Osteogenesis imperfecta with repeated simultaneous bilateral proximal tibial epiphyseal injuries caused by minor trauma: A case report and literature review.

INTRODUCTION: Proximal tibial epiphyseal injuries are rare, accounting for 0.5-3 % of all epiphyseal injuries, of which bilateral cases are extremely rare. Only five cases of bilateral proximal tibial epiphyseal injuries have so far been reported in patients with osteogenesis imperfecta. We herein present a case of repeated bilateral proximal tibial epiphyseal injuries with a diagnosis of osteogenesis imperfecta. We also performed a literature review of 46 cases of bilateral proximal tibial epiphyseal injuries reported since 1955, including 5 of osteogenesis imperfecta. PRESENTATION OF CASE: A 10-year-old boy repeatedly sustained bilateral simultaneous proximal tibial epiphyseal injuries due to minor trauma. Blue sclera was noted and, thus, genetic testing was performed and revealed osteogenesis imperfecta. After the fourth injury, we performed internal fixation with cannulated cancellous screw bilaterally. The patient had a short stature and the marked loss of bone density; therefore, the screw was kept in place until epiphyseal closure and bisphosphonate and human growth hormone were administered to prevent re-fracture and increase bone density and the growth rate. DISCUSSION: The literature review revealed that the mean age of injury was 11.2 years for osteogenesis imperfecta cases and 14.9 years for non-osteogenesis imperfecta cases, with the former being injured at a younger age. CONCLUSION: Osteogenesis imperfecta often causes diaphyseal fractures, which may be attributed to the fragility of the epiphyseal line. Therefore, the possibility of osteogenesis imperfecta needs to be considered when treating patients with epiphyseal injuries at rare sites, particularly younger children.

Establishment and Characterization of a Novel Human Clear-cell Sarcoma of Soft-tissue Cell Line, RSAR001, Derived from Pleural Effusion of a Patient with Pleural Dissemination.

BACKGROUND/AIM: Clear cell sarcoma (CCS) of soft tissue is exceedingly rare and frequently exhibits aggressive behavior. Toward the goals of improving the aggressive course and poor prognosis of CCS, and establish new therapeutic methods, molecular genetic and biological characterizations of CCS are required. MATERIALS AND METHODS: A new human CCS cell line (designated RSAR001) was established from the pleural effusion of a 44-year-old man with multiple lung metastases and pleural dissemination. The cell line and its xenograft were characterized including their morphology, immunohistochemistry, cytogenetic analysis, reverse transcription-polymerase chain reaction, direct sequencing analysis, and fluorescence in situ hybridization analysis. RESULTS: The cell line has been maintained for over 12 months with more than 50 passages. RSAR001 cells exhibited a fascicular or diffuse growth pattern of short spindle- or oval-shaped cells with clear cytoplasm in heterotransplanted tumor, that was similar to the primary tumor. Immunophenotypically, RSAR001 cells in vitro and in vivo exhibited almost the same characteristics as the primary tumor. Cytogenetic analyses revealed a translocation, t(12;22)(q13;q12). Reverse transcription-polymerase chain reaction and direct sequencing analysis detected transcripts of the Ewing sarcoma breakpoint region 1-activating transcription factor 1 (EWSR1-ATF1) type 1 fusion gene. Fluorescence in situ hybridization using a break-apart probe for the EWSR1 gene on 22q12 showed a rearrangement. CONCLUSION: These findings indicate that the RSAR001 cell line harbors EWSR1-ATF1 type 1 chimeric fusion gene, which is specific to CCS. RSAR001 cells might be useful for investigating biological behaviors and developing new treatments such as molecular-targeting antitumor drugs or immunological drugs for CCS.

Curcumin attenuates oxidative stress following downhill running-induced muscle damage.

Downhill running causes muscle damage, and induces oxidative stress and inflammatory reaction. Recently, it is shown that curcumin possesses anti-oxidant and anti-inflammatory potentials. Interestingly, curcumin reduces inflammatory cytokine concentrations in skeletal muscle after downhill running of mice. However, it is not known whether curcumin affects oxidative stress after downhill running-induced muscle damage. Therefore, the purpose of this study was to investigate the effects of curcumin on oxidative stress following downhill running induced-muscle damage. We also investigated whether curcumin affects macrophage infiltration via chemokines such as MCP-1 and CXCL14. Male C57BL/6 mice were divided into four groups; rest, rest plus curcumin, downhill running, or downhill running plus curcumin. Downhill running mice ran at 22 m/min, -15% grade on the treadmill for 150 min. Curcumin (3mg) was administered in oral administration immediately after downhill running. Hydrogen peroxide concentration and NADPH-oxidase mRNA expression in the downhill running mice were significantly higher than those in the rest mice, but these variables were significantly attenuated by curcumin administration in downhill running mice. In addition, mRNA expression levels of MCP-1, CXCL14 and F4/80 reflecting presence of macrophages in the downhill running mice were significantly higher than those in the rest mice. However, MCP-1 and F4/80 mRNA expression levels were significantly attenuated by curcumin administration in downhill running mice. Curcumin may attenuate oxidative stress following downhill running-induced muscle damage.