Birth Defects Research最新文献

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

Birth Defects Research

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

Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999–2014 色痣流行病学：1999-2014 年德克萨斯州的发病率和模式。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-11-12 DOI: 10.1002/bdr2.2413

Danielle L. Mitchell, Tiffany M. Chambers, A. J. Agopian, Renata H. Benjamin, Charles J. Shumate, Anne Slavotinek, Robert B. Hufnagel, Brian P. Brooks, Laura E. Mitchell, Philip J. Lupo

Background

Coloboma is a rare congenital malformation in which part of the tissue that makes up the eye is missing and may cause visual impairment or blindness. Little is known about the epidemiology of this condition. Therefore, we obtained data from the Texas Birth Defects Registry on children identified with coloboma for the period 1999–2014.

Methods

Using information on all live births from the same period, prevalence ratios (PRs) for selected demographic and clinical factors were used to estimate associations using Poisson regression among cases with coloboma. Coloboma cases were divided into subgroups to explore patterns of co-occurring defects and syndromes. All variables significant in unadjusted models (p < 0.05) were included in multivariable models to evaluate adjusted PRs (aPRs).

Results

We identified 1587 cases with coloboma, of whom 934 (58.8%) were nonsyndromic, and 474 (29.9%) were isolated. When considering all identified cases, factors associated with significant differences in prevalence included plurality (multiple vs. singleton aPR = 1.4, 95% CI: 1.1–1.8); maternal education (college or greater vs. less than high school aPR = 0.7, 95% CI: 0.6–0.9); maternal race/ethnicity (Hispanic vs. non-Hispanic White aPR = 0.9, 95% CI: 0.8–1.0); and maternal diabetes (yes vs. no aPR = 1.3, 95% CI: 1.0–1.6). There was a notable increase in the birth prevalence of coloboma during the study period (p-for-trend < 0.001). Effect estimates were similar across the different subgroups.

Conclusion

In our large population, we identified several factors associated with the prevalence of coloboma. These findings may help define subgroups of women more likely to have children affected by coloboma, which could inform improved screening efforts.

背景：睫状体瘤是一种罕见的先天性畸形，构成眼睛的部分组织缺失，可能导致视力障碍或失明。人们对这种疾病的流行病学知之甚少。因此，我们从德克萨斯州出生缺陷登记处获得了 1999-2014 年期间被确认患有巨眼症的儿童数据：方法：利用同期所有活产婴儿的信息，对选定的人口和临床因素进行患病率比（PRs）分析，并使用泊松回归法估算出膀胱阴道畸形病例之间的关联。将绒毛膜瘤病例分为若干亚组，以探讨同时出现的缺陷和综合征的模式。所有变量在未经调整的模型中均有意义（p 结果：所有变量在未经调整的模型中均有意义（p）：我们共发现了 1587 例嗜铬细胞瘤病例，其中 934 例（58.8%）为非综合征，474 例（29.9%）为孤立嗜铬细胞瘤。考虑到所有已确定的病例，与患病率的显著差异相关的因素包括：多胎性（多胎与单胎 aPR = 1.4，95% CI：1.1-1.8）；母亲教育程度（大专或以上与高中以下 aPR = 0.5，95% CI：1.1-1.8）；母亲年龄（大专或以上与高中以下 aPR = 0.5，95% CI：1.1-1.8）；母亲年龄（大专或以上与高中以下）。aPR = 0.7，95% CI：0.6-0.9）；产妇种族/族裔（西班牙裔与非西班牙裔白人 aPR = 0.9，95% CI：0.8-1.0）；以及产妇糖尿病（有与无 aPR = 1.3，95% CI：1.0-1.6）。在研究期间，巨脑瘤的出生率明显上升（P-趋势结论）：在我们的庞大人群中，我们发现了与巨脑瘤发病率相关的几个因素。这些发现可能有助于确定哪些妇女更有可能生下患有巨脑瘤的孩子，从而为改进筛查工作提供依据。

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引用次数: 0

The Impact of Maternal Passive Tobacco Smoke on Neonatal Myocardiopathy in Mice 母体被动吸烟对小鼠新生儿心肌病的影响

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-11-04 DOI: 10.1002/bdr2.2411

Naseer Kawish, Muddasir Hassan Abbasi, Muhammad Babar Khawar, Tasleem Akhtar, Amin Arif, Ayesha Majid, Nadeem Sheikh

Background

Tobacco smoke has a global impact, particularly on pregnant women and their newborns. An emerging body of research suggests that passive tobacco smoking is a significant contributor to congenital cardiovascular disorders (CVDs).

Aim of the Study

This study aimed to mimic the effects of passive tobacco smoke (PTS) on neonates exposed throughout the gestational period.

Methods

Female mice (DPC = 0) were exposed to PTS; 24 cigarettes/day with an interval of 10 min between each cigarette in a specialized smoke chamber from conception to birth. Histopathological analysis was employed to evaluate PTS-induced cardiac damage in neonates.

Results

The results revealed significant alterations in cell structure, namely, widened interstitial spaces, hemorrhage, pyknotic nuclei, inflammatory cell infiltration, collagen deposition, and fibrosis.

Conclusion

Maternal exposure to PTS during pregnancy may lead to neonatal myocardiopathy.

背景：烟草烟雾对全球都有影响，尤其是对孕妇及其新生儿。越来越多的研究表明，被动吸烟是导致先天性心血管疾病（CVDs）的重要因素：研究目的：本研究旨在模拟被动吸烟（PTS）对整个妊娠期接触被动吸烟的新生儿的影响：方法：将雌性小鼠（DPC = 0）置于专门的烟雾室中，从受孕到出生，每天吸24支烟，每支烟间隔10分钟。采用组织病理学分析评估 PTS 诱导的新生儿心脏损伤：结果：结果显示细胞结构发生了明显改变，即间隙增宽、出血、细胞核萎缩、炎性细胞浸润、胶原沉积和纤维化：结论：母亲在怀孕期间接触 PTS 可能会导致新生儿心肌病。

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引用次数: 0

Pharmacological Inhibition of the Spliceosome SF3b Complex by Pladienolide-B Elicits Craniofacial Developmental Defects in Mouse and Zebrafish Pladienolide-B 对剪接体 SF3b 复合物的药理抑制导致小鼠和斑马鱼颅面发育缺陷

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-11-04 DOI: 10.1002/bdr2.2404

Yukiko Hoshino, Shujie Liu, Toshiko Furutera, Takahiko Yamada, Daisuke Koyabu, Yuko Nukada, Masaaki Miyazawa, Tetsuya Yoda, Koichiro Ichimura, Sachiko Iseki, Junichi Tasaki, Masaki Takechi

Background

Mutations in genes encoding spliceosome components result in craniofacial structural defects in humans, referred to as spliceosomopathies. The SF3b complex is a crucial unit of the spliceosome, but model organisms generated through genetic modification of the complex do not perfectly mimic the phenotype of spliceosomopathies. Since the phenotypes are suggested to be determined by the extent of spliceosome dysfunction, an alternative experimental system that can seamlessly control SF3b function is needed.

Methods

To establish another experimental system for model organisms elucidating relationship between spliceosome function and human diseases, we administered Pladienolide-B (PB), a SF3b complex inhibitor, to mouse and zebrafish embryos and assessed resulting phenotypes.

Results

PB-treated mouse embryos exhibited neural tube defect and exencephaly, accompanied by apoptosis and reduced cell proliferation in the neural tube, but normal structure in the midface and jaw. PB administration to heterozygous knockout mice of Sf3b4, a gene coding for a SF3b component, influenced the formation of cranial neural crest cells (CNCCs). Despite challenges in continuous PB administration and a high death rate in mice, PB was stably administered to zebrafish embryos, resulting in prolonged survival. Brain, cranial nerve, retina, midface, and jaw development were affected, mimicking spliceosomopathy phenotypes. Additionally, alterations in cell proliferation, cell death, and migration of CNCCs were detected.

Conclusions

We demonstrated that zebrafish treated with PB exhibited phenotypes similar to those observed in human spliceosomopathies. This experimental system may serve as a valuable research tool for understanding spliceosome function and human diseases.

背景：编码剪接体成分的基因突变导致人类颅面结构缺陷，被称为剪接体病。SF3b 复合物是剪接体的关键单元，但通过对该复合物进行基因修饰而产生的模式生物并不能完全模拟剪接体病的表型。由于表型是由剪接体功能障碍的程度决定的，因此需要一种能无缝控制 SF3b 功能的替代实验系统：方法：为了建立另一个实验系统，用于阐明剪接体功能与人类疾病之间关系的模式生物，我们给小鼠和斑马鱼胚胎注射了一种SF3b复合体抑制剂Pladienolide-B（PB），并评估了由此产生的表型：结果：经PB处理的小鼠胚胎表现出神经管缺陷和无脑畸形，并伴有神经管细胞凋亡和细胞增殖减少，但中面部和下颌结构正常。给Sf3b4（一种编码SF3b成分的基因）杂合子基因敲除小鼠注射PB会影响颅神经嵴细胞（CNCC）的形成。尽管持续给药 PB 存在挑战，而且小鼠的死亡率很高，但给斑马鱼胚胎稳定给药 PB 却能延长其存活时间。斑马鱼的大脑、颅神经、视网膜、中面部和下颌的发育受到影响，模仿了剪接体病的表型。此外，还检测到 CNCCs 的细胞增殖、细胞死亡和迁移发生了改变：我们证明了斑马鱼经 PB 处理后表现出与人类剪接体病相似的表型。这一实验系统可作为了解剪接体功能和人类疾病的重要研究工具。

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引用次数: 0

Stone Babies: A Pictorial Essay With Insights From 25 Museal Lithopaedions 石婴：图文并茂的文章，从 25 块博物馆石碑中汲取灵感。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-31 DOI: 10.1002/bdr2.2410

Lucas L. Boer, Andreas Wasserscheid, Eduard Winter, Laurens de Rooy, Annelieke N. Schepens-Franke, Giovanni Magno, Alice Cusan, Helga Rehder, Jana Behunova, Anke Scharrer, Nick Lobé, Philipp Peloschek, Roelof-Jan Oostra, Susanne G. Kircher

Background

Lithopaedion, or “stone baby,” represents an exceptionally rare clinical phenomenon with fewer than 350 documented cases existing in the medical literature. This condition arises when an advanced extrauterine pregnancy ceases its developmental trajectory and undergoes a lithification process, potentially resulting in a calcified mass with fetal-like morphology. Typically, lithopaedions remain asymptomatic for decades, but may occasionally elicit acute symptoms necessitating medical intervention. However, predominantly, these entities are incidental findings discovered during radiological examinations or autopsies.

Results

In this article, we present a comprehensive overview of 25 lithopaedion cases, including unreported cases from several European medical museums. When feasible, additional radiological imaging was conducted to enhance diagnostic clarity. Furthermore, this article situates lithopaedions within a broader historical perspective and a detailed etiopathogenetic framework, elucidating the physiological and pathological mechanisms contributing to their formation. The phenomenon of lithopaedion is a testimony to the complex and often enigmatic nature of the human body.

Conclusions

By compiling and scrutinizing a substantial number of cases, this review offers valuable insights into the clinical implications of lithopaedions. Furthermore, it highlights the necessity for ongoing research and meticulous documentation of rare medical conditions like this, in order to contribute to a deeper understanding of extraordinary phenomena.

背景：结石症（或称 "结石宝宝"）是一种极为罕见的临床现象，医学文献中记载的病例不到 350 例。当晚期宫外孕停止发育并经历碎石过程时，就会出现这种情况，并可能形成具有胎儿样形态的钙化肿块。通常情况下，碎石会在数十年内保持无症状，但偶尔也会引发急性症状，需要进行医疗干预。然而，这些实体主要是在放射检查或尸检中偶然发现的：本文全面概述了 25 例碎石症病例，包括来自欧洲多家医学博物馆的未报告病例。在可行的情况下，我们进行了额外的放射成像检查，以提高诊断的清晰度。此外，本文还从更广阔的历史视角和详细的病因学框架出发，阐述了碎石形成的生理和病理机制。结石现象证明了人体的复杂性和神秘性：通过对大量病例的整理和研究，本综述为了解碎石的临床意义提供了宝贵的见解。此外，它还强调了对此类罕见病症进行持续研究和细致记录的必要性，从而有助于加深对特殊现象的理解。

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引用次数: 0

A Single Cell Transcriptomic Fingerprint of Stressed Premature, Imbalanced Differentiation of Embryonic Stem Cells 胚胎干细胞受压过早失衡分化的单细胞转录组指纹图谱

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-31 DOI: 10.1002/bdr2.2409

Ximena L Ruden, Aditi Singh, Teya Marben, Wen Tang, Awoniyi O Awonuga, Douglas M. Ruden, Elizabeth E Puscheck, Hao Feng, Steven J. Korzeniewski, Daniel A Rappolee

Background

Miscarriages cause a greater loss-of-life than cardiovascular diseases, but knowledge about environmentally induced miscarriages is limited. Cultured naïve pluripotent embryonic stem cells (ESC) differentiate into extra-embryonic endoderm/extraembryonic endoderm (XEN) or formative pluripotent ESC, during the period emulating maximal miscarriage of peri-implantation development. In previous reports using small marker sets, hyperosmotic sorbitol, or retinoic acid (RA) decreased naïve pluripotency and increased XEN by FACS quantitation.

Methods

Bulk and single cell (sc)RNAseq analyses of two cultured ESC lines was done, corroborated by qPCR. Transcriptomic responses were analyzed of cultured ESC stressed by Sorbitol, with Leukemia inhibitory factor (LIF + ; stemness growth factor), RA without LIF to control for XEN induction, and compared with normal differentiation (LIF − , ND).

Results

Sorbitol and RA increase subpopulations of 2-cell embryo-like (2CEL) and XEN sub-lineages; primitive, parietal, and visceral endoderm (VE) cells and suppress formative pluripotency, imbalancing alternate lineage choices of initial naïve pluripotent cultured ESC compared with ND. Although bulk RNAseq and gene ontology (GO) group analyses suggest that stress induces anterior VE-head organizer and placental markers, scRNAseq reveals relatively few cells. But VE and placental markers/cells were in adjacent stressed cell clusters in the UMAP, like recent, normal UMAP of conceptuses. UMAPs show that dose-dependent stress overrides stemness to force premature lineage imbalance.

Conclusions

Hyperosmotic stress, and other toxicological stresses, like drugs with active ingredient RA, may cause premature, lineage imbalance, resulting in miscarriages or birth defects.

背景：与心血管疾病相比，流产造成的生命损失更大，但有关环境诱发流产的知识却很有限。培养的幼稚多能胚胎干细胞（ESC）在胚胎围着植入发育的最大流产模拟期分化为胚外内胚层/胚外内胚层（XEN）或形成性多能胚胎干细胞。在之前使用小标记集的报告中，通过 FACS 定量，高渗山梨醇或维甲酸（RA）降低了幼稚多能性，增加了 XEN：方法：对两个培养的 ESC 株系进行了大量和单细胞（sc）RNAseq 分析，并通过 qPCR 进行了证实。分析了受山梨醇、白血病抑制因子（LIF +；干性生长因子）和不含 LIF 的 RA 胁迫的培养 ESC 的转录组反应，以控制 XEN 诱导，并与正常分化（LIF - , ND）进行比较：结果：与ND相比，山梨醇和RA增加了2细胞胚胎样（2CEL）和XEN亚系、原始细胞、顶叶细胞和内脏内胚层（VE）细胞的亚群，并抑制了形成性多能性，使初始幼稚多能培养ESC的交替系选择失衡。虽然大量 RNAseq 和基因本体（GO）组分析表明应激会诱导前 VE 头组织者和胎盘标记，但 scRNAseq 发现的细胞相对较少。但在UMAP中，VE和胎盘标记/细胞位于相邻的受压细胞簇中，就像最近的正常概念胎的UMAP一样。UMAPs表明，剂量依赖性应激超越了干性，迫使过早的系失衡：结论：高渗应激和其他毒性应激，如含有活性成分RA的药物，可能会导致过早的细胞系失衡，从而导致流产或出生缺陷。

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引用次数: 0

Correction to Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis 更正 "患有胃裂的孕妇自述感染与血清阳性之间的关系"：病例对照研究，重点是沙眼衣原体。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-29 DOI: 10.1002/bdr2.2407

Feldkamp, M., Baum-Jones, E., Enioutina, E., Krikov, S. and Kamath, K. (2024), Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis. Birth Defects Research, 116: e2400. https://doi.org/10.1002/bdr2.2400.

In the originally-published article, the following text should have been omitted from the Results section in the abstract: “changing partners between pregnancies (p=<0.01).” The entire Results section should read: “Results: Cases were more likely to report a younger age at sexual debut (p = <0.01), more sexual partners (p = 0.02), being un-married (p < 0.01), smoking cigarettes (<0.01), and a recent sexually trans-mitted infection (STI) (p = 0.02). No differences were observed for self-report of illicit drug use or periconceptional urinary tract infections. Cases had a higher seropositivity for cytomegalovirus (p = 0.01). No differences were observed for herpes simplex I, II, or Epstein–Barr. Though based on small numbers, C. trachomatis seropositivity was highest in cases (17%) compared to controls (8.8%) with the highest proportion observed in case women <20 years of age (cases 33%; controls 0%). Any STI (self-report or seropositivity) was also highest among cases <20 years of age (cases 47%; controls 0%). Among C. trachomatis seropositive women, self-report and prenatal medical record sensitivity was 27.8% and 3%, respectively.”

We apologize for this error.

Feldkamp, M.、Baum-Jones, E.、Enioutina, E.、Krikov, S.和 Kamath, K. (2024)，《患有胃裂的孕妇自述感染与血清阳性之间的关联》：病例对照研究，重点是沙眼衣原体。出生缺陷研究》，116：e2400。https://doi.org/10.1002/bdr2.2400。在最初发表的文章中，摘要的结果部分应省略以下文字："两次怀孕之间更换伴侣（p=<0.01）"。整个结果部分应为"结果：病例更有可能报告初次性行为的年龄较小（p=<0.01）、性伴侣较多（p=0.02）、未婚（p<0.01）、吸烟（<0.01）以及最近感染过性传播疾病（STI）（p=0.02）。在自我报告使用非法药物或围产期尿路感染方面没有观察到差异。病例的巨细胞病毒血清阳性率较高（p = 0.01）。在单纯疱疹 I 型、II 型或 Epstein-Barr 病毒方面未观察到差异。沙眼衣原体血清阳性率在病例中最高（17%），而在对照组中仅为 8.8%，其中 20 岁女性的比例最高（病例为 33%；对照组为 0%）。任何性传播感染（自我报告或血清阳性）在病例 <20 岁中的比例也最高（病例 47%；对照组 0%）。在沙眼衣原体血清阳性的妇女中，自我报告和产前医疗记录的敏感性分别为 27.8% 和 3%。

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引用次数: 0

Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings 与未受影响的兄弟姐妹相比，口唇裂和先天性心脏缺陷患儿叶酸和蛋氨酸循环基因中常见多态性的发生率更高。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-29 DOI: 10.1002/bdr2.2408

Nataša Karas Kuželički, Alenka Šmid, Maša Vidmar Golja, Tina Kek, Andreja Eberlinc, Borut Geršak, Uroš Mazič, Irena Mlinarič-Raščan, Ksenija Geršak

Background

Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.

Methods

We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings.

Results

Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the FPGS gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate–methionine cycles.

Conclusions

Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate–methionine cycles, indicating polygenic and possibly multifactorial inheritance.

背景：不间断的叶酸代谢在胚胎发育过程中起着至关重要的作用，它确保了重要过程所需的一碳活化叶酸辅助因子的供应。叶酸缺乏与口唇裂（OFC）和先天性心脏病（CHD）的发生有关。虽然这两种畸形已被广泛研究以替代叶酸缺乏，但由于母体和胎儿基因组在胎儿发育过程中控制叶酸代谢的相互作用，相应的研究结果并不明确：我们采用了创新性的研究设计，将来自同一母亲的受影响和未受影响的兄弟姐妹进行比较，从而将母体基因组的影响降至最低。因此，我们有可能找出只与孩子有关的先天性畸形遗传标记。本研究比较了受 OFC 或 CHD 影响的妊娠与未受影响的妊娠之间的人口和环境因素，以及受 OFC 或 CHD 影响的兄弟姐妹与未受影响的兄弟姐妹之间叶酸代谢基因的多态性：结果：只有孕妇在怀孕头三个月发烧才是导致OFC的风险因素，而孕妇高龄、服用药物和FPGS基因的常见多态性则会增加CHD形成的风险。OFC和CHD的形成都与叶酸-蛋氨酸循环基因中较多的变异位点有关：结论：OFC和CHD的形成都与叶酸-蛋氨酸循环基因中较多的变异位点有关，这表明是多基因遗传，也可能是多因素遗传。

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引用次数: 0

Pregnancy and Long-Term Postnatal Outcomes of Congenital Sacrococcygeal Teratoma: A Single Institution's 18-Year Experience 先天性骶尾部畸胎瘤的妊娠和产后长期疗效：一家医疗机构的 18 年经验

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-18 DOI: 10.1002/bdr2.2405

Ava D. Mandelbaum, Raphael C. Sun, Amanda J. H. Kim, Roya Sohaey, Melanie Hakar, Saharnaz Tavoosi, Lucy Ward, Monica Rincon, Allison J. Allen, Stephanie Dukhovny, Andrew H. Chon

Objective

The objective of this study is to evaluate outcomes of fetal sacrococcygeal teratoma (SCT) from an academic tertiary center.

Study Design

This is a retrospective study evaluating pregnancy and postnatal outcomes of fetal SCT management at a single institution between 2006 and 2023. Results are reported as median (range).

Results

Fourteen patients with fetal SCT were studied. Hydrops fetalis occurred in 2 (14.3%) cases. Pregnancy course included expectant management in 12 (85.7%) and palliative preterm induction in 1 patient (7.1%). Indications for delivering timing included fetal deterioration in 7 patients (50%), preeclampsia in 3 (21.4%), elective induction of delivery in 3 (21.4%), and preterm labor in 1 (7.1%). Delivery GA was 36.4 weeks (26.4–40.1 weeks), with 11 (78.5%) cesareans and 3 (21.4%) vaginal deliveries. There were 13 (92.9%) live births and 11 (78.6%) long-term survivors. Postnatal resection pathology demonstrated 7 (53.8%) mature, 3 (23.1%) immature, and 3 (23.1%) malignant SCTs. Of the 11 long-term survivors, 3 (27.3%) had teratoma recurrences, including 2 (18.2%) with metastatic disease requiring chemotherapy. Notable long-term complications involved gastrointestinal (n = 7, 63.6%), genitourinary (n = 4, 36.4%), and musculoskeletal (n = 2, 18.2%) systems.

Conclusion

SCT confers significant morbidity to both the pregnant patient and neonate. Multidisciplinary prenatal and postnatal care is needed to comprehensively manage this complex condition.

研究目的本研究旨在评估一家三级学术中心的胎儿骶尾部畸胎瘤（SCT）的治疗效果。研究设计这是一项回顾性研究，评估 2006 年至 2023 年间在一家医疗机构进行胎儿骶尾部畸胎瘤治疗的妊娠和产后结局。结果以中位数（范围）报告。结果研究了 14 例胎儿 SCT 患者。2例（14.3%）发生了胎儿水肿。12名患者（85.7%）的妊娠过程包括预产期管理，1名患者（7.1%）的妊娠过程包括姑息性早产引产。时机分娩的指征包括：7 名患者（50%）的胎儿情况恶化、3 名患者（21.4%）的子痫前期、3 名患者（21.4%）的选择性引产和 1 名患者（7.1%）的早产。产程为 36.4 周（26.4-40.1 周），其中 11 例（78.5%）剖宫产，3 例（21.4%）阴道分娩。活产 13 例（92.9%），长期存活 11 例（78.6%）。产后切除病理显示，7 例（53.8%）为成熟性 SCT，3 例（23.1%）为不成熟性 SCT，3 例（23.1%）为恶性 SCT。在11名长期存活者中，3人（27.3%）畸胎瘤复发，其中2人（18.2%）患有转移性疾病，需要接受化疗。值得注意的长期并发症涉及胃肠道系统（7 例，占 63.6%）、泌尿生殖系统（4 例，占 36.4%）和肌肉骨骼系统（2 例，占 18.2%）。结论 SCT 会给孕妇和新生儿带来严重的发病率。需要多学科的产前和产后护理来全面处理这种复杂的病症。

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引用次数: 0

Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts METTL16 基因变异影响非综合征性口腔颚裂的风险

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2024-10-15 DOI: 10.1002/bdr2.2403

Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan

Objective

N6-methyladenosine (m⁶A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m⁶A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).

Methods

The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m⁶A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.

Results

We identified that rs8078195 (A > C) in METTL16 was suggestively associated with the increased risk of NSOCs (OR = 1.32, p = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with METTL16 in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that METTL16 contributed to the development of NSOCs probably by regulating cell cycle process.

Conclusions

Rs8078195 in METTL16 was associated with the occurrence of NSOCs.

目的 N6-甲基腺苷（m6A）是真核生物中最常见的 RNA 修饰，与许多细胞过程和疾病有关。在此，我们的目的是探讨 m6A 修饰基因的遗传变异是否与非综合征口面裂（NSOCs）的风险有关。方法采用传递不平衡检验（TDT）计算 944 例父母三人中 m6A 修饰基因中单核苷酸多态性（SNPs）与非综合征口面裂（NSOCs）风险之间的关联。通过HaploReg、RegulomeDB和组蛋白富集数据预测了SNP的功能。利用基因型-组织表达（GTEx）和 eQTLGen 对表达定量性状位点（eQTL）进行了分析，并根据小鼠颅面部组织和斑马鱼胚胎中的基因表达数据，通过相关性和富集分析评估了该基因在 NSOCs 发病中的作用。结果我们发现，METTL16 中的 rs8078195 (A > C) 与 NSOC 风险的增加有提示性关联（OR = 1.32，p = 1.80E-03）。围绕 rs8078195 的区域受到脱氧核糖核酸酶超敏反应的影响，富含多种组蛋白修饰。此外，它与皮肤组织和人体外周血中的 METTL16 具有显著的 eQTL 效应，在 NSOCs 的发生发展中起着重要作用。生物信息学分析表明，METTL16 可能通过调控细胞周期过程促进了 NSOCs 的发展。结论 METTL16 中的 Rs8078195 与 NSOCs 的发生有关。

{"title":"Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts","authors":"Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan","doi":"10.1002/bdr2.2403","DOIUrl":"https://doi.org/10.1002/bdr2.2403","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>N6-methyladenosine (m<sup>6</sup>A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m<sup>6</sup>A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m<sup>6</sup>A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified that rs8078195 (A > C) in <i>METTL16</i> was suggestively associated with the increased risk of NSOCs (OR = 1.32, <i>p</i> = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with <i>METTL16</i> in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that <i>METTL16</i> contributed to the development of NSOCs probably by regulating cell cycle process.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Rs8078195 in <i>METTL16</i> was associated with the occurrence of NSOCs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439054","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