Cao Rui, Su Yanbing, Li Jianting, Ao Ruifang, Xu Xiangchao, Liang Yuxiang, Liu Zhizhen, Yu Qi, Xie Jun
Department of Biochemistry and Molecular Biology, Shanxi Key Laboratory of Birth Defect and Cell Regeneration, Key Laboratory of Coal Environmental Pathogenicity and Prevention of Ministry of Education, Shanxi Medical University, Taiyuan, China.
Translational Medicine Research Centre, Shanxi Medical University, Taiyuan, China.
Front Neurosci. 2024 Apr 8;18:1293400. doi: 10.3389/fnins.2024.1293400. eCollection 2024.
Neural tube defects (NTDs) is the most common birth defect of the central nervous system (CNS) which causes the death of almost 88,000 people every year around the world. Much efforts have been made to investigate the reasons that contribute to NTD and explore new ways to for prevention. We trawl the past decade (2013-2022) published records in order to get a worldwide view about NTDs research field.
7,437 records about NTDs were retrieved from the Web of Science (WOS) database. Tools such as shell scripts, VOSviewer, SCImago Graphica, CiteSpace and PubTator were used for data analysis and visualization.
Over the past decade, the number of publications has maintained an upward trend, except for 2022. The United States is the country with the highest number of publications and also with the closest collaboration with other countries. Baylor College of Medicine has the closest collaboration with other institutions worldwide and also was the most prolific institution. In the field of NTDs, research focuses on molecular mechanisms such as genes and signaling pathways related to folate metabolism, neurogenic diseases caused by neural tube closure disorders such as myelomeningocele and spina bifida, and prevention and treatment such as folate supplementation and surgical procedures. Most NTDs related genes are related to development, cell projection parts, and molecular binding. These genes are mainly concentrated in cancer, Wnt, MAPK, PI3K-Akt and other signaling pathways. The distribution of NTDs related SNPs on chromosomes 1, 3, 5, 11, 14, and 17 are relatively concentrated, which may be associated with high-risk of NTDs.
Bibliometric analysis of the literature on NTDs field provided the current status, hotspots and future directions to some extant. Further bioinformatics analysis expanded our understanding of NTDs-related genes function and revealed some important SNP clusters and loci. This study provided some guidance for further studies. More extensive cooperation and further research are needed to overcome the ongoing challenge in pathogenesis, prevention and treatment of NTDs.
神经管缺陷（NTDs）是中枢神经系统（CNS）最常见的出生缺陷，全球每年约有88000人因此死亡。人们为研究导致NTDs的原因并探索新的预防方法付出了巨大努力。我们检索了过去十年（2013 - 2022年）发表的记录，以便全面了解NTDs研究领域的情况。
从科学网（WOS）数据库中检索到7437条关于NTDs的记录。使用了诸如壳脚本、VOSviewer、SCImago Graphica、CiteSpace和PubTator等工具进行数据分析和可视化。
在过去十年中，除2022年外，出版物数量呈上升趋势。美国是出版物数量最多的国家，也是与其他国家合作最为紧密的国家。贝勒医学院与全球其他机构的合作最为紧密，也是产出最多的机构。在NTDs领域，研究重点集中在与叶酸代谢相关的基因和信号通路等分子机制、神经管闭合障碍引起的神经源性疾病如脊髓脊膜膨出和脊柱裂，以及叶酸补充和手术等预防和治疗方面。大多数与NTDs相关的基因与发育、细胞投射部分和分子结合有关。这些基因主要集中在癌症、Wnt、MAPK、PI3K - Akt等信号通路中。与NTDs相关的单核苷酸多态性（SNPs）在1、3、5、11、14和17号染色体上的分布相对集中，这可能与NTDs的高风险相关。
对NTDs领域文献的文献计量分析在一定程度上提供了当前的现状、热点和未来方向。进一步的生物信息学分析扩展了我们对与NTDs相关基因功能的理解，并揭示了一些重要的SNP簇和位点。本研究为进一步的研究提供了一些指导。需要更广泛的合作和进一步的研究来克服NTDs发病机制、预防和治疗方面持续存在的挑战。
