Real-world environmental enrichment rehabilitation paradigm in people with severe traumatic brain injury: a pilot feasibility study.

BACKGROUND: The use of Environmental Enrichment (EE) has been widely studied in animal models. However, the application of the same in humans is limited to rehabilitation settings. OBJECTIVE: To investigate the feasibility of a community-based EE paradigm in adults with brain injury. METHODS: Six individuals diagnosed with traumatic brain injury enrolled in the study. The Go Baby Go Café instrumented with a body weight harness system, provided physical and social enrichment as participants performed functional tasks for 2 hours, three times a week, for 2 months. Feasibility and safety outcomes were recorded throughout sessions. Clinical measures including 10-meter walk, timed up and go, jebsen hand function, 6-minute walk, and trail making tests were obtained pre and post intervention. RESULTS: All participants completed the study. The attendance was 100% and adherence was 87%. Positive changes in clinical measures were statistically significant for the timed up and go (p = 0.0175), TUG-cognitive (p = 0.0064), 10-meter walk (p = 0.0428), six-minute walk (p = 0.0196), TMT-A (p = 0.034). Changes in JHFT were not significant (p = 0.0506), with one subject recording values counter to the trend. CONCLUSION: The Café was a comprehensive EE-based intervention that was feasible, safe, and has the potential to enhance motor and cognitive function in individuals with brain injury.

Collegiate student-athletes concussion knowledge and attitudes: what a difference a decade Makes.

OBJECTIVE: The purpose of this study was to assess changes in concussion knowledge and attitudes amongst incoming intercollegiate student-athletes over the course of a decade (2010-2012 vs 2021-2023). METHODS: There were 592 student-athletes from 2 cohorts (2010-2012, 2021-2023) who completed the Rosenbaum Concussion Knowledge and Attitudes Survey (ROCKaS) questionnaire which is comprised of a concussion knowledge index (CKI, 0-24) and attitude index (CAI, 15-75) with higher scores reflecting better performance. A three factor ANOVA (Group, Sex, Concussion History) compared performance on the CKI and CAI. Individual questions were compared between groups with a Chi-Square analysis. RESULTS: For the CKI, there was a significant main effect for Group (2010-2012: 18.5 ± 2.6, 2021-2023: 19.4 ± 2.5, p < 0.001, η2=0.032). For the CAI, there was also a significant main effect for group (2010-2012: 52.9 ± 6.0, 2021-2023: 62.2 ± 6.5, p < 0.001, η2=0.359). CONCLUSIONS: The results of this study show a modest increase in concussion knowledge; however, large improvements in concussion attitudes were observed between groups. These results suggest a continued improvement in student-athlete concussion awareness and provide specific areas to continue addressing persistent misconceptions.

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.

Purpose: The retina-specific ABCA transporter, ABCA4, plays an essential role in translocating retinoids required by the visual cycle. ABCA4 genetic variants are known to cause a wide range of inherited retinal disorders, including Stargardt disease and cone-rod dystrophy. More than 1,400 ABCA4 missense variants have been identified; however, more than half of these remain variants of uncertain significance (VUS). The purpose of this study was to employ a predictive strategy to assess the pathogenicity of ABCA4 variants in inherited retinal diseases using protein modeling and computational approaches. Methods: We studied 13 clinically well-defined patients with ABCA4 retinopathies and identified the presence of 10 missense variants, including one novel variant in the ABCA4 gene, by next-generation sequencing (NGS). All variants were structurally analyzed using AlphaFold2 models and existing experimental structures of human ABCA4 protein. The results of these analyses were compared with patient clinical presentations to test the effectiveness of the methods employed in predicting variant pathogenicity. Results: We conducted a phenotype-genotype comparison of 13 genetically and phenotypically well-defined retinal disease patients. The in silico protein structure analyses we employed successfully detected the deleterious effect of missense variants found in this affected patient cohort. Our study provides American College of Medical Genetics and Genomics (ACMG)-defined supporting evidence of the pathogenicity of nine missense ABCA4 variants, aligning with the observed clinical phenotypes in this cohort. Conclusions: In this report, we describe a systematic approach to predicting the pathogenicity of ABCA4 variants by means of three-dimensional (3D) protein modeling and in silico structure analysis. Our results demonstrate concordance between disease severity and structural changes in protein models induced by genetic variations. Furthermore, the present study suggests that in silico protein structure analysis can be used as a predictor of pathogenicity and may facilitate the assessment of genetic VUS.