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Among multiple sclerosis (MS) susceptibility genes, the strongest non-human leukocyte antigen (HLA) signal in the Italian population maps to the TNFSF14 gene encoding LIGHT, a glycoprotein involved in dendritic cell (DC) maturation. Through fine-mapping in a large Italian dataset (4,198 patients with MS and 3,903 controls), we show that the TNFSF14 intronic SNP rs1077667 is the primarily MS-associated variant in the region. Expression quantitative trait locus (eQTL) analysis indicates that the MS risk allele is significantly associated with reduced TNFSF14 messenger RNA levels in blood cells, which is consistent with the allelic imbalance in RNA-Seq reads (P < 0.0001). The MS risk allele is associated with reduced levels of TNFSF14 gene expression (P < 0.01) in blood cells from 84 Italian patients with MS and 80 healthy controls (HCs). Interestingly, patients with MS are lower expressors of TNFSF14 compared to HC (P < 0.007). Individuals homozygous for the MS risk allele display an increased percentage of LIGHT-positive peripheral blood myeloid DCs (CD11c + , P = 0.035) in 37 HCs, as well as in in vitro monocyte-derived DCs from 22 HCs (P = 0.04). Our findings suggest that the intronic variant rs1077667 alters the expression of TNFSF14 in immune cells, which may play a role in MS pathogenesis., Competing Interests: Conflict of interest For the following authors this is the conflict of interest statement. No conflict of interest for all the other authors. Prof. Filippi is Editor-in-Chief of the Journal of Neurology, Associate Editor of Human Brain Mapping, Associate Editor of  Radiology, and Associate Editor of Neurological Sciences; received compensation for consulting services and/or speaking activities from Alexion, Almirall, Bayer, Biogen, Celgene, Eli Lilly, Genzyme, Merck-Serono, Novartis, Roche, Sanofi, Takeda, and Teva Pharmaceutical Industries; and receives research support from Biogen Idec, Merck-Serono, Novartis, Roche, Teva Pharmaceutical Industries, Italian Ministry of Health, Fondazione Italiana Sclerosi Multipla, and ARiSLA (Fondazione Italiana di Ricerca per la SLA). Dr. Gajofatto received fees from Biogen and Merck to participate in advisory boards. Dr. Vittorio Martinelli received compensation for speaking and/or for consultancy and support for travel expenses and participation in Congresses from Biogen, Merck-Serono, Novartis, Roche, Genzyme and Teva Pharmaceutical Industries. Prof. Filippo Martinelli Boneschi has received compensation for consulting services and/or speaking activities from Teva Pharmaceutical Industries, Sanofi Genzyme, Merck-Serono, Biogen Idec, Roche, Medday, Excemed, and received research support from Merck, Teva Pharmaceutical Industries, Italian Ministry of Health, Fondazione Italiana Sclerosi Multipla and Fondazione Cariplo., (Copyright © 2021 Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, and Genetics Society of China. Published by Elsevier Ltd. All rights reserved.)

The growing number of patients affected by neurodegenerative disorders represents a huge problem for healthcare systems, human society, and economics. In this context, omics strategies are crucial for the identification of molecular factors involved in disease pathobiology, and for the discovery of biomarkers that allow early diagnosis, patients' stratification, and treatment response prediction. The integration of different omics data is a required step towards the goal of personalized medicine. The Italian proteomics community is actively developing and applying proteomics approaches to the study of neurodegenerative disorders; moreover, it is leading the mitochondria-focused initiative of the Human Proteome Project, which is particularly important given the central role of mitochondrial impairment in neurodegeneration. Here, we describe how Italian research groups in proteomics have contributed to the knowledge of many neurodegenerative diseases, through the elucidation of the pathobiology of these disorders, and through the discovery of disease biomarkers. In particular, we focus on the central role of post-translational modifications analysis, the implementation of network-based approaches in functional proteomics, the integration of different omics in a systems biology view, and the development of novel platforms for biomarker discovery for the high-throughput quantification of thousands of proteins at a time. [ABSTRACT FROM AUTHOR]

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The assessment of groundwater vulnerability is an important aspect of territorial planning aimed at the management and protection of groundwater quality. This topic is particularly relevant for the Campania region (southern Italy) due to the abundance of groundwater resources and the strong dependence on them of current economic, social and environmental settings. The region is characterized by complex geological, structural and hydrogeological frameworks which make challenging and innovative the assessment of groundwater vulnerability with SINTACS, a parametric method officially recognized by the Italian environmental agencies. In order to apply results obtained to current regional regulations, groundwater vulnerability was estimated for the 80 principal aquifers, hosting respective groundwater bodies, as recognized by the application of the Directive 2000/60/EC. Among principal results, the alluvial and limestone (karst) aquifers, which are the most productive of the region, show the highest groundwater vulnerability, even with spatially variable conditions depending on local hydrogeological features. [ABSTRACT FROM AUTHOR]

River deltas are very complex environments vulnerable to flooding. Most of the world's deltas are facing the immediate threat of land subsidence that jeopardizes the safety of millions of people worldwide. In Italy, the Po River Delta (PRD) (Northeast Italy) is an area historically affected by high rate of subsidence due to natural and anthropic factors. Even if the subsidence rates remarkably reduced during the last three decades, this process continues to be alarming in particular in low-lying sectors and along the coastline, where the loss of elevation, combined with the sea-level rise, increases the risk related to flooding. In this study, we monitored the subsidence affecting the entire PRD area with advanced differential interferometric synthetic aperture radar (A-DInSAR) techniques applied to three C-band SAR data sets acquired by the European Remote Sensing satellites, Environmental Satellite, and Sentinel-1A satellite in the last 25 years (from 1992 to 2017). The results of the interferometric processing, consisting of both mean velocity and displacement time series along the satellite line of sight, validated by comparison with levelling and global positioning system measurements, show increasing subsidence moving from the inland to the coastline, with maximum deformation velocities, for the most recent data, in the order of −30 mm year−1. In particular, many embankments near the coastal area are affected by high values of subsidence, which increase the flooding hazard of the entire deltaic territory. This work shows the importance of adopting A-DInSAR techniques to update the knowledge of the extent and rates of deformation of subsiding areas in low-lying territories such as river deltas. The outputs of such monitoring can be of primary importance for the future protection of the territory and the flooding risk mitigation. [ABSTRACT FROM AUTHOR]

Background: Gender differences in chronic liver disease (CLD) have been partially investigated. To extend the present knowledge, we evaluated 12,263 patients with CLD enrolled in two national surveys (9997 in 2001 and 2557 in 2014).Methods: The two surveys prospectively recruited patients aged ≥ 18 referring to Italian liver units throughout the country using a similar clinical approach and analytical methods.Results: The overall male to female ratio (M/F) was 1.4 (7138/5124). Compared with females, males were significantly more likely to be younger (52.9 vs. 58.7 yrs.), with HBV infection alone (13.2% vs. 9.2%) and with alcoholic liver disease alone (11.4% vs. 6.9%), but less likely to show HCV infection alone (48.0% vs. 67.9%). A male preponderance was observed in HBV-related cases (1.99) and in alcoholic-related cases (2.3), a preponderance observed both in the 2001 and in 2014 cases. In HCV-related cases, however, females predominated in 2001 (M/F 0.9) and males in 2014 (M/F 1.5).The rate of cirrhosis in alcohol-related etiology was close to 36% in both genders, a finding much higher than that observed for both sexes in HBV and HCV etiologies.Both males and females enrolled in 2014 were older (p < 0.001) and with a higher rate of cirrhosis and/or HCC (p < 0.001) than those investigated in 2001. There was a remarkable increase over time in the proportion of male abstainers (36.7% in 2001 and 64.3% in 2014).Conclusion: This study highlights important inter- and intra-gender differences in the characteristics and etiological factors of patients with CLD in Italy. [ABSTRACT FROM AUTHOR]

Amidst the research on the psycho-behavioral factors correlating with alcohol abuse, numerous studies have identified psychopathological disorders and alexithymic traits in adult alcohol abusers, but this relationship has yet to be studied in adolescents. To a sample of 1,466 students (mean age of 13.5 years) were administered three questionnaires to assess their alcohol consumption, any alexithymic traits, and any psycho-behavioral problems. There was an association between alcohol consumption and psycho-behavioral problems in the sample as a whole, but a statistically significant relationship between alcohol consumption and alexithymia only in the subsample of students attending middle school (sixth to eighth graders). Among these younger adolescents (11 to 13 years old), those with a higher score for alexithymia and psycho-behavioral problems had a significantly greater alcohol consumption than their peers without these psychological traits. Alexithymic traits, especially when associated with psycho-behavioral problems, constitute a risk factor for alcohol consumption in preadolescence. [ABSTRACT FROM PUBLISHER]

This paper focuses on whether the on-going dramatic decrease in alcohol consumption in Italy, especially of wine, during 1961-2008, was associated with which parallel sociodemographic and economic changes and with alcohol control policies. The study, using both time series (TS) and artificial neural network (ANN)-based analyses documents that its selected sociodemographic and economic factors, and particularly urbanization, had a definite connection with wine consumption decrease, spirits decrease, and the increase in beer consumption over time. On the other hand, control policies showed no effect on the decline in alcohol consumption, since no alcohol control policy existed in Italy between 1960 and 1987. A few policies introduced since 1988 (BAC and sale restrictions during mass events) may have contributed to reducing or to maintaining the on-going reduction. Study limitations are noted and future needed research is suggested. [ABSTRACT FROM AUTHOR]