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脑脊液下一代测序在神经型布氏菌病诊断中的应用。

Next-generation sequencing of the cerebrospinal fluid in the diagnosis of neurobrucellosis.

机构信息

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China.

The Beijing Genomics Institute (Tianjin), Tianjin 200308, China.

出版信息

Int J Infect Dis. 2018 Feb;67:20-24. doi: 10.1016/j.ijid.2017.11.028. Epub 2017 Nov 28.

Abstract

BACKGROUND

Brucellosis is the most common zoonotic infection in the world. Brucellosis with nervous system involvement is known as 'neurobrucellosis' (NB). The diagnosis of NB is difficult because its clinical manifestations are non-specific and the sensitivity of routine culture tests is low.

METHODS

Next-generation sequencing (NGS) of cerebrospinal fluid (CSF) was used to detect pathogens in patients with clinically suspected central nervous system (CNS) infections at a tertiary referral center in China between June 1, 2016 and June 1, 2017. The clinical characteristics and NGS results of patients with the diagnosis of NB were reviewed in this study.

RESULTS

Four patients were rapidly diagnosed with NB using NGS of the CSF in patients with clinically suspected CNS infections, although the clinical manifestations varied dramatically between these patients. NGS of the CSF revealed that the sequence reads identified that corresponded to Brucella species ranged from 11 to 104, with genomic coverage ranging from 0.043% to 0.4%. Rapid diagnosis led to prompt treatment with the appropriate antibiotics.

CONCLUSIONS

This study demonstrates the power of NGS of the CSF coupled with a bioinformatic pipeline in the diagnosis of NB.

摘要

背景

布鲁氏菌病是世界上最常见的人畜共患病感染。累及神经系统的布鲁氏菌病被称为“神经布鲁氏菌病”(NB)。由于其临床表现非特异性,常规培养试验的敏感性低,因此 NB 的诊断较为困难。

方法

在中国一家三级转诊中心,于 2016 年 6 月 1 日至 2017 年 6 月 1 日期间,采用下一代测序(NGS)对疑似中枢神经系统(CNS)感染的患者的脑脊液(CSF)进行病原体检测。本研究回顾了诊断为 NB 的患者的临床特征和 NGS 结果。

结果

在疑似 CNS 感染的患者中,通过 CSF 的 NGS 快速诊断了 4 例 NB,尽管这些患者的临床表现差异很大。CSF 的 NGS 显示,与布鲁氏菌属相对应的序列读数范围为 11 至 104,基因组覆盖率范围为 0.043%至 0.4%。快速诊断导致及时使用适当的抗生素进行治疗。

结论

本研究表明,CSF 的 NGS 与生物信息学分析相结合,可有力诊断 NB。

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