52 research outputs found

    A prediction algorithm for drug response in patients with mesial temporal lobe epilepsy based on clinical and genetic information

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    FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOMesial temporal lobe epilepsy is the most common form of adult epilepsy in surgical series. Currently, the only characteristic used to predict poor response to clinical treatment in this syndrome is the presence of hippocampal sclerosis. Single nucleotide121FAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULOFAPESP - FUNDAÇÃO DE AMPARO À PESQUISA DO ESTADO DE SÃO PAULO2013/07559-

    New insights into the genetic etiology of Alzheimer's disease and related dementias

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    Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele

    Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

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    Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

    Application of food metabolomics for the development of standardized food matrices

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    Epidemiological evidence indicates that there is an inverse association between consumption of cruciferous vegetables (such as broccoli, Brussels sprout and cauliflower) and risk of cancer and cardiovascular disease. These vegetables contain numerous bioactive compounds (vitamins, minerals, glucosinolates and phenolic compounds) that have been considered responsible for their health-promoting properties. However, the interactions and the possible synergies between these molecules and the complexity of the food matrix make difficult to understand the real biological role of each molecules. Broccoli sprouts have a particularly high content of bioactive molecules, whose concentration in plants responds to changes of environmental growth conditions. Then, acting on growth condition, it is possible to affect the overall bioactive molecules network. In this work, we searched for the best growth conditions and inducers able to increase the content of different bioactive molecules (glucosinolates, phenolic compounds, flavonoids, anthocyanins, vitamins and ïą-carotene) in broccoli sprouts. Targeted food-metabolomic and multivariate analysis allowed us to identify “light plus sucrose” as the best inducer of the bioactive network. Then, broccoli sprouts grown in the dark or in the “light plus sucrose” were used to produce a juice. The targeted and untargeted metabolomics analysis revealed large, but reproducible, differences between the two juices. This standardized compositional diversity can be used as a tool to investigate the biological role of different bioactive molecules embedded in their food matrix, both in in vitro (cellular model) and in in vivo models (animal model and humans

    Application of food metabolomics for the development of standard food matrices

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    Application of food metabolomics for the development of standardized food matrices 1. Natellal, S. Baimal, M. Maldinil, K. Trost2. M. Nardinil, F. Azzinii, M.S. Foddall, A.M. Giusti3, F Mattivi2, G. Morelli1 and C. Scaccini1 /CRA-NUT, Food and Nutrition Research Centre of Consiglio di Ricerca e Sperimcntazione in Agricoltura, Via Ardentina 546, 00178 Rome, 1taly; 2Research and Innovation Centre, Founduation Edmund, Mach, Via E, Mach 381010 S.Michele all’Adige (TN), Italy; 3Department of Experimental Medicine, Medical Physiopatholotgy, Food Science and Endocrinology Section. P.le Aldo Moro, 5, 00187, Italy; [email protected] Epidemiological evidence indicates that there is an inverse association between consumption of cruciferous vegetables (such as broccoli, Brussels sprout and cauliflower) and risk of cancer and cardiovascular disease. These vegetables contain numerous bioactive compounds (vitamins, minerals, giucosinolates and phenolic compounds) that have been considered responsible for their health-promoting properties. However, the interactions and the possible synergies between these molecules and the complexity of the food matrix make difficult to understand the real biological role of the single bioactive compound. Broccoli sprouts have a particularly high content of bioactive molecules, whose concentration in plants responds to changes of environmental growth conditions. Then, acting on growth condition, it is possible to affect the overall bioactive molecules network. In this work, we searched for the best growth conditions and inducers able to increase the content of different bioactive molecules (glucosinolates, phenolic compounds, flavonoids, anthocyanins, vitamins and ÎČ-carotene) in broccoli sprouts. Targeted food-metabolomic and multivariate analysis allowed us to identify 'light plus sucrose' as the best inducer of the bioactive network. Then, broccoli sprouts grown in the dark or in the 'light plus sucrose' were used to produce a juice. The targeted and untargeted metabolomics analysis revealed large, but reproducible, differences between the two juices. This standardized compositional diversity can he used as a tool to investigate the biological role of different bioactive molecules embedded in their food matrix, both in in vitro (cellular model) and in in vivo models (animal model and humans)
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