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Studio genetico della sclerosi laterale amiotrofica in Sardegna
No full textAims: This study is part of an ongoing and broader epidemiological research on ALS, aimed to disclose population-specific clinical and genetic variants of ALS in Sardinia. The study is carried out in collaboration with the University of Turin (Prof. Adriano Chiò and coll.) and the Unit of Neurology, Cagliari Health District (Dr. Giuseppe Borghero and coll.).
Methods: Sardinian ALS patients and controls, identified in the period 2008-2013, were included in the study and screened for TARDBP, C9ORF72, SOD1, and FUS mutations.
Results: Genetic mutations were identified in 155 cases (41.3%), in 74% of familial ALS (fALS) and in 30% of apparently sporadic ALS patients (sALS), mostly the p.A382T mutation of TARDBP (20.8%) and the C9ORF72 (13.6%). Some patients carried the double mutations p.A382T and p.G295S of TARDBP (0.3%) and both C9ORF72 and p.A382T of TARDBP (2.1%). Mutation of TARDBP was more frequent among sALS patients, while C9ORF72 mutation recurred more among fALS cases. Subjects carrying the C9ORF72 mutation had a higher frequency of FTD, bulbar-onset disease and a shorter survival. Patients with both C9ORF72 and the TARDBP p.A382T mutation had a significantly lower age at onset. ALS patients carrying the p.A382T and the p.G295S TARDBP mutations share different haplotypes across these loci.
Conclusions: Genetic mutations were identified in more than 40% of patients, higher than in other Caucasian populations, suggesting Sardinian type of ALS with its own behavior
Study to improving embryo yield pregnancy on the effect of assisted hatching (lah) in vitro fertilization
No full textLaser assisted hatching (LAH) technique is based on the hypothesis that making an artificial hole on zona pellucida (ZP) can help embryo to easily hatching out of ZP. This technique has been shown to increase implantation and pregnancy rates in women of advanced age, in women with recurrent implantation failure and following the transfer of frozen–thawed embryos. Assisted hatching (AH) by mechanical, chemical, or laser manipulation is applied to enable implantation in situations where it is decreased, such as, aging, high level of basal FSH, zona hardening, or in all ART treatments were implantation fail on two previous attempts. Zona assisted hatching was introduced to overcome the zona barrier in instances of suspected impairment to zona hatching due to either zona hardening or thickness, particularly in patients with repeated failures.
This study aimed to assess the effect of LAH in both fresh and frozen thawed embryos before to be transferred into a recipient uterus. Within a 18-month period a total of 220 embryo transfer cycles (110 LAH and 110 control) were performed using fresh embryos (fresh transfer) and 220 embryo transfer cycles (110 LAH and 110 control) using frozen-thawed embryos (frozen-transfer). The mean of embryos transferred in each cycle was 2.6±1.6 in fresh-transfer and 2.4±1.2 in thawed-transfer cycles. Implantation rate in fresh-transfer cycles was 41.8% vs 23.6% respectively in LAH and control groups. In frozen-transfer cycle, implantation rate in the LAH group was 50.98 % and in the control group 38.1%.
The rate of clinical pregnancies in fresh-transfer was 34.5% vs 18.1% in LAH and control respectively, while in the thawed-transfer was 40.9% in LAH and 30.9% in control. The percentage of early miscarriages related to biochemical pregnancies in fresh-transfer cycles was 10.5% in LAH and 10% in control while and in frozen-thawed cycles the percentage of early miscarriages related to clinical pregnancies was; 8.89% and 8.82% respectively in LAH and control groups. This result was equal or higher than other researchs about embryos transfer with or without LAH and we conclude that LAH improves outcome of fresh or frozen-thawed embryo transfer practices
Creating value-added cereal-based baked products: marketplace offer, laboratory-designed goods, and revisited local products
No full textIn recent years, the growing interest in well-being and healthy lifestyle, the increasing awareness of the relationship between non-communicable diseases and unhealthy diet, as well as the increasing prevalence of food intolerances have boosted the production of an increasing number of novel goods in both gluten-containing and gluten-free products market. The overall objective of this thesis was to create cereal-based baked products with added value with respect to those currently available on the European market, satisfying the consumers’ needs in terms of both sensory acceptability and superior nutritional profile. The research project was divided into three different parts. In the first part of the work a market study was performed to get a realistic and detailed overview of the current bread-market supply in both gluten-containing and gluten-free products market, in order to obtain an overall quality picture of the available offer in this prioritised food industry area. The second part evaluated the impact of wheat flour replacement up to 45% (weight basis) by incorporation of nutrience-dense raw materials (ancient cereals, pseudocereals and legumes) in improving wheat bread quality. Specific objectives were: a) to explore the competences and exploit the suitability of non-breadmaking whole grains (such as teff, buckwheat and green pea flours) with unique nutritional components to be simultaneously included in mixed wheat matrices, to obtain novel and healthy fermented baked goods meeting the functional and sensory restrictions of viscoelastic breadmaking systems; b) to investigate the thermal transitions that occur during starch gelatinization and retrogradation in these multicomponent bread matrices baked at restricted water availability, c) to evaluate the impact of non-breadmaking whole grains in the transition phases, and d) to explore the relationships between thermal properties and starch digestibility and firming kinetics of these multigrain bread matrices. The third part evaluated the impact of different flours, starches, polymeric substances, and surfactants on gluten-free dough performance to achieve gluten-free flat breads. The specific objective was to explore the capability of different gluten-free basic formulations made of different flour (rice, amaranth and chickpea) and starch (corn and cassava) blends, to make processable and viscoelastic GF-doughs in absence/presence of single hydrocolloids (guar gam, locust bean and psyllium fibre), proteins (milk and egg white) and surfactant (vegetable oil) in order to select the most promising formulations for producing the so called Spianata, a typical and widely consumed Sardinian flat bread
Analysis of the relationships between wild ungulates and forest in the Northern Apennines, Italy
No full textI explored some ecological aspects of the interaction between wild ungulates and forest environment. I reviewed the existent literature on the topic, and I found the relationship to be part of a extended ecological network, that includes several biotic and abiotic factors. The most advocated cause for elevated ungulate impact on forest is ungulate overabundance. Hence, I assessed the precision and applicability of three different census methods (drive census, pellet-group count, camera trapping method – REM) for roe deer in a mountainous forest. I found the R.E.M. method to be the best compromise, with intermediate precision and low demands. Moreover, I analyzed the browsing pressure of roe deer in several areas over a density gradient. I found the impact to be directly related to densities, and that the early-stage effects of browsing pressure will result in long-term differences in volume, between browsed and unbrowsed trees, even several years later the clear-cutting. Finally, to understand the effects of roe deer impact on the forest development, I used a forest development model (LANDIS-II) to simulate 200 years of forest development, considering harvesting and roe deer impact. I found that both disturbances influence species richness, abundance, and forest structure. Roe deer impact does not significantly affect harvesting yield, and the disturbances combined do not seem to represent an hazard for forest functionality
La Tutela degli ecosistemi marini in relazione all’applicazione dei differenti regimi normativi vigenti
No full textThe work briefly reviews the economic reasons to support an approach to environmental protection based on the principle of «command and control», alternative to market mechanisms.
Through a synthetic examination of the evolution of the Italian legislation, it moves on to examine the state of implementation in Italy of the «Habitats» and «Birds» directives, with regard to marine environment and the related issues.
Following the evolution of the legislation, special attention is paid to the issues related to the management of marine protected areas, in relation to the different standards underlying their establishment, with a focus on the problems concerning conflicts of competence insurgents, particularly in relations between central government and regions .
In relation to the particular case of the institution of the Sites of Community Interest in the marine environment (marine SCIs), it’s been developed the case study of the region of Sardinia, which was applied for the first time, through the establishment of marine SCIs overlapping to MPA’s, as an attempt to centralize the management of the two different systems of protection in a single management body.
A critical analysis of this approach shows that the establishment of marine SCIs experienced in Sardinia does not meet the requirements of the Community, including those relating to the indications issued by the Commission, on the basis of the case law of the European Court of Justice on the subject
The Social construction of time and adult-child power relationships in educational settings
No full textThe concepts of “adulthood “ and “childhood” are anchored in the fundamental temporal otherness of children perceived by adults. Adult's and child's temporalities are only partially overlapped and their relationship unfolds in the moment of overlap, when the concentration of powers of the past and for the future, which adult and child respectively “possess”, is particularly unequal.Future-oriented concerns underlie developmental 'becoming prospective' on children lives', which is being replaced with a 'being prospective' in the new sociology of childhood paradigm, where children participation and agency are of major importance. Recently the new consideration emerged within the new sociology of childhood, where 'being' and 'becoming' discourses must be conceptualized together in complimentary way. Education is a field of social life where children are treated as sites of investment, as human becomings- 'passive', 'active' or 'without end'. According to Bourdieu the time spent at school is characterized by particular forms of bodily control and expression which can serve to obtain from children and adults forms of consent that the mind could otherwise refuse. James and Prout argues that the social construction of time may be very fruitful for the study of childhood, considering centrality of time to developmental psychological concepts, distribution of power, to control children's time and order children lives
Per una storia delle élites politiche della Sardegna contemporanea: i senatori (1848-1943)
No full textThis paper aims to analyze the profile of the parliamentary class, and in particular of the Senators of Sardinia from 1848 to 1943. The research has conducted mainly to archival sources (Archivio Storico del Senato della Repubblica, Archivio Centrale dello Stato) and printed sources (Parliamentary papers), kept in the library of Italian Parliament. During the period considered, the Senators of Sardinia were 34 on 2.362 (only 1,4%). They were an “political élite”. They had a high cultural level. Their parliamentary activity was important. They were attentive to the interests of their island, but they had an overview of the problems of the State
[Recensione a] Cristiano Bettini, Oltre il fiume Oceano: uomini e navi romane alla conquista della Britannia
No full textCRISTIANO BETTINI, Oltre il fiume Oceano. Uomini e navi romane alla conquista della Britannia. Il modello di proiezione romano alla prova d’Oltremare raccontato da un marinaio, Roma, Laurus Robuffo, 2016, XXXI-509 p
Exploring the role of <i>Mycobacterium avium</i> subsp. <i>paratuberculosis</i> in multiple sclerosis
No full textMultiple sclerosis (MS) is a complex inflammatory disease of the central nervous system (CNS). Even though rigorous research was performed in MS field, its etiology as well the exact pathogenic mechanisms remain not well understood so far. Nevertheless it is believed to be a multifactorial disease, caused by environmental factors acting on a genetic predisposition. Several studies suggest that different microorganisms could play a role in triggering autoimmunity, through immunological cross-reactivity or molecular mimicry.
Recently it was reported an association between Mycobacterium avium subsp. paratuberculosis (MAP) and MS in Sardinia, proven both with the detection of bacterial DNA in the peripheral blood of MS patients, and with the finding of a strong humoral response against some MAP proteins which share homology with human proteins MS-related. Sardinians have a genetically isolated background characterized by a unique high-rate incidence of several autoimmune disorders such as MS. Taken together, this particular genetic makeup of Sardinians and the wide presence of a potentially infective microorganism such as MAP, could act synergistically in predisposing the population to develop MS.
We will try to understand if MAP is necessary for the development and progression of the disease, and if in case of co-infection, a synergism between MAP and others pathogens takes place
Sites and mechanisms of trigeminal nerve stimulation: a human and animal study
No full textTrigeminal nerve stimulation (TNS) has proven efficacious in the treatment of several neurological disorders, but sites and mechanisms of action are still unknown. TNS effects were investigated on: intracortical circuits and sensorimotor integration at cortical level (Study 1), brainstem excitability and plasticity (Study 2), in healthy subjects; hippocampal neurogenesis (Study 3), in rats. TNS consisted of 20min bilateral stimulation of the infraorbital nerve.
Study 1: Short- and long-interval intracortical inhibition, intracortical facilitation, short- and long-afferent inhibition were assessed using transcranial magnetic stimulation in 17 volunteers before and after TNS.
Study 2: The R1 and R2 areas of the blink reflex (BR) were measured before and after 0, 15, 30, 45min from TNS delivery.
Study 3: Hippocampal neurogenesis was evaluated in 18 male Sprague-Dawley rats after 24h from TNS, through immunohistochemical labeling of newly formed brain cells.
Results.
Study 1: cortical excitability and sensorimotor integration were unaltered by TNS.
Study 2: The R2 area of the BR was significantly reduced after TNS at all time points tested. By contrast, R1 area was unaffected.
Study 3: The number of newly formed cells in the dentate gyrus was significantly increased after TNS.
These data suggest that TNS mainly acts on brainstem polysynaptic circuits with a minor role in modifying the activity of higher-level structures. Acute TNS induces a long-lasting inhibition of the R2 component of the BR, which resembles a long-term depression-like effects. In the rat TNS promotes new cell proliferation in the hippocampus, which supports the notion of an involvement of hippocampal plasticity in the TNS effects described in several neurological conditions