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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
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-344-4
Dalila De Vita
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.
皮层发育畸形(MCDs)是由人类大脑皮层形成过程的中断引起的,目前还没有针对弥漫性MCDs的药物治疗方法。下一代测序加速了mcd致病基因的鉴定:在某些情况下,需要进行功能研究来阐明遗传变异的作用。该博士项目的目的是应用多学科方法识别mcd患者的致病突变,验证所识别的突变的致病作用,并评估新型体外治疗mTOR途径相关mcd的有效性。
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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
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-420-5
M. Di Rosa
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.
本文对科西嘉岛中部地区进行了研究,目的是重建占据阿尔卑斯科西嘉构造堆积层较深层的大陆和海洋高压单元的构造变质史,以及它们与欧洲边缘(海西西科西嘉)的地层和构造关系。研究内容包括地质填图、中尺度和微尺度构造分析、微探针化学分析和微图采集、变长岩特定方法的热气压估算、锆石和allanites的U-Th-Pb定年等。所获得的结果可以重建从二叠纪到布尔迪亚纪的高寒带这一段的地球动力学模型。
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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
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-380-2
L. Colzi
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.
研究银河系和太阳系化学史最重要的工具之一是测量化学元素的同位素分馏。本研究提出了新的天文观测结果,致力于研究分子中氢和氮的分馏(D/H和14N/15N比),朝向不同演化阶段的大质量恒星形成区。此外,还对碳分馏进行了新的详细理论研究,即12C/13C比值。其中一个主要结果是证实了14N/15N比率随着星系中心距离的增加而增加,这与恒星核合成星系化学演化模型的预测一致。这项工作为理解局部化学过程提供了新的重要输入,这些过程有利于在恒星形成区域产生具有不同同位素的分子。
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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
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-397-0
Rasha Al Owaidi
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.
这项工作的重点是研究和确定阿拉伯痕迹的存在,无论是正式的还是实质性的,在安德里亚·达·巴贝里诺的作品中。批判性的分析是基于详尽的阿拉伯语起源术语的详细记录,对作者确定的六部小说进行了分析。调查强调,无论是从词汇的角度来看,还是从神话的角度来看,巴贝里诺和阿拉伯世界之间都缺乏直接的关系。
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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
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-374-1
C. Ricci
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.
本出版物的主题是Santa Maria degli Angeli的Camaldolese修道院,位于佛罗伦萨的历史中心,位于via degli Alfani, via del Castellaccio和布鲁内莱斯基广场之间的区域。对这座建于1295年的宗教建筑群的研究有两个目的,一是重建过去四个世纪的历史建筑事件,二是确定1866年被镇压后分裂的原因。不同属性之间的分割导致Camaldolese修道院目前的建筑可读性下降;正因为如此,这个14 - 15世纪佛罗伦萨最重要的宗教和文化中心之一,不仅被市民们“遗忘”了,而且也被史学界“遗忘”了。
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引用次数: 1
Legalità e mutamenti giurisprudenziali nel diritto penale 法律和刑法中判例法的变化
Pub Date : 2021-01-01 DOI: 10.36253/978-88-5518-368-0
A. Galante
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.
在过去几年中,宪法法院、最高法院和人权法院不得不更加认真地处理刑法中的裁决溯及既往的问题。在Contrada c. italy一案中,欧洲人权法院裁定,由于不可预见地追溯适用司法创造的刑事犯罪而违反了第7条规定的合法性原则,在此之后,公民在被推翻的情况下的保障问题更加突出。什么样的时间效应对一个不利的否决决定是最好的?它的适用是否应限于在它之后发生的行为,或者它是否应追溯地适用,并对那些依靠先前的决定而只做法院宣布为合法的事情的人追究刑事责任?刑法中对判决溯及既往的有限禁止似乎有助于促进个人与国家之间的最新关系。
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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
Pub Date : 2020-01-01 DOI: 10.36253/978-88-5518-061-0
L. Talluri
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.
特斯拉膨胀机最早是由特斯拉在20世纪初发明的。近年来,由于对微型发电和从废流中回收能源的需求日益增加,这种具有成本效益的膨胀技术重新引起了人们的兴趣。在本研究中,实现了一个二维数值模型,并提出了一种用于ORC应用的特斯拉涡轮的设计方法。通过评估各部件的损耗,提出了一种整体优化方法。通过三维计算研究的发展,可以进一步利用二维模型的结果,从而准确地理解流动特性。最后对两个原型进行了设计、实现和测试。前者被设计成以空气作为工作流体。第二个原型机设计用于处理有机流体。实验结果证实了该新兴技术在微尺寸、低入口温度和低膨胀比领域的有效性和巨大的潜在应用机会。
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引用次数: 4
Imaging light transport at the femtosecond scale 飞秒尺度光传输成像
Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-781-8
L. Pattelli
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.
纸、牛奶、云和白色油漆有一个共同的特性:它们是不透明的无序介质,光在其中随机散射,而不是沿直线传播。事实上,对于非常厚和浑浊的介质,光最终以“扩散”的方式传播,即类似于茶通过热水的方式。然而,通常情况下,材料既不是完全不透明的,也不是完全透明的,简单的扩散模型不成立。在这项工作中,我们开发了一种新的光学门控装置,使我们能够以亚ps的时间分辨率观察散射介质中的光传输。从这种时空描述中出现了一系列未被探索的光传播方面,揭示了以前由于涉及的极端时间尺度和缺乏分析模型而无法获得的传输机制。
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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
Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-789-4
D. Verardi
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.
这本书的主题是乔凡尼·巴蒂斯塔·德拉·门的自然魔法中的“自然的秘密”(1535-1615)。这一主题的研究既与16世纪那不勒斯亚里士多德的内部辩论有关,也与文艺复兴魔法传统的建议有关。这本书还讨论了巫术的问题,这不仅是一种哲学现象,而且在历史上与门的斗争有关,门的斗争导致人们反对对自然秘密的任何迷信解释,包括最黑暗的秘密。
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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
Pub Date : 2019-03-01 DOI: 10.36253/978-88-6453-779-5
R. Valenti
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.
散发性脑小血管疾病(SVD)被认为是大脑中最常见的神经病理过程之一,在老年人中风、认知障碍和功能丧失中起着至关重要的作用。我们通过五项研究的一系列分析,研究了SVD的临床(神经影像学和认知)生物标志物。散发性脑SVD是一个复杂的“微观世界”,需要全球考虑。所有相关病变类型及SVD神经影像学负担均应考虑在内。SVD患者脑微血管病变负荷的累积效应至关重要。认知康复可能是预防血管性痴呆或改善脑SVD患者认知表现的一种有希望的方法。纵向研究可以为我们的研究结果的进展和预后意义提供更可靠的信息。
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引用次数: 0
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Premio Tesi di Dottorato
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