Carolina Putotto, Marco Masci, Monia Magliozzi, Antonio Novelli, Bruno Marino, Maria Cristina Digilio, Alessandra Toscano
Background
A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
Case Report
We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
Conclusion
The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.
{"title":"Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report","authors":"Carolina Putotto, Marco Masci, Monia Magliozzi, Antonio Novelli, Bruno Marino, Maria Cristina Digilio, Alessandra Toscano","doi":"10.1002/bdr2.2382","DOIUrl":"10.1002/bdr2.2382","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, <i>GDF1</i> and <i>NOTCH1</i>, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141554173","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}
Mahdieh Parvan, Masoumeh Nozari, Mohammad Shabani, Hojat Nozari, Kristi Anne Kohlmeier, Somayeh Mohammadi
Background
Autism spectrum disorder (ASD) is the fastest-growing child neuropsychiatric condition. Cognitive dysfunctions such as memory impairments are experienced by patients along with social disturbances and repetitive/stereotypic movements. We have used the radial arm maze (RAM), for measurement of working and reference memory errors in an animal model of autism. In addition, the potential effects of agmatine, an endogenous NMDA antagonist, on RAM performance and autistic-like behaviors were assessed.
Methods
Autism was modeled by valproic acid (VPA) administration at gestational Day 12.5. Autism-associated behaviors in male offspring were examined in an open field test (OFT) and three-chambered test (TCT) on postnatal days 50–51. Thereafter, the animals were trained in the RAM (PND 55) until they attained the criteria of 80% correct choices during five consecutive trials. Forty-eight hours after the acquisition of criteria, agmatine was injected 30 min before subsequent behavioral testing, which included the retention phase of the RAM, OFT, and TCT.
Results
VPA-treated and intact rats showed the same performance in RAM, and acute injection of agmatine rescued social and anxiety-like behavior induced by VPA without the effect on RAM.
Conclusion
In a rat model of autism, spatial learning, and memory did not change. Agmatine rescued social and anxiety-like behavior in autistic animals.
{"title":"Effects of agmatine on radial-arm maze memory performance and autistic-like behaviors in a male rat model of autism","authors":"Mahdieh Parvan, Masoumeh Nozari, Mohammad Shabani, Hojat Nozari, Kristi Anne Kohlmeier, Somayeh Mohammadi","doi":"10.1002/bdr2.2379","DOIUrl":"10.1002/bdr2.2379","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Autism spectrum disorder (ASD) is the fastest-growing child neuropsychiatric condition. Cognitive dysfunctions such as memory impairments are experienced by patients along with social disturbances and repetitive/stereotypic movements. We have used the radial arm maze (RAM), for measurement of working and reference memory errors in an animal model of autism. In addition, the potential effects of agmatine, an endogenous NMDA antagonist, on RAM performance and autistic-like behaviors were assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Autism was modeled by valproic acid (VPA) administration at gestational Day 12.5. Autism-associated behaviors in male offspring were examined in an open field test (OFT) and three-chambered test (TCT) on postnatal days 50–51. Thereafter, the animals were trained in the RAM (PND 55) until they attained the criteria of 80% correct choices during five consecutive trials. Forty-eight hours after the acquisition of criteria, agmatine was injected 30 min before subsequent behavioral testing, which included the retention phase of the RAM, OFT, and TCT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>VPA-treated and intact rats showed the same performance in RAM, and acute injection of agmatine rescued social and anxiety-like behavior induced by VPA without the effect on RAM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In a rat model of autism, spatial learning, and memory did not change. Agmatine rescued social and anxiety-like behavior in autistic animals.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141490870","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}
Raya Vinogradov, Annie Muthupunnackal, Malcolm Moffat, Judith Rankin
Background
Gastroschisis is a congenital anomaly of the umbilical ring with increasing prevalence, especially amongst younger mothers. There is increasing evidence that exposure to genitourinary infections (GUTI) may play an important role in the etiology of gastroschisis. This systematic review and meta-analysis aimed to identify, appraise, and summarize the literature on exposure to GUTI and gastroschisis.
Methods
Six electronic databases (MEDLINE, EMBASE, Web of Science, Scopus, Cochrane Library electronic databases, and Prospero) were searched using a comprehensive search strategy. Citations and cited articles for all included studies were searched. Peer-reviewed, quantitative studies reporting an association of urinary tract infections (UTI) and/or sexually transmitted infections (STI) with gastroschisis were included. Prospero registration CRD42022377420.
Results
A total of 2392 papers were identified via the searches of which 15 met our inclusion criteria and were included after title and abstract and full text screening. The study period for included studies ranged from 1995 to 2016, most were from the USA. Four studies considering exposure to STIs and five to UTIs were eligible to progress to meta-analysis. Meta-analysis identified a significantly increased risk of gastroschisis in association with periconceptional exposure to UTI [OR 1.54 (95% CI 1.29, 1.8)], STI [OR 1.4 (95% CI 1.01, 1.79)].
Conclusions
Periconceptional exposure to GUTI is associated with an increased risk of gastroschisis. The prevention and timely treatment of GUTI amongst women of childbearing age may help to reduce the occurrence of gastroschisis.
{"title":"Genitourinary infection and gastroschisis: A systematic review and meta-analysis","authors":"Raya Vinogradov, Annie Muthupunnackal, Malcolm Moffat, Judith Rankin","doi":"10.1002/bdr2.2377","DOIUrl":"10.1002/bdr2.2377","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Gastroschisis is a congenital anomaly of the umbilical ring with increasing prevalence, especially amongst younger mothers. There is increasing evidence that exposure to genitourinary infections (GUTI) may play an important role in the etiology of gastroschisis. This systematic review and meta-analysis aimed to identify, appraise, and summarize the literature on exposure to GUTI and gastroschisis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Six electronic databases (MEDLINE, EMBASE, Web of Science, Scopus, Cochrane Library electronic databases, and Prospero) were searched using a comprehensive search strategy. Citations and cited articles for all included studies were searched. Peer-reviewed, quantitative studies reporting an association of urinary tract infections (UTI) and/or sexually transmitted infections (STI) with gastroschisis were included. Prospero registration CRD42022377420.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 2392 papers were identified via the searches of which 15 met our inclusion criteria and were included after title and abstract and full text screening. The study period for included studies ranged from 1995 to 2016, most were from the USA. Four studies considering exposure to STIs and five to UTIs were eligible to progress to meta-analysis. Meta-analysis identified a significantly increased risk of gastroschisis in association with periconceptional exposure to UTI [OR 1.54 (95% CI 1.29, 1.8)], STI [OR 1.4 (95% CI 1.01, 1.79)].</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Periconceptional exposure to GUTI is associated with an increased risk of gastroschisis. The prevention and timely treatment of GUTI amongst women of childbearing age may help to reduce the occurrence of gastroschisis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2377","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466178","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}
On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, “Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification.” The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030.
Methods
This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations.
Results
WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership.
Conclusion
The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.
{"title":"World health assembly resolution for preventing micronutrient deficiencies and associated neural tube defects—A case study of global partnerships for a successful resolution adoption","authors":"Vijaya Kancherla","doi":"10.1002/bdr2.2375","DOIUrl":"10.1002/bdr2.2375","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>On May 29, 2023, the 76th World Health Assembly (WHA) unanimously adopted the resolution entitled, “Accelerating efforts for preventing micronutrient deficiencies and their consequences, including spina bifida and other neural tube defects, through safe and effective food fortification.” The Society for Birth Defects Research and Prevention published their resolution in 2015 supporting mandatory fortification of staple foods with folic acid and recommendations aiming to achieve global total prevention of folate-sensitive spina bifida and anencephaly, setting a goal to achieve by the year 2024. The WHA resolution provides another global push for the cause, with recommendations to member nations for food fortification to be achieved by the year 2030.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This short communication documents the steps, from inception up to the passage, of the 76th WHA resolution on food fortification, with a narrative on the nature of strategic advocacy efforts by multiple governmental and nongovernmental organizations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>WHA resolutions can take many years to be introduced and passed by the assembly; however, this is a case study of the swiftness of the process enabled by powerful global partnership.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The documentation of this process serves as an example for developing and processing future WHA resolutions aiming to improve global maternal and child health.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455250","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}
Latefa Ali Dardas, Iyad Al-Ammouri, Sami Sweis, Ahmad Eid, Mohammad Abid, Wei Pan
Background
This study investigates how congenital heart diseases (CHD) characteristics and interventions affect cognitive and verbal skills in Arab children, while also uncovering previously unexplored connections between these skills and the quality of life (QoL) scores as perceived by both children and parents.
Methods
A cross-sectional study was conducted in Jordan, involving 62 children with CHD aged 6–16. Data were collected through standardized intelligence tests (namely The Raven's Progressive Matrices Test and The Wechsler Intelligence Scale for Children) and QoL assessments.
Results
Sex, disease severity, cyanosis, CHD defect status, conducted operations, and types of interventions did not significantly influence cognitive scores. However, a significant difference was observed in Wechsler's scores between cyanotic and non-cyanotic children (p < .01) and between severe and moderate cases (p = .01). Further, a significant positive correlation was identified between Wechsler's Scores and QoL reported by parents (r = 0.33, p < .01). This correlation was particularly pronounced in the social and school functioning dimensions of QoL.
Conclusions
This study highlights the need for personalized care approaches for children with CHDs based on their individual characteristics. While cognitive abilities did not directly correlate with children's QoL reports, a significant positive correlation between verbal skills and QoL reported by parents underscores the importance of effective communication in assessing a child's overall well-being. Future research should further examine the cognitive development in this population, employing neurocognitive investigations and longitudinal studies to gain a deeper understanding of their cognitive profiles and trajectories.
背景：本研究探讨了先天性心脏病（CHD）的特点和干预措施如何影响阿拉伯儿童的认知和语言能力，同时还揭示了这些能力与儿童和家长认为的生活质量（QoL）得分之间以前未曾探讨过的联系：在约旦进行了一项横断面研究，涉及 62 名 6-16 岁患有先天性心脏病的儿童。数据通过标准化智力测验（即瑞文渐进矩阵测验和韦氏儿童智力量表）和 QoL 评估收集：结果：性别、疾病严重程度、发绀、先天性心脏病缺陷状况、进行过的手术和干预类型对认知评分没有显著影响。然而，发绀儿童与非发绀儿童的韦氏评分存在明显差异（p 结论：该研究强调了个性化治疗的必要性：本研究强调了根据患有先天性心脏病的儿童的个体特征采取个性化护理方法的必要性。虽然认知能力与儿童的 QoL 报告没有直接相关性，但言语能力与家长报告的 QoL 之间存在显著的正相关性，这强调了有效沟通在评估儿童整体福祉中的重要性。未来的研究应通过神经认知调查和纵向研究来进一步考察这一人群的认知发展，从而更深入地了解他们的认知概况和发展轨迹。
{"title":"Beyond the heart: Cognitive and verbal outcomes in Arab children with congenital heart diseases","authors":"Latefa Ali Dardas, Iyad Al-Ammouri, Sami Sweis, Ahmad Eid, Mohammad Abid, Wei Pan","doi":"10.1002/bdr2.2374","DOIUrl":"10.1002/bdr2.2374","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study investigates how congenital heart diseases (CHD) characteristics and interventions affect cognitive and verbal skills in Arab children, while also uncovering previously unexplored connections between these skills and the quality of life (QoL) scores as perceived by both children and parents.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional study was conducted in Jordan, involving 62 children with CHD aged 6–16. Data were collected through standardized intelligence tests (namely The Raven's Progressive Matrices Test and The Wechsler Intelligence Scale for Children) and QoL assessments.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sex, disease severity, cyanosis, CHD defect status, conducted operations, and types of interventions did not significantly influence cognitive scores. However, a significant difference was observed in Wechsler's scores between cyanotic and non-cyanotic children (<i>p</i> < .01) and between severe and moderate cases (<i>p</i> = .01). Further, a significant positive correlation was identified between Wechsler's Scores and QoL reported by parents (<i>r</i> = 0.33, <i>p</i> < .01). This correlation was particularly pronounced in the social and school functioning dimensions of QoL.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study highlights the need for personalized care approaches for children with CHDs based on their individual characteristics. While cognitive abilities did not directly correlate with children's QoL reports, a significant positive correlation between verbal skills and QoL reported by parents underscores the importance of effective communication in assessing a child's overall well-being. Future research should further examine the cognitive development in this population, employing neurocognitive investigations and longitudinal studies to gain a deeper understanding of their cognitive profiles and trajectories.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455249","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}
V. Kancherla, A. Rhoads, K. M. Conway, J. Suhl, P. H. Langlois, A. T. Hoyt, G. M. Shaw, S. P. Evans, C. A. Moore, T. J. Luben, A. Michalski, M. L. Feldkamp, P. A. Romitti, the National Birth Defects Prevention Study
Background
Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification.
Methods
Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000–2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied.
Results
Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8–1.5 for all NTDs combined, 0.6–2.0 for spina bifida, and 0.7–1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7–1.1, 0.5–1.5, and 0.6–1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null.
Conclusions
Using community- and individual-level data from a large, US, population-based, case–control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.
{"title":"Maternal periconceptional exposure to drinking water disinfection by-products and neural tube defects in offspring","authors":"V. Kancherla, A. Rhoads, K. M. Conway, J. Suhl, P. H. Langlois, A. T. Hoyt, G. M. Shaw, S. P. Evans, C. A. Moore, T. J. Luben, A. Michalski, M. L. Feldkamp, P. A. Romitti, the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2370","DOIUrl":"10.1002/bdr2.2370","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Associations between maternal periconceptional exposure to disinfection by-products (DBPs) in drinking water and neural tube defects (NTDs) in offspring are inconclusive, limited in part by exposure misclassification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Maternal interview reports of drinking water sources and consumption from the National Birth Defects Prevention Study were linked with DBP concentrations in public water system monitoring data for case children with an NTD and control children delivered during 2000–2005. DBPs analyzed were total trihalomethanes, the five most common haloacetic acids combined, and individual species. Associations were estimated for all NTDs combined and selected subtypes (spina bifida, anencephaly) with maternal periconceptional exposure to DBPs in public water systems and with average daily periconceptional ingestion of DBPs accounting for individual-level consumption and filtration information. Mixed effects logistic regression models with maternal race/ethnicity and educational attainment at delivery as fixed effects and study site as a random intercept were applied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, 111 case and 649 control children were eligible for analyses. Adjusted odds ratios for maternal exposure to DBPs in public water systems ranged from 0.8–1.5 for all NTDs combined, 0.6–2.0 for spina bifida, and 0.7–1.9 for anencephaly; respective ranges for average daily maternal ingestion of DBPs were 0.7–1.1, 0.5–1.5, and 0.6–1.8. Several positive estimates (≥1.2) were observed, but all confidence intervals included the null.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Using community- and individual-level data from a large, US, population-based, case–control study, we observed statistically nonsignificant associations between maternal periconceptional exposure to total and individual DBP species in drinking water and NTDs and subtypes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2370","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141417739","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}
Ayse Cigdem Bayrak, Erdem Fadiloglu, Umutcan Kayikci, Edip Alptug Kir, Murat Cagan, Ozgur Deren
Objective
This retrospective study aimed to investigate how congenital heart disease (CHD) affects early neonatal outcomes by comparing Apgar scores and umbilical cord blood gas parameters between fetuses with structural cardiac anomalies and healthy controls. Additionally, within the CHD group, the study explored the relationship between these parameters and mortality within six months.
Methods
Data from 68 cases of prenatally diagnosed CHD were collected from electronic medical records, excluding cases with missing data or additional comorbidities. Only patients delivered by elective cesarean section, without any attempt at labor, were analyzed to avoid potential confounding factors. A control group of 147 healthy newborns was matched for delivery route, maternal age, and gestational week. Apgar scores at 1, 5, and 10 minutes, as well as umbilical cord blood pH, base deficit, and lactate levels, were recorded.
Results
Maternal age, gestational week at delivery, and birth weight were similar between the CHD and control groups. While Apgar score distribution was significantly lower at 1st, 5th, and 10th minutes in the CHD group, umbilical cord blood gas parameters did not show significant differences between groups. Within the CHD group, lower umbilical cord blood pH and larger base deficit were associated with mortality within six months.
Conclusion
Newborns with CHD exhibit lower Apgar scores compared to healthy controls, suggesting potential early neonatal challenges. Furthermore, umbilical cord blood pH and base deficit may serve as predictors of mortality within six months in CHD cases. Prospective studies are warranted to validate these findings and integrate them into clinical practice, acknowledging the study's retrospective design and limitations.
{"title":"Comparison of Apgar scores and cord blood gas parameters in fetuses with isolated congenital heart disease and healthy controls","authors":"Ayse Cigdem Bayrak, Erdem Fadiloglu, Umutcan Kayikci, Edip Alptug Kir, Murat Cagan, Ozgur Deren","doi":"10.1002/bdr2.2371","DOIUrl":"10.1002/bdr2.2371","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This retrospective study aimed to investigate how congenital heart disease (CHD) affects early neonatal outcomes by comparing Apgar scores and umbilical cord blood gas parameters between fetuses with structural cardiac anomalies and healthy controls. Additionally, within the CHD group, the study explored the relationship between these parameters and mortality within six months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 68 cases of prenatally diagnosed CHD were collected from electronic medical records, excluding cases with missing data or additional comorbidities. Only patients delivered by elective cesarean section, without any attempt at labor, were analyzed to avoid potential confounding factors. A control group of 147 healthy newborns was matched for delivery route, maternal age, and gestational week. Apgar scores at 1, 5, and 10 minutes, as well as umbilical cord blood pH, base deficit, and lactate levels, were recorded.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Maternal age, gestational week at delivery, and birth weight were similar between the CHD and control groups. While Apgar score distribution was significantly lower at 1st, 5th, and 10th minutes in the CHD group, umbilical cord blood gas parameters did not show significant differences between groups. Within the CHD group, lower umbilical cord blood pH and larger base deficit were associated with mortality within six months.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Newborns with CHD exhibit lower Apgar scores compared to healthy controls, suggesting potential early neonatal challenges. Furthermore, umbilical cord blood pH and base deficit may serve as predictors of mortality within six months in CHD cases. Prospective studies are warranted to validate these findings and integrate them into clinical practice, acknowledging the study's retrospective design and limitations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141320500","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}
Yujuan Su, Yujuan Yu, Junjun Quan, Junjie Zhang, Ying Xu
Background
Prenatal alcohol exposure (PAE) has been linked to congenital heart disease and fetal alcohol syndrome. The heart primarily relies on mitochondria to generate energy, so impaired mitochondrial function due to alcohol exposure can significantly affect cardiac development and function. Our study aimed to investigate the impact of PAE on myocardial and mitochondrial functions in offspring mice.
Methods
We administered 30% alcohol (3 g/kg) to pregnant C57BL/6 mice during the second trimester. We assessed cardiac function by transthoracic echocardiography, observed myocardial structure and fibrosis through staining tests and electron transmission microscopy, and detected cardiomyocyte apoptosis with dUTP nick end labeling assay and real-time quantitative PCR. Additionally, we measured the reactive oxygen species content, ATP level, and mitochondrial DNA copy number in myocardial mitochondria. Mitochondrial damage was evaluated by assessing the level of mitochondrial membrane potential and the opening degree of mitochondrial permeability transition pores.
Results
Our findings revealed that PAE caused cardiac systolic dysfunction, ventricular enlargement, thinned ventricular wall, cardiac fibrosis in the myocardium, scattered loss of cardiomyocytes, and disordered arrangement of myocardial myotomes in the offspring. Furthermore, we observed a significant increase in mitochondrial reactive oxygen species content, a decrease in mitochondrial membrane potential, ATP level, and mitochondrial DNA copy number, and sustained opening of mitochondrial permeability transition pores in the heart tissues of the offspring.
Conclusions
These results indicated that PAE had adverse effects on the cardiac structure and function of the newborn mice and could trigger oxidative stress in their myocardia and contribute to mitochondrial dysfunction.
{"title":"Alcohol exposure during pregnancy induces cardiac mitochondrial damage in offspring mice","authors":"Yujuan Su, Yujuan Yu, Junjun Quan, Junjie Zhang, Ying Xu","doi":"10.1002/bdr2.2369","DOIUrl":"10.1002/bdr2.2369","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Prenatal alcohol exposure (PAE) has been linked to congenital heart disease and fetal alcohol syndrome. The heart primarily relies on mitochondria to generate energy, so impaired mitochondrial function due to alcohol exposure can significantly affect cardiac development and function. Our study aimed to investigate the impact of PAE on myocardial and mitochondrial functions in offspring mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We administered 30% alcohol (3 g/kg) to pregnant C57BL/6 mice during the second trimester. We assessed cardiac function by transthoracic echocardiography, observed myocardial structure and fibrosis through staining tests and electron transmission microscopy, and detected cardiomyocyte apoptosis with dUTP nick end labeling assay and real-time quantitative PCR. Additionally, we measured the reactive oxygen species content, ATP level, and mitochondrial DNA copy number in myocardial mitochondria. Mitochondrial damage was evaluated by assessing the level of mitochondrial membrane potential and the opening degree of mitochondrial permeability transition pores.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our findings revealed that PAE caused cardiac systolic dysfunction, ventricular enlargement, thinned ventricular wall, cardiac fibrosis in the myocardium, scattered loss of cardiomyocytes, and disordered arrangement of myocardial myotomes in the offspring. Furthermore, we observed a significant increase in mitochondrial reactive oxygen species content, a decrease in mitochondrial membrane potential, ATP level, and mitochondrial DNA copy number, and sustained opening of mitochondrial permeability transition pores in the heart tissues of the offspring.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results indicated that PAE had adverse effects on the cardiac structure and function of the newborn mice and could trigger oxidative stress in their myocardia and contribute to mitochondrial dysfunction.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141320499","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}
Cakmak Genc, G., Yilmaz, B., Karakas Celik, S., Aydemir, C., Eroz, R., & Dursun, A. (2024). Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. Birth Defects Research, 116(5), e2346. https://doi.org/10.1002/bdr2.2346
In the originally published article, the title was Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome. The correct title is Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. This has been updated in the online version of the article.
We apologize for this error.
Cakmak Genc, G., Yilmaz, B., Karakas Celik, S., Aydemir, C., Eroz, R., & Dursun, A. (2024)。小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告。出生缺陷研究》，116（5），e2346。https://doi.org/10.1002/bdr2.2346In，最初发表的文章标题为《小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告》：奈梅亨断裂综合征病例报告》。正确的标题是：小头畸形新生儿的辐射敏感性：奈梅亨断裂综合征病例报告。我们对这一错误表示歉意。
{"title":"Correction to “Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome”","authors":"","doi":"10.1002/bdr2.2373","DOIUrl":"10.1002/bdr2.2373","url":null,"abstract":"<p>Cakmak Genc, G., Yilmaz, B., Karakas Celik, S., Aydemir, C., Eroz, R., & Dursun, A. (2024). Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. <i>Birth Defects Research</i>, 116(5), e2346. https://doi.org/10.1002/bdr2.2346</p><p>In the originally published article, the title was Radiosensitivity in a newborn with microcephalia: A case report of Nijmegen breakage syndrome. The correct title is Radiosensitivity in a newborn with microcephaly: A case report of Nijmegen breakage syndrome. This has been updated in the online version of the article.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2373","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141315957","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}
Marwa M. Ebrahim, Mai H. El-Dakdoky, Sara Hatem El-Shafiey, Amany S. Amer
Background
Nanoplastics can be considered a novel contaminant for the environment because of their extensive applications in modern society, which represents a possible threat to humans. Nevertheless, the negative effect of polystyrene nanoplastics (PS-NPs) on male reproduction, fertility, and progeny outcomes is not well known. Thus, the aim of the present work was to calculate the median lethal dose (LD50) and investigate the consequences of exposure to PS-NPs (25 nm) on male reproductive toxicity.
Methods
This investigation first determined the LD50 of PS-NPs in male Wistar rats, and then in a formal study, 24 rats were distributed into three groups (n = 8): the control group; the low-dose group (3 mg/kg bw); and the high-dose group (10 mg/kg bw) of PS-NPs administered orally for 60 days. On the 50th day of administration, the fertility test was conducted.
Results
The LD50 was determined to be 2500 mg/kg. PS-NP administration induced significant alternations, mainly indicating mortality in the high-dose group, a significant elevation in body weight gain, declined sperm quality parameters, altered reproductive hormonal levels, thyroid endocrine disruption, an alternation of the normal histo-architecture and the histo-morphometric analysis of the testes, and impaired male fertility.
Conclusion
Altogether, the current findings provide novel perspectives on PS-NP general toxicity with specific reference to male reproductive toxicity.
{"title":"Oral exposure to polystyrene nanoplastics altered the hypothalamic–pituitary–testicular axis role in hormonal regulation, inducing reproductive toxicity in albino rats","authors":"Marwa M. Ebrahim, Mai H. El-Dakdoky, Sara Hatem El-Shafiey, Amany S. Amer","doi":"10.1002/bdr2.2368","DOIUrl":"10.1002/bdr2.2368","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Nanoplastics can be considered a novel contaminant for the environment because of their extensive applications in modern society, which represents a possible threat to humans. Nevertheless, the negative effect of polystyrene nanoplastics (PS-NPs) on male reproduction, fertility, and progeny outcomes is not well known. Thus, the aim of the present work was to calculate the median lethal dose (LD50) and investigate the consequences of exposure to PS-NPs (25 nm) on male reproductive toxicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This investigation first determined the LD50 of PS-NPs in male Wistar rats, and then in a formal study, 24 rats were distributed into three groups (<i>n</i> = 8): the control group; the low-dose group (3 mg/kg bw); and the high-dose group (10 mg/kg bw) of PS-NPs administered orally for 60 days. On the 50<sup>th</sup> day of administration, the fertility test was conducted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The LD50 was determined to be 2500 mg/kg. PS-NP administration induced significant alternations, mainly indicating mortality in the high-dose group, a significant elevation in body weight gain, declined sperm quality parameters, altered reproductive hormonal levels, thyroid endocrine disruption, an alternation of the normal histo-architecture and the histo-morphometric analysis of the testes, and impaired male fertility.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Altogether, the current findings provide novel perspectives on PS-NP general toxicity with specific reference to male reproductive toxicity.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 6","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141315959","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号