Abelupchurch8978

The prevalence of psychiatric disorders in people with Intellectual Disability (ID) is statistically higher than in the general population. There is a lack of consensus on the role that epilepsy plays in psychiatric disorders in people with ID. We carried out a systematic review of articles published between 1960 and 2022, focusing on high-quality, case-control original research studies that only included adult populations. The primary outcome was the prevalence of psychiatric disorders in people with intellectual disability with and without epilepsy. Six articles were finally included. Results were varied; some reported a statistical increase, whereas others did not find any statistical difference. Due to the current controversy on the role of epilepsy in psychiatric disorders in people with ID and the small number of publications on the topic, we cannot affirm a relationship between epilepsy and psychiatric disorders in people with ID.Disease development and progression are often associated with aberrant glycosylation, indicating that changes in biological fluid glycome may potentially serve as disease signatures. The corona virus disease-2019 (COVID-19) pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) represents a significant threat to global human health. However, the effect of SARS-CoV-2 infection on the overall serum N-glycomic profile has been largely unexplored. Here, we extended our 96-well-plate-based high-throughput, high-sensitivity N-glycan profiling platform further with the aim of elucidating potential COVID-19-associated serum N-glycomic alterations. Use of this platform revealed both similarities and differences between the serum N-glycomic fingerprints of COVID-19 positive and control cohorts. Although there were no specific glycan peaks exclusively present or absent in COVID-19 positive cohort, this cohort showed significantly higher levels of glycans and variability. On the contrary, the overall N-glycomic profiles for healthy controls were well-contained within a narrow range. From the serum glycomic analysis, we were able to deduce changes in different glycan subclasses sharing certain structural features. Of significance was the hyperbranched and hypersialylated glycans and their derived glycan subclass traits. T-distributed stochastic neighbor embedding and hierarchical heatmap clustering analysis were performed to identify 13 serum glycomic variables that potentially distinguished the COVID-19 positive from healthy controls. Such serum N-glycomic changes described herein may indicate or correlate to the changes in serum glycoproteins upon COVID-19 infection. Furthermore, mapping the serum N-glycome following SARS-CoV-2 infection may help us better understand the disease and enable "Long-COVID" surveillance to capture the full spectrum of persistent symptoms.Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations have been established for specific ATL1 variants. Confronted with five children carrying de novo ATL1 variants showing early, complex and severe symptoms, we systematically investigated the molecular and phenotypic spectrum of HSP-ATL1. Through a cross-sectional analysis of 537 published and novel cases, we delineate a distinct phenotype observed in patients with de novo variants. Guided by this systematic phenotyping approach and structural modelling of disease-associated variants in atlastin-1, we demonstrate that this distinct phenotypic signature is also prevalent in a subgroup of patients with inherited ATL1 variants and is largely explained by variant localization within a three-dimensional mutational cluster. Establishing genotype-phenotype correlations, we find that symptoms that extend well beyond the typical pure HSP phenotype (i.e. neurodevelopmental abnormalities, upper limb spasticity, bulbar symptoms, peripheral neuropathy and brain imaging abnormalities) are prevalent in patients with variants located within this mutational cluster.Metal-halide perovskites have been explored as photocatalysts for CO2 reduction. We report that perovskite photocatalytic CO2 reduction in organic solvents is likely problematic. Instead, the detected products (i.e., CO) likely result from a photoredox organic transformation involving the solvent. Our observations have been validated using isotopic labeling experiments, band energy analysis, and new control experiments. We designed a typical perovskite photocatalytic setup in organic solvents that led to CO production of up to ≈1000 μmol g-1  h-1 . CO2 reduction in organic solvents must be studied with extra care because photoredox organic transformations can produce orders of magnitude higher rate of CO or CH4 than is typical for CO2 reduction routes. Though CO2 reduction is not likely to occur, in situ CO generation is extremely fast. Hence a suitable system can be established for challenging organic reactions that use CO as a feedstock but exploit the solvent as a CO surrogate.The complex pathogenesis of rheumatoid arthritis (RA) is not fully understood, with few studies exploring the genomic contribution to RA in patients from Africa. We report a genome-wide association study (GWAS) of South-Eastern Bantu-Speaking South Africans (SEBSSAs) with seropositive RA (n = 531) and population controls (n = 2653). Association testing was performed using PLINK (logistic regression assuming an additive model) with sex, age, smoking and the first three principal components as covariates. The strong association with the Human Leukocyte Antigen (HLA) region, indexed by rs602457 (near HLA-DRB1), was replicated. An additional independent signal in the HLA region represented by the lead SNP rs2523593 (near the HLA-B gene; Conditional P-value = 6.4 × 10-10) was detected. Although none of the non-HLA signals reached genome-wide significance (P  less then  5 × 10-8), 17 genomic regions showed suggestive association (P  less then  5 × 10-6). The GWAS replicated two known non-HLA associations with MMEL1 (rs2843401) and ANKRD55 (rs7731626) at a threshold of P  less then  5 × 10-3 providing, for the first time, evidence for replication of non-HLA signals for RA in sub-Saharan African populations. Meta-analysis with summary statistics from an African-American cohort (CLEAR study) replicated three additional non-HLA signals (rs11571302, rs2558210 and rs2422345 around KRT18P39-NPM1P33, CTLA4-ICOS and AL645568.1, respectively). Analysis based on genomic regions (200 kb windows) further replicated previously reported non-HLA signals around PADI4, CD28 and LIMK1. Although allele frequencies were overall strongly correlated between the SEBSSA and the CLEAR cohort, we observed some differences in effect size estimates for associated loci. The study highlights the need for conducting larger association studies across diverse African populations to inform precision medicine-based approaches for RA in Africa.This paper presents a novel approach for designing a robotic orthosis controller considering physical human-robot interaction (pHRI). Computer simulation for this human-robot system can be advantageous in terms of time and cost due to the laborious nature of designing a robot controller that effectively assists humans with the appropriate magnitude and phase. Therefore, we propose a two-stage policy training framework based on deep reinforcement learning (deep RL) to design a robot controller using human-robot dynamic simulation. In Stage 1, the optimal policy of generating human gaits is obtained from deep RL-based imitation learning on a healthy subject model using the musculoskeletal simulation in OpenSim-RL. In Stage 2, human models in which the right soleus muscle is weakened to a certain severity are created by modifying the human model obtained from Stage 1. A robotic orthosis is then attached to the right ankle of these models. The orthosis policy that assists walking with optimal torque is then trained on these models. Here, the elastic foundation model is used to predict the pHRI in the coupling part between the human and robotic orthosis. Comparative analysis of kinematic and kinetic simulation results with the experimental data shows that the derived human musculoskeletal model imitates a human walking. TubastatinA It also shows that the robotic orthosis policy obtained from two-stage policy training can assist the weakened soleus muscle. The proposed approach was validated by applying the learned policy to ankle orthosis, conducting a gait experiment, and comparing it with the simulation results.The force-generating capacity of skeletal muscle is an important metric in the evaluation and diagnosis of musculoskeletal health. Measuring changes in muscle force exertion is essential for tracking the progress of athletes during training, for evaluating patients' recovery after muscle injury, and also for assisting the diagnosis of conditions such as muscular dystrophy, multiple sclerosis, or Parkinson's disease. Traditional hardware for strength evaluation requires technical training for operation, generates discrete time points for muscle assessment, and is implemented in controlled settings. The ability to continuously monitor muscle force without restricting the range of motion or adapting the exercise protocol to suit specific hardware would allow for a richer dataset that can help unlock critical features of muscle health and strength evaluation. In this paper, we employ wearable, ultra-sensitive soft strain sensors for tracking changes in muscle deformation during contractions. We demonstrate the sensors' sensitivity to isometric contractions, as well as the sensors' capacity to track changes in peak torque over the course of an isokinetic fatiguing protocol for the knee extensors. The wearable soft system was able to efficiently estimate peak joint torque reduction caused by muscle fatigue (mean NRMSE = 0.15±0.03 ).To prevent lower back pain (LBP) in the industrial workplace, various powered back support exoskeletons (BSEs) have been developed. However, conventional kinematics-triggered assistance (KA) strategies induce latency, degrading assistance efficiency. Therefore, we proposed and experimentally evaluated a surface electromyography (sEMG)-triggered assistance (EA) strategy. Nine healthy subjects participated in the lifting experiments 1) external loads test, 2) extra latency test, and 3) repetitive lifting test. In the external loads test, subject performed lifting with four different external loads (0 kg, 7.5 kg, 15 kg, and 22.5 kg). The assistance was triggered earlier by EA compared to KA from 114 ms to 202 ms, 163 ms to 269 ms for squat and stoop lifting respectively, as external loads increased from 0 kg to 22.5 kg. In the extra latency test, the effects of extra latency (manual switch, 0 ms, 100 ms and 200 ms) in EA on muscle activities were investigated. Muscle activities were minimized in the fast assistance (0 ms and 100 ms) condition and increased with extra latency. In the repetitive lifting test, the EA strategy significantly reduced L1 muscle fatigue by 70.4% in stoop lifting, compared to KA strategy. Based on the experimental results, we concluded that fast assistance triggered by sEMG improved assistance efficiency in BSE and was particularly beneficial in heavy external loads situations. The proposed assistive strategy can be used to prevent LBP by reducing back muscle fatigue and is easily applicable to various industrial exoskeleton applications.