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Observed Prevalence of Congenital Situs Inversus in the United States Before and During the SARS-CoV-2 Pandemic, 2017–2022 2017-2022年SARS-CoV-2大流行之前和期间在美国观察到的先天性倒位患病率
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-12 DOI: 10.1002/bdr2.2424
Janet D. Cragan, Sook-Ja Cho, Nina Forestieri, Michele Hort, Eirini Nestoridi, Cynthia A. Moore, Erin Stallings, Elizabeth B. Gray, Jennita Reefhuis

Background

Reports from China describe an increase in the frequency of fetal situs inversus in 2023 after the country's “zero-Covid” policy was lifted, suggesting an association with maternal SARS-CoV-2 infection. However, a report of birth defects surveillance data from Scandinavia observed no sustained increase during the SARS-CoV-2 pandemic (2020–2022 vs. 2018–2019). We examined birth defects surveillance data to assess any increase in situs inversus in the U.S. during the SARS-CoV-2 pandemic.

Methods

We combined data from four population-based birth defects programs in Massachusetts, Minnesota, North Carolina, and Atlanta, Georgia, to compare the prevalence of situs inversus among infants and fetuses delivered before (2017–2019) and during (2021–2022) the SARS-CoV-2 pandemic. We defined situs inversus as mirror-image transposition of the heart and/or other organs, or primary ciliary dyskinesis with situs inversus, excluding isolated dextrocardia. The programs varied in the pregnancy outcomes included (live births ± non-live births); all included both prenatal and postnatal diagnoses.

Results

We identified 294 infants and fetuses with situs inversus (6.8% non-live births). We estimated the combined prevalence per 10,000 live births as 1.72 during the pandemic versus 1.71 before the pandemic (OR = 1.005; 95% CI: 0.778–1.297). The estimated annual prevalence ranged from 1.41 in 2017 to 2.21 in 2019 with no significant trend across the study period (p = 0.39).

Conclusions

We did not observe an increase in situs inversus during the SARS-CoV-2 pandemic. Because information about SARS-CoV-2 infection among individual pregnancies was not available from all programs, we could not assess a specific association with maternal infection.

背景:来自中国的报告称,在中国取消“零冠”政策后,2023年胎儿体位倒置的频率有所增加,这表明与母体感染SARS-CoV-2有关。然而,一份来自斯堪的纳维亚半岛的出生缺陷监测数据报告显示,在SARS-CoV-2大流行期间(2020-2022年vs. 2018-2019年),出生缺陷没有持续增加。我们检查了出生缺陷监测数据,以评估在SARS-CoV-2大流行期间与美国相比,出生缺陷的情况是否有所增加。方法:我们结合了马萨诸塞州、明尼苏达州、北卡罗来纳州和佐治亚州亚特兰大四个基于人群的出生缺陷项目的数据,比较了SARS-CoV-2大流行之前(2017-2019年)和期间(2021-2022年)出生的婴儿和胎儿的反位患病率。我们将倒位定义为心脏和/或其他器官的镜像转位,或原发性睫状体运动障碍伴倒位,不包括孤立性右心。这些项目在妊娠结局方面有所不同(活产±非活产);所有这些都包括产前和产后诊断。结果:我们发现294例婴儿和胎儿有倒位(6.8%是非活产)。我们估计,大流行期间每1万例活产的总患病率为1.72,而大流行前为1.71 (OR = 1.005;95% ci: 0.778-1.297)。估计年患病率从2017年的1.41到2019年的2.21不等,在整个研究期间没有显著的趋势(p = 0.39)。结论:与SARS-CoV-2大流行期间相比,我们没有观察到反向位置的增加。由于没有从所有项目中获得有关个体妊娠中SARS-CoV-2感染的信息,因此我们无法评估与孕产妇感染的特定关联。
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引用次数: 0
Sirenomelia—Challenges and Treatment Approach in a Rare Case 一个罕见病例的挑战和治疗方法。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-12 DOI: 10.1002/bdr2.2425
Daria Sosińska, Andrzej Gołębiewski, Piotr Czauderna

Introduction

Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins.

Case Report

We present a case of a boy born in 38th week of gestation (hebdomas graviditatis—HBD) with diagnosed sirenomelia, microcephaly, bilateral renal agenesis, duodenal atresia, imperforate anus, and agenesis of external genitalia. We provide a brief review of the literature and discussion concerning similar cases, determinants, pathogenesis and suspected genetic factors.

Conclusions

Due to accompanying malformations, there is often no treatment for sirenomelia. Avoidance of risk factors, early diagnosis, multidisciplinary approach and psychological preparation of parents to help them cope emotionally and mentally with the challenges, seem to be the key factors of management. It is very important to diagnose this condition by ultrasonography prenatally so that termination of pregnancy can be carried out.

简介:肢侧畸形是一种非常罕见的先天性结构异常,其特征是身体尾侧区域发育异常,伴有不同程度的下肢融合。大多数情况下,这种情况对婴儿来说是致命的。大多数婴儿即使在手术后也无法存活。50%的病例被视为死产,在同卵双胞胎中更为常见。病例报告:我们报告一例出生在妊娠第38周的男婴(妊娠hebdomas gravidatistis - hbd),诊断为先天性子宫裂、小头畸形、双侧肾发育不全、十二指肠闭锁、肛门闭锁和外生殖器发育不全。我们提供了一个简短的文献回顾和讨论有关类似的情况下,决定因素,发病机制和怀疑遗传因素。结论:由于伴发畸形,鼻臭症常常无法治疗。避免危险因素,早期诊断,多学科方法和家长的心理准备,帮助他们在情感上和精神上应对挑战,似乎是管理的关键因素。产前超声检查诊断此病对进行终止妊娠具有重要意义。
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引用次数: 0
Melatonin Attenuates PFOS-Induced Reproductive Toxicity of Pregnant Mice due to Placental Damage Via Antioxidant, Anti-Aging and Anti-Inflammatory Pathways 褪黑素通过抗氧化、抗衰老和抗炎途径减弱pfos引起的妊娠小鼠胎盘损伤的生殖毒性。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-12 DOI: 10.1002/bdr2.2423
Jianqiu Han, Zhikai Lu, Yalei Qi, Tengfei Liu, Yongmei Li, Honghui Han, Chen Zhao, Xueyun Ma

Background

Perfluorooctane sulfonate (PFOS), an industrially synthesized persistent organic pollutant (POP), is intricately intertwined with human production and daily life. It has been discovered that PFOS is related to an elevated incidence of birth defects in fetuses. In contrast, melatonin (MLT), a hormone secreted by the pineal gland, has been demonstrated to exert a protective effect on reproductive development.

Methods

This paper investigates the protective effect of MLT against PFOS-induced reproductive toxicity by simultaneously orally administering MLT to pregnant mice exposed to PFOS. The therapeutic effect was evaluated through the monitoring of pregnancy outcomes, histological changes in the placenta, apoptosis and proliferation of placental spongiotrophoblast, as well as the expression of antioxidant enzyme genes, anti-aging genes, anti-inflammatory genes and other relevant genes.

Results

The results of the study demonstrated that MLT treatment reversed the adverse pregnancy outcomes caused by toxic PFOS, including a low number of implanted fetuses, low neonatal fetal weight, and an increased number of resorbed fetuses. MLT treatment decreased the levels of MDA, an oxidation product generated by PFOS in the placenta of pregnant mice, and increased the levels of the antioxidant enzyme SOD. Additionally, MLT was able to maintain the normalization of placental structure, reduce apoptosis and sustain the proliferation of placental spongiotrophoblast by upregulating the expression of antioxidant genes (Nrf2, CAT) and anti-aging gene (Klotho), anti-inflammatory gene (Hsd11b2), thereby counteracting the oxidative stress caused by PFOS in the placenta, moreover, it also reduced the expression of inflammatory genes (Pycard) in the placenta.

Conclusions

The findings firmly establish the effectiveness of MLT in mitigating the harmful impacts of tainted PFOS on reproductive development during pregnancy. This provides a novel therapeutic approach for addressing PFOS-induced birth defects in fetuses.

背景:全氟辛烷磺酸(PFOS)是一种工业合成的持久性有机污染物(POP),与人类生产和日常生活有着错综复杂的关系。已经发现全氟辛烷磺酸与胎儿出生缺陷发生率升高有关。相反,褪黑激素(MLT),一种由松果体分泌的激素,已被证明对生殖发育有保护作用。方法:对暴露于全氟辛烷磺酸(PFOS)的妊娠小鼠同时口服MLT,观察MLT对PFOS诱导的生殖毒性的保护作用。通过监测妊娠结局、胎盘组织学变化、胎盘海绵滋养细胞凋亡和增殖情况,以及抗氧化酶基因、抗衰老基因、抗炎基因等相关基因的表达来评价治疗效果。结果:研究结果表明,MLT治疗逆转了有毒全氟辛烷磺酸引起的不良妊娠结局,包括植入胎儿数量少、新生儿胎儿体重低、再吸收胎儿数量增加。MLT处理降低了妊娠小鼠胎盘中PFOS氧化产物丙二醛(MDA)的水平,并增加了抗氧化酶SOD的水平。此外,MLT还能通过上调抗氧化基因(Nrf2、CAT)和抗衰老基因(Klotho)、抗炎基因(Hsd11b2)的表达,维持胎盘结构的正常化,减少细胞凋亡,维持胎盘海绵滋养细胞的增殖,从而抵消胎盘中PFOS引起的氧化应激,同时还能降低胎盘中炎症基因(Pycard)的表达。结论:本研究结果明确了MLT在减轻受污染的全氟辛烷磺酸对妊娠期生殖发育的有害影响方面的有效性。这为解决全氟辛烷磺酸引起的胎儿出生缺陷提供了一种新的治疗方法。
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引用次数: 0
Associations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997–2011 母亲孕期饮酒与后代颅缝闭合风险的关系,国家出生缺陷预防研究,1997-2011。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-12 DOI: 10.1002/bdr2.2420
Sarah C. Fisher, Paul A. Romitti, Melissa Tracy, Meredith M. Howley, Ethylin Wang Jabs, Marilyn L. Browne, the National Birth Defects Prevention Study

Background

Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We updated a previous analysis of National Birth Defects Prevention Study (NBDPS) data to further examine associations between maternal alcohol consumption and craniosynostosis.

Methods

NBDPS was a multi-site, population-based case–control study. Mothers of craniosynostosis cases and randomly selected liveborn controls delivered during 1997–2011 completed a telephone interview about pregnancy exposures. We examined associations for self-reported periconceptional maternal alcohol consumption (during the month before conception through the third gestational month) and odds of craniosynostosis in offspring. We used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs) for associations between any alcohol consumption and binge consumption and craniosynostosis, overall and by affected suture. Finally, we performed a probabilistic bias analysis using a range of assumptions about the sensitivity and specificity of self-reported consumption by case/control status.

Results

We analyzed interview data from 1435 mothers of craniosynostosis cases and 11,216 mothers of controls. Periconceptional alcohol consumption prevalence was similar among case (36.9%) and control (38.2%) mothers. We observed point estimates near or below 1.0 for alcohol consumption (any and binge) and all suture subtypes of craniosynostosis, with all CIs including the null. Our bias-adjusted estimates for periconceptional alcohol consumption were higher than our conventional estimates but supported the null findings.

Conclusions

We observed primarily null associations between maternal periconceptional alcohol consumption and craniosynostosis. However, our findings do not diminish the prevailing clinical guidance in the United States that pregnant people should abstain from alcohol consumption.

背景:以往关于母亲饮酒与颅缝闭合的研究报道了零关联或负相关。我们更新了先前对国家出生缺陷预防研究(NBDPS)数据的分析,以进一步研究母亲饮酒与颅缝闭合之间的关系。方法:NBDPS是一项多地点、基于人群的病例对照研究。在1997-2011年期间分娩的颅缝闭合病例的母亲和随机选择的活产对照者完成了关于妊娠暴露的电话采访。我们研究了自我报告的母体孕期饮酒(受孕前一个月至妊娠第三个月)与后代颅缝闭锁几率的关系。我们使用逻辑回归来估计任何饮酒和暴饮与颅缝闭合之间的比值比(ORs)和95%置信区间(CIs),总体上和受影响的缝合。最后,我们使用一系列关于病例/控制状态下自我报告消费的敏感性和特异性的假设进行了概率偏差分析。结果:我们分析了1435例颅缝闭合母亲和11216例对照组母亲的访谈数据。病例母亲(36.9%)和对照组母亲(38.2%)围孕期饮酒患病率相似。我们观察到饮酒(任意和暴饮)和所有缝合型颅缝闭合的点估计值接近或低于1.0,所有ci包括零值。我们对围孕期酒精摄入量的偏倚调整估计值高于我们的常规估计值,但支持无效发现。结论:我们观察到孕妇孕期饮酒与颅缝闭闭之间的关联基本为零。然而,我们的发现并没有削弱美国流行的临床指导,即孕妇应该戒酒。
{"title":"Associations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997–2011","authors":"Sarah C. Fisher,&nbsp;Paul A. Romitti,&nbsp;Melissa Tracy,&nbsp;Meredith M. Howley,&nbsp;Ethylin Wang Jabs,&nbsp;Marilyn L. Browne,&nbsp;the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2420","DOIUrl":"10.1002/bdr2.2420","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We updated a previous analysis of National Birth Defects Prevention Study (NBDPS) data to further examine associations between maternal alcohol consumption and craniosynostosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>NBDPS was a multi-site, population-based case–control study. Mothers of craniosynostosis cases and randomly selected liveborn controls delivered during 1997–2011 completed a telephone interview about pregnancy exposures. We examined associations for self-reported periconceptional maternal alcohol consumption (during the month before conception through the third gestational month) and odds of craniosynostosis in offspring. We used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs) for associations between any alcohol consumption and binge consumption and craniosynostosis, overall and by affected suture. Finally, we performed a probabilistic bias analysis using a range of assumptions about the sensitivity and specificity of self-reported consumption by case/control status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We analyzed interview data from 1435 mothers of craniosynostosis cases and 11,216 mothers of controls. Periconceptional alcohol consumption prevalence was similar among case (36.9%) and control (38.2%) mothers. We observed point estimates near or below 1.0 for alcohol consumption (any and binge) and all suture subtypes of craniosynostosis, with all CIs including the null. Our bias-adjusted estimates for periconceptional alcohol consumption were higher than our conventional estimates but supported the null findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We observed primarily null associations between maternal periconceptional alcohol consumption and craniosynostosis. However, our findings do not diminish the prevailing clinical guidance in the United States that pregnant people should abstain from alcohol consumption.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811878","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
Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Atresia 先天性食管闭锁患儿伴或不伴气管食管闭锁的童年教育结局。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-08 DOI: 10.1002/bdr2.2417
Nahed O. ElHassan, Ruiqi Cen, Charles P. Pugh, Chary Akmyradov, Jun Ying, Anthony Goudie, Wendy N. Nembhard

Background

There are limited studies on educational outcomes of children born with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF). We aimed to compare 3rd to 5th grade academic proficiency among children born with EA/TEF versus unaffected children.

Methods

Children born with EA/TEF (2000–2005) were identified from the Arkansas Reproductive Health Monitoring System. For each child born with EA/TEF, up to two unaffected children were selected from birth certificates and matched on hospital and month of birth, sex, and race and ethnicity. Data on NICU hospitalization were abstracted from medical records at Arkansas' only pediatric specialty hospital. The study outcomes were 3rd to 5th grade proficiency on literacy and mathematic standardized achievement tests, referral to special education, and days of school absence. Regression models were used to assess the association of outcome measures with diagnosis of EA/TEF, after adjusting for differences in covariates between EA/TEF and unaffected children and accounting for paired correlations using the generalized estimating equation method.

Results

The final cohort included 20 surviving children born with EA/TEF and 31 unaffected children. There was no significant difference in literacy (3rd: 70% vs. 71%; 4th: 83% vs. 81%; 5th: 94% vs. 87%, p > 0.05) or mathematics proficiency (3rd: 80% vs. 87%; 4th: 83% vs. 78%; 5th: 75% vs. 78%, p > 0.05), referral to special education (20% vs. 19%, p = 0.65), or total days of school absence (47 vs. 26 days, p = 0.07) between EA/TEF and unaffected children.

Conclusions

Children born with EA/TEF had comparable academic proficiency to unaffected children.

背景:关于先天性食管闭锁(EA)患儿伴或不伴气管食管瘘(TEF)的教育效果的研究有限。我们的目的是比较出生时患有EA/TEF的儿童与未受影响的儿童的三年级到五年级的学术水平。方法:从阿肯色州生殖健康监测系统中确定2000-2005年出生时患有EA/TEF的儿童。对于每个出生时患有EA/TEF的儿童,从出生证明中选择最多两个未受影响的儿童,并根据医院和出生月份、性别、种族和民族进行匹配。新生儿重症监护病房住院的数据是从阿肯色州唯一一家儿科专科医院的医疗记录中提取的。研究结果包括三到五年级的读写和数学标准化成绩测试的熟练程度,转到特殊教育的情况,以及缺课天数。在调整EA/TEF和未受影响儿童之间协变量的差异,并使用广义估计方程方法考虑配对相关性后,使用回归模型评估结果测量与EA/TEF诊断的相关性。结果:最终队列包括20名出生时患有EA/TEF的幸存儿童和31名未受影响的儿童。在读写能力方面没有显著差异(第三:70% vs 71%;第4:83% vs. 81%;第五名:94% vs. 87%, p > 0.05)或数学熟练程度(第三名:80% vs. 87%;第4:83% vs. 78%;第5:75%对78%,p > 0.05),转到特殊教育(20%对19%,p = 0.65),或总缺课天数(47对26天,p = 0.07)在EA/TEF和未受影响的儿童之间。结论:出生时患有EA/TEF的儿童与未受影响的儿童具有相当的学术熟练程度。
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引用次数: 0
Parental Smoking and the Risk of Birth Defects in Offspring in China: A Systematic Review and meta-Analysis 中国父母吸烟与后代出生缺陷风险:系统回顾和荟萃分析。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-12-08 DOI: 10.1002/bdr2.2422
Jinxi Han, Yunxia Zhang, Yibo Liu, Jikai Liu, Yuehua Zhang, Kaijuan Wang

Objective

A meta-analysis of case-control studies was conducted to assess the risk of birth defects in offspring in China associated with maternal active and passive smoking and paternal smoking.

Methods

Four electronic databases were searched for qualified research up to December 2023. A Random-effect model or fixed-effect model was used to calculate the overall comprehensive risk estimates; and the relationship between parental smoking and the risk of birth defects in different periods of pregnancy. Subgroup and sensitivity analyses were performed to explore possible sources of heterogeneity.

Results

Sixty-two qualified studies involving 137,574 cases and 8,770,837 controls were included. Overall, maternal active smoking (OR = 2.19; 95% confidence interval (CI): 1.72–2.79; p < 0.01) and passive smoking (OR = 2.59,95% CI: 2.24–2.99; p < 0.01) as well as paternal active smoking (OR = 1.47,95% CI: 1.34–1.62; p < 0.01) were significantly associated with birth defect risk. The sources of heterogeneity were explored by subgroup analysis. Subgroup analysis showed that the risk of congenital heart disease in offspring was increased in paternal and maternal active smoking (OR = 2.97, 95% CI: 2.01–4.39; OR = 1.51, 95% CI: 1.30–1.74), respectively. Sensitivity analysis yielded consistent results.

Conclusion

Maternal active and passive smoking and paternal active smoking are risk factors for birth defects in offspring. Parents should be encouraged to quit smoking during the perinatal period and pregnancy.

目的:对病例对照研究进行荟萃分析,以评估中国母亲主动和被动吸烟以及父亲吸烟与后代出生缺陷的风险关系。方法:检索截至2023年12月的4个电子数据库。采用随机效应模型或固定效应模型计算总体综合风险估计值;以及父母吸烟与不同孕期出生缺陷风险之间的关系。进行亚组分析和敏感性分析以探索可能的异质性来源。结果:纳入62项合格研究,涉及137,574例病例和8,770,837例对照。总体而言,产妇主动吸烟(OR = 2.19;95%置信区间(CI): 1.72 ~ 2.79;结论:母亲主动、被动吸烟和父亲主动吸烟是子代出生缺陷的危险因素。应鼓励父母在围产期和怀孕期间戒烟。
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引用次数: 0
Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo 维生素 B6 对雏鸡胚胎中铅诱导的畸胎效应的保护作用
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-11-26 DOI: 10.1002/bdr2.2416
Waheed Ahmad, Muhammad Ali Kanwal, Iram Inayat, Syeda Nadia Ahmad, Aima Iram Batool, Nazish Ghazanfar, Rabia Idrees, Sadia Suleman, Asma Younis, Khawaja Raees Ahmad

Background

Heavy metals like lead (Pb) have been used by humans for a very long time, but throughout the industrial revolution, their use expanded, increasing exposure to the metal. Lead, however, has no biological purpose in the human body and is hazardous when it gets into soft tissues and organs. Lead is still used in a variety of industries, including battery manufacturing and car maintenance, despite efforts to limit its usage.

Objective

This study investigates the teratogenic and morphometric effects of lead on chick embryos and the potential ameliorative effects of vitamin B6.

Methods

Two hundred fertilized eggs from the golden black chicken were divided into four groups: control, lead acetate, vitamin B6, and lead + vitamin B6.

Results

On the 14th day, embryos were analyzed. Significant reductions in body weight and size were observed in the lead-exposed group (33.93 ± 1.27 g) compared to the control (41.12 ± 0.97 g). Pronounced deformities included rudimentary beaks, protruding eyes, tridactyl limbs, hydrocephaly, and neck deformities. Appendicular deformities like phocomelia, amelia, and abnormal phalanges growth were also noted. Vitamin B6 demonstrated therapeutic benefits, significantly improving mean embryo weight in the Lead + Vitamin B6 group (42.37 ± 0.99 g). The lead-exposed group showed a reduction in maxilla length (3.61 ± 1.30 mm) compared to the Lead + Vitamin B6 group (7.57 ± 0.79 mm). This group also showed reduced severity of muscular dystrophy and bone thinning, with signs of recovery in beak and bone sizes.

Conclusions

The study highlights vitamin B6's beneficial impact in mitigating lead's toxic effects on chick embryonic development.

背景:人类使用铅(Pb)等重金属由来已久,但在整个工业革命期间,重金属的使用范围不断扩大,从而增加了人类接触金属的机会。然而,铅在人体内没有生物作用,一旦进入软组织和器官就会造成危害。尽管人们努力限制铅的使用,但铅仍被用于电池制造和汽车维修等多个行业:本研究调查了铅对小鸡胚胎的致畸和形态学影响,以及维生素 B6 的潜在改善作用:方法:将 200 枚金乌鸡受精卵分为四组:对照组、醋酸铅组、维生素 B6 组和铅 + 维生素 B6 组:第 14 天,对胚胎进行分析。与对照组(41.12 ± 0.97 克)相比,铅暴露组(33.93 ± 1.27 克)的体重和体型显著下降。明显的畸形包括喙不发育、眼球突出、四肢三足、头畸形和颈部畸形。此外,还出现了趾骨畸形、羊角畸形和趾骨生长异常等附肢畸形。维生素 B6 具有治疗作用,可显著提高铅+维生素 B6 组的平均胚胎重量(42.37 ± 0.99 克)。铅暴露组的上颌骨长度(3.61 ± 1.30 毫米)比铅+维生素 B6 组(7.57 ± 0.79 毫米)有所减少。该组的肌肉萎缩和骨质稀疏的严重程度也有所减轻,喙和骨的大小也有恢复迹象:该研究强调了维生素 B6 在减轻铅对小鸡胚胎发育的毒性影响方面的有益影响。
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引用次数: 0
Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study 欧洲 15 个国家的先天性眼部异常患病率:Medikeye 研究的结果
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-11-25 DOI: 10.1002/bdr2.2414
Charlotte Dubucs, Anthony Caillet, Félix Frémont, Laurane Delteil, Van N'Go, Amanda Julie Neville, Elisa Ballardini, Helen Dolk, Maria Loane, Ester Garne, Babak Khoshnood, Nathalie Lelong, Anke Rissmann, Mary O'Mahony, Anna Pierini, Miriam Gatt, Jorieke Bergman, Maciej Robert Krawczynski, Anna Latos Bielenska, Luis Javier Echevarría González de Garibay, Clara Cavero-Carbonell, Marie-Claude Addor, David Tucker, Sue Jordan, Elly Den Hond, Vera Nelen, Ingeborg Barisic, Florence Rouget, Hanitra Randrianaivo, Jonathan Hoareau, Isabelle Perthus, Caroline Hurault-Delarue, Monique Courtade-Saïdi, Christine Damase-Michel

Background

Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.

Methods

Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.

Results

The prevalence of total COA was 3.47/10,000 births (95% CI [3.61–3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%–25% of COA depending on their class.

Conclusions

This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.

背景 先天性眼部异常(COA)是高收入国家儿童视力受损的最常见原因之一。本研究旨在描述参与 EUROmediCAT 联盟的欧洲人群先天性视力异常登记处(EUROCAT)所记录的各种先天性视力异常的发病率。 方法 这项描述性流行病学研究纳入了来自 19 个 EUROmediCAT 登记处和一个医疗保健数据库(EFEMERIS)的数据。COA病例包括活产、胎龄20周以上的胎儿畸形和因胎儿畸形而终止妊娠。 结果 COA 的总患病率为 3.47/10,000(95% CI [3.61-3.82]),根据登记册的不同,患病率从 1.41 到 13.46/10,000 不等。在 COA 病例中,先天性晶状体异常是最常见的异常(31%),其中一半以上是单眼异常(仅出现一种眼部异常)。无/小眼症是第二常见的先天性角膜异常(24%),其中四分之三是多发性畸形(与眼外大畸形有关)。在单个 COA 病例中,58 例是产前诊断的(4%),其中 58% 是在怀孕后三个月诊断的。已知的 COA 遗传原因占 COA 的 2.5%-25%,具体取决于其类别。 结论 这是欧洲第一项描述 COA 的研究。该研究提供的详细发病率数据可改善不同类别 COA 的筛查和早期诊断。由于 COA 非常罕见,因此对大量人群进行流行病学监测和准确的临床描述至关重要。
{"title":"Prevalence of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study","authors":"Charlotte Dubucs,&nbsp;Anthony Caillet,&nbsp;Félix Frémont,&nbsp;Laurane Delteil,&nbsp;Van N'Go,&nbsp;Amanda Julie Neville,&nbsp;Elisa Ballardini,&nbsp;Helen Dolk,&nbsp;Maria Loane,&nbsp;Ester Garne,&nbsp;Babak Khoshnood,&nbsp;Nathalie Lelong,&nbsp;Anke Rissmann,&nbsp;Mary O'Mahony,&nbsp;Anna Pierini,&nbsp;Miriam Gatt,&nbsp;Jorieke Bergman,&nbsp;Maciej Robert Krawczynski,&nbsp;Anna Latos Bielenska,&nbsp;Luis Javier Echevarría González de Garibay,&nbsp;Clara Cavero-Carbonell,&nbsp;Marie-Claude Addor,&nbsp;David Tucker,&nbsp;Sue Jordan,&nbsp;Elly Den Hond,&nbsp;Vera Nelen,&nbsp;Ingeborg Barisic,&nbsp;Florence Rouget,&nbsp;Hanitra Randrianaivo,&nbsp;Jonathan Hoareau,&nbsp;Isabelle Perthus,&nbsp;Caroline Hurault-Delarue,&nbsp;Monique Courtade-Saïdi,&nbsp;Christine Damase-Michel","doi":"10.1002/bdr2.2414","DOIUrl":"https://doi.org/10.1002/bdr2.2414","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of total COA was 3.47/10,000 births (95% CI [3.61–3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%–25% of COA depending on their class.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2414","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708355","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
Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019 德克萨斯州出生缺陷登记处 1999-2019 年巨头畸形流行病学情况
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-11-25 DOI: 10.1002/bdr2.2415
Rachel P. Allred, J. Aguilar-Martinez, R. Howell, Dayana Betancourt, Lisa Marengo, A. Dixon, H. Jeon, C. Yantz, M. Kilburn, Margaret Drummond-Borg, Joanne Nguyen, Fernando Arena, Charles Shumate
<div> <section> <h3> Background</h3> <p>Macrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics.</p> </section> <section> <h3> Methods</h3> <p>Cases of TBDR between 1999 and 2019 with a six-digit Centers for Disease Control modified-British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either “benign” or “familial”, (2) definite, non-isolated cases, (3) definite non-isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co-occurring congenital defects among definite, non-isolated cases.</p> </section> <section> <h3> Results</h3> <p>Overall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83–18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non-isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non-Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co-occurring congenital defects among definite, non-isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]).</p> </section> <section> <h3> Conclusions</h3> <p>To our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long-term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.<
背景 巨脑畸形是一种临床表现,是指头围超过同年龄和性别标准两个标准差。根据其定义,巨头畸形大约发生在 3% 的人口中。文献中缺乏对巨头畸形的描述性流行病学评估。本研究的主要目的是描述德克萨斯州出生缺陷登记处(TBDR)按婴儿性别、农村/城市居住地和特定产妇特征统计的巨脑畸形发病率。 方法 确定 1999 年至 2019 年期间 TBDR 的病例,这些病例的六位数疾病控制中心-英国儿科协会(British Pediatric Association,BPA)代码为 742.400(脑/头增大、大头、巨颅症、巨脑症)。所有妊娠结果和诊断确定性均包括在内。患病率(每 10,000 例活产)和 95% 置信区间(CIs)通过泊松表按农村/城市居住地、婴儿性别、产妇年龄、教育程度、种族/民族、糖尿病史和体重指数(BMI)进行计算。流行率计算在多个敏感性分析中重复进行,包括:(1)明确的孤立病例,不包括有 "良性 "或 "家族性 "迹象的病例;(2)明确的非孤立病例;(3)明确的非孤立病例,不包括染色体和综合征病例;以及(4)明确的比例(出生时)病例。次要目标是描述明确的非分离病例中最常见的并发先天缺陷。 结果 总体而言,1999 年至 2019 年间,TBDR 共发现 14,637 例巨头畸形病例,患病率为 18.12/10,000(95% CI:17.83-18.42)。大多数病例为活产(99%),有明确诊断(87%),非隔离(57%)。男性、城市居民、年龄较大、非西班牙裔白人、高中以上学历、有糖尿病史和肥胖的母亲的患病率明显较高。在所有敏感性分析中,患病率模式保持一致。在明确的非分离病例中,最常见的并发先天性缺陷是轻微的,主要包括颅骨和面部骨骼异常(如长颅畸形 [18%])。 结论 据我们所知,这是首次在出生缺陷登记中对巨脑畸形进行流行病学评估。我们对孤立性巨头畸形的长期临床影响还不甚了解,这应该是未来调查的重点。
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引用次数: 0
Society for Birth Defects Research and Prevention Symposium: Health Disparities Within Communities of Color 出生缺陷研究与预防学会研讨会:有色人种社区内的健康差异。
IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Pub Date : 2024-11-14 DOI: 10.1002/bdr2.2412
Madeline K. M. Vera-Colón, Gredia Huerta-Montañez, Vijaya Kancherla, Martina Anto-Ocrah, Michelle Myer, Marilyn Helen Silva

Background

High-risk pregnancies and birth defects are often greater within communities of color where resources for a healthy pregnancy are generally lacking. Infant and maternal mortality, preterm birth, and instances of increased developmental and physical defects are related to environmental exposures (e.g., pesticides, lead in water, wildfire smoke), dietary additives, and lack of access to adequate healthcare. More frequently people of color and other under-served groups, are affected by historical inequality and unconscious bias. Compounding these disparities, research into these issues and efforts to address them are poorly supported.

Methods

The speakers in this symposium presented evidence for health disparities within communities of color to foster research aimed at identifying toxic levels of potentially hazardous dietary chemicals, or exposures in the pediatric population can focus on addressing the current inadequacy of translating scientific findings into enforceable policies.

Results

The disparities discussed within this symposium highlighted key areas in desperate need of policy reform. In the United States, regulatory exposure levels have been established for lead exposures but frequently exceed these limits without mitigation. Neural tube defects can be prevented by a simple dietary solution such as fortification of staple foods with folic acid. Recent literature on gender as a social determinant of health has determined women suffer more negative health consequences due to social attitudes.

Conclusions

Ultimately, this symposium provided an understanding of the experience of disadvantaged and marginalized persons during pregnancy, illustrated the disparities that exist in reproductive health, and described the need to address and prevent them.

背景:在有色人种社区中,高危妊娠和出生缺陷往往更为严重,因为这些社区普遍缺乏健康妊娠的资源。婴儿和产妇死亡率、早产以及发育和身体缺陷的增加与环境暴露(如杀虫剂、水中的铅、野火烟雾)、饮食添加剂以及缺乏适当的医疗保健有关。有色人种和其他服务不足的群体更经常受到历史不平等和无意识偏见的影响。除了这些差异之外,对这些问题的研究和解决这些问题的努力也缺乏支持:方法:在本次研讨会上,发言人提出了有色人种社区内健康差异的证据,以促进旨在确定潜在有害膳食化学品毒性水平的研究,或在儿科人群中的暴露,从而重点解决目前将科学发现转化为可执行政策的不足:本次研讨会讨论的差异突出了亟需进行政策改革的关键领域。在美国,已经制定了铅暴露的监管水平,但铅暴露经常超过这些限制而没有得到缓解。神经管缺陷可以通过简单的饮食解决方案来预防,比如在主食中添加叶酸。最近有关性别作为健康的社会决定因素的文献表明,由于社会态度的影响,女性遭受了更多的负面健康影响:最终,本次研讨会让人们了解了弱势和边缘化人群在怀孕期间的经历,说明了生殖健康方面存在的差异,并阐述了解决和预防这些差异的必要性。
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引用次数: 0
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Birth Defects Research
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