| 1. |
- Zhou, XP, et al.
(författare)
-
Non-coding variability at the APOE locus contributes to the Alzheimer's risk
- 2019
-
Ingår i: Nature communications. - : Springer Science and Business Media LLC. - 2041-1723. ; 10:1, s. 3310-
-
Tidskriftsartikel (refereegranskat)abstract
- Alzheimer’s disease (AD) is a leading cause of mortality in the elderly. While the coding change of APOE-ε4 is a key risk factor for late-onset AD and has been believed to be the only risk factor in the APOE locus, it does not fully explain the risk effect conferred by the locus. Here, we report the identification of AD causal variants in PVRL2 and APOC1 regions in proximity to APOE and define common risk haplotypes independent of APOE-ε4 coding change. These risk haplotypes are associated with changes of AD-related endophenotypes including cognitive performance, and altered expression of APOE and its nearby genes in the human brain and blood. High-throughput genome-wide chromosome conformation capture analysis further supports the roles of these risk haplotypes in modulating chromatin states and gene expression in the brain. Our findings provide compelling evidence for additional risk factors in the APOE locus that contribute to AD pathogenesis.
|
|
| 2. |
|
|
| 3. |
|
|
| 4. |
|
|
| 5. |
|
|
| 6. |
- Nawka, T, et al.
(författare)
-
Item reduction of the voice handicap index based on the original version and on European translations
- 2009
-
Ingår i: Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP). - : S. Karger AG. - 1421-9972. ; 61:1, s. 37-48
-
Tidskriftsartikel (refereegranskat)abstract
- <i>Objective:</i> Constructing an internationally applicable short-scale of the Voice Handicap Index (VHI). <i>Methods:</i> Subjects were 1,052 patients with 5 different types of voice disorder groups from Belgium, France, Sweden, Germany, Italy, The Netherlands, Portugal, and the USA. Different 9- and 12-item subsets were selected from the 30 VHI items using (1) the first factor of an unrotated factor analysis (narrow range subsets) and (2) the first three factors after promax rotation (broad range subsets). Country-specific subsets were selected to test deviations from the international subsets. For all subsets, reliability was investigated using Cronbach’s alphas and correlations with the total VHI. Validity was investigated using regression on voice disorder groups. All analyses were performed for the total and for all country-specific subject samples. <i>Results:</i> Reliability was high for all item subsets. It was lower for the international compared to the country-specific subsets and for the broad range compared to the narrow range subsets. Validity was best for the broad range subsets. Validity was better for the international than for the country-specific subsets. For all statistics the 12-item subsets were not essentially better than the 9-item subsets. <i>Conclusion:</i> The international broad range 9-item subset forms a scale which approximates well the total VHI.
|
|
| 7. |
- Prusti, T., et al.
(författare)
-
The Gaia mission
- 2016
-
Ingår i: Astronomy and Astrophysics. - : EDP Sciences. - 0004-6361 .- 1432-0746. ; 595
-
Tidskriftsartikel (refereegranskat)abstract
- Gaia is a cornerstone mission in the science programme of the European Space Agency (ESA). The spacecraft construction was approved in 2006, following a study in which the original interferometric concept was changed to a direct-imaging approach. Both the spacecraft and the payload were built by European industry. The involvement of the scientific community focusses on data processing for which the international Gaia Data Processing and Analysis Consortium (DPAC) was selected in 2007. Gaia was launched on 19 December 2013 and arrived at its operating point, the second Lagrange point of the Sun-Earth-Moon system, a few weeks later. The commissioning of the spacecraft and payload was completed on 19 July 2014. The nominal five-year mission started with four weeks of special, ecliptic-pole scanning and subsequently transferred into full-sky scanning mode. We recall the scientific goals of Gaia and give a description of the as-built spacecraft that is currently (mid-2016) being operated to achieve these goals. We pay special attention to the payload module, the performance of which is closely related to the scientific performance of the mission. We provide a summary of the commissioning activities and findings, followed by a description of the routine operational mode. We summarise scientific performance estimates on the basis of in-orbit operations. Several intermediate Gaia data releases are planned and the data can be retrieved from the Gaia Archive, which is available through the Gaia home page.
|
|
| 8. |
|
|
| 9. |
|
|
| 10. |
- Verdonck-de Leeuw, IM, et al.
(författare)
-
Validation of the voice handicap index by assessing equivalence of European translations
- 2008
-
Ingår i: Folia phoniatrica et logopaedica : official organ of the International Association of Logopedics and Phoniatrics (IALP). - : S. Karger AG. - 1421-9972. ; 60:4, s. 173-178
-
Tidskriftsartikel (refereegranskat)abstract
- <i>Objective:</i> We aimed to assess the equivalence of translations of the Voice Handicap Index (VHI). <i>Patients and Methods:</i> Confirmatory factor analysis was used to assess equivalence of the US version and several translations including (1) Dutch, (2) Flemish Dutch (Belgium), (3) UK English, (4) French, (5) German, (6) Italian, (7) Portuguese and (8) Swedish. VHI questionnaires were gathered from 1,281 subjects. Patients were classified into 11 voice lesion categories. Patients with incomplete response (4%) and patients within voice lesion categories with small numbers were excluded from further analyses, leaving a cohort of 1,052 patients from 8 countries. <i>Results:</i> The internal consistency of the VHI proved to be good. Confirmatory factor analysis across countries revealed that a 3-factor fixed measurement model best fitted the data; the 3 subscales appeared to highly intercorrelated, especially in the US data. The underlying structure of the VHI was also equivalent regarding various voice lesions, but distinct groups were recognized with respect to the height of the VHI scores, indicating that various voice lesions lead to a diversity of voice problems in daily life. <i>Conclusion:</i> The US VHI and the translations appeared to be equivalent, which means that the results from studies from the various included countries can be compared.
|
|
