Background: SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant calling, and effect analysis amongst other methods. Findings: The first version appeared online 12 years ago and has been maintained and further developed ever since, with many new features and improvements added over the years. The SAMtools and BCFtools packages represent a unique collection of tools that have been used in numerous other software projects and countless genomic pipelines. Conclusion: Both SAMtools and BCFtools are freely available on GitHub under the permissive MIT licence, free for both non-commercial and commercial use. Both packages have been installed >1 million times via Bioconda. The source code and documentation are available from https://www.htslib.org.
Social connectedness in later life is an important dimension of an age-friendly community, with associated implications for individual health and wellbeing. In contrast with prior efforts focusing on connections at a distance or online communities where the digital technology is the interface, we explore the design opportunities and role of technology for connectedness within a geographically local community context. We present findings from interviews with 22 older adults and a linked ideation workshop. Our analysis identified shared concerns and negative perceptions around local relationships, connections and characteristics of the geographical area. However, local connectedness through technology was largely absent from day-to-day life and even perceived as contributing to disconnection. By uncovering how older adults use and perceive technology in their social lives and combining these findings with their ideas for improving local connections, we highlight the need for thoughtful consideration of the role of technology in optimising social connections within communities. Our research highlights a need for design work to understand the specifics of the local context and reduce emphasis on technology as the interface between people. We introduce an amended definition—‘underpinned by a commitment to respect and social inclusion, an age-friendly community is engaged in a strategic and ongoing process to facilitate active ageing by optimising the community’s physical, social and digital environments and its supporting infrastructure’—to conceptualise our approach. We conclude by suggesting areas for future work in developing digitally connected age-friendly communities.
Objectives To identify and map evidence about the consequences of unpaid caring for all carers of older people, and effective interventions to support this carer population. Design A rapid review of systematic reviews, focused on the consequences for carers of unpaid caring for older people, and interventions to support this heterogeneous group of carers. Reviews of carers of all ages were eligible, with any outcome measures relating to carers’ health, and social and financial well-being. Searches were conducted in MEDLINE, PsycInfo and Epistemonikos (January 2000 to January 2020). Records were screened, and included systematic reviews were quality appraised. Summary data were extracted and a narrative synthesis produced. Results Twelve systematic reviews reporting evidence about the consequences of caring for carers (n=6) and assessing the effectiveness of carer interventions (n=6) were included. The review evidence typically focused on mental health outcomes, with little information identified about carers’ physical, social and financial well-being. Clear estimates of the prevalence and severity of carer outcomes, and how these differ between carers and non-carers, were absent. A range of interventions were identified, but there was no strong evidence of effectiveness. In some studies, the choice of outcome measure may underestimate the full impact of an intervention. Conclusions Current evidence fails to fully quantify the impacts that caring for older people has on carers’ health and well-being. Information on social patterning of the consequences of caring is absent. Systematic measurement of a broad range of outcomes, with comparison to the general population, is needed to better understand the true consequences of caring. Classification of unpaid caring as a social determinant of health could be an effective lever to bring greater focus and support to this population. Further work is needed to develop and identify suitable interventions in order to support evidence-based policymaking and practice.
Objectives Clinical management of giant cell arteritis (GCA) involves balancing the risks and burdens arising from the disease with those arising from treatment, but there is little research on the nature of those burdens. We aimed to explore the impact of giant cell arteritis (GCA) and its treatment on patients’ lives. Methods UK patients with GCA participated in semi-structured telephone interviews. Inductive thematic analysis was employed. Results 24 participants were recruited (age: 65–92 years, time since diagnosis: 2 months to >6 years). The overarching themes from analysis were: ongoing symptoms of the disease and its treatment; and ‘life-changing’ impacts. The overall impact of GCA on patients’ lives arose from a changing combination of symptoms, side effects, adaptations to everyday life and impacts on sense of normality. Important factors contributing to loss of normality were glucocorticoid-related treatment burdens and fear about possible future loss of vision. Conclusions The impact of GCA in patients’ everyday lives can be substantial, multifaceted and ongoing despite apparent control of disease activity. The findings of this study will help doctors better understand patient priorities, legitimise patients’ experiences of GCA and work with patients to set realistic treatment goals and plan adaptations to their everyday lives.
The World Health Organization’s age-friendly city initiative emerged as a response to the intersecting global trends of population ageing and urbanisation. However, a third global trend—digitalisation—has largely been overlooked in research and policy making relating to age-friendly cities and communities. Within the context of a general shift towards online civic participatory activities, this article explores older adults’ digital citizenship in an age-friendly city in the North of England. Drawing on interviews, observations and field notes from design workshops as part of an ongoing participatory action research project, we consider two key questions. First, how does an age-friendly city stakeholder organisation of older adults make use of digital technologies in order to provide digital information and communications? Second, what is the potential of digital audio to increase civic participation in later life and local engagement with age-friendly issues? Our analysis focuses on two domains of the World Health Organization’s age-friendly city framework: Communication and information and civic participation. First, we report on the stakeholder organisation’s efforts to re-design their digital newsletter in order to provide information and communications to older residents about local work on ageing projects. We then outline the organisation’s efforts, in a public setting, to engage with digital audio as a way to increase the participation of older residents with age-friendly topics. We conclude by suggesting the need to re-frame the role of digital technologies within the age-friendly city, broadening the scope from accessibility towards enhancing digital citizenship opportunities.
Permanent vision loss is one of the most serious complications of giant cell arteritis (GCA) and therefore prompt diagnosis is paramount. However, diagnosis of GCA remains challenging due to its frequently non-specific presentation. Our aim was to identify differences in the characteristics of GCA patients with, and without, current visual symptoms. A cross-sectional survey was mailed to patients with a GCA Read code entered in their GP electronic medical record. Responders were categorised as those currently reporting a visual symptom or not. We compared general and GCA-specific characteristics in these two groups. The association of diagnostic delay with subsequent experience of visual symptoms was examined using unadjusted and adjusted linear regression analysis. 318 GCA patients responded to the survey (59.6%). Responders were predominantly female (69.8%), with a mean age of 73.7 years (SD 8.2). 28% reported current visual symptoms. There was no statistically significant difference in the general characteristics between those with and without visual symptoms. Of GCA-specific characteristics, pre-GCA diagnosis of diplopia (p = 0.018), temporary (p ≤ 0.001) or permanent visual problems (p = 0.001) and hoarseness (p = 0.004) were more common among those reporting current visual symptoms. There was no association between the extent of diagnostic delay and reporting of current visual symptoms. Though we found few characteristics to distinguish between GCA patients with or without current visual symptoms, diagnostic delay was not associated with current visual symptoms. Our findings highlighted the continued difficulty for clinicians to identify GCA patients at the highest risk of visual complications.