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Introduction: Resistance to thyroid hormone β (RTHβ) is an inherited syndrome caused by dominant negative variants in the THRB gene (NM_000461.5). The clinical picture of RTHβ is variable, and patients harboring the same variant may display different degrees of disease severity. Case Presentation: A 30-year-old man presented with thyrotoxicosis and central hyperthyroidism and was found to have a novel variant in the exon 10 of THRB gene (c.C1282G, p.L428V), located within the third hot spot region of the C-terminal of the receptor. Surprisingly, the same variant was found in two other relatives with an apparent normal thyroid function at initial screening. After exclusion of a TSH-secreting adenoma and serum interference in the proband, and the finding that exogenous levothyroxine failed to suppress the TSH in the brother affected by nodular goiter, relatives’ thyroid function tests (TFTs) were reassessed with additional analytical method revealing biochemical features consistent with RTHβ in all carriers of the p.L428V variant. Functional studies showed a slightly impaired in vitro transcriptional activity of p.L428V. Interestingly‚ the expression of the human p.L428V thyroid hormone receptor beta in the zebrafish embryo background generated a phenotype consistent with RTHβ. Conclusion: Variable results of TFTs on some immunoassays can be a cause of RTHβ diagnostic delay, but the genotypephenotype correlation in this family and functional studies support p.L428V as a novel THRB variant expanding the spectrum of gene variants causing RTHβ. In vivo, rather than in vitro, functional assays may be required to demonstrate the dominant negative action of THRB variants

The unique life history features of seahorses (low mobility, site fidelity, low fecundity, high parental care) make them vulnerable to the environmental changes and anthropic pressures. Despite increasing concern over their conservation status, many biological and ecological aspects remain poorly documented therefore disabling and limiting management strategies. Most of the Mediterranean populations are threatened by human activities and a recent document drawn up by the Italian Committee of IUCN for marine fish of the Italian coasts defined the two species as Near Threatened (NT). During the last 15 years, despite the absence of specific funding projects and thanks to the large group of volunteers working alongside researchers, a considerable research group has been created, allowing investigation of several aspects of seahorse life cycle in an area that has never been studied before. In this period, we have conducted several studies on their spatial and temporal persistence, population structure, habitat preferences, and diet composition. Hippocampus guttulatus and H. hippocampus are two sympatric species distributed throughout the entire Mediterranean Sea. Thau lagoon was considered as the area with the highest seahorse density but, thanks to this research group, the importance of Taranto Mar Piccolo as a site of the extraordinary conservation interest has been highlighted. Both species display patchy distribution and a high spatial demographic heterogeneity despite the fact that the most abundant populations are unbalanced in terms of size classes, presumably indicating problems in the local recruitment or due to the anomalous mortality. They show a tendency for covered substrates (e.g. Corallina sp. and Cladophora sp. facies) offering complex and holdfast-rich microhabitats. Both species, however, can also exploit uncovered substrates as well as infralittoral habitats. The diet shows strong differences in diversity and abundance of preyed taxa related to the habitat of occurrence. Overall, amphipods, copepods and isopods are the major contributors to the diet. Although temporal persistence on a large scale was observed, indicating the capacity to resist and persist in time and space, seahorses are in a state of distress because of patchy distribution and unstructured populations. This, even more, highlights the need for suitable strategies to protect foraging habitats and ecosystems where there are numerous populations, like in Mar Piccolo of Taranto.

Relazione "Progetto ESCADA - Energy SCAD: Remote Supervision and Control Method of Multiple Power Generation System Using Renewable Energy". Nella presente relazione si analizzano gli elementi relativi alla messa a punto di un sistema per la valutazione dell'efficienza di un impianto fotovoltaico, con particolare riferimento allo sviluppo, implementazione e test di un modello di stima dell'energia prodotta basato sull'utilizzo di reti neurali. Accanto ad una introduzione di carattere generale sulle caratteristiche di un impianto fotovoltaico e dei principali fattori che ne influenzano il rendimento, nel capitolo dedicato ai materiali e metodi, vengono descritte in dettaglio le caratteristiche delle reti di misura delle variabili ambientali utilizzate per la raccolta dei dati che costituiscono l'input del modello di stima.

La consapevolezza dei cambiamenti globali e dell'importanza delle risposte locali spingono oggi gli enti locali a giocare un ruolo attivo nella messa in opera delle strategie di adattamento e mitigazione dei cambiamenti climatici. Un requisito indispensabile per implementare politiche efficaci ed appropriate rispetto al territorio è quello di disporre di un quadro conoscitivo dettagliato. In questo contesto la Regione Toscana ha attivato, a partire dal 2004, il progetto Osservatorio Kyoto che ha come obiettivo il monitoraggio del bilancio della CO2 a scala regionale. Il bilancio fornisce uscite periodiche delle emissioni dei principali settori produttivi e degli assorbimenti operati dagli ecosistemi forestali, questi ultimi anche con cadenza trimestrale. In particolare, la misura degli assorbimenti forestali si basa su un approccio multiscala che integra misure di flusso puntuali da torri eddy covariance e da piattaforma aerea, che vengono impiegate per calibrare e validare un modello biogeochimico a scala regionale. Nel progetto è stata applicata una metodologia di misura degli assorbimenti, integrando le tecnologie di misura state-of-the-art del mondo scientifico per trasferirle in modo operativo all'Amministrazione Regionale Toscana, attraverso la redazione di un bilancio a scala comunale, consultabile ed interrogabile attraverso un'applicazione WebGIS.

In the last years the increasing needs of geographical information for environmental analysis and monitoring purposes have encouraged the development of web-oriented GIS architectures. In this paper we present the implementation of a general purpose framework devoted to support the research activities through WebGIS applications finalized to share results with scientific community, decision-makers and/or other stakeholders. The architecture proposed as well as the user interface have been implemented using open source tools in order to guarantee the web application sustainability and the implementation of customized geospatial functions required by research projects. The framework is composed by a WebGIS application (WGViewer) developed using PHP/Ajax technologies and based on KaMap (0.2) project. The GUI with analysis and querying functions are completely customizable using a system database through which the application is able to work with many different profiles and datasets. The PHP application is able to access and manage spatial data through MapServer library and its php_mapscript wrapper. The framework can manage different projects at the same time and can access to specific Geo Databases; datasets can be composed by georeferenced files or stored into a PostgreSQL/PostGIS DBMS. The main services include a WMS and a metadata catalogue, a J2EE application based on GeoNetwork project. The Kyoto Observatory geoportal of Tuscany Regional Government is one of scientific projects where this framework has been used in order to store, visualize and integrate datasets of CO2 carbon balance at different spatial and time scales. This web application has been developed to monitor the response of ecosystems to the inter-annual climate variations implementing specific queries and grid-based extraction functions.