22 research outputs found

    national bim digital platform for construction innovance project

    Get PDF
    INNOVance represents the first digital platform in the construction sector with BIM methodology on a national level. It's also a BIM library, a Common Data Environment (CDE) of BIM projects in a contract, for sharing work information, and a data exchange platform for the entire construction sector. The platform operates in accordance with the UNI 11337: 2009 standard and it is the origin of the UNI 11337: 2017 standard group. The project was formed within the research relating to the Competitive Call: Energy Efficiency, Industry 2015, promoted by the Ministry of Economic Development (MISE)

    Genome-wide Association Study of Borderline Personality Disorder Reveals Genetic Overlap with Bipolar Disorder, Major Depression and Schizophrenia

    Get PDF
    Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report describes the first case–control genome-wide association study (GWAS) of BOR, performed in one of the largest BOR patient samples worldwide. The focus of our analysis was (i) to detect genes and gene sets involved in BOR and (ii) to investigate the genetic overlap with BIP. As there is considerable genetic overlap between BIP, major depression (MDD) and schizophrenia (SCZ) and a high comorbidity of BOR and MDD, we also analyzed the genetic overlap of BOR with SCZ and MDD. GWAS, gene-based tests and gene-set analyses were performed in 998 BOR patients and 1545 controls. Linkage disequilibrium score regression was used to detect the genetic overlap between BOR and these disorders. Single marker analysis revealed no significant association after correction for multiple testing. Gene-based analysis yielded two significant genes: DPYD (P=4.42 × 10−7) and PKP4 (P=8.67 × 10−7); and gene-set analysis yielded a significant finding for exocytosis (GO:0006887, PFDR=0.019; FDR, false discovery rate). Prior studies have implicated DPYD, PKP4 and exocytosis in BIP and SCZ. The most notable finding of the present study was the genetic overlap of BOR with BIP (rg=0.28 [P=2.99 × 10−3]), SCZ (rg=0.34 [P=4.37 × 10−5]) and MDD (rg=0.57 [P=1.04 × 10−3]). We believe our study is the first to demonstrate that BOR overlaps with BIP, MDD and SCZ on the genetic level. Whether this is confined to transdiagnostic clinical symptoms should be examined in future studies

    Evidence of causal effect of major depression on alcohol dependence: findings from the psychiatric genomics consortium

    Get PDF
    BACKGROUND Despite established clinical associations among major depression (MD), alcohol dependence (AD), and alcohol consumption (AC), the nature of the causal relationship between them is not completely understood. We leveraged genome-wide data from the Psychiatric Genomics Consortium (PGC) and UK Biobank to test for the presence of shared genetic mechanisms and causal relationships among MD, AD, and AC. METHODS Linkage disequilibrium score regression and Mendelian randomization (MR) were performed using genome-wide data from the PGC (MD: 135 458 cases and 344 901 controls; AD: 10 206 cases and 28 480 controls) and UK Biobank (AC-frequency: 438 308 individuals; AC-quantity: 307 098 individuals). RESULTS Positive genetic correlation was observed between MD and AD (rgMD−AD = + 0.47, P = 6.6 × 10−10). AC-quantity showed positive genetic correlation with both AD (rgAD−AC quantity = + 0.75, P = 1.8 × 10−14) and MD (rgMD−AC quantity = + 0.14, P = 2.9 × 10−7), while there was negative correlation of AC-frequency with MD (rgMD−AC frequency = −0.17, P = 1.5 × 10−10) and a non-significant result with AD. MR analyses confirmed the presence of pleiotropy among these four traits. However, the MD-AD results reflect a mediated-pleiotropy mechanism (i.e. causal relationship) with an effect of MD on AD (beta = 0.28, P = 1.29 × 10−6). There was no evidence for reverse causation. CONCLUSION This study supports a causal role for genetic liability of MD on AD based on genetic datasets including thousands of individuals. Understanding mechanisms underlying MD-AD comorbidity addresses important public health concerns and has the potential to facilitate prevention and intervention efforts

    Integrated analysis of environmental and genetic influences on cord blood DNA methylation in new-borns

    Get PDF
    Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overall n = 2365). We use Akaike’s information criterion to test which factors best explain variability of methylation in the cohort-specific VMRs: several prenatal environmental factors (E), genotypes in cis (G), or their additive (G + E) or interaction (GxE) effects. Genetic and environmental factors in combination best explain DNAm at the majority of VMRs. The CpGs best explained by either G, G + E or GxE are functionally distinct. The enrichment of genetic variants from GxE models in GWAS for complex disorders supports their importance for disease ris

    Early arm swelling after breast surgery: changes on both sides

    No full text
    Lymphedema is a common complication of treatment for breast cancer. However, little information is available describing changes in upper limb volumes in the early stages following surgery.Retrospective audit.Women who underwent unilateral mastectomy or axillary node removal for breast cancer at the Princess Alexandra Hospital, Brisbane, Australia.Circumferential measurements taken at 10 cm intervals from the ulnar styloid on each arm were converted to segmental volumes using the frustum approach.Pre-surgery baseline measures were taken by a physiotherapist at Preadmission Clinic at the Princess Alexandra Hospital. Follow-up measures were taken 6 weeks after surgery by Domiciliary Allied Health Acute Care and Rehabilitation Service physiotherapists in patients' homes.Limb segment volumes increased in the proximal upper limb segments at follow-up. The proportion of patients with a 10% or greater increase in volume in one or more segments of their upper limb were similar for ipsilateral (35%) and contralateral (32%) sides (to side of surgery), respectively. No significant interaction between time and arm (ipsilateral versus contralateral) was identified.These findings demonstrate that limb segment volume changes affect a greater proportion of patients during the first 6 weeks following surgery than previously recorded. They also indicate that flow of lymph from the side of surgery to the contralateral side may disperse lymph between sides during this early post-operative period. This has implications for how swelling is measured during this period and strategies to prevent onset of lymphedema

    Flow, leisure, and positive youth development

    No full text
    Leisure has been associated with several developmental opportunities that foster adolescents’ optimal growth. Considering leisure as a context, activity or experience, researchers have focused on its role in the study of flow experience. Both leisure and flow experiences, and the way they interrelate, emerge as relevant to promoting positive youth development, daily and along life trajectories. This chapter aims to present and analyze conceptual and empirical evidence about the connection between positive youth development, leisure, and flow experience. Among the empirical evidence, we highlight studies from our Portuguese research team, the Research Group on Optimal Functioning - GIFOp, aimed at studying adolescents’ optimal functioning. Specifically, we illustrate results according to different aims and methodologies. In this sense, we discuss adolescents’ daily life perceptions of activities and quality of experiences, and future life goals, measured by retrospective self-report questionnaires; and flow, optimal experience and motivational aspects of subjective experience, by real-time measures, specifically the Experience Sampling Method (ESM). The conclusion sheds light on the importance of a psycho-social-ecological approach when studying adolescents’ flow and leisure experiences and how these enhance positive youth development. Future research directions will consider the importance of merging school and leisure contexts, highlighting the role of leisure structured activities to promote flow and optimal experiences, when considered as different components of subjective experience. In addition, the use of different methodologies based on both retrospective and realtime measures, are addressed as being equally important and relevant to continue the main conceptual discussion around flow and optimal experiences in adolescence.(undefined)info:eu-repo/semantics/publishedVersio
    corecore