| 1. |
- Beecham, Ashley H, et al.
(författare)
-
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
- 2013
-
Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:11, s. 1353-60
-
Tidskriftsartikel (refereegranskat)abstract
- Using the ImmunoChip custom genotyping array, we analyzed 14,498 subjects with multiple sclerosis and 24,091 healthy controls for 161,311 autosomal variants and identified 135 potentially associated regions (P < 1.0 × 10(-4)). In a replication phase, we combined these data with previous genome-wide association study (GWAS) data from an independent 14,802 subjects with multiple sclerosis and 26,703 healthy controls. In these 80,094 individuals of European ancestry, we identified 48 new susceptibility variants (P < 5.0 × 10(-8)), 3 of which we found after conditioning on previously identified variants. Thus, there are now 110 established multiple sclerosis risk variants at 103 discrete loci outside of the major histocompatibility complex. With high-resolution Bayesian fine mapping, we identified five regions where one variant accounted for more than 50% of the posterior probability of association. This study enhances the catalog of multiple sclerosis risk variants and illustrates the value of fine mapping in the resolution of GWAS signals.
|
|
| 2. |
- Engert, Andreas, et al.
(författare)
-
The European Hematology Association Roadmap for European Hematology Research : a consensus document
- 2016
-
Ingår i: Haematologica. - Pavia, Italy : Ferrata Storti Foundation (Haematologica). - 0390-6078 .- 1592-8721. ; 101:2, s. 115-208
-
Tidskriftsartikel (refereegranskat)abstract
- The European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at (sic)23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.
|
|
| 3. |
- Hill, Loreena, et al.
(författare)
-
Patient and Professional Factors That Impact the Perceived Likelihood and Confidence of Healthcare Professionals to Discuss Implantable Cardioverter Defibrillator Deactivation in Advanced Heart Failure Results From an International Factorial Survey
- 2018
-
Ingår i: Journal of Cardiovascular Nursing. - : LIPPINCOTT WILLIAMS & WILKINS. - 0889-4655 .- 1550-5049. ; 33:6, s. 527-535
-
Tidskriftsartikel (refereegranskat)abstract
- Background: Rate of implantable cardioverter defibrillator (ICD) implantations is increasing in patients with advanced heart failure. Despite clear guideline recommendations, discussions addressing deactivation occur infrequently. Aim: The aim of this article is to explore patient and professional factors that impact perceived likelihood and confidence of healthcare professionals to discuss ICD deactivation. Methods and Results: Between 2015 and 2016, an international sample of 262 healthcare professionals (65% nursing, 24% medical) completed an online factorial survey, encompassing a demographic questionnaire and clinical vignettes. Each vignette had 9 randomly manipulated and embedded patient-related factors, considered as independent variables, providing 1572 unique vignettes for analysis. These factors were determined through synthesis of a systematic literature review, a retrospective case note review, and a qualitative exploratory study. Results showed that most healthcare professionals agreed that deactivation discussions should be initiated by a cardiologist (95%, n = 255) or a specialist nurse (81%, n = 215). In terms of experience, 84% of cardiologists (n = 53) but only 30% of nurses (n = 50) had previously been involved in a deactivation decision. Healthcare professionals valued patient involvement in deactivation decisions; however, only 50% (n = 130) actively involved family members. Five of 9 clinical factors were associated with an increased likelihood to discuss deactivation including advanced age, severe heart failure, presence of malignancy, receipt of multiple ICD shocks, and more than 3 hospital admissions during the previous year. Furthermore, nationality and discipline significantly influenced likelihood and confidence in decision making. Conclusions: Guidelines recommend that healthcare professionals discuss ICD deactivation; however, practice is suboptimal with multifactorial factors impacting on decision making. The role and responsibility of nurses in discussing deactivation require clarity and improvement.
|
|
| 4. |
- MacLachlan, Malcolm, et al.
(författare)
-
Assistive technology policy: a position paper from the first global research, innovation, and education on assistive technology (GREAT) summit
- 2018
-
Ingår i: Disability and rehabilitation. Assistive technology. - : Informa UK Limited. - 1748-3115 .- 1748-3107. ; 13:5, s. 454-466
-
Tidskriftsartikel (refereegranskat)abstract
- Increased awareness, interest and use of assistive technology (AT) presents substantial opportunities for many citizens to become, or continue being, meaningful participants in society. However, there is a significant shortfall between the need for and provision of AT, and this is patterned by a range of social, demographic and structural factors. To seize the opportunity that assistive technology offers, regional, national and sub-national assistive technology policies are urgently required. This paper was developed for and through discussion at the Global Research, Innovation and Education on Assistive Technology (GREAT) Summit; organized under the auspices of the World Health Organization’s Global Collaboration on Assistive Technology (GATE) program. It outlines some of the key principles that AT polices should address and recognizes that AT policy should be tailored to the realities of the contexts and resources available. AT policy should be developed as a part of the evolution of related policy across a number of different sectors and should have clear and direct links to AT as mediators and moderators for achieving the Sustainable Development Goals. The consultation process, development and implementation of policy should be fully inclusive of AT users, and their representative organizations, be across the lifespan, and imbued with a strong systems-thinking ethos. Six barriers are identified which funnel and diminish access to AT and are addressed systematically within this paper. We illustrate an example of good practice through a case study of AT services in Norway, and we note the challenges experienced in less well-resourced settings. A number of economic factors relating to AT and economic arguments for promoting AT use are also discussed. To address policy-development the importance of active citizenship and advocacy, the need to find mechanisms to scale up good community practices to a higher level, and the importance of political engagement for the policy process, are highlighted. Policy should be evidence-informed and allowed for evidence-making; however, it is important to account for other factors within the given context in order for policy to be practical, authentic and actionable.Implications for Rehabilitation The development of policy in the area of asssitive technology is important to provide an overarching vision and outline resourcing priorities. This paper identifies some of the key themes that should be addressed when developing or revising assistive technology policy. Each country should establish a National Assistive Technology policy and develop a theory of change for its implementation.
|
|
| 5. |
- Meier, Markus, et al.
(författare)
-
Comparing reconstructed past variations and future projections of the Baltic sea ecosystem first results from multi model ensemble simulations
- 2012
-
Ingår i: Environmental Research Letters. - : IOP Publishing. - 1748-9326. ; 7:3, s. 034005-
-
Tidskriftsartikel (refereegranskat)abstract
- Multi-model ensemble simulations for the marine biogeochemistry and food web of the Baltic Sea were performed for the period 1850-2098, and projected changes in the future climate were compared with the past climate environment. For the past period 1850-2006, atmospheric, hydrological and nutrient forcings were reconstructed, based on historical measurements. For the future period 1961-2098, scenario simulations were driven by regionalized global general circulation model (GCM) data and forced by various future greenhouse gas emission and air-and riverborne nutrient load scenarios (ranging from a pessimistic 'business-as-usual' to the most optimistic case). To estimate uncertainties, different models for the various parts of the Earth system were applied. Assuming the IPCC greenhouse gas emission scenarios A1B or A2, we found that water temperatures at the end of this century may be higher and salinities and oxygen concentrations may be lower than ever measured since 1850. There is also a tendency of increased eutrophication in the future, depending on the nutrient load scenario. Although cod biomass is mainly controlled by fishing mortality, climate change together with eutrophication may result in a biomass decline during the latter part of this century, even when combined with lower fishing pressure. Despite considerable shortcomings of state-of-the-art models, this study suggests that the future Baltic Sea ecosystem may unprecedentedly change compared to the past 150 yr. As stakeholders today pay only little attention to adaptation and mitigation strategies, more information is needed to raise public awareness of the possible impacts of climate change on marine ecosystems.
|
|
| 6. |
- Smith, Emma M., et al.
(författare)
-
Enabling appropriate personnel skill-mix for progressive realization of equitable access to assistive technology
- 2018
-
Ingår i: Disability and rehabilitation. Assistive technology. - : Informa UK Limited. - 1748-3115 .- 1748-3107. ; 13:5, s. 445-453
-
Tidskriftsartikel (refereegranskat)abstract
- Background and Methods: This paper reviews the current capacity of personnel in enabling access to assistive technology (AT) as well as the systems and processes within which they work, and was reviewed, discussed, and refined during and following the Global Research, Innovation, and Education in Assistive Technology (GREAT) Summit. Findings: Key concepts addressed include a person-centred team approach; sustainability indicators to monitor, measure, and respond to needs for service design and delivery; education, research, and training for competent practice, using the six rehab-workforce challenges framework; and credentialing frameworks. We propose development of a competence framework and associated education and training programs, and development and implementation of a certification framework for AT personnel. Conclusions: There is a resolve to address the challenges faced by People globally to access assistive technology. Context specific needs assessment is required to understand the AT Personnel landscape, to shape and strengthen credentialing frameworks through competencies and certification, acknowledging both general and specific skill mix requirements.Implications for Rehabilitation Personnel in assistive technology (AT) provision should be trained using a person-centred team approach, which emphasizes appropriate skill-mix to address multiple needs within the community. Sustainability indicators should be used which allow personnel to monitor, measure and respond to needs for service design and delivery. A competence framework with associated education and training program, coupled with the development and implementation of a certification framework for AT personnel needs, will promote quality in AT personnel training globally.
|
|
| 7. |
|
|
| 8. |
- Su, Zhan, et al.
(författare)
-
Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus.
- 2012
-
Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
-
Tidskriftsartikel (refereegranskat)abstract
- Barrett's esophagus is an increasingly common disease that is strongly associated with reflux of stomach acid and usually a hiatus hernia, and it strongly predisposes to esophageal adenocarcinoma (EAC), a tumor with a very poor prognosis. We report the first genome-wide association study on Barrett's esophagus, comprising 1,852 UK cases and 5,172 UK controls in the discovery stage and 5,986 cases and 12,825 controls in the replication stage. Variants at two loci were associated with disease risk: chromosome 6p21, rs9257809 (Pcombined=4.09×10(-9); odds ratio (OR)=1.21, 95% confidence interval (CI)=1.13-1.28), within the major histocompatibility complex locus, and chromosome 16q24, rs9936833 (Pcombined=2.74×10(-10); OR=1.14, 95% CI=1.10-1.19), for which the closest protein-coding gene is FOXF1, which is implicated in esophageal development and structure. We found evidence that many common variants of small effect contribute to genetic susceptibility to Barrett's esophagus and that SNP alleles predisposing to obesity also increase risk for Barrett's esophagus.
|
|
