Media activism on and off line by Italian adolescents and young adults

From several researchers it appears that Italian adolescents and young people are grown up with commercial television which is accused to contain too much violence, sex, reality shows, advertising, cartoons which are watched from 1 to 4 hours daily. Adolescents are also great users of mobile phones and spend a lot of time to use it. Their academic results are below the average of Ocse States. However the widespread use of communication technology and social networks display also another side of adolescents who engage in media activism and political movement such as Ammazzateci tutti!, Indymedia, Movimento 5 Stelle, Movimento No Tav. In which way does the world economic crisis -with the specific problems of Italy as the cutting founds for school, academic research and welfare, the corruption of political class, mafia and camorra organisation induce a reaction in our adolescents and young people? Several researches inform us about their use of internet in terms of spending time but, more important, how internet, and the web 2.0, could be an instrument for their reaction? What do they do online? How they do it? Which is the meaning of their presence online? And, has their online activity a continuity offline? The research aims are: 1. Trough a participant observation of Social Network profiles opened by 10 young active citizens, I would seek to understand which kind of social or political activities they engage in online as individuals and which is the meaning of their presence online. 2. To observe and understand if adolescents and young people have a continuity of their socio-political engagement online in offline activities and which kind of experiences it is. 3. Try to comprehend which was (or which were) the significant, learning experiences that convinced them about the potential of the web as tool for their activism.

Using national FADN database to describe Italian farms and arable fields. A comparison of sustainability level between organic versus conventional regimes.

The study defines a new farm classification and identifies the arable land management. These aspects and several indicators are taken into account to estimate the sustainability level of farms, for organic and conventional regimes. The data source is Italian Farm Account Data Network (RICA) for years 2007-2011, which samples structural and economical information. An environmental data has been added to the previous one to better describe the farm context. The new farm classification describes holding by general informations and farm structure. The general information are: adopted regime and farm location in terms of administrative region, slope and phyto-climatic zone. The farm structures describe the presence of main productive processes and land covers, which are recorded by FADN database. The farms, grouped by homogeneous farm structure or farm typology, are evaluated in terms of sustainability. The farm model MAD has been used to estimate a list of indicators. They describe especially environmental and economical areas of sustainability. Finally arable lands are taken into account to identify arable land managements and crop rotations. Each arable land has been classified by crop pattern. Then crop rotation management has been analysed by spatial and temporal approaches. The analysis reports a high variability inside regimes. The farm structure influences indicators level more than regimes, and it is not always possible to compare the two regimes. However some differences between organic and conventional agriculture have been found. Organic farm structures report different frequency and geographical location than conventional ones. Also different connections among arable lands and farm structures have been identified.

Trait emotional intelligence: Evidence from italian adolescents and adults

Emotional intelligence (EI) represents an attribute of contemporary attractiveness for the scientific psychology community. Of particular interest for the present thesis are the conundrum related to the representation of this construct conceptualized as a trait (i.e., trait EI), which are in turn reflected in the current lack of agreement upon its constituent elements, posing significant challenges to research and clinical progress. Trait EI is defined as an umbrella personality-alike construct reflecting emotion-related dispositions and self-perceptions. The Trait Emotional Intelligence Questionnaire (TEIQue) was chosen as main measure, given its strong theoretical and psychometrical basis, including superior predictive validity when compared to other trait EI measures. Studies 1 and 2 aimed at validating the Italian 153-items forms of the TEIQue devoted to adolescents and adults. Analyses were done to investigate the structure of the questionnaire, its internal consistencies and gender differences at the facets, factor, and global level of both versions. Despite some low reliabilities, results from Studies 1 and 2 confirm the four-factor structure of the TEIQue. Study 3 investigated the utility of trait EI in a sample of adolescents over internalizing conditions (i.e., symptoms of anxiety and depression) and academic performance (grades at math and Italian language/literacy). Beyond trait EI, concurrent effects of demographic variables, higher order personality dimensions and non-verbal cognitive ability were controlled for. Study 4a and Study 4b addressed analogue research questions, through a meta-analysis and new data in on adults. In the latter case, effects of demographics, emotion regulation strategies, and the Big Five were controlled. Overall, these studies showed the incremental utility of the TEIQue in different domains beyond relevant predictors. Analyses performed at the level of the four-TEIQue factors consistently indicated that its predictive effects were mainly due to the factor Well-Being. Findings are discussed with reference to potential implication for theory and practice.

Phylogeny and genetic diversity of Italian species of hares (genus Lepus)

In this study we have analysed the genetic variability in ca. 700 samples belonging to six species of genus Lepus using maternal and biparental molecular markers (mitochondrial DNA, microsatellites, Single Nucleotide Polimorphisms). We aimed to reconstruct the phylogenetic relationships of species of hares living in Europe, and assess the occurrence of hybridization between the European hare Lepus europaeus and the Italian hare Lepus corsicanus. Results showed a deep genetic differentiation and absence of hybridization between L. corsicanus and L. europaeus, confirming that they are distinct and distantly related biological species. In contrast, we showed small genetic distances and a close phylogenetic relationship between the Italian hare and Cantabrian hare L. castroviejoi, which suggest a deeper evaluation of their taxonomic status. Populations of L. corsicanus are geographically differentiated. In particular, the peninsular and Sicilian populations of Italian hares are sharply genetically distinct, which calls for avoiding any translocation between Italy and Sicily. Information on genetic variability and population structure is being used to implement the Italian Action Plan for L. corsicanus.

Harmful algae and their potential impacts on the coastal ecosystem: growth and toxin production dynamics

The main goal of the present thesis was to study some harmful algal species which cause blooms in Italian coastal waters, leading to consequences for human health, coastal ecosystem, fishery and tourism. In particular, in the first part of this thesis the toxicity of Adriatic strains of the raphidophyte Fibrocapsa japonica was investigated. Despite several hypotheses have been proposed for the toxic mechanism of the raphidophytes, especially for the species Chattonella antiqua and C. marina, which have been studied more extensively, just a few studies on the toxic effects of these species for different organisms were reported. Moreover, a careful reading of the literature evidenced as any ichthyotoxic events reported worldwide can be linked to F. japonica blooms. Although recently several studies were performed on F. japonica strains from the USA, Japan, Australia, New Zealand, the Netherlands, Germany, and France in order to characterize their growth and toxicity features, the work reported in this thesis results one of the first investigation on the toxic effects of F. japonica for different organisms, such as bacteria, crustaceans and fish. Mortality effects, together with haemolysis of fish erythrocytes, probably due to the relatively high amount of PUFAs produced by this species, were observed. Mortality for fish, however, was reported only at a high cell density and after a long exposition period (9-10 days); moreover a significant increase of H2O2 obtained in the tanks where sea basses were exposed to F. japonica was also relevant. This result may justify the absence of ichthyotoxic events in the Italian coasts, despite F. japonica blooms detected in these areas were characterized by high cell densities. This work reports also a first complete characterization of the fatty acids produced and extracellularly released by the Adriatic F. japonica, and results were also compared with the fatty acid profile of other strains. The absence of known brevetoxins in F. japonica algal extracts was also highlighted, leading to the hypothesis that the toxicity of F. japonica may be due to a synergic effect of PUFAs and ROS. Another microalgae that was studied in this thesis is the benthic dinoflagellate Ostreopsis cf. ovata. This species was investigated with the aim to investigate the effect of environmental parameters on its growth and toxicity. O. cf. ovata, in fact, shows different blooming periods along the Italian coasts and even the reported toxic effects are variable. The results of this work confirmed the high variability in the growth dynamic and toxin content of several Italian strains which were isolated in recent years along the Adriatic and Tyrrhenian Seas. Moreover, the effects of temperature and salinity on the behaviour of the different isolates are in good agreement with the results obtained from field surveys, which evidence as the environmental parameters are important factors modulating O. cf. ovata proliferation. Another relevant result that was highlighted is the anomaly in the production of palytoxin-like compounds reported by one of the studied isolate, in particular the one isolated in 2008 in Ancona (Adriatic Sea). Only this strain reported the absence of two (ovatoxin-b and –c) of the five ovatoxins so far known in the toxin profile and a different relative abundance of the other toxins. The last aspect that was studied in this thesis regards the toxin biosythesis. In fact, toxins produced (palytoxin-like compounds) or supposed to be produced (brevetoxin-like compounds) by O. cf. ovata and F. japonica, respectively, are polyketides, which are highly oxygenated compounds synthesized by complex enzymes known as polyketide synthase (PKS) enzymes. These enzymes are multi-domain complexes that structurally and functionally resemble the fatty acid synthases (FASs). This work reports the first study of PKS proteins in the dinoflagellates O. cf. ovata, C. monotis and in the raphidophyte F. japonica. For the first time some PKSs were identified in these species, confirming the presence of PKS proteins predicted by the in silico translation of the transcripts found in K. brevis also in other species. The identification of O. cf. ovata PKSs and the localization of the palytoxin-like compounds produced by this dinoflagellate in a similar location (chloroplast) as that observed for other dinoflagellate and cyanobacterial toxins provides some indication that these proteins may be involved in polyketide biosynthesis. However, their potential function as fatty acid synthases cannot be ruled out, as plant fatty acid synthesis also occurs within chloroplasts. This last hypothesis is also supported by the fact that in all the investigated species, and in particular in F. japonica, PKS proteins were present. Therefore, these results provide an important contribution to the study of the polyketides and of the involvement of PKS proteins in the toxin biosynthesis.

Analytical methods for evaluating the quality and the genuineness of olive oils

This Ph.D. thesis focuses on the investigation of some chemical and sensorial analytical parameters linked to the quality and purity of different categories of oils obtained by olives: extra virgin olive oils, both those that are sold in the large retail trade (supermarkets and discounts) and those directly collected at some Italian mills, and lower-quality oils (refined, lampante and “repaso”). Concurrently with the adoption of traditional and well-known analytical procedures such as gas chromatography and high-performance liquid chromatography, I carried out a set-up of innovative, fast and environmentally-friend methods. For example, I developed some analytical approaches based on Fourier transform medium infrared spectroscopy (FT-MIR) and time domain reflectometry (TDR), coupled with a robust chemometric elaboration of the results. I investigated some other freshness and quality markers that are not included in official parameters (in Italian and European regulations): the adoption of such a full chemical and sensorial analytical plan allowed me to obtain interesting information about the degree of quality of the EVOOs, mostly within the Italian market. Here the range of quality of EVOOs resulted very wide, in terms of sensory attributes, price classes and chemical parameters. Thanks to the collaboration with other Italian and foreign research groups, I carried out several applicative studies, especially focusing on the shelf-life of oils obtained by olives and on the effects of thermal stresses on the quality of the products. I also studied some innovative technological treatments, such as the clarification by using inert gases, as an alternative to the traditional filtration. Moreover, during a three-and-a-half months research stay at the University of Applied Sciences in Zurich, I also carried out a study related to the application of statistical methods for the elaboration of sensory results, obtained thanks to the official Swiss Panel and to some consumer tests.

Conservation genetics of European wildcat (Felis silvestris silvestris): a wide and integrating analysis protocol for admixture inferences and population structure

Introgression of domestic cat genes into European wildcat (Felis silvestris silvestris) populations and reduction of wildcats’ range in Europe, leaded by habitat loss and fragmentation, are considered two of the main conservation problems for this endangered feline. This thesis addressed the questions related with the artificial hybridization and populations’ fragmentation, using a conservation genetics perspective. We combined the use of highly polymorphic loci, Bayesian statistical inferences and landscape analyses tools to investigate the origin of the geographic-genetic substructure of European wildcats (Felis silvestris silvestris) in Italy and Europe. The genetic variability of microsatellites evidenced that European wildcat populations currently distributed in Italy differentiated in, and expanded from two distinct glacial refuges during the Last Glacial Maximum. The genetic and geographic substructure detected between the eastern and western sides of the Apennine ridge, resulted by adaptation to specific ecological conditions of the Mediterranean habitats. European wildcat populations in Europe are strongly structured into 5 geographic-genetic macro clusters corresponding to: the Italian peninsular & Sicily; Balkans & north-eastern Italy; Germany eastern; central Europe; and Iberian Peninsula. Central European population might have differentiated in the extra-Mediterranean Würm ice age refuge areas (Northern Alps, Carpathians, and the Bulgarian mountain systems), while the divergence among and within the southern European populations might have resulted by the Pleistocene bio geographical framework of Europe, with three southern refugia localized in the Balkans, Italian Peninsula and Iberia Peninsula. We further combined the use of most informative autosomal SNPs with uniparental markers (mtDNA and Y-linked) for accurately detecting parental genotypes and levels of introgressive hybridization between European wild and domestic cats. A total of 11 hybrids were identified. The presence of domestic mitochondrial haplotypes shared with some wild individuals led us to hypnotize the possibility that ancient introgressive events might have occurred and that further investigation should be recommended.

Micro and Macro essays in Applied Fiscal Policy

This thesis analysis micro and macro aspect of applied fiscal policy issues. The first chapter investigates the extent to which local budget spending composition reacts to fiscal rules variations. I consider the budget of Italian municipalities and exploit specific changes in the Domestic Stability Pact’s rules, to perform a difference-in-discontinuities analysis. The results show that imposing a cap on the total amount of consumption and investment is not as binding as two caps, one for consumption and a different one for investment. More specifically, consumption is triggered by changes in wages and services spending, while investment relies on infrastructure movements. In addition, there is evidence that when an increase in investment is achieved, there is also a higher budget deficit level. The second chapter intends to analyze the extent to which fiscal policy shocks are able to affect macrovariables during business cycle fluctuations, differentiating among three intervention channels: public taxation, consumption and investment. The econometric methodology implemented is a Panel Vector Autoregressive model with a structural characterization. The results show that fiscal shocks have different multipliers in relation to expansion or contraction periods: output does not react during good times while there are significant effects in bad ones. The third chapter evaluates the effects of fiscal policy announcements by the Italian government on the long-term sovereign bond spread of Italy relative to Germany. After collecting data on relevant fiscal policy announcements, we perform an econometric comparative analysis between the three cabinets that followed one another during the period 2009-2013. The results suggest that only fiscal policy announcements made by members of Monti’s cabinet have been effective in influencing significantly the Italian spread in the expected direction, revealing a remarkable credibility gap between Berlusconi’s and Letta’s governments with respect to Monti’s administration.

Essays in Economic Geography and Long-Term Development

This dissertation has two main themes: first, the economic impact of tourism on cities and, secondly, the determinants of European long-run development, with a focus on the pre-Industrial era. The common thread is the attempt to develop economic geography models that incorporate spatial frictions and are liable to be given empirical content. Chapter 1, written in conjunction with G. Alfredo Minerva, provides an empirical analysis of the relationship between tourism and economic activity across Italian municipalities, and lays down the basic elements of an urban theory of tourism in an a-spatial setting. Chapter 2 extends these ideas to a quantitative urban framework to study the economic impact and the welfare consequences of tourism into the city of Venice. The model is given empirical content thanks to a large collection of data at the Census tract level for the Municipality of Venice, and then used to perform counterfactual policty analysis. In chapter 3, with Matteo Santacesaria, we consider a setting where agents are continuously distributed over a two-dimensional heterogeneous geography, and are allowed to do business at a finite set of markets. We study the equilibrium partition of the economic space into a collection of mutually-exclusive market areas, and provide condition for this equilibrium partition to exist and to be unique. Finally, chapter 4 "The rise of (urban) Europe: a Quantitative-Spatial analysis", co-authored with Matteo Cervellati and Alex Lehner, sets up a quantitative economic geography model to understand the roots of the Industrial Revolution, in an attempt to match the evolution of the European urban network, and the corresponding city-size distribution, over the period A.D. 1000-1850. It highlights the importance of agricultural trade across cities for the emergence of large manufacturing hubs.

Insights on epidemiology and control of Marek’s disease through traditional and novel molecular tools

Marek's disease (MD) is a contagious, lymphoproliferative and neuropathic disease of poultry caused by a ubiquitous lymphotropic and oncogenic virus, Gallid alphaherpesvirus 2 (GaHV-2). MD has been reported in all poultry-rearing countries and is among the viral diseases with the highest economic impact in the poultry industry worldwide, including Italy. MD has been also recognized as one of the leading causes of mortality in backyard poultry. The present doctoral thesis aimed at exploring Marek's disease virus molecular epidemiology in Italian commercial and backyard chicken flocks and, for the first time, in commercial turkeys affected by clinical MD. Molecular biology techniques targeting the full-length meq gene, the major GaHV-2 oncogene, were used to detect and characterize the circulating GaHV-2 strains searching for genetic markers of virulence. A final study focused on the development of rapid, sensitive, and species-specific loop-mediated isothermal amplification assays coupled with a lateral flow device readout for the detection of conventional and recombinant HVT-based vaccines is included in the thesis. HVT vaccines, currently used to protect chickens from MD, are referred to as "leaky", as they do not impede the infection, replication, and shedding of field GaHV-2: vaccinal and field viruses can coexist in the vaccinated host and molecular tests able to discriminate between GaHV-2 and HVT are required. These new simple, fast, and accurate tests for the monitoring of MD vaccination success in the field could be greatly beneficial for field veterinarians, small laboratories, and more broadly for resource-limited settings.

Emotions in legal decisions: the construction of objective narratives in Italian criminal trials

Drawing on ethnographic data collected in Italian courts and prosecution offices, this dissertation offers new perspectives on legal decision-making by highlighting the importance of emotions for constructing and evaluating legal narratives. Focusing on criminal cases, it describes and dissects how judges and prosecutors use emotions in reflection and action tied to lay narratives and legal constraints. The analysis shows that legal professionals engage in different types of emotional dynamics when dealing with stories; first, they develop gut feelings, which are either endorsed or kept at distance by means of emotional reflexivity, to comply with legal ideals of objectivity and impartiality. Second, empathy emerges as a crucial tool to direct the interaction with lay people and to interpret legal prerequisites, such as credibility, and intent. Finally, the dissertation shows that lay stories lead legal professionals to become passionate and committed towards the correct application of the law, the restoration of the moral order, and the achievement of justice. In light of the empirical findings, this thesis strives to develop a theoretical understanding of legal decision-making as narrative work that includes emotional dynamics consistent with rational, objective action.

Il cinema in missione. La pratica cinematografica dei missionari italiani lungo il XX secolo tra apostolato e antropologia

The thesis reconstructs the cinema’s experience of Italian missionaries during the XX century in a historical-pragmatic key. Italian missionaries, who started producing movies around the Twenties, have used cinema as a helpful instrument for religious propaganda. They have considered the rules of the Catholic Church, the political and social context and the audience’s expectations. Each chapter (1-4) analyses the phenomenon inside the context constituted by the Italian colonial experiences, the relationship between Catholic Church and images during the Evangelization, the history of cinema and the history of missions. A specific chapter (chapter 5) is dedicated to the archives of missionary’s cinema and to the value to be assigned to this film production (in terms of social memory and archive’s memory). At the end of the first part, the thesis presents a proposal about the relationship between missionary’s cinema and visual anthropology. The second part of the thesis includes the film cards of the missionary’s movies preserved in Italy: 339 cards of Italian movies and 149 cards of foreign movies placed in different archives and bureaus.

Effetti degli accordi Euro-Mediterrani sul comparto dell'ortofrutta fresca

In 1995, the European Union (EU) Member States and 12 Mediterranean countries launched in Barcelona a liberalization process that aims at establishing a free trade area (to be realized by 2010) and at promoting a sustainable and balanced economic development by the adoption of a new generation of Agreements: the Euro-Mediterranean Agreements (EMA). For the Mediterranean partner countries, the main concern is a better access for their fruit and vegetable exports to the European market. These products represent the main exports of these countries, and the EU is their first trading partner. On the other side, for the EU the main issue is not only the promotion of its products, but also the protection of its fruit and vegetables producers. Moreover, the trade with third countries is the key element of the Common Market Organization of the sector. Fruit and vegetables represent a very sensitive sector since their high seasonality, high perishability, and especially since the production of the Mediterranean countries is often similar to the European Mediterranean’s countries one. In fact, the agreements define preferences at the entrance of the EU market providing limited concessions for each partner, for specific products, limited quantities and calendars. This research tries to analyze the bilateral trade volume for fresh fruit and vegetables in the European and Italian markets in order to assess the effects of Mediterranean liberalization on this sector. Free trade of agricultural products represents a very actual topic in international trade and the Mediterranean countries, recognised as big producers of fruit and vegetables, as big exporters of their crops and actually significantly present on the European market, could be high competitors with the inward production because the outlet could be the same. The goal of this study is to provide some considerations about the competitiveness of mediterranean fruit and vegetables productions after Barcelona Process, in a first step for the European market and then also for the Italian one. The aim is to discuss the influence of the euro-mediterranean agreements on the fruit and vegetables trade between 10 foreign Mediterranean countries (Algeria, Egypt, Israel, Jordan, Libya, Lebanon, Morocco, Tunisia, Syria, and Turkey) and 15 EU countries in the period 1995-2007, by means of a gravity model, which is a widespread methodology in international trade analysis. The basic idea of gravity models is that bilateral trade from one country to another (as the dependent variable) can be explained by a set of factors: - factors that capture the potential of a country to export goods and services; - factors that capture the propensity of a country to imports goods and services; - any other forces that either attract or inhibit bilateral trade. This analysis compares only imports’ flows by Europe and by Italy (in volumes) from Mediterranean countries, since the exports’ flows toward those foreign countries are not significant, especially for Italy. The market of fruit and vegetables appears as a high heterogeneous group so it is very difficult to show a synthesis of the analysis performed and the related results. In fact, this sector includes the so called “poor products” (such as potatoes and legumes), and the “rich product”, such as nuts or exotic fruit, and there are a lot of different goods that arouse a dissimilar consumer demand which directly influence the import requirements. Fruit and vegetables sector includes products with extremely different biological cycles, leading to a very unlike seasonality. Moreover, the Mediterranean area appears as a highly heterogeneous bloc, including countries which differ from the others for economic size, production potential, capability to export and for the relationships with the EU. The econometric estimation includes 68 analyses, 34 of which considering the European import and 34 the Italian import and the products are examined in their aggregated form and in their disaggregated level. The analysis obtains a very high R2 coefficient, which means that the methodology is able to assess the import effects on fruit and vegetables associated to the Association Agreements, preferential tariffs, regional integration, and others information involved in the equation. The empirical analysis suggests that fruits and vegetables trade flows are well explained by some parameters: size of the involved countries (especially GDP and population of the Mediterranean countries); distances; prices of imported products; local production for the aggregated products; preferential expressed tariffs like duty free; sub-regional agreements that enforce the export capability. The euro-mediterranean agreements are significant in some of the performed analysis, confirming the slow and gradual evolution of euro- Mediterranean liberalization. The euro-mediterranean liberalization provides opportunities from one side, and imposes a new important challenge from the other side. For the EU the chance is that fruit and vegetables imported from the mediterranean area represent a support for local supply and a possibility to increase the range of products existing on the market. The challenge regards the competition of foreign products with the local ones since the types of productions are similar and markets coincide, especially in the Italian issue. We need to apply a strategy based not on a trade antagonism, but on the realization of a common plane market with the Mediterranean countries. This goal could be achieved enhancing the industrial cooperation in addition to commercial relationships, and increasing investments’ flows in the Mediterranean countries aiming at transforming those countries from potential competitors to trade partners and creating new commercial policies to export towards extra European countries.

Genetica molecolare dell'autismo: studi di associazione ed analisi di geni candidati

Autism is a neurodevelpmental disorder characterized by impaired verbal communication, limited reciprocal social interaction, restricted interests and repetitive behaviours. Twin and family studies indicate a large genetic contribution to ASDs (Autism Spectrum Disorders). During my Ph.D. I have been involved in several projects in which I used different genetic approaches in order to identify susceptibility genes in autism on chromosomes 2, 7 and X: 1)High-density SNP association and CNV analysis of two Autism Susceptibility Loci. The International Molecular Genetic Study of Autism Consortium (IMGSAC) previously identified linkage loci on chromosomes 7 and 2, termed AUTS1 and AUTS5, respectively. In this study, we evaluated the patterns of linkage disequilibrium (LD) and the distribution of haplotype blocks, utilising data from the HapMap project, across the two strongest peaks of linkage on chromosome 2 and 7. More than 3000 SNPs have been selected in each locus in all known genes, as well as SNPs in non-genic highly conserved sequences. All markers have been genotyped to perform a high-density association analysis and to explore copy number variation within these regions. The study sample consisted of 127 and 126 multiplex families, showing linkage to the AUTS1 and AUTS5 regions, respectively, and 188 gender-matched controls. Association and CNV analysis implicated several new genes, including IMMP2L and DOCK4 on chromosome 7 and ZNF533 and NOSTRIN on the chromosome 2. Particularly, my contribution to this project focused on the characterization of the best candidate gene in each locus: On the AUTS5 locus I carried out a transcript study of ZNF533 in different human tissues to verify which isoforms and start exons were expressed. High transcript variability and a new exon, never described before, has been identified in this analysis. Furthermore, I selected 31 probands for the risk haplotype and performed a mutation screen of all known exons in order to identify novel coding variants associated to autism. On the AUTS1 locus a duplication was detected in one multiplex family that was transmitted from father to an affected son. This duplication interrupts two genes: IMMP2L and DOCK4 and warranted further analysis. Thus, I performed a screening of the cohort of IMGSAC collection (285 multiplex families), using a QMPSF assay (Quantitative Multiplex PCR of Short fluorescent Fragments) to analyse if CNVs in this genic region segregate with autism phenotype and compare their frequency with a sample of 475 UK controls. Evidence for a role of DOCK4 in autism susceptibility was supported by independent replication of association at rs2217262 and the finding of a deletion segregating in a sib-pair family. 2)Analysis of X chromosome inactivation. Skewed X chromosome inactivation (XCI) is observed in females carrying gene mutations involved in several X-linked syndromes. We aimed to estimate the role of X-linked genes in ASD susceptibility by ascertaining the XCI pattern in a sample of 543 informative mothers of children with ASD and in a sample of 164 affected girls. The study sample included families from different european consortia. I analysed the XCI inactivation pattern in a sample of italian mothers from singletons families with ASD and also a control groups (144 adult females and 40 young females). We observed no significant excess of skewed XCI in families with ASD. Interestingly, two mothers and one girl carrying known mutations in X-linked genes (NLGN3, ATRX, MECP2) showed highly skewed XCI, suggesting that ascertainment of XCI could reveal families with X-linked mutations. Linkage analysis was carried out in the subgroup of multiplex families with skewed XCI (≥80:20) and a modest increased allele sharing was obtained in the Xq27-Xq28 region, with a peak Z score of 1.75 close to rs719489. In this region FMR1 and MECP2 have been associated in some cases with austim and therefore represent candidates for the disorder. I performed a mutation screen of MECP2 in 33 unrelated probands from IMGSAC and italian families, showing XCI skewness. Recently, Xq28 duplications including MECP2, have been identified in families with MR, with asymptomatic carrier females showing extreme (>85%) skewing of XCI. For these reason I used the sample of probands from X-skewed families to perform CNV analysis by Real-time quantitative PCR. No duplications have been found in our sample. I have also confirmed all data using as alternative method the MLPA assay (Multiplex Ligation dependent Probe Amplification). 3)ASMT as functional candidate gene for autism. Recently, a possible involvement of the acetylserotonin O-methyltransferase (ASMT) gene in susceptibility to ASDs has been reported: mutation screening of the ASMT gene in 250 individuals from the PARIS collection revealed several rare variants with a likely functional role; Moreover, significant association was reported for two SNPs (rs4446909 and rs5989681) located in one of the two alternative promoters of the gene. To further investigate these findings, I carried out a replication study using a sample of 263 affected individuals from the IMGSAC collection and 390 control individuals. Several rare mutations were identified, including the splice site mutation IVS5+2T>C and the L326F substitution previously reported by Melke et al (2007), but the same rare variants have been found also in control individuals in our study. Interestingly, a new R319X stop mutation was found in a single autism proband of Italian origin and is absent from the entire control sample. Furthermore, no replication has been found in our case-control study typing the SNPs on the ASMT promoter B.

Politiche di sviluppo e questione etnica. La cooperazione italiana IN Bosnia Erzegovina

The globalization process of the last twenty years has changed the world through international flows of people, policies and practices. International cooperation to development is a part of that process and brought International Organizations (IOs) and Non Governmental Organizations (NGOs) from the West to the rest of the world. In my thesis I analyze the Italian NGOs that worked in Bosnia Herzegovina (BH) to understand which development projects they realized and how they faced the ethnic issue that characterized BH. I consider the relation shaped between Italian NGOs and Bosnian civil society as an object of ethnic interests. In BH, once part of former Yugoslavia, the transition from the communist regime to a democratic country has not been completed. BH’s social conditions are characterized by strong ethnic divisions. The legacy of the early 1990s crisis was a phenomenon of ethnic identities created before the war and that still endure today. The Dayton Peace Agreement signed in 1995 granted the peace and reinforced the inter-ethnic hate between the newly recognized three principal ethnicities: Serbs, Croats and Bosniak. Through the new constitution, the institutions were characterized by division at every level, from the top to the bottom of society. Besides it was the first constitution ever written and signed outside the own country; that was the root of the state of exception that characterized BH. Thus ethnic identities culture survived through the international political involvement. At the same time ethnic groups that dominated the political debate clashed with the international organization’s democratic purpose to build a multicultural and democratic state. Ethnic and also religious differences were the instruments for a national statement that might cause the transition and development projects failure. Fifteen years later social fragmentation was still present and it established an atmosphere of daily cultural violence. Civil society suffered this condition and attended to recreate the ethnic fragmentation in every day life. Some cities became physically divided and other cities don’t tolerated the minority presence. In rural areas, the division was more explicit, from village to village, without integration. In my speech, the anthropology for development – the derivative study from applied anthropology – constitutes the point of view that I used to understand how ethnic identities still influenced the development process in BH. I done ethnographic research about the Italian cooperation for development projects that were working there in 2007. The target of research were the Italian NGOs that created a relation with Bosnian civil society; they were almost twenty divided in four main field of competences: institutional building, education, agriculture and democratization. I assumed that NGOs work needed a deep study because the bottom of society is the place where people could really change their representation and behavior. Italian NGOs operated in BH with the aim of creating sustainable development. They found cultural barricade that both institutions and civil society erected when development projects have been applied. Ethnic and religious differences were stressed to maintain boundaries and fragmented power. Thus NGOs tried to negotiate development projects by social integration. I found that NGOs worked among ethnic groups by pursuing a new integration. They often gained success among people; civil society was ready to accept development projects and overcome differences. On the other hand NGOs have been limited by political level that sustained the ethnic talk and by their representation of Bosnian issue. Thus development policies have been impeded by ethnic issue and by cooperation practices established on a top down perspective. Paradoxically, since international community has approved the political ethnic division within DPA, then the willing of development followed by funding NGOs cooperation projects was not completely successful.