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IntroductionTP73 was recently identified as a novel causative gene for amyotrophic lateral sclerosis (ALS). We aimed to determine the contribution of variations in TP73 in the Chinese ALS population and to further explore the genotype-phenotype correlations.MethodsWe screened rare, putative pathogenic TP73 mutations in a large Chinese ALS cohort and performed association analysis of both rare and common TP73 variations between cases and controls.ResultsOf the 985 ALS patients studied, six rare, heterozygous putative pathogenic variants in TP73 were identified among six unrelated sALS patients. Exon 14 of TP73 might be a mutant hotspot in our cohort. Patients with ALS with only rare, putative pathogenic TP73 mutations exhibited a characteristic clinical profile. Patients harboring multiple mutations in TP73 and other ALS-related genes displayed a significantly earlier onset of ALS. Association analysis revealed that rare TP73 variants in the untranslated regions (UTRs) were enriched among ALS patients; meanwhile, two common variants in the exon-intron boundary were discovered to be associated with ALS.DiscussionWe demonstrate that TP73 variations also have contributed to ALS in the Asian population and broaden the genotypic and phenotypic spectrum of TP73 variants in the ALS-frontotemporal dementia (FTD) spectrum. Furthermore, our findings first suggest that TP73 is not only a causative gene, but also exerts a disease-modifying effect. These results may contribute to a better understanding of the molecular mechanism of ALS.

ObjectivesTo investigate the effect of regional white matter hyperintensities (WMHs) on Essential tremor (ET) subtypes and to explore the association between WMHs load and the severity of motor and non-motor symptoms in patients with ET.MethodsA cohort of 176 patients with ET (including 86 patients with pure ET and 90 patients with ET plus) and 91 normal controls (NC) was consecutively recruited. Demographic, clinical, and imaging characteristics were compared between individuals with pure ET, ET plus, and NC. The cross-sectional association among regional WMHs and the severity of tremor and non-motor symptoms were assessed within each group.ResultsCompared with the pure ET subgroup, the ET plus subgroup demonstrated higher TETRAS scores, NMSS scores, and lower MMSE scores (all P < 0.05). Periventricular and lobar WMHs' loads of pure ET subgroup intermediated between NC subjects and ET plus subgroup. WMHs in the frontal horn independently increased the odds of ET (OR = 1.784, P < 0.001). The age (P = 0.021), WMHs in the frontal lobe (P = 0.014), and WMHs in the occipital lobe (P = 0.020) showed a significant impact on TETRAS part II scores in the ET plus subgroup. However, only the disease duration was positively associated with TETRAS part II scores in patients with pure ET (P = 0.028). In terms of non-motor symptoms, NMSS scores of total patients with ET were associated with disease duration (P = 0.029), TETRAS part I scores (P = 0.017), and WMH scores in the frontal lobe (P = 0.033). MMSE scores were associated with age (P = 0.027), body mass index (P = 0.006), education level (P < 0.001), and WMHs in the body of the lateral ventricle (P = 0.005).ConclusionOur results indicated that the WMHs in the frontal horn could lead to an increased risk of developing ET. WMHs may be used to differentiate pure ET and ET plus. Furthermore, WMHs in the frontal and occipital lobes are strong predictors of worse tremor severity in the ET plus subgroup. Regional WMHs are associated with cognitive impairment in patients with ET.

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.

Additional file 1: Fig. S1. Schematic representation of the KIF1A protein with the RDVs identified in controls. Fig. S2. Interaction between RAB3A and the KIF1A motor. Fig. S3. Interaction between VAMP2 and the KIF1A motor. Fig. S4. ALS-associated KIF1A variants alter binding to synaptophysin. Table S1. Primers in constructing plasmid. Table S2. Details of RDVS in the KIF1A gene identified in ALS patients and healthy controls. Table S3. In-silico pathogenicity predictions for RDVs in the KIF1A gene. Table S4. Clinical features in ALS patients carrying RDVs in the KIF1A gene.

Purpose The purpose of this paper is to verify the feasibility of lunar capture braking through three methods based on particle swarm optimization (PSO) and compare the advantages and disadvantages of the three strategies by analyzing the results of the simulation. Design/methodology/approach The paper proposes three methods to verify capture braking based on PSO. The constraints of the method are the final lunar orbit eccentricity and the height of the final orbit around the Moon. At the same time, fuel consumption is used as a performance indicator. Then, the PSO algorithm is used to optimize the track of the capture process and simulate the entire capture braking process. Findings The three proposed braking strategies under the framework of PSO algorithm are very effective for solving the problem of lunar capture braking. The simulation results show that the orbit in the opposite direction of the trajectory has the most serious attenuation at perilune, and it should consume the least amount of fuel in theoretical analysis. The methods based on the fixed thrust direction braking and thrust uniform rotation braking can better ensure the final perilune control accuracy and fuel consumption. As for practice, the fixed thrust direction braking method is better realized among the three strategies. Research limitations/implications The process of lunar capture is a complicated process, involving effective coordination between multiple subsystems. In this article, the main focus is on the correctness of the algorithm, and a simplified dynamic model is adopted. At the same time, because the capture time is short, the lunar curvature can be omitted. Furthermore, to better compare the pros and cons of different braking modes, some influence factors and perturbative forces are not considered, such as the Earth’s flatness, light pressure and system noise and errors. Practical implications This paper presents three braking strategies that can satisfy all the constraints well and optimize the fuel consumption to make the lunar capture more effective. The results of comparative analysis demonstrate that the three strategies have their own superiority, and the fixed thrust direction braking is beneficial to engineering realization and has certain engineering practicability, which can also provide reference for lunar exploration orbit design. Originality/value The proposed capture braking strategies based on PSO enable effective capture of the lunar module. During the lunar exploration, the capture braking phase determines whether the mission will be successful or not, and it is essential to control fuel consumption on the premise of accuracy. The three methods in this paper can be used to provide a study reference for the optimization of lunar capture braking.

More and more wheeled planetary probes have been applied to exploration missions in order to realize the exploration of extraterrestrial planets. In order to ensure the ability to perform tasks in complex environments, planetary vehicles need the ability of autonomous path planning and obstacle avoidance. In this paper, RRT* and dynamic window approach are combined to complete autonomous path planning and dynamic obstacle avoidance under the dynamic environment with some prior map information. The simulation and physical verification under ROS development platform and Jackal unmanned vehicle platform are realized. It provides ideas for path planning and obstacle avoidance of unmanned planetary vehicles in static and dynamic environments.

Motivated by the requirement for pinpoint landing in the future Mars missions, this paper presents a convex programming algorithm for the numerical solution of the minimum fuel powered descent guidance problem. For the engine’s variable thrust, based on factors like amplitude of the thruster, the Martian surface constraint, descent inclination, this paper describes the problem of fuel-optimal precise soft landing at the power descent phase and gives the corresponding equivalent optimization problem; then the equivalent optimization problem is discretized and converted to the optimization problem with consideration of linear constraints and second order cone constraints. Finally, through the simulation analysis of typical-fuel optimal landing trajectory, it can be concluded: the resulting guidance algorithm can potentially be implemented onboard a spacecraft for real-time application.

TiO2, molecularly imprinted TiO2 (TiO2/OTC) and a novel Si doped molecularly imprinted TiO2 (TiO2/SiO2/OTC) nano photocatalytic materials were prepared by liquid phase deposition method. The products were characterized by XRD and SEM. The photocatalytic activities of the samples were evaluated by the photocatalytic degradation of oxytetracycline wastewater under a xenon lamp irradiation. The results showed that TiO2/SiO2/OTC and TiO2/OTC could improve both the photocatalytic activity and the molecular recognition ability, while the photocatalytic activities of TiO2/SiO2/OTC sample was more effective than TiO2/OTC sample with 5 times reuse. The photocatalytic activity of TiO2/SiO2/OTC photocatalyst sample had a greater improvement and its photocatalytic degradation of oxytetracycline wastewater reached 80.79% in 120 minute reaction.

This paper addresses the problems of autonomous task assignment and path planning for a fleet of heterogeneous unmanned aerial vehicles in cooperative mission. In previous work many algorithms almost run on centralized architecture and handle the task assignment decoupling with the path planning. This may result in poor solutions. Therefore, this paper investigates a novel integrated solution for UAV to perform multiple consecutive tasks cooperatively on multiple ground targets based on distributed planning architecture. In a given scenario, the heterogeneous vehicles have different capabilities, kinematic constraints, and fuel constraints. Furthermore, the task has other constraints, such as task execution orders, UAV conflict free constraints, etc. This paper presents details of the non-decoupling solution which produces optimal assignment and trajectories for several given scenarios. The performance of the algorithm is compared to that of some previous methods in real-time simulation environment. The simulations results show the viability of the non-decoupling approach, and the non-decoupling solution has an advantage over hierarchical algorithms, and the distributed architecture improves the operation efficiency of the algorithm and the robustness of the UAV.

The control of sliding mode variable structure has become one of an important in the modern control theories. It is also widely concerned by scholars at home and abroad due to its complete robustness such as its perturbation on system parameters, external disturbance and system uncertainty. This paper establishes the mathematical model for spacecraft based on error quaternion, derives the sliding-mode control law based on Lyapunov function by selecting appropriate sliding model and effectively weakens the buffeting by means of boundary layer approach. According to theoretical analysis and system simulation, the sliding-mode controller so designed is provided with robustness and overall stability under circumstances of parameter changes and external disturbances.

This paper researches the manually controlled site reselection focusing on the approaching phase and landing phase of soft landing of manned lunar landing. First, this paper introduces the phase division of manned lunar landing, establishes the kinetic model for lunar module and then makes research on the manual control site selection scheme under TV guidance. In the TV guidance scheme, the astronaut can directly select new lunar landing point within the field of view. The target guidance is achieved by automatic control system. Meanwhile, the impact of response delay of the astronaut on tasks in actual execution is considered. According to the simulation results of the guidance scheme, as the TV guidance is not restricted by the angle of sight, the adjustable range of the landing point is relatively great. Meanwhile, TV guidance has relatively great requirements on the attitude maneuver. In addition, the earlier the site reselection made by the astronaut, the greater the adjustable range of the landing point is.

The energy transfer process of vehicle horn were analyzed through the energetic coil current, magnetic force, and displacement curves which had gotten before, and the process was happened in stage of the action, transaction and reciprocating vibration. The conclusions are of great value for further optimizing of reliability of the electro acoustic device such as electromagnetic horn.

Variations in vegetation cover and its response to global warming are important to understand the interaction between Ecology system and Climate system. Using temperature dataset from Climatic Research Unit (CRU) TS3.0 and the Normalized Difference Vegetation Index (NDVI) from NOAA/AVHRR, the trends of annual mean temperature and annual mean NDVI over Shaanxi province of China were investigated during the period from 1982 to 2006. The results show that the increasing trends of temperature and NDVI were both evident. The correlation coefficient between temperature and NDVI was 0.534 (P