Leptospirosis is a zoonotic infection with public health implications and diverse clinical presentations, ranging from mild symptoms to severe, life-threatening disease. In critical cases, it can cause multiorgan failure and death. Diagnosis is typically based on clinical suspicion and confirmed by laboratory testing. However, in acute, life-threatening cases, obtaining a history of exposure and recognizing early symptoms may be challenging. Traditional diagnostic methods for identifying causative pathogens are time-consuming and limited. Next-generation sequencing (NGS) has emerged as a novel diagnostic tool that identifies pathogens using DNA or RNA from bodily fluids, offering more timely, unbiased results, especially for fastidious or non-culturable organisms.
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http://dx.doi.org/10.1016/j.jiph.2025.102727 | DOI Listing |
Funct Integr Genomics
March 2025
Department of Orthopedics, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Osteosarcoma is the most common bone tumor and a highly aggressive malignant neoplasm. This study aims to elucidate the role of lactylation-related genes (LRGs) in osteosarcoma, with the goal of improving prognostic accuracy and enhancing the efficacy of immunotherapy. Using public datasets, we integrated differential and correlated genes based on single-cell sequencing AUCell scores and performed enrichment analysis and risk model construction on these genes.
View Article and Find Full Text PDFEpileptic Disord
March 2025
Division of Child Neurology, Department of Pediatrics, Ege University Medical Faculty, Izmir, Turkey.
Objective: To evaluate the significance of genetic testing in neonatal- and infantile-onset genetic epilepsies (NIGEP) for enhanced molecular diagnosis with management implications.
Methods: A single-center cohort of 128 patients with NIGEP (aged 0-36 months) from 2010 to 2022 was retrospectively assessed. The diagnostic utility of genetic testing, including next-generation sequencing (NGS) and chromosome-based approaches, was surveyed to determine their impact on antiseizure medication adjustments and precision medicine.
Emerg Microbes Infect
March 2025
Department of Clinical Laboratory, The Second Affiliated Hospital of Soochow University, Suzhou, Jiangsu, China.
The emergence of carbapenem-resistant (CREC) poses crucial challenges in clinical management, requiring continuous monitoring to inform control and treatment strategies. This study aimed to investigate the genomic and epidemiological characteristics of CREC isolates obtained from a tertiary hospital in China between 2015 and 2022. Next-generation sequencing was used for genomic profiling, and clinical data from patients were integrated into the analysis.
View Article and Find Full Text PDFNucleic Acids Res
February 2025
Department of Statistics and Data Science, Northwestern University, 633 Clark Street, Evanston, IL 60208, United States.
Loop-seq is a pioneering high-throughput assay that enables the simultaneous quantification of intrinsic cyclizability across a large set of DNA fragments. However, the assay's reliance on biotin-tethered elongated DNA fragments introduces a tethering effect, leading to biased cyclizability measurements. We demonstrate that the current de-biasing technique is inadequate for fully mitigating this bias.
View Article and Find Full Text PDFPurpose Of Review: Genomic and transcriptomic sequencing technologies have revolutionized our ability to characterize prostate cancer at the molecular level. The underlying premise of next-generation sequencing technologies and their current and evolving applications in prostate cancer management are provided in the review.
Recent Findings: Improved methodologies are allowing timely sequencing of the coding regions or both the coding and noncoding regions of the genome to help identify potential mutations and structural variations in the prostate cancer genome, some of which are currently also targetable therapeutically.
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