Next generation sequencing-guided anti-infective therapy of large liver abscess due to Edwardsiella tarda: a case report

2019 ◽  
Vol 43 (4) ◽  
pp. 210-213
Author(s):  
Zhong-Zheng Zhu ◽  
Jiayi Zhu ◽  
Kexuan Zhu ◽  
Hui Wang ◽  
Qing Xu ◽  
...  

Abstract Background Liver abscess is a potentially fatal disease, however identification of its causative pathogen remains challenging, which is crucial for guiding appropriate antibiotic therapy. To the best of our knowledge, the use of plasma next-generation sequencing (NGS) based pathogen analysis in patients with liver abscess has never been reported. Case presentation We report a case with large liver abscess due to Edwardsiella tarda that was diagnosed by the plasma-based NGS assay within 24 h. After a 2-week single agent anti-infection therapy, the patient completely recovered. A second NGS assay following anti-infection therapy failed to detect the pathogenic DNA. Follow-up magnetic resonance imaging (MRI) of the abdomen on 1 month and 3 months showed a gradually decrease in size of the liver abscess, and the 6-month MRI showed that the abscess disappeared completely. Conclusions Our data indicated that the plasma NGS test can sensitively and minimal-invasively detect pathogens within a clinically actionable timeframe, and antibiotic alone is an alternative to first-line treatment for large liver abscess with the aid of NGS for accurate detection of the pathogenic bacterial genome.

2019 ◽  
Vol 5 (5) ◽  
pp. e352 ◽  
Author(s):  
Anna Rubegni ◽  
Alessandro Malandrini ◽  
Claudia Dosi ◽  
Guja Astrea ◽  
Jacopo Baldacci ◽  
...  

ObjectiveNext-generation sequencing (NGS) was applied in molecularly undiagnosed asymptomatic or paucisymptomatic hyperCKemia to investigate whether this technique might allow detection of the genetic basis of the condition.MethodsSixty-six patients with undiagnosed asymptomatic or paucisymptomatic hyperCKemia, referred to tertiary neuromuscular centers over an approximately 2-year period, were analyzed using a customized, targeted sequencing panel able to investigate the coding exons and flanking intronic regions of 78 genes associated with limb-girdle muscular dystrophies, rhabdomyolysis, and metabolic and distal myopathies.ResultsA molecular diagnosis was reached in 33 cases, corresponding to a positive diagnostic yield of 50%. Variants of unknown significance were found in 17 patients (26%), whereas 16 cases (24%) remained molecularly undefined. The major features of the diagnosed cases were mild proximal muscle weakness (found in 27%) and myalgia (in 24%). Fourteen patients with a molecular diagnosis and mild myopathic features on muscle biopsy remained asymptomatic at a 24-month follow-up.ConclusionsThis study of patients with undiagnosed hyperCKemia, highlighting the advantages of NGS used as a first-tier diagnostic approach in genetically heterogeneous conditions, illustrates the ongoing evolution of molecular diagnosis in the field of clinical neurology. Isolated hyperCKemia can be the sole feature alerting to a progressive muscular disorder requiring careful surveillance.


Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  

2020 ◽  
Vol 16 ◽  
Author(s):  
Pelin Telkoparan-Akillilar ◽  
Dilek Cevik

Background: Numerous sequencing techniques have been progressed since the 1960s with the rapid development of molecular biology studies focusing on DNA and RNA. Methods: a great number of articles, book chapters, websites are reviewed, and the studies covering NGS history, technology and applications to cancer therapy are included in the present article. Results: High throughput next-generation sequencing (NGS) technologies offer many advantages over classical Sanger sequencing with decreasing cost per base and increasing sequencing efficiency. NGS technologies are combined with bioinformatics software to sequence genomes to be used in diagnostics, transcriptomics, epidemiologic and clinical trials in biomedical sciences. The NGS technology has also been successfully used in drug discovery for the treatment of different cancer types. Conclusion: This review focuses on current and potential applications of NGS in various stages of drug discovery process, from target identification through to personalized medicine.


Diagnostics ◽  
2020 ◽  
Vol 10 (11) ◽  
pp. 962
Author(s):  
Dario de Biase ◽  
Matteo Fassan ◽  
Umberto Malapelle

Next-Generation Sequencing (NGS) allows for the sequencing of multiple genes at a very high depth of coverage [...]


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