University of Sassari

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    How exome sequencing is shedding light on the complexity of Mendelian disorders: some examples from Sardinia

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    The total number of Mendelian disorders is estimated to be around 7,000 and while each is individually rare, together, these genetic conditions contribute significantly to morbidity, mortality, and healthcare costs. In the last decade there has been a paradigm shift in their investigation due to the development of powerful new DNA sequencing technologies, such as whole exome sequencing. Although our knowledge of the diversity of Mendelian phenotypes is progressively increasing, substantial gaps remain. Up to 50% of patients affected by a rare genetic disorder never receive a diagnosis. We focused our attention on such Mendelian disorders and in a collaborative effort we studied by WES a cohort of heterogeneous samples affected by Crisponi/Cold-induced sweating syndrome-like, syndromic Intellectual Disabilities and Epileptic Encephalopathies. The results of our work along with others reported in the literature, are contributing to reveal the extensive clinical variability and genetic complexity underlying Mendelian phenotypes and inheritance, to provide insight into study design and approach and analytical strategies and to identify novel mechanisms. Our increasing knowledge on the genetic basis of rare disorders is shedding light on the “complex” nature of the “simple” Mendelian disorders and that “true monogenic” disorders are very rare, underscoring the current challenges of clinical diagnostics and discovery

    Sieroprevalenze di CAEV, MAP e CpHV1 in capre allevate in Sardegna e loro effetti sulle caratteristiche del latte

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    The aim of this thesis is to investigate whether seropositivity to CAE (caprine arthritis), PTB (paratuberculosis) and CpHV1 (goat herpesvirus type 1) may influence the coagulative characteristics of goat milk and its cheese yield. 1272 samples of milk and serum have been collected from goats distributed in 35 farms in Sardinia. The milk was analyzed for chemical parameters such as fat, protein, lactose, pH, somatic cell count and total bacterial load. The milk was also tested with the lactodynamography test for the classic parameters (RTC, K20, A30) and for the modeling parameters, while the nanocaseification was performed on 560 randomly extracted samples. Antibodies were investigated for the three pathologies with the ELISA technique for CAEV and PTB, and with serum neutralization for CpHV1. Data was analyzed using statistical software. The results obtained show a wide diffusion of the three pathologies with high prevalence rates. Although productions tend to be better on average in subjects with negative CAEV, PTB and CpHV1, no significant statistical associations have been observed, therefore seropositivity does not seem to negatively influence the capacity of cheesemaking milk of goats affected by these diseases. The control of these diseases in the future will be crucial

    Prevalence and identification of antibiotic residues in dairy cow’s bulk tank milk produced in Lebanon

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    This research was aiming to evaluate in Lebanon the prudent use of veterinary antibiotics and the prevalence of antibiotic residues in raw cow’s milk. A first survey concerning antibiotics and their utilization was carried out involving 100 farmers, developing a specific questionnaire. The results have shown that most of the Lebanese dairy farmers have a very low knowledge level about antibiotics. A second study to investigate the occurrence of veterinary drug residues in dairy raw milk produced in the seven Lebanese Governorates was also carried out. A total of 1020 raw milk samples that covers big and medium size dairy farms and dairy raw milk collection centers were collected. Samples were tested using a microbiological test for inhibitors, lateral flow test for residues and high-performance liquid chromatography (HPLC) test. Results show that using microbiological test, 22% (220) out of 1020 collected samples were double positive for inhibitors. HPLC-DAD test results showed that out of 220 double positive samples tested with microbiological test, 143 (65%) samples were contaminated with penicillin G (53.6%), tetracycline (23.1%) and florfenicol (22.7%). Charm® TRIO and AMPH tests revealed that out of arbitrary 95 positive samples tested using HPLC, 92 samples were contaminated with penicillin G (62.1%), tetracycline (43.2%), amphenicol (40%) and sulfa drugs (32.6%)

    Trattamento topico della oftalmomiasi esterna da Oestrus ovis: progettazione e sviluppo di un nuovo preparato galenico

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    Introduction Ophthalmomyiasis is an infection of the eye caused by the larvae of Oestrus ovis, Diptera. Currently, there are no available drugs to treat this condition in humans and mechanical removal of the larvae is the only effective therapy. Methods The study was divided into 3 Phases. The first was designed to identify and test “in vitro” new galenic formulation against O. ovis L1 larvae. The second addressed the cytotoxicity of the compounds tested in phase 1 on corneal and conjunctival cells. We assessed the toxicity of different dilutions of Propylene Glycol and then analyzed the combination of Ivermectin with DMSO, Glycol and Glycol + PVP-I. We also tested the 40, 60, 80X dilution of the stock solution. Finally, we tested the compounds in a rat model, in order to assess the in vivo toxicity of the galenic formulations. Results Ivermectin 1% solution and the combination of Ivermectin 1% + PVP-I 0.6% were found to be significantly better than propylene glycol alone, in terms of time needed to kill Larvae (p=0.0422). MTT assay confirmed low tissue toxicity. In the mouse model, no toxicity was found. Conclusion Our results suggest that Ivermectin 1% and Propylene glycol are both effective against L1 larvae and could be potential candidates for the treatment of ophthalmomyiasis caused by Oestrus ovis

    Nanotechnology applications: from bone regeneration to cancer therapy

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    Nanotechnology is still one of the best promises to overcome the major challenges of modern medicine. In this work, we identified innovative nanotools as potential candidates in two main biomedical applications: bone regeneration and cancer treatment. Knowing the correlation between the immune system function and the bone regeneration, nanomaterials able to combine and sustain an immune-mediated bone renewal are still missing. Considering the promising use of graphene, we exploited the intrinsic immune-characteristics of a specific Graphene Oxide (GO) and the well-known osteoinductive capacity of Calcium Phosphates (CaP) in a novel unique biocompatible nanomaterial called maGO-CaP (Monocytes Activator Graphene Oxide conjugated with Calcium Phosphates). This new material demonstrates, by performing in vitro and in vivo analysis, its ability to induce osteoinductive stimuli capable to increase bone regeneration. A very important challenge in medical research is the fight against cancer. In this context, silver nanoparticles (AgNPs) represent a promising nano-tool able to offer an interesting option for cancer therapy. We proposed a “green” synthesis method to produce AgNPs, using Artemisia arborescens extracts. We investigated the potential antiproliferative and anticancer proprieties of Artemisia-AgNPs using several approaches, from cell cycle analysis to RNA-sequencing, demonstrating the potentiality of Artemisia-AgNPs as a suitable candidate agent in cancer research

    Forage quality and methane emissions in dairy sheep

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    The work of this thesis focused direct methane measurements in in vivo and in vitro trials to test possible nutritional strategies aimed to reduce methane emissions from dairy sheep, specifically working on their diets in term of forage quality and inclusion of additives based on nitrate compounds. The first chapter included a review of literature and the rationale background. The second chapter present a trial planned with the aim to evaluate the effect of hays with different NDF content on milk production, digestibility and methane emissions in dairy sheep. It was observed that sheep fed hays with lower vs. higher content of NDF produced significantly more milk and lower methane emissions. The third chapter presents a study on the effect of haylages with low and high NDF content on lactating dairy sheep in late lactation. The results showed that milk production and methane emissions were not influenced by the diet. H-NDF vs. L-NDF group produced more methane per unit of milk without significant differences. The fourth chapter presented an In vitro aimed to evaluate the effects of nanocarriers associated in different combinations to nitrate based compounds and other additives to reduce the methane emission. Cumulative methane emissions at 48h were significantly affected by treatments. In terms of ml of methane per ml of produced gas, the use of aluminum nitrate NAl caused a reduction of emissions in respect to control without additives

    Investigation of the role of an evolutionarily selected autoimmunity variant in the BAFF gene in response to Malaria antigens

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    Population genetics signatures have revealed that an autoimmunity variant (BAFF-var) overexpressing soluble BAFF (sBAFF) showed significant evidence of positive selection, possibly due to adaptations to malaria infection. Interestingly, different studies have shown that mice overexpressing BAFF are protected from lethal Malaria infections. The aim of this project is to elucidate the role of BAFF-var during the response to malaria antigens, and thus to explain the possible protective role of BAFF-var. We prepared lysates of erythrocytes infected (iRBCs) or not infected (Control, uRBCs) with Plasmodium falciparum, a malaria pathogen that was highly prevalent in Sardinia were BAFF-var was detected and has been positively selected. The lysates were used to stimulate PBMCs genotyped for BAFF-var. After stimulation, samples were analyzed for differential gene expression and cell profiles by flow cytometry. In PBMCs purified from BAFF-var donors and treated with iRBCs, differential levels of B- and T- cell subpopulations, immunoglobulins as well as several cytokines were observed. These variations were associated with differential gene expression in several immune-related pathways such as the NFkB2 pathway and cytokines as determined by changes in RNA and protein levels. Increased production of sBAFF was observed in patients carrying the BAFF-var allele, which leads to an increased risk of autoimmunity. Differential gene expression, levels of specific B and T cells and cytokines secretion, implicated in malaria response potentially enhanced protection against malaria. These findings describe a previously unknown mechanism by which BAFF-var can potentiate the immune system against Plasmodium infection

    Ambiente, risorse, territorio e spopolamento in aree di montagna: l’Unione dei Comuni Barbagia e la Serra de Sicó

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    This study, whose main goal is to describe those ongoing processes of depopulation taking place in inland areas – both rural and mountainous ones – made it possible to observe how human activities characterizes a territory and how variable are those peculiarities (both material and immaterial ones) that lends originality to it. We decided to conduct this study focusing on two geographic realities that, although they could be considered – from a certain point of view – heterogeneous, share some common features: one of our study target areas is located in Sardinia (i.e. the Unione dei Comuni Barbagia), the other one is located in the Portuguese Região Centro (i.e. the Serra de Sicó). The main goal of this study is to examine the effects of depopulation on the territory while furthering our understanding of cultural identities and – especially – of the processes of their construction and reconstruction that take place as a consequence of territorial abandonment. At the same time, we will focus our attention on the fact that local development must arise out of territorial needs and inhabitants’ identities

    Effect of melatonin treatment on reproductive activity and immune response in Sarda sheep breed

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    The aims of the present thesis were to evaluate the effect of melatonin treatment (MELOVINE subcutaneous implant 18 mg melatonin) in different aspects of livestock of Sarda sheep breed (considering season, lactating periods, male replacement during mating perdiod, puberty, different melatonin receptor genotype, milk yield and mammary immune system). This study was conducted in different farms located in Sardinia and similar for raising condition and animals managment, involving a great number of sheep. The data confirmed that melatonin is able to advance reproductive recovery in Sarda sheep breed in spring. Furthermore, the most suitable time to perform the melatonin treatment for the best response to the male effect is April-May. Melatonin treatment should be performed 3 or 4 months after lambing, in order to obtain optimal reproductive results. A weekly substitution of the males and their treatment with melatonin guarantees a better reproductive efficiency both in the adult ewes and in the ewe lambs. Another interesting conclusion is that treatment with melatonin in lactating sheep does not change the quantity and quality of milk and decreases the number of somatic cells, suggesting that this molecule can preserve health of the mammary gland. In conclusion, this thesis has provided many results directly applicable in Sarda sheep farms in order to improve reproductive efficiency, furthermore can give a new starting point to the development of research

    Gli Obblighi informativi in materia di contratto di viaggio: dalla disciplina generale del contratto alla normativa dell'unione europea

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    The information obligations regarding travel contracts have undergone a profound evolution in recent years with respect to the general regulation of the contract, due to the intervention of the European Union legislation on consumer protection and tourist packages and related tourist services. As a result, the duty of information, which was previously an unwritten general rule of conduct, substantially implementing the duty of good faith and fairness referred to in articles 1175 and 1375 of the civil code, becomes a protection openly provided in favour of the weak consumer against contractual asymmetry and risk of abuse of power by the professional. Thus, we can witness a proceduralization of the information which becomes an explicit rule, according to rules that set out its content and form in detail and which are qualified as mandatory by the most recent European legislation. The recent directive 2015/2302 / EU and the Legislative Decree n. 62/2018, transposing the directive into the national legal system, indicate in detail the information that must be provided in the travel contracts, as defined therein, laying down rules of mandatory nature. In this way, the legal framework paves the way, in case of violation, to contractual remedies such as “virtual” nullity , that were previously categorically excluded from the prevailing legal doctrine doctrine and case law

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