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- Escott-Price, Valentina, et al.
(författare)
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Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease
- 2014
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 9:6, s. e94661-
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Tidskriftsartikel (refereegranskat)abstract
- Background: Alzheimer's disease is a common debilitating dementia with known heritability, for which 20 late onset susceptibility loci have been identified, but more remain to be discovered. This study sought to identify new susceptibility genes, using an alternative gene-wide analytical approach which tests for patterns of association within genes, in the powerful genome-wide association dataset of the International Genomics of Alzheimer's Project Consortium, comprising over 7 m genotypes from 25,580 Alzheimer's cases and 48,466 controls. Principal Findings: In addition to earlier reported genes, we detected genome-wide significant loci on chromosomes 8 (TP53INP1, p = 1.4x10(-6)) and 14 (IGHV1-67 p = 7.9x10(-8)) which indexed novel susceptibility loci. Significance: The additional genes identified in this study, have an array of functions previously implicated in Alzheimer's disease, including aspects of energy metabolism, protein degradation and the immune system and add further weight to these pathways as potential therapeutic targets in Alzheimer's disease.
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- Sundstrom, M., et al.
(författare)
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Utility of urinary ethyl glucuronide analysis in post-mortem toxicology when investigating alcohol-related deaths
- 2014
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Ingår i: Forensic Science International. - : Elsevier. - 0379-0738 .- 1872-6283. ; 241, s. 178-182
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Tidskriftsartikel (refereegranskat)abstract
- Use and abuse of alcohol are common findings when unnatural deaths are investigated as evidenced by high blood-and urine-alcohol concentrations (BAC and UAC) at autopsy. Because ethanol is metabolized in the liver until the time of death, the autopsy BAC or UAC might be negative even though the deceased had consumed alcohol in the immediate ante-mortem period. Analysis of the non-oxidative metabolite of ethanol [ethyl glucuronide (EtG)] offers a more sensitive test of recent drinking. In this paper, we determined the concentrations of ethanol and EtG in urine samples from 972 consecutive forensic autopsies. In 425 cases (44%) both EtG and ethanol were positive, which supports ante-mortem drinking. In 342 cases (35%), both EtG and ethanol was negative, which speaks against any consumption of alcohol just before death. In 181cases, ethanol was negative in urine (less than0.2 g/kg), whereas EtG was positive (greater than0.5 mg/L), which points towards ingestion of alcohol some time before death. In these cases, mean and median concentrations of EtG were 53.2 mg/L and 23.7 mg/L, respectively, although there was no mention of alcohol on 131 of the death certificates. Alcohol was mentioned on death certificates as an underlying or immediate cause of death or a contributing factor in 435 (45%) cases, which rose to 566 (58%) cases when positive EtG results were included. This article demonstrates the usefulness of EtG analysis in routine post-mortem toxicology when ante-mortem drinking and alcohol-related deaths are investigated.
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- Hammond, J., et al.
(författare)
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An investigation of the impact of regular use of the Wii Fit to improve motor and psychosocial outcomes in children with movement difficulties : A pilot study
- 2014
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Ingår i: Child Care Health and Development. - : John Wiley & Sons. - 0305-1862 .- 1365-2214. ; 40:2, s. 165-175
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Tidskriftsartikel (refereegranskat)abstract
- Background:Children with Developmental Co-ordination Disorder (DCD) experience poor motor and psychosocial outcomes. Interventions are often limited within the healthcare system, and little is known about how technology might be used within schools or homes to promote the motor skills and/or psychosocial development of these children. This study aimed to evaluate whether short, regular school-based sessions of movement experience using a commercially available home video game console (Nintendo's Wii Fit) would lead to benefits in both motor and psychosocial domains in children with DCD.Methods:A randomized crossover controlled trial of children with movement difficulties/DCD was conducted. Children were randomly assigned to an intervention (n = 10) or comparison (n = 8) group. The intervention group spent 10min thrice weekly for 1 month using Wii Fit during the lunch break, while the comparison group took part in their regular Jump Ahead programme. Pre- and post-intervention assessments considered motor proficiency, self-perceived ability and satisfaction and parental assessment of emotional and behavioural problems.Results:Significant gains were seen in motor proficiency, the child's perception of his/her motor ability and reported emotional well-being for many, but not all children.Conclusions:This study provides preliminary evidence to support the use of the Wii Fit within therapeutic programmes for children with movement difficulties. This simple, popular intervention represents a plausible method to support children's motor and psychosocial development. It is not possible from our data to say which children are most likely to benefit from such a programme and particularly what the dose and duration should be. Further research is required to inform across these and other questions regarding the implementation of virtual reality technologies in therapeutic services for children with movement difficulties.
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