Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.

Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing neurodevelopmental disorders. The 16p11.2 distal CNV predisposes carriers to e.g., autism spectrum disorder and schizophrenia. We compared subcortical brain volumes of 12 16p11.2 distal deletion and 12 duplication carriers to 6882 non-carriers from the large-scale brain Magnetic Resonance Imaging collaboration, ENIGMA-CNV. After stringent CNV calling procedures, and standardized FreeSurfer image analysis, we found negative dose-response associations with copy number on intracranial volume and on regional caudate, pallidum and putamen volumes (β = -0.71 to -1.37; P < 0.0005). In an independent sample, consistent results were obtained, with significant effects in the pallidum (β = -0.95, P = 0.0042). The two data sets combined showed significant negative dose-response for the accumbens, caudate, pallidum, putamen and ICV (P = 0.0032, 8.9 × 10-6, 1.7 × 10-9, 3.5 × 10-12 and 1.0 × 10-4, respectively). Full scale IQ was lower in both deletion and duplication carriers compared to non-carriers. This is the first brain MRI study of the impact of the 16p11.2 distal CNV, and we demonstrate a specific effect on subcortical brain structures, suggesting a neuropathological pattern underlying the neurodevelopmental syndromes

The influence of balanced and imbalanced resource supply on biodiversity – functioning relationship across ecosystems

Numerous studies show that increasing species richness leads to higher ecosystem productivity. This effect is often attributed to more efficient portioning of multiple resources in communities with higher numbers of competing species, indicating the role of resource supply and stoichiometry for biodiversity-ecosystem functioning relationships. Here, we merged theory on ecological stoichiometry with a framework of biodiversity-ecosystem functioning to understand how resource use transfers into primary production. We applied a structural equation model to define patterns of diversity-productivity relationships with respect to available resources. Meta-analysis was used to summarize the findings across ecosystem types ranging from aquatic ecosystems to grasslands and forests. As hypothesized, resource supply increased realized productivity and richness, but we found significant differences between ecosystems and study types. Increased richness was associated with increased productivity, although this effect was not seen in experiments. More even communities had lower productivity, indicating that biomass production is often maintained by a few dominant species, and reduced dominance generally reduced ecosystem productivity. This synthesis, which integrates observational and experimental studies in a variety of ecosystems and geographical regions, exposes common patterns and differences in biodiversity-functioning relationships, and increases the mechanistic understanding of changes in ecosystems productivity

Most bowel cancer symptoms do not indicate colorectal cancer and polyps: a systematic review

<p>Abstract</p> <p>Background</p> <p>Bowel symptoms are often considered an indication to perform colonoscopy to identify or rule out colorectal cancer or precancerous polyps. Investigation of bowel symptoms for this purpose is recommended by numerous clinical guidelines. However, the evidence for this practice is unclear. The objective of this study is to systematically review the evidence about the association between bowel symptoms and colorectal cancer or polyps.</p> <p>Methods</p> <p>We searched the literature extensively up to December 2008, using MEDLINE and EMBASE and following references. For inclusion in the review, papers from cross sectional, case control and cohort studies had to provide a 2×2 table of symptoms by diagnosis (colorectal cancer or polyps) or sufficient data from which that table could be constructed. The search procedure, quality appraisal, and data extraction was done twice, with disagreements resolved with another reviewer. Summary ROC analysis was used to assess the diagnostic performance of symptoms to detect colorectal cancer and polyps.</p> <p>Results</p> <p>Colorectal cancer was associated with rectal bleeding (AUC 0.66; LR+ 1.9; LR- 0.7) and weight loss (AUC 0.67, LR+ 2.5, LR- 0.9). Neither of these symptoms was associated with the presence of polyps. There was no significant association of colorectal cancer or polyps with change in bowel habit, constipation, diarrhoea or abdominal pain. Neither the clinical setting (primary or specialist care) nor study type was associated with accuracy.</p> <p>Most studies had methodological flaws. There was no consistency in the way symptoms were elicited or interpreted in the studies.</p> <p>Conclusions</p> <p>Current evidence suggests that the common practice of performing colonoscopies to identify cancers in people with bowel symptoms is warranted only for rectal bleeding and the general symptom of weight loss. Bodies preparing guidelines for clinicians and consumers to improve early detection of colorectal cancer need to take into account the limited value of symptoms.</p

When experts disagree: the need to rethink indicator selection for assessing sustainability of agriculture

© 2016 Springer Science+Business Media Dordrecht. Sustainability indicators are well recognized for their potential to assess and monitor sustainable development of agricultural systems. A large number of indicators are proposed in various sustainability assessment frameworks, which raises concerns regarding the validity of approaches, usefulness and trust in such frameworks. Selecting indicators requires transparent and well-defined procedures to ensure the relevance and validity of sustainability assessments. The objective of this study, therefore, was to determine whether experts agree on which criteria are most important in the selection of indicators and indicator sets for robust sustainability assessments. Two groups of experts (Temperate Agriculture Research Network and New Zealand Sustainability Dashboard) were asked to rank the relative importance of eleven criteria for selecting individual indicators and of nine criteria for balancing a collective set of indicators. Both ranking surveys reveal a startling lack of consensus amongst experts about how best to measure agricultural sustainability and call for a radical rethink about how complementary approaches to sustainability assessments are used alongside each other to ensure a plurality of views and maximum collaboration and trust amongst stakeholders. To improve the transparency, relevance and robustness of sustainable assessments, the context of the sustainability assessment, including prioritizations of selection criteria for indicator selection, must be accounted for. A collaborative design process will enhance the acceptance of diverse values and prioritizations embedded in sustainability assessments. The process by which indicators and sustainability frameworks are established may be a much more important determinant of their success than the final shape of the assessment tools. Such an emphasis on process would make assessments more transparent, transformative and enduring

Prevalence and incidence density rates of chronic comorbidity in type 2 diabetes patients: An exploratory cohort study

Contains fulltext : 109144.pdf (publisher's version ) (Open Access)ABSTRACT: BACKGROUND: Evidence-based diabetes guidelines generally neglect comorbidity, which may interfere with diabetes management. The prevalence of comorbidity described in patients with type 2 diabetes (T2D) shows a wide range depending on the population selected and the comorbid diseases studied. This exploratory study aimed to establish comorbidity rates in an unselected primary-care population of patients with T2D. METHODS: This was a cohort study of 714 adult patients with newly diagnosed T2D within the study period (1985-2007) in a practice-based research network in the Netherlands. The main outcome measures were prevalence and incidence density rates of chronic comorbid diseases and disease clusters. All chronic disease episodes registered in the practice-based research network were considered as comorbidities. We categorised comorbidity into 'concordant' (that is, shared aetiology, risk factors, and management plans with diabetes) and 'discordant' comorbidity. Prevalence and incidence density were assessed for both categories of comorbidity. RESULTS: The mean observation period was 17.3 years. At the time of diabetes diagnosis, 84.6% of the patients had one or more chronic comorbid disease of 'any type', 70.6% had one or more discordant comorbid disease, and 48.6% and 27.2% had three or more chronic comorbid diseases of 'any type' or of 'discordant only', respectively. A quarter of those without any comorbid disease at the time of their diabetes diagnosis developed at least one comorbid disease in the first year afterwards. Cardiovascular diseases (considered concordant comorbidity) were the most common, but there were also high rates of musculoskeletal and mental disease. Discordant comorbid diseases outnumbered concordant diseases. CONCLUSIONS: We found high prevalence and incidence density rates for both concordant and discordant comorbidity. The latter may interfere with diabetes management, thus future research and clinical practice should take discordant comorbidity in patients with T2D into account.10 p

OLAP Analysis of Integrated Pest Management’s Defense Rules: Application to Olive Crop in Apulia Region

The Agri-Food sector is facing global challenges. The first concerns feeding a world population that in 2050, according to UN projections, will reach 9.3 billion people. The second challenge is the request by consumers for high quality products obtained by more sustainable, safely and clear agri-food chains. The Integrated Pest Management (IPM) could be an important instrument to help farmers to face these challenges. The IPM requires the simultaneous use of different crop protection techniques for the control of pests through an ecological and economic approach. This work explores the possibility to develop a framework that combines the Information and Communication Technologies (ICTs) with the IPM principles, in order to support the farmers in the decisional process, improving environmental and production performances. The proposed ICT tool is On-Line Analytical Processing (OLAP), which allows performing analysis in the domain of time and space verifying for a single farm the respect of the IPM technical specifications