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An analysis of multilevel factor contributions to breast cancer screening inequities in an academic health system.
Cancer
February 2025
General Medicine Service, VA Puget Sound Health Care System, Seattle, Washington, USA.
Background: Breast cancer screening (BCS) inequities are evident at national and local levels, and many health systems want to address these inequities, but may lack data about contributing factors. The objective of this study was to inform health system interventions through an exploratory analysis of potential multilevel contributors to BCS inequities using health system data.
Methods: The authors conducted a cross-sectional analysis within a large academic health system including 19,774 individuals who identified as Black (n = 1445) or White (n = 18,329) race and were eligible for BCS.
Point-of-care nucleic acid testing - a step forward in controlling the HIV epidemic: A review.
HIV Med
January 2025
Centre for Immunology and Vaccinology, Imperial College London, London, UK.
Introduction: The HIV/AIDS epidemic, with 85.6 million infections and 40.4 million AIDS-related deaths globally, remains a critical public health challenge.
View Article and Find Full Text PDFEarly Severe Cortical Involvement and Novel FUCA1 Mutations in a Pediatric Fucosidosis Case.
Mol Genet Genomic Med
February 2025
Department of Pediatric Neurology, Hospital Universitario Quirónsalud, Madrid, Spain.
Background: Biallelic pathogenic variants in the FUCA1 gene are associated with fucosidosis. This report describes a 4-year-old boy presenting with psychomotor regression, spasticity, and dystonic postures.
Methods And Results: Trio-based whole exome sequencing revealed two previously unreported loss-of-function variants in the FUCA1 gene.
Progressive Approaches in Oncological Diagnosis and Surveillance: Real-Time Impedance-Based Techniques and Advanced Algorithms.
Bioelectromagnetics
January 2025
Micropropulsion and Nanotechnology Laboratory, School of Engineering and Applied Science, George Washington University, Washington, DC, USA.
Cancer remains a formidable global health challenge, necessitating the development of innovative diagnostic techniques capable of early detection and differentiation of tumor/cancerous cells from their healthy counterparts. This review focuses on the confluence of advanced computational algorithms with noninvasive, label-free impedance-based biophysical methodologies-techniques that assess biological processes directly without the need for external markers or dyes. This review elucidates a diverse array of state-of-the-art impedance-based technologies, illuminating distinct electrical signatures inherent to cancer vs healthy tissues.
View Article and Find Full Text PDFAdvances in Prenatal Cell-Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation.
Prenat Diagn
January 2025
Key Laboratory of Reproductive Genetics (Ministry of Education) and Department of Reproductive Endocrinology, Women's Hospital, School of Medicine, Zhejiang University, Hangzhou, China.
Prenatal cell-free DNA (cfDNA) screening has advanced significantly, extending beyond detecting aneuploidies to sub-chromosomal copy number variations. However, its application for screening dominant single-gene conditions, often caused by de novo variants, remains underutilized in the general obstetric population. This study reviews recent data and experience on prenatal cfDNA screening for dominant monogenic conditions using multiple-gene panels, highlighting its potential to enhance early detection and management of genetic disorders.
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