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Bone & Joint Research
Vol. 12, Issue 1 | Pages 80 - 90
20 Jan 2023
Xu J Si H Zeng Y Wu Y Zhang S Liu Y Li M Shen B

Aims

Degenerative cervical spondylosis (DCS) is a common musculoskeletal disease that encompasses a wide range of progressive degenerative changes and affects all components of the cervical spine. DCS imposes very large social and economic burdens. However, its genetic basis remains elusive.

Methods

Predicted whole-blood and skeletal muscle gene expression and genome-wide association study (GWAS) data from a DCS database were integrated, and functional summary-based imputation (FUSION) software was used on the integrated data. A transcriptome-wide association study (TWAS) was conducted using FUSION software to assess the association between predicted gene expression and DCS risk. The TWAS-identified genes were verified via comparison with differentially expressed genes (DEGs) in DCS RNA expression profiles in the Gene Expression Omnibus (GEO) (Accession Number: GSE153761). The Functional Mapping and Annotation (FUMA) tool for genome-wide association studies and Meta tools were used for gene functional enrichment and annotation analysis.


The Bone & Joint Journal
Vol. 101-B, Issue 3 | Pages 253 - 259
1 Mar 2019
Shafafy R Valsamis EM Luck J Dimock R Rampersad S Kieffer W Morassi GL Elsayed S

Aims

Fracture of the odontoid process (OP) in the elderly is associated with mortality rates similar to those of hip fracture. The aim of this study was to identify variables that predict mortality in patients with a fracture of the OP, and to assess whether established hip fracture scoring systems such as the Nottingham Hip Fracture Score (NHFS) or Sernbo Score might also be used as predictors of mortality in these patients.

Patients and Methods

We conducted a retrospective review of patients aged 65 and over with an acute fracture of the OP from two hospitals. Data collected included demographics, medical history, residence, mobility status, admission blood tests, abbreviated mental test score, presence of other injuries, and head injury. All patients were treated in a semi-rigid cervical orthosis. Univariate and multivariate analysis were undertaken to identify predictors of mortality at 30 days and one year. A total of 82 patients were identified. There were 32 men and 50 women with a mean age of 83.7 years (67 to 100).