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

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.

Molecular diagnostics in uro-oncology.

Research on molecular diagnostics in uro-oncology goes along with the development of complex emerging techniques, ranging from the application of next generation sequencing (NGS) platforms to archi..

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

Next-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

Genomic Analysis of Advanced Breast Cancer Using Two Types of Next Generation Sequencing

The aim of this study is to characterize the genomic alterations of advance stage breast cancer using next generation sequencing (NGS) to identify pathways that may be commonly altered in advance stage breast cancer

Pemetrexed treatment for adenocarcinoma of un- known primary origin with BAP-1 mutation – imple- menting NGS analysis into clinical practice

Genome analysis like „Next-generation sequencing“ (NGS) has impacted research of complex diseases including cancer. NGS allowed a cost and time-effective sequencing of tumor DNA, introducing us to a „genomic era“ of cancer research and treatment

The NCI/NIH Cancer Moonshot BioBank (CMB) and the Maine Cancer Genetics/Genomics Education Core (ME-CGEC) Collaborate to Improve Cancer Care in Maine

Goal: To better understand drug resistance and sensitivity in patients with late stage (Stage III & IV) cancers that are receiving standard of care molecularly targeted therapies through next generation sequencing (NGS) of biopsy and blood samples collected longitudinally (diagnosis-- treatment--progression).https://knowledgeconnection.mainehealth.org/lambrew-retreat-2021/1053/thumbnail.jp

Next-generation sequencing (NGS) platforms: An exciting era of genome sequence analysis

© Springer Nature Singapore Pte Ltd. 2019. DNA referred to as blueprint of life codes for the diversity and function of all the living organisms. Determining DNA sequences of the living organisms not only gives an overview of their genetic makeup, but also provides information about their function. Nonetheless it was not easy to determine the genome sequencing of all the diversity around us especially with the technologies available before 2010. Therefore, determining the sequence of humans and some other organisms only was prioritized. Pioneering methods for DNA sequencing given discovered by Maxam and Gilbert, and Sanger although were very powerful and popular but were not high throughput and economic. Therefore, it was necessary to develop new economic and high-throughput methods that can sequence the biodiversity consequently providing better insights of their possible function. New methods were developed and commercialized by Roche Life Sciences, Thermo Fisher Scientific, Illumina, and Applied Biosystems. These methods generally referred to as next-generation sequencing methods have revolutionized the DNA sequencing. Many sequencing platforms employing NGS have been developed including pyrosequencing, Ion Torrent technology, Illumina/Solexa platform, and SOLiD (Sequencing by Oligonucleotide Ligation and Detection). Further optimization has led to innovative third and fourth-generation platforms as single molecule real-time (SMRT) sequencing by PacBio, nanopore sequencing, etc. As a consequence there is a sharp increase in the number of genomes being published and other genome-based studies since 2012. This has made it easy even to imagine of sequencing the genomes of individuals. Furthermore, scientists are now looking for third-generation sequencers that may be significantly different from the sequencers that are currently available

Histiocytic Sarcoma Associated with Coombs Negative Acute Hemolytic Anemia: A Rare Presentation

Histiocytic sarcoma (HS) rarely involves extranodal sites, such as the spleen. We report a unique pediatric case of massive splenomegaly and refractory Coombs negative hemolytic anemia (CNHA) secondary to HS. The CNHA resolved completely after an emergent splenectomy. Next generation sequencing (NGS) revealed novel ASXL1, PTPN11, KIT, and TP53 mutations, unmasking a clonal heterogeneity within the same neoplasm