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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.
Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study.
ACR Open Rheumatol
January 2025
Sidney Kimmel Medical College at Thomas Jefferson University and Jefferson Einstein Hospital, Philadelphia, Pennsylvania.
Objective: Systemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.
View Article and Find Full Text PDFComprehensive Analysis Reveals the Potential Diagnostic Value of Biomarkers Associated With Aging and Circadian Rhythm in Knee Osteoarthritis.
Orthop Surg
January 2025
Department of Orthopedics, Tianjin Medical University General Hospital, International Science and Technology Cooperation Base of Spinal Cord Injury, Tianjin Key Laboratory of Spine and Spinal Cord, Tianjin, China.
Objective: Knee osteoarthritis (KOA) is characterized by structural changes. Aging is a major risk factor for KOA. Therefore, the objective of this study was to examine the role of genes related to aging and circadian rhythms in KOA.
View Article and Find Full Text PDFAnti-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 PDFIdentification of novel rodent and shrew orthohepeviruses sheds light on hepatitis E virus evolution.
Zool Res
January 2025
Institute of Preventive Medicine, School of Public Health, Dali University, Yunnan Key Laboratory of Screening and Research on Anti-pathogenic Plant Resources from Western Yunnan, Yunnan Key Laboratory of Zoonotic Disease Cross-border Prevention and Quarantine, Dali, Yunnan 671000, China. E-mail:
The family has seen an explosive expansion in its host range in recent years, yet the evolutionary trajectory of this zoonotic pathogen remains largely unknown. The emergence of rat hepatitis E virus (HEV) has introduced a new public health threat due to its potential for zoonotic transmission. This study investigated 2 464 wild small mammals spanning four animal orders, eight families, 21 genera, and 37 species in Yunnan Province, China.
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