[This corrects the article DOI: 10.1371/journal.pone.0273280.].
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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0306687 | PLOS |
J Surg Oncol
January 2025
Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, and Department of Epidemiology, University of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Background And Objectives: Identification of colorectal cancer (CRC) patients at high risk of recurrence could be of substantial clinical use. We evaluated the association of ctDNA status, using a tumor-informed assay, with recurrence-free survival (RFS).
Methods: Stage III CRC patients were enrolled between 2016 and 2020.
Orphanet J Rare Dis
January 2025
Department of Translational Medicine, University of Naples "Federico II", Naples, Italy.
Background: Newborn screening (NBS) programs have significantly improved the health and outcomes of patients with inherited metabolic disorders (IMDs). Methods based on liquid chromatography/mass spectrometry (LC-MS/MS) analysis are viewed worldwide as the gold standard procedure for the expanded NBS programs for these disorders. Advanced molecular technologies point to genomic sequencing as an alternative and feasible strategy for the screening of genetic diseases, including IMDs.
View Article and Find Full Text PDFSci Rep
January 2025
Ningxia Eye Hospital, People's Hospital of Ningxia Hui Autonomous Region, Ningxia Medical University, 936 Huanghe East Road, Jinfeng District, Yinchuan, 750004, China.
In this study, patients with inherited retinal dystrophies (IRDs) who visited Ningxia Eye Hospital from January 2015 to September 2023 were analyzed. Through Whole Exome Sequencing (WES) and Sanger verification, 17 probands carrying homozygous variants were detected. The association between the genotype and clinical phenotype of patients with homozygous variants was analyzed.
View Article and Find Full Text PDFZhonghua Er Ke Za Zhi
February 2025
Department of Emergency, Xi'an Children's Hospital, Xi'an 710003, China.
To explore clinical and genetic features of persistent asymptomatic microscopic hematuria in children. A retrospective case analysis of 135 individuals admitted to Xi 'an Children's Hospital with persistent asymptomatic microscopic haematuria between January 2016 to December 2023 was conducted. The demographic characteristics, kidney pathology and gene results of 135 individuals were analyzed.
View Article and Find Full Text PDFBiochem Genet
January 2025
Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, University of Tabuk, King Faisel Road, 7149, Tabuk, Saudi Arabia.
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