Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we d...Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results：The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was found.Conclusions：We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.展开更多
目的基于文献计量学方法,可视化分析DNA聚合酶ε/DNA聚合酶δ1(POLE/POLD1)突变在结直肠癌中的研究现状,并进一步探索其当前热点、展望未来发展趋势。方法以Web of Science数据库为数据来源,检索建库以来至2020年9月30年间已发表的相关...目的基于文献计量学方法,可视化分析DNA聚合酶ε/DNA聚合酶δ1(POLE/POLD1)突变在结直肠癌中的研究现状,并进一步探索其当前热点、展望未来发展趋势。方法以Web of Science数据库为数据来源,检索建库以来至2020年9月30年间已发表的相关文献,利用VOSviewer 1.6.11和CiteSpace 5.7软件对纳入已发表文献中的研究国家/机构分布情况、作者和关键词进行分析,并对关键词进行聚类分析、时间演化分析和Burst分析,绘制对应的可视化图谱并进行解析。结果共纳入299篇已发表的文献。文献计量学分析结果显示,近年来POLE/POLD1突变在结直肠癌诊疗中的应用研究稳步发展,2012年以后,年发表的研究文献数量开始明显增加;载文量最多的杂志是Familial Cancer和Proceedings of the National Academy of Sciences of the United States of America。发文量最高的作者是Tomlinson I。对发表文献所属国家和地区的分析结果显示,美国是该领域研究的主要国家,对发文量贡献最大;对研究者所在学术机构/大学分析后可知,英国牛津大学是发文量最多的研究大学/机构。关键词的聚类分析及时间演化分析结果表明,有关POLE/POLD1突变的研究热点集中在该基因突变对免疫治疗的影响。Burst分析结果显示,当前该领域已发表的研究从发表后2年开始被高引用并持续至今。结论 POLE/POLD1在结直肠癌中的突变无疑是当前研究的热点领域,其中肿瘤免疫治疗是该领域研究的焦点。展开更多
文摘Background：Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome （SCCMS）.Methods：Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results：The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C〉T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit （CHRNE） gene that causes a leucine-to-phenylalanine substitution at position 289 （L289F） was found.Conclusions：We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.
文摘目的基于文献计量学方法,可视化分析DNA聚合酶ε/DNA聚合酶δ1(POLE/POLD1)突变在结直肠癌中的研究现状,并进一步探索其当前热点、展望未来发展趋势。方法以Web of Science数据库为数据来源,检索建库以来至2020年9月30年间已发表的相关文献,利用VOSviewer 1.6.11和CiteSpace 5.7软件对纳入已发表文献中的研究国家/机构分布情况、作者和关键词进行分析,并对关键词进行聚类分析、时间演化分析和Burst分析,绘制对应的可视化图谱并进行解析。结果共纳入299篇已发表的文献。文献计量学分析结果显示,近年来POLE/POLD1突变在结直肠癌诊疗中的应用研究稳步发展,2012年以后,年发表的研究文献数量开始明显增加;载文量最多的杂志是Familial Cancer和Proceedings of the National Academy of Sciences of the United States of America。发文量最高的作者是Tomlinson I。对发表文献所属国家和地区的分析结果显示,美国是该领域研究的主要国家,对发文量贡献最大;对研究者所在学术机构/大学分析后可知,英国牛津大学是发文量最多的研究大学/机构。关键词的聚类分析及时间演化分析结果表明,有关POLE/POLD1突变的研究热点集中在该基因突变对免疫治疗的影响。Burst分析结果显示,当前该领域已发表的研究从发表后2年开始被高引用并持续至今。结论 POLE/POLD1在结直肠癌中的突变无疑是当前研究的热点领域,其中肿瘤免疫治疗是该领域研究的焦点。
