Novel genes and novel pathogenetic mechanisms in adult-onset primary dystonia

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Genetic issues in the diagnosis of dystonias

Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures. Several causative genes have been identified, but their genetic bases still remain elusive. Primary Torsion Dystonias (PTDs), in which dystonia is the only clinical sign, can be inherited in a monogenic fashion, and many genes and loci have been identified for autosomal dominant (DYT1/TOR1A; DYT6/THAP1; DYT4/TUBB4a; DYT7; DYT13; DYT21; DYT23/CIZ1; DYT24/ANO3; DYT25/GNAL) and recessive (DYT2; DYT17) forms. However most sporadic cases, especially those with late-onset, are likely multifactorial, with genetic and environmental factors interplaying to reach a threshold of disease. At present, genetic counseling of dystonia patients remains a difficult task. Recently non-motor clinical findings in dystonias, new highlights in the pathophysiology of the disease, and the availability of high-throughput genome-wide techniques are proving useful tools to better understand the complexity of PTD genetics. We briefly review the genetic basis of the most common forms of hereditary PTDs, and discuss relevant issues related to molecular diagnosis and genetic counseling

Reconfigurable photonic metamaterials drive by Coulomb, Lorentz and optical forces

Metamaterials offer a huge range of enhanced and novel functionalities that natural materials cannot provide. They promise applications in superresolution imaging, optical data storage, optical filters, polarization control, cloaking, fraud prevention and many more. However, their unique optical properties are often narrowband and usually fixed. Here we demonstrate how the mechanical rearrangement of metamaterial structures at the nanoscale provides a powerful platform for controlling metamaterial properties dynamically. Using thermal, electrical, magnetic and optical control signals we demonstrate large-range tuning, high-contrast switching and modulation of metamaterial optical properties at megahertz frequencies and beyond. Beyond the obvious benefit of adding tunability to known metamaterial functionalities, this unlocks many new opportunities in areas such as light modulation and highly nonlinear & bistable optical device

Curriculum guide for the upper elementary grades

Thesis (Ed.M.)--Boston Universit

GIS mapping of the archaeological sites in the Molise region (Italy)

The Molise Region, on the Adriatic coast of southern Italy, experienced human presence since prehistoric times. Site distribution is not homogeneous throughout the region and a comprehensive census of all known archaeological sites has never been performed. In this paper, we present the results of a three-year project for the GIS mapping and database creation for all the known archaeological sites of the Molise Region. As a result, 3111 archaeological sites have been mapped, stored in a GIS database and then analysed through Spatial Analyst tools. Most of the mapped sites have been classified as area of archaeological finds (57.1% of the total sites), followed by settlements (12.9%) and buildings (9.8%). Site distribution is mainly clustered along the Biferno river valley, in the central and in the south-western sectors of the Molise Region. The largest human occupation of the region occurred during the Samnite and Roman ages. Archaeological sites are also located at different elevation a.s.l., with a general increasing trend of site elevation through time. This GIS database is, up to now, the most complete census of archaeological sites in the study area, thus representing a powerful tool to promote the archaeological heritage of the Molise Region and to address urban planning

The impacts of EU cohesion policy on sustainable tourism: The case of POSEUR in Algarve

Sustainable tourism is a main priority of European Union policies, with the aim of mitigating the potential harmful consequences of this sector on a given territory. The main research goal of this article is to better understand the impact of the public investments financed via EU Cohesion Policy in the tourism sector in the Portuguese Algarve NUT2. This paper focuses on the Portuguese Operational Programme for Sustainability and Efficient Use of Resources (POSEUR 20142020), which was an operational programme of a Portuguese framework to implement EU Cohesion Policy funds in Portugal between 2014 and 2020, and was specifically focused on supporting sustainable development processes. The sustainability performance of POSEUR in the Algarve was evaluated in five different dimensions of analysis: (1) low-emissions economy, (2) adaptation to climate change, (3) risk prevention and management, (4) environmental protection, and (5) resource efficiency. The results showed that POSEUR had a low impact in almost all dimensions in the Algarve, apart from the adaptation to climate change dimension, which exhibits a high impact score, mostly due to the support given for carrying out the Plans for Adaptation to Climate Change (PAAC).info:eu-repo/semantics/publishedVersio

Lorentz force metamaterial with giant optical magnetoelectric response

We demonstrate the first reconfigurable photonic metamaterial controlled by electrical currents and magnetic fields, providing first practically useful solutions for sub-megahertz and high contrast modulation of metamaterial optical properties

Assessing impacts of environmental sustainability public policies in the Lisbon Metropolitan Area: Using the Impact-WEB-GIS platform

Urban environmental sustainability is a growing concern within the United Nations and European Union’s ongoing policy agendas to fight climate change. This paper contributes to this debate by presenting the main impacts of the Operational Programme for Sustainability and Use of Resources (POSEUR 2014– 2020) in the Lisbon Metropolitan Area (NUTS II). The analysis was supported by the use of the Impact-WEB_GIS platform, specially developed for the purpose of this study, complemented by a territorial impact assessment methodology. In addition to the production of general impact scores, five analytic dimensions were further analysed, supported by state of the art: i) low-emissions economy, ii) adaptation to climate change, iii) risk prevention and management, iv) environmental protection and v) resource efficiency. At a strategic level, the research created awareness of the need to adjust regional policy to the region’s characteristics on environmental sustainability matters.info:eu-repo/semantics/publishedVersio