Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Evaluating an Intensive Recovery Programme for Adolescents Who Have Been Bullied: a Mixed Methods Study

Bullying is a serious problem for many adolescents, and one that can have detrimental effects on normal developmental processes, as chronic and severe bullying can obstruct the fulfilment of essential psychological needs. However, there are currently few targeted interventions available for chronic and severe bullying cases. The purpose of this study was to evaluate the effectiveness of the Red Balloon Learner Centres (RBLC) which are a full time personal and academic recovery programme for bullied adolescents. A mixed-methodology was utilised, and quantitative outcome measures included: depression, anxiety and trauma symptoms, self-esteem and academic engagement and self-concept. The study was non equivalent groups design (NEGD) and incorporated a comparison group of bullied adolescents from Hertfordshire local authority (LA). The aim was to compare the recovery process between groups over time by taking an initial baseline measure, and conducting follow-up assessments every three months. Both groups demonstrated significant improvements in outcome variables over time, but there were no significant differences between groups at six month follow-up on any outcome variable. Both groups reported similar recovery themes that related to need fulfilment in the areas of safety and security, control, belonging and self-esteem. Recovery is not just the absence of internalising symptomology, but constructive fulfilment of needs. Social needs were felt to be most affected by chronic and severe bullying and most difficult to fulfil constructively. It is recommended that interventions for chronically and severely bullied adolescents should enable constructive need fulfilment, which may involve changes to the ethos and culture of schools, collaborative therapeutic intervention and targeted skill building

Evaluating an intensive recovery programme for adolescents who have been bullied : a mixed methods study

Bullying is a serious problem for many adolescents, and one that can have detrimental effects on normal developmental processes, as chronic and severe bullying can obstruct the fulfilment of essential psychological needs. However, there are currently few targeted interventions available for chronic and severe bullying cases. The purpose of this study was to evaluate the effectiveness of the Red Balloon Learner Centres (RBLC) which are a full time personal and academic recovery programme for bullied adolescents. A mixed-methodology was utilised, and quantitative outcome measures included: depression, anxiety and trauma symptoms, self-esteem and academic engagement and self-concept. The study was non equivalent groups design (NEGD) and incorporated a comparison group of bullied adolescents from Hertfordshire local authority (LA). The aim was to compare the recovery process between groups over time by taking an initial baseline measure, and conducting follow-up assessments every three months. Both groups demonstrated significant improvements in outcome variables over time, but there were no significant differences between groups at six month follow-up on any outcome variable. Both groups reported similar recovery themes that related to need fulfilment in the areas of safety and security, control, belonging and self-esteem. Recovery is not just the absence of internalising symptomology, but constructive fulfilment of needs. Social needs were felt to be most affected by chronic and severe bullying and most difficult to fulfil constructively. It is recommended that interventions for chronically and severely bullied adolescents should enable constructive need fulfilment, which may involve changes to the ethos and culture of schools, collaborative therapeutic intervention and targeted skill building.EThOS - Electronic Theses Online ServiceGBUnited Kingdo

Scoping Review:Mobility aids for people with sight loss across the ICF domains of functions, activities and participation

Significance. There is little literature linking mobility aids for people with sight loss to the functions, activities, and participation domains of the International Classification of Functioning, Disability and Health (ICF). Future studies on this relationship should be funded and pursued to better understand ways to maximize the benefit of mobility aids. Purpose. The ICF domains of functions, activities, and participation are potentially health-supporting aspects of daily living that may be impeded for people with sight loss. While mobility aids facilitate safely navigating obstacles to optimize independence, it is not clear if they have any effect on functions, activities, or participation. This review explores the literature to establish the associations between mobility aids and ICF domains. Methods. An established scoping review methodological framework was used to systematically search, select, and synthesize the existing literature. Results. Of 116 unique retrieved articles, three observational studies were eligible for inclusion with a total of 124 participants. A small experimental study found blind adults had slower Timed Up and Go times than sighted, and better performance with a long cane than without. One observational study found physical activity was strongly related to level of visual acuity but with no independent impact of mobility aids. A single mixed methods study explored travel frequency for blind people with assistance dogs and considered constraints to participation. Conclusions. Despite the included studies involving some aspect of mobility aid use by people with sight loss, to-date no study has focused exclusively on mobility aid intervention for people with sight loss within the physical function, physical activity and participation domains of the ICF. There is no reliable evidence on the associations between mobility aids and physical function, physical activity, and participation. This is an important knowledge gap for determining the most suitable aids, and their use, to best facilitate health-supporting activities

A framework for precision “dosing” of mental healthcare services: algorithm development and clinical pilot

Abstract Background One in five adults in the US experience mental illness and over half of these adults do not receive treatment. In addition to the access gap, few innovations have been reported for ensuring the right level of mental healthcare service is available at the right time for individual patients. Methods Historical observational clinical data was leveraged from a virtual healthcare system. We conceptualize mental healthcare services themselves as therapeutic interventions and develop a prototype computational framework to estimate their potential longitudinal impacts on depressive symptom severity, which is then used to assess new treatment schedules and delivered to clinicians via a dashboard. We operationally define this process as “session dosing”: 497 patients who started treatment with severe symptoms of depression between November 2020 and October 2021 were used for modeling. Subsequently, 22 mental health providers participated in a 5-week clinical quality improvement (QI) pilot, where they utilized the prototype dashboard in treatment planning with 126 patients. Results The developed framework was able to resolve patient symptom fluctuations from their treatment schedules: 77% of the modeling dataset fit criteria for using the individual fits for subsequent clinical planning where five anecdotal profile types were identified that presented different clinical opportunities. Based on initial quality thresholds for model fits, 88% of those individuals were identified as adequate for session optimization planning using the developed dashboard, while 12% supported more thorough treatment planning (e.g. different treatment modalities). In the clinical pilot, 90% of clinicians reported using the dashboard a few times or more per member. Although most clinicians (67.5%) either rarely or never used the dashboard to change session types, numerous other discussions were enabled, and opportunities for automating session recommendations were identified. Conclusions It is possible to model and identify the extent to which mental healthcare services can resolve depressive symptom severity fluctuations. Implementation of one such prototype framework in a real-world clinic represents an advancement in mental healthcare treatment planning; however, investigations to assess which clinical endpoints are impacted by this technology, and the best way to incorporate such frameworks into clinical workflows, are needed and are actively being pursued

Linking Research and Practice: The Role of Extension on Agritourism Development in the United States

Agritourism is a critical farm diversification strategy for farmers to enhance income and profit potential with benefits related to rural community development, increased awareness of sustainability practices, and local heritage preservation. For rural community and economic development professionals, agritourism has become an important strategy to develop local tourism, grow small businesses, and enhance regional economic diversification. We propose that the agritourism ecosystem would arguably benefit from more robust Extension programming and network development. A discussion of two state case studies, Vermont and California, provides an overview of the critical elements necessary to build a statewide agritourism program. The role of Extension in rural development and tourism underscores the opportunity to utilize agritourism as a broader development strategy. Finally, we make recommendations for growing the role of Extension in agritourism. More robust training and education for Extension professionals, stronger connections to state tourism departments, and more robust advocacy with university and state-level decision makers on the value of agritourism investments are all highlighted as crucial next steps

The effectiveness of sexual assault referral centres with regard to mental health and substance use:a national mixed-methods study - the MiMoS Study

Background Sexual assault referral centres have been established to provide an integrated service that includes forensic examination, health interventions and emotional support. However, it is unclear how the mental health and substance use needs are being addressed. Aim To identify what works for whom under what circumstances for people with mental health or substance use issues who attend sexual assault referral centres. Setting and sample Staff and adult survivors in English sexual assault referral centres and partner agency staff. Design A mixed-method multistage study using realist methodology comprising five work packages. This consisted of a systematic review and realist synthesis (work package 1); a national audit of sexual assault referral centres (work package 2); a cross-sectional prevalence study of mental health and drug and alcohol needs (work package 3); case studies in six sexual assault referral centre settings (work package 4), partner agencies and survivors; and secondary data analysis of outcomes of therapy for sexual assault survivors (work package 5). Findings There is a paucity of evidence identified in the review to support specific ways of addressing mental health and substance use. There is limited mental health expertise in sexual assault referral centres and limited use of screening tools based on the audit. In the prevalence study, participants (n = 78) reported high levels of psychological distress one to six weeks after sexual assault referral centre attendance (94% of people had symptoms of post-traumatic stress disorder). From work package 4 qualitative analysis, survivors identified how trauma-informed care potentially reduced risk of re-traumatisation. Sexual assault referral centre staff found having someone with mental health expertise in the team helpful not only in helping plan onward referrals but also in supporting staff. Both sexual assault referral centre staff and survivors highlighted challenges in onward referral, particularly to NHS mental health care, including gaps in provision and long waiting times. Work package 5 analysis demonstrated that people with recorded sexual assault had higher levels of baseline psychological distress and received more therapy but their average change scores at end point were similar to those without sexual trauma. Limitations The study was adversely affected by the pandemic. The data were collected during successive lockdowns when services were not operating as usual, as well as the overlay of anxiety and isolation due to the pandemic. Conclusions People who attend sexual assault centres have significant mental health and substance use needs. However, sexual assault referral centres vary in how they address these issues. Access to follow-up support from mental health services needs to be improved (especially for those deemed to have ‘complex’ needs) and there is some indication that co-located psychological therapies provision improves the survivor experience. Routine data analysis demonstrated that those with sexual assault can benefit from therapy but require more intensity than those without sexual assault. Future work Further research is needed to evaluate the effectiveness and cost-effectiveness of providing co-located psychological therapy in the sexual assault referral centres, as well as evaluating the long-term needs and outcomes of people who attend these centres. Funding This project was funded by the National Institute for Health and Care Research (NIHR) Health and Social Care Delivery Research programme (16/117/03) and is published in full in Health and Social Care Delivery Research; Vol. 11, No. 21. Trial registration This trial is registered as PROSPERO 2018 CRD42018119706 and ISRCTN 18208347