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Birth Defects Research

Jitao Zhang, Raksha Raghunathan, Justin Rippy, Chen Wu, Richard H Finnell, Kirill V Larin, Giuliano Scarcelli
BACKGROUND: Embryonic development involves the interplay of driving forces that shape the tissue and the mechanical resistance that the tissue offers in response. While increasing evidence has suggested the crucial role of physical mechanisms underlying embryo development, tissue biomechanics is not well understood because of the lack of techniques that can quantify the stiffness of tissue in situ with 3D high-resolution and in a noncontact manner. METHODS: We used two all-optical techniques, optical coherence tomography (OCT) and Brillouin microscopy, to map the longitudinal modulus of the tissue from mouse embryos in situ...
September 21, 2018: Birth Defects Research
Meredith M Howley, Kim M Keppler-Noreuil, Christopher M Cunniff, Marilyn L Browne
BACKGROUND: Cerebellar hypoplasia is a rare disorder of cerebellar formation in which the cerebellum is not completely developed, smaller than it should be, or completely absent. The prevalence of cerebellar hypoplasia at birth is unknown, and little is known about epidemiological risk factors. Using data from the National Birth Defects Prevention Study (NBDPS), a population-based, case-control study, we analyzed clinical features and potential risk factors for nonsyndromic cerebellar hypoplasia...
September 19, 2018: Birth Defects Research
Gopakumar Gopalakrishnan, Shivaputhrappa Ganiger, Tacey E K White, Chungping Yu
BACKGROUND: An extended-release molindone (a dopamine D2 and serotonin antagonist) is currently being developed as a novel treatment for impulsive aggression (IA) in patients optimally treated for ADHD. Oral Good Laboratory Practice reproductive toxicology studies (fertility and early embryonic [FEE], prenatal/postnatal [PPN], embryo-fetal development [EFD]) were conducted with molindone HCl using International Conference on Harmonisation (ICH) S5(R2)-compliant protocols. METHODS: In the FEE study, 0, 5, 15, or 30 mg kg-1  day-1 was administered to female (2 weeks premating through implantation) and male (4 weeks premating for 57 days) rats, and fertility parameters were evaluated...
September 19, 2018: Birth Defects Research
Ekanem N Ekure, Nnenna Kalu, Ogochukwu J Sokunbi, Paul Kruszka, Akinsanya D Olusegun-Joseph, Desmond Ikebudu, David Bala, Maximilian Muenke, Adebowale Adeyemo
BACKGROUND: Congenital heart diseases (CHDs) affect ~1% of newborns and are a significant cause of morbidity and mortality in children. We present the clinical epidemiology of CHD as seen in a large university medical center in Nigeria. METHODS: Participants were 767 children with echocardiographically confirmed CHD seen over a 5-year period at the Lagos University Teaching Hospital, Nigeria. RESULTS: Clinical presentation was often late with just over half (58...
September 19, 2018: Birth Defects Research
Rodrigo Papa Gobbi, Gladis Magnarelli, María Gabriela Rovedatti
BACKGROUND: Two different mitochondrial fractions (MFs) have been characterized in the human placenta: the "light" and "heavy" fractions (LMF and HMF). Although these organelles are the main source of reactive oxygen species, an imbalance between their production and the rate of detoxification represents a serious threat to mitochondrial homeostasis and, in the case of the placenta, also to the fetus. The aim of this study was to evaluate the antioxidant capacity and susceptibility to oxidative stress in both types of MFs...
September 19, 2018: Birth Defects Research
Marlene Anderka, Cara T Mai, Emily M Judson, Peter H Langlois, Philip J Lupo, Kimberlea Hauser, Jason L Salemi, Jane Correia, Mark A Canfield, Russell S Kirby
BACKGROUND: The 2016 Zika public health response in the United States highlighted the need for birth defect surveillance (BDS) programs to collect population-based data on birth defects potentially related to Zika as rapidly as possible through enhanced case ascertainment and reporting. The National Birth Defects Prevention Network (NBDPN) assessed BDS program activities in the United States before and after the Zika response. METHODS: The NBDPN surveyed 54 BDS programs regarding activities before and after the Zika response, lessons learned, and programmatic needs...
September 19, 2018: Birth Defects Research
Rute Vieira, Rachel Pearse, Judith Rankin
BACKGROUND: Congenital diaphragmatic hernia (CDH) is a malformation of the diaphragm accounting for 8% of all major congenital anomalies. Although many clinical factors of survival in children with CDH have been established, limited research exists on the role of sociodemographic and other factors. We aimed to systematically identify and summarize all available international literature, published from January 2000 to July 2017, evaluating specific mortality factors for children with prenatally diagnosed, isolated, left-sided CDH...
September 10, 2018: Birth Defects Research
Katharine Dunbar Winsor, Melody E Morton Ninomiya
OBJECTIVES: In this paper, we provide an overview of best practices in FASD prevention, diagnostic, and interventions and supports. In Canada, people diagnosed with Fetal Alcohol Spectrum Disorder (FASD) represent a fraction people living with FASD. While social stigma may deter people from seeking an FASD diagnosis, other deterrents include the lack of screening and diagnostic referrals, cost of travelling to a clinic, and lack of clarity of how a diagnosis may improve supports and services...
September 10, 2018: Birth Defects Research
Charles Shumate, Adrienne Hoyt, Charles Liu, Aja Kleinert, Mark Canfield
BACKGROUND: This is the first study to utilize the index of concentration at the extremes (ICE) to examine risk factors for spina bifida in Texas. The ICE is a useful measure for providing the degree to which residents in a certain area are concentrated into groups at the extremes of disadvantage and privilege. We introduce two novel ICE measures (language and nativity), and three existing ICE measures (race/ethnicity, income, and education), which we applied specifically to Texas residents...
September 10, 2018: Birth Defects Research
Baoling Bai, Qin Zhang, Chunlei Wan, Dan Li, Ting Zhang, Huili Li
BACKGROUND: Maternal diabetes related neural tube defects (NTDs) are a result of oxidative stress and apoptosis. However, the molecular mechanism behind the pathogenesis is not fully understood. Here, we report that high glucose exposure-induced epigenetic changes influence histone H4 acetylation and neuroepithelial cell proliferation. We also show that the acetyltransferase inhibitor C646 can prevent high glucose induced changes in histone H4 acetylation and neuroepithelial cell proliferation...
August 16, 2018: Birth Defects Research
ThuyQuynh N Do, Natalie Street, Jennifer Donnelly, Melissa M Adams, Christopher Cunniff, Deborah J Fox, Richard O Weinert, Joyce Oleszek, Paul A Romitti, Christina P Westfield, Julie Bolen
BACKGROUND: For 10 years, the Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet) conducted surveillance for Duchenne and Becker muscular dystrophy (DBMD). We piloted expanding surveillance to other MDs that vary in severity, onset, and sources of care. METHODS: Our retrospective surveillance included individuals diagnosed with one of nine eligible MDs before or during the study period (January 2007-December 2011), one or more health encounters, and residence in one of four U...
August 2, 2018: Birth Defects Research
Vijaya Kancherla, Ben Redpath, Godfrey P Oakley
BACKGROUND: There is an opportunity to reduce child mortality by preventing folic acid-preventable spina bifida and anencephaly (FAP SBA) in developing countries. We estimated reductions in FAP SBA-associated child mortality in 69 countries with an immediate potential for mandatory fortification of wheat flour. METHODS: Using data from multiple sources, we estimated the percent reductions in neonatal, infant, and under-five mortality that would have occurred by preventing FAP SBA; and the contributions of these reductions toward each country's Sustainable Development Goals (SDG) for child mortality reduction...
August 2, 2018: Birth Defects Research
Sandra A Reza-López, Edwin O Aguirre-Chacón, Blanca Sánchez-Ramírez, Fabiola Guerrero-Salgado, Dora V Chávez-Corral, Margarita Levario-Carrillo
BACKGROUND: Folate plays a fundamental role for fetal development, participating in cell division, embryogenesis, and fetal growth. The fetus depends on maternal supply of folate across the placenta. The objective of this study was to compare the expression of Folate Receptor-α (FR-α), Reduced Folate Carrier (RFC), and Proton Coupled Folate Transporter (PCFT) in placentas from pregnancies complicated with birth defects (BD) and controls. METHODS: Case-control study, including placentas of BD-complicated pregnancies (n = 25) and a control group (n = 25)...
July 31, 2018: Birth Defects Research
David R Hootnick, Neil Vargesson
Human lower limb congenital long bone deficiencies cluster primarily at three distinct skeletal locations. Proximal femoral and fibular reductions are known phenomena. In contrast, midline metatarsal deficiencies have been misrepresented as lateral. The popular term, "fibular hemimelia," is inaccurate and its use is discouraged. All three locations correspond to discrete sites of evolving angiogenesis during transition from a single embryonic axial limb artery to the familiar and complex adult arterial pattern...
September 1, 2018: Birth Defects Research
Veronica Arora, Anju Joshi, Meena Lall, Shruti Agarwal, Sunita Bijarnia Mahay, Ratna Dua Puri, Ishwar Chander Verma
No abstract text is available yet for this article.
September 1, 2018: Birth Defects Research
Akshay Kumar, Thomas G Davies, Nobue Itasaki
BACKGROUND: Naturally hypoxic conditions in amniote embryos play important roles in normal development. We previously showed that a hypoxic condition is required to produce a sufficient amount of neural crest cells (NCCs) during embryogenesis and that promoting a hypoxic response by prolyl-hydroxylase (PHD) inhibitors increases NCCs. Given that PHD inhibitors are considered as a potential treatment for anemia and ischemic diseases, we investigated the phenotypic effect of PHD inhibitors on embryonic development...
September 1, 2018: Birth Defects Research
John M DeSesso, Anthony R Scialli
Evaluation of the skeleton in laboratory animals is a standard component of developmental toxicology testing. Standard methods of performing the evaluation have been established, and modification of the evaluation using imaging technologies is under development. The embryology of the rodent, rabbit, and primate skeleton has been characterized in detail and summarized herein. The rich literature on variations and malformations in skeletal development that can occur in the offspring of normal animals and animals exposed to test articles in toxicology studies is reviewed...
September 1, 2018: Birth Defects Research
Silpita Paul, Susanta Sadhukhan, Dinesh Munian, Biswabandhu Bankura, Madhusudan Das
BACKGROUND: Worldwide, Neural tube defects (NTDs) are considered as major clinical problems imposing a huge socio-economic burden for both affected individuals and their families. In India, the prevalence of Neural tube defects is significantly high. This study aims to evaluate the association between genetic defects in folate metabolism pathway genes, mainly: Folate hydrolase 1 (FOLH1), Dihydrofolate reductase (DHFR) and Methylenetetrahydrofolate reductase (MTHFR) and neural tube defects from eastern India...
August 15, 2018: Birth Defects Research
Roumi Deb, Jyoti Arora, Ratika Samtani, Gaurav Garg, Deepti Saksena, Noopur Sharma, Aloke Kumar Kalla, Kallur Nava Saraswathy
PURPOSE: The present study attempts to understand the complex contribution of biochemical (plasma homocysteine) and nutritional parameters (dietary pattern and folate supplementation) to the neural tube defects (NTDs) affected pregnancies and controls in North Indian population. METHODS: Case-control study design was adopted to assess the role of folic acid, dietary habits, and homocysteine in relation to NTD births. The subjects comprised of 130 mothers of affected children (cases) and 233 mothers of healthy children (controls), who were either carrying NTD fetus or gave birth to NTD child...
August 15, 2018: Birth Defects Research
Rema Ramakrishnan, Jason L Salemi, Amy L Stuart, Henian Chen, Kathleen O'Rourke, Sarah Obican, Russell S Kirby
OBJECTIVE: To identify the live-birth prevalence, trends, correlates, and neonatal and 1-year survival rates of congenital diaphragmatic hernia. METHODS: Using a population-based, retrospective cohort study design, we examined 1,025 cases of congenital diaphragmatic hernia from the 1998-2012 Florida Birth Defects Registry. We used Poisson and joinpoint regression models to compute prevalence ratios and temporal trends, respectively. Kaplan-Meier survival curves and Cox proportional hazards regression were used to describe neonatal and 1-year survival and estimate hazard ratios representing the predictors of infant survival...
August 15, 2018: Birth defects research
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