关于肌肉活检在怀疑肌肉病变的患者中有用性的临床研究
Sudhakar Karunakaran1, Abraham Kuruvilla1, Muralidharan Nair1
1Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.
Annals of Indian Academy of Neurology
|May 30, 2025
概括
肌肉活检对于诊断肌肉病变仍然很有价值,特别是在资源有限的环境中. 它证实了超过一半的患者的诊断,并在许多情况下改变了治疗计划.
科学领域:
- 神经学 神经学
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- 由于遗传检测的进步,肌肉活检的作用受到争议.
- 评估肌肉活检的实用性至关重要,特别是在发展中国家.
研究的目的:
- 评估肌肉活检在疑似肌肉病变中的诊断和治疗影响.
- 确定肌肉活检在发展中国家环境中的有用性.
主要方法:
- 70名接受肌肉活检的患者的回顾性观察性研究 (2017年4月至2019年).
- 通过描述性和顺序性评分来评估诊断效用和治疗影响.
- 病理学,遗传学和免疫学数据之间的相关性分析.
主要成果:
- 肌肉活检在55.7%的患者 (63.6%的儿科患者) 中确立了特定的诊断.
- 肌肉发育不良和炎症性肌肉病是最常见的诊断.
- 活检证实了41.4%的活检前诊断,在22.9%的患者中改变了诊断,怀疑线粒体肌肉病变的显著变化.
结论:
- 肌肉活检有助于约一半肌肉病患者的具体诊断.
- 这项研究强调了肌肉活检在先进遗传检测有限的情况下的持续相关性.
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