Article
Infectious Diseases
Diefei Hu, Wenxiang Jin, Huarong Ding, Yu Pang, Shasha Ma, Min Yang, Shuwen Wu, Muliang Jiang, Lingling Pang, Shuming Luo, Qiuyue Ning
Summary: A 30-year-old male patient presented with a cyst on the left hip that had been progressively enlarging for over 2 months. Initial investigations pointed towards a cysticercosis infection, but treatment was ineffective. Subsequent metagenomic next-generation sequencing (mNGS) analysis of surgically excised tissue revealed a Spirometra mansoni infection, which was further confirmed by polymerase chain reaction and phylogenetic analysis. This study highlights the superior diagnostic capability of mNGS in identifying parasitic infections.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2023)
Article
Medicine, General & Internal
Sofia Barbosa-Gouveia, Maria Eugenia Vazquez-Mosquera, Emiliano Gonzalez-Vioque, Alvaro Hermida-Ameijeiras, Paula Sanchez-Pintos, Maria Jose de Castro, Soraya Ramiro Leon, Belen Gil-Fournier, Cristina Dominguez-Gonzalez, Ana Camacho Salas, Luis Negrao, Isabel Fineza, Francisco Laranjeira, Maria Luz Couce
Summary: Neuromuscular diseases are genetically heterogeneous, making diagnosis challenging. In this study, comprehensive gene-panel analysis and next-generation sequencing were used to analyze 268 patients with suspected inherited neuromuscular disorders. The addition of genes to the panel increased the diagnostic rate exponentially, with an overall rate of 36%. Most diagnoses were muscular dystrophies/myopathies and peripheral nerve diseases. The most common causative genes were TTN, RYR1, and ANO5.
JOURNAL OF CLINICAL MEDICINE
(2022)
Review
Microbiology
Chi-Ching Tsang, Jade L. L. Teng, Susanna K. P. Lau, Patrick C. Y. Woo
Summary: NGS technology has matured into clinical applications, showing potential advantages in diagnosing difficult-to-grow fungi and cases with low fungal loads. Studies have revealed that fungal infections diagnosed by NGS present some different characteristics from general epidemiology, such as a low HIV-positive rate among patients with P.jirovecii infections.
Article
Medicine, General & Internal
Fanfan Xing, Simon K. F. Lo, Yuanchao Ma, Jonathan Daniel Ip, Wan-Mui Chan, Meixun Zhou, Miaozi Gong, Susanna K. P. Lau, Patrick C. Y. Woo
Summary: This study presents the first report of using next-generation sequencing (NGS) for diagnosing histology- and culture-proven Mycobacterium marinum infection. The NGS technology using Oxford Nanopore Technologies' MinION device allowed for a microbiological diagnosis in less than 2 days, compared to the 20 days required to isolate the mycobacterium from tissue biopsy. NGS is particularly useful for detecting culture-negative and slow-growing microorganism infections, making it a valuable tool in routine clinical microbiology laboratories.
FRONTIERS IN MEDICINE
(2022)
Review
Biology
Calin Cainap, Ovidiu Balacescu, Simona Sorana Cainap, Laura-Ancuta Pop
Summary: Lung cancer remains one of the most commonly diagnosed and deadly cancers in the world. Early diagnosis is crucial for improving the standard of care. Next generation sequencing has been proven as a helpful tool in early cancer detection, including lung cancer, due to its advantages of low cost, speed, efficacy, low sample usage, and diversity.
Article
Immunology
Yi-Yi Qian, Hong-Yu Wang, Yang Zhou, Hao-Cheng Zhang, Yi-Min Zhu, Xian Zhou, Yue Ying, Peng Cui, Hong-Long Wu, Wen-Hong Zhang, Jia-Lin Jin, Jing-Wen Ai
Summary: Metagenomic next generation sequencing (mNGS) has shown higher sensitivity and better diagnostic performance in detecting pathogens in pulmonary infections, especially for rare and emerging pathogens. It provides reliable phylogenetic and epidemiological information, with a shorter turnaround time, and can complement traditional methods to improve the identification of respiratory infection agents.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Article
Infectious Diseases
Yencheng Chao, Jieyi Li, Ziying Gong, Chun Li, Maosong Ye, Qunying Hong, Xiaokai Zhao, Yonghua Sun, Zhonghai Chen, Shaojie Zhang, Jie Hu, Yong Zhang, Huijun Zhang, Xiaobo Xu, Xinyu Zhang, Dilbar Anwar, Yingyong Hou, Daoyun Zhang, Xin Zhang
Summary: This study established an improved NGS strategy for rapidly distinguishing patients with TB from those with SA, with high sensitivity, specificity, and concordance. The NGS method shows potential clinical benefits in the accurate diagnosis of TB and SA.
INTERNATIONAL JOURNAL OF INFECTIOUS DISEASES
(2021)
Article
Immunology
Jing Wang, Huan Xu, Xi Wang, Jian Lan
Summary: This study retrospectively analyzed the clinical data and treatment outcomes of 12 patients with non-tuberculous mycobacterial pulmonary disease (NTM-PD) using metagenomic next-generation sequencing (mNGS). The results showed that mNGS could rapidly and accurately diagnose NTM-PD and guide the selection of appropriate treatment, thereby improving the prognosis of patients.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Article
Clinical Neurology
Ying Huang, Yulu Liu, Yongguang Liu, Qiang Li, Xuejun Fu, Liangyu Zou, Qianhui Xu
Summary: A 52-year-old HIV-negative woman presented with bilateral painless central vision loss. NGS analysis of the CSF revealed the presence of Treponema and other pathological features related to visual impairment. After appropriate treatment, her vision improved.
Article
Medicine, General & Internal
Fanfan Xing, Yao Xia, Qianyun Lu, Simon K. F. Lo, Susanna K. P. Lau, Patrick C. Y. Woo
Summary: This study reports the first case of fatal Nocardia kroppenstedtii bacteremic pneumonia and empyema thoracis diagnosed by next-generation sequencing using the Oxford Nanopore Technologies' MinION device. The bacterium was not identified by matrix-assisted laser desorption ionization-time of flight mass spectrometry. The Oxford Nanopore Technologies' MinION device is a useful platform for next-generation sequencing in routine clinical microbiology laboratories due to its low equipment cost, short turn-around-time, and portable size.
FRONTIERS IN MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta
Summary: Cerebral Cavernous Malformation (CCM) is a genetic cerebrovascular disease that can cause seizures, neurological deficits, and fatal intracerebral hemorrhage. It is associated with loss-of-function mutations in three genes and may have additional genetic modifiers. A study in Italy identified pathogenic variants in CCM genes in 29% of CCM cases, as well as variants in other genes related to oxidative stress and inflammation.
Article
Immunology
Ying Liu, Huifen Wang, Yaoguang Li, Zujiang Yu
Summary: The study aimed to evaluate the clinical diagnostic value of metagenomic next-generation sequencing (mNGS) for tuberculosis (TB). Retrospective analysis of 52 patients with suspected TB infection was conducted, and multiple detection methods were performed. The results showed that mNGS had a higher detection rate of MTB compared to acid-fast staining and PCR, but no statistical difference with T-SPOT.TB assay. As an adjunctive diagnostic technology, mNGS can be combined with traditional methods to guide the diagnosis and treatment of TB.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2023)
Review
Medicine, General & Internal
Syahzuwan Hassan, Rosnah Bahar, Muhammad Farid Johan, Ezzeddin Kamil Mohamed Hashim, Wan Zaidah Abdullah, Ezalia Esa, Faidatul Syazlin Abdul Hamid, Zefarina Zulkafli
Summary: Thalassemia is a highly heterogeneous disease with over a thousand recorded mutation types worldwide. Conventional PCR-based DNA analysis for thalassemia diagnosis is time-consuming and resource-intensive due to phenotype variability, disease complexity, and test limitations. Advanced molecular techniques such as next-generation sequencing (NGS) and third-generation sequencing (TGS) offer more suitable and valuable options for DNA analysis of thalassemia. The continuous improvement of sequencing methods and bioinformatics tools, particularly for identifying copy number variations and homologous genes, will lead to more accurate thalassemia detection.
Article
Public, Environmental & Occupational Health
Xianghong Liu, Ye Zhang, Jun Zhang, Zheng Lou, Han Xia, Zhijuan Lu
Summary: The study utilized metagenomic next-generation sequencing (mNGS) and other diagnostic methods to identify pathogens in patients suspected of scrub typhus. The results showed that mNGS outperformed traditional diagnostic methods, providing a better early diagnosis of scrub typhus and improving diagnostic accuracy.
FRONTIERS IN PUBLIC HEALTH
(2021)
Article
Microbiology
Madjid Morsli, Christine Zandotti, Aurelie Morand, Philippe Colson, Michel Drancourt
Summary: In this case report, metagenomic next-generation sequencing successfully identified Echovirus 12 as an etiological agent of acute meningitis in pediatric population, highlighting the potential of this method in improving the accuracy of viral diagnosis.