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http://dx.doi.org/10.1007/s12519-022-00528-2 | DOI Listing |
Analyst
August 2025
School of Natural Sciences, Macquarie University, Sydney, NSW 2109, Australia.
Gene-specific DNA methylation is associated with the progression of various cancers. Thus, accurate identification of this epigenetic alteration is of great interest. In this study, we particularly focused on the use of surface-enhanced Raman scattering (SERS) for detecting methylation in the promoter region of the hMLH1 gene found in cancer cells.
View Article and Find Full Text PDFFront Genet
July 2025
Photonics Research Centre, Shenzhen University, Shenzhen, China.
Background: Thalassemia is a common hereditary blood disorder caused by genetic variants in globin genes, leading to abnormal hemoglobin production. Rapid and accurate genotyping is essential for molecular screening and prenatal genetic diagnosis to prevent the birth of individuals with severe forms of the disease.
Methods: We developed a multiplex PCR-capillary electrophoresis fragment analysis (mPCR-CEFA) method to detect 16 α-thalassemia and 24 β-thalassemia genotypes simultaneously.
Thorax
June 2025
Department of Population Medicine, Harvard Medical School / Harvard Pilgrim Health Care Institute, Boston, Massachusetts, USA
Background: The diagnosis and management of pneumonia is often challenging due to its overlapping clinical presentations with other respiratory illnesses, low pathogen identification rates, and slow turnaround time of conventional bacterial cultures. These factors contribute to both inadequate empiric therapy and overuse of broad-spectrum antibiotics, which can negatively impact outcomes. Recently, multiplex polymerase chain reaction (mPCR) assays capable of rapidly detecting multiple bacterial respiratory pathogens and resistance genes have emerged.
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
April 2025
Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Purpose: To investigate the sensitivity and specificity of herpes virus detection by nanopore metagenomic analysis (NMA) compared with multiplex polymerase chain reaction (mPCR)-positive and -negative controls.
Methods: This study included 43 patients with uveitis who had been screened for intraocular herpes virus infection using mPCR from aqueous humor samples. Aqueous humor samples stored after mPCR were subjected to whole-genome amplification, long-read sequencing, and analysis of the phylogenetic microorganism composition using a Flongle flow cell on the Oxford Nanopore MinION platform.
Ann Surg Oncol
July 2025
Department of Surgery, Duke University, Durham, NC, USA.
Background: Adjuvant therapies reduce recurrence in patients with clinical stage IIB/IIC/III melanoma; however, better risk stratification and patient selection are needed. Circulating tumor DNA (ctDNA) as a marker of micrometastatic residual disease is being explored for such purposes in other malignancies. We aimed to explore the feasibility of serial ctDNA monitoring in patients with stage II/III melanoma, as well as the association of ctDNA elevation with disease burden and outcomes.
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