scholarly journals Mycobacteriummucogenicum and Klebsiellapneumoniae Pulmonary Infection in a Patient Following Cardiac Surgery: A Case Report

2021 ◽  
Vol 14 (2) ◽  
Author(s):  
Zhi-peng Wen ◽  
Chun-li Xu ◽  
Qin Li ◽  
Zhi-chang Zheng ◽  
Ji-hong Yang ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Next Generation Sequencing ◽  
Pulmonary Infection ◽  
Case Reports ◽  
Next Generation ◽  
Next Generation Sequencing Technology ◽  
Appropriate Treatment ◽  
Pulmonary Arterial ◽  
Generation Sequencing ◽  
Mycobacterium Mucogenicum

Introduction: Mycobacterium mucogenicum belongs to the rapidly growing mycobacteria, and it is a rare conditional pathogen. Although recent studies suggested that the incidence of M. mucogenicum infection was increased worldwide, there are no case reports of M. mucogenicum and Klebsiella pneumoniae pulmonary infection. Case Presentation: A 32-year-old non-smoking male was diagnosed with congenital atrial septal defect and pulmonary arterial hypertension. After cardiac surgery, lung infections were observed in the patient and then rapidly developed acute respiratory distress syndrome. The cefoperazone and sulbactam, vancomycin, ceftazidime, carbapenem, tigecycline, and micafungin were used for the treatment of pulmonary infection but did not affect. Ultimately, M. mucogenicum and K. pneumoniae were identified as pathogens by using next-generation sequencing. The patient was treated successfully with the administration of clarithromycin, linezolid, tigecycline, and ceftazidime-avibactam. The clinical outcome of this patient was favorable without relapse of infection. Conclusions: This case demonstrates that M. mucogenicum pulmonary infection may result in severe outcomes. The next-generation sequencing technology is important for the identification of M. mucogenicum. Additionally, the clinicians and clinical pharmacists should remain awareness in dealing with M. mucogenicum infection to avoid delaying appropriate treatment.

A Novel Method for Microsatellite Instability Detection by Liquid Biopsy Based on Next- Generation Sequencing

2020 ◽  
Vol 15 ◽  
Author(s):  
Zheng Jiang ◽  
Hui Liu ◽  
Siwen Zhang ◽  
Jia Liu ◽  
Weitao Wang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Microsatellite Instability ◽  
Liquid Biopsy ◽  
Tumor Tissue ◽  
High Sensitivity ◽  
Next Generation ◽  
Tissue Samples ◽  
Next Generation Sequencing Technology ◽  
Medication Selection ◽  
Generation Sequencing

Background: Microsatellite instability (MSI) is a prognostic biomarker used to guide medication selection in multiple cancers, such as colorectal cancer. Traditional PCR with capillary electrophoresis and next-generation sequencing using paired tumor tissue and leukocyte samples are the main approaches for MSI detection due to their high sensitivity and specificity. Currently, patient tissue samples are obtained through puncture or surgery, which causes injury and risk of concurrent disease, further illustrating the need for MSI detection by liquid biopsy. Methods: We propose an analytic method using paired plasma/leukocyte samples and MSI detection using next-generation sequencing technology. Based on the theoretical progress of oncogenesis, we hypothesized that the microsatellite site length in plasma equals the combination of the distribution of tumor tissue and leukocytes. Thus, we defined a window-judgement method to identify whether biomarkers were stable. Results: Compared to traditional PCR as the standard, we evaluated three methods in 20 samples (MSI-H:3/MSS:17): peak shifting method using tissue vs. leukocytes, peak shifting method using plasma vs. leukocytes, and our method using plasma vs. leukocytes. Compared to traditional PCR, we observed a sensitivity of 100%, 0%, and 100%, and a specificity of 100.00%, 94.12%, and 88.24%, respectively. Conclusion: Our method has the advantage of possibly detecting MSI in a liquid biopsy and provides a novel direction for future studies to increase the specificity of the method.

Molecular marker information from de novo assembled transcriptomes of chilli pepper (Capsicum annuum L.) varieties based on next-generation sequencing technology

2014 ◽  
Vol 12 (S1) ◽  
pp. S83-S86 ◽  
Author(s):  
Yul-Kyun Ahn ◽  
Swati Tripathi ◽  
Young-Il Cho ◽  
Jeong-Ho Kim ◽  
Hye-Eun Lee ◽  
...  
Keyword(s):  
Molecular Markers ◽  
Next Generation Sequencing ◽  
De Novo ◽  
Transcriptome Assembly ◽  
Sequence Variant ◽  
Nucleotide Polymorphisms ◽  
Next Generation ◽  
Chilli Pepper ◽  
Next Generation Sequencing Technology ◽  
Generation Sequencing

Next-generation sequencing technique has been known as a useful tool for de novo transcriptome assembly, functional annotation of genes and identification of molecular markers. This study was carried out to mine molecular markers from de novo assembled transcriptomes of four chilli pepper varieties, the highly pungent ‘Saengryeg 211’ and non-pungent ‘Saengryeg 213’ and variably pigmented ‘Mandarin’ and ‘Blackcluster’. Pyrosequencing of the complementary DNA library resulted in 361,671, 274,269, 279,221, and 316,357 raw reads, which were assembled in 23,607, 19,894, 18,340 and 20,357 contigs, for the four varieties, respectively. Detailed sequence variant analysis identified numerous potential single-nucleotide polymorphisms (SNPs) and simple sequence repeats (SSRs) for all the varieties for which the primers were designed. The transcriptome information and SNP/SSR markers generated in this study provide valuable resources for high-density molecular genetic mapping in chilli pepper and Quantitative trait loci analysis related to fruit qualities. These markers for pepper will be highly valuable for marker-assisted breeding and other genetic studies.

scholarly journals Next-Generation Sequencing in Early Diagnosis of Dent Disease 1: Two Case Reports

2018 ◽  
Vol 5 ◽  
Author(s):  
Min Wen ◽  
Tian Shen ◽  
Ying Wang ◽  
Yongzhen Li ◽  
Xiaoliu Shi ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Early Diagnosis ◽  
Case Reports ◽  
Dent Disease ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Emerging roles for nucleoporins in reproductive cellular physiology

2019 ◽  
Vol 97 (4) ◽  
pp. 257-264
Author(s):  
Claudia C. Preston ◽  
Emily C. Storm ◽  
Riley J. Leonard ◽  
Randolph S. Faustino
Keyword(s):  
Next Generation Sequencing ◽  
Nucleocytoplasmic Transport ◽  
Human Reproduction ◽  
Nuclear Pore ◽  
Next Generation ◽  
Nuclear Trafficking ◽  
Next Generation Sequencing Technology ◽  
Powerful Approach ◽  
Reproductive Disease ◽  
Generation Sequencing

Nucleoporins are a specialized subset of nuclear proteins that comprise the nuclear pore complex and regulate nucleocytoplasmic transport. Recent demonstrations of roles for individual nucleoporins in multiple paradigms of differentiation via mechanisms independent of nuclear trafficking represent conceptual advances in understanding the contributions of nucleoporins to cellular development. Among these, a functional role for nucleoporins in reproductive fitness and gametogenesis has been identified, supported by robust models and clinical studies that leverage the power of next generation sequencing technology to identify reproductive-disease-associated mutations in specific nucleoporins. Proper nucleoporin function manifests in different ways during oogenesis and spermatogenesis. However, nonhuman models of gametogenesis may not recapitulate human mechanisms, which may confound translational interpretation and relevance. To circumvent these limitations, identification of reproductive pathologies in patients, combined with next generation sequencing approaches and advanced in silico tools, offers a powerful approach to investigate the potential function of nucleoporins in human reproduction. Ultimately, elucidating the role of nucleoporins in reproductive biology will provide opportunities for predictive, diagnostic, and therapeutic strategies to address reproductive disorders.

scholarly journals Targeted Next Generation Sequencing (NGS) to Diagnose Hereditary Hemolytic Anemias

2020 ◽  
Author(s):  
Rishab Bharadwaj ◽  
Thulasi Raman ◽  
Ravikumar Thangadorai ◽  
Deenadayalan Munirathnam
Keyword(s):  
Next Generation Sequencing ◽  
Gene Sequencing ◽  
Accurate Diagnosis ◽  
Next Generation ◽  
Diagnostic Challenge ◽  
Targeted Next Generation Sequencing ◽  
Appropriate Treatment ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Hereditary hemolytic anemias present a unique diagnostic challenge due to their wide phenotypic and genotypic spectrum. Accurate diagnosis is essential to ensure appropriate treatment. We report two cases, which presented as hemolytic anemias, but initial workup was inconclusive and they were finally diagnosed with the help of Next Generation Sequencing (Dehydrated Hereditary Stomatocytosis and Kӧln Hemoglobinopathy). The introduction of gene sequencing to aid diagnosis of these disorders is a revolutionary step forward and should be incorporated earlier in the workup of such patients.

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