Novel CUL4B mutation in Cabezas syndrome

Cabezas syndrome is a syndromic form of X-linked intellectual disability primarily characterized by a short stature, hypogonadism and abnormal gait, with other variable features resulting from mutations in the CUL4B gene. Here, we report a clinically undiagnosed 5-year-old male with severe intellectual disability. A genome-first approach using targeted exome sequencing identified a novel nonsense mutation [NM_003588.3:c.2698G>T, p.(Glu900*)] in the last coding exon of CUL4B, thus diagnosing this patient with Cabezas syndrome

DNA Damage in Rheumatoid Arthritis: An Age-Dependent Increase in the Lipid Peroxidation-Derived DNA Adduct, Heptanone-Etheno-2′-Deoxycytidine

Objective. To evaluate what types of DNA damages are detected in rheumatoid arthritis (RA). Methods. The DNA adducts such as 8-oxo-hydroxy-7,8-dihydro-2′-deoxyguanosine (8-oxo-dG), 1,N6-etheno-2′-deoxyadenosine (εdA), and heptanone-etheno-2′-deoxycytidine (HεdC) in genomic DNAs, derived from whole blood cells from 46 RA patients and 31 healthy controls, were analyzed by high-performance liquid chromatography tandem mass spectrometry, and their levels in RA patients and controls were compared. In addition, correlation between DNA adducts and clinical parameters of RA was analyzed. Results. Compared with controls, the levels of HεdC in RA were significantly higher (P<0.0001) and age dependent (r = 0.43, P < 0.01), while there was no significant difference in 8-oxo-dG and εdA accumulation between RA patients and controls. HεdC levels correlated well with the number of swollen joints (r = 0.57, P < 0.0001) and weakly with the number of tender joints (r = 0.26, P = 0.08) of RA patients, while they did not show a significant association with serological markers such as C-reactive protein and matrix metalloproteinase 3. Conclusion. These findings indicate that HεdC may have some influence on the development of RA and/or its complications

Trends and Practical Issues in Collaboration between Communities and Schools: Focusing on School Management Councils and Community Schools

This paper aimed to summarize trends in educational policies, pedagogical research, and educational practices concerning communities and schools, and to clarify the practical matters of school-based community development, especially practical development and issues concerning collaboration between communities and schools, with a focus on school management councils and community schools. To this end, we examined trends in educational policies in terms of collaboration between communities and schools. Next, we explored trends in pedagogical research and educational practices from three perspectives (educational methods, educational administration, and social education), and their regional development and issues. Then, from the perspective of collaboration between different types of schools and between schools and local communities, we investigated discuss two local practices (Waki-Cho in Yamaguchi Prefecture and Niseko-Cho in Hokkaido) that promote advanced practices through the establishment of school management councils. Finally, based on the field research, we examined the significance of these practices and future topics