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The EQTLs Catalog and LinDA browser: a platform for determining the effects on transcription of GWAS variants
The expression Quantitative Traits Locus (eQTL) is a genetic polymorphism associated with changes in gene expression levels. They have been successfully used to pioritize the target genes of the variants associated with complex traits and diseases (GWAS variants). Existing eQTLs databases collect only a small portion of the available datasets. We planned to build the largest publically available catalog of eQTLs, coupled with a browser, to optimize and simplify their interrogation. We collected and manually curated 51 eQTL public studies ranging from 2007 to date, corresponding to more than 94 tissues/cells/conditions and 15 human populations for a total of 275,727 cis-eQTLs and 33,241 genes with at least one cis-eQTL (cis-eGenes). We found that for 93% of the known protein-coding genes were eGenes, 22% of them intersecting (r2≥0.8) with the NHGRI-EBI GWAS Catalog and 26% of whom considered as druggable. Furthermore, for those GWAS variants for which at least an eGene was known, we found that the NHGRI-EBI GWAS Catalog proposed at least one of the same genes as candidate target only for the 70% of the times. Our eQTL-Catalog can be used as a reference to measure the degree of novelty for future eQTLs studies; it is provided within a platform with the web-browser LinDA (http://linda.irgb.cnr.it) implemented with other types of quantitative traits (i.e. epigenetic, proteomic) to better dissect the pleiotropy of the GWAS variants
Resveratrol supplementation during in vitro maturation: effect on the quality of oocyte in species of veterinary interest
The oocyte quality represents a crucial factor in the outcomes of in vitro embryo production.
However, different intrinsic and extrinsic conditions can impair the quality of mammalian oocytes, decreasing their developmental competence. The general aim of this thesis was to evaluate the effect of supplementation of resveratrol (resv), a natural antioxidant, during in vitro maturation on the quality of oocytes, in species of veterinary interest (domestic cat, prepubertal goats and sheep).
The research includes three different studies which were performed to test the potential beneficial influence of resveratrol to improve the in vitro developmental competence of poor-quality oocytes such as oocytes under sub-optimal condition (oocytes retrieved from domestic cat cold stored ovaries study I, and ovine oocytes exposed to environmental contaminants, study III) and with low developmental competence (oocytes from prepubertal goats, study II).
In the three studies the addition of resv during IVM allowed to improve fertilization and development to the blastocyst stage compared to control groups.
The mechanism underlying resv effect included regulation of bioenergetic / redox status of the oocytes by the modulation of mitochondrial activity and intra-cytoplasmic levels of reactive oxygen species and glutathione. Resveratrol also promoted normal cortical granules and mitochondria distribution, essential for correct cytoplasmic maturation
Wildfire spread simulation modeling for risk assessment and management in Mediterranean areas
Wildfires are a key problem in many terrestrial ecosystems, particularly in the Mediterranean Basin, and climate change will likely cause their increase in future years. Wildfire behavior simulator models are very useful to characterize wildfire risk, identify the valued resources more exposed to wildfires and to plan the best strategies to mitigate risk. In this work, we first carried out a review of wildfire spread and behavior modelling, and then focusing on FLAMMAP model. Then, we evaluated the effects of diverse strategies of fuel treatments on wildfire risk in an agro-pastoral area of the North-central Sardinia (Italy) that has been affected by the largest Sardinian wildfire of recent years (Bonorva wildfire, about 10,500 ha burned, on July 2009). Finally we analyzed the combined effects of fuel treatments and post-fire treatments with the aim to mitigate wildfire and erosion risk, linking the minimum travel time algorithm with the Ermit modeling approach in a study area located in Northern Sardinia (Italy), mostly classified as European Site of Community Importance. Overall, the results obtained showed that wildfire behavior simulator models can support forest fire management and planning and can provide key spatial information and data that can be helpful to policy makers and land managers
Traditional foods towards product innovation: strategies to improve food safety and shelf-life of ricotta cheese
The main objective of the present thesis was to innovate the traditional ricotta cheeses produced in Sardinia (Italy). Innovation of traditional products can be obtained changing the manufacturing process through the introduction of production steps, ingredients or packaging. The purpose of this modernization process is to maintain the greater perceived quality and positive attitude of consumers toward traditional products, which include sensory properties and cultural heritage linked to the place of origin. At the same time there is the need to gain a competitive advantage on large scale market seeking to meet consumers’ demand of food safety and convenience. Therefore, the studies illustrated in the present thesis demonstrate the feasibility of introducing innovation strategies in the production of traditional ovine ricotta cheese. In particular are discussed four scientific studies dealing with several aspects of food quality: determination of durability based on evolution of spoilage and pathogen microorganism during the shelf-life; modification of product composition in order to take into account consumers’ special dietary needs (i.e. intolerance or allergies); use of protective cultures to control food spoilage during shelf-life
La Vocazione internazionale della Cina: attitudine al voto nel Consiglio di Sicurezza delle Nazioni Unite
The subject of this research falls within the framework of the International Relations debate on China’s rise in the contemporary international system, through a contribution on the study of its behaviour within international organizations, especially its voting pattern on United Nations Security Council, pursuing the aim of analyzing the nature of its diplomatic conduct.
The study of Chinese foreign policy and Chinese use of veto power within the Security Council, allows us to identify a trend in public diplomacy that can be explained in terms of strategic interests and economic top priorities, and puts China among the rational actors whose behaviour can be studied and described using one of the contemporary International Relations theoretical models.
Reviewing the various paradigms of International Relations’ concerning roles , functions and relevance of international institutions, we can identify the one that best describes, explains and rationalizes the present dynamics and recent developments occurring in the international society and China’s extraordinary integration within it: the neoliberal institutionalism
Prevenzione della Listeriosi: studio della contaminazione negli alimenti di origine animale e sorveglianza attiva in strutture sanitarie
Listeria monocytogenes is the causative agent of a serious foodborne bacterial disease called listeriosis. Symptoms could be limited to the gastrointestinal tract or cause a severe invasive illness causing meningitis, abortion, septicemia and death. The main objective of this work was to put in place a hospital network surveillance system in order conduct an epidemiological monitoring of clinical cases of foodborne human listeriosis in Northern Sardinia. The epidemiologic link between listeriosis and contaminated food was also investigated along with the main phenotypic and genotypic characteristics of isolates of human or food origin. The research activities included the study of the immune profile of patients with clinical listeriosis and the relationship with the consumption of different kind of food (cheeses and different categories of RTE food) and food processing environments. The results obtained showed a great prevalence of contamination of food although most of the time it was compliant with the legal limits established by EC. However, it is of particular concern the possible ingestion of these foods, mainly RTE, by high-risk categories of consumers. The data obtained represent an important tool for understanding the impact of L. monocytogenes contamination for human infection and preventing the spreading of the disease. The development of active surveillance programs is essential to characterize the circulating strains and their potential pathogenicity for human
L’Analisi della tutela giuridica dei rapporti familiari della persona detenuta nella teoria generale del diritto di famiglia
The concerned research had the aim to deeply examine the current state of the general theory of family law, according to an approach which sees it belonging to the category of social rights, by means of the study of the protection of the main family rights, considered in conjunction with the adult person in custody, and of the way this discipline has been modified over time, due to social changes and thanks to the science of legal psychology.
This paper highlights the theories which recognize the private law as a legal matter more and more mindful of social relationships and more and more looking after the consequences that different private-law institutes unavoidably produce inside the relationships established among the associates.
The family law is no longer on the border between private and public law, but rather in the social law category, understood as a third genus and as a new shared legal tool between private and public law. The issue of the general theory of family law applied to prison law has been dealt purely with psycho-legal tools.
Indeed, the focal point of this work is precisely the analysis of the relationships which tie all the individuals involved inside the detention context and all different profiles, to protect the same relationships according to the references placed before by the general theory of family law
Diabetes and medical devices: which device for which patient
Introduction
Diabetes is a chronic disease that occurs when the pancreas does not produce enough insulin. Insulin therapy is a pharmaceutical treatment used to lower blood glucose in all patients with diabetes type 1 (T1D) and type 2 (T2D).
Insulin therapy can be managed by different medical devices technologies such as insulin pumps and insulin pens.
Aim
To draw the profile of patients in insulin therapy with insulin pumps and insulin pens by identifying the variables that influence the choice of two different medical devices.
Tools and Methods
We developed a questionnaire to rate the lifestyles of these patients. Explorative Factor Analysis and Confirmatory Factor Analysis was performed to define and to confirm the factors that describe the profiles of these patients. Regression Models were performed to estimate the effects of observed variables on the choice of medical device and its cost.
Result
General Characteristics, Employment Information and Eating Habit are resulted the factors that define the characteristics of people with T1D and T2D, independently by medical devices used.
Conclusions
The results provide supporting evidence that are useful to the appropriate choice of medical device for insulin treatment.
Therefore, next development is to make the results more generalizable in order that they can be used by policy makers in healthcare for a better management of resources and the best appropriateness of the choice of two different medical devices
Diritto alla città e diritto all'ambiente urbano: dalle pratiche alle regole
The research is driven by the motivation to contribute to the elaboration of the "science of the city" (Lefebvre), through the study of relationships and correlations which insist in the city.
The choice is to investigate processes in which the lefebvrian concept of the “right to the city” is claimed in order to verify if it can be verified in these contexts not only the emergence of rights or a way of exercising rights related to the city. Above all, it intends to understand if a capacity for legal production can be identified.
Recognizing the impossibility and uselessness of denying the conflict, and even evaluating the contribution of urban movements and practices in promoting greater collective well-being, it was decided to verify their contribution to generate another meaning of the right to the city that include the genesis of rules and effective government tools.
It has been chosen to adopt a methodology strongly based on research-action and case-studies that allowed analysis and continuous interactions.
It was intended to operate considering the interaction between movements and groups with the institutions, in order to verify dialectics according to their contribution to the general interest, for an improvement of institutions and generative processes of norms
La Conoscenza nel progetto di restauro: un'applicazione sull'architettura dei castelli in Sardegna tra analisi del costruito e storia dei restauri
The restoration project of a good finds its scientific basis during the learning initial phase, which provides information about the condition of the monument and the previous events which had led to the last physiognomy. In relation to the first phase of knowledge, is helpful to edit a methodological protocol that provides valuable tools to plan available resources, both economic and cognitive, in order to achieve the best intervention in relation to the specific context conditions that characterize each protected good. The path of knowledge, functional to the restoration, makes use of different disciplines, each directed to the cases examined. Among these, the stratigraphy of the highs, a discipline inherited from archeology, is able to know in a detailed and accurate manner the material of which the architectural artifact is composed. The latter, in fact, if appropriately investigated in a "direct" way, represents the first document of himself, the most "authentic", the testimony of an important page of history, by definition, unique and unrepeatable. From historical and evolutionary analysis, knowledge is defined, aimed not only at the historical reconstruction of the facts but also at a reading of the architectural, technical and technological features, as well as the identification of alterations to the original structure. For these reasons, the choice on the field of application of this research fell on medieval castellan architecture in Sardinia. These, in fact, built in a defined and circumscribed territorial context, are not immediately over the course of time transformations dictated by a pressing reuse, which still allows today to have highs yet to be read. The study was conducted through three research phases:
1. Construction of the state of the art on castellan architecture in Sardinia: bibliographic and archival research and field survey; technical reading of the wall faces with respect to the sources; methods of construction, materials, construction techniques; current physical condition and state of conservation;
2. Analysis of the archival documentation kept in the archives of the Superintendencies concerning the restorations carried out between the 19th and 20th centuries;
3. Identification of cultural bodies and practice in the exercise of time, more efficient interventions, related problems and outcomes of these operations.
The objective of the present study is to support a critical intervention for critical intervention, I mean a technical and cultural operation, guided by intervention choices that respect the material consistency and aimed at enhancing and recovering the architectural heritage