scholarly journals PCORI COVID-19 Scan: Next-Generation Sequencing Assays, Point-of-Care Breath Test (August 6-August 19, 2020)

2020 ◽  
Author(s):  
Damian Carlson ◽  
Christian Cuevas ◽  
Jennifer De Lurio ◽  
Andrew Furman ◽  
Randy Hulshizer ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Breath Test ◽  
Point Of Care ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Haemophilus influenzae Meningitis Direct Diagnosis by Metagenomic Next-Generation Sequencing: A Case Report

Pathogens ◽  
2021 ◽  
Vol 10 (4) ◽  
pp. 461
Author(s):  
Madjid Morsli ◽  
Quentin Kerharo ◽  
Jeremy Delerce ◽  
Pierre-Hugues Roche ◽  
Lucas Troude ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Haemophilus Influenzae ◽  
Real Time ◽  
Real Time Pcr ◽  
Point Of Care ◽  
Next Generation ◽  
Oxford Nanopore ◽  
Sequence Encoding ◽  
Oxford Nanopore Technologies ◽  
Generation Sequencing

Current routine real-time PCR methods used for the point-of-care diagnosis of infectious meningitis do not allow for one-shot genotyping of the pathogen, as in the case of deadly Haemophilus influenzae meningitis. Real-time PCR diagnosed H. influenzae meningitis in a 22-year-old male patient, during his hospitalisation following a more than six-metre fall. Using an Oxford Nanopore Technologies real-time sequencing run in parallel to real-time PCR, we detected the H. influenzae genome directly from the cerebrospinal fluid sample in six hours. Furthermore, BLAST analysis of the sequence encoding for a partial DUF417 domain-containing protein diagnosed a non-b serotype, non-typeable H.influenzae belonging to lineage H. influenzae 22.1-21. The Oxford Nanopore metagenomic next-generation sequencing approach could be considered for the point-of-care diagnosis of infectious meningitis, by direct identification of pathogenic genomes and their genotypes/serotypes.

scholarly journals Direct Diagnosis of Echovirus 12 Meningitis Using Metagenomic Next Generation Sequencing

Pathogens ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 610
Author(s):  
Madjid Morsli ◽  
Christine Zandotti ◽  
Aurelie Morand ◽  
Philippe Colson ◽  
Michel Drancourt
Keyword(s):  
Cerebrospinal Fluid ◽  
Case Report ◽  
Next Generation Sequencing ◽  
Point Of Care ◽  
Pediatric Population ◽  
Next Generation ◽  
Viral Genotype ◽  
Acute Meningitis ◽  
Current Point ◽  
Generation Sequencing

The current point-of-care diagnosis of enterovirus meningitis does not identify the viral genotype, which is prognostic. In this case report, more than 81% of an Echovirus 12 genome were detected and identified by metagenomic next-generation sequencing, directly from the cerebrospinal fluid collected in a 6-month-old child with meningeal syndrome and meningitis: introducing Echovirus 12 as an etiological agent of acute meningitis in the pediatric population.

Labordiagnostik bei gastrointestinalen Tumoren

2020 ◽  
Vol 11 (05) ◽  
pp. 232-238
Author(s):  
Marcus Kleber
Keyword(s):  
Next Generation Sequencing ◽  
Kolorektales Karzinom ◽  
Next Generation ◽  
Generation Sequencing

ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

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