenter case-control study of over 30 major birth defects, with estimated due dates from October 1997 to December 2011...
March 5, 2018: Birth Defects Research
Nina Ishorst, Paola Francheschelli, Anne C Böhmer, Mohammad Faisal J Khan, Stefanie Heilmann-Heimbach, Nadine Fricker, Julian Little, Regine P M Steegers-Theunissen, Borut Peterlin, Stefanie Nowak, Markus Martini, Teresa Kruse, Anton Dunsche, Thomas Kreusch, Lina Gölz, Khalid Aldhorae, Esam Halboub, Heiko Reutter, Peter Mossey, Markus M Nöthen, Michele Rubini, Kerstin U Ludwig, Michael Knapp, Elisabeth Mangold
BACKGROUND: Nonsyndromic cleft palate only (nsCPO) is a common and multifactorial form of orofacial clefting. In contrast to successes achieved for the other common form of orofacial clefting, that is, nonsyndromic cleft lip with/without cleft palate (nsCL/P), genome wide association studies (GWAS) of nsCPO have identified only one genome wide significant locus. Aim of the present study was to investigate whether common variants contribute to nsCPO and, if so, to identify novel risk loci...
March 2, 2018: Birth Defects Research
Shelby A Neal, Marie D Werner
Pre-implantation genetic screening and diagnosis represent important tools for embryo selection in patients undergoing in vitro fertilization. Methods have evolved in recent years and it can be challenging to remain up to date on the current technology. This review article seeks to provide an overview of pre-implantation genetic screening and diagnosis methods, the associated clinical outcomes, and the limitations of this technology.
May 1, 2018: Birth Defects Research
Sine Berntsen, Anja Pinborg
Increase in success rates with frozen embryo transfer (FET) and reduced risk of ovarian hyperstimulation syndrome (OHSS) and multiple pregnancies has lead to a steady rise in FET. Further, FET is associated with lower risk of prematurity and low birth weight in singletons, when compared with fresh transfer. However, there is a growing concern of increased risk of large for gestational (LGA) and/or macrosomic children after FET. Macrosomic/LGA births have a higher risk of cesarean section, fetal hypoxia and stillbirth...
May 1, 2018: Birth Defects Research
Belén Aparicio-Ruiz, Laura Romany, Marcos Meseguer
In this review, our aim is to give an overview of the state of the technology and clinical outcomes of time-lapse microscopy in improving embryo selection as a key step in in vitro fertilization (IVF). Using traditional incubators, morphologic assessment of the fertilized embryos is limited to snapshots at a few discrete points in time, reducing the amount of information that could potentially be obtained. Time-lapse monitoring overcomes this limitation without exposing the embryos to environmental changes...
May 1, 2018: Birth Defects Research
Rachel Weinerman
No abstract text is available yet for this article.
May 1, 2018: Birth Defects Research
Avinash S Patil, Cynthia Nguyen, Katie Groff, Jonathan Wu, John Elliott, Ravindu P Gunatilake
OBJECTIVE: Assisted reproductive technology (ART) has been associated with a higher incidence of congenital anomalies, including a specific increase in the rate of congenital heart defects (CHD). In this study, the rate of CHD in pregnancies resulting from ART at a single high-risk pregnancy referral center are compared to the published literature. METHODS: Pregnancies were screened by fetal echocardiography for the indication of ART over a 2-year period. CHD were classified as either mild or severe based on the need for postnatal surgical intervention...
May 1, 2018: Birth Defects Research
Kristin Van Heertum, Rachel Weinerman
In vitro fertilization (IVF) and embryo cryopreservation have become increasingly common in recent years. As utilization increases, it is important to understand the clinical effects these technologies have on offspring, as well as the mechanisms behind these effects. Many epidemiologic studies have observed that pregnancies following IVF are more likely to be affected by obstetric complications such as pre-eclampsia, preterm birth, and small for gestational age neonates compared with naturally conceived pregnancies...
May 1, 2018: Birth Defects Research
Jim Ridings
No abstract text is available yet for this article.
April 17, 2018: Birth Defects Research
Valerie Weitensteiner, Rong Zhang, Julia Bungenberg, Matthias Marks, Jan Gehlen, Damian J Ralser, Alina C Hilger, Amit Sharma, Johannes Schumacher, Ulrich Gembruch, Waltraut M Merz, Albert Becker, Janine Altmüller, Holger Thiele, Bernhard G Herrmann, Benjamin Odermatt, Michael Ludwig, Heiko Reutter
BACKGROUND: Syndromic brain malformations comprise a large group of anomalies with a birth prevalence of about 1 in 1,000 live births. Their etiological factors remain largely unknown. To identify causative mutations, we used whole-exome sequencing (WES) in aborted fetuses and children with syndromic brain malformations in which chromosomal microarray analysis was previously unremarkable. METHODS: WES analysis was applied in eight case-parent trios, six aborted fetuses, and two children...
April 17, 2018: Birth Defects Research
Stephanie Dukhovny, Carla M Van Bennekom, David R Gagnon, Sonia Hernandez Diaz, Samantha E Parker, Marlene Anderka, Martha M Werler, Allen A Mitchell
BACKGROUND: We assessed associations between first-trimester metformin use for pregestational diabetes and specific major birth defects. METHODS: We compared risks associated with first-trimester metformin use by diabetic women to nondiabetic women on no diabetes medication; we calculated crude odds ratios by exact logistic regression and adjusted by inverse probability weighting. Confounding by diabetes was assessed by comparing risks for metformin-exposed diabetic women to those for insulin-exposed diabetics and nondiabetics treated with metformin for subfertililty...
April 17, 2018: Birth Defects Research
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