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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.
Effects of the Transcutaneous Electrical Stimulation System on Heartburn, Regurgitation and Esophageal Acid Exposure in GERD Patients-An Uncontrolled Feasibility Study.
Neurogastroenterol Motil
January 2025
Division of Gastroenterology, Rabin Medical Center, Beilinson Campus, Petah Tikva, Israel.
Background: Proton pump inhibitors (PPI) for gastroesophageal reflux disease (GERD) are associated with a high failure rate. Our uncontrolled feasibility study aimed determining the effect of a transcutaneous electrical stimulation system (TESS) on GERD symptoms and acid exposure time (AET).
Methods: Recruited patients with heartburn and regurgitation.
Anti-arthritic potential of crude sulfated polysaccharide from marine macroalgae (Turner) C. Agardh: Regulation of cytokine cascade.
Biomol Concepts
January 2025
Division of Pharmacology, School of Medical and Life Sciences, Sunway University, No. 5, Jalan Universiti, Bandar Sunway, 47500 Selangor Darul Ehsan, Malaysia.
Seaweeds have been utilized as food, fodder, fertilizer, and medicine since ancient times; nevertheless, they have received only a little attention. In the current work, we extracted the sulfated polysaccharide from a marine source and investigated its anti-arthritic potential . The isolated and freeze-dried polysaccharide was tested for acute oral toxicity based on OECD 423.
View Article and Find Full Text PDFNEDD4-Mediated GSNOR Degradation Aggravates Cardiac Hypertrophy and Dysfunction.
Circ Res
January 2025
Key Laboratory of Drug Targets and Translational Medicine for Cardio-cerebrovascular Diseases, Key Laboratory of Targeted Intervention of Cardiovascular Disease, Collaborative Innovation Center for Cardiovascular Disease Translational Medicine, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou Municipal Hospital, Gusu School, Nanjing Medical University, Jiangsu, China (X.T., X.L., X.S., Y. Zhang, Y. Zu, Q.F., L.H., S.S., F.C., L.X., Y.J.).
Background: The decrease in S-nitrosoglutathione reductase (GSNOR) leads to an elevation of S-nitrosylation, thereby exacerbating the progression of cardiomyopathy in response to hemodynamic stress. However, the mechanisms under GSNOR decrease remain unclear. Here, we identify NEDD4 (neuronal precursor cell expressed developmentally downregulated 4) as a novel molecule that plays a crucial role in the pathogenesis of pressure overload-induced cardiac hypertrophy, by modulating GSNOR levels, thereby demonstrating significant therapeutic potential.
View Article and Find Full Text PDFDifferential Risk Profiles of Incident Abdominal Aortic Aneurysms in Specific Subgroups: A Large Cohort-based Study.
Ann Surg
January 2025
Hubei Key Laboratory of Ischemic Cardiovascular Disease, Yichang, China.
Objective: The aim of this study is to explore the risk profiles associated with Abdominal aortic aneurysm (AAA) incidence in both the general population and diverse subpopulations.
Summary Background Data: AAA is a life-threatening arterial disease, and there is limited understanding of its etiological spectrum across the age, sex, and genetic risk subgroups, making early prevention efforts more complicated.
Methods: This study encompassed a sample size of 364399 participants from the UK.
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