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Birth Defects Research

Boris Groisman, Pablo Barbero, Pierpaolo Mastroiacovo, Lorenzo D Botto, María Paz Bidondo, Rosa Liascovich
BACKGROUND: In Argentina, birth defects are a leading cause of infant deaths. In 2009, the National Network for Congenital Anomalies of Argentina (RENAC) was established as a hospital-based surveillance system of major structural birth defects. To assess and enhance the system's data quality, we previously developed data quality indicators (DQI). Our aim was to evaluate quality indicators in RENAC. METHODS: We applied the DQI presented in a related publication to the 2016 RENAC data...
February 13, 2019: Birth Defects Research
Boris Groisman, Pierpaolo Mastroiacovo, Pablo Barbero, María Paz Bidondo, Rosa Liascovich, Lorenzo D Botto
BACKGROUND: Quality control and improvement are a key part of the implementation of an effective surveillance program. Data quality indicators (DQI) are key tools but have not been widely used, especially in a low-resource setting. METHODS: We developed a list of data quality indicators of birth defects surveillance. These DQI address ascertainment, description, coding, and classification. RESULTS: We developed 40 DQI that can be used widely to assess the quality of data relative to birth defects of major clinical and public health impact...
February 11, 2019: Birth Defects Research
Michiko Watanabe
No abstract text is available yet for this article.
February 11, 2019: Birth Defects Research
Robert E Seegmiller, Cameron Foster, Jared L Burnham
BACKGROUND: The mutant chondrodysplasia (cho) is a cartilage-targeting disorder in C57BL mice that results in dwarfing and other malformations stemming from this collagenopathy. Clarke Fraser made the discovery of the mutation accidentally in the early 1960s during the thalidomide tragedy. METHODS: For this review we identified key research on cho as since its discovery. Relevant data were compiled to make a comprehensive review that details discoveries associated with the cho mutation, that describes the associated phenotypes and molecular mechanisms, and that provides a discussion surrounding its current clinical relevance...
February 4, 2019: Birth Defects Research
Lauren R Doyle, Claire D Coles, Julie A Kable, Philip A May, Elizabeth R Sowell, Kenneth L Jones, Edward P Riley, Sarah N Mattson
BACKGROUND: Adaptive function and general intellectual function are two important and often correlated domains. While youth with prenatal alcohol exposure frequently demonstrate impairments in both domains, it is not clear whether the relation between these domains is consistent across levels of ability or whether, for example, adaptive function is less affected by intellectual function at higher ability levels. The aim of the current study was to test this relation in youth with and without prenatal alcohol exposure...
February 4, 2019: Birth Defects Research
Kristal A Rychlik, Fenna C M Sillé
In human studies, it is well established that exposures during embryonic and fetal development periods can influence immune health. Coupled with genetic predisposition, these exposures can alter lifetime chronic and infectious disease trajectory, and, ultimately, life expectancy. Fortunately, as research advances, mechanisms governing long-term effects of prenatal exposures are coming to light and providing the opportunity for intervention and risk reduction. For instance, human association studies have provided a foundation for the association of prenatal exposure to particulate matter with early immunosuppression and later allergic disease in the offspring...
February 1, 2019: Birth Defects Research
Alaaddin Yorulmaz, Murat Konak
BACKGROUND: Additional congenital anomalies have often been found in patients with neural tube defect (NTD). We aimed to find out the clinical features, short term prognosis, treatment approaches, and systemic anomalies of NTD patients in the Konya region. METHOD: A total of 186 newborn babies with NTD were retrospectively included in the study and all were assessed in detail for congenital anomalies and clinical features. RESULTS: When the application month of the patients was examined, it was seen that the most frequent month was July...
February 1, 2019: Birth Defects Research
Lisa M Pence, Thomas C Schmitt, Richard D Beger, Pedro L Del Valle, Noriko Nakamura
BACKGROUND: Previously, we evaluated optimal organ culture conditions to produce elongated spermatids in an in vitro mouse testis culture system. However, differences in testicular function between the cultured testis fragments and animal testis have not been determined. METHODS: To examine how closely cultured testis fragments in vitro approximates what typically occurs during the first wave of spermatogenesis in vivo, C57BL/6J mouse testis fragments obtained on postnatal day (PND) 5 were cultured in AlbuMAX™ I/ α-Minimal Essential Medium for 15, 23, 30, 35, 42, and 49 days, and compared to mouse testes obtained at PND 5, 14, 20, 24, 28, 30, 35, and 40...
January 31, 2019: Birth Defects Research
Lucas Sagrillo-Fagundes, Josianne Bienvenue-Pariseault, Patrick Legembre, Cathy Vaillancourt
The prototype death receptor CD95 (Fas) and its ligand, CD95L (FasL), have been thoroughly studied due to their role in immune homeostasis and elimination of infected and transformed cells. The fact that CD95 is present in female reproductive cells and modulated during embryogenesis and pregnancy has raised interest in its role in immune tolerance to the fetoplacental unit. CD95 has been shown to be critical for proper embryonic formation and survival. Moreover, altered expression of CD95 or its ligand causes autoimmunity and has also been directly involved in recurrent pregnancy losses and pregnancy disorders...
January 31, 2019: Birth Defects Research
Joseph O'Neill, Mary J O'Connor, Victor Yee, Ronald Ly, Katherine Narr, Jeffrey R Alger, Jennifer G Levitt
BACKGROUND: Attention deficit-hyperactivity disorder (ADHD) is common in fetal alcohol spectrum disorders (FASD) but also in patients without prenatal alcohol exposure (PAE). Many patients diagnosed with idiopathic ADHD may actually have ADHD and covert PAE, a treatment-relevant distinction. METHODS: We compared proton magnetic resonance spectroscopic imaging (MRSI; N = 44) and diffusion tensor imaging (DTI; N = 46) of the anterior corona radiata (ACR)-a key fiber tract in models of ADHD-at 1...
January 29, 2019: Birth Defects Research
Kunj R Sheth, Erin Kovar, Jeffrey T White, Tiffany M Chambers, Erin C Peckham-Gregory, Marisol O'Neill, Peter H Langlois, Abhishek Seth, Michael E Scheurer, Philip J Lupo, Carolina J Jorgez
BACKGROUND: With the increasing birth prevalence of hypospadias, there is growing concern for pollutant exposure interfering with normal penile development. We assess the association between hypospadias and hormonally active hazardous air pollutants (HAHAPs) through a nationwide database of hazardous air pollutants and the Texas Birth Defects Registry (TBDR). METHODS: Using the TBDR, we identified 8,981 nonsyndromic isolated hypospadias cases from 1999 to 2008. Birth certificate controls were matched for birth year at a 10:1 ratio to cases...
January 29, 2019: Birth Defects Research
Catherine A Lebel, Carly A McMorris, Preeti Kar, Chantel Ritter, Quinn Andre, Christina Tortorelli, W Ben Gibbard
BACKGROUND: Prenatal and postnatal adversities, including prenatal alcohol exposure (PAE), prenatal exposure to other substances, toxic stress, lack of adequate resources, and postnatal abuse or neglect, often co-occur. These exposures can have cumulative effects, or interact with each other, leading to worse outcomes than single exposures. However, given their complexity and heterogeneity, exposures can be difficult to characterize. Clinical services and research often overlook additional exposures and attribute outcomes solely to one factor...
January 28, 2019: Birth Defects Research
Gary M Shaw, Wei Yang
BACKGROUND: A recent study observed women's restricted carbohydrate diet in the year before conception was associated with increased risk of neural tube defect (NTD)-affected pregnancies. That study corresponded to the era of postfortification of folic acid. Because folic acid and carbohydrate measures would derive from similar foods, investigators of that study could not determine whether the increased risk with restricted carbohydrate intake was a consequence of lower folate intake...
January 25, 2019: Birth Defects Research
Mary J O'Connor, Larissa C Portnoff, Michael Lebsack-Coleman, Katrina M Dipple
BACKGROUND: The teratogenic effects of prenatal alcohol exposure (PAE) have been extensively documented over the course of 45 years of research and psychiatric problems are pervasive in this population. In adults with PAE, suicidal risk is high but less is known about the suicidal risk in adolescents with fetal alcohol spectrum disorders (FASD). This study describes the prevalence of suicidal ideation and serious suicide attempts in a sample of 54 adolescents between the ages of 13 and 18 years with FASD...
January 24, 2019: Birth Defects Research
Helen E Ritchie, Carolina Telenius, Elin Gustaffson, William S Webster
BACKGROUND: When the human heart begins its earliest contractions from day 21, it lacks a functional autonomic nerve supply. Instead, contractions are generated by regular calcium transients later augmented by the funny current (If ) produced by sinoatrial-like cells. This study examined effects of blocking these currents in the early rat embryonic heart. METHODS: Rat embryos were incubated in vitro with either the calcium channel blocker nifedipine and/or the funny current (If ) blocker ivabradine for 1 hr to examine the effects of these drugs on the activity of the embryonic heart...
January 17, 2019: Birth Defects Research
Oswald Boa-Amponsem, Chengjin Zhang, Somnath Mukhopadhyay, Iman Ardrey, Gregory J Cole
BACKGROUND: Recent work suggests that endocannabinoids (eCBs) may signal through the sonic hedgehog signaling pathway. We therefore hypothesized that combined ethanol and eCB exposure during defined stages of zebrafish embryogenesis will produce deficits comparable to human fetal alcohol spectrum disorder (FASD). METHODS: Zebrafish embryos were exposed to ethanol or cannabinoid agonists alone or in combination at defined developmental stages and assessed for changes in brain morphology or expression of marker genes such as pax6a...
January 16, 2019: Birth Defects Research
Gopakumar Gopalakrishnan, Shivaputhrappa Ganiger, Tacey E K White, Chungping Yu
No abstract text is available yet for this article.
January 11, 2019: Birth Defects Research
Kim Newsome, C J Alverson, Jennifer Williams, Anne F McIntyre, Anne D Fine, Cathy Wasserman, Kathryn H Lofy, Meileen Acosta, Janice K Louie, Kathleen Jones-Vessey, Valoree Stanfield, Alice Yeung, Sonja A Rasmussen
BACKGROUND: Pregnant women with influenza are more likely to have complications, but information on infant outcomes is limited. METHODS: Five state/local health departments collected data on outcomes of infants born to pregnant women with 2009 H1N1 influenza reported to the Centers for Disease Control and Prevention from April to December 2009. Collaborating sites linked information on pregnant women with confirmed 2009 H1N1 influenza, many who were severely ill, to their infants' birth certificates...
January 9, 2019: Birth Defects Research
Nathalie Auger, Laura Arbour, Adeline Kabageni, Jessica Healy-Profitós, Aimina Ayoub, William D Fraser
BACKGROUND: The relationship between childhood asthma and central nervous system defects in offspring is poorly understood. We assessed if childhood asthma was associated with the risk of having an infant with neural tube or other nervous system defects compared with asthma during pregnancy. METHODS: We analyzed a longitudinal cohort of 128,060 women who were 5 years or less at study entry and later delivered an infant in Quebec, Canada (1989-2014). We identified women hospitalized for asthma before pregnancy, including childhood and adolescence, and determined if asthma was present during pregnancy based on obstetric records...
January 8, 2019: Birth Defects Research
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