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
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
Signalling by growth differentiation factor 6 (GDF6/BMP13) has been implicated in the development and maintenance of healthy NP cell phenotypes and GDF6 mutations are associated with defective vertebral segmentation in Klippel-Feil syndrome. GDF6 may thus represent a promising biologic for treatment of IVD degeneration. This study aimed to investigate the effect of GDF6 in human NP cells and critical signal transduction pathways involved. BMP receptor expression profile of non-degenerate and degenerate human NP cells was determined through western blot, immunofluorescence and qPCR. Phosphorylation statuses of Smad1/5/9 and non-canonical p38 MAPK and Erk1/2 were assessed in the presence/absence of pathway blockers. NP marker and matrix degrading enzyme gene expression was determined by qPCR following GDF6 stimulation. Glycosaminoglycan and collagen production were assessed through DMMB-assay and histochemical staining.Background
Methods
Recent anthropometric studies have suggested that current design of total knee arthroplasty (TKA) does not cater to racial anthropometric differences. The purpose of this study was to investigate the exact sizing and rotational landmarks of the distal femur collected and its gender differences from a large group of healthy Southern Chinese using 3D-CT measurements, and then compare these measurements to the five total knee prostheses conventionally used in China. This study evaluated distal femoral geometry in 85 healthy Southern Chinese, included 39 females (78 knees) and 46 males (92 knees) with a mean age of 33.9 years，a mean height of 164.7 cm and a mean weight of 59.9 kg. The width of the articular surface as projected onto the transepicondylar line(ML), anteroposterior dimension (AP), the dimensions from medial/lateral epicondyle to posterior condylar (MEP/LEP) were measured. A characterization of the aspect ratio (ML/AP) was made for distal femur. The angles between the tangent line of the posterior condylar surfaces, the Whiteside line, the transepicondylar line, and the trochlear line were measured. The sulcus angle and hip center-femoral shaft angle were also measured [Fig. 1]. The data were compared with the five total knee prostheses conventionally used in China. In analyzing the data, best-fit lines were calculated with use of least-squares regression. The dimensions are summarized as the mean and standard deviation. Comparisons of dimensions between males and females were made with use of the two-sample t test. A p value of <0.05 indicated a significant effect.Background
Methods
Recent anthropometric studies have suggested that current design of total knee arthroplasty (TKA) does not cater to racial anthropometric differences. The purpose of this study was to investigate the exact sizing and rotational landmarks of the distal femur collected from a large group of healthy Southern Chinese using three dimensional computer tomographic measurements, and then compare these measurements to the known dimensions from Caucasian populations. This study evaluated distal femoral geometry in 125 healthy Southern Chinese, included 58 women (106 knees) and 67 men (134 knees) with a mean age of 35.2±8.11 years, a mean height of 165.5±7.94 cm, and a mean weight of 61.7±9.56 kg. The width of the articular surface as projected onto the transepicondylar line(ML), anteroposterior dimension (AP), the dimensions from medial/lateral epicondyle to posterior condylar (MEP/LEP)were measured. A characterization of the aspect ratio (ML/AP) was made for distal femur[Fig. 1]. The angles between the tangent line of the posterior condylar surfaces, the Whiteside line, the transepicondylar line, and the trochlear line were measured. The sulcus angle and hip center-femoral shaft angle were also measured. Known dimensions from Caucasian populations were compared with the morphologic data collected in this study[Fig. 2]. In analyzing the data, best-fit lines were calculated with use of least-squares regression. The dimensions are summarized as the mean and standard deviation. The differences of rotational landmarks and sizing between the Southern Chinese and Caucasians were assessed with use of the Student t test. A p value of <0.05 indicated a significant effect.Background
Methods
Total hip arthroplasty (THA) has been applied to treat pain and disability in patients with post-traumatic arthritis after acetabular fracture for many years. However, the midterm and long-term results of THA for this unique population are still controversial. According to previous studies, we found that uncemented acetabular reconstructions were usually performed in patients who were most likely to have the best results and an abnormal acetabular structure was usually the reason for THA failure. In this study, we evaluated the midterm results of using uncement acetabular components to treat posttraumatic arthritis after acetabular fracture. In addition, we investigated the effects of different acetabular fracture treatments and fracture patterns on THA. Between January 2000 to December 2003, 34 uncemented acetabular reconstructions were performed in 34 patients for posttraumatic arthritis after acetabular fractures. Among them, 31 patients underwent complete clinical and radiographic follow-up for an average of 6.3 years (range, 3.1–8.4 years). There were 22 men and 9 women. The patients' average age was 51 ± 12 years (range, 27–74 years) at the time of arthroplasty. The average interval from fracture to THA was 5.58 ± 4.42 years (range, 0.75–17.5 years). Of the 31 patients, 19 had undergone ORIF (open-reduction group) and 12 had received conservative treatment for the acetabular fractures (conservative-treatment group). Then, 14 had simple pattern fractures (simple group) and 17 had complex pattern fractures (complex group). After midterm follow-up, the radiographic and clinic results of the different groups were compared.Background and Objective
Materials and Methods
