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- Patrinos, George P., et al.
(författare)
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Human variome project country nodes: Documenting genetic information within a country
- 2012
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Ingår i: Human Mutation. - : Hindawi Limited. - 1059-7794. ; 33:11, s. 1513-1519
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Tidskriftsartikel (refereegranskat)abstract
- The Human Variome Project (http://www.humanvariomeproject.org) is an international effort aiming to systematically collect and share information on all human genetic variation. The two main pillars of this effort are gene/disease-specific databases and a network of Human Variome Project Country Nodes. The latter are nationwide efforts to document the genomic variation reported within a specific population. The development and successful operation of the Human Variome Project Country Nodes are of utmost importance to the success of Human Variome Project's aims and goals because they not only allow the genetic burden of disease to be quantified in different countries, but also provide diagnosticians and researchers access to an up-to-date resource that will assist them in their daily clinical practice and biomedical research, respectively. Here, we report the discussions and recommendations that resulted from the inaugural meeting of the International Confederation of Countries Advisory Council, held on 12th December 2011, during the 2011 Human Variome Project Beijing Meeting. We discuss the steps necessary to maximize the impact of the Country Node effort for developing regional and country-specific clinical genetics resources and summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 33:15131519, 2012. (c) 2012 Wiley Periodicals, Inc.
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| 2. |
- Rao, S S C, et al.
(författare)
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Evaluation of gastrointestinal transit in clinical practice: position paper of the American and European Neurogastroenterology and Motility Societies.
- 2011
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Ingår i: Neurogastroenterology and motility : the official journal of the European Gastrointestinal Motility Society. - : Wiley. - 1365-2982. ; 23:1, s. 8-23
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Forskningsöversikt (refereegranskat)abstract
- Background Disorders of gastrointestinal (GI) transit and motility are common, and cause either delayed or accelerated transit through the stomach, small intestine or colon, and affect one or more regions. Assessment of regional and/or whole gut transit times can provide direct measurements and diagnostic information to explain the cause of symptoms, and plan therapy. Purpose Recently, several newer diagnostic tools have become available. The American and European Neurogastroenterology and Motility Societies undertook this review to provide guidelines on the indications and optimal methods for the use of transit measurements in clinical practice. This was based on evidence of validation including performance characteristics, clinical significance, and strengths of various techniques. The tests include measurements of: gastric emptying with scintigraphy, wireless motility capsule, and (13) C breath tests; small bowel transit with breath tests, scintigraphy, and wireless motility capsule; and colonic transit with radioopaque markers, wireless motility capsule, and scintigraphy. Based on the evidence, consensus recommendations are provided for each technique and for the evaluations of regional and whole gut transit. In summary, tests of gastrointestinal transit are available and useful in the evaluation of patients with symptoms suggestive of gastrointestinal dysmotility, since they can provide objective diagnosis and a rational approach to patient management.
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| 3. |
- Wulff, Fredrik, et al.
(författare)
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Reduction of Baltic Sea Nutrient Inputs and Allocation of Abatement Costs Within the Baltic Sea Catchment
- 2014
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Ingår i: Ambio. - : Springer Science and Business Media LLC. - 0044-7447 .- 1654-7209. ; 43:1, s. 11-25
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Tidskriftsartikel (refereegranskat)abstract
- The Baltic Sea Action Plan (BSAP) requires tools to simulate effects and costs of various nutrient abatement strategies. Hierarchically connected databases and models of the entire catchment have been created to allow decision makers to view scenarios via the decision support system NEST. Increased intensity in agriculture in transient countries would result in increased nutrient loads to the Baltic Sea, particularly from Poland, the Baltic States, and Russia. Nutrient retentions are high, which means that the nutrient reduction goals of 135 000 tons N and 15 000 tons P, as formulated in the BSAP from 2007, correspond to a reduction in nutrient loadings to watersheds by 675 000 tons N and 158 000 tons P. A cost-minimization model was used to allocate nutrient reductions to measures and countries where the costs for reducing loads are low. The minimum annual cost to meet BSAP basin targets is estimated to 4.7 billion a,not sign.
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