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Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development 下一代测序鉴定的皮质发育畸形基因变异的功能验证
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-344-4
Dalila De Vita
{"title":"Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development","authors":"Dalila De Vita","doi":"10.36253/978-88-5518-344-4","DOIUrl":"https://doi.org/10.36253/978-88-5518-344-4","url":null,"abstract":"Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83701145","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Tectono-metamorphic evolution of the continental units along the edge between Alpine and Hercynian Corsica 阿尔卑斯-海西-科西嘉边缘大陆单元的构造变质演化
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-420-5
M. Di Rosa
{"title":"Tectono-metamorphic evolution of the continental units along the edge between Alpine and Hercynian Corsica","authors":"M. Di Rosa","doi":"10.36253/978-88-5518-420-5","DOIUrl":"https://doi.org/10.36253/978-88-5518-420-5","url":null,"abstract":"In this work the central area of Corsica island was studied in order to reconstruct the tectono-metamorphic history of the continental and oceanic high pressure units that occupy the structurally deeper levels of the tectonic stacking of Alpine Corsica and their stratigraphic and structural relationship with the European margin (Hercynian Corsica). The study includes the geological mapping, the mesoscale and microscale structural analysis, the acquisition of chemical analyzes and micromaps with the microprobe, thermobarometric estimation through specific methodologies for metapelites, U-Th-Pb dating of zircons and allanites. The results obtained allows to reconstruct the geodynamic model of this sector of the Alpine belt from the Permian to the Burdigalian.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89946542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Isotopic fractionation study towards massive star-forming regions across the Galaxy 银河系大质量恒星形成区的同位素分馏研究
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-380-2
L. Colzi
{"title":"Isotopic fractionation study towards massive star-forming regions across the Galaxy","authors":"L. Colzi","doi":"10.36253/978-88-5518-380-2","DOIUrl":"https://doi.org/10.36253/978-88-5518-380-2","url":null,"abstract":"One of the most important tools to investigate the chemical history of our Galaxy and our own Solar System is to measure the isotopic fractionation of chemical elements. In the present study new astronomical observations devoted to the study of hydrogen and nitrogen fractionation (D/H and 14N/15N ratios) of molecules, towards massive star-forming regions in different evolutionary phases, have been presented. Moreover, a new detailed theoretical study of carbon fractionation, 12C/13C ratios, has been done. One of the main results was the confirmation that the 14N/15N ratio increases with the galactocentric distance, as predicted by stellar nucleosynthesis Galactic chemical evolution models. This work gives new important inputs on the understanding of local chemical processes that favor the production of molecules with different isotopes in star-forming regions.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72652759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
La letteratura cavalleresca e il mondo arabo: il caso di Andrea da Barberino 骑士文学和阿拉伯世界:安德里亚·达·巴贝里诺的例子
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-397-0
Rasha Al Owaidi
{"title":"La letteratura cavalleresca e il mondo arabo: il caso di Andrea da Barberino","authors":"Rasha Al Owaidi","doi":"10.36253/978-88-5518-397-0","DOIUrl":"https://doi.org/10.36253/978-88-5518-397-0","url":null,"abstract":"This work focuses on the research and identification of the existence of Arabic traces, both formal and substantial, within the works of Andrea da Barberino. The critical analysis was based on the elaboration of an exhaustive register of terms of Arabic origin conducted on the six novels attributed with certainty to the author. The survey highlighted the substantial absence of a direct relationship between Barberino and the Arab world, both from the lexical point of view and as regards the mythographic aspects.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"75613623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Santa Maria degli Angeli: un monastero camaldolese “dimenticato” nel centro di Firenze 天使的圣玛丽:佛罗伦萨市中心的一座“被遗忘”的卡马多里修道院
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-374-1
C. Ricci
{"title":"Santa Maria degli Angeli: un monastero camaldolese “dimenticato” nel centro di Firenze","authors":"C. Ricci","doi":"10.36253/978-88-5518-374-1","DOIUrl":"https://doi.org/10.36253/978-88-5518-374-1","url":null,"abstract":"The topic of this publication is the Camaldolese monastery of Santa Maria degli Angeli, located in the historic center of Florence, in an area between via degli Alfani, via del Castellaccio and piazza Brunelleschi. The study of the religious complex, founded in 1295, was tackled with the dual purpose to reconstruct the historical-architectural events of the last four centuries and to identify the causes of the fractionation following its suppression in 1866. The fractionation between different properties resulted in the current loss of architectural legibility of the Camaldolese monastery; for this reason one of the most important religious and cultural centers of the Florentine fourteenth-fifteenth century was almost “forgotten” not only by the citizens, but also by historiography.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77084005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Legalità e mutamenti giurisprudenziali nel diritto penale 法律和刑法中判例法的变化
Premio Tesi di Dottorato Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-368-0
A. Galante
{"title":"Legalità e mutamenti giurisprudenziali nel diritto penale","authors":"A. Galante","doi":"10.36253/978-88-5518-368-0","DOIUrl":"https://doi.org/10.36253/978-88-5518-368-0","url":null,"abstract":"Over the past several years, constitutional, supreme and human rights courts had to deal with the problem of adjudicative retroactivity in criminal law with ever-greater intensity. Following the case Contrada c. Italie, in which the European Court of Human Rights found a violation of the legality principle under Art. 7 due to an unforeseeable retrospective application of a judicially created criminal offence, the issue of citizens’ safeguard upon an overruling occurrence is even more in the foreground. What temporal effect is best given to an unfavorable overruling decision? Should its application be limited to acts and conduct occurring after it or should it operate retrospectively and subject to criminal responsibility those who, acting in reliance on an earlier decision, did only what courts declared to be lawful? A limited prohibition of adjudicative retroactivity in criminal law seems to help foster an up-to-date relationship between the individual and the state.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"89095056","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Micro turbo expander design for small scale ORC 小型ORC微型涡轮膨胀机设计
Premio Tesi di Dottorato Pub Date : 2020-01-01 DOI: 10.36253/978-88-5518-061-0
L. Talluri
{"title":"Micro turbo expander design for small scale ORC","authors":"L. Talluri","doi":"10.36253/978-88-5518-061-0","DOIUrl":"https://doi.org/10.36253/978-88-5518-061-0","url":null,"abstract":"The Tesla expander was first developed by N. Tesla at the beginning of the 20th century. In recent years, due to the increasing appeal towards micro power generation and energy recovery from wasted flows, this cost effective expander technology rose a renovated interest. In the present study, a 2D numerical model is realized and a design procedure of a Tesla turbine for ORC applications is proposed. A throughout optimization method is developed by evaluating the losses of each component. The 2D model results are further exploited through the development of 3D computational investigation, which allows an accurate comprehension of the flow characteristics. Finally, two prototypes are designed, realized and tested. The former one is designed to work with air as working fluid. The second prototype is designed to work with organic fluids. The achieved experimental results confirmed the validity and the large potential applicative chances of this emerging technology in the field of micro sizes, low inlet temperature and low expansion ratios.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84046119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Imaging light transport at the femtosecond scale 飞秒尺度光传输成像
Premio Tesi di Dottorato Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-781-8
L. Pattelli
{"title":"Imaging light transport at the femtosecond scale","authors":"L. Pattelli","doi":"10.36253/978-88-6453-781-8","DOIUrl":"https://doi.org/10.36253/978-88-6453-781-8","url":null,"abstract":"Paper, milk, clouds and white paint share a common property: they are opaque disordered media through which light scatters randomly rather than propagating in a straight path. For very thick and turbid media, indeed, light eventually propagates in a ‘diffusive’ way, i.e. similarly to how tea infuses through hot water. Frequently though, a material is neither perfectly opaque nor transparent and the simple diffusion model does not hold. In this work, we developed a novel optical-gating setup that allowed us to observe light transport in scattering media with sub-ps time resolution. An array of unexplored aspects of light propagation emerged from this spatio-temporal description, unveiling transport regimes that were previously inaccessibile due to the extreme time scales involved and the lack of analytical models.","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83649746","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
La scienza e i segreti della natura a Napoli nel Rinascimento 文艺复兴时期那不勒斯的科学和自然的秘密
Premio Tesi di Dottorato Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-789-4
D. Verardi
{"title":"La scienza e i segreti della natura a Napoli nel Rinascimento","authors":"D. Verardi","doi":"10.36253/978-88-6453-789-4","DOIUrl":"https://doi.org/10.36253/978-88-6453-789-4","url":null,"abstract":"Il volume è dedicato al tema degli ‘occulti segreti della natura’ nella magia naturale di Giovan Battista Della Porta (1535-1615). L’argomento è studiato in relazione sia ai dibattiti interni all’aristotelismo napoletano del XVI secolo, sia alle proposte della tradizione magica rinascimentale. Il libro affronta anche il problema della stregoneria, fenomeno non prettamente filosofico, ma storicamente connesso alla lotta che Della Porta conduce contro ogni forma di spiegazione superstiziosa dei segreti naturali, compresi quelli più scabrosi.\u0000\u0000","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83847001","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
Cerebral Small Vessel Disease and Cerebral Amyloid Angiopathy 脑血管病和脑淀粉样血管病
Premio Tesi di Dottorato Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-779-5
R. Valenti
{"title":"Cerebral Small Vessel Disease and Cerebral Amyloid Angiopathy","authors":"R. Valenti","doi":"10.36253/978-88-6453-779-5","DOIUrl":"https://doi.org/10.36253/978-88-6453-779-5","url":null,"abstract":"Sporadic cerebral small vessel disease (SVD) is considered to be among the most commonly known neuropathological processes in the brain, hosting a crucial role in stroke, cognitive impairment, and functional loss in elderly subjects. We investigated clinical (neuroimaging and cognitive) biomarkers in the SVD, through a series of analyses from our five studies. Sporadic cerebral SVD is a complex ‘micro-world’ to be globally considered. All the relevant lesion types and SVD neuroimaging burden should be taken into account. The cumulative effects of microangiopathy burden in the brain of patients affected by SVD are crucial. Cognitive rehabilitation could represent a promising approach to prevent vascular dementia or to improve cognitive performances in patients with cerebral SVD. Longitudinal studies may provide more robust information about the progression and prognostic significance of our findings.\u0000","PeriodicalId":20330,"journal":{"name":"Premio Tesi di Dottorato","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2019-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"76511956","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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