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Congenital muscular dystrophies and myopathies: the leading cause of genetic muscular disorders in eleven Chinese families.
BMC Musculoskelet Disord
January 2025
Medical Genetic Diagnosis and Therapy Center, Fujian Maternity and Child Health Hospital, College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, 18 Daoshan Road, Fuzhou, 350001, China.
Background: Congenital muscular dystrophies (CMDs) and myopathies (CMYOs) are a clinically and genetically heterogeneous group of neuromuscular disorders that share common features, such as muscle weakness, hypotonia, characteristic changes on muscle biopsy and motor retardation. In this study, we recruited eleven families with early-onset neuromuscular disorders in China, aimed to clarify the underlying genetic etiology.
Methods: Essential clinical tests, such as biomedical examination, electromyography and muscle biopsy, were applied to evaluate patient phenotypes.
A unique case report on campylobacter rectus infection leading to acute motor axonal neuropathy in a pediatric patient.
Radiol Case Rep
March 2025
Department of Radiology, Imo State University, Imo State, Nigeria.
A unique case report on campylobacter rectus infection leading to acute motor axonal neuropathy in a pediatric patient. Campylobacter rectus is an anaerobic bacterium found in the oral cavity. While it has been linked to periodontal disease, its association with acute motor axonal neuropathy (AMAN), a variant of Guillain-Barre Syndrome, remains unverified.
View Article and Find Full Text PDFSystematic review of machine learning applications using nonoptical motion tracking in surgery.
NPJ Digit Med
January 2025
Department of Plastic and Reconstructive Surgery, Erasmus MC University Medical Center, Rotterdam, the Netherlands.
This systematic review explores machine learning (ML) applications in surgical motion analysis using non-optical motion tracking systems (NOMTS), alone or with optical methods. It investigates objectives, experimental designs, model effectiveness, and future research directions. From 3632 records, 84 studies were included, with Artificial Neural Networks (38%) and Support Vector Machines (11%) being the most common ML models.
View Article and Find Full Text PDFAnkle muscle strength and activation are associated with walking patterns in preschool and school-age children.
PLoS One
January 2025
Faculty of Sport Sciences, Waseda University, Saitama, Japan.
Walking patterns can differ between children and adults, both kinematically and kinetically. However, the detailed nature of the ankle pattern has not been clarified. We investigated musculature, biomechanics, and muscle activation strategies and their relevance to walking performance in preschool (PS) and school children (SC), with adults (AD) as reference.
View Article and Find Full Text PDFAnalysis of Dynamic Mandibular Movement of Patients With Condylar Hyperplasia Treated With Orthognathic Surgery and Condylectomy.
J Craniofac Surg
January 2025
Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology.
Objective: To assess the dynamic mandibular movement of patients with condylar hyperplasia before and after simultaneous orthognathic surgery and condylectomy through an intraoral approach.
Methods: Two groups of patients diagnosed with unilateral condylar hyperplasia were studied: the preoperative group consisted of 23 patients and the postoperative group consisted of 13 patients who had undergone simultaneous orthognathic surgery and condylectomy through an intraoral approach with follow-up for more than 1 year. The normal reference value was obtained from 11 individuals without oral and maxillofacial diseases.
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