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. 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.Aims
Methods
The aim of this study was to determine whether there is an increased prevalence of scoliosis in patients who have suffered from a haematopoietic malignancy in childhood. Patients with a history of lymphoma or leukaemia with a current age between 12 and 25 years were identified from the regional paediatric oncology database. The medical records and radiological findings were reviewed, and any spinal deformity identified. The treatment of the malignancy and the spinal deformity, if any, was noted.Aims
Methods
A self-control ratio, the spine-pelvis index
(SPI), was proposed for the assessment of patients with adolescent idiopathic
scoliosis (AIS) in this study. The aim was to evaluate the disproportionate
growth between the spine and pelvis in these patients using SPI.
A total of 64 female patients with thoracic AIS were randomly enrolled
between December 2010 and October 2012 (mean age 13 years, standard
deviation ( No significant difference in SPI was found in different age groups
in the control group, making the SPI an age-independent parameter
with a mean value of 2.219 (2.164 to 2.239). We also found that
the SPI was not related to maturity in the control group. This study, for the first time, used a self-control ratio to
confirm the disproportionate patterns of growth of the spine and
pelvis in patients with thoracic AIS, highlighting that the SPI
is not affected by age or maturity. Cite this article:
