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Background: TANK-binding kinase 1 (TBK1) gene has been recently identified as a causative gene of amyotrophic lateral sclerosis (ALS).Methods: We sequenced the TBK1 gene in a cohort of 154 Italian patients with ALS with unclear genetic aetiology. We subsequently assessed the pathogenic potential of novel identified TBK1 variants using functional in vitro studies: expression, targeting and activity were evaluated in patient-derived fibroblasts and in cells transfected with mutated-TBK1 plasmids.Results: We identified novel genomic TBK1 variants including two loss-of-function (LoF) (p.Leu59Phefs*16 and c.358+5G>A), two missense (p.Asp118Asn and p.Ile397Thr) and one intronic variant (c.1644-5_1644-2delAATA), in addition to two previously reported pathogenetic missense variants (p.Lys291Glu and p.Arg357Gln). Functional studies in patient-derived fibroblasts revealed that the c.358+5G>A causes aberrant pre-mRNA processing leading TBK1 haploinsufficiency. Biochemical studies in cellular models showed that the truncating variant p.Leu59Phefs*16 abolishes TBK1 protein expression, whereas the p.Asp118Asn variant severely impairs TBK1 phosphorylation activity. Conversely, the p.Ile397Thr variant displayed enhanced phosphorylation activity, whose biological relevance is not clear.Conclusion: The observed frequency of TBK1 LoF variants was 1.3% (2/154), increasing up to 3.2% (5/154) by taking into account also the functional missense variants that we were able to classify as potentially pathogenic, supporting the relevance of TBK1 in the Italian population with ALS. [ABSTRACT FROM AUTHOR]

Background: In Italy women aged 50-69 are invited for a population-based breast cancer (BC) screening. Physicians, policy makers and patients associations agree on the need to inform women about the benefits and harms in order to permit an informed decision. Decision aids (DA) are an effective way to support people in their decisions about health. This trial aims to assess women's informed choices, according to their health literacy and values, on participating or not in BC screening for the first time. Benefits, harms and controversies are presented.Methods/design: The impact of the DA will be evaluated in a randomized controlled trial with a two-week follow-up. Women will be randomized via web to DA or a standard brochure. We will invite 8160 women, to obtain a final sample of 816 women. The primary outcome will be informed choice, measured on the basis of knowledge, attitudes and intentions on BC screening. Secondary outcomes are participation rate, satisfaction on information and decisional conflict.Discussion: The web DA will be open-source and implemented on BC screenings and its efficacy for increasing informed choice will be tested. This model could be applied to other healthcare settings, cancer screenings, and public health programs.Trial Registration: The protocol for this trial was registered with the Clinicaltrials.gov registry on March 16, 2017: NCT03097653 . [ABSTRACT FROM AUTHOR]

Near-infrared room temperature tunable diode lasers (TDL) have recently found increased usage in atmospheric chemistry and air monitoring research, but applications in volcanology are still limited to a few examples. Here, we explored the potential of a commercial infrared laser unit (GasFinder 2.0 from Boreal Laser Ltd) for measurement of volcanic CO mixing ratios, and ultimately for estimating the volcanic CO flux. Our field tests were conducted at Campi Flegrei near Pozzuoli, Southern Italy, where the GasFinder was used during three campaigns in October 2012, January 2013 and May 2013 to repeatedly measure the path-integrated mixing ratios of CO along cross sections of the atmospheric plumes of two major fumarolic fields (Solfatara and Pisciarelli). By using a tomographic post-processing routine, we resolved, for each of the two fields, the contour maps of CO mixing ratios in the atmosphere, from the integration of which (and after multiplication by the plumes' transport speeds) the CO fluxes were finally obtained. We evaluate a total CO output from the Campi Flegrei fumaroles of ∼490 Mg/day, in line with independent estimates based on in situ (Multi-GAS) observations. We conclude that TDL technique may enable CO flux quantification at other volcanoes worldwide. [ABSTRACT FROM AUTHOR]

Lipomatous myopathy is a degenerative muscle pathology characterized by the substitution of muscle cells with adipose tissue, sporadically reported in cattle, pigs, and rarely in sheep, horses and dogs. This study investigated the pathology of this myopathy in 40 muscle samples collected from regularly slaughtered Piedmontese cattle living in Piedmont region (Italy). None of the animals showed clinical signs of muscular disease. Muscle specimens were submitted to histological and enzymatic investigations. Gross pathology revealed a different grade of infiltration of adipose tissue, involving multiple or single muscles. The most affected regions were the ventral abdomen and the shoulders, especially the cutaneous muscles and the muscles of the thoracic group. Morphological staining revealed an infiltration of adipose tissue varying in distribution and severity, changes in muscle fibre size and increased number of fibres with centrally located nuclei, suggesting muscle degeneration–regeneration. Necrosis and non-suppurative inflammatory cells were also seen. Furthermore, proliferation of connective tissue and non-specific myopathic changes were present. Chemical and physical characteristics of the affected tissue were also evaluated. The authors discuss about the aetiopathogenesis and classification of this muscle disorder whose histological lesions were similar to those reported in human dystrophies. [ABSTRACT FROM PUBLISHER]

Chemical, mineralogical and isotopic composition (34S/32S) analyses were carried out on “black crusts” developed on the old buildings of Palermo (Sicily) with the aim to distinguish between natural and anthropogenic sulphur sources. Furthermore individual samples of total suspended particulate (TSP) were collected and analysed in order to estimate the influence of air pollution on the decay process of calcareous stones in a typical southern Mediterranean coastal environment. SEM/EDS analysis, X-ray diffractometry, IR spectroscopy and liquid chromatography led to the compositional characterization of “black crusts” and airborne particulate matter in the city. Sulphur isotopic compositions of gypsum-bearing crusts showed a prevailing contribution of anthropogenic sources (vehicle exhaust and other combustion processes). Natural sulphur and/or sulphate sources (biogenic and/or sea-spray) were shown to play a secondary role. These data can be considered a starting point for the determination of the rate of growth of “black crusts” in a coastal Mediterranean urban environment like Palermo. In the future, they might be useful to local authorities for planning more efficient maintenance action in order to slow as much as possible the rate of decay of the monumental heritage of the city. [ABSTRACT FROM AUTHOR]

During a three-year discontinuous geochemical monitoring of some warm springs and cold discharges located in central-northern Sicily, some hydro-geochemical changes were observed. Excluding a possible related to a moderate seismic activity were accidentally identified. The observed anomalies showed amplitudes that were modulated by the different geometries and volumes of the feeding aquifers. A poroelastic aquifer contraction, a shaking-induced dilatancy theory as well as seismogenetic-induced changes in the properties of the aquifers have been proposed as possible mechanisms for the water flow and hydro-geochemical changes. These preliminary results could be used to design a monitoring network aimed at surveilling the seismic activity of the studied area from a geochemical standpoint. [ABSTRACT FROM AUTHOR]

Accurate and precisely located self-potential (SP), temperature (T) and CO 2 measurements were carried out in the summit area of Stromboli along 72 straight profiles. SP data were acquired every metre and T data every 2.5 m. CO 2concentrations were acquired with the same density as T, but only along seven profiles. The high density of data and the diversity of the measured parameters allows us to study structures and phenomena at a scale rarely investigated. The shallow summit hydrothermal activity (Pizzo?Fossa area) is indicated by large positive SP, T and CO 2 anomalies. These anomalies are focused on crater faults, suggesting that the fracture zones are more permeable than surrounding rocks at Stromboli. The analysis of the distribution of these linear anomalies, coupled with the examination of the geologic, photographic and topographic data, has led us to propose a new structural interpretation of the summit of Stromboli. This newly defined structural framework comprises (1) a large Pizzo circular crater, about 350 m in diameter; (2) a complex of two concealed craters nested within the Pizzo crater (the Large and the Small Fossa craters), thought to have formed during the eruption of the Pizzo pyroclastites unit; the Small Fossa crater is filled with highly impermeable material that totally impedes the upward flow of hydrothermal fluids; and (3) The present complex of active craters. On the floor of the Fossa, short wavelength SP lows are organized in drainage-like networks diverging from the main thermal anomalies and converging toward the topographic low in the Fossa area, inside the Small Fossa crater. They are interpreted as the subsurface downhill flow of water condensed above the thermal anomalies. We suspect that water accumulates below the Small Fossa crater as a perched water body, representing a high threat of strong phreatic and phreatomagmatic paroxysms. T and CO 2 anomalies are highly correlated. The two types of anomalies have very similar shapes, but the sensitivity of CO 2 measurements seems higher for lowest hydrothermal flux. Above T anomalies, a pronounced high frequency SP signal is observed. Isotopic analyses of the fluids show similar compositions between the gases rising through the faults of the Pizzo and Large Fossa craters. This suggests a common origin for gases emerging along different structural paths within the summit of Stromboli. A site was found along the Large Fossa crater fault where high gas flux and low air contamination made gas monitoring possible near the active vents using the alkaline bottle sampling technique. [ABSTRACT FROM AUTHOR]

Abstract: Mercury is outstanding among the global environmental pollutants of continuing concern. Although degassing of active volcanic areas represents an important natural source of mercury into the atmosphere, still little is known about the amount and behaviour of Hg in volcanic aquifers, especially regarding its chemical speciation. In order to assess the importance of mercury emissions from active volcanoes, thermal waters were sampled in the area surrounding La Solfatara, Pozzuoli bay. This is the most active zone of the Phlegrean Fields complex (coastal area north–west of Naples), with intense hydrothermal activity at present day. Studied groundwaters show total Hg (THg) concentrations range from 56 to 171ng/l and are lower than the 1000ng/l threshold value for human health protection fixed by the World Health Organization (WHO, 1993). We also carefully discriminated the different aqueous species of Hg in the collected water samples. Besides, original data on Hg determination in gaseous manifestations at La Solfatara crater are also reported. We measured volcanogenic mercury concentration and Hg/Stot ratio both in the volcanic plume and in fumarolic condensates in order to better constrain Hg reactivity once emitted into the atmosphere. Data on Hg/Stot reveal that there is no significant difference between Hg volcanic composition at the venting source (fumaroles) and in near-vent diluted volcanic plumes (1.6×10−5 and 1.9×10−5, respectively), suggesting that there is limited Hg chemical processing in volcanic fumarole plumes, at least on the timescales of a few seconds investigated here. Combining the mean fumaroles Hg/CO2 mass ratio of about 1.3×10−8 (molar ratio: 2.1×10−9) with the hydrothermal soil diffuse CO2 degassing of the area, the annual Hg flux from La Solfatara is estimated as 7kg y−1 (0.007t y−1). Current mercury emission from La Solfatara volcano represents a very small contribution to the estimated global volcanic budget for this element, and the estimated Hg flux is considerably lower than that estimated from open-conduit active basaltic volcanoes. [Copyright &y& Elsevier]

Abstract: This study reports on the results of a hydrogeochemical survey carried out in the Madonie area, a carbonate massif located in Palermo Province, Northern Sicily. The large dataset (226 collected sites) is used to highlight the processes controlling the distribution of dissolved chemicals in groundwaters; and, more importantly, to develop a general model (based on reaction-path modelling, and using the EQ3/6 code) of rock–water reactions in a carbonate environment. The investigated groundwater samples have conductivity between 31.7 and 8220μS/cm; their total dissolved solids (TDS) content is higher near the coast area, where the seawater contribution becomes important. Calcium and excess concentrations in groundwaters, with respect to the meteoric water–seawater mixing line, suggest that water–rock interactions in carbonate aquifers play a major role on water chemistry. Using the dataset, reaction-path modelling is used to simulate the evolution of groundwaters upon interaction with carbonate rocks. Model simulations are performed in time mode, taking into account the mineralogical composition of Madonie carbonate rocks, and the different dissolution rates of each dissolving mineral. The model results of reaction path calculations are in fair agreement with analytical data for natural waters, demonstrating the likelihood of model assumptions, and supporting further the relevance of carbonate dissolution in determining the chemistry of fluids in the investigated area. The developed model is useful for low-temperature weathering of carbonate mineral in general, and is thus likely to apply in a variety of geological contexts. [Copyright &y& Elsevier]

Abstract: Ischia volcano, in Central Italy, has long been known for its copious surface hydrothermal manifestations, signs of a pervasive circulation of hot fluids in the subsurface. Because of the significant chemical heterogeneity of fumarolic gas discharges and hot spring discharges, evidences of a complex hydrothermal setting, a definite model of fluid circulation at depth is currently unavailable, in spite of the several previous efforts. Here, we report on the chemical and isotopic composition of 120 groundwater samples, collected during several sampling surveys from 2002 to 2007. The acquired data suggest that the composition of surface manifestations reflect contributions from meteoric water, sea water, and thermal fluids rising from two distinct hydrothermal reservoir, with equilibrium temperatures of respectively ~150 °C and ~270 °C, and depths of 150–300 m and >300 m (but possibly >1000 m). We also make use of an isotopic characterization of the dissolved gas phase in thermal waters to demonstrate that the Ischia hydrothermal system is currently supplied by a deep-rising gas component (DGC), characterized by CO2 ~97.7±1.2 vol.% (on a water-free basis), δ 13CCO2 =−3.51±0.9‰, and helium isotopic ratio of about 3.5 Ra (3He/4He ratio normalized to the air ratio, R a), likely magmatic in origin. An assessment of the thermal budget for Ischia hydrothermal system is also presented, in the attempt to derive a first estimate of the size and rate of degassing of the magmatic reservoir feeding the gas emissions. We calculate that a heat flow of about 153–222 MW presently drives hydrothermal circulation on the island, which we suggest is supplied in convective form (e.g., by the ascent of a high-T magmatic vapour phase) by complete degassing of 2.2–3.3·107 m3 yr−1 of trachytic magma (with ~2.1 wt.% dissolved H2O content). If extrapolated to entire period of quiescence lasting since the Arso eruption in 1302 A.D., this volume corresponds to 1.6–2.3·1010 m3 of magma degassed in about 700 years of quiescent activity. [Copyright &y& Elsevier]

It is generally accepted, but not experimentally proven, that a quantitative prediction of volcanic eruptions is possible from the evaluation of volcanic gas data. By discussing the results of two years of real-time observation of H2O, CO2, and SO2 in volcanic gases from Mount Etna volcano, we unambiguously demonstrate that increasing CO2/SO2 ratios can allow detection of the pre-eruptive degassing of rising magmas. Quantitative modeling by the use of a saturation model allows us to relate the pre-eruptive increases of the CO2/SO2 ratio to the refilling of Etna's shallow conduits with CO2-rich deep-reservoir magmas, leading to pressurization and triggering of eruption. The advent of real-time observations of H2O, CO2, and SO2, combined with well-constrained models of degassing, represents a step forward in eruption forecasting. [ABSTRACT FROM AUTHOR]

Abstract: We report a detailed study of trace metals in groundwaters from the Somma-Vesuvius volcanic complex and present a model of the chemical processes that control the fate of these components during gas–water–rock interactions. Trace metal concentrations in Vesuvian groundwaters range from 0.01 to 0.1 μg/l for ultra-trace elements (Sb, Cs, Co, Cd, and Pb) up to 0.1–10 mg/l for minor elements (Fe and Sr), leading to water–rock ratios from ∼0.5 to 10−9 when normalized to trace element concentrations in the host rocks. Our results indicate non-isochemical dissolution of local volcanic rocks by groundwaters, during which mobile trace elements (As, Se, Mo, V, Li) are enriched and elements such as Al, Pb, Co, and Mn are depleted in the aqueous phase compared to the pristine composition of unleached rocks. Speciation computation and mineral–solution equilibria provide insights into the processes controlling the abundance and mobility of both major and trace elements in the fluids and allow quantitative modeling of gas–water–rock interactions. This latter was done using a forward reaction path model based on the principle of irreversible reactions involving minerals and aqueous solutions (Helgeson, H.C., 1968. Evaluation of irreversible reactions in geochemical processes involving minerals and aqueous solutions: I. Thermodynamic relations. Geochim. Cosmochim. Acta, 32, 853–877), and incorporating transition-state theory to account for rates of mineral dissolution reactions (Aagaard, P., Helgeson, H.C., 1982. Thermodynamic and kinetic constraints on reaction rates among minerals and aqueous solutions, 1. Theoretical considerations. Amer. J. Sci., 282, 237–285). The EQ3NR/6 software package (Wolery, T.J., 1994. EQ3NR, Letter report: EQ3/6 version 8.0. Differences from version 7. UCRL_ID_129749, Lawrence Livermore National Laboratory, Livermore, California) was used to simulate the reaction paths and the aqueous concentrations of trace elements with increasing extent of rock weathering. Fairly good matching between the modeled and analytical groundwater compositions supports the validity of our approach and provides reliable information on the main sources and sinks of trace metals during gas–water–rock interactions in the volcanic aquifer of Vesuvius. [Copyright &y& Elsevier]

This work presents the results of hydrogeochemical studies carried out at Vesuvius during the period May 1998–December 2001, mostly focusing on compositional time variations observed during this time. Based on their chemistry, groundwater samples are distinguished into two groups, 1 and 2, representative of water circulation in the southern and northern sectors of the volcano, respectively. Waters from group 1 are typically more acidic, warmer, and more saline than those of group 2. They also have higher CO2 and CH4 contents, attributed to enhanced input of deep-rising volatiles and prolonged water–rock interactions. Time-series highlight the fairly constant chemical composition of the entire aquifer. Groundwater temperature, pH, bicarbonate content and dissolved CO2 display quite stable values in the study period, particularly in deep wells (piezometric level more than 100 m deep). Shallower water bodies present more evident temporal variations, related to seasonal and anthropogenic effects. This paper also describes some important variations in water chemistry which had occurred by the time of the seismic event in early October 1999, particularly in the Olivella spring located on the northern flank of the volcano. At this site, a great decrease in water pH and redox potential, and increased dissolved CO2 contents and 3He/4He ratios were observed. These changes in chemical and isotope composition support the hypothesis of an input of magma-derived helium and carbon dioxide into the aquifer feeding the Olivella spring by the time of the earthquake. [Copyright &y& Elsevier]

A systematic survey of soil CO2 concentrations was carried out on the flanks of Somma–Vesuvius volcano in order to constrain possible pathways responsible of carbon dioxide diffuse degassing taking place during the present state of quiescence. Measurements were performed at 1162 sites in late winter–spring 2000, highlighting that soil CO2 concentrations range from 50 to 10500 ppmV. A statistical analysis was developed in order to define the threshold value of anomaly and separate the biogenic CO2 component, produced by soil respiration, from the inorganic component of deep provenance. A computer routine was also elaborated to interpret the grid of CO2 anomalous concentration values and define the actual location, orientation and length of degassing structures. The results obtained by this procedure reveal a main control of the regional stress field on the patterns of gas migration. The identified degassing lineaments are typically oriented along the Apenninic (NW–SE) and anti-Apenninic (NE–SW) trends, which are known to govern the past geological and structural evolution of the Campanian Plain and present seismicity and deformation pattern of Mount Vesuvius. A main degassing area was recognized on the eastern and southern flanks of the volcano, which likely relates to the geometry of the underlying carbonate basement, reaching its top (500 m depth) in this sector of the volcano. [Copyright &y& Elsevier]

This paper discusses the abundance, speciation and mobility of As in groundwater systems from active volcanic areas in Italy. Using literature data and new additional determinations, the main geochemical processes controlling the fate of As during gas–water–rock interaction in these systems are examined. Arsenic concentrations in the fluids range from 0.1 to 6940 μg/l, with wide differences observed among the different volcanoes and within each area. The dependence of As content on water temperature, pH, redox potential and major ions is investigated. Results demonstrate that As concentrations are highest where active hydrothermal circulation takes place at shallow levels, i.e. at Vulcano Island and the Phlegrean Fields. In both areas the dissolution of As-bearing sulphides is likely to be the main source of As. Mature Cl-rich groundwaters, representative of the discharge from the deep thermal reservoirs, are typically enriched in As with respect to SO4-rich “steam heated groundwaters”. In the HCO3− groundwaters recovered at Vesuvius and Etna, aqueous As cycling is limited by the absence of high-temperature interactions and by high-Fe content of the host rocks, resulting in oxidative As adsorption. Thermodynamic modelling suggests that reducing H2S-rich groundwaters are in equilibrium with realgar, whereas in oxidising environments over-saturation with respect to Fe oxy-hydroxides is indicated. Under these oxidising conditions, As solubility decreases controlled by As co-precipitation with, or adsorption on, Fe oxy-hydroxides. Consistent with thermodynamic considerations, As mobility in the studied areas is enhanced in intermediate redox environments, where both sulphides and Fe hydroxides are unstable. [Copyright &y& Elsevier]

This work addresses the study of fluid circulation of the Stromboli island using a dense coverage of self-potential (SP) and soil CO2 data. A marked difference exists between the northern flank and the other flanks of the island. The northern flank exhibits (1) a typical negative SP/altitude gradient not observed on the other flanks, and (2) higher levels of CO2. The general SP pattern suggests that the northern flank is composed of porous layers through which vadose water flows down to a basal water table, in contrast to the other flanks where impermeable layers impede the vertical flow of vadose water. In the Sciara del Fuoco and Rina Grande–Le Schicciole landslide complexes, breccias of shallow gliding planes may constitute such impermeable layers whereas elsewhere, poorly permeable, fine-grained pyroclastites or altered lava flows may be present. This general model of the flanks also explains the main CO2 patterns: concentration of CO2 at the surface is high on the porous north flank and lower on the other flanks where impermeable layers can block the upward CO2 flux. The active upper part of the island is underlain by a well-defined hydrothermal system bounded by short-wavelength negative SP anomalies and high peaks of CO2. These boundaries coincide with faults limiting ancient collapses of calderas, craters and flank landslides. The hydrothermal system is not homogeneous but composed of three main subsystems and of a fourth minor one and is not centered on the active craters. The latter are located near its border. This divergence between the location of the active craters and the extent of the hydrothermal system suggests that the internal heat sources may not be limited to sources below the active craters. If the heat source strictly corresponds to intrusions at depth around the active conduits, the geometry of the hydrothermal subsystems must be strongly controlled by heterogeneities within the edifice such as craters, caldera walls or gliding planes of flank collapse, as suggested by the correspondence between SP–CO2 anomalies and structural limits. The inner zone of the hydrothermal subsystems is characterized by positive SP anomalies, indicating upward movements of fluids, and by very low values of CO2 emanation. This pattern suggests that the hydrothermal zone becomes self-sealed at depth, thus creating a barrier to the CO2 flux. In this hypothesis, the observed hydrothermal system is a shallow one and it involves mostly convection of infiltrated meteoric water above the sealed zone. Finally, on the base of CO2 degassing measurements, we present evidence for the presence of two regional faults, oriented N41° and N64°, and decoupled from the volcanic structures. [Copyright &y& Elsevier]

Introduction: The COVID-19 outbreak highly impacted the acute ischemic stroke care management. The primary end point of the study was to evaluate the impact of the COVID-19 outbreak and the following lockdown measures on our hub-and-spoke network; the secondary end point was to evaluate if the impact of the COVID-19 outbreak was different in hub-and-spoke centers., Methods: This was a retrospective multicenter observational study conducted at the Stroke Units of Policlinico Gemelli, Ospedale San Filippo Neri, Ospedale di Belcolle, and Ospedale San Camillo de Lellis. We collected clinical reports of all consecutive patients admitted with diagnosis of acute ischemic stroke or transient ischemic attack (TIA) during the phase 1 of the lockdown period (11 March 2020-4 May 2020). As controls, we used all consecutive patients admitted for acute ischemic stroke or TIA in the same period of the previous year., Results: A total of 156 and 142 clinical reports were collected in 2019 and 2020, respectively. During the COVID-19 outbreak, we observed a reduction of number of thrombolysis, a reduction of the length of hospitalization, and an increase of pneumonia. Regarding performance indicators, we observed an increase in onset-to-door time and in door-to-groin time. We did not observe any statistically significant interaction between year (2019 vs 2020) and facility of admission (hub vs spoke) on all variables analyzed., Discussion: Our observational study, involving hub-and-spoke stroke network of a wide regional area, indicates that the COVID-19 outbreak impacted on the acute stroke management. This impact was equally observed in hub as well as in spoke centers.

The prevalence of IgG antibodies to Bordetella pertussis in a sample of 615 1-12-year-old unvaccinated children in Palermo was estimated by ELISA. The overall prevalence was 56%; it increased from 24% in one to three-year-old children to 67% in 11-12-year-old children (p less than 0.01). IgG antibody prevalence was not associated with the father's years of schooling (OR 1), nor with the family size (OR 1.3; C.I. 95% = 0.8-2.2). For children aged one the three years, serological results showed that the history of pertussis reported by parents in questionnaires gave high specificity (93.2%) and negative predictive value (85.4%). Our seroepidemiological study evidences a great exposure of children to B. pertussis in Palermo, with a high proportion of infections occurring after three years of age.