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Background: An estimated 17% of all couples worldwide are involuntarily childless (infertile). The clinically identifiable causes of infertility can be found in the male or female partner or in both. The molecular pathophysiology of infertility still remains unclear in many cases but is increasingly being revealed by genetic analyses.
View Article and Find Full Text PDFBackground: Age-related macular degeneration (AMD), a condition of multifactorial origin, is a major cause of irreversible vision loss in industrialized countries. The dry late stage of the disease, known as geographic atrophy (GA), is characterized by progressive loss of photoreceptor cells and retinal pigment epithelial cells in the central retina. An estimated 300 000 to 550 000 people in Germany suffer from GA.
View Article and Find Full Text PDFThe 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.
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