| 1. |
- Rivas, Manuel A., et al.
(författare)
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A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
- 2016
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Ingår i: Nature Communications. - London, United Kingdom : Nature Publishing Group. - 2041-1723. ; 7
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Tidskriftsartikel (refereegranskat)abstract
- Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory bowel disease exploiting knowledge of common variants associated with the same disease. Through replication genotyping and imputation we found that a predicted protein-truncating variant (rs36095412, p.R179X, genotyped in 11,148 ulcerative colitis patients and 295,446 controls, MAF=up to 0.78%) in RNF186, a single-exon ring finger E3 ligase with strong colonic expression, protects against ulcerative colitis (overall P=6.89 × 10(-7), odds ratio=0.30). We further demonstrate that the truncated protein exhibits reduced expression and altered subcellular localization, suggesting the protective mechanism may reside in the loss of an interaction or function via mislocalization and/or loss of an essential transmembrane domain.
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| 2. |
- Van Hoye, A., et al.
(författare)
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Development of the Health Promoting Sports Club - National Audit Tool
- 2022
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Ingår i: European Journal of Public Health. - : Oxford University Press. - 1101-1262 .- 1464-360X. ; 32:Suppl. 3, s. iii110-iii111
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Background: Sports clubs have requested support from national governing authorities to invest in health promotion (HP), by developing policies, guidelines and dedicated funding. This manuscript outlines the development of a national audit tool to review policies development and implementation to support HP insports clubs.Methods: A 5-step process was undertaken by an international project team: (1) a rapid literature review to identify items assessing policies in physical activity, HP and sports, (2) a thematic analysis to categorize items, (3) a Delphi method to analyze item relevance, country specificity, reformulation, validation and organization, (4) face validity through an online survey and in-depth interviews with expert representatives on physical activity and sports and (5) audit tool finalization though project team consensus.Results: Eight sources were reviewed with 269 items identified. Items were coded into 25 categories with three broad themes: policies, actors and settings-based approach. The Delphi study extracted and refined 50 items and categorized them into 10 sections. After revisions from 22 surveys and 8 interviews, consensus was reached by the international project team on 41 items categorized into 11 sections: Role of ministry or department; Policies; Communication; Implementation & Dissemination; Evaluation & Measurement methods; Sub-national level policies; Funding & Coordination; Participative approach; Actors & Stakeholders; National sporting events; Case studies and Implicated stakeholders.Conclusions: To progress HP in the sports club context it is necessary to understand existing national level policies. This national audit tool will aid in monitoring and assessing national policies for health promoting sports clubs.
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| 3. |
- Bass, Gary A, 1979-, et al.
(författare)
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The snapshot audit methodology : design, implementation and analysis of prospective observational cohort studies in surgery
- 2023
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Ingår i: European Journal of Trauma and Emergency Surgery. - : Springer. - 1863-9933 .- 1863-9941. ; 49:1, s. 5-15
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: For some surgical conditionns and scientific questions, the "real world" effectiveness of surgical patient care may be better explored using a multi-institutional time-bound observational cohort assessment approach (termed a "snapshot audit") than by retrospective review of administrative datasets or by prospective randomized control trials. We discuss when this might be the case, and present the key features of developing, deploying, and assessing snapshot audit outcomes data.Methods: A narrative review of snapshot audit methodology was generated using the Scale for the Assessment of Narrative Review Articles (SANRA) guideline. Manuscripts were selected from domains including: audit design and deployment, statistical analysis, surgical therapy and technique, surgical outcomes, diagnostic testing, critical care management, concomitant non-surgical disease, implementation science, and guideline compliance.Results: Snapshot audits all conform to a similar structure: being time-bound, non-interventional, and multi-institutional. A successful diverse steering committee will leverage expertise that includes clinical care and data science, coupled with librarian services. Pre-published protocols (with specified aims and analyses) greatly helps site recruitment. Mentored trainee involvement at collaborating sites should be encouraged through manuscript contributorship. Current funding principally flows from medical professional organizations.Conclusion: The snapshot audit approach to assessing current care provides insights into care delivery, outcomes, and guideline compliance while generating testable hypotheses.
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| 4. |
- Beger, Richard D., et al.
(författare)
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Metabolomics enables precision medicine : "A White Paper, Community Perspective"
- 2016
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Ingår i: Metabolomics. - : Springer. - 1573-3882 .- 1573-3890. ; 12:10
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Tidskriftsartikel (refereegranskat)abstract
- INTRODUCTION BACKGROUND TO METABOLOMICS: Metabolomics is the comprehensive study of the metabolome, the repertoire of biochemicals (or small molecules) present in cells, tissues, and body fluids. The study of metabolism at the global or "-omics" level is a rapidly growing field that has the potential to have a profound impact upon medical practice. At the center of metabolomics, is the concept that a person's metabolic state provides a close representation of that individual's overall health status. This metabolic state reflects what has been encoded by the genome, and modified by diet, environmental factors, and the gut microbiome. The metabolic profile provides a quantifiable readout of biochemical state from normal physiology to diverse pathophysiologies in a manner that is often not obvious from gene expression analyses. Today, clinicians capture only a very small part of the information contained in the metabolome, as they routinely measure only a narrow set of blood chemistry analytes to assess health and disease states. Examples include measuring glucose to monitor diabetes, measuring cholesterol and high density lipoprotein/low density lipoprotein ratio to assess cardiovascular health, BUN and creatinine for renal disorders, and measuring a panel of metabolites to diagnose potential inborn errors of metabolism in neonates.OBJECTIVES OF WHITE PAPER—EXPECTED TREATMENT OUTCOMES AND METABOLOMICS ENABLING TOOL FOR PRECISION MEDICINE: We anticipate that the narrow range of chemical analyses in current use by the medical community today will be replaced in the future by analyses that reveal a far more comprehensive metabolic signature. This signature is expected to describe global biochemical aberrations that reflect patterns of variance in states of wellness, more accurately describe specific diseases and their progression, and greatly aid in differential diagnosis. Such future metabolic signatures will: (1) provide predictive, prognostic, diagnostic, and surrogate markers of diverse disease states; (2) inform on underlying molecular mechanisms of diseases; (3) allow for sub-classification of diseases, and stratification of patients based on metabolic pathways impacted; (4) reveal biomarkers for drug response phenotypes, providing an effective means to predict variation in a subject's response to treatment (pharmacometabolomics); (5) define a metabotype for each specific genotype, offering a functional read-out for genetic variants: (6) provide a means to monitor response and recurrence of diseases, such as cancers: (7) describe the molecular landscape in human performance applications and extreme environments. Importantly, sophisticated metabolomic analytical platforms and informatics tools have recently been developed that make it possible to measure thousands of metabolites in blood, other body fluids, and tissues. Such tools also enable more robust analysis of response to treatment. New insights have been gained about mechanisms of diseases, including neuropsychiatric disorders, cardiovascular disease, cancers, diabetes and a range of pathologies. A series of ground breaking studies supported by National Institute of Health (NIH) through the Pharmacometabolomics Research Network and its partnership with the Pharmacogenomics Research Network illustrate how a patient's metabotype at baseline, prior to treatment, during treatment, and post-treatment, can inform about treatment outcomes and variations in responsiveness to drugs (e.g., statins, antidepressants, antihypertensives and antiplatelet therapies). These studies along with several others also exemplify how metabolomics data can complement and inform genetic data in defining ethnic, sex, and gender basis for variation in responses to treatment, which illustrates how pharmacometabolomics and pharmacogenomics are complementary and powerful tools for precision medicine.CONCLUSIONS KEY SCIENTIFIC CONCEPTS AND RECOMMENDATIONS FOR PRECISION MEDICINE: Our metabolomics community believes that inclusion of metabolomics data in precision medicine initiatives is timely and will provide an extremely valuable layer of data that compliments and informs other data obtained by these important initiatives. Our Metabolomics Society, through its "Precision Medicine and Pharmacometabolomics Task Group", with input from our metabolomics community at large, has developed this White Paper where we discuss the value and approaches for including metabolomics data in large precision medicine initiatives. This White Paper offers recommendations for the selection of state of-the-art metabolomics platforms and approaches that offer the widest biochemical coverage, considers critical sample collection and preservation, as well as standardization of measurements, among other important topics. We anticipate that our metabolomics community will have representation in large precision medicine initiatives to provide input with regard to sample acquisition/preservation, selection of optimal omics technologies, and key issues regarding data collection, interpretation, and dissemination. We strongly recommend the collection and biobanking of samples for precision medicine initiatives that will take into consideration needs for large-scale metabolic phenotyping studies.
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| 5. |
- Smith, Roger O., et al.
(författare)
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Assistive technology products : a position paper from the first global research, innovation, and education on assistive technology (GREAT) summit
- 2018
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Ingår i: Disability and Rehabilitation. - : Informa Healthcare. - 1748-3107 .- 1748-3115. ; 13:5, s. 473-485
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Tidskriftsartikel (refereegranskat)abstract
- This paper is based on work from the Global Research, Innovation, and Education on Assistive Technology (GREAT) Summit that was coordinated by WHO's Global Cooperation on Assistive Technology (GATE). The purpose of this paper is to describe the needs and opportunities embedded in the assistive product lifecycle as well as issues relating to the various stages of assistive product mobilization worldwide. The paper discusses assistive technology product terminology and the dangers of focusing on products outside the context and rolling out products without a plan. Additionally, the paper reviews concepts and issues around technology transfer, particularly in relation to meeting global needs and among countries with limited resources. Several opportunities are highlighted including technology advancement and the world nearing a state of readiness through a developing capacity of nations across the world to successfully adopt and support the assistive technology products and applications. The paper is optimistic about the future of assistive technology products reaching the people that can use it the most and the excitement across large and small nations in increasing their own capacities for implementing assistive technology. This is expressed as hope in future students as they innovate and in modern engineering that will enable assistive technology to pervade all corners of current and potential marketplaces. Importantly, the paper poses numerous topics where discussions are just superficially opened. The hope is that a set of sequels will follow to continue this critical dialog.Implications for RehabilitationSuccessful assistive technology product interventions are complex and include much more than the simple selection of the right product.Assistive technology product use is highly context sensitive in terms of an individual user's environment.The development of assistive technology products is tricky as it must be contextually sensitive to the development environment and market as well.As a field we have much to study and develop around assistive technology product interventions from a global perspective.
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