面肩肱型肌营养不良活检的肌肉病理学分级
Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.
作者信息
Statland Jeffrey M, Shah Bharati, Henderson Don, Van Der Maarel Silvere, Tapscott Stephen J, Tawil Rabi
机构信息
Department of Neurology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.
出版信息
Muscle Nerve. 2015 Oct;52(4):521-6. doi: 10.1002/mus.24621. Epub 2015 Jun 18.
INTRODUCTION
As we move toward planning for clinical trials in facioscapulohumeral muscular dystrophy (FSHD), a better understanding of the clinical relationship with morphological changes in FSHD muscle biopsies will be important for stratifying patients and understanding post-therapeutic changes in muscle.
METHODS
We performed a prospective cross-sectional study of quadriceps muscle biopsies in 74 genetically confirmed FSHD participants (64 with FSHD type 1 and 10 with FSHD type 2). We compared a 12-point muscle pathology grade to genetic mutation, disease severity score, and quantitative myometry.
RESULTS
Pathology grade had moderate correlations with genetic mutation (rho = -0.45, P < 0.001), clinical severity score (rho = 0.53, P < 0.001), disease duration (rho = 0.31, P = 0.03), and quantitative myometry (rho = -0.47, P < 0.001). We found no difference in the frequency of inflammation between FSHD types 1 and 2.
CONCLUSIONS
The pathology grade of quadriceps muscle may be a useful marker of disease activity in FSHD, and it may have a role in stratification for future clinical trials.
引言
随着我们朝着对面肩肱型肌营养不良症（FSHD）进行临床试验规划迈进，更好地理解FSHD肌肉活检中临床与形态学变化之间的关系对于患者分层以及理解治疗后肌肉变化至关重要。
方法
我们对74名基因确诊的FSHD参与者（64名1型FSHD和10名2型FSHD）的股四头肌活检进行了一项前瞻性横断面研究。我们将12分的肌肉病理学分级与基因突变、疾病严重程度评分和定量肌测量进行了比较。
结果
病理学分级与基因突变（rho = -0.45，P < 0.001）、临床严重程度评分（rho = 0.53，P < 0.001）、疾病持续时间（rho = 0.31，P = 0.03）和定量肌测量（rho = -0.47，P < 0.001）具有中等相关性。我们发现1型和2型FSHD之间的炎症频率没有差异。
结论
股四头肌的病理学分级可能是FSHD疾病活动的一个有用标志物，并且它可能在未来临床试验的分层中发挥作用。
Zotero 插件