New insights into methodology and interpretation of osteoarthritis. The study of Frassetto identified skeletal collection.

Osteoarthritis (OA) or degenerative joint disease (DJD) is a pathology which affects the synovial joints and characterised by a focal loss of articular cartilage and subsequent bony reaction of the subcondral and marginal bone. Its etiology is best explained by a multifactorial model including: age, sex, genetic and systemic factors, other predisposing diseases and functional stress. In this study the results of the investigation of a modern identified skeletal collection will be presented. In particular, we will focus on the relationship between the presence of OA at various joints. The joint modifications have been analysed using a new methodology that allows the scoring of different degrees of expression of the features considered. Materials and Methods The sample examined comes from the Sassari identified skeletal collection (part of “Frassetto collections”). The individuals were born between 1828 and 1916 and died between 1918 and 1932. Information about sex and age is known for all the individuals. The occupation is known for 173 males and 125 females. Data concerning the occupation of the individuals indicate a preindustrial and rural society. OA has been diagnosed when eburnation (EB) or loss of morphology (LM) were present, or when at least two of the following: marginal lipping (ML), esostosis (EX) or erosion (ER), were present. For each articular surface affected a “mean score” was calculated, reflecting the “severity” of the alterations. A further “score” was calculated for each joint. In the analysis sexes and age classes were always kept separate. For the statistical analyses non parametric test were used. Results The results show there is an increase of OA with age in all the joints analyzed and in particular around 50 years and 60 years. The shoulder, the hip and the knee are the joints mainly affected with ageing while the ankle is the less affected; the correlation values confirm this result. The lesion which show the major correlation with age is the ML. In our sample males are more frequently and more severely affected by OA than females, particularly at the superior limbs, while hip and knee are similarly affected in the two sexes. Lateralization shows some positive results in particular in the right shoulder of males and in various articular surfaces especially of the superior limb of both males and females; articular surfaces and joints are quite always lateralized to the right. Occupational analyses did not show remarkable results probably because of the homogeneity of the sample; males although performing different activities are quite all employed in stressful works. No highest prevalence of knee and hip OA was found in farm-workers respect to the other males. Discussion and Conclusion In this work we propose a methodology to score the different features, necessary to diagnose OA, that allows the investigation of the severity of joint degeneration. This method is easier than the one proposed by Buikstra and Ubelaker (1994), but in the same time allows a quite detailed recording of the features. Epidemiological results can be interpreted quite simply and they are in accordance with other studies; more difficult is the interpretation of the occupational results because many questions concerning the activities performed by the individuals of the collection during their lifespan cannot be solved. Because of this, caution is suggested in the interpretation of bioarcheological specimens. With this work we hope to contribute to the discussion on the puzzling problem of the etiology of OA. The possibility of studying identified skeletons will add important data to the description of osseous features of OA, enriching the medical documentation, based on different criteria. Even if we are aware that the clinical diagnosis is different from the palaeopathological one we think our work will be useful in clarifying some epidemiological as well as pathological aspects of OA.

Methodologies for the analysis and interpretation of environmental datasets from areas interested by offshore activities

The exploitation of hydrocarbon reservoirs by the oil and gas industries represents one of the most relevant and concerning anthropic stressor in various marine areas worldwide and the presence of extractive structures can have severe consequences on the marine environment. Environmental monitoring surveys are carried out to monitor the effects and impacts of offshore energy facilities. Macrobenthic communities, inhabiting the soft-bottom, represent a key component of these surveys given their great responsiveness to natural and anthropic changes. A comprehensive collection of monitoring data from four Italian seas was used to investigate distributional pattern of macrozoobenthos assemblages confirming a high spatial variability in relation to the environmental variables analyzed. Since these datasets could represent a powerful tool for the industrial and scientific research, the steps and standardized procedures needed to obtain robust and comparable high-quality data were investigated and outlined. Over recent years, decommissioning of old platforms is a growing topic in this sector, involving many actors in the various decision-making processes. A Multi-Criteria Decision Analysis, specific for the Adriatic Sea, was developed to investigate the impacts of decommissioning of a gas platform on environmental and socio-economic aspects, to select the best decommissioning scenario. From the scenarios studied, the most impacting one has resulted to be total removal, affecting all the faunal component considered in the study. Currently, the European nations are increasing the production of energy from offshore wind farms with an exponential expansion. A comparative study of methodologies used five countries of the North Sea countries was carried out to investigate the best approaches to monitor the effects of wind farms on the benthic communities. In the foreseeable future, collaboration between industry, scientific communities, national and international policies are needed to gain knowledge concerning the effects of these industrial activities on the ecological status of the ecosystems.

Gadda neobarocco. Corrispondenze fra Barocco storico e Barocco moderno

Nei primi due capitoli mi occupo del recupero del Barocco in ambito novecentesco e delle diverse letture e interpretazioni del Barocco e del Neobarocco, concetto che nasce dalla riflessione sul Barocco lungo tutto il Novecento. Riflessione che è stata anche una rivendicazione, a livello estetico, ma non solo, di una attualità o contemporaneità del Barocco, che accomuna tutta la riflessione sulla scoperta della cultura di un secolo, da Wölfflin a Benjamin, da Riegl a Anceschi. Si tratta anche di un rapporto fra Barocco storico e Neobarocco: se la stessa rivalutazione e riscoperta dell’arte del XVII secolo, dalla fine dell’Ottocento e lungo tutto il Novecento, ha coinciso con la sua costruzione terminologica ed ermeneutica, di questa nuova categoria è lo stesso approccio intellettuale contemporaneo che può definirsi, nella più ampia accezione, «neobarocco». Nel terzo capitolo, invece, ho approfondito il rapporto fra Gadda e il Barocco, partendo dal concetto di allegoria moderna di Walter Benjamin. Fondamentale per la mia ricerca è stato il libro di Gilles Deleuze, La piega. Leibniz e il barocco, che ha visto nell’opera del filosofo Leibniz (studiato anche dal proprio Gadda) la chiave di lettura per capire il Barocco nelle sue diverse manifestazioni. E anche il libro di Robert Dombroski, Gadda e il barocco, in cui si parte appunto dal concetto di barocco/neobarocco come punto di approccio per studiare il barocco di Gadda. Infatti, lo stile di Gadda risponde al canone barocco che il poststrutturalismo ha riaccolto nel vivo del dibattito estetico, si pensi ai contributi di Roland Barthes e di Severo Sarduy e, posteriormente, all’opera proprio di Deleuze. Nell’ultimo capitolo, poi, faccio un’analisi di Gadda traduttore di opere del Seicento spagnolo, opere che vengono da lui riscritte grazie alla rielaborazione del passato attraverso il suo linguaggio neobarocco.

Raccontare gli Antichi: le "Imagini" di Vincenzo Cartari

Con le "Imagini degli dei degli antichi", pubblicate a Venezia nel 1556 e poi in più edizioni arricchite e illustrate, l’impegnato gentiluomo estense Vincenzo Cartari realizza il primo, fortunatissimo manuale mitografico italiano in lingua volgare, diffuso e tradotto in tutta l’Europa moderna. Cartari rimodula, secondo accenti divulgativi ma fedeli, fonti latine tradizionali: come le ricche "Genealogie deorum gentilium" di Giovanni Boccaccio, l’appena precedente "De deis gentium varia et multiplex historia" di Lilio Gregorio Giraldi, i curiosi "Fasti" ovidiani, da lui stesso commentati e tradotti. Soprattutto, però, introduce il patrimonio millenario di favole ed esegesi classiche, di aperture egiziane, mediorientali, sassoni, a una chiave di lettura inedita, agile e vitalissima: l’ecfrasi. Le divinità e i loro cortei di creature minori, aneddoti leggendari e attributi identificativi si susseguono secondo un taglio iconico e selettivo. Sfilano, in trionfi intrisi di raffinato petrarchismo neoplatonico e di emblematica picta poesis rinascimentale, soltanto gli aspetti figurabili e distintivi dei personaggi mitici: perché siano «raccontate interamente» tutte le cose attinenti alle figure antiche, «con le imagini quasi di tutti i dei, e le ragioni perché fossero così dipinti». Così, le "Imagini" incontrano il favore di lettori colti e cortigiani eleganti, di pittori e ceramisti, di poeti e artigiani. Allestiscono una sorta di «manuale d’uso» pronto all’inchiostro del poeta o al pennello dell’artista, una suggestiva raccolta di «libretti figurativi» ripresi tanto dalla maniera di Paolo Veronese o di Giorgio Vasari, quanto dal classicismo dei Carracci e di Nicolas Poussin. Si rivelano, infine, summa erudita capace di attirare appunti e revisioni: l’antiquario padovano Lorenzo Pignoria, nel 1615 e di nuovo nel 1626, vi aggiunge appendici archeologiche e comparatistiche, interessate al remoto regno dei faraoni quanto agli esotici idoli orientali e dei Nuovi Mondi.

3D Surveying and Data Management towards the Realization of a Knowledge System for Cultural Heritage

The research activities involved the application of the Geomatic techniques in the Cultural Heritage field, following the development of two themes: Firstly, the application of high precision surveying techniques for the restoration and interpretation of relevant monuments and archaeological finds. The main case regards the activities for the generation of a high-fidelity 3D model of the Fountain of Neptune in Bologna. In this work, aimed to the restoration of the manufacture, both the geometrical and radiometrical aspects were crucial. The final product was the base of a 3D information system representing a shared tool where the different figures involved in the restoration activities shared their contribution in a multidisciplinary approach. Secondly, the arrangement of 3D databases for a Building Information Modeling (BIM) approach, in a process which involves the generation and management of digital representations of physical and functional characteristics of historical buildings, towards a so-called Historical Building Information Model (HBIM). A first application was conducted for the San Michele in Acerboli’s church in Santarcangelo di Romagna. The survey was performed by the integration of the classical and modern Geomatic techniques and the point cloud representing the church was used for the development of a HBIM model, where the relevant information connected to the building could be stored and georeferenced. A second application regards the domus of Obellio Firmo in Pompeii, surveyed by the integration of the classical and modern Geomatic techniques. An historical analysis permitted the definitions of phases and the organization of a database of materials and constructive elements. The goal is the obtaining of a federate model able to manage the different aspects: documental, analytic and reconstructive ones.

Integrating structural variant calling, annotation and prioritization into whole genome analysis workflows: a practical application in the molecular diagnosis of neurodevelopmental disorders

Background: WGS is increasingly used as a first-line diagnostic test for patients with rare genetic diseases such as neurodevelopmental disorders (NDD). Clinical applications require a robust infrastructure to support processing, storage and analysis of WGS data. The identification and interpretation of SVs from WGS data also needs to be improved. Finally, there is a need for a prioritization system that enables downstream clinical analysis and facilitates data interpretation. Here, we present the results of a clinical application of WGS in a cohort of patients with NDD. Methods: We developed highly portable workflows for processing WGS data, including alignment, quality control, and variant calling of SNVs and SVs. A benchmark analysis of state-of-the-art SV detection tools was performed to select the most accurate combination for SV calling. A gene-based prioritization system was also implemented to support variant interpretation. Results: Using a benchmark analysis, we selected the most accurate combination of tools to improve SV detection from WGS data and build a dedicated pipeline. Our workflows were used to process WGS data from 77 NDD patient-parent families. The prioritization system supported downstream analysis and enabled molecular diagnosis in 32% of patients, 25% of which were SVs and suggested a potential diagnosis in 20% of patients, requiring further investigation to achieve diagnostic certainty. Conclusion: Our data suggest that the integration of SNVs and SVs is a main factor that increases diagnostic yield by WGS and show that the adoption of a dedicated pipeline improves the process of variant detection and interpretation.