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用于诊断脑膜脑炎的下一代测序:连续五例患者的病例系列

Next-generation sequencing for the diagnosis of meningoencephalitis: a case series of five consecutive patients.

作者信息

Yu Lili, Zhang Yu, Qi Xuejiao, Bai Kaixuan, Zhang Zhenyuan, Bu Hui

机构信息

Department of Neurology, the Second Hospital of Hebei Medical University, Shijiazhuang 050000, Hebei, PR China.

Key Laboratory of Neurology of Hebei Province, Shijiazhuang 050000, Hebei, PR China.

出版信息

J Med Microbiol. 2023 Jan;72(1). doi: 10.1099/jmm.0.001641.

Abstract

The prompt and specific diagnosis of meningoencephalitis (LMM) is challenging. Next-generation sequencing (NGS) of cerebrospinal fluid (CSF) is an emerging technique for diagnosing infrequent causative pathogens. We hypothesized that NGS of CSF is an effective approach for diagnosing LMM. To evaluate the effectiveness of NGS, we present five cases of LMM diagnosed using NGS of the CSF. Between August 2017 and 30 September 2020, we used NGS of the CSF to detect pathogens in patients with clinically suspected central nervous system infections. The clinical characteristics, laboratory tests, imaging findings and NGS results are reviewed. Five patients were diagnosed with LMM using NGS of the CSF within 2 to 4 days, although the clinical manifestations, medical history and imaging findings varied strikingly. NGS of CSF showed sequence reads corresponding to species ranging from 118 to 1997 bp, genomic coverage of 0.29-5.96 %, relative abundance of 14.83-32.16 % and sequencing depth of 1.12 to 1.35. The prompt diagnosis resulted in targeted and effective treatment with the appropriate antibiotics, although two patients with the most severe cerebral parenchymal lesions showed little improvement. Our results demonstrate the power of NGS of CSF for the prompt diagnosis of LMM. NGS of CSF is an important complementary tool for identifying .

摘要

脑膜脑炎(LMM)的快速、准确诊断具有挑战性。脑脊液(CSF)的二代测序(NGS)是一种用于诊断罕见致病病原体的新兴技术。我们假设脑脊液的NGS是诊断LMM的有效方法。为评估NGS的有效性,我们展示了5例通过脑脊液NGS诊断的LMM病例。在2017年8月至2020年9月30日期间,我们使用脑脊液NGS检测临床怀疑中枢神经系统感染患者的病原体。回顾了临床特征、实验室检查、影像学表现和NGS结果。5例患者通过脑脊液NGS在2至4天内被诊断为LMM,尽管临床表现、病史和影像学表现差异显著。脑脊液NGS显示序列读数对应于长度为118至1997 bp的物种,基因组覆盖率为0.29 - 5.96%,相对丰度为14.83 - 32.16%,测序深度为1.12至1.35。尽管有2例脑实质病变最严重的患者改善甚微,但快速诊断使得能够使用适当的抗生素进行针对性和有效的治疗。我们的结果证明了脑脊液NGS在快速诊断LMM方面的作用。脑脊液NGS是用于识别……的重要补充工具。

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