Sex differences in long-term outcomes after traumatic injury: A mediation analysis

Background: We sought to examine the association and potential mediators between sex and long-term trauma outcomes.Methods: Moderately-to-severely injured patients admitted to 3 level-1 trauma centers were contacted between 6 and 12-months post-injury to assess for functional limitations, use of pain medications, and posttraumatic stress disorder (PTSD). Multivariable adjusted regression analyses were used to compare long-term outcomes by sex. Potential mediators of the relationship between sex and outcomes was explored using mediation analysis.Results: 2607 patients were followed, of which 45% were female. Compared to male, female patients were more likely to have functional limitations (OR: 1.45; 95% CI: 1.31-1.60), take pain medications (OR: 1.17; 95% CI: 1.02-1.38), and screen positive for PTSD (OR: 1.60; 95% CI: 1.46-1.76) post-injury. Age, extremity injury, previous psychiatric illness, and pre-injury unemployment, partially mediated the effect of female sex on long-term outcomes.Conclusions: There are significant sex differences in long-term trauma outcomes, which are partially driven by patient and injury-related factors

A multicenter study of post-traumatic stress disorder after injury: Mechanism matters more than injury severity

Background: Traumatic injury is strongly associated with long-term mental health disorders, but the risk factors for developing these disorders are poorly understood. We report on a multi-institutional collaboration to collect long-term patient-centered outcomes after trauma, including screening for post-traumatic stress disorder. The objective of this study is to determine the prevalence of and risk factors for the development of post-traumatic stress disorder after traumatic injury. Methods: Adult trauma patients (aged 18-64) with moderate to severe injuries (Injury Severity Score ≥ 9) admitted to 3 level I trauma centers were screened between 6 and 12 months after injury for post-traumatic stress disorder. Patients were divided by mechanism: fall, road traffic injury, and intentional injury. Multiple logistic regression models were used to determine the association between baseline patient and injury-related characteristics and the development of post-traumatic stress disorder for the overall cohort and by mechanism of injury. Results: A total of 450 patients completed the screen. Overall 32% screened positive for post-traumatic stress disorder, but this differed significantly by mechanism, with the lowest being after a fall (25%) and highest after intentional injury (60%). Injury severity was not associated with post-traumatic stress disorder for any group, but lower educational level was associated with post-traumatic stress disorder within all the groups. Only 21% of patients who screened positive for post-traumatic stress disorder were receiving treatment at the time of the survey. Conclusion: Post-traumatic stress disorder is common after traumatic injury, and the prevalence varies significantly by injury mechanism but is not associated with injury severity. Only a small proportion of patients who screen positive for post-traumatic stress disorder are currently receiving treatmen

Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities

Nucleoporins (NUPs) are an essential component of the nuclear-pore complex, which regulates nucleocytoplasmic transport of macromolecules. Pathogenic variants in NUP genes have been linked to several inherited human diseases, including a number with progressive neurological degeneration. We present six affected individuals with bi-allelic truncating variants in NUP188 and strikingly similar phenotypes and clinical courses, representing a recognizable genetic syndrome; the individuals are from four unrelated families. Key clinical features include congenital cataracts, hypotonia, prenatal-onset ventriculomegaly, white-matter abnormalities, hypoplastic corpus callosum, congenital heart defects, and central hypoventilation. Characteristic dysmorphic features include small palpebral fissures, a wide nasal bridge and nose, micrognathia, and digital anomalies. All affected individuals died as a result of respiratory failure, and five of them died within the first year of life. Nuclear import of proteins was decreased in affected individuals' fibroblasts, supporting a possible disease mechanism. CRISPR-mediated knockout of NUP188 in Drosophila revealed motor deficits and seizure susceptibility, partially recapitulating the neurological phenotype seen in affected individuals. Removal of NUP188 also resulted in aberrant dendrite tiling, suggesting a potential role of NUP188 in dendritic development. Two of the NUP188 pathogenic variants are enriched in the Ashkenazi Jewish population in gnomAD, a finding we confirmed with a separate targeted population screen of an international sampling of 3,225 healthy Ashkenazi Jewish individuals. Taken together, our results implicate bi-allelic loss-of-function NUP188 variants in a recessive syndrome characterized by a distinct neurologic, ophthalmologic, and facial phenotype

Celebrating the Social in Soccer: Spectators’ Experiences of the Forgotten (Blind) Football World Cup

Sporting spaces draw together distinct social assortments. Football (in various forms), for example, generates specific types of spectators and spectator behaviours. Cognizant of this work, our paper examines the 2010 World Blind Football Championships (WBFC) and its spectatorship. We conducted semi-structured interviews, orientated around perceptions of disability/disability sport, with 285 spectators. The thrust of our paper is that the event affords spectators opportunities to better understand, appreciate and engage with the experiences of athletes with a disability. We argue that the unique context of blind football competitions (characterized here as an unthreatening, convivial, often familial-like, and somewhat parochial space) resulted in positive spectator experiences. We conclude that within the framework of bridging social capital, this unique sporting space afforded the creation of relationships between the athletes (and the sport) and the spectators, two groups previously separated by social distance