Lumbar spinal stenosis (LSS) is a common skeletal system disease that has been partly attributed to genetic variation. However, the correlation between genetic variation and pathological changes in LSS is insufficient, and it is difficult to provide a reference for the early diagnosis and treatment of the disease. We conducted a transcriptome-wide association study (TWAS) of spinal canal stenosis by integrating genome-wide association study summary statistics (including 661 cases and 178,065 controls) derived from Biobank Japan, and pre-computed gene expression weights of skeletal muscle and whole blood implemented in FUSION software. To verify the TWAS results, the candidate genes were furthered compared with messenger RNA (mRNA) expression profiles of LSS to screen for common genes. Finally, Metascape software was used to perform enrichment analysis of the candidate genes and common genes.Aims
Methods
Adult spinal deformity (ASD) surgery can reduce pain and disability. However, the actual surgical efficacy of ASD in doing so is far from desirable, with frequent complications and limited improvement in quality of life. The accurate prediction of surgical outcome is crucial to the process of clinical decision-making. Consequently, the aim of this study was to develop and validate a model for predicting an ideal surgical outcome (ISO) two years after ASD surgery. We conducted a retrospective analysis of 458 consecutive patients who had undergone spinal fusion surgery for ASD between January 2016 and June 2022. The outcome of interest was achievement of the ISO, defined as an improvement in patient-reported outcomes exceeding the minimal clinically important difference, with no postoperative complications. Three machine-learning (ML) algorithms – LASSO, RFE, and Boruta – were used to identify key variables from the collected data. The dataset was randomly split into training (60%) and test (40%) sets. Five different ML models were trained, including logistic regression, random forest, XGBoost, LightGBM, and multilayer perceptron. The primary model evaluation metric was area under the receiver operating characteristic curve (AUROC).Aims
Methods
