| 1. |
- Abbadessa, G, et al.
(författare)
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Unsung hero Robert C. Gallo
- 2009
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 323:5911, s. 206-207
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Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)
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| 3. |
- Camuffo, I, et al.
(författare)
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State of the art and eVALUE scope
- 2008
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Rapport (övrigt vetenskapligt/konstnärligt)abstract
- eVALUE will address the real function of ICT-based safety systems and their capability to perform the function through two courses of action: defining and quantifying the function output to be achieved by the safety system and developing the testing and evaluation methods for the ICT-based safety systems. The safety systems within the eVALUE scope are classified into four clusters: longitudinal, lateral and yaw/stability. The fourth cluster remains open for upcoming systems. Based on market availability and penetration rate, the consortium decided to focus on eight preventive or mitigating safety systems: ACC, FCW and CM by braking, in the longitudinal assistance domain; BSD, LDW and LKA, in the lateral assistance domain; and finally, ABS and ESC, in the yaw/stability assistance domain. Following the description of current test and evaluation methods, sensor technologies, system function output and ECUs globally applicable to ICT based safety systems, the report covers these technologies and components for the eight selected systems in detail. As a next step to this deliverable and according to the work plan, concepts for design reviews, physical vehicle testing as well as laboratory testing will be analysed. The result will be an in-depth understanding of the possibilities to investigate and evaluate the eight active safety systems within the first phase of the project. The different concepts will then support the decision about the development of the testing and evaluation methods that are able to point out the safety benefit of those systems in the most representative way.
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| 7. |
- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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| 9. |
- Locatelli, F, et al.
(författare)
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The MPO Study: just a European HEMO Study or something very different?
- 2008
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Ingår i: Blood purification. - : S. Karger AG. - 1421-9735 .- 0253-5068. ; 26:1, s. 100-104
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Tidskriftsartikel (refereegranskat)abstract
- Although results from observational and epidemiological studies suggested a survival benefit associated with high-flux hemodialysis, conclusive evidence from prospective randomized clinical trials has been lacking. Both the HEMO Study in the USA and the Membrane Permeability Outcome Study (MPO Study) in Europe are randomized studies investigating the effect of high- and low-flux hemodialysis on patient outcomes, even though there were some significant differences in the design of the two studies. An earlier randomized clinical trial could not show differences on patient survival between patient groups being treated with membranes of different material and permeability, but this trial was not designed specifically to examine this particular endpoint. Based on these previous experiences, the MPO Study addressed a hemodialysis patient population which was considered to be more susceptible to the intervention with high-flux dialysis. To identify these patients with an elevated risk, low serum albumin levels were chosen as an indicator; low serum albumin is associated with malnutrition, inflammation, atherosclerosis, and with increased risk of morbidity and mortality. Together with low serum albumin, patients had to be new to dialysis to be selected for the MPO Study. These particular considerations on patient selection, together with additional methodological refinements in the study design allow the conclusion that the MPO Study is valid on its own rather than being a European version of the HEMO Study.
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| 10. |
- Camuffo, I, et al.
(författare)
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Concepts definition
- 2009
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Rapport (övrigt vetenskapligt/konstnärligt)
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