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通过ZNF512B基因、颈部屈肌肌力评分和体重指数(BMI)对肌萎缩侧索硬化症患者预后进行临床评估。

The clinical assessment of amyotrophic lateral sclerosis patients' prognosis by ZNF512B gene, neck flexor muscle power score and body mass index (BMI).

作者信息

Yu Chun-Jiang, Wang Li, Mao Sen-Lin, Zhang Ying, Song Ling-Ling, Cai Ling-Yu, Tao Ye

机构信息

Department of Neurology, the Second Affiliated Hospital of the Harbin Medical University, Harbin, 150081, China.

Department of Geriatrics, the Second Affiliated Hospital of the Harbin Medical University, Harbin, 150081, China.

出版信息

BMC Neurol. 2018 Dec 19;18(1):211. doi: 10.1186/s12883-018-1219-9.

DOI:10.1186/s12883-018-1219-9
PMID:30567526
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6299516/
Abstract

BACKGROUND

Assessment on the prognosis of amyotrophic lateral sclerosis (ALS) is becoming a focus of research in recent years since there is no effective treatment. The aim of the research is to explore the major factors involving in prognosis of ALS patients through long-term follow-up.

METHODS

ALS patients' DNA extracted from peripheral blood white cells were detected for the risk allele by single nucleotide polymorphism (SNP) analysis. Neck flexor muscle score and body mass index (BMI) were recorded during Medical Research Council follow-up using manual muscle testing method.

RESULTS

ALS patients with risk alleles (C) deteriorated rapidly with poor clinical outcome. It seemed that the higher neck flexor muscle strength score in ALS patients with the longer survival time but without significant correlation (p > 0.05). The lower the basal body mass index, the shorter the survival time and the faster deterioration (p < 0.05). The patients with body mass index less than 22.04 seemed to have short survival time than those with BMI more than 22.04 (p < 0.05), however, the speed of deterioration in two groups of patients had no significant difference (p > 0.05).

CONCLUSION

The risk (C) allele of the SNP (rs2275294) in the ZNF512B gene, cervical flexor muscle power and body weight index might have clinical potential for ALS prognostication, since these indicators is so simple to perform that they might be very suitable for primary clinics and even community medical institutions to carry out.

摘要

背景

由于目前尚无有效的治疗方法,肌萎缩侧索硬化症(ALS)预后评估成为近年来的研究热点。本研究旨在通过长期随访探索影响ALS患者预后的主要因素。

方法

采用单核苷酸多态性(SNP)分析检测从外周血白细胞中提取的ALS患者DNA的风险等位基因。在医学研究委员会随访期间,使用徒手肌力测试法记录颈屈肌评分和体重指数(BMI)。

结果

携带风险等位基因(C)的ALS患者病情迅速恶化,临床结局较差。似乎生存时间较长的ALS患者颈屈肌力量评分较高,但无显著相关性(p>0.05)。基础体重指数越低,生存时间越短,病情恶化越快(p<0.05)。体重指数小于22.04的患者似乎比体重指数大于22.04的患者生存时间短(p<0.05),然而,两组患者的病情恶化速度无显著差异(p>0.05)。

结论

ZNF512B基因中SNP(rs2275294)的风险(C)等位基因、颈屈肌力量和体重指数可能对ALS预后具有临床预测价值,因为这些指标操作简单,可能非常适合基层诊所甚至社区医疗机构开展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/20bae5617faa/12883_2018_1219_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/d7f5926bcdc0/12883_2018_1219_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/b75ced112638/12883_2018_1219_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/6f7a07186e80/12883_2018_1219_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/c88b822d085f/12883_2018_1219_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/1b625e83f3e4/12883_2018_1219_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/20bae5617faa/12883_2018_1219_Fig6_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/d7f5926bcdc0/12883_2018_1219_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/b75ced112638/12883_2018_1219_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/6f7a07186e80/12883_2018_1219_Fig3_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/c88b822d085f/12883_2018_1219_Fig4_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/1b625e83f3e4/12883_2018_1219_Fig5_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d4ed/6299516/20bae5617faa/12883_2018_1219_Fig6_HTML.jpg

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