PDF(Pubmed)
Abstract：
Nemaline myopathy is a skeletal muscle disease that affects 1 in 50 000 live births. The objective of this study was to develop a narrative synthesis of the findings of a systematic review of the latest case descriptions of patients with NM. A systematic search of MEDLINE, Embase, CINAHL, Web of Science, and Scopus was performed using Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines using the keywords pediatric, child, NM, nemaline rod, and rod myopathy. Case studies focused on pediatric NM and published in English between January 1, 2010, and December 31, 2020, in order to represent the most recent findings. Information was collected about the age of first signs, earliest presenting neuromuscular signs and symptoms, systems affected, progression, death, pathologic description, and genetic changes. Of a total of 385 records, 55 case reports or series were reviewed, covering 101 pediatric patients from 23 countries. We review varying presentations in children ranging in severity despite being caused by the same mutation, in addition to current and future clinical considerations relevant to the care of patients with NM. This review synthesizes genetic, histopathologic, and disease presentation findings from pediatric NM case reports. These data strengthen our understanding of the wide spectrum of disease seen in NM. Future studies are needed to identify the underlying molecular mechanism of pathology, to improve diagnostics, and to develop better methods to improve the quality of life for these patients.
摘要：
Nemaline肌病是一种骨骼肌疾病，影响50000个活产中的1个。这项研究的目的是对NM患者的最新病例描述进行系统评价的结果进行叙述性综合。系统搜索MEDLINE,Embase,CINAHL,WebofScience,和Scopus使用首选报告项目进行系统评价和Meta分析（PRISMA）指南，使用关键词儿科，孩子,NM,线虫杆,和棒肌病。案例研究集中于儿科NM，并在2010年1月1日至2020年12月31日以英文发表，以代表最新发现。收集了关于最初迹象年龄的信息，最早出现神经肌肉体征和症状，受影响的系统,programming,死亡,病理描述，和遗传变化。在总共385条记录中，回顾了55例病例报告或系列，覆盖来自23个国家的101名儿科患者。尽管是由相同的突变引起的，但我们回顾了儿童严重程度的不同表现，除了当前和未来与NM患者护理相关的临床考虑。这篇综述综合了遗传，组织病理学,以及儿科NM病例报告中的疾病表现发现。这些数据加强了我们对NM中广泛的疾病的理解。未来的研究需要确定病理的潜在分子机制，为了改善诊断，并开发更好的方法来改善这些患者的生活质量。
