43 research outputs found

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

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    The author was supported by the Wellcome Trust [076566/Z/05/Z]; [075491/Z/04] and the Medical Research Council [G0800523/86473].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.Peer reviewe

    AREE AGRICOLE AD ELEVATO VALORE NATURALISTICO: UNA PRIMA MAPPATURA PER IL FRIULI VENEZIA GIULIA

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    Studi effettuati a livello europeo evidenziano che, frequentemente, livelli di biodiversità stabili si sono mantenuti in quelle aree caratterizzate da pratiche agricole estensive. Per tale ragione la Commissione Europea ritiene prioritaria la salvaguardia di tali aree e ha messo a punto una metodologia finalizzata alla mappatura di tali aree a scala europea (Paracchini et al., 2006). Questo studio ha previsto l'applicazione e l'adattamento del metodo sviluppato a livello europeo nella regione Friuli Venezia Giulia, al fine di valutarne la validità per la realtà regionale, anche alla luce delle potenzialità e dei limiti dei dati necessari per la sua implementazione. Il metodo europeo prevede l'individuazione di tre tipologie di aree AEVN (Andersen et al., 2003; Hoogeven, 2004): 1. le aree caratterizzate da una copertura a vegetazione semi-naturale con alti livelli di biodiversità, come prati stabili, pascoli, prati-pascoli, prati poliennali; 2. le aree caratterizzate da un mosaico di piccoli appezzamenti colturali a bassa intensità produttiva, associati alla presenza di elementi naturali e semi-naturali o di elementi lineari; 3. le aree che costituiscono un habitat per specie rare, per una quota rilevante della popolazione di una specie (europea o mondiale) o semplicemente ospitano un elevato numero di specie e habitat. Il lavoro ha previsto la creazione di una carta delle aree AEVN di tipo 1 e 2 a partire da elaborazioni su cartografia di uso del suolo a scala 1:25.000 in ambiente GIS (Paracchini et al., 2006). Successivamente è stata creata una carta delle aree agricole che costituiscono un habitat per specie rare (aree di tipo 3) selezionando dai siti di Natura 2000 (SIC e ZPS) determinati habitat la cui esistenza dipende completamente o parzialmente dall'attività agricola secondo una lista proposta da Ostermann (1998). Le due carte sono state unite per creare una carta delle aree agricole ad elevato valore naturalistico per il Friuli Venezia Giulia. La carta mostra che le aree AEVN nel loro complesso sono più concentrate nella parte settentrionale della regione in corrispondenza delle zone Alpina e Prealpina, dove rivestono particolare importanza rispettivamente le aree a pascolo naturale e praterie d'alta quota, le aree con sistemi colturali e particellari complessi e quelle prevalentemente occupate da colture agrarie inframmezzate da spazi naturali. L'approccio, pur consentendo una prima mappatura delle aree AEVN in regione Friuli Venezia Giulia, ha evidenziato alcuni limiti derivati da una lato dalla indisponibilità di dati su alcuni tematismi e dall’altro dalla scelta, secondo la metodologia europea, delle classi di uso del suolo

    M'ama non m'ama

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    Scheda relativa all'opera "M'ama non m'ama" di Riccardo Paracchini nel 199

    Hematologic and biochemical variables of hedgehogs (Erinaceus europaeus) after overwintering in rehabilitation centers

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    Background: Information about laboratory reference intervals (RIs) of European Hedgehog (Erinaceus europaeus) hospitalized at rehabilitation centers is scarce. Objective: The purpose of this study was to establish hematologic and biochemical RIs for rehabilitated hedgehogs before the release into the wild, and to assess whether sex and management of the center influence laboratory results. Methods: Blood was collected from 50 hedgehogs at 3 centers. Thirty-eight animals were included in the study based on normal body weight, absence of clinical signs of disease, Bunnell index > 0.80, and absence of hibernation during overwintering. CBCs were performed using an automated laser cell counter followed by morphologic analysis of blood smears. Clinical biochemistry was performed using an automated spectrophotometer. RIs were determined as recommended by the ASVCP guidelines. Results: Hematology profiles revealed a prevalence of lymphocytes, a constant presence of nucleated RBCs, Howell-Jolly bodies and basophils, and bilobed nuclei in neutrophils and eosinophils. Biochemistry profiles were characterized by higher creatinine and urea concentrations, and higher ALP and GGT activities compared with other domestic species. The sex did not influence the results. Conversely, numbers of eosinophils, activated and large granular lymphocytes, and concentrations of total protein, glucose and cholesterol were different among the centers, likely due to different management practices (eg, antiparasitic treatments, environmental exposure to microorganisms, diet). Conclusion: The RIs established in this study can be used to monitor the health status of hedgehogs in rehabilitation centers. As management practices appeared to influence some variables, it is recommended to standardize the management protocols to minimize their influence on laboratory data

    Development of an LCA-based tool to assess the level of eco-friendliness of a cosmetic product

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    LAUREA MAGISTRALEI concetti di sostenibilità e sviluppo sostenibile sono ormai insiti nella società moderna e sempre più imprese stanno includendo nella loro strategia obiettivi di sostenibilità. In questo contesto, misurare l'eco-friendliness di un prodotto, di un’ organizzazione o supply chain diventa cruciale. Tra le metodologie per valutare la sostenibilità ambientale la LCA è la più conosciuta anche se non si tratta di uno strumento che consente di determinare il livello di sostenibilità di un prodotto, e una sistematica analisi della letteratura ha rivelato come pochi strumenti di questo tipo siano presenti, soprattutto nel settore cosmetico. Partendo da queste considerazioni, in questo lavoro di tesi viene presentato uno strumento che può aiutare un terzista di cosmetici a classificare i suoi prodotti in termini di eco-friendliness. Lo strumento è stato progettato attraverso l’attuazione di una metodologia caratterizzata da un legame stretto tra ricerche teoriche e pratiche, consentendo sia la sua definizione che la conseguente validazione. Il punto di partenza per l’implementazione dello strumento valutatore di eco-fiendliness è rappresentato dall’analisi LCA di un prodotto cosmetico, seguita poi dal calcolo di un punteggio relativo agli impatti ambientali generati dal prodotto stesso (i.e., Environmental Impacts Score). Per considerare anche l’interesse nella sostenibilià ambientale dei fornitori dell’azienda produttrice di cosmetici, viene calcolato il Suppliers Environmental Impacts Assessment Score dai risultati ottenuti da un questionario compilato dai venditori delle materie prime. Integrando i due output in una matrice, quattro possibili livelli di eco-friendliness sono definiti.The concepts of sustainability and sustainable development are embedded in modern society and many companies are including sustainability goals in their strategy. In this context, measuring the eco-friendliness of a product, organization, or supply chain, is becoming crucial. Among the environmental sustainability assessment methodologies, Life Cycle Assessment (LCA) is the best known, although it is not a tool enabling the determination of the level of sustainability of a product, and a systematic literature review revealed that few such instruments are available, in particular within the cosmetics sector. Starting from these considerations, in this thesis work is displayed a tool that can help a cosmetics manufacturer to classify its products in terms of eco-friendliness. The tool was designed through the application of a methodology characterized by a close link between theoretical and practical research, which allowed both the definition and the validation of the tool. The starting point of the eco-friendliness tool is represented by the LCA on a cosmetic product, followed by the calculation of a score related to the environmental impacts generated by the product itself (i.e., Environmental Impacts Score). To consider also the interest in the environmental sustainability of the cosmetics manufacturer’s suppliers, the Suppliers Environmental Sustainability Assessment Score is computed from a questionnaire filled out by the raw materials providers. By integrating the two outputs in a matrix, four possible levels of eco-friendliness are defined

    Regional and temporal heterogeneity of epithelial ovarian cancer tumor biopsies: implications for therapeutic strategies

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    Stage III/IV epithelial ovarian cancer (EOC) is a systemic disease. The clonal relationship among different tumor lesions at diagnosis (spatial heterogeneity) and how tumor clonal architecture evolves over time (temporal heterogeneity) have not yet been defined. Such knowledge would help to develop new target-based strategies, as biomarkers which can adjudge the success of therapeutic intervention should be independent of spatial and temporal heterogeneity. The work described in this paper addresses spatial and temporal heterogeneity in a cohort of 71 tumor biopsies using targeted NGS technology. These samples were taken from twelve high grade serous (HGS) and seven non HSG-EOC, both at the time of primary surgery when the tumor was naïve to chemotherapy and after chemotherapy. Matched tumor lesions growing in the ovary or at other anatomical sites show very different mutational landscapes with branched tumor evolution. Mutations in ATM, ATR, TGFB3, VCAM1 and COL3A1 genes were shared across all lesions. BRCA1 and BRCA2 genes were frequently mutated in synchronous lesions of non HGS-EOC. Relapsed disease seems to originate from resistant clones originally present at the time of primary surgery rather than from resistance acquired de novo during platinum based therapy. Overall the work suggests that EOC continues to evolve. More detailed mapping of genetic lesions is necessary to improve therapeutic strategies

    The Capacity of Periodontal Gel to Occupy the Spaces Inside the Periodontal Pockets Using Computational Fluid Dynamic

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    The aim of the current work is to demonstrate the capacity of a new periodontal gel to occupy the spaces inside the periodontal pockets through Computational Fluid Dynamic (CFD). The test gel consists of two resorbable medical grade polymers (PEO, Poly Ethylen Oxide and HPMC, Hydroxy Propyl Metyl Cellulose), Type I Collagen, SAP (Vitamin C), and PBS (Saline Solution), while the control gel is 14% doxyclin controlled release gel, which is used for treating periodontal pockets with probing ≥5 mm after scaling and root plaining. The study examined the fluid dynamic analysis (Computational Fluid Dynamic—CFD) of two different gels, used in dentistry to treat periodontitis, in relation to both the geometry of the periodontal pocket and the function of two different types of needles that are used to distribute the preparation. The periodontal pocket was determined by reading DICOM images taken from the patient’s CAT scan. The results show that the H42® gel comes out uniformly compared to the other gel. Moreover, it is possible to observe how the rheological properties of the gel allow the fluid to spread evenly within the periodontal pocket in relation to the geometry of the needle. In particular, H42® gel exits in a constant way both from the first and the second exit. In fact, it was observed that by changing the geometry of the needle or the type of periodontal gel, the distribution of the gel inside the pocket was no longer homogeneous. Thus, having the correct rheological properties and correct needle geometries both speeds up the gel and optimizes the pressure distribution. Currently, the literature is still lacking, therefore further studies will be needed to confirm these results

    Antiangiogenic activity of trabectedin in myxoid liposarcoma: Involvement of host TIMP-1 and TIMP-2 and tumor thrombospondin-1

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    Trabectedin is a marine natural product, approved in Europe for the treatment of soft tissue sarcoma and relapsed ovarian cancer. Clinical and experimental evidence indicates that trabectedin is particularly effective against myxoid liposarcomas where response is associated to regression of capillary networks. Here, we investigated the mechanism of the antiangiogenic activity of trabectedin in myxoid liposarcomas. Trabectedin directly targeted endothelial cells, impairing functions relying on extracellular matrix remodeling (invasion and branching morphogenesis) through the upregulation of the inhibitors of matrix metalloproteinases TIMP-1 and TIMP-2. Increased TIMPs synthesis by the tumor microenvironment following trabectedin treatment was confirmed in xenograft models of myxoid liposarcoma. In addition, trabectedin upregulated tumor cell expression of the endogenous inhibitor thrombospondin-1 (TSP-1, a key regulator of angiogenesis-dependent dormancy in sarcoma), in in vivo models of myxoid liposarcomas, in vitro cell lines and primary cell cultures from patients' myxoid liposarcomas. Chromatin Immunoprecipitation analysis showed that trabectedin displaced the master regulator of adipogenesis C/EBPβ from the TSP-1 promoter, indicating an association between the up-regulation of TSP-1 and induction of adipocytic differentiation program by trabectedin. We conclude that trabectedin inhibits angiogenesis through multiple mechanisms, including directly affecting endothelial cells in the tumor microenvironment--with a potentially widespread activity--and targeting tumor cells' angiogenic activity, linked to a tumor-specific molecular alteration

    Sustainable low-input farming system: the case of Marianis-Volpares farm.

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    A public farm (630 ha) located in Palazzolo dello Stella (UD) (L at. 45°48”N,Long.13°5’0”E) in the Friuli Venezia Giulia region of Italy, is managed by ERSA (Agenzia Regionale per lo Sviluppo Rurale) in order to promote environmentally friendly agriculture. The farm is a complex in which agricultural activities will be in harmony with the environment and landscape. Hedgerows, ditches, woods, ponds of fresh water, wet meadows and brackish wetlands will be introduced into the farm. Present high input farming systems (HIFS) is in transition to low input farming systems (LIFS) using good farming practices (GFP) to qualify the agrienvironment. Seeds suitable for LIFS will be tested; techniques of soil management such as minimum tillage and direct drilling will be used. Traditional rotation maize-soybean and maize-lucerne will be integrated with more environmentally friendly crop rotation systems introducing minor cereals, legumes and multi-species meadows for ley-arable rotation. Crop rotation will be managed to improve soil fertility and carbon sequestration, to reduce fertilizing intensity, to protect soil from erosion, to maintain soil organic matter (SOM) and soil structure and to reduce the use of pesticides. Cover crops will be introduced for manuring and catch crops for reducing water pollution by nitrates. Crop rotation, soil cover, fertilizing intensity, fertiliser uptake, nitrate leaching, mode of manuring, landscape elements will be used as main indicators. The present herd of 650 heads of cattle will be reduced to about 540. Buildings, barns for dairy cows, calving pens, and milking boxes will be restored to improve animal welfare. Energy will be supplied by anaerobic digestion of organic matter mixed with slurry (codigestion) by cogeneration and tri-generation processes. Meat, milk and dairy products of high quality will be certificated by labelling systems
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