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- Henricson, E. K., et al.
(författare)
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The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
- 2013
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Ingår i: Muscle & Nerve. - : Wiley. - 0148-639X. ; 48:1, s. 55-67
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Glucocorticoid (GC) therapy in Duchenne muscular dystrophy (DMD) has altered disease progression, necessitating contemporary natural history studies. Methods: The Cooperative Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 DMD males, ages 2-28 years. A comprehensive battery of measures was obtained. Results: A novel composite functional milestone scale scale showed clinically meaningful mobility and upper limb abilities were significantly preserved in GC-treated adolescents/young adults. Manual muscle test (MMT)-based calculations of global strength showed that those patients <10 years of age treated with steroids declined by 0.4 +/- 0.39 MMT unit/year, compared with -0.4 +/- 0.39 MMT unit/year in historical steroid-naive subjects. Pulmonary function tests (PFTs) were relatively preserved in steroid-treated adolescents. The linearity and magnitude of decline in measures were affected by maturational changes and functional status. Conclusions: In DMD, long-term use of GCs showed reduced strength loss and preserved functional capabilities and PFTs compared with previous natural history studies performed prior to the widespread use of GC therapy.
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- Holding, J. M., et al.
(författare)
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Experimentally determined temperature thresholds for Arctic plankton community metabolism
- 2013
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Ingår i: Biogeosciences. - : Copernicus GmbH. - 1726-4189. ; 10:1, s. 357-370
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Tidskriftsartikel (refereegranskat)abstract
- Climate warming is especially severe in the Arctic, where the average temperature is increasing 0.4 degrees C per decade, two to three times higher than the global average rate. Furthermore, the Arctic has lost more than half of its summer ice extent since 1980 and predictions suggest that the Arctic will be ice free in the summer as early as 2050, which could increase the rate of warming. Predictions based on the metabolic theory of ecology assume that temperature increase will enhance metabolic rates and thus both the rate of primary production and respiration will increase. However, these predictions do not consider the specific metabolic balance of the communities. We tested, experimentally, the response of Arctic plankton communities to seawater temperature spanning from 1 degrees C to 10 degrees C. Two types of communities were tested, open-ocean Arctic communities from water collected in the Barents Sea and Atlantic influenced fjord communities from water collected in the Svalbard fjord system. Metabolic rates did indeed increase as suggested by metabolic theory, however these results suggest an experimental temperature threshold of 5 degrees C, beyond which the metabolism of plankton communities shifts from autotrophic to heterotrophic. This threshold is also validated by field measurements across a range of temperatures which suggested a temperature 5.4 degrees C beyond which Arctic plankton communities switch to heterotrophy. Barents Sea communities showed a much clearer threshold response to temperature manipulations than fjord communities.
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- Lambert, Jean-Charles, et al.
(författare)
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The CALHM1 P86L Polymorphism is a Genetic Modifier of Age at Onset in Alzheimer's Disease : a Meta-Analysis Study
- 2010
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Ingår i: Journal of Alzheimer's Disease. - 1387-2877 .- 1875-8908. ; 22:1, s. 247-255
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Tidskriftsartikel (refereegranskat)abstract
- The only established genetic determinant of non-Mendelian forms of Alzheimer's disease (AD) is the epsilon 4 allele of the apolipoprotein E gene (APOE). Recently, it has been reported that the P86L polymorphism of the calcium homeostasis modulator 1 gene (CALHM1) is associated with the risk of developing AD. In order to independently assess this association, we performed a meta-analysis of 7,873 AD cases and 13,274 controls of Caucasian origin (from a total of 24 centers in Belgium, Finland, France, Italy, Spain, Sweden, the UK, and the USA). Our results indicate that the CALHM1 P86L polymorphism is likely not a genetic determinant of AD but may modulate age of onset by interacting with the effect of the epsilon 4 allele of the APOE gene.
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