The role of medial parieto occipital cortex in visuospatial attention and reach planning: electrophysiological studies in human and non-human primates

We usually perform actions in a dynamic environment and changes in the location of a target for an upcoming action require both covert shifts of attention and motor planning update. In this study we tested whether, similarly to oculomotor areas that provide signals for overt and covert attention shifts, covert attention shifts modulate activity in cortical area V6A, which provides a bridge between visual signals and arm-motor control. We performed single cell recordings in monkeys trained to fixate straight-ahead while shifting attention outward to a peripheral cue and inward again to the fixation point. We found that neurons in V6A are influenced by spatial attention demonstrating that visual, motor, and attentional responses can occur in combination in single neurons of V6A. This modulation in an area primarily involved in visuo-motor transformation for reaching suggests that also reach-related regions could directly contribute in the shifts of spatial attention necessary to plan and control goal-directed arm movements. Moreover, to test whether V6A is causally involved in these processes, we have performed a human study using on-line repetitive transcranial magnetic stimulation over the putative human V6A (pV6A) during an attention and a reaching task requiring covert shifts of attention and reaching movements towards cued targets in space. We demonstrate that the pV6A is causally involved in attention reorienting to target detection and that this process interferes with the execution of reaching movements towards unattended targets. The current findings suggest the direct involvement of the action-related dorso-medial visual stream in attentional processes, and a more specific role of V6A in attention reorienting. Therefore, we propose that attention signals are used by the V6A to rapidly update the current motor plan or the ongoing action when a behaviorally relevant object unexpectedly appears at an unattended location.

Società di capitali amministratrici di società di persone

The present work focuses on a specific aspect of the general issue concerning the possible consequences of the reform of business corporations (“società di capitali”) on the discipline of partnerships (“società di persone”). After the reform of business law enacted with legislative decree n. 6/2003, the majority of the literature, in the light of the provisions of art. 2361 co. 2 civil code and art. 111-duodecies of the regulatory provisions (“disposizioni di attuazione”) of the civil code itself, maintains the possibility for a business corporation to be executive of a partnership. As a matter of fact, whenever all the members of a partnership are actually business corporations, it shall be possible that either one of the latter becomes the executive, either such role is played by a third party, i. e. a non-partner. After displaying the possible advantages and disadvantages stemming from a business corporation managing a partnership, the analysis investigates the legal feasibility of the case in point. First of all, the reasons supporting the theory under which a legal person cannot be manager of a partnership are examined in depth; an overview of the principal EU Member States’ legal systems and of the discipline of the European Economic Interest Grouping and of European Corporate is then provider for. At the outset of such analysis, the author asserts the legal possibility for a legal person to act as manager of a corporation, including a partnership. Afterwards, the investigation covers the issue of the executive-member in the partnerships. Initially, an overview of the literature concerning the legal nature of the management is offered; then, the three different categories of partnership are analyzed, in order to understand whether such legal persons can be managed by a third party (i.e. a non-member). On the basis of the existing strict connection between executive powers and unlimited liability, the author concludes that only the members shall be manager of the partnerships. Another chapter of the thesis is centred, from the one hand, on the textual data that, after the reform of 2003, support the aforesaid conclusion; from the other hand, on the peculiar features of the corporate business that is executive of a partnership. In particular, the attention is focused on the necessity or on the mere opportunity of an article of association explicitly providing that a corporate business can be executive of the partnership; on the practical ways by which the former shall manage the latter (especially on the necessity of nominating a permanent representative of the legal person and on the possibility to designate the procurators to this end); on the disclosure obligations applicable to the case in point.

AI and legal personhood: a theoretical survey

I set out the pros and cons of conferring legal personhood on artificial intelligence systems (AIs), mainly under civil law. I provide functionalist arguments to justify this policy choice and identify the content that such a legal status might have. Although personhood entails holding one or more legal positions, I will focus on the distribution of liabilities arising from unpredictably illegal and harmful conduct. Conferring personhood on AIs might efficiently allocate risks and social costs, ensuring protection for victims, incentives for production, and technological innovation. I also consider other legal positions, e.g., the capacity to act, the ability to hold property, make contracts, and sue (and be sued). However, I contend that even assuming that conferring personhood on AIs finds widespread consensus, its implementation requires solving a coordination problem, determined by three asymmetries: technological, intra-legal systems, and inter-legal systems. I address the coordination problem through conceptual analysis and metaphysical explanation. I first frame legal personhood as a node of inferential links between factual preconditions and legal effects. Yet, this inferentialist reading does not account for the ‘background reasons’, i.e., it does not explain why we group divergent situations under legal personality and how extra-legal information is integrated into it. One way to account for this background is to adopt a neo-institutional perspective and update its ontology of legal concepts with further layers: the meta-institutional and the intermediate. Under this reading, the semantic referent of legal concepts is institutional reality. So, I use notions of analytical metaphysics, such as grounding and anchoring, to explain the origins and constituent elements of legal personality as an institutional kind. Finally, I show that the integration of conceptual and metaphysical analysis can provide the toolkit for finding an equilibrium around the legal-policy choices that are involved in including (or not including) AIs among legal persons.

L'epatite E nei suidi: epidemiologia, diagnosi e filogenesi

Hepatitis E is an infectious viral disease with clinical and morphological features of acute hepatitis. The aetiological agent is the Hepatitis E virus (HEV). The disease represents an important Public Health problem in developing countries where is frequently epidemic and primarily transmitted by fecal-oral route. In the last few years, a certain number of sporadic cases have been also described in industrialized countries, Italy included. A swine HEV was first identified in 1997 and is now considered an ubiquitous virus. Human and swine strains from the same geographical region have shown to have a high level of nucleotidic omology and in experimental infections, the possibility of interspecific transmission of swine strains to humans and of human strains to non-human primates has been demonstrated. Furthermore, some seroepidemiological studies have demonstrated that people working in contact with swine have a higher risk to get infected than normal blood donors. Recently, cases of HEV hepatitis have been directly associated to the ingestion of uncooked tissues from pigs, wild boar or deer and today the disease is considered an emerging zoonosis. The aims of this thesis were: evaluate HEV prevalence in Italian swine herds (both in fattening and in breeding animals); investigate the possibility of finding HEV in livers used for human consumption; investigate if there is any correlation between HEV infection and the presence of macroscopical lesions; investigate HEV prevalence in a demographic managed wild boar population; phylogenetically analyse viral strains identified. During an internship period at Veterinary Laboratories Agency (Weybridge, UK), furthermore, swine samples at different stages of production and slurry lagoons have been analysed. Six swine herds located in North Italy have been sampled at different stage of production. The overall prevalence resulted 42%, and both breeding and fattening animals were positive for HEV infection. A longitudinal study has been conducted in a herd across all stages of production until the slaughtering age. Livers have been collected from the animals at the abattoir and 11.8% of them were positive for HEV infection. No correlations have been identified between HEV infection and macroscopical lesions in pigs affected by different pathological conditions. Of 86 wild boars tested 22 (25%) were positive for HEV. Of the swine tested in UK 21,5 % and 2 of the 9 slurry lagoons (22,2%) were positive for HEV infection. All the strains identified belonged to genotype 3 and showed high percentages of nucleotidic identity with humans and swine strains identified in Europe. The high prevalence detected in these studies confirms the widespread diffusion of HEV in swine populations in Italy and in UK. Phylogenetical analysis of identified strains, similar to those identified in autochthonous human hepatitis E cases of the same geographical area, confirm the hypothesis that pigs can be a font of zoonotical infection. The finding that a fraction of the livers inserted in the food chain are positive for HEV infection it’s of some concern for Public Health. The finding of a high HEV prevalence in all examined farms, together with the observation that infection may be sub-clinical and affect animals at slaughtering age, raise concern because of the possible risk of transmission of HEV to humans by either direct contact with infected pigs, indirect contact with environment and working instruments contaminated with pig feces, or ingestion of contaminated undercooked meat.

Effects of environmental complexity on neurogenesis in the hippocampal dentate gyrus

Introduction. Postnatal neurogenesis in the hippocampal dentate gyrus, can be modulated by numerous determinants, such as hormones, transmitters and stress. Among the factors positively interfering with neurogenesis, the complexity of the environment appears to play a particularly striking role. Adult mice reared in an enriched environment produce more neurons and exhibit better performance in hippocampus-specific learning tasks. While the effects of complex environments on hippocampal neurogenesis are well documented, there is a lack of information on the effects of living under socio-sensory deprivation conditions. Due to the immaturity of rats and mice at birth, studies dealing with the effects of environmental enrichment on hippocampal neurogenesis were carried out in adult animals, i.e. during a period of relatively low rate of neurogenesis. The impact of environment is likely to be more dramatic during the first postnatal weeks, because at this time granule cell production is remarkably higher than at later phases of development. The aim of the present research was to clarify whether and to what extent isolated or enriched rearing conditions affect hippocampal neurogenesis during the early postnatal period, a time window characterized by a high rate of precursor proliferation and to elucidate the mechanisms underlying these effects. The experimental model chosen for this research was the guinea pig, a precocious rodent, which, at 4-5 days of age can be independent from maternal care. Experimental design. Animals were assigned to a standard (control), an isolated, or an enriched environment a few days after birth (P5-P6). On P14-P17 animals received one daily bromodeoxyuridine (BrdU) injection, to label dividing cells, and were sacrificed either on P18, to evaluate cell proliferation or on P45, to evaluate cell survival and differentiation. Methods. Brain sections were processed for BrdU immunhistochemistry, to quantify the new born and surviving cells. The phenotype of the surviving cells was examined by means of confocal microscopy and immunofluorescent double-labeling for BrdU and either a marker of neurons (NeuN) or a marker of astrocytes (GFAP). Apoptotic cell death was examined with the TUNEL method. Serial sections were processed for immunohistochemistry for i) vimentin, a marker of radial glial cells, ii) BDNF (brain-derived neurotrofic factor), a neurotrophin involved in neuron proliferation/survival, iii) PSA-NCAM (the polysialylated form of the neural cell adhesion molecule), a molecule associated with neuronal migration. Total granule cell number in the dentate gyrus was evaluated by stereological methods, in Nissl-stained sections. Results. Effects of isolation. In P18 isolated animals we found a reduced cell proliferation (-35%) compared to controls and a lower expression of BDNF. Though in absolute terms P45 isolated animals had less surviving cells than controls, they showed no differences in survival rate and phenotype percent distribution compared to controls. Evaluation of the absolute number of surviving cells of each phenotype showed that isolated animals had a reduced number of cells with neuronal phenotype than controls. Looking at the location of the new neurons, we found that while in control animals 76% of them had migrated to the granule cell layer, in isolated animals only 55% of the new neurons had reached this layer. Examination of radial glia cells of P18 and P45 animals by vimentin immunohistochemistry showed that in isolated animals radial glia cells were reduced in density and had less and shorter processes. Granule cell count revealed that isolated animals had less granule cells than controls (-32% at P18 and -42% at P45). Effects of enrichment. In P18 enriched animals there was an increase in cell proliferation (+26%) compared to controls and a higher expression of BDNF. Though in both groups there was a decline in the number of BrdU-positive cells by P45, enriched animals had more surviving cells (+63) and a higher survival rate than controls. No differences were found between control and enriched animals in phenotype percent distribution. Evaluation of the absolute number of cells of each phenotype showed that enriched animals had a larger number of cells of each phenotype than controls. Looking at the location of cells of each phenotype we found that enriched animals had more new neurons in the granule cell layer and more astrocytes and cells with undetermined phenotype in the hilus. Enriched animals had a higher expression of PSA-NCAM in the granule cell layer and hilus Vimentin immunohistochemistry showed that in enriched animals radial glia cells were more numerous and had more processes.. Granule cell count revealed that enriched animals had more granule cells than controls (+37% at P18 and +31% at P45). Discussion. Results show that isolation rearing reduces hippocampal cell proliferation but does not affect cell survival, while enriched rearing increases both cell proliferation and cell survival. Changes in the expression of BDNF are likely to contribute to he effects of environment on precursor cell proliferation. The reduction and increase in final number of granule neurons in isolated and enriched animals, respectively, are attributable to the effects of environment on cell proliferation and survival and not to changes in the differentiation program. As radial glia cells play a pivotal role in neuron guidance to the granule cell layer, the reduced number of radial glia cells in isolated animals and the increased number in enriched animals suggests that the size of radial glia population may change dynamically, in order to match changes in neuron production. The high PSA-NCAM expression in enriched animals may concur to favor the survival of the new neurons by facilitating their migration to the granule cell layer. Conclusions. By using a precocious rodent we could demonstrate that isolated/enriched rearing conditions, at a time window during which intense granule cell proliferation takes place, lead to a notable decrease/increase of total granule cell number. The time-course and magnitude of postnatal granule cell production in guinea pigs are more similar to the human and non-human primate condition than in rats and mice. Translation of current data to humans would imply that exposure of children to environments poor/rich of stimuli may have a notably large impact on dentate neurogenesis and, very likely, on hippocampus dependent memory functions.

Eterogeneità delle proprietà fisico – chimiche della proteina prionica patologica e variabilità fenotipica ceppo specifica nella malattia di Creutzfeldt – Jakob

Transmissible spongiform encephalopathies (TSEs), or prion diseases, are neurodegenerative disorders that affect humans and mammals. Creutzfeldt-Jakob disease (CJD), the most common TSE in humans, can be sporadic (sCJD), genetic (gCJD), or acquired by infection. All TSEs are characterised by the accumulation of PrPSc, a misfolded form of the cellular protein PrPC. PrPSc is insoluble in detergents, partially resistant to proteolysis and shows a highly enriched β-sheet secondary structure. Six clinico-pathological phenotypes of sCJD have been characterized which correlate at the molecular level with two types (1 or 2) of PrPSc with distinctive physicochemical properties and the genotype at the polymorphic (methionine or valine) codon 129 of the prion protein gene. According to the protein-only hypothesis, which postulates that prions are composed exclusively of PrPSc, the strains of prions that are largely responsible for the wide spectrum of TSE phenotypes are enciphered in PrPSc conformation. In support to this view, studies mainly conducted in experimental scrapie, have shown that several prion strains can be identified based on distinguishing PrPSc biochemical properties. To further contribute to the understanding of the molecular basis of strains and to develop more sensitive strain typing assays in humans we have analyzed PrPSc biochemical properties in two experimental setting. In the first we compared the size of the core after protease digestion and the glycoform pattern of PrPSc before and after transmission of human prions to non human primates or bank voles, whereas in the second we analyzed the conformational stability of PrPSc associated with sCJD, vCJD or fCJD using guanidine hydrochloride (GdnHCl) as denaturant. Combining the results of the two studies, we were able to distinguish five human strains for at least one biochemical property. The present data extend our knowledge about the extent of strain variation and its relationship with PrPSc properties in human TSEs.

Interpreting Judgements using Knowledge Representation Methods and Computational Models of Argument

The goal of the present research is to define a Semantic Web framework for precedent modelling, by using knowledge extracted from text, metadata, and rules, while maintaining a strong text-to-knowledge morphism between legal text and legal concepts, in order to fill the gap between legal document and its semantics. The framework is composed of four different models that make use of standard languages from the Semantic Web stack of technologies: a document metadata structure, modelling the main parts of a judgement, and creating a bridge between a text and its semantic annotations of legal concepts; a legal core ontology, modelling abstract legal concepts and institutions contained in a rule of law; a legal domain ontology, modelling the main legal concepts in a specific domain concerned by case-law; an argumentation system, modelling the structure of argumentation. The input to the framework includes metadata associated with judicial concepts, and an ontology library representing the structure of case-law. The research relies on the previous efforts of the community in the field of legal knowledge representation and rule interchange for applications in the legal domain, in order to apply the theory to a set of real legal documents, stressing the OWL axioms definitions as much as possible in order to enable them to provide a semantically powerful representation of the legal document and a solid ground for an argumentation system using a defeasible subset of predicate logics. It appears that some new features of OWL2 unlock useful reasoning features for legal knowledge, especially if combined with defeasible rules and argumentation schemes. The main task is thus to formalize legal concepts and argumentation patterns contained in a judgement, with the following requirement: to check, validate and reuse the discourse of a judge - and the argumentation he produces - as expressed by the judicial text.

Visual-somatosensory interactions in mental representations of the body and the face

The body is represented in the brain at levels that incorporate multisensory information. This thesis focused on interactions between vision and cutaneous sensations (i.e., touch and pain). Experiment 1 revealed that there are partially dissociable pathways for visual enhancement of touch (VET) depending upon whether one sees one’s own body or the body of another person. This indicates that VET, a seeming low-level effect on spatial tactile acuity, is actually sensitive to body identity. Experiments 2-4 explored the effect of viewing one’s own body on pain perception. They demonstrated that viewing the body biases pain intensity judgments irrespective of actual stimulus intensity, and, more importantly, reduces the discriminative capacities of the nociceptive pathway encoding noxious stimulus intensity. The latter effect only occurs if the pain-inducing event itself is not visible, suggesting that viewing the body alone and viewing a stimulus event on the body have distinct effects on cutaneous sensations. Experiment 5 replicated an enhancement of visual remapping of touch (VRT) when viewing fearful human faces being touched, and further demonstrated that VRT does not occur for observed touch on non-human faces, even fearful ones. This suggests that the facial expressions of non-human animals may not be simulated within the somatosensory system of the human observer in the same way that the facial expressions of other humans are. Finally, Experiment 6 examined the enfacement illusion, in which synchronous visuo-tactile inputs cause another’s face to be assimilated into the mental self-face representation. The strength of enfacement was not affected by the other’s facial expression, supporting an asymmetric relationship between processing of facial identity and facial expressions. Together, these studies indicate that multisensory representations of the body in the brain link low-level perceptual processes with the perception of emotional cues and body/face identity, and interact in complex ways depending upon contextual factors.

Skeletal variability of the fibular ends and evolutionary implications

This thesis investigates the morphological variations of fibular extremities in humans and non-human hominids using a 3D Geometric Morphometric approach. The study has three objectives: (1) to assess the shape, form, and size variations of fibular epiphyses within the human species, highlighting sexually dimorphic features; (2) to explore interpopulation variability of fibular extremities from the Upper Paleolithic to the 20th century, comparing subsistence, mobility, and lifestyles; and (3) to examine interspecific variations in fibular ends, testing potential associations with locomotor and positional behavior among extant hominid taxa. In terms of intraspecific variations, sex-related differences in fibular form and size were observed, suggesting distinct functional requirements for the lower limb between sexes. Interpopulation variations revealed a decline in activity level over time, influenced by terrain and footwear use. Hunter-gatherer groups exhibited greater joint mobility, loading, and range of motion compared to sedentary pre- and post-industrial populations. Interspecific variations demonstrated significant morphological differences among hominid taxa, indicating functional implications related to both phylogeny and specific loading patterns on the lower limb. The study identified features indicative of bipedalism in humans, as well as shared characteristics among non-human great apes. Furthermore, distinguishing features were found between Asian and African apes, along with unique morphological signals associated with distinct positional behavior in each hominid taxa. By comprehensively analyzing fibular morphology, this research sheds light on the importance of this bone in knee support, ankle stabilization, and overall locomotor function. The findings contribute to our understanding of the evolutionary and functional aspects of the fibula across human populations and non-human hominids throughout history.

Neo-commodification of persons: exploitation of personal data and impact on the sharing economy

The notion of commodification is a fascinating one. It entails many facets, ranging from subjective debates on desirability of commodification to in depth economic analyses of objects of value and their corresponding markets. Commodity theory is therefore not just defined by a single debate, but spans a plethora of different discussions. This thesis maps and situates those theories and debates and selects one specific strain to investigate further. This thesis argues that commodity theory in its optima forma deals with the investigation into what sets commodities apart from non-commodities. It proceeds to examine the many given answers to this question by scholars ranging from the mid 1800’s to the late 2000’s. Ultimately, commodification is defined as a process in which an object becomes an element of the total wealth of societies in which the capitalist mode of production prevails. In doing so, objects must meet observables, or indicia, of commodification provided by commodity theories. Problems arise when objects are clearly part of the total wealth in societies without meeting established commodity indicia. In such cases, objects are part of the total wealth of a society without counting as a commodity. This thesis examines this phenomenon in relation to the novel commodities of audiences and data. It explains how these non-commodities (according to classical theories) are still essential elements of industry. The thesis then takes a deep dive into commodity theory using the theory on the construction of social reality by John Searle.

Minori rumeni tra percorsi migratori e rappresentazioni. Nè soli, nè accompagnati a Bologna

The thesis deals with the heterogenous category of the “unaccompanied minors”, concentrating the scientific work on those who migrate from Romania to the Italian city of Bologna. Between different migratory routes that include Romanian minors, I chose to explore the ones linked with the underground and illegal contexts. In order to analyse the reasons and the morphology of their migratory career, I used the multisituated field research which allowed me to consider the social policies in both the Romanian and the Italian environment. The main debate on the situation of the “unaccompanied children” refers to the extent to which these minors leave their country of origin “accompanied” by different adult figures and it also involves the role played by these adults. The first chapter is dedicated to a brief theoretical and methodological introduction to the main arguments of the thesis such as Romanian migration to Italy, trafficking in human beings, transnationality of migrant’s migration and decentered cooperation as a means of contrasting illegal migration and trafficking. Each field of research is characterized by a specific methodological approach, but they are all linked by the anthropological perspective I adopted throughout the entire work. The Romanian context, analized from a diachronic and a synchronic perspective represents the object of the second chapter. Some aspects of the Regime policies and other characteristics of the Romanian poscomunist period of “transition” are useful frameworks that become a background of the migration flows outside the country. The third chapter focuses on the Romanian patterns of migration. The reconstruction of some past attitudes that Romanians adopted towards migration are relevant in order to reveal the continuity with the present migratory practices. A consistent part is dedicated to a concrete example based on a field research in Bologna on a group of Romanian roma migrating from the south of Romania. The contact with these persons opened a debate on the limits between legal and illegal migration practices among the Romanians. The conclusion is that minors’ migration to Italy follows the adult patterns and flows. The nucleus of the field researches is included in the fourth and the fifth chapter. Before presenting the settings and the itineraries of the field researches, some deconstructive reflections are made on the representations that common sense and social sciences create on concepts as “child”, “minor” and “childhood”. A first perspective on the Romanian migrant minors emerges from a research concentrated on a group of roma teenagers engaged in Bologna in activities like windscreen washing, pocket-picking, begging and street prostitution. The aim of the research was to gain access to their daily life, to observe their relationship with the adults who “accompany” them and the strategies they activate in order to take some material profit out of their migratory experience. A parallel field research focuses on the Romanian minors who are part of the roma group coming from the south of Romania. Most of them are reunited with their family in Bologna, but according to the Italian law, they are all living as illegal migrants. Others are only temporary sheltered by these families and they meanwhile dedicate to illegal survviving practices. An interesting point of my participant observation was to reveal the motivations that these minors give when asked about the refusal to start a legal career inside the local Centres dedicated to the “non accompanied minors”. Their autoreflexivity brings some light on the controversy regarding the adequacy of the local and national care system and the migratory projects the minors have. In this respect, a small part of the research is dedicated to the phenomena of minors’ street prostitution in Bologna, as a useful contribution to the fragmented vision researchers have on the “unaccompanied” or “separated” children. The last chapter focuses on a decentered cooperation project that emerged as an alternative response the local administration from Bologna had chosen for facing the presence of numerous migrants coming from the south of Romania. The group of Romanian roma who was also the object of my field research became the starting point for the cooperation proposals between the city of Bologna and the city of Craiova. Although there are three projects involving the two administrations, throughout a period of stage in the Romanian city of Craiova I chose to analyse, only the one dedicated to the “urgent measures” requested in order to contrast the illegal migration and the trafficking in minors. This final part of the thesis highlightens the possible contribution that such a project might bring to the study of a complex and in some parts contradictory phenomena as that of the “unaccompanied” migrant minors.

La violenza sull'anziano: Aspetti medico-legali di una problematica sommersa

L’abuso dell’anziano è una condizione estremamente diffusa e ha un grande costo umano e finanziario. La dimensione reale del problema del maltrattamento dell’anziano non è stata correttamente definita, in particolare i casi segnalati ufficialmente di abuso sono solo la "punta dell'iceberg". In questi anni il problema è stato riconosciuto a livello internazionale come un fenomeno comune, che viene sottostimato e degno di attenzione da parte della comunità scientifica. In Italia non ci sono molti dati, la prevalenza degli abusi e maltrattamenti può essere circa il 5% e il problema è ampiamente sottovalutato, perché sono scarse le segnalazioni di abusi. Le evidenze disponibili dimostrano che l'abuso sugli anziani in Italia costituisce una questione pubblica, tuttavia, la legislazione e le politiche per affrontare il fenomeno sono scarse, riflettendo la mancanza di una strategia nazionale coerente e globale. Il codice civile italiano non contiene alcun riferimento esplicito a persone anziane, e pochi sono anche gli articoli del codice penale che riguardano le persone anziane. Gli articoli più rilevanti interessate sono le seguenti: art. 572: "Maltrattamenti contro familiari e conviventi" e art. 643: "circonvenzione di persone incapaci". Il presente studio ha lo scopo di analizzare la situazione attuale del fenomeno nel nostro Paese, al fine di valutare la dimensione del problema e le relazioni di abuso e maltrattamenti tra vittime, caregiver e operatori sanitari alle autorità.

Epigenetic signature in persons with Down Syndrome

Persons affected by Down Syndrome show a heterogeneous phenotype that includes developmental defects and cognitive and haematological disorders. Premature accelerated aging and the consequent development of age associated diseases like Alzheimer Disease (AD) seem to be the cause of higher mortality late in life of DS persons. Down Syndrome is caused by the complete or partial trisomy of chromosome 21, but it is not clear if the molecular alterations of the disease are triggered by the specific functions of a limited number of genes on chromosome 21 or by the disruption of genetic homeostasis due the presence of a trisomic chromosome. As epigenomic studies can help to shed light on this issue, here we used the Infinium HumanMethilation450 BeadChip to analyse blood DNA methylation patterns of 29 persons affected by Down syndrome (DSP), using their healthy siblings (DSS) and mothers (DSM) as controls. In this way we obtained a family-based model that allowed us to monitor possible confounding effects on DNA methylation patterns deriving from genetic and environmental factors. We showed that defects in DNA methylation map in genes involved in developmental, neurological and haematological pathways. These genes are enriched on chromosome 21 but localize also in the rest of the genome, suggesting that the trisomy of specific genes on chromosome 21 induces a cascade of events that engages many genes on other chromosomes and results in a global alteration of genomic function. We also analysed the methylation status of three target regions localized at the promoter (Ribo) and at the 5’ sequences of 18S and 28S regions of the rDNA, identifying differently methylated CpG sites. In conclusion, we identified an epigenetic signature of Down Syndrome in blood cells that sustains a link between developmental defects and disease phenotype, including segmental premature aging.