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http://dx.doi.org/10.5694/mja2.50608 | DOI Listing |
J Am Soc Nephrol
September 2025
Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA.
Background: Genetic modifiers are believed to play an important role in the onset and severity of polycystic kidney disease (PKD), but identifying these modifiers has been challenging due to the lack of effective methodologies.
Methods: We generated zebrafish mutants of IFT140, a skeletal ciliopathy gene and newly identified autosomal dominant PKD (ADPKD) gene, to examine skeletal development and kidney cyst formation in larval and juvenile mutants. Additionally, we utilized ift140 crispants, generated through efficient microhomology-mediated end joining (MMEJ)-based genome editing, to compare phenotypes with mutants and conduct a pilot genetic modifier screen.
Clin J Am Soc Nephrol
September 2025
University College London Great Ormond Street Hospital for Children and Institute of Child Health, London, UK.
Background: Experience with icodextrin use in children on long-term peritoneal dialysis is limited. We describe international icodextrin prescription practices and their impact on clinical outcomes: ultrafiltration, blood pressure control, residual kidney function (RKF), technique and patient survival.
Methods: We included patients under 21 years enrolled in the International Pediatric Peritoneal Dialysis Network (IPPN) between 2007 and 2024, on automated PD with a daytime dwell.
J Clin Invest
September 2025
The University of Texas at Austin, Austin, United States of America.
Background: Following SARS-CoV-2 infection, ~10-35% of COVID-19 patients experience long COVID (LC), in which debilitating symptoms persist for at least three months. Elucidating biologic underpinnings of LC could identify therapeutic opportunities.
Methods: We utilized machine learning methods on biologic analytes provided over 12-months after hospital discharge from >500 COVID-19 patients in the IMPACC cohort to identify a multi-omics "recovery factor", trained on patient-reported physical function survey scores.
Proc Natl Acad Sci U S A
September 2025
Centre for Experimental Medicine & Rheumatology, William Harvey Research Institute and Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, United Kingdom.
MS4A4A belongs to the MS4A tetraspan protein superfamily and is selectively expressed by the monocyte-macrophage lineage. In this study, we aimed to evaluate the role of MS4A4A+ macrophages in rheumatoid arthritis (RA) pathogenesis and response to treatment. RNA sequencing and immunohistochemistry of synovial samples from either early treatment-naïve or active chronic RA patients showed that MS4A4A expression positively correlated with synovial inflammation.
View Article and Find Full Text PDFJAMA Netw Open
September 2025
Perinatal Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Importance: Exposure to inflammation from chorioamnionitis places the fetus at higher risk of premature birth and may increase the risk of neurodevelopmental impairments, though the evidence for the latter is mixed.
Objective: To evaluate whether moderate to severe histologic chorioamnionitis (HCA) is directly associated with adverse motor performance, independent of the indirect mediating effects of premature birth.
Design, Setting, And Participants: This prospective, population-based cohort study recruited participants between September 16, 2016, and November 19, 2019, from referral and nonreferral neonatal intensive care units of 5 southwestern Ohio hospitals.