Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes : Rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration

Background: The potential for global collaborations to better inform public health policy regarding major non-hypercholesterolaemia (FH), a common genetic disorder associated with premature cardiovascular disease, is yet to be reliably ascertained using similar approaches. The European Atherosclerosis Society FH Studies Collaboration (EAS FHSC) is a new initiative of international stakeholders which will help establish a global FH registry to generate large-scale, robust data on the burden of FH worldwide. Methods: The EAS FHSC will maximise the potential exploitation of currently available and future FH data (retrospective and prospective) by bringing together regional/national/international data sources with access to individuals with a clinical and/or genetic diagnosis of heterozygous or homozygous FH. A novel bespoke electronic platform and FH Data Warehouse will be developed to allow secure data sharing, validation, cleaning, pooling, harmonisation and analysis irrespective of the source or format. Standard statistical procedures will allow us to investigate cross-sectional associations, patterns of real-world practice, trends over time, and analyse risk and outcomes (e.g. cardiovascular outcomes, all-cause death), accounting for potential confounders and subgroup effects. Conclusions: The EAS FHSC represents an excellent opportunity to integrate individual efforts across the world to tackle the global burden of FH. The information garnered from the registry will help reduce gaps in knowledge, inform best practices, assist in clinical trials design, support clinical guidelines and policies development, and ultimately improve the care of FH patients. (C) 2016 Elsevier Ireland Ltd.Peer reviewe

Multipolar technoscience: clinical science collaborations in a changing world system

This dissertation focuses on the formation and governance of international clinical research collaborations in the field of regenerative stem cell medicine, and analyzes these processes against the background of the current transition to a multipolarizing scientific world system. The empirical point of departure of this study is an ethnographic analysis of the establishment of a trans-continental academia-centered clinical trials infrastructure, between researchers based in China, Hong Kong and the USA. Field research was carried out in mainland China and Hong Kong amongst scientists, clinical researchers, medical entrepreneurs, government regulators and patients, between April 2010 and May 2011. The dissertation contributes to debates on the processes and challenges that surround the global distribution of evidence-based medicine clinical research standards, and the study of science and globalization in the context of the emergence of new scientific, economic and geopolitical center regions in the world, with a particular focus on literature that comments on the scientific ascent of the People’s Republic of China. The dissertation reveals that the global diffusion of evidence-based clinical research standards, in regenerative stem cell medicine, is accompanied by the surfacing of vital forms of resistance and the creation of novel transnational spaces of alter-standardization, in which less rigorous, physician-based forms of experimental clinical practice are endorsed, publicized and tried to be legitimized. The dissertation uncovers, furthermore, that the creation of internationally standardized research zones, in the clinical stem cell field, is not necessarily a stable or constant process. The implementation of internationally recognized standards can be highly temporary and depends upon activation in specific situational contexts. Multiple modalities of experimental clinical practices continue to exist side by side to each other. Another line of theorization in this study focuses on the contemporary dynamics of global scientific multipolarization, and explores the empirical and theoretical implications of this trend for international clinical research collaborations. The dissertation argues that a new mode of clinical research partnerships may gradually be emerging. Processes of collective financiering and joint-innovation are giving rise to changing patterns of labour division, decision-making, benefit sharing, profit sharing and revised forms of ownership regarding inventions and research data. Based on a reflective engagement with postcolonial approaches to the study of science and technology, the dissertation concludes that new analytical perspectives are required, through which the empirical transformations and impact associated with the move toward a multipolarizing science system, can be captured in a more nuanced, and comprehensive manner

Doing Better by Doing Less: Approaches to Tackle Overuse of Services

Experts have projected that as much as a third of U.S. health care spending is unnecessary and wasteful. Of the estimated $765 billion of health care dollars wasted in 2009, a quarter --$210 billion -- was spent on the overuse of services, which includes services that are provided more frequently than necessary or services that are higher-cost, but no more beneficial than lower-cost alternatives.This paper provides a summary of the problem of overuse in the U.S. health care system. The analysis gives an overview of the provision of medically inappropriate and unnecessary services that drive up health care spending without making a positive impact on patients' health outcomes. It also describes approaches that have already been used to address overuse of health care services and outlines the broader payment reforms needed to minimize incentives to overdiagnose and overtreat.This overuse of services has implications for both health care costs and outcomes. There is substantial variation in the level of inappropriate use across different health care services. Research shows that the rates at which particular procedures, tests, and medications were performed or prescribed when clinically inappropriate ranged from a low of 1 percent to a high of 89 percent

Model consent clauses for rare disease research

Background: Rare Disease research has seen tremendous advancements over the last decades, with the development of new technologies, various global collaborative efforts and improved data sharing. To maximize the impact of and to further build on these developments, there is a need for model consent clauses for rare diseases research, in order to improve data interoperability, to meet the informational needs of participants, and to ensure proper ethical and legal use of data sources and participants' overall protection. Methods: A global Task Force was set up to develop model consent clauses specific to rare diseases research, that are comprehensive, harmonized, readily accessible, and internationally applicable, facilitating the recruitment and consent of rare disease research participants around the world. Existing consent forms and notices of consent were analyzed and classified under different consent themes, which were used as background to develop the model consent clauses. Results: The IRDiRC-GA4GH MCC Task Force met in September 2018, to discuss and design model consent clauses. Based on analyzed consent forms, they listed generic core elements and designed the following rare disease research specific core elements; Rare Disease Research Introductory Clause, Familial Participation, Audio/Visual Imaging, Collecting, storing, sharing of rare disease data, Recontact for matching, Data Linkage, Return of Results to Family Members, Incapacity/Death, and Benefits. Conclusion: The model consent clauses presented in this article have been drafted to highlight consent elements that bear in mind the trends in rare disease research, while providing a tool to help foster harmonization and collaborative efforts

A Scientific Roadmap for Antibiotic Discovery: A Sustained and Robust Pipeline of New Antibacterial Drugs and Therapies is Critical to Preserve Public Health

In recent decades, the discovery and development of new antibiotics have slowed dramatically as scientific barriers to drug discovery, regulatory challenges, and diminishing returns on investment have led major drug companies to scale back or abandon their antibiotic research. Consequently, antibiotic discovery—which peaked in the 1950s—has dropped precipitously. Of greater concern is the fact that nearly all antibiotics brought to market over the past 30 years have been variations on existing drugs. Every currently available antibiotic is a derivative of a class discovered between the early 1900s and 1984.At the same time, the emergence of antibiotic-resistant pathogens has accelerated, giving rise to life-threatening infections that will not respond to available antibiotic treatment. Inevitably, the more that antibiotics are used, the more that bacteria develop resistance—rendering the drugs less effective and leading public health authorities worldwide to flag antibiotic resistance as an urgent and growing public health threat

Disseminating Research Information through Facebook and Twitter (DRIFT): presenting an evidence based framework

Background: The social media platform Facebook boasts over 1,284 million daily active users globally. It is also known that a large proportion of adults use the internet to seek health related information.Aim: to critically analyse the use of social media to engage parents of children with ADHD with clinical research findings.Methods: Observation and qualitative content analysis combined with Facebook insights was used to evaluate the levels of engagement and interaction with different types of research information.Results: Over 1100 people from 41 nations have engaged with the group. Sharing information through a range of Facebook functions was found to successfully achieve engagement and reach nationally and internationally for this demographic.Conclusion: Lay research users are eager to engage and understand clinical research and social media is an appropriate way to disseminate this. This article has proposed some methods and explanatory reasons for this phenomena.Implications for practice: It is known that social media can be used for effective communication. This article presents a much-needed evidence based framework that may be used by nursing and health researchers to successfully achieve this

ENIGMA and global neuroscience: A decade of large-scale studies of the brain in health and disease across more than 40 countries.

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of "big data" (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA's activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive, and psychosocial factors

Data as a Service (DaaS) for sharing and processing of large data collections in the cloud

Data as a Service (DaaS) is among the latest kind of services being investigated in the Cloud computing community. The main aim of DaaS is to overcome limitations of state-of-the-art approaches in data technologies, according to which data is stored and accessed from repositories whose location is known and is relevant for sharing and processing. Besides limitations for the data sharing, current approaches also do not achieve to fully separate/decouple software services from data and thus impose limitations in inter-operability. In this paper we propose a DaaS approach for intelligent sharing and processing of large data collections with the aim of abstracting the data location (by making it relevant to the needs of sharing and accessing) and to fully decouple the data and its processing. The aim of our approach is to build a Cloud computing platform, offering DaaS to support large communities of users that need to share, access, and process the data for collectively building knowledge from data. We exemplify the approach from large data collections from health and biology domains.Peer ReviewedPostprint (author's final draft

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