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http://dx.doi.org/10.1056/NEJMc1602607 | DOI Listing |
Spine Deform
January 2025
Division of Spine Surgery, Department of Orthopedic Surgery, Nanjing Drum Tower Hospital, Affiliated Hospital of Medical School, Nanjing University, Zhongshan Road 321, Nanjing, 210008, China.
Purpose: This study is to conduct a retrospective review of the selective resection strategies, their immediate efficacy and prognosis, using double hemivertebrae (DHV) as illustrative cases.
Methods: A total of 59 adolescent and young adult patients with DHV were enrolled from 2009 to 2021. They were categorized into sagittal kyphosis group (SKG), coronal takeoff group (CTG) and balanced group (BG).
Aging Clin Exp Res
January 2025
Instituto de Neurociencias del Principado de Asturias (INEUROPA), University of Oviedo, Oviedo, 33003, Spain.
Background: The presence of frailty is common in people with Parkinson's disease, as is cognitive dysfunction. Previous research on frailty has focused on the physical aspects of the pathology.
Aims: To analyze the relationship between frailty and cognitive impairment in patients with Parkinson's disease and to know which disease characteristics are associated with frailty.
Calcif Tissue Int
January 2025
Department of Medicine, Surgery and Neuroscience, University of Siena, Siena, Italy.
Rett syndrome (RS) is a rare neurodevelopmental disorder primarily caused by mutations in the X-linked methyl-CpG binding protein 2 (MECP2) gene, responsible for encoding MECP2 which plays a pivotal role in regulating gene expression. The neurological and non-neurological manifestations of RS vary widely in severity depending on the specific mutation type. Bone complications, mostly scoliosis but also osteoporosis, hip displacement, and a high rate of fractures, are among the most prevalent non-neurological comorbidities observed in girls with RS.
View Article and Find Full Text PDFCalcif Tissue Int
January 2025
Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.
Osteogenesis imperfecta (OI) is an inheritable skeletal disorder characterized by bone fragility often caused by pathogenic variants in the COL1A1 gene. Current OI mouse models with a glycine substitution in Col1a1 exhibit excessive severity, thereby limiting long-term pathophysiological analysis and drug effect assessments. To address this limitation, we constructed a novel OI mouse model mimicking a patient with OI type III.
View Article and Find Full Text PDFEur Spine J
January 2025
Department of Orthopedic Surgery, Spine Unit, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark.
Purpose: To investigate the relationship between spinal cord anatomy and the risk of curve progression in mild to moderate adolescent idiopathic scoliosis (AIS).
Methods: We prospectively included patients presenting with mild or moderate AIS (< 40 degrees). Irrespective of curve severity, patients underwent 3-dimensional MRI and were followed until skeletal maturity or surgery.
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