NOTCH2NLC重复扩展和相关疾病的进展:一个图书统计和元分析
Yangguang Lu1, Yiqun Chen1, Jiaqi Huang1
1The First School of Medicine, School of Information and Engineering, Wenzhou Medical University, Wenzhou, 325035, Zhejiang, China.
NOTCH2NLC GGC重复扩张在全球范围内很少见,主要发生在东亚和患有白细胞脑病的患者中. 研究趋势显示出增长,其中"神经元内核包容性疾病"是重点关注.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 医学研究 医学研究
背景情况:
- NOTCH2NLC GGC重复扩张与神经退行性疾病有关,但致病机制尚不清楚.
- 专注的研究是由了解这些机制和相关疾病模式的需要驱动的.
研究的目的:
- 进行研究趋势的文献分析和对NOTCH2NLC GGC重复扩展的阳性率的元分析.
- 为了确定全球研究热点和NOTCH2NLC GGC重复扩张的地理/表型分布.
主要方法:
- 在Web of Science,PubMed,Embase和Scopus数据库中进行了系统的文献搜索.
- 图书计量分析包括可视化出版物数据 (国家,机构,作者,期刊,关键词).
- 超分析使用随机效应模型将阳性率组合起来,通过漏斗图和埃格尔回归来评估出版偏差.
主要成果:
- 图书统计分析发现了119项研究,出版量显著增长,特别是来自中国和日本. "神经元内核包容性疾病"是一个关键的关键词.
- 对36项研究的元分析显示,患者的整体阳性率为1.79%,家庭为2.00%.
- 在台湾 (5.42%) 和白脑病变患者 (8.25%) 中观察到最高的阳性率.
结论:
- NOTCH2NLC GGC重复扩张在全球范围内很少见,集中在东亚和特定的患者表型,如白脑病变.
- 存在显著的区域和表型差异,突出了进一步合作研究的必要性.
- 该研究强调了新兴的研究焦点,以及对NOTCH2NLC相关疾病的持续调查的重要性.
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