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Progress and prospects in antisense oligonucleotide-mediated exon skipping therapies for Duchenne muscular dystrophy.
J Muscle Res Cell Motil
January 2025
Institute of Developmental and Regenerative Medicine, University of Oxford, IMS-Tetsuya Nakamura Building, Old Road Campus, Roosevelt Dr, Headington, Oxford, OX3 7TY, UK.
Recent years have seen enormous progress in the field of advanced therapeutics for the progressive muscle wasting disease Duchenne muscular dystrophy (DMD). In particular, four antisense oligonucleotide (ASO) therapies targeting various DMD-causing mutations have achieved FDA approval, marking major milestones in the treatment of this disease. These compounds are designed to induce alternative splicing events that restore the translation reading frame of the dystrophin gene, leading to the generation of internally-deleted, but mostly functional, pseudodystrophin proteins with the potential to compensate for the genetic loss of dystrophin.
View Article and Find Full Text PDFLow-coverage whole genome sequencing of low-grade dysplasia strongly predicts advanced neoplasia risk in ulcerative colitis.
Gut
January 2025
Barts Cancer Institute, Queen Mary University of London, London, UK
Background: The risk of developing advanced neoplasia (AN; colorectal cancer and/or high-grade dysplasia) in ulcerative colitis (UC) patients with a low-grade dysplasia (LGD) lesion is variable and difficult to predict. This is a major challenge for effective clinical management.
Objective: We aimed to provide accurate AN risk stratification in UC patients with LGD.
Intraskeletal histovariability and skeletochronology in an ornithopod dinosaur from the Maestrazgo Basin (Teruel, Spain).
J Anat
January 2025
Departamento de Ciencias de la Tierra, Aragosaurus-IUCA: Recursos Geológicos y Paleoambientes, Universidad de Zaragoza, Zaragoza, Spain.
Ornithopods are an extinct group of dinosaurs that were particularly abundant and diverse in the Cretaceous of the Iberian Peninsula, and whose abundance in the Maestrazgo Basin has allowed numerous taxa to be identified over the last decade. Many of these fossil remains are still taxonomically indeterminate and require a more detailed study on both a macroscopic and microscopic scale. In this contribution, an osteohistological analysis is carried out on a partial skeleton-composed of five incomplete vertebrae, two dorsal ribs, an ischium, a fibula, and a tibia-found in the province of Aliaga (Teruel, NE Spain).
View Article and Find Full Text PDFAcute kidney injury in paediatric kidney transplant recipients.
Pediatr Nephrol
January 2025
NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK.
Acute kidney injury (AKI) in paediatric kidney transplant recipients is common. Infection including urinary tract infection (UTI) and rejection are the most common causes in children. Surgical complications often cause AKI early post-transplant, whereas BK polyomavirus nephropathy rarely occurs in the first month post-transplant.
View Article and Find Full Text PDFAssessing Kinesiophobia and Catastrophizing Patient-Reported Outcomes in a Randomized Controlled Trial: Efficacy of Capacitive-Resistive Monopolar Radiofrequency Combined with Myofascial Techniques vs. Sham Radiofrequency in Chronic Pelvic Pain Syndrome-A Secondary Analysis.
Int Urogynecol J
January 2025
RAPbarcelona Physiotherapy Clinical Center, Barcelona, Spain.
Introduction And Hypothesis: Chronic Pelvic Pain Syndrome causes psychological distress, worsened by kinesiophobia and pain catastrophizing. This study assesses whether combining capacitive-resistive monopolar radiofrequency with myofascial techniques is more effective than myofascial techniques alone for improving psychological outcomes such as kinesiophobia and catastrophizing.
Methods: This double-blind, randomized controlled trial enrolled 81 chronic pelvic pain syndrome patients (67.
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