| 1. |
- Ballesteros, S., et al.
(författare)
-
The Role of a New ICT Home Environment in Healthy Ageing
- 2012
-
Konferensbidrag (refereegranskat)abstract
- The goal of this longitudinal study was to prevent and/or delay cognitive decline, and help maintain the independence and wellbeing of elders by using a web-based social network platform, enhanced with devices to detect users´ states and collect activity data. The idea is that an active lifestyle rich in social interactions, active engagement and mental training with videogames may mitigate age-related decline and reduce healthcare costs. The innovative applications and the videogame training approach developed in the study could have wide application for a large number of European older adults living alone. The effectiveness of the ICT solution is being assessed throughout the project with user and control groups in Spain, Sweden and Greece. User interviews, extensive psychological testing and on-going cognitive and fMRI experiments are being conducted.. The results have shown so far that the users improved in cognitive performance compared to controls on the MMSE. Well-being assessed with the SPF-IL Scale also showed an improvement in the Status dimension of the users. This dimension assesses the feeling of being independent, self-realization and achievement. Exploring new ways to maintain the cognitive and functional state of older users is today a critical issue, for individuals, for families, and for whole societies. The study has shown the positive potential of new interactive technologies to maintain mental health and independent living in the elderly. Computer technology and cognitive training can increase social integration and provide mental stimulation for older adults living alone.
|
|
| 2. |
- Rendtorff, Nanna D., et al.
(författare)
-
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment
- 2011
-
Ingår i: American Journal of Medical Genetics. Part A. - : Wiley-Blackwell. - 1552-4825 .- 1552-4833. ; 155A:6, s. 1298-1313
-
Tidskriftsartikel (refereegranskat)abstract
- Optic atrophy (OA) and sensorineural hearing loss (SNHL) are key abnormalities in several syndromes, including the recessively inherited Wolfram syndrome, caused by mutations in WFS1. In contrast, the association of autosomal dominant OA and SNHL without other phenotypic abnormalities is rare, and almost exclusively attributed to mutations in the Optic Atrophy-1 gene (OPA1), most commonly the p.R445H mutation. We present eight probands and their families from the US, Sweden, and UK with OA and SNHL, whom we analyzed for mutations in OPA1 and WFS1. Among these families, we found three heterozygous missense mutations in WFS1 segregating with OA and SNHL: p.A684V (six families), and two novel mutations, p.G780S and p.D797Y, all involving evolutionarily conserved amino acids and absent from 298 control chromosomes. Importantly, none of these families harbored the OPA1 p.R445H mutation. No mitochondrial DNA deletions were detected in muscle from one p.A684V patient analyzed. Finally, wolframin p.A684V mutant ectopically expressed in HEK cells showed reduced protein levels compared to wild-type wolframin, strongly indicating that the mutation is disease-causing. Our data support OA and SNHL as a phenotype caused by dominant mutations in WFS1 in these additional eight families. Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V, may be a common cause of ADOA and SNHL, similar to the role played by the p.R445H mutation in OPA1. Our findings suggest that patients who are heterozygous for WFS1 missense mutations should be carefully clinically examined for OA and other manifestations of Wolfram syndrome.
|
|
