Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period. Unexpected variants unrelated to referral are being increasingly detected in asymptomatic individuals through ECS. In this study, we reported an asymptomatic male with duplication of exons 56–61 in the DMD gene through ECS using whole-exome sequencing (WES), which was also detected in a male patient diagnosed with typical Duchenne muscular dystrophy (DMD). Breakpoint analysis was then performed to explore the potential mechanisms of phenotypic differences using long-read sequencing (LRS), PacBio single-molecule real-time (PacBio SMRT) target sequencing, and Sanger sequencing. Complex structural variations (SVs) on chromosome X were identified in the asymptomatic male, which revealed that the duplication occurred outside the DMD gene; whereas, the duplication in the patient with DMD was a tandem repeat. The phenotypic differences between the two men could be explained by the different breakpoint junctions. To the best of our knowledge, this is the first report of a breakpoint analysis of DMD duplication in two men with different phenotypes. Breakpoint analysis is necessary when the clinical phenotypes are inconsistent with genotypes, and it applies to prenatal testing.

Data mining, data prediction and all-round digital monitoring of health big data make the dilemma of personal privacy control prominent. The weakening of the control of personal privacy by big data technology, the people’s data belief, the diversity of interests and the conflict of interests are the main causes of the problem of personal privacy in the context of the application of health big data. Therefore, in the application of health big data, the solution to the problem of personal privacy in the context of health big data application is to enhance the value transparency of big data technology, return and reshape humanism, and explore common values to reduce conflicts of interest.

Based on the industry assets and input-output data of labor-intensive industries in China from 1997 to 2016, this paper empirically tests the impact of industrial transfer on regional total factor productivity and its impact path through panel VAR and mediation effect models. The study found that: (1) China's labor-intensive industry transfer significantly affects regional total factor productivity, in which industrial transfer increases the total factor productivity of industrial transfer and reduces the total factor productivity of industrial support; (2) industrial transfer significantly affectes the total factor productivity by its impact on human capital. Finally, the corresponding countermeasures and suggestions are put forward.

Against the backdrop of the construction of an ecological civilization and the “Healthy China 2030” initiative, access to clean fuels is crucial for achieving optimal health and wellbeing, as well as sustainable social development. The purpose of this study is to investigate the effect of household clean fuel combustion (HCFC) on multiple dimensions of health among older adults while shedding light on the potential mechanisms. We performed a cross-sectional study of the data from the 2018 China Health and Retirement Longitudinal Survey, and we surmounted the underlying issues of endogeneity with the application of propensity score matching and the instrumental variable strategy. The results revealed that HCFC has positive effects on the health of older adults, particularly by improving their psychological wellbeing. The adoption of clean fuels among the elderly was associated with a significant increase in SRH by 3.06% to 3.42% and a decrease in CES-D by 7.96% to 8.28%. These positive environmental health effects became stronger among the elderly under the age of 75, as well as among those who were educated and had chronic diseases. Moreover, the results demonstrated that HCFC significantly alleviated chronic pain and increased social interaction among older adults, highlighting two potential pathways for promoting their wellbeing. Given that a significant number of rural households in China rely on polluting fuels, targeted strategies are crucial for promoting the use of clean fuels, particularly for vulnerable populations.