scholarly journals Next Generation Sequencing (NGS) in chromosome translocation 46, XX, t (9; X) (q22; q28) - a case report

2018 ◽  
Author(s):  
Monise Santos ◽  
Ivan Henrique Yoshida ◽  
Caroline Zulim ◽  
Michelli Suemi Tanada ◽  
Emerson Barchi Cordts ◽  
...  
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Chromosome Translocation ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

scholarly journals SARS-CoV-2 as a Trigger in the Development of Tourette’s-Like Symptoms: A Case Report

2021 ◽  
Author(s):  
Sabine Hazan ◽  
Sheldon Jordan
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Gut Microbiota ◽  
Dramatic Improvement ◽  
Next Generation ◽  
Rt Pcr ◽  
Gastrointestinal Microbiota ◽  
Next Generation Sequencing Ngs ◽  
The Impact ◽  
Generation Sequencing

Abstract Background: Reports have been surfacing surrounding CNS-associated symptoms in individuals affected by coronavirus disease 19 (COVID-19). Tourette syndrome is a neuropsychiatric disorder with usual onset in childhood. Gut microbiota can affect central physiology and function via the microbiota-gut-brain axis. The authors of this case report describe Tourette’s-like symptoms in a patient resulting from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection disrupting gut microbiota. Case Presentation: This case involves a 16-year-old female that developed acute onset Tourette’s-like symptoms along with neuropsychiatric symptoms after exposure to and infection from SARS-CoV-2. The patient had negative nasopharyngeal (NP) real-time reverse transcription-PCR (RT-PCR) tests for SARS-CoV-2 on five occasions from August of 2020 through June of 2021. The patient’s symptoms continued to worsen over the next six months until next-generation sequencing (NGS) revealed SARS-CoV-2 in her stool. Her treatment was adjusted as NGS revealed SARS-CoV-2 in her stool. Repair of the gastrointestinal microbiota, treatment with nutraceutical and pharmaceutical agents, as well as alterations in her surroundings resulted in dramatic improvement in the microbiome and a significant reduction of symptoms.Discussion: The use of (RT-PCR) testing to determine the presence or absence of SARS-CoV-2 may be inadequate and inaccurate for individuals that have been exposed to the virus. In addition, the impact of SARS-CoV-2 infection of the GI tract may cause significant havoc in the gut microbiota. Additional testing, eradication of infectious agents, as well as restoration of the gut microbiome are needed to effectively manage and treat this condition. The patient’s symptoms worsened over the next six months until next-generation sequencing (NGS) revealed SARS-CoV-2 in her stool and her treatment was adjusted. Treatment with nutraceuticals and alterations in her surroundings was followed by a more normal microbiome and a dramatic reduction in symptoms.

scholarly journals Next generation sequencing in early diagnosis of pneumocystis jirovecii pneumonia after chemotherapy: a case report

2019 ◽  
Vol 7 (9) ◽  
pp. 3561
Author(s):  
Donghua Zheng ◽  
Kai Chen ◽  
Fang Xiao ◽  
Na Liu
Keyword(s):  
Case Report ◽  
Next Generation Sequencing ◽  
Early Stage ◽  
Severe Pneumonia ◽  
Pneumocystis Pneumonia ◽  
Pneumocystis Jirovecii Pneumonia ◽  
Next Generation ◽  
Pneumocystis Jiroveci ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

The incidence of Pneumocystis pneumonia is increasing in immunosuppressive patients. How to diagnose and treat Pneumocystis pneumonia in the early stage has become an important issue for clinicians. The development of Next-generation Sequencing (NGS) provides technical support for the diagnosis of Pneumocystis pneumonia. Case report: A 14-year-old male patient was diagnosed with T lymphoblastoma and treated with chemotherapy. After chemotherapy, the patient developed bone marrow suppression and was complicated with severe pneumonia. He was given endotracheal intubation and ventilator assisted respiration. Samples of patients' alveolar lavage fluid were obtained, and Next-generation Sequencing (NGS) was used for diagnosis, confirming the pathogen as Pneumocystis jiroveci, which was treated by TMP/SMX. The patient's condition gradually improved, and was finally removed from ventilator and endotracheal tube. Pneumocystis jiroveci is a common opportunistic pathogen in immunosuppressive patients, and Next-generation Sequencing (NGS) can be used for rapid diagnosis of Pneumocystis pneumonia, thus improving the clinical therapeutic effect. 

Initial Next-Generation Sequencing (NGS) Results of Alport Syndrome

2019 ◽  
Author(s):  
Altuğ Koç ◽  
Elçin Bora ◽  
Tayfun Cinleti ◽  
Gizem Yıldız ◽  
Meral Torun Bayram ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Alport Syndrome ◽  
Next Generation ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

The applications of next-generation sequencing (NGS) in drug development for cancer therapy

2020 ◽  
Vol 16 ◽  
Author(s):  
Pelin Telkoparan-Akillilar ◽  
Dilek Cevik
Keyword(s):  
Next Generation Sequencing ◽  
Drug Discovery ◽  
Cancer Therapy ◽  
Target Identification ◽  
Rapid Development ◽  
Next Generation ◽  
Biomedical Sciences ◽  
Dna And Rna ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

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.

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