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Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.
Genet Med
January 2025
Genomics Ethics, and Translational Research Program, RTI International, Research Triangle Park, NC; Department of Translational and Applied Genomics, Kaiser Permanente Center for Health Research, Portland, OR. Electronic address:
Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.
Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.
Characterization and Detection Strategy Exploration in Cryptogenic Hepatocellular Carcinoma: Insights From a Super-Aged Region in Japan.
Cancer Med
January 2025
Division of Gastroenterology and Nephrology, Department of Multidisciplinary Internal Medicine, Faculty of Medicine, Tottori University, Yonago, Japan.
Background And Aim: In recent years, there has been a rise in cryptogenic hepatocellular carcinoma (c-HCC) cases in Japan, posing a detection challenge due to an unknown etiology. This study aims to enhance diagnostic strategies for c-HCC by analyzing its characteristics and exploring current opportunities for detection.
Methods: A retrospective study was conducted from April 2012 to March 2022, enrolling 372 newly diagnosed hepatocellular carcinoma (HCC) patients.
Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.
Circ Genom Precis Med
January 2025
CARIM School for Cardiovascular Diseases (A.I., S.Z., J.W., B.B., H.J.G.M.C., B.H., M.K., S.V., U.S., M.S.), Maastricht University, the Netherlands.
Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.
Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.
Editorial: Steatotic Liver Diseases Emerge as Rapidly Growing Drivers of Primary Liver Cancer in the United States-Author's Reply.
Aliment Pharmacol Ther
January 2025
Division of Gastroenterology and Hepatology, Department of Medicine, University of Arizona College of Medicine, Phoenix, Arizona, USA.
Semiparametric estimator for the covariate-specific receiver operating characteristic curve.
Stat Methods Med Res
January 2025
CITMAga and Department of Statistics and Operations Research, Universidade de Vigo, Vigo, Galicia, Spain.
The study of the predictive ability of a marker is mainly based on the accuracy measures provided by the so-called confusion matrix. Besides, the area under the receiver operating characteristic curve has become a popular index for summarizing the overall accuracy of a marker. However, the nature of the relationship between the marker and the outcome, and the role that potential confounders play in this relationship could be fundamental in order to extrapolate the observed results.
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