Movable wall and system with environmental condition optimisation functions

The present invention relates to the field of control of indoor environmental conditions. In particular, the invention relates to a movable wall with environmental condition optimisation functions, as well as a system comprising such movable wall, and an environmental condition optimisation method

Genome-wide screening for DNA variants associated with reading and language traits

This research was funded by: Max Planck Society, the University of St Andrews - Grant Number: 018696, US National Institutes of Health - Grant Number: P50 HD027802, Wellcome Trust - Grant Number: 090532/Z/09/Z, and Medical Research Council Hub Grant Grant Number: G0900747 91070Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a genome‐wide association scan (GWAS) meta‐analysis using three richly characterized datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading‐ and language‐related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected P ≈ 10–7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on‐going international efforts to identify genes contributing to reading and language skills.Publisher PDFPeer reviewe

The Current-Temperature Phase Diagram of Layered Superconductors

The behavior of clean layered superconductors in the presence of a finite electric current and in zero-magnetic field behavior is addressed. The structure of the current temperature phase diagram and the properties of each of the four regions will be explained. We will discuss the expected current voltage and resistance characteristics of each region as well as the effects of finite size and weak disorder on the phase diagram. In addition, the reason for which a weakly non-ohmic region exists above the transition temperature will be explained.Comment: 8 pages (RevTeX), 4 encapsulated postscript figure

Agricultural biomass as provisioning ecosystem service: quantification of energy flows

Agro-ecosystems supply provisioning, regulating and cultural services to human society. This study focuses on the agro-ecosystem provisioning services regarding the production of agricultural biomass. These services strongly respond to the socio-economic demands of human beings, and are characterised by an injection of energy in the ecosystems production cycle which is often exceeding the ecological capacity of the ecosystem, i.e. the overall ability of the ecosystem to produce goods and services linked to its bio-physical structure and processes that take place during the agricultural production. Agricultural production is identified as ecosystem service in widely recognised ecosystem service frameworks, but currently there is no clear agreement within the scientific and policy communities on how the ecological-socio-economic flow linked to this provisioning service should be assessed, beyond a mere accounting of yields. This study attempts to provide a new insight to this issue by proposing an approach based on the energy budget, which takes into consideration the energy needed by the ecosystem to supply the service. The approach is based on the concepts of Energy Return on Investment (EROI) and Net Energy Balance (NEB), and considers different bio-physical structures and processes of agroecosystems. The work is structured in three parts: the first aims at estimating inputs (machinery, seeds, fertilizers, irrigation, labour) in energy terms; the second at estimating biomass output in energy terms; the third to compare actual agricultural production with three reference scenarios encompassing a range of human input (no input – low input –high input scenarios). Results show that in general terms cereal and grassland systems have the largest energy gains (both in terms of EROI and NEB). Such systems are characterised by a lower economic value of their output compared to other producing systems such as fruits, which have lower energy gains but a higher embodied energy, which is recognized in the market as valuable. Comparison of actual production systems with the high input scenario confirms that current production in Europe is already highly intensive, and that increasing the energy input would not improve the efficiency of the conversion of such additional energy into biomass. Overall, the proposed approach seems a useful tool to identify which are the factors in the agricultural production process that could be modified to improve the energy efficiency in agricultural systems and the sustainability of their production. This study can be considered as a first step in the assessment of the total energy balance of the agro-ecosystem. In fact it deals with the quantification of energy regarding human inputs and the corresponding output and further analysis should address crucial issues such as the quality of the energy and the embodied energy in the plant production, which will help to better understand the complexity of the agro-ecosystems

Measuring societal awareness of the rural agrarian landscape: indicators and scale issues

The work presented in this report is part of the effort to define the landscape state and diversity indicator in the frame of COM (2006) 508 “Development of agri-environmental indicators for monitoring the integration of environmental concerns into the common agricultural policy”. The Communication classifies the indicators according to their level of development, which, for the landscape indicator is “in need of substantial improvements in order to become fully operational”. For this reason a full re-definition of the indicator has been carried out, following the initial proposal presented in the frame of the IRENA operation (“Indicator Reporting on the Integration of Environmental Concerns into Agricultural Policy”). The new proposal for the landscape state and diversity indicator is structured in three components: the first concerns the degree of naturalness, the second landscape structure, the third the societal appreciation of the rural landscape. While the first two components rely on a strong bulk of existing literature, the development of the methodology has made evident the need for further analysis of the third component, which is based on a newly proposed top-down approach. This report presents an in-depth analysis of such component of the indicator, and the effort to include a social dimension in large scale landscape assessment

More green infrastructure is required to maintain ecosystem services under current trends in land-use change in Europe

Green infrastructure (GI), a network of nature, semi-natural areas and green space, delivers essential ecosystem services which underpin human well-being and quality of life. Maintaining ecosystem services through the development of GI is therefore increasingly recognized by policies as a strategy to cope with potentially changing conditions in the future. This paper assessed how current trends of land-use change have an impact on the aggregated provision of eight ecosystem services at the regional scale of the European Union, measured by the Total Ecosystem Services Index (TESI8). Moreover, the paper reports how further implementation of GI across Europe can help maintain ecosystem services at baseline levels. Current demographic, economic and agricultural trends, which affect land use, were derived from the so called Reference Scenario. This scenario is established by the European Commission to assess the impact of energy and climate policy up to 2050. Under the Reference Scenario, economic growth, coupled with the total population, stimulates increasing urban and industrial expansion. TESI8 is expected to decrease across Europe between 0 and 5 % by 2020 and between 10 and 15 % by 2050 relative to the base year 2010. Based on regression analysis, we estimated that every additional percent increase of the proportion of artificial land needs to be compensated with an increase of 2.2 % of land that qualifies as green infrastructure in order to maintain ecosystem services at 2010 levels.JRC.H.8-Sustainability Assessmen

Dissection of genetic associations with language-related traits in population-based cohorts

Recent advances in the field of language-related disorders have led to the identification of candidate genes for specific language impairment (SLI) and dyslexia. Replication studies have been conducted in independent samples including population-based cohorts, which can be characterised for a large number of relevant cognitive measures. The availability of a wide range of phenotypes allows us to not only identify the most suitable traits for replication of genetic association but also to refine the associated cognitive trait. In addition, it is possible to test for pleiotropic effects across multiple phenotypes which could explain the extensive comorbidity observed across SLI, dyslexia and other neurodevelopmental disorders. The availability of genome-wide genotype data for such cohorts will facilitate this kind of analysis but important issues, such as multiple test corrections, have to be taken into account considering that small effect sizes are expected to underlie such associations

Role of simian virus 40 in cancer incidence in solid organ transplant patients

Transplant recipients have an increased risk of developing cancer in comparison with the general population. We present here data on cancer development in transplanted subjects who received organs from donors whose DNA was previously examined for the genomic insertion of Simian Virus 40 (SV40). Active follow-up of 387 recipients of solid organs donated by 134 donors, not clinically affected by cancer, was performed through the National Transplant Center (NTC). The average length of follow-up after transplant was 671±219 days (range 0–1085 days). Out of 134 proposed donors, 120 were utilised for organ donation. Of these, 12 (10%) were classified as positive for SV40 genomic insertion. None of the 41 recipients of organs from SV40 positive donors developed a tumour during the follow-up. In all, 11 recipients of organs given by SV40 negative donors developed a tumour (cancer incidence: 0.015 per year). In conclusion, cancer rates observed in our study are comparable to what reported by the literature in transplanted patients. Recipients of solid organs from SV40 positive donors do not have an increased risk of cancer after transplant. The role of SV40 in carcinogenesis in transplanted patients may be minimal

A Common Variant Associated with Dyslexia Reduces Expression of the KIAA0319 Gene

Numerous genetic association studies have implicated the KIAA0319 gene on human chromosome 6p22 in dyslexia susceptibility. The causative variant(s) remains unknown but may modulate gene expression, given that (1) a dyslexia-associated haplotype has been implicated in the reduced expression of KIAA0319, and (2) the strongest association has been found for the region spanning exon 1 of KIAA0319. Here, we test the hypothesis that variant(s) responsible for reduced KIAA0319 expression resides on the risk haplotype close to the gene's transcription start site. We identified seven single-nucleotide polymorphisms on the risk haplotype immediately upstream of KIAA0319 and determined that three of these are strongly associated with multiple reading-related traits. Using luciferase-expressing constructs containing the KIAA0319 upstream region, we characterized the minimal promoter and additional putative transcriptional regulator regions. This revealed that the minor allele of rs9461045, which shows the strongest association with dyslexia in our sample (max p-value = 0.0001), confers reduced luciferase expression in both neuronal and non-neuronal cell lines. Additionally, we found that the presence of this rs9461045 dyslexia-associated allele creates a nuclear protein-binding site, likely for the transcriptional silencer OCT-1. Knocking down OCT-1 expression in the neuronal cell line SHSY5Y using an siRNA restores KIAA0319 expression from the risk haplotype to nearly that seen from the non-risk haplotype. Our study thus pinpoints a common variant as altering the function of a dyslexia candidate gene and provides an illustrative example of the strategic approach needed to dissect the molecular basis of complex genetic traits

Hypothesis-driven genome-wide association studies provide novel insights into genetics of reading disabilities

Funding: Support for the Toronto project was provided by grants from the Canadian Institutes of Health Research (MOP-133440 and PJT-180419). K.P. was supported by the Hospital for Sick Children Research Training Program. E.E. and S.E.F. are supported by the Max Planck Society.Reading Disability (RD) is often characterized by difficulties in the phonology of the language. While the molecular mechanisms underlying it are largely undetermined, loci are being revealed by genome-wide association studies (GWAS). In a previous GWAS for word reading (Price, 2020), we observed that top single-nucleotide polymorphisms (SNPs) were located near to or in genes involved in neuronal migration/axon guidance (NM/AG) or loci implicated in autism spectrum disorder (ASD). A prominent theory of RD etiology posits that it involves disturbed neuronal migration, while potential links between RD-ASD have not been extensively investigated. To improve power to identify associated loci, we up-weighted variants involved in NM/AG or ASD, separately, and performed a new Hypothesis-Driven (HD)–GWAS. The approach was applied to a Toronto RD sample and a meta-analysis of the GenLang Consortium. For the Toronto sample (n = 624), no SNPs reached significance; however, by gene-set analysis, the joint contribution of ASD-related genes passed the threshold (p~1.45 × 10–2, threshold = 2.5 × 10–2). For the GenLang Cohort (n = 26,558), SNPs in DOCK7 and CDH4 showed significant association for the NM/AG hypothesis (sFDR q = 1.02 × 10–2). To make the GenLang dataset more similar to Toronto, we repeated the analysis restricting to samples selected for reading/language deficits (n = 4152). In this GenLang selected subset, we found significant association for a locus intergenic between BTG3-C21orf91 for both hypotheses (sFDR q < 9.00 × 10–4). This study contributes candidate loci to the genetics of word reading. Data also suggest that, although different variants may be involved, alleles implicated in ASD risk may be found in the same genes as those implicated in word reading. This finding is limited to the Toronto sample suggesting that ascertainment influences genetic associations.Publisher PDFPeer reviewe