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Bone & Joint Research
Vol. 12, Issue 6 | Pages 387 - 396
26 Jun 2023
Xu J Si H Zeng Y Wu Y Zhang S Shen B

Aims

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.

Methods

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.


The Bone & Joint Journal
Vol. 104-B, Issue 4 | Pages 495 - 503
1 Apr 2022
Wong LPK Cheung PWH Cheung JPY

Aims

The aim of this study was to assess the ability of morphological spinal parameters to predict the outcome of bracing in patients with adolescent idiopathic scoliosis (AIS) and to establish a novel supine correction index (SCI) for guiding bracing treatment.

Methods

Patients with AIS to be treated by bracing were prospectively recruited between December 2016 and 2018, and were followed until brace removal. In all, 207 patients with a mean age at recruitment of 12.8 years (SD 1.2) were enrolled. Cobb angles, supine flexibility, and the rate of in-brace correction were measured and used to predict curve progression at the end of follow-up. The SCI was defined as the ratio between correction rate and flexibility. Receiver operating characteristic (ROC) curve analysis was carried out to assess the optimal thresholds for flexibility, correction rate, and SCI in predicting a higher risk of progression, defined by a change in Cobb angle of ≥ 5° or the need for surgery.