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The Splice Index as a prognostic biomarker of strength and function in myotonic dystrophy type 1.
J Clin Invest
January 2025
Center for Inherited Myology Research, Virginia Commonwealth University, Richmond, United States of America.
Background: Myotonic dystrophy type 1 (DM1) is a multisystemic, CTG repeat expansion disorder characterized by a slow, progressive decline in skeletal muscle function. A biomarker correlating RNA mis-splicing, the core pathogenic disease mechanism, and muscle performance is crucial for assessing response to disease-modifying interventions. We evaluated the Myotonic Dystrophy Splice Index (SI), a composite RNA splicing biomarker incorporating 22 disease-specific events, as a potential biomarker of DM1 muscle weakness.
View Article and Find Full Text PDFPitch Types and Their Influence on Elbow Varus Torque and Spin Rate in Professional Baseball Pitchers.
Am J Sports Med
January 2025
Midwest Orthopaedics at Rush, Chicago, Illinois, USA.
Background: Elbow injuries are prevalent among professional baseball pitchers as nearly 25% undergo ulnar collateral ligament reconstruction. Pitch type, ball velocity, and spin rate have been previously hypothesized to influence elbow varus torque and subsequent risk of injury, but existing research is inconclusive.
Purpose: To examine elbow varus torque, cumulative torque, and loading rate within professional pitchers throwing fastball, curveball, change-up, and slider pitches, as well as to identify potential influences of ball spin on the elbow.
Effectiveness of Additional or Standalone Corticosteroid Injections Compared to Physical Therapist Interventions in Rotator Cuff Tendinopathy: A Systematic Review and Meta-Analysis of Randomized Controlled Trials.
Phys Ther
January 2025
IRCCS Fondazione Don Carlo Gnocchi, Milan, Italy.
Importance: Rotator cuff tendinopathy represents the most prevalent cause of shoulder pain, the third most common musculoskeletal disorder after low back pain and knee pain.
Objective: The objective of this study was to determine the effectiveness of corticosteroid injection(s), alone or in combination with anesthetic injection or any other physical therapist interventions, compared to physical therapist interventions alone in adults with rotator cuff tendinopathy.
Design: This study was a systematic review and meta-analysis of randomized controlled trials.
Use of Albumin-Adjusted Calcium Measurements in Clinical Practice.
JAMA Netw Open
January 2025
Division of Endocrinology and Metabolism, Department of Medicine, University of Calgary, Calgary, Alberta, Canada.
Importance: Using albumin-adjusted calcium is commonly recommended for for measuring calcium, but with little empirical evidence to support the practice.
Objective: To assess the correlation between total calcium measurements (with or without adjustment) vs the ionized calcium level as a reference standard.
Design, Setting, And Participants: This was a population-based cross-sectional study in the province of Alberta, Canada, including adults tested for serum total calcium and ionized calcium simultaneously between January 1, 2013, and October 31, 2019.
Genomic Drivers of Coronary Artery Disease and Risk of Future Outcomes After Coronary Angiography.
JAMA Netw Open
January 2025
Department of Medicine, Harvard Medical School, Boston, Massachusetts.
Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.
Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).
Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.
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