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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.
Asthma-associated prostate enlargement and bladder smooth muscle hypercontractility: unveiling a potential link to LUTS.
BMC Urol
January 2025
Department of Urology and Guangdong Key Laboratory of Urology, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510230, China.
Background: In male patients, benign prostate hyperplasia (BPH) and overactive bladder (OAB) secondary to BPH are the primary causes of Lower Urinary Tract Symptoms (LUTS). Recent clinical studies have reported an increased risk of LUTS, particularly severe LUTS conditions, in male asthmatic patients. However, the potential link and mechanism remain unclear.
View Article and Find Full Text PDFDeveloping a predictive model for delayed healing of esophagojejunal anastomotic fistula following total gastrectomy based on imaging and clinical inflammatory-nutritional status.
Clin Nutr ESPEN
January 2025
The Affiliated Hospital of Qingdao University, Qingdao 266001, Shandong province, China. Electronic address:
Background: Esophagojejunal anastomotic fistula (EJF) following radical total gastrectomy is a severe perioperative complication in patients with gastric cancer, particularly as delayed fistula healing increases hospitalization costs and leads to poor prognosis. Numerous factors influence the occurrence and progression of EJF, with inflammation and nutritional status being significant contributors to perioperative complications. Therefore, this study aims to investigate the prediction of delayed EJF healing based on postoperative clinical and imaging-related inflammation-nutrition status.
View Article and Find Full Text PDF1,8-Cineole reduces pulmonary vascular remodelling in pulmonary arterial hypertension by restoring intercellular communication and inhibiting angiogenesis.
Phytomedicine
December 2024
Univ Coimbra, Coimbra Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, Azinhaga de S. Comba, Coimbra 3000-548, Portugal; Univ Coimbra, Center for Innovative Biomedicine and Biotechnology (CIBB), Coimbra, Portugal; Clinical Academic Centre of Coimbra (CACC), Coimbra, Portugal.
Background: Pulmonary Arterial Hypertension (PAH) is characterized by pulmonary vascular remodelling, often associated with disruption of BMPR2/Smad1/5 and BMPR2/PPAR-γ signalling pathways that ultimately lead to right ventricle failure. Disruption of intercellular junctions and communication and a pro-angiogenic environment are also characteristic features of PAH. Although, current therapies improve pulmonary vascular tone, they fail to tackle other key pathological features that could prevent disease progression.
View Article and Find Full Text PDFSpine-Abductor Syndrome: Novel Associations Between Lumbar Spine Disease and Hip Gluteal Muscle Pathology.
J Bone Joint Surg Am
November 2024
Department of Orthopaedic Surgery, Cleveland Clinic Foundation, Cleveland, Ohio.
Background: Risk factors for gluteal tears include age-related deterioration, female sex, and increased body mass index. As the literature that supports the sagittal relationship between the lumbar spine and the hip is increasing, there may be a parallel relationship between the perturbations in spinopelvic alignment caused by lumbar spine disease and gluteal muscle tears. Because no prior studies other than single-institution series have reported on this phenomenon, we investigated spine-abductor syndrome at the population level.
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