A genomic region on distal mouse chromosome 1 and its syntenic human counterpart 1q23-42 show strong evidence of harboring lupus susceptibility genes. We found evidence of linkage at 1q32.2 in a targeted genome scan of 1q21-43 in 126 lupus multiplex families containing 151 affected sibpairs (nonparametric linkage score 2.52, P ؍ 0.006). A positional candidate gene at 1q32.2, complement receptor 2 (CR2), is also a candidate in the murine Sle1c lupus susceptibility locus. To explore its role in human disease, we analyzed 1,416 individuals from 258 Caucasian and 142 Chinese lupus simplex families and demonstrated that a common three-single-nucleotide polymorphism CR2 haplotype (rs3813946, rs1048971, rs17615) was associated with lupus susceptibility (P ؍ 0.00001) with a 1.54-fold increased risk for the development of disease. Single-nucleotide polymorphism 1 (rs3813946), located in the 5 untranslated region of the CR2 gene, altered transcriptional activity, suggesting a potential mechanism by which CR2 could contribute to the development of lupus. Our findings reveal that CR2 is a likely susceptibility gene for human lupus at 1q32.2, extending previous studies suggesting that CR2 participates in the pathogenesis of systemic lupus erythematosus.linkage ͉ disease susceptibility ͉ antoimmunity ͉ single-nucleotide polymorphisms ͉ syntenic conservation
This study investigated prevalence and risk factors for suicidal ideation among adults with self-reported disability in Western Canada. The method was secondary data analysis utilising the Canadian Community Health Survey. The odds of 12-month suicidal ideation are 3.5 times greater for adults with self-reported disability compared with non-disabled adults, controlling for age, sex, ethnicity, and psychiatric morbidity. The heightened risk of ideation among adults with self-reported disability is partially explained by social adversity, including food insecurity and low sense of community belonging. Reducing suicide risk among adults with disability requires a broad-spectrum approach, including mental health care, and strategies to ameliorate social and economic hardship.
Currently, adolescents with autism spectrum disorder are rarely active participants in the goal setting process. This study provides novel data, from the perspectives of multiple stakeholders, about barriers, perceptions, and actualities related to autonomous goal setting for adolescents with autism spectrum disorder. Implications for rehabilitation Adolescent participation in autonomous goal setting is an important component of self-determination. Rehabilitation professionals, parents, and adolescents with autism spectrum disorder identified similar barriers to autonomous goal setting. Adolescents with autism spectrum disorder described goals as short-term, concrete tasks, whereas parents perceived involvement in goal setting as a gateway to long-term self-determination. Rehabilitation professionals and parents acknowledged the benefits and advocated for increased involvement of adolescents with autism spectrum disorder in the goal setting process. Similar to the paradigm shift toward family-centered care, rehabilitation professionals need to shift to include the involvement and participation of individuals with autism spectrum disorder.
Background A growing interest has centered on digital storytelling in health research, described as a multi-media presentation of a story using technology. The use of digital storytelling in knowledge translation (KT) is emerging as technology advances in healthcare to address the challenging tasks of disseminating and transferring knowledge to key stakeholders. We conducted a scoping review of the literature available on the use of patient digital storytelling as a tool in KT interventions. Methods We followed by Arksey and O’Malley (Int J Soc Res Methodol 8(1):19–32, 2005), and Levac et al. (Implement Sci 5(1):69, 2010) recommended steps for scoping reviews. Search strategies were conducted for electronic databases (Medline, CINAHL, Web of Science, ProQuest dissertations and theses global, Clinicaltrials.gov and Psychinfo). The Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for scoping reviews (PRISMA-ScR) was used to report the review process. Results Of 4656 citations retrieved, 114 full texts were reviewed, and twenty-one articles included in the review. Included studies were from nine countries and focused on an array of physical and mental health conditions. A broad range of interpretations of digital storytelling and a variety of KT interventions were identified. Digital storytelling was predominately defined as a story in multi-media form, presented as a video, for selective or public viewing and used as educational material for healthcare professionals, patients and families. Conclusion Using digital storytelling as a tool in KT interventions can contribute to shared decision-making in healthcare and increase awareness in patients’ health related experiences. Concerns centered on the accuracy and reliability of some of the information available online and the impact of digital storytelling on knowledge action and implementation.
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