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利用纳米孔测序技术诊断和治疗难治性传染病:三例病例报告

Diagnosis and treatment of refractory infectious diseases using nanopore sequencing technology: Three case reports.

作者信息

Deng Qing-Mei, Zhang Jian, Zhang Yi-Yong, Jia Min, Ding Du-Shan, Fang Yu-Qin, Wang Hong-Zhi, Gu Hong-Cang

机构信息

Science Island Branch, Graduate School of University of Science and Technology of China, Hefei 230031, Anhui Province, China.

Institute of Health and Medical Technology, Hefei Institutes of Physical Science, Chinese Academy of Science, Hefei 230031, Anhui Province, China.

出版信息

World J Clin Cases. 2024 Aug 6;12(22):5208-5216. doi: 10.12998/wjcc.v12.i22.5208.

Abstract

BACKGROUND

Infectious diseases are still one of the greatest threats to human health, and the etiology of 20% of cases of clinical fever is unknown; therefore, rapid identification of pathogens is highly important. Traditional culture methods are only able to detect a limited number of pathogens and are time-consuming; serologic detection has window periods, false-positive and false-negative problems; and nucleic acid molecular detection methods can detect several known pathogens only once. Three-generation nanopore sequencing technology provides new options for identifying pathogens.

CASE SUMMARY

Case 1: The patient was admitted to the hospital with abdominal pain for three days and cessation of defecation for five days, accompanied by cough and sputum. Nanopore sequencing of the drainage fluid revealed the presence of oral-like bacteria, leading to a clinical diagnosis of bronchopleural fistula. Cefoperazone sodium sulbactam treatment was effective. Case 2: The patient was admitted to the hospital with fever and headache, and CT revealed lung inflammation. Antibiotic treatment for , identified through nanopore sequencing of cerebrospinal fluid, was effective. Case 3: The patient was admitted to our hospital with intermittent fever and an enlarged neck mass that had persisted for more than six months. Despite antibacterial treatment, her symptoms worsened. The nanopore sequencing results indicate that voriconazole treatment is effective for . The patient was diagnosed with mixed cell type classical Hodgkin's lymphoma with infection.

CONCLUSION

Three-generation nanopore sequencing technology allows for rapid and accurate detection of pathogens in human infectious diseases.

摘要

背景

传染病仍然是对人类健康的最大威胁之一,20%的临床发热病例病因不明;因此,快速鉴定病原体非常重要。传统培养方法只能检测有限数量的病原体且耗时;血清学检测存在窗口期、假阳性和假阴性问题;核酸分子检测方法一次只能检测几种已知病原体。三代纳米孔测序技术为病原体鉴定提供了新的选择。

病例总结

病例1:患者因腹痛3天、停止排便5天入院,伴有咳嗽咳痰。引流液的纳米孔测序显示存在口腔样细菌,临床诊断为支气管胸膜瘘。头孢哌酮钠舒巴坦治疗有效。病例2:患者因发热、头痛入院,CT显示肺部炎症。通过脑脊液纳米孔测序鉴定出的病原体进行抗生素治疗有效。病例3:患者因间歇性发热和持续6个多月的颈部肿块增大入住我院。尽管进行了抗菌治疗,但其症状仍恶化。纳米孔测序结果表明伏立康唑治疗对[此处原文缺失信息]有效。该患者被诊断为混合细胞型经典霍奇金淋巴瘤伴感染。

结论

三代纳米孔测序技术能够快速、准确地检测人类传染病中的病原体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fcd0/11238794/ec6e9c729686/WJCC-12-5208-g001.jpg

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