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Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare. In 2018, the myogenesis-regulated glycosidase (MYORG) gene was the first to be associated with AR-PFBC. The present case is a 24-year-old woman with AR-PFBC that presented with migraine at the age of 16 years. Symmetrical patchy calcifications were seen in the bilateral cerebellopontine nuclei, thalamus, basal ganglia, and radiocoronal area on computed tomography and magnetic resonance imaging. AR-PFBC with migraine as the main clinical symptom is rare. Whole-exome sequencing revealed a compound heterozygous mutation in the MYORG gene, one of which has not been previously reported. Our case highlights the pathogenic profile of the MYORG gene, and demonstrates the need for exclusion of calcium deposits in the brain for migraine patients with AR inheritance.

Background: Short tandem repeats (STRs) are highly variable elements that play a pivotal role in multiple genetic diseases and the regulation of gene expression. Long-read sequencing (LRS) offers a potential solution to genome-wide STR analysis. However, characterizing STRs in human genomes using LRS on a large population scale has not been reported.Methods: We conducted the large LRS-based STR analysis in 193 unrelated samples of the Chinese population and performed genome-wide profiling of STR variation in the human genome. The repeat dynamic index (RDI) was introduced to evaluate the variability of STR. We sourced the expression data from the Genotype-Tissue Expression to explore the tissue specificity of highly variable STRs related genes across tissues. Enrichment analyses were also conducted to identify potential functional roles of the high variable STRs.Results: This study reports the large-scale analysis of human STR variation by LRS and offers a reference STR database based on the LRS dataset. We found that the disease-associated STRs (dSTRs) and STRs associated with the expression of nearby genes (eSTRs) were highly variable in the general population. Moreover, tissue-specific expression analysis showed that those highly variable STRs related genes presented the highest expression level in brain tissues, and enrichment pathways analysis found those STRs are involved in synaptic function-related pathways.Conclusion: Our study profiled the genome-wide landscape of STR using LRS and highlighted the highly variable STRs in the human genome, which provide a valuable resource for studying the role of STRs in human disease and complex traits.

We explored the association between rare variants of 69 LSDs genes and Parkinson disease in 3879 patients and 2931 controls from PD-MDCNC using next-generation sequencing. We identified the significant burden of rare putative LSDs gene variants in Chinese mainland Parkinson disease patients. Our findings supported the association between LSDs genes and Parkinson disease and revealed several novel risk genes in Chinese mainland Parkinson disease patients.

Mechanical scribing groove approach has been utilized in the process sequence of high efficiency buried-contact silicon solar cells. The best cell efficiency was 18.47% for float zone wafers in the initial stage. Because of the possibility of using multiple blades at the same time, it has the potential to transfer to mass-scale production of solar cells with low cost and high efficiency.

During carrying out a project on high efficiency crystalline silicon solar cells, different materials (CZ and FZ wafers with different resistivities) and different structures were experimented upon. For improving solar cell performance, the technology of emitter passivation, AR surface texture and coating, HCl cleaning of the quartz tube, etc., were used. The best efficiency obtained to date is 18.2%.

The paper explains the fundamentals of the open volumetric receiver technology and shows the history of its development. It gives technical information about the system definition and the engineering of the Solar Power Tower Jülich. The open volumetric receiver technology allows the use of air as heat transfer medium at high temperatures in solar thermal power tower plants. It combines porous ceramic or metallic absorber structures with a strictly modular receiver design. Highly concentrated solar radiation is used to produce hot air as ‘firing’ for a steam rankine cycle. The advantages of this technology are simplicity and scalability, the ability to include a thermal storage, the low thermal capacity and a high efficiency potential. This receiver technology was developed in various joint projects of research and industry over the past years. It was tested and qualified in the worlds largest test center for concentrating solar power, the Plataforma Solar de Almería (PSA) in Southern Spain with a nominal power of 3 MW incident radiation. In June 2006 it was decided to build a tower power plant with thermal storage in Jülich, Germany, with a design power of 1,5 MWe. The objectives of this plant are to test and demonstrate the solar air technology as a complete system, to develop control and plant management strategies and to improve the overall performance and reliability. The location in Germany was chosen as it is close to the research institutions involved and it allows the investigation of the system performance under fluctuating irradiation conditions. The Solar Power Tower Jülich is scheduled to start operation by the end of 2008. The five year project comprises design, construction and a two year test operation phase, accompanied by an intensive R&D program. The experiences of this project will be a vital step towards a successful market introduction.