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A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.
Orphanet J Rare Dis
December 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Meier-Gorlin syndrome (MGORS) is a rare autosomal inherited form of primordial dwarfism. Pathogenic variants in 13 genes involved in DNA replication initiation have been identified in this disease, but homozygous intronic variants have never been reported. Additionally, whether growth hormone (GH) treatment can increase the height of children with MGORS is unclear.
View Article and Find Full Text PDF[Internal heat acupuncture therapy for 44 cases knee osteoarthritis of early to middle stages].
Zhongguo Zhen Jiu
January 2025
Department of Rehabilitation Medicine, General Hospital of Ningxia Medical University, Yinchuan 750004, China; Key Laboratory of Ningxia Ethomedicine Modernization, Ministry of Education, Yinchuan 750004.
Objective: To observe the clinical effect of internal heat acupuncture therapy for knee osteoarthritis of early to middle stages, and explore its influence on cartilage thickness.
Methods: A total of 44 patients with knee osteoarthritis of early to middle stages were treated with internal heat acupuncture therapy at points (most of them are located at the subpatellar fat pad, both sides of the patellar ligament, the tendon of the quadriceps and the attachment of the medial and lateral collateral ligaments), once a week, a total of 4 weeks of treatment. Before and after treatment, after 3 months of treatment completion (in the follow-up), the visual analogue scale (VAS) score, Western Ontario and McMaster Universities osteoarthritis index (WOMAC) score, frequency of 30-second chair stand test (30sCST), cartilage thickness of femoral intercondylar and knee joint ultrasound score were compared, and the clinical effect was evaluated.
Impact of Functional Training on Injuries After Anterior Cruciate Ligament Reconstruction for Return-to-Duty Status in U.S. Naval Academy Midshipmen: A Retrospective Analysis.
Mil Med
January 2025
Musculoskeletal Department, Naval Health Clinic Annapolis/United States Naval Academy, Annapolis, MD 21402, USA.
Introduction: Acute anterior cruciate ligament (ACL) injuries can be disabling because of prolonged rehabilitation process following surgical reconstructions. Rates of ACL injuries among military service members are close to 10 times greater than the general civilian population, likely because of the operation tempo and the unique physical requirements. Studies debated functional testing requirements for return to sports, but no study investigated the impact of functional training and re-injury rates following ACL reconstruction and their association with functional testing outcomes and time to return to full duty in United States Naval Academy (USNA) Midshipmen.
View Article and Find Full Text PDFObjectivesPatient perception of treatment effectiveness is key to optimizing adherence. This is potentially impacted by color, yet no such studies have been conducted in asthma. This study assessed the influence of pink vs.
View Article and Find Full Text PDFHigh-frequency epidural electrical stimulation reduces spasticity and facilitates walking recovery in patients with spinal cord injury.
Sci Transl Med
January 2025
Modular Implantable Neuroprostheses (MINE) Laboratory, Università Vita-Salute San Raffaele & Scuola Superiore Sant'Anna, 20132 Milan, Italy.
Spinal cord injury (SCI) causes severe motor and sensory deficits, and there are currently no approved treatments for recovery. Nearly 70% of patients with SCI experience pathological muscle cocontraction and spasticity, accompanied by clinical signs such as patellar hyperreflexia and ankle clonus. The integration of epidural electrical stimulation (EES) of the spinal cord with rehabilitation has substantial potential to improve recovery of motor functions; however, abnormal muscle cocontraction and spasticity may limit the benefit of these interventions and hinder the effectiveness of EES in promoting functional movements.
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