A variable neurodegenerative phenotype with polymerase gamma mutation

mtDNA replication and repair, causes mitochondrial diseases including autosomal dominant progressive external ophthalmoplegia (PEO),1 childhood hepato-encephalopathy (Alpers– Huttenlocher syndrome), adult-onset spinocerebellar ataxia, and sensory nerve degeneration with dysarthria and ophthalmoparesis (SANDO)

Regenmeting met commerciële mobiele telefonienetwerken

Het is mogelijk om regen te meten met de bestaande infrastructuur die wordt gebruikt voor de communicatie tussen mobiele telefoons. De microgolfstraalverbindingen waaruit deze netwerken bestaan, zijn namelijk gevoelig voor regen. Zij kunnen als bron van neerslagmetingen daarom een zeer waardevolle aanvulling zijn op de operationele weerradar en regenmeternetwerken voor toepassingen in het waterbeheer. Deze toegevoegde waarde ligt in het feit dat regenintensiteiten geschat uit microgolfstraalverbindingen over het algemeen nauwkeuriger zijn dan schattingen naar aanleiding van radarbeelden en de dichtheid van het netwerk vele malen hoger ligt dan de dichtheid van regenmeternetwerke

Beta(2)-adrenergic receptor (ADRB2) gene polymorphisms and risk of COPD exacerbations : the Rotterdam study

The role of the beta(2)-adrenergic receptor (ADRB2) gene in patients with chronic obstructive pulmonary disease (COPD) is unclear. We investigated the association between ADRB2 variants and the risk of exacerbations in COPD patients treated with inhaled beta(2)-agonists. Within the Rotterdam Study, a population-based cohort study, we followed 1053 COPD patients until the first COPD exacerbation or end of follow-up and extracted rs1042713 (16Arg > Gly) and rs1042714 (27Gln > Glu) in ADRB2. Exposure to inhaled beta(2)-agonists was categorized into current, past, or non-use on the index date (date of COPD exacerbation for cases and on the same day of follow-up for controls). COPD exacerbations were defined as acute episodes of worsening symptoms requiring systemic corticosteroids and/or antibiotics (moderate exacerbations), or hospitalization (severe exacerbations). The associations between ADRB2 variants and COPD exacerbations were assessed using Cox proportional hazards models, adjusting for age, sex, use of inhaled corticosteroids, daily dose of beta(2)-agonists, and smoking. In current users of beta(2)-agonists, the risk of COPD exacerbation decreased by 30% (hazard ratio (HR); 0.70, 95% CI: 0.59-0.84) for each copy of the Arg allele of rs1042713 and by 20% (HR; 0.80, 95% CI: 0.69-0.94) for each copy of the Gln allele of rs1042714. Furthermore, current users carrying the Arg16/Gln27 haplotype had a significantly lower risk (HR; 0.70, 95% CI: 0.59-0.85) of COPD exacerbation compared to the Gly16/Glu27 haplotype. In conclusion, we observed that the Arg16/Gln27 haplotype in ADRB2 was associated with a reduced risk of COPD exacerbation in current users of inhaled beta(2)-agonists

Estimation of genomic breeding values for traits with high and low heritability in Brown Swiss bulls

This paper was written in the framework of the LowInputBreeds project: “Development of integrated livestock breeding and management strategies to improve animal health, product quality and performance in European organic and ‘low input’ milk, meat and egg production”. The LowInputBreeds project unites 21 partners from Europe and further afield and will develop integrated breeding and management strategies to tackle the issue of improved animal health and food quality. It will run until 2014 and is co-funded by the European Union’s Seventh Framework Programme for Research and Technological Development

Epidemiology and impact of chronic bronchitis in chronic obstructive pulmonary disease

Research on the association between chronic bronchitis and chronic obstructive pulmonary disease (COPD) exacerbations has led to discordant results. Furthermore, the impact of chronic bronchitis on mortality in COPD subjects is unclear. Within the Rotterdam Study, a population-based cohort study of subjects aged >= 45 years, chronic bronchitis was defined as having a productive cough for >= 3 months per year for two consecutive years. Linear, logistic regression and Cox proportional hazard models were adjusted for age, sex and pack-years. Out of 972 included COPD subjects, 752 had no chronic phlegm production (CB-) and 220 had chronic phlegm production, of whom 172 met the definition of chronic bronchitis (CB+). CB+ subjects were older, more frequently current smokers and had more pack-years than CB-subjects. During a median 6.5 years of follow-up, CB+ subjects had greater decline in lung function (-38 mL.year(-1), 95% CI -61.7--14.6; p=0.024). CB+ subjects had an increased risk of frequent exacerbations (OR 4.0, 95% CI 2.7-5.9; p<0.001). In females, survival was significantly worse in CB+ subjects compared to CB-subjects. Regarding cause-specific mortality, CB+ subjects had an increased risk of respiratory mortality (hazard ratio 2.16, 95% CI 1.12-4.17; p=0.002). COPD subjects with chronic bronchitis have an increased risk of exacerbations and respiratory mortality compared to COPD subjects without chronic phlegm production

A statistical method for revealing form-function relations in biological networks

Over the past decade, a number of researchers in systems biology have sought to relate the function of biological systems to their network-level descriptions -- lists of the most important players and the pairwise interactions between them. Both for large networks (in which statistical analysis is often framed in terms of the abundance of repeated small subgraphs) and for small networks which can be analyzed in greater detail (or even synthesized in vivo and subjected to experiment), revealing the relationship between the topology of small subgraphs and their biological function has been a central goal. We here seek to pose this revelation as a statistical task, illustrated using a particular setup which has been constructed experimentally and for which parameterized models of transcriptional regulation have been studied extensively. The question "how does function follow form" is here mathematized by identifying which topological attributes correlate with the diverse possible information-processing tasks which a transcriptional regulatory network can realize. The resulting method reveals one form-function relationship which had earlier been predicted based on analytic results, and reveals a second for which we can provide an analytic interpretation. Resulting source code is distributed via http://formfunction.sourceforge.net.Comment: To appear in Proc. Natl. Acad. Sci. USA. 17 pages, 9 figures, 2 table