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
Introduction. Despite extensive research, the cause of adolescent idiopathic scoliosis (AIS) is still largely unclear. Girls with AIS tend to be taller and leaner, and have a lower body-mass index (BMI) and lower bone mass, than do healthy girls. Recent MRI studies have shown the presence of relative anterior spinal overgrowth in girls with AIS. The lower bone mineral status and BMI could be related to dysfunctional central regulation pathway of growth, bodyweight, and bone metabolism. Following several interesting reports on the role of leptin in regulation of the above pathway in animals and human beings, our recent study has shown a low leptin concentration in girls with AIS girls compared with healthy adolescents. This finding leads to our new hypothesis that abnormal leptin bioavailability could be associated with the lower bodyweight, lower bone mineral density, and relatively disproportional endochondral skeletal growth in AIS. This study aimed to investigate the leptin bioavailability in girls with AIS. Methods. 53 girls with AIS and 27 healthy girls (aged 11–16 years) were recruited in this preliminary study. Clinical and anthropometric data were obtained. Blood samples were obtained for ELISA of leptin and soluble leptin receptor (sOB-R). Independent Student's t test and multivariate regression were used in group comparison. Results. The AIS group had significantly lower BMI and longer arm span than did controls. Additionally, girls with AIS had significantly higher soluble leptin receptor concentrations (22·1 ng/mL [□}6·9] vs 17·8 ng/mL [4·4]; p<0·01). However, the leptin concentration (7·6 ng/mL [□}5·3] vs 8·7 ng/mL [□}6·0]) and the leptin/sOB-R ratio (0·38 [□}0·28] vs 0·56 [□}0·47]) were similar to that of the controls. In girls with AIS, the leptin, sOB-R, and the leptin/sOB-R ratio correlated well with bodyweight and BMI. After adjustment for BMI, sOB-R in girls with AIS was significantly higher than in controls (r=0·37, p=0·042). Conclusions. This preliminary report showed that the soluble leptin receptor could be abnormal in girls with AIS. Leptin and sOB-R are related to bodyweight. sOB-R is a major modulator of leptin concentration in circulation, the abnormality of which may lead to the retention of leptin in the circulation and thus abnormal regulatory effect. In this study, girls with AIS had lower BMI and longer arm span, which may reflect the possible change resulting from abnormal leptin bioavailability. Further longitudinal study with larger sample size would be useful to help to understand the long-term effect of the low leptin and high sOB-R in girls with AIS on their bodyweight and
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:
