成骨不全症的国内外研究热点及现状分析

The focus of research and current situation of osteogenesis imperfecta at home and abroad

目的通过分析成骨不全症的研究方法和诊疗方案来探讨总结国内外成骨不全症的研究现状及趋势。方法以PubMed和中国知识基础设施工程(China National Knowledge Infrastructure,CNKI)这两个代表性数据库在2012年-2017年所收录的有关成骨不全症相关研究文献为原始文献库,导出题录,利用书目共现系统(Bicomb 2.0软件)对主题词及关键词进行词频分析,建立共现矩阵,导入SPSS 16.0进行聚类分析和多维尺度分析。结果获取有效题录598条,筛选出25个英文及39个中文高频关键词。聚类分析及多维尺度分析结果显示,目前成骨不全症的主要研究方向有3个:①成骨不全症的诊断研究;②成骨不全症的治疗研究;③成骨不全症的病因研究。结论目前国内外对于罕见病的临床研究以及药物应用等方面都存在一定的缺口,通过对近年成骨不全症研究领域的热点分析,可为骨病变类罕见病的相关研究提供参考。

Objective By analyzing the research methods,diagnosis and treatment plan of rare diseases of bone lesions:osteogenesis imperfecta,the current situation and trend of research on osteogenesis imperfecta at home and abroad were summarized.Methods Taking the relevant research literature on osteogenesis imperfecta included in two representative databases of PubMed and China National Knowledge Infrastructure (CNKI)in 2012-2017 as the original document library,it derived the titles and used the bibliographic co-occurrence system (Bicomb 2.0 software)to conduct subject headings and key words frequency analysis.The co-occurrence matrix was established and imported into SPSS 16.0 for cluster analysis and multidimensional scaling analysis.Results A total of 598 valid bibliographies were selected,and high-frequency key words including 25 in English and 39 in Chinese were selected.Cluster .analysis and multi -dimen- sional scale analysis showed that the research themes of osteogenesis imperfecta in recent years can be divided into three categories :①the diagnosis of osteogenesis imperfecta;②the treatment of osteogenesis imperfecta;③the etiology of osteogenesis imperfecta.Conclusions There are some gaps in clinical research and drug application of rare diseases both at home and abroad.By analyzing the hot spot in the field of osteogenesis imperfecta in recent years,it can provide reference for the research on rare bone diseases.