Physical mechanical consolidation and protection of Miocenic limestone used on Mediterranean historical monuments: the case study of Pietra Cantone (southern Sardinia, Italy)

The present work aims to study the consolidating and protective chemical treatments of the Pietra Cantone, a Miocenic (lower Tortonian) limestone widely used in important monuments and historical buildings of Cagliari (southern Sardinia, Italy). Similar limestones of the same geological period have also been used in several important monuments of Mediterranean area, i.e., Malta and Gozo Islands, Matera (central Basilicata, Italy), Lecce (southern Puglia, Italy) and Balearic Islands (Spain). The Pietra Cantone limestone shows problems of chemical–physical decay, due to their petrophysical and compositional char- acteristics: high porosity (on average 28–36 vol%), low cemented muddy-carbonate matrix, presence of phyllosil- icates and sindepositional sea salts (\3%). So, after placed in the monument, this stone is easily alterable by weath- ering chemical processes (e.g., carbonate dissolution and sulfation) and also by cyclic mechanisms of crystalliza- tion/solubilization of salts and hydration/dehydration of hygroscopic phases of the clay component. To define the mineralogical-petrographic features (composition, texture) of limestone, the clay and salt crystalline phases, the optical microscope in polarized light and diffraction anal- ysis were used. To define the petrophysical characteristics (i.e., shape and size distribution of porosity, surface area(SBET), matrix microstructures, rock composition) and interactions of chemical treatments with rock, SEM–EDS analysis and N2 porosimetry with BET and BJH methods were used. To evaluate the efficacy of Na/K-silicates, ethyl silicate consolidants and protective nano-molecular silane monomer water repellent, the mechanical strengths (uni- axial compressive strength, point load and flexural resis- tance), water/helium open porosity, water absorption and vapour permeability data determined before and after the chemical treatments of the Pietra Cantone samples from monument were compared

Assessment of origin and fate of contaminants along mining-affected Rio Montevecchio (SW Sardinia, Italy): A hydrologic-tracer and environmental mineralogy study

Hydrologic tracer techniques were applied to Rio Montevecchio (SW Sardinia, Italy), a stream affected by mine drainage, allowing the calculation of discharge and contaminant loads. Discharge along the stream showed a constant increase throughout the 2.7 km-long study reach, up to 13.6 l/s at the last synoptic point. Calculated loads of mine-related constituents were large, reaching values of 1780 kg/day for, 340 kg/day for Zn, 47 kg/day for Fe, and 50 kg/day for Mn. The difference of the cumulative instream metal loads between the first and the last synoptic sampling points indicated gains of 421 kg/day for Zn, 2080 kg/day for, 56 kg/day for Mn, and 50 kg/day for Fe. The source areas critical for contaminants loading were almost all concentrated in the first 800 meters of the stream, with the exception of Pb, whose loading occurs evenly along the whole study reach. Precipitation of secondary minerals along the streambed was responsible for a very high attenuation of Al and Fe loads (66% and 77%) and affected also and Zn loads, though less effectively. Rio Montevecchio has the second highest metal load among the rivers investigated with tracer techniques in SW Sardinia. In comparison with Rio Irvi, which has one order of magnitude higher metal loads, natural attenuation processes limit the loads in Rio Montevecchio. Results are useful to clarify the hydrogeochemical paths involved in the release and attenuation of pollutants, improving our understanding of stream responses to contamination and aiding development of site-specific remediation actions

Overexpression of the Cytokine BAFF and Autoimmunity Risk

$\textbf{BACKGROUND}$: Genomewide association studies of autoimmune diseases have mapped hundreds of susceptibility regions in the genome. However, only for a few association signals has the causal gene been identified, and for even fewer have the causal variant and underlying mechanism been defined. Coincident associations of DNA variants affecting both the risk of autoimmune disease and quantitative immune variables provide an informative route to explore disease mechanisms and drug-targetable pathways. $\textbf{METHODS}$: Using case-control samples from Sardinia, Italy, we performed a genomewide association study in multiple sclerosis followed by TNFSF13B locus-specific association testing in systemic lupus erythematosus (SLE). Extensive phenotyping of quantitative immune variables, sequence-based fine mapping, cross-population and cross-phenotype analyses, and gene-expression studies were used to identify the causal variant and elucidate its mechanism of action. Signatures of positive selection were also investigated. $\textbf{RESULTS}$: A variant in TNFSF13B, encoding the cytokine and drug target B-cell activating factor (BAFF), was associated with multiple sclerosis as well as SLE. The disease-risk allele was also associated with up-regulated humoral immunity through increased levels of soluble BAFF, B lymphocytes, and immunoglobulins. The causal variant was identified: an insertion-deletion variant, GCTGT→A (in which A is the risk allele), yielded a shorter transcript that escaped microRNA inhibition and increased production of soluble BAFF, which in turn up-regulated humoral immunity. Population genetic signatures indicated that this autoimmunity variant has been evolutionarily advantageous, most likely by augmenting resistance to malaria. $\textbf{CONCLUSIONS}$: A TNFSF13B variant was associated with multiple sclerosis and SLE, and its effects were clarified at the population, cellular, and molecular levels. (Funded by the Italian Foundation for Multiple Sclerosis and others.).Supported by grants (2011/R/13 and 2015/R/09, to Dr. Cucca) from the Italian Foundation for Multiple Sclerosis; contracts (N01-AG-1-2109 and HHSN271201100005C, to Dr. Cucca) from the Intramural Research Program of the National Institute on Aging, National Institutes of Health (NIH); a grant (FaReBio2011 “Farmaci e Reti Biotecnologiche di Qualità,” to Dr. Cucca) from the Italian Ministry of Economy and Finance; a grant (633964, to Dr. Cucca) from the Horizon 2020 Research and Innovation Program of the European Union; a grant (U1301.2015/AI.1157.BE Prat. 2015-1651, to Dr. Cucca) from Fondazione di Sardegna; grants (“Centro per la ricerca di nuovi farmaci per malattie rare, trascurate e della povertà” and “Progetto collezione di composti chimici ed attività di screening,” to Dr. Cucca) from Ministero dell’Istruzione, dell’Università e della Ricerca; grants (HG005581, HG005552, HG006513, and HG007022, to Dr. Abecasis) from the National Human Genome Research Institute; a grant (9-2011-253, to Dr. Todd) from JDRF; a grant (091157, to Dr. Todd) from the Wellcome Trust; a grant (to Dr. Todd) from the National Institute for Health Research (NIHR); and the NIHR Cambridge Biomedical Research Centre. Dr. Idda was a recipient of a Master and Back fellowship from the Autonomous Region of Sardinia

Epidemiology and clinical aspects of Werner'ssyndrome in North Sardinia: description of a cluster.

Werner syndrome (WS, MIM#277700) is a very rare autosomal recessive disorder. WS clinical signs include altered distribution of subcutaneous fat, juvenile bilateral cataracts, a mask-like face and bird-like nose, trophic ulcers of the feet, diabetes mellitus, and premature atherosclerosis. The habitus is characteristic, with short stature, stocky trunk and slender extremities. WS frequency has been roughly estimated to be 1: 100,000 in Japan and 1: 1,000,000-1: 10,000,000 outside of Japan. The only exception to the latter data can be seen in the clustering of WS in Sardinia. Since 2001, 5 new cases have been observed: 4 members of the same family and I sporadic case. Therefore, since 1982 the total number of cases described in North Sardinia amounts to 18: 15 are familial (I I members of the same family group) and 3 sporadic. A short clinical description of the 5 new cases is reported

Digitalised Legal Information:Towards a New Publication Model

This chapter outlines key developments regarding publication and communication of legal rules and standards (i.e. legal information) to show that dissemination of legal information is reliant on how we design the entire model of its publication. In doing so, it analyses paradigmatic models of publication as they appeared in the prehistorical, historical, and hyperhistorical stages of human evolution. These models demonstrate how legal information was delivered to its intended addressees, i.e. to those who were expected to obey the published laws. It also demonstrates that the progress regarding these publication models was driven by efficiency and sustainability considerations. The currently prevailing model of publication is, however, inefficient and unsustainable due to an unnecessary multiplication of intermediaries facilitating communication of legal information. This problem is even more apparent in the context of increasing digitalisation of legal information and emerging information and communication technologies (ICTs). The chapter argues that, in this light, it is appropriate to consider revising the entire publication model and not only some aspects of it. An addressee-centric publication model is outlined as a potential solution to the problem. The proposed model requires active delivery of a relevant subset of digitalised legal information to its intended addressee in a similar way as targeted online advertising. Unlike the existing research that promotes personalisation of law (personalised legal information), this chapter advocates personalisation of the publication model

Anaplastic large cell lymphoma. Sem. Diagn. Pathol

The concept of anaplastic large-cell lymphoma (ALCL) has changed over the years because of a stream of new information and novel understanding regarding the cell of origin, biology, genetics, and clinical features of these neoplasms. This new information has led to the current classification proposed by the expert reviewers of the World Health Organization. The objective of this review is to present the most updated information on the cytologic and histologic features of these entities, with a special reference to diagnostic algorithms. A detailed description of the genetic aberrations and the pathogenetic mechanisms leading to transformation is presented. The clinical features of ALCL and novel tailored strategies are briefly illustrate

Clinical corse of classic Kaposi’s sarcoma in HIV-negative patients treated with the HIV protease inhibitor indinavir.

HIV protease inhibitors (HIV-PI) have been shown to exert anti-angiogenic and anti-tumor actions independently from their antiretroviral effect. Based on these studies, HIV-seronegative patients with classic Kaposi’s sarcoma were treated with Indinavir and followed for clinical evolution, drug pharmacokinetics and KS biomarkers. A favorable clinical course was associated with high drug plasma levels, reduced production of basic fibroblast growth factor, lower numbers of circulating endothelial cell numbers, and a decrease of antibody titers against HHV8

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

A genome-wide association scan of approximately 6.6 million genotyped or imputed variants in 882 Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of CBLB gene variants with disease, which was confirmed in 1,775 cases and 2,005 controls (rs9657904, overall P = 1.60 x 10(-10), OR = 1.40). CBLB encodes a negative regulator of adaptive immune responses, and mice lacking the ortholog are prone to experimental autoimmune encephalomyelitis, the animal model of multiple sclerosis