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Knowledge of the natural history of deficiency disorder (CDD) is limited to the results of cross-sectional analysis of largely pediatric cohorts. Assessment of outcomes in adulthood is critical for clinical decision-making and future precision medicine approaches but is challenging because of the diagnostic gap and duration of follow-up that would be required for prospective studies. We aimed to delineate the natural history retrospectively from adulthood.
View Article and Find Full Text PDF[SELENON-related myopathy with scoliosis and respiratory failure since early childhood diagnosed through reassessment during pediatric-to-adult healthcare transition: a case report].
Rinsho Shinkeigaku
January 2025
Department of Neurology, The University of Tokyo Hospital.
The patient was a 33-year-old woman with no family history of a similar disorder. At one year of age, she exhibited scoliosis and respiratory failure, necessitating a tracheostomy performed at 5 years of age (1990s). During that time, the patient was provisionally diagnosed with "non-Fukuyama congenital muscular dystrophy" via muscle biopsy.
View Article and Find Full Text PDFCorrelations between spinopelvic parameters and health-related quality of life in degenerative lumbar scoliosis patients before and after long -level fusion surgery.
BMC Musculoskelet Disord
January 2025
Department of Orthopedics, Peking University Third Hospital, No. 49. North Garden Street, Hai Dian District, Beijing, 100191, People's Republic of China.
Background: For degenerative lumbar scoliosis (DLS), prior studies mainly focused on the preoperative relationship between spinopelvic parameters and health-related quality of life (HRQoL), lacking an exhaustive evaluation of the postoperative situation. Therefore, the postoperative parameters most closely bonded with clinical outcomes has not yet been well-defined in DLS patients. The objective of this study was to comprehensively assess the correlation between radiographic parameters and HRQoL before and after surgery, and to identified the most valuable spinopelvic parameters for postoperative curative effect.
View Article and Find Full Text PDFEfficacy and safety of long fusion versus short fusion in degenerative scoliosis: a systematic review and meta-analysis.
J Orthop Surg Res
January 2025
Department of Orthopedics Surgery, 363 Hospital, Chengdu, Sichuan, China.
Background: This study aimed to evaluate the efficacy and safety of long fusion versus short fusion in patients with degenerative scoliosis.
Methods: Databases were systematically searched up to June 2024. The authors applied Review Manager 5.
Risk factors for mechanical complications in degenerative lumbar scoliosis with concomitant thoracolumbar kyphosis: does the selection of the upper instrumented vertebra matter?
J Orthop Surg Res
January 2025
Department of Orthopaedics, Peking University Third Hospital, 49 North Garden Road, Haidian District, Beijing, 100191, China.
Background: Degenerative lumbar scoliosis (DLS) represents a distinct subset of adult spinal deformity, frequently co-occurring with thoracolumbar kyphosis (TLK) in the sagittal plane. TLK is typically viewed as detrimental in degenerative spinal conditions and has been linked to increased pain severity and a higher prevalence of mechanical complications (MC) as previously reported. The present study aimed to identify the risk factors associated with the development of MC in patients with DLS and concomitant TLK.
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