32 research outputs found

    A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever.

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    Familial mediterranean fever (FMF) is an inherited autoinflammatory disorder characterized by recurrent episodes of fever and painful inflammation involving the intra-abdominal organs, the lungs and the joints, which is highly prevalent in specific ethnic groups including the Iranians. We report a 12-year-old boy from Iran, with a clinical history of recurrent fever. Based on the suggestive clinical data, mutational analysis revealed the presence of the novel c.1945C>T heterozygous variant in exon 10, which leads to a leucine to phenylalanine change at position 649 of the protein. The mutation was inherited from the mother. This novel mutation lies in exon 10 of the MEFV gene, which encodes for a domain called B30.2-SPRY, located in the C-terminal region of the pyrin protein and contains the most frequent mutations associated with FMF. The present report expands the spectrum of MEFV gene mutations associated with FMF. The uniqueness of this study, compared with other published case reports, consists in the new mutation found in the MEFV gene. In fact, new mutations in this gene are of high interest, in order to better understand the role of this gene in autoinflammation

    An overview of the Italian forest biodiversity and its conservation level, based on the first outcomes of the 4th Habitat Report ex-Art. 17

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    In 2019 the 4th Report ex-Art. 17 on the conservation status (CS) of Annex I Habitats of the 92/43/EEC Directive was expected by every EU/28 country, with reference to the period 2013-18. In Italy, the process was in charge to the Italian Institute for Environmental Protection and Research (ISPRA), on behalf of the Ministry for Environment, Land and Sea Protection (MATTM), with the scientific support of the Italian Botanical Society (SBI). A large group of thematic and territorial experts elaborated the available data concerning the 124 types of terrestrial and inland water Habitats present in Italy, 39 of which are represented by Forest Habitats (Group 9),. The main aim of the work was the evaluation of the overall CS of each Habitat by Biogeographic Region (Mediterranean, Continental and Alpine), for a total amount of 294 assessments. A high proportion of these (92, corresponding to 31% of the total) referred to Forest Habitats, including 20 marginal types for which the CS was not requested. The analysis was carried out at different scales: a) administrative territory, through the data contained in the ISPRA database, whose compilation was in charge to the Regions and Autonomous Provinces; b) Natura 2000 site, with the latest updates available (Standard Data Forms updated to 2018); c) national scale, implementing the distribution maps for each Habitat based on the European grid ETRS89-LAEA5210 (10x10 km2 mesh); d) Biogeographic Region, scale of the final assessment. Cartographic outcomes, associated databases and additional data used for the assessments will be available online on the ISPRA Portal as soon as the validation process by the European Commission will be completed. A dedicated archive named "HAB_IT" has been created in the national database "VegItaly" (1), managed by the Italian Society of Vegetation Science, where the phytosociological relevés representative of the various Annex I Habitats in Italy will be archived and freely accessible. An overview of the results regarding the Forest habitats is here provided, including a comparison with the outcomes of the former reporting cycle, the 3rd Report ex-Art. 17 (2). In several cases (e.g. 9120, 91L0), the distribution maps have been remarkably improved due to better knowledge and more fitful interpretation. The conservation status resulted as Favourable (FV) for 6,7%, Inadequate (U1) for 58,7% and Bad (U1) for 32,0% of the 72 assessed forest Habitat types. In no case there was an improvement of the conservation status, while in 6 cases a worsening of the conditions resulted from the data analysis, pointing out the Habitats types with a higher need of action. Similarly to other projects carried out as a team by the network of Annex I Habitat experts of the Italian Botanical Society and the Italian Society for Vegetation Science (e.g. 3, 4), this is another step in the direction of supporting the implementation of the 92/43/EEC "Habitat" Directive in Italy and Europe. On this ground, the high biodiversity of the Italian forest Habitats could be emphasized, however results pointed out that some rare or endemic types (e.g. Alnus cordata or Betula aetnensis-dominated forests) are still scarcely acknowledged by the most prominent EU conservation tools such as the Annex I to the "Habitat" Directive. 1) F. Landucci et al. (2012) Plant Biosyst., 146(4), 756-763 2) P. Genovesi et al. (2014) ISPRA, Serie Rapporti, 194/2014 3) E. Biondi et al. (2009) Società Botanica Italiana, MATTM, D.P.N., http://vnr.unipg.it/habitat/ 4) D. Gigante et al. (2016) Plant Sociology, 53(2), 77-8

    Notulae to the Italian native vascular flora: 4

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    In this contribution new data concerning the distribution of native vascular flora in Italy are presented. It includes new records, exclusion, extinction and confirmations to the Italian administrative regions for taxa in the genera Androsace, Artemisia, Fragaria, Melampyrum, Myosotis, Petrorhagia, Phillyrea, Rosa, Rumex, Spiranthes, Trifolium, and Vicia. Furthermore, a new combination in the genus Omalotheca is proposed

    Notulae to the Italian native vascular flora: 1

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    In this contribution, new data concerning the Italian distribution of native vascular flora are presented. It includes new records, exclusions, and confirmations pertaining to the Italian administrative regions for taxa in the genera Arundo, Bromopsis, Cistus, Crocus, Festuca, Galeopsis, Genista, Lamium, Leucanthemum, Nerium, Orobanche, Peucedanum, Pilosella, Polycnemum, Stipa and Viola

    Notulae to the Italian alien vascular flora: 1

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    In this contribution, new data concerning the Italian distribution of alien vascular flora are presented. It includes new records, exclusions, and confirmations for Italy or for Italian administrative regions for taxa in the genera Agave, Arctotheca, Berberis, Bidens, Cardamine, Catalpa, Cordyline, Cotoneaster, Dichondra, Elaeagnus, Eragrostis, Impatiens, Iris, Koelreuteria, Lamiastrum, Lantana, Ligustrum, Limnophila, Lonicera, Lycianthes, Maclura, Mazus, Paspalum, Pelargonium, Phyllanthus, Pyracantha, Ruellia, Sorghum, Symphyotrichum, Triticum, Tulbaghia and Youngia

    Proceedings of the Fifth Italian Conference on Computational Linguistics CLiC-it 2018

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    On behalf of the Program Committee, a very warm welcome to the Fifth Italian Conference on Computational Linguistics (CLiC-­‐it 2018). This edition of the conference is held in Torino. The conference is locally organised by the University of Torino and hosted into its prestigious main lecture hall “Cavallerizza Reale”. The CLiC-­‐it conference series is an initiative of the Italian Association for Computational Linguistics (AILC) which, after five years of activity, has clearly established itself as the premier national forum for research and development in the fields of Computational Linguistics and Natural Language Processing, where leading researchers and practitioners from academia and industry meet to share their research results, experiences, and challenges

    Wikiplantbase #Emilia-Romagna

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    Wikiplantbase #Emilia-Romagna è un database online che offre accesso libero a 32608 segnalazioni floristiche relative ai territori emiliano e romagnolo e varie procedure che permettono di visualizzare e sintetizzare i dati che vi sono contenuti

    Predicting Extreme-Precipitation Effects on the Geomorphology of Small Mountain Catchments: Towards an Improved Understanding of the Consequences for Freshwater Biodiversity and Ecosystems

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    In 2015 an intense rainfall event hit the Valleys of the Trebbia, Nure, and Aveto watercourses in the Northern Apennines. In about 6 h a mesoscale convective system deployed a stunning amount of precipitation of 340 mm, with an extreme hourly rainfall intensity of >100 mm/h. It triggered debris flows along slopes and stream channels, landslides and floods, which caused serious damages. Through the optimal combination of rainfall data and radar volumes, in this work we present a detailed rainfall analysis, which will serve as a basis to create a quantitative correlation with debris flows over elementary hydrological units. We aim at providing an objective basis for future predictions, starting from the recognition of the forcing meteorological events, and then arriving at the prediction of triggering phenomena and to the debris-flow type. We further provide seven observations/case studies on the effects of extreme-precipitation events on freshwater environments in small mountain catchments. Extreme-precipitation events are becoming more frequent and widespread globally but their ecological effects are still insufficiently understood. In general, the effects of extreme events on inland-waters’ ecosystems are highly context-dependent, ranging from deleterious to beneficial. We therefore highlight the necessity of further studies to characterize these effects in more depth to be able to include appropriate mitigation measures in environmental planning and stewardship
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