Genetic mutation spectrum of pantothenate kinase-associated neurodegeneration expanded by breakpoint sequencing in pantothenate kinase 2 gene

Abstract Background Neurodegeneration with brain iron accumulation describes a group of rare heterogeneous progressive neurodegenerative disorders characterized by excessive iron accumulation in the basal ganglia region. Pantothenate kinase-associated neurodegeneration (PKAN) is a major form of this disease. Results A total of 7 unrelated patients were diagnosed with PKAN in a single tertiary center from August 2009 to February 2018. Ten variants in PANK2 including three novel sequence variants and one large exonic deletion were detected. Sequencing of the breakpoint was performed to predict the mechanism of large deletion and AluSx3 and AluSz6 were found with approximately 97.3% sequence homology. Conclusion The findings support the disease-causing role of PANK2 and indicate the possibility that exonic deletion of PANK2 found in PKAN is mediated through Alu-mediated homologous recombination

Analysis and prevention of dent defects formed during strip casting of twin-induced plasticity steels

Rapid-solidification experiments were conducted for understanding dent defects formed during strip casting of twin-induced plasticity (TWIP) steels. The rapid-solidification experiments reproduced the dent defects formed on these steels, which were generally located at valleys of the shot-blasted roughness on the substrate. The rapid-solidification experiment results reveal that the number of dips, the Mn content of the steel, and the surface roughness of the substrate affect the depth and size of dents formed on the solidified-shell surfaces, while the composition of the atmosphere gases and the carbon content of the steel are not factors. The formation of dents was attributed to the entrapment of gases inside the roughness valleys of the substrate surface and their volume expansion due to the temperature of the steel melt and the latent heat. The dents could be prevented when the thermal expansion of gases was suppressed by making longitudinal grooves on the substrate surface, which allowed the entrapped gases to escape. Sound solidified shells were obtained by optimizing the width and depth of the longitudinal grooves and by controlling the shot-blasting conditions.ope

Future Transformer for Long-term Action Anticipation

The task of predicting future actions from a video is crucial for a real-world agent interacting with others. When anticipating actions in the distant future, we humans typically consider long-term relations over the whole sequence of actions, i.e., not only observed actions in the past but also potential actions in the future. In a similar spirit, we propose an end-to-end attention model for action anticipation, dubbed Future Transformer (FUTR), that leverages global attention over all input frames and output tokens to predict a minutes-long sequence of future actions. Unlike the previous autoregressive models, the proposed method learns to predict the whole sequence of future actions in parallel decoding, enabling more accurate and fast inference for long-term anticipation. We evaluate our method on two standard benchmarks for long-term action anticipation, Breakfast and 50 Salads, achieving state-of-the-art results.Comment: Accepted to CVPR 202

Effect of Na and cooling rate on the activation of Mg-Ni alloys for hydrogen storage

In spite of favourable hydrogen storage properties such as low density, high theoretical capacity (7.6 wt% H/MgH2) and economics, commercial use of Mg-based alloys is not feasible due to long activation times, slow hydrogen sorption kinetics, and a high temperature for hydrogen release. Mg-Ni alloys have been considered promising materials for hydrogen storage systems as the Mg2Ni intermetallic phase enhances the kinetics of hydrogen absorption in Mg-Ni alloys through a catalytic effect. It has been suggested that the refinement of eutectic in Mg-Ni alloys can further improve hydrogen absorption kinetics and that this can be achieved through trace Na additions. However, the refinement of the eutectic can also be achieved by increasing the cooling rate during solidification. In this study we investigate the effect of cooling rate and Na additions to Mg-Ni alloys on hydrogen absorption kinetics. Our results indicate that Na additions improve the hydrogen absorption kinetics independent of eutectic refinement and that the effect of the latter is relatively small

The effect of Na addition on the first hydrogen absorption kinetics of cast hypoeutectic Mg-La alloys

With superior properties of Mg such as high hydrogen storage capacity (7.6 wt% H/MgH2), low price, and low density, Mg has been widely studied as a promising candidate for solid-state hydrogen storage systems. However, a harsh activation procedure, slow hydrogenation/dehydrogenation process, and a high temperature for dehydrogenation prevent the use of Mg-based metal hydrides for practical applications. For these reasons, Mg-based alloys for hydrogen storage systems are generally alloyed with other elements to improve hydrogen sorption properties. In this article, we have added Na to cast Mg-La alloys and achieved a significant improvement in hydrogen absorption kinetics during the first activation cycle. The role of Na in Mg-La has been discussed based on the findings from microstructural observations, crystallography, and first principles calculations based on density functional theory. From our results in this study, we have found that the Na doped surface of Mg-La alloy systems have a lower adsorption energy for H2 compared to Na-free surfaces which facilitates adsorption and dissociation of hydrogen molecules leading to improvement of absorption kinetic. The effect of Na on the microstructure of these alloys, such as eutectic refinement and a density of twins is not highly correlated with absorption kinetics

The Independent Effects of Cooling Rate and Na Addition on Hydrogen Storage Properties in Hypo-eutectic Mg Alloys

The addition of trace concentrations of elements such as Na and Sr along with rapid cooling is well-established method for modification of the faceted eutectic Si in Al–Si. There have been some efforts to extend this strategy to Mg-based alloys. For example, it has been reported that trace Na addition to Mg–Ni alloys can also refine the eutectic MgNi phase and facilitate functional property improvements such as hydrogen absorption kinetics. In this work, we have extended this strategy to a variety of other Mg-based alloys such as Mg–Ni and Mg–La alloys through the addition of trace elements and use of different cooling rates. The modification of the eutectic morphology in these alloys is discussed with regard to the Jackson parameters which were calculated using data from Thermo-Calc. The relationship between eutectic modification and hydrogen absorption kinetics in these alloys is investigated. The work has demonstrated, contrary to prior expectations, that microstructural refinement and hydrogen absorption kinetics are not necessarily correlated

A rational interpretation of solidification microstructures in the Mg-rich corner of the Mg–Al–La system

A range of alloys in the Mg rich corner of the Mg–Al–La ternary system have been cast to experimentally analyse the solidification microstructure. Discrepancies between our experimental observations and thermodynamic liquidus projection predictions were observed and revised solidification pathways have been confirmed in this study. The range of compositions that solidify with Mg as the primary phase is significantly smaller than what has been calculated by Pandat database (Mg 2018) but quite similar to that predicted by FactSage (FTlite). The revised solidification pathways are shown to be a useful tool for practical Mg–Al–La alloy design and avoiding the presence of the MgAl phase which has been associated with poor creep resistance of Mg–Al alloys