Birth Defects Research最新文献

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Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12 在印度,由于叶酸和维生素B12水平不足,食品强化在预防神经管缺陷方面无效
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-28 DOI: 10.1002/bdr2.2498
Vijaya Kancherla, Parveen Bhalla, Subrata Kumar Dutta, Rajesh Mehta, Ravindra M. Vora, Santosh Karmarkar
{"title":"Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12","authors":"Vijaya Kancherla,&nbsp;Parveen Bhalla,&nbsp;Subrata Kumar Dutta,&nbsp;Rajesh Mehta,&nbsp;Ravindra M. Vora,&nbsp;Santosh Karmarkar","doi":"10.1002/bdr2.2498","DOIUrl":"https://doi.org/10.1002/bdr2.2498","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is a high prevalence of neural tube defects (NTDs) and nutritional anemias that increase the risk of birth defects in India. The current staple food fortification regulations for folic acid and vitamin B12 are ineffective in the country. We provide an evidence-based viewpoint urging for WHO-recommended levels of fortificants (i.e., 1300 mcg of folic acid and 10 mcg of vitamin B12 per kilogram of wheat flour or rice) to be included in the regulation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Micronutrient fortified foods are being distributed through various governmental safety-net programs under the National Food Security Act in India. Packaged flour produced by some private companies is fortified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Food fortification regulation, recommended in 2018 by the Food Safety and Standards Authority of India, allows adding 75–125 micrograms (mcg) of folic acid per kilogram (kg), and 0.75–1.25 mcg of vitamin B12 per kg, as fortificants in wheat flour or rice. These levels are 90% lower than what WHO recommends based on daily consumption of staple foods in India.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Re-setting fortification standards for folic acid and vitamin B12 to levels recommended by the WHO in India will avert thousands of NTD-associated pregnancies each year, as well as morbidity and mortality associated with them.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503109","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}
引用次数: 0
Adverse Events After COVID-19 Vaccination Between Pregnant and Nonpregnant Women 孕妇和非孕妇接种COVID-19疫苗后的不良事件
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-27 DOI: 10.1002/bdr2.2505
Hinpetch Daungsupawong, Viroj Wiwanitkit
{"title":"Adverse Events After COVID-19 Vaccination Between Pregnant and Nonpregnant Women","authors":"Hinpetch Daungsupawong,&nbsp;Viroj Wiwanitkit","doi":"10.1002/bdr2.2505","DOIUrl":"https://doi.org/10.1002/bdr2.2505","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144492761","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}
引用次数: 0
Assessing the Readability, Credibility, and Accuracy of Online Vaccine Information for Pregnant and Lactating Individuals: A Cross-Platform Analysis 评估孕妇和哺乳期个体在线疫苗信息的可读性、可信度和准确性:一项跨平台分析
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-27 DOI: 10.1002/bdr2.2500
Ayhan Ceri
{"title":"Assessing the Readability, Credibility, and Accuracy of Online Vaccine Information for Pregnant and Lactating Individuals: A Cross-Platform Analysis","authors":"Ayhan Ceri","doi":"10.1002/bdr2.2500","DOIUrl":"https://doi.org/10.1002/bdr2.2500","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pregnant and lactating individuals frequently rely on online sources for vaccine information. However, the readability, credibility, and accuracy of such content vary widely, potentially influencing vaccine hesitancy. This study evaluates the accessibility and reliability of online vaccine information across different digital platforms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional content analysis was conducted on vaccine-related content published between 2018 and 2022. Data were collected from official health websites (e.g., WHO, CDC), social media (Twitter, Facebook), blogs, and parenting forums. Readability was assessed using the Flesch–Kincaid (FK) and SMOG indices, while credibility was evaluated using the DISCERN tool and HONcode certification. Accuracy was determined by comparing claims against scientific evidence from authoritative health organizations. Statistical analyses, including one-way ANOVA and chi-square tests, were performed to examine readability differences and misinformation prevalence across platforms.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Official health websites had the highest readability complexity (average FK grade level: 11.8 ± 1.2), while social media content was the most accessible (average FK grade level: 7.8 ± 1.0). However, social media also exhibited the highest misinformation prevalence (38%), whereas official sources maintained near-perfect accuracy (98% compliance with scientific evidence). Blogs and forums demonstrated moderate readability (FK grade level: 9.5 ± 1.4 and 8.7 ± 1.1, respectively) but varied in credibility (DISCERN scores: 40–50/80). Thematic analysis revealed dominant misinformation trends, including fear-based narratives (52% of misinformation cases) and scientific distortions (29%). Accessibility barriers were also identified, with only 10% of sources providing multilingual content, and disparities in digital health resources were observed between high- and low-income regions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study highlights the trade-off between readability and credibility in online vaccine information. While official sources provide reliable content, their complexity may hinder comprehension. Addressing accessibility gaps through plain-language communication and misinformation mitigation strategies is crucial for improving digital health literacy and supporting informed maternal vaccine decision-making.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144492762","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}
引用次数: 0
Synthesizing Cohort Study Results to Promote Knowledge Transfer of Safety Data Regarding Gestational Antidepressant Exposure and Offspring Congenital Anomalies: A Test of Concept 综合队列研究结果促进妊娠期抗抑郁药物暴露和后代先天性异常安全数据的知识转移:概念检验
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2496
Eydie L. Moses-Kolko, Loreen Straub, Kelly Fung, Krista F. Huybrechts
{"title":"Synthesizing Cohort Study Results to Promote Knowledge Transfer of Safety Data Regarding Gestational Antidepressant Exposure and Offspring Congenital Anomalies: A Test of Concept","authors":"Eydie L. Moses-Kolko,&nbsp;Loreen Straub,&nbsp;Kelly Fung,&nbsp;Krista F. Huybrechts","doi":"10.1002/bdr2.2496","DOIUrl":"https://doi.org/10.1002/bdr2.2496","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Health practitioners tend to overestimate potential risks to pregnancy from antidepressant (AD) exposure. Through a literature review focused on major congenital anomalies (MCA) and cardiac anomalies (CA) in association with gestational AD exposure, we evaluated the strength of the available evidence and explored ways to facilitate communication of the evidence to providers and patients.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In PubMed, we searched English language publications, from January 2013 to March 2024, using search terms for ADs and MCA to identify cohort studies that took steps to minimize confounding and misclassification bias. We extracted study relative risks (RR) for the association between ADs and anomalies. We meta-analyzed the RR and developed a fact box to streamline risk communication.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 1308 articles identified, 111 were retained after abstract review, of which 13 met our inclusion criteria. The pooled RR values for any AD were 1.06 (95% CI: 1.00–1.13) for MCA and 1.10 (95% CI: 1.01–1.19) for CA. Results were similar when focusing on individual AD drug classes. Risks were depicted on the absolute scale using an icon array in a fact box.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Reassuring quantitative data regarding prenatal AD exposure and the risk of MCA/CA are buried within a large corpus of publications. The fact box provides a quantitative, visual, and verbal description of absolute risks, based on pooled estimates from cohort studies which took steps to minimize bias. Further study is needed to examine the potential for fact boxes to increase clinician knowledge, clinician confidence to engage in risk discussions with patients, and patient understanding of the risk data.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2496","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367328","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}
引用次数: 0
Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis 比较叶酸干预和砷减少策略神经管缺陷预防在孟加拉国:系统回顾和决策分析
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2494
Chih-Fu Wei, Ernani F. Choma, Xingyan Wang, Carrie G. Wade, Ya Luan Hsiao, Diane Bao, Sudipta K. Mukherjee, David C. Christiani, Marc G. Weisskopf, Liming Liang, Maitreyi Mazumdar
{"title":"Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis","authors":"Chih-Fu Wei,&nbsp;Ernani F. Choma,&nbsp;Xingyan Wang,&nbsp;Carrie G. Wade,&nbsp;Ya Luan Hsiao,&nbsp;Diane Bao,&nbsp;Sudipta K. Mukherjee,&nbsp;David C. Christiani,&nbsp;Marc G. Weisskopf,&nbsp;Liming Liang,&nbsp;Maitreyi Mazumdar","doi":"10.1002/bdr2.2494","DOIUrl":"https://doi.org/10.1002/bdr2.2494","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Maternal intake of folic acid prevents most cases of neural tube defects (NTDs), and arsenic exposure may increase NTD risk. In Bangladesh, where arsenic exposures are high, understanding the potential impacts of arsenic reduction and folic acid-based interventions can guide decision-making.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a systematic review and meta-analysis to estimate the prevalence of NTDs in Bangladesh. We searched PubMed, Embase, Web of Science, Global Health, and Bangladesh Journals Online and extracted data using standardized forms. We used forest plots and random effects models to estimate the prevalence of all NTDs and spina bifida. Decision analysis used assumptions from the literature to compare expected NTD prevalence under strategies incorporating combinations of folic acid supplementation, fortification, and arsenic filters. Sensitivity analyses aimed to quantify the influence of adherence to supplements on estimates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eleven studies were included. Prevalences of NTD and spina bifida were 27.4 and 11.2 per 10,000 births, respectively; however, when estimated from population red blood cell folate concentrations, NTD prevalence was higher in both high arsenic exposure (drinking water ≥ 50 μg/L) and lower arsenic exposure groups (34.3 and 25.3 per 10,000 births, respectively). Folic acid fortification reduced the prevalence of NTDs to 11.1 and 9.1 per 10,000 births among high exposure and low exposure groups, respectively. Arsenic filters provided little marginal benefit. Benefits of supplements equaled those of fortification when adherence to supplements exceeded 90%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Bangladesh has high rates of NTDs and high arsenic exposures. Folic acid fortification is projected to be the most effective strategy for NTD prevention.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2494","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367329","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}
引用次数: 0
Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort 散发性和家族性小耳聋的听力损失概况:来自厄瓜多尔队列的临床见解
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2501
Fabricio González-Andrade, Fausto Coello, Edwin Andrade, Henry Vásconez
{"title":"Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort","authors":"Fabricio González-Andrade,&nbsp;Fausto Coello,&nbsp;Edwin Andrade,&nbsp;Henry Vásconez","doi":"10.1002/bdr2.2501","DOIUrl":"https://doi.org/10.1002/bdr2.2501","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right-ear predominance and conductive hearing loss are well-documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A cross-sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure-tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi-square tests (<i>p</i> &lt; 0.05).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Right-ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Microtia is most commonly right-sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource-limited settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144367616","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}
引用次数: 0
Correction to “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health” 对“早期生活公平:促进环境正义促进孕产妇和儿童健康”的更正
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-20 DOI: 10.1002/bdr2.2495
{"title":"Correction to “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health”","authors":"","doi":"10.1002/bdr2.2495","DOIUrl":"https://doi.org/10.1002/bdr2.2495","url":null,"abstract":"<p>Ceri, A., and M. D. Keskin. 2025. “Equity in Early Life: Advancing Environmental Justice for Maternal and Child Health.” <i>Birth Defects Research</i> 117: e2448. https://doi.org/10.1002/bdr2.2448.</p><p>In the originally published article, author Doğukan Mustafa Keskin's name was incorrectly given as Dogukan Keskin.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2495","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144323590","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}
引用次数: 0
Climate Change and Pregnancy Outcomes: A Systematic Approach to Reviewing the Data 气候变化与妊娠结局:一种系统的数据回顾方法
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-16 DOI: 10.1002/bdr2.2493
Caroline B. Braun, Sonja A. Rasmussen, Denise J. Jamieson
{"title":"Climate Change and Pregnancy Outcomes: A Systematic Approach to Reviewing the Data","authors":"Caroline B. Braun,&nbsp;Sonja A. Rasmussen,&nbsp;Denise J. Jamieson","doi":"10.1002/bdr2.2493","DOIUrl":"https://doi.org/10.1002/bdr2.2493","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Increasing evidence is accumulating regarding the effects of climate change on human health. In 2021, the World Health Organization (WHO) identified six exposure pathways through which climate change might affect health: extreme weather events; heat stress; air quality; food safety and security; water quality and quantity; and vector distribution and ecology. We sought to evaluate the climate change-related effects through these pathways on the health of pregnant persons and neonates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Individual PubMed searches were tailored for each WHO climate change exposure pathway based on the quality and quantity of evidence. Searches for heat stress, air quality, food safety and security, and vector distribution and ecology included systematic reviews only, while those for the remaining exposure pathways included broader quantitative study parameters.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Evidence links heat stress, air quality, and vector distribution and ecology to several adverse maternal and neonatal outcomes. While evidence regarding extreme weather events, food safety and security, and water quality and quantity also shows harmful effects on pregnant persons and neonates, the data are less conclusive.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Climate change-related effects detrimentally affect the health of pregnant persons and neonates, but additional research is required to improve understanding of how climate change exerts its effects on these populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144292631","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}
引用次数: 0
Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders 与先天性异常和神经发育迟缓相关的新的PAN2基因错义变异:扩大PAN2相关疾病的表型和突变谱
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-10 DOI: 10.1002/bdr2.2491
Özgür Çoğulu, Durdugül Ayyıldız Emecen, Tahir Atik, Esra Işık, Asude Durmaz, Ayça Aykut, Ferda Özkınay
{"title":"Novel Missense Variant in the PAN2 Gene Associated With Congenital Anomalies and Neurodevelopmental Delay: Expanding the Phenotypic and Mutational Spectrum of PAN2-Related Disorders","authors":"Özgür Çoğulu,&nbsp;Durdugül Ayyıldız Emecen,&nbsp;Tahir Atik,&nbsp;Esra Işık,&nbsp;Asude Durmaz,&nbsp;Ayça Aykut,&nbsp;Ferda Özkınay","doi":"10.1002/bdr2.2491","DOIUrl":"https://doi.org/10.1002/bdr2.2491","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The PAN2 gene encodes a subunit of a deadenylation complex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>In this study, we aimed to evaluate the homozygous missense variant detected in the PAN2 gene through whole-exome sequencing analysis in a case with multiple congenital anomalies and neuromotor developmental delay. A 4.5-year-old boy was referred to the pediatric genetics clinic due to multiple congenital anomalies and developmental delay. Due to the inability to determine a preliminary diagnosis with clinical and laboratory findings, whole-exome sequencing was performed on the index case. A novel homozygous missense variant, c.3026T&gt;A (p.Val1009Asp), in the PAN2 (NM_014871.5) gene was detected. The variant was classified as “likely pathogenic” according to the ACMG 2015 criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Recently, biallelic loss-of-function mutations in the PAN2 gene have been identified in several patients with congenital anomalies and neurodevelopmental disorders. In this case, a missense variant in the PAN2 gene is reported as disease-causing for the first time in the literature.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 6","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144244706","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}
引用次数: 0
Comparison of Perceived Adverse Events After COVID-19 Vaccination Between Pregnant and NonPregnant Women Using Two Cohort Studies in the Netherlands 使用荷兰的两项队列研究比较孕妇和非孕妇接种COVID-19疫苗后感知的不良事件
IF 1.6 4区 医学
Birth Defects Research Pub Date : 2025-06-06 DOI: 10.1002/bdr2.2490
Petra J. Woestenberg, Annika W. Terpstra, Florence van Hunsel, Thomas Lieber, Veronique Y. F. Maas
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