Birth Defects Research最新文献

{"title":"Embryonic Vascular Dysgenesis: The Origin of Proximal Femoral Focal Deficiency","authors":"David R. Hootnick,&nbsp;Neil Vargesson,&nbsp;Jason A. Horton,&nbsp;Jiri Chomiak","doi":"10.1002/bdr2.2465","DOIUrl":"https://doi.org/10.1002/bdr2.2465","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Proximal Femoral Focal Deficiency (PFFD) is the most proximal manifestation of a syndrome involving Congenitally Shortened lower Limbs (CSL), which also affects the fibula and midline metatarsals. This pattern of congenital human long bone deficiencies corresponds, in a time dependent manner, to the failed ingrowth pathways of new blood vessels of the growing embryonic limb. The distal femoral condyles are, in contrast, served by an alternative vascular supply from around the knee joint, and so remain resistant to the CSL deficiency.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>We hypothesize that embryonic vascular dysgenesis causes PFFD, as well as the cardinal features of the Femoral, Fibular and midline Metatarsal deficiencies (FFM) syndrome.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Arteriography of CSL with PFFD reveals diminution or failed formation of the Femoral Artery (FA), which corresponds to downstream skeletal reductions. It may also reveal preservation of the primitive Axial Artery (AA) of the embryonic limb. The combination of missing and retained primitive vessels inform the time, place, and nature of the etiologic vascular events. This suggests that PFFD is the visible expression of a normally prefigured cartilaginous scaffold of the femur, which develops in conformity with the available pattern of blood vessels present. The teratogen thalidomide, known to affect the forming embryonic vasculature, also produces PFFD indistinguishable from the naturally occurring entity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The entire spectrum of PFFD, including phocomelia, fibular, and metatarsal dystrophisms, should thus be regarded as downstream skeletal results of embryonic arterial dysgeneses.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143786714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postnatal Effects of Prenatal Exposure to Periodontitis in Wistar Rat Pups","authors":"Camila Salvador Sestario,&nbsp;Eduardo Inocente Jussiani,&nbsp;Avacir Casanova Andrello,&nbsp;Caio Cezar Nantes Martins,&nbsp;Aline Campos Zeffa,&nbsp;Viviane de Fátima Mestre,&nbsp;Solange de Paula Ramos,&nbsp;Maria José Sparça Salles","doi":"10.1002/bdr2.2468","DOIUrl":"https://doi.org/10.1002/bdr2.2468","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Periodontitis during pregnancy is associated with preterm births and low birth weight. This study evaluated how experimental periodontitis induced in female rats impacts the physical development, motor skills, and dental and maxillary development of their pups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>Pregnant Wistar rats were divided into the control group (C, <i>n</i> = 12) and the induced periodontal disease group (P, <i>n</i> = 12). Periodontitis was induced in the first maxillary molars 14 days before mating. Delivery occurred on the 21st day of gestation, and four offspring from each litter were evaluated (<i>n</i> = 48) for 30 days to verify physical and reflexological development. The first molars and alveolar bone were evaluated in 30-day-old animals using X-ray microtomography and histopathological analysis. Differences between groups were considered significant if <i>p</i> &lt; 0.05.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The P group had a lower number of live offspring (9.4 ± 1.9 pups) than the C group (11.4 ± 2.1, <i>p</i> = 0.03). The P offspring group showed lower weight (F = 1.17; <i>p</i> &lt; 0.0001) and length (F = 3.47; <i>p</i> &lt; 0.0001), as well as delayed hair growth (<i>p</i> = 0.01) and eruption of incisors (<i>p</i> = 0.001). The P offspring presented a delay in the motor development of postural straightening (<i>p</i> = 0.01), adult gait (<i>p</i> = 0.01), and negative geotaxis (<i>p</i> = 0.01). No developmental anomalies were observed in the maxillary first molars; however, the P group showed a decreased number (<i>p</i> = 0.02) and increased distance (<i>p</i> = 0.007) between the maxillary bone trabeculae.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Periodontitis delayed physical and reflexological development and impaired maxillary bone quality in offspring.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143762246","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pesticide Exposure in Agricultural Workplaces and Resultant Health Effects in Women","authors":"Shashi Nandar Kumar,&nbsp;Nawaid Hussain Khan,&nbsp;Yousra Reda,&nbsp;Haroon Habib Beigh,&nbsp;Banajit Bastia,&nbsp;Kumar Vaibhav,&nbsp;Arun Kumar Jain,&nbsp;Sheikh Raisuddin","doi":"10.1002/bdr2.2460","DOIUrl":"https://doi.org/10.1002/bdr2.2460","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Numerous occupational studies have highlighted the risk of cancer associated with agricultural practices and exposure to agrochemicals in males and females in the workplace. Women working in tea plantations/gardens often face educational, health, and socioeconomic challenges. They may be particularly vulnerable to the pesticide exposure owing to a lack of health awareness and education, other limitations and environmental and occupational factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Aims</h3>\u0000 \u0000 <p>The objective of the review was to highlight the problem of pesticide exposure in women working in tea plantations/gardens through a comprehensive appraisal of published literature.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>Literature searches were performed using a range of keywords such as pesticide exposure to women, adverse birth outcomes, tea plantations/gardens, placental outcomes, cancer, and so forth using online search engines, including PubMed, Web of Science, Google Scholar, and so on.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This review reports that women are frequently exposed to pesticides during tea leaf plucking activities in tea plantations/gardens, which may lead to adverse pregnancy outcomes and may result in altered function of the placenta, fetal growth restrictions, low birth weight (LBW) of babies, and sex-specific differences in the fetal development. These adverse effects may pose a potential risk of poor health, type 2 diabetes mellitus, and congenital birth defects leading to neurobehavioral disorders in childhood, and even cancer later in life.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The adverse effects of pesticide exposure on pregnancy and the fetus in tea plantation workers were explained through the available epidemiological data and animal studies. The mechanism of toxicity due to pesticide exposure during pregnancy may involve the disruption of signaling pathway, leading to placental toxicity, and restricted fetal development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Considering limited epidemiological, biomonitoring, and pathological data on pesticide exposure in women working in tea plantations/gardens, there is an urgent need for well-designed cohort studies to delineate its consequences on reproductive health, pregnancy outcomes, and adverse effects in offspring.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143749718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Integrated Transcriptomic and Metabolomic Profiling of the Placenta in a Dexamethasone-Induced Cleft Palate Rabbit Model","authors":"Lanling Lin,&nbsp;Mianxing Wei,&nbsp;Xiao Luo,&nbsp;Chong Zhang,&nbsp;Bingshuai Jing,&nbsp;Jue Wang,&nbsp;Bing Shi,&nbsp;Meng Gong,&nbsp;Chenghao Li","doi":"10.1002/bdr2.2467","DOIUrl":"https://doi.org/10.1002/bdr2.2467","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cleft palate is a congenital malformation influenced by both genetic and environmental factors. Although environmental contributors have been extensively studied, the placenta—an essential organ that mediates maternal–fetal interactions and offers protection against environmental insults—remains poorly understood in this context. This study aimed to explore transcriptomic and metabolomic alterations in the placenta following maternal exposure to corticosteroids, using a dexamethasone-induced cleft palate rabbit model.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Untargeted metabolomics and transcriptomics analyses were conducted on placental and amniotic fluid samples from fetuses with and without dexamethasone-induced cleft palate. Histopathological examination was performed to assess structural abnormalities in the placenta.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The cleft palate group exhibited marked placental pathologies, including fibrosis, calcification, and necrosis. Transcriptomic analysis identified 4744 differentially expressed genes, enriched in pathways related to hormone signaling, vascular development, and inflammation. Metabolomic profiling revealed significant changes in both placenta and amniotic fluid, especially in the urea cycle, aspartate metabolism, and nicotinate and nicotinamide metabolism. The urea cycle was particularly disrupted in the cleft palate group.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>These findings reveal a strong association between placental structural and functional abnormalities and cleft palate formation in the dexamethasone-induced model, offering novel insights into the potential role of the placenta in cleft palate pathogenesis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143726888","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Examining the Neurodevelopmental Impact of Sonic Hedgehog Pathway Inhibition in Mice","authors":"Tyler G. Beames,&nbsp;Megan Y. Stewart,&nbsp;Rachel B. Walkup,&nbsp;Jules B. Panksepp,&nbsp;Robert J. Lipinski","doi":"10.1002/bdr2.2466","DOIUrl":"https://doi.org/10.1002/bdr2.2466","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neurodevelopmental disorders (NDDs) are common, highly variable, and etiologically complex. Identifying environmental factors that adversely impact prenatal brain development is a direct path to NDD prevention. Small molecule disruption of the Sonic hedgehog (Shh) signaling pathway, a key regulator of craniofacial morphogenesis, can lead to overt face and forebrain malformations that produce profound neurological deficits. However, whether environmental disruption of Shh signaling can cause subtle neurodevelopmental outcomes in the absence of overt facial malformations was unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We developed a dietary model of Shh signaling inhibition using the specific Shh pathway antagonist vismodegib. C57BL/6J mice were fed control chow or chow containing 25, 75, or 225 ppm vismodegib from gestational day (GD)4 through GD12 to target Shh signaling during craniofacial morphogenesis. Impacts of Shh pathway disruption on face and forebrain development were examined in exposed embryos and fetuses, and behavioral characteristics were assessed in adult mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Exposure to chow containing 225 ppm vismodegib resulted in abnormal forebrain patterning at GD11, face and brain malformations at GD17, and early postnatal mortality, while lower treatment groups appeared phenotypically normal. Adult mice exposed to 25 and 75 ppm vismodegib outperformed control mice on repeated rotarod sessions, but treated mice did not significantly differ from control animals in open field exploration, marble burying, olfactory discrimination and detection, or fear conditioning assays.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Under the examined conditions, prenatal Shh disruption did not produce robust neurobehavioral differences in the absence of craniofacial malformations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2466","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143707231","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cabergoline Use and Pregnancy Outcomes: A Systematic Review","authors":"Anne-Sophie Otis,&nbsp;Marie-Sophie Brochet,&nbsp;Zoë Tremblay,&nbsp;Jacques Balayla,&nbsp;Elias M. Dahdouh","doi":"10.1002/bdr2.2464","DOIUrl":"10.1002/bdr2.2464","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Lack of available expert guidelines leads clinicians to interrupt cabergoline treatment upon confirmation of pregnancy and consider switching to bromocriptine, which is more commonly used during pregnancy but is poorly tolerated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this review was to evaluate pregnancy outcomes, primarily major malformations and spontaneous abortions, after pregnancy exposure to cabergoline during the first trimester compared to pregnancy exposure to other comparators or no treatment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>An Embase, Pubmed, Google Scholar, and ClinicalTrials.gov search was performed. Full articles published before October 27, 2022, and evaluating the effect of cabergoline on major malformations and spontaneous abortions were considered for inclusion in the review. Search results were manually screened and selected by two independent reviewers.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Totally, 2186 records were identified. After removal of duplicates and screening of abstracts, 65 full-text articles were consulted. Thirty articles corresponded to our selection criteria and were included in the systematic review. This review identified 1662 pregnancies exposed to cabergoline. Most studies did not find an increased risk of congenital malformations or spontaneous abortions with cabergoline compared to other comparators or no treatment. Overall study quality was low, and there was high heterogeneity between studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This review revealed no negative impact on major malformations and spontaneous abortions of cabergoline use in pregnancy compared to other comparators or no treatment. However, additional high-quality studies are needed to further study the safety of cabergoline use during pregnancy.</p>\u0000 \u0000 <p><b>Trial Registration:</b> PROSPERO, CRD42021256219 (October 19, 2021)</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11926777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143669025","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Review: Hormone Pregnancy Tests Were Teratogenic by the Same Failed Abortion and Hypoxia-Related Mechanism as Misoprostol","authors":"Bengt R. Danielsson,&nbsp;Helen E. Ritchie","doi":"10.1002/bdr2.2462","DOIUrl":"https://doi.org/10.1002/bdr2.2462","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Hormone pregnancy tests (HPTs), containing synthetic progesterone and oestrogen, were used to diagnose pregnancy in the 1950s to early 1980s. An existing pregnancy was purported to be unaffected while expulsion of the uterine lining (withdrawal bleed) was supposed to occur if the woman was not pregnant. However, studies in the 1960s–1980s associated HPTs with teratogenicity and some countries banned their use in the early 1970s. Following renewed scientific and political interest, studies were published from 2014–2023.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Materials and Methods</h3>\u0000 \u0000 <p>This review evaluates whether HPTs fulfil scientific criteria to be teratogenic based on results in old and newer human, animal and mechanistic studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and Discussion</h3>\u0000 \u0000 <p>The evaluation shows that HPT teratogenicity is identical to the established human teratogen misoprostol, with limb reductions, neural tube defects and urinary-renal system defects as the most significant. The evaluation also presents evidence for abnormal uterine contractions and failed abortion (but the embryo survives) and hypoxia/ROS-related damage (including vascular disruption) in the embryo secondary to compression of uterine/embryonic vessels, as underlying the teratogenicity. Animal studies show human malformations associated with HPTs could be induced by a single period of embryonic hypoxia, and that HPTs have both abortive and teratogenic potential.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Altogether, HPTs fulfil criteria to be characterised as a human teratogen.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2462","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143622516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing Environmental Justice in Mexico: How Polluting Industries and Healthcare Disparities Impact Congenital Heart Defects","authors":"Maria Jose Talayero,&nbsp;Carlos Santos-Burgoa,&nbsp;Jordan Kuiper,&nbsp;Robert Canales,&nbsp;Andrea Gropman","doi":"10.1002/bdr2.2463","DOIUrl":"https://doi.org/10.1002/bdr2.2463","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital heart defects (CHDs) are the most prevalent birth defects globally and the second leading cause of death in Mexican children under five. This study examines how industrial activity and social vulnerabilities independently and jointly influence CHD incidence across 2446 Mexican municipalities from 2008 to 2019.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using negative binomial regression models, we evaluated associations between polluting industries, healthcare access, and CHD incidence. We analyzed these factors independently, jointly, and through interaction terms to assess potential effect modification by healthcare access. Incidence rate ratios (IRRs) and 95% confidence intervals were estimated across healthcare access strata.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Municipalities without healthcare facilities were more likely to host polluting industries, highlighting structural inequities. The presence of polluting industries was associated with increased CHD incidence, even after adjusting for healthcare access. For instance, municipalities with poor healthcare access and two or more polluting industries exhibited a 42% higher CHD incidence (IRR = 1.42, 95% CI: 1.25–1.60) compared to a 26% increase in municipalities with better healthcare access (IRR = 1.26, 95% CI: 1.02–1.57).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results show how environmental pollutant exposure and social vulnerabilities interact synergistically, disproportionately impacting socially vulnerable populations. Targeted policy interventions addressing both environmental pollution and healthcare inequities are crucial. Further research is also needed to clarify the mechanisms linking pollution to CHDs and to guide public health strategies aimed at reducing these disparities in Mexico.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143602745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Subdivided Historical Data to Assess Replicability of the Rat Embryo-Fetal Developmental Toxicity Study","authors":"L. David Wise","doi":"10.1002/bdr2.2461","DOIUrl":"https://doi.org/10.1002/bdr2.2461","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>A key aspect of scientific reliability includes replicability, that is, obtaining consistent results when an experiment is repeated. In embryo-fetal developmental toxicity (EFDT) studies, replicability can be assessed using in vitro models, targeted in vivo studies, and/or the second species study. This work assesses the replicability of whole-animal studies using historic rat data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data for two endpoints from five full studies were downloaded from the National Toxicology Program (NTP) website. Each full group was divided into two replicate sets (based on odd/even and top/bottom animal order) to evaluate within-study replicability. Analyses included summary statistics, scatter plots, a modified Levene's test for homogeneity of variances, and Cohen's <i>d</i> to assess effect sizes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Replicate means deviated from the original study by only 0.4%–3.7% and differed by ≤ 7% between replicates (with differences &lt; 5% in 87% of groups). Coefficients of variation (CV%) were generally consistent across subgroups, with few above 10%. Variance testing revealed significant differences in two of the five studies, and one study exhibited opposite fetal weight effects in the odd/even subgroup only. Evaluations of adjusted maternal weight gain were comparable across subgroups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The observed 5%–7% differences between these idealized replicates may represent the lower bound for acceptable variability when merging replicate data sets. This work lays the groundwork for more robust evaluations of replicability in EFDT studies and may inform future regulatory guidance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143581818","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine Learning and Natural Language Processing to Improve Classification of Atrial Septal Defects in Electronic Health Records","authors":"Yuting Guo,&nbsp;Haoming Shi,&nbsp;Wendy M. Book,&nbsp;Lindsey Carrie Ivey,&nbsp;Fred H. Rodriguez III,&nbsp;Reza Sameni,&nbsp;Cheryl Raskind-Hood,&nbsp;Chad Robichaux,&nbsp;Karrie F. Downing,&nbsp;Abeed Sarker","doi":"10.1002/bdr2.2451","DOIUrl":"https://doi.org/10.1002/bdr2.2451","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>International Classification of Disease (ICD) codes can accurately identify patients with certain congenital heart defects (CHDs). In ICD-defined CHD data sets, the code for secundum atrial septal defect (ASD) is the most common, but it has a low positive predictive value for CHD, potentially resulting in the drawing of erroneous conclusions from such data sets. Methods with reduced false positive rates for CHD among individuals captured with the ASD ICD code are needed for public health surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We propose a two-level classification system, which includes a CHD and an ASD classification model, to categorize cases with an ASD ICD code into three groups: ASD, other CHD, or no CHD (including patent foramen ovale). In the proposed approach, a machine learning model that leverages structured data is combined with a text classification system. We compare performances for three text classification strategies: support vector machines (SVMs) using text-based features, a robustly optimized Transformer-based model (RoBERTa), and a scalable tree boosting system using non-text-based features (XGBoost).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Using SVM for both CHD and ASD resulted in the best performance for the ASD and no CHD group, achieving <i>F</i>₁ scores of 0.53 (±0.05) and 0.78 (±0.02), respectively. XGBoost for CHD and SVM for ASD classification performed best for the other CHD group (<i>F</i>₁ score: 0.39 [±0.03]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrates that it is feasible to use patients' clinical notes and machine learning to perform more fine-grained classification compared to ICD codes, particularly with higher PPV for CHD. The proposed approach can improve CHD surveillance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143535832","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}