Search Results (2,118)

Hereditary breast cancer accounts for 5–10% of all cases, with pathogenic variants in BRCA1/2 and other susceptibility genes playing a crucial role. This study elucidates the prevalence and spectrum of germline variants in 13 cancer predisposition genes among high—risk hereditary breast cancer patients from Southern Italy. We employed next-generation sequencing (NGS) to analyze 254 individuals selected through genetic counseling. Pathogenic or likely pathogenic variants were identified in 13% (34/254) of patients, with 54% of these variants occurring in non-BRCA1/2 genes. Notably, we observed a recurrent BRCA1 c.4964_4982del founder mutation, underscoring the importance of population-specific genetic screening. The spectrum of variants extended beyond BRCA1/2 to include PALB2, ATM, TP53, CHEK2, and RAD51C, highlighting the genetic heterogeneity of breast cancer susceptibility. Variants of uncertain significance were detected in 20% of patients, emphasizing the ongoing challenge of variant interpretation in the era of multi-gene panel testing. These findings not only enhance our understanding of the genetic landscape of breast cancer in Southern Italy but also provide a foundation for developing more targeted, population-specific approaches to genetic testing and counseling, ultimately contributing to the advancement of precision medicine in oncology. Full article

Foodborne diseases result from the consumption of foods contaminated with pathogens or their toxins and represent a serious public health problem worldwide. This study aimed to assess the presence of Rotavirus (RoV), Adenovirus (AdV), Norovirus (NoV), Hepatitis A and Hepatitis E viruses (HAV and HEV, respectively), Toxoplasma gondii, Coxiella burnetii and Leptospira spp. across various food matrices in Sicily. The analysis concerned 504 samples, including mussels, farmed meat, game meat, vegetables and bulk milk. Following appropriate pre-treatment, acid nucleic extraction was carried out and amplification of pathogen nucleic acids was carried out by molecular methods. The mussels tested positive for NoVs (3/51, 5.9%) and farm meat resulted positive for T. gondii (1/34, 2.9%). The game offal samples tested positive for HEV, which was detected in 17 out of 222 samples (7.7%), and T. gondii (18/318, 5.7%) and Leptospira spp. (2/318, 0.6%). The milk samples tested positive for C. burnetii (15/85, 17.6%), T. gondii (2/85, 2.4%) and Leptospira spp. (1/85, 1.2%). This study highlights the variability in the risk of contamination of different food matrices, confirming the importance of vigilance in the consumption of potentially contaminated food products. Full article

Background/Objectives: Chronic kidney disease (CKD) and end-stage kidney disease (ESKD) are significant public health issues, with cardiovascular morbidity and mortality being the leading causes of death in hemodialysis patients. Osteopontin (OPN), a multifunctional glycoprotein, has emerged as a potential biomarker for vascular disease in CKD due to its role in inflammation, tissue remodeling, and calcification. Methods: This cohort study included 1124 hemodialysis patients from the PROGREDIRE study, a registry involving 35 dialysis units in Southern Italy. Serum osteopontin levels were measured using enzyme-linked immunosorbent assay (ELISA). The primary endpoints were all-cause and cardiovascular mortality. Multivariate Cox regression analyses were performed to assess the association between osteopontin levels and mortality, adjusting for traditional risk factors, biomarkers of inflammation, nutritional status, and ESKD-related factors. Results: During a mean follow-up of 2.8 years, 478 patients died, 271 from cardiovascular causes. Independent correlates of osteopontin included alkaline phosphatase and parathyroid hormone. Elevated osteopontin levels were significantly associated with increased all-cause mortality (HR 1.19, 95% CI 1.09–1.31, p < 0.001) and cardiovascular mortality (HR 1.22, 95% CI 1.08–1.38, p = 0.001) after adjusting for confounders. Conclusions: Elevated osteopontin levels are associated with increased all-cause and cardiovascular mortality in hemodialysis patients. These findings implicate osteopontin in the high risk for death and cardiovascular disease in the hemodialysis population. Intervention studies are needed to definitively test this hypothesis. Full article

Rill erosion is a major issue on a global scale, and predicting the presence, position, and development of erosive forms on hillslopes is a significant challenge for the scientific community. Several plot-scale investigations confirmed the reliability of the terrestrial photogrammetric (TP) technique for studying rill erosion and the reliability of a method for extracting the rill network from Digital Surface Models (DSMs) and measuring the corresponding volume. In this paper, for an intense erosive event that occurred at the Sparacia experimental area (Sicily, Southern Italy), TP surveys of three plots, with different length and steepness, incised by rills, were performed to reconstruct the DSMs. For each plot, the rill network was extracted from the DSMs, and the non-contributing network was distinguished from the contributing one, from which the soil loss and the consequent eroded volumes V were determined. The specific aims were to (i) establish the effect of plot steepness on rill depths and some morphometric characteristics of the drainage rill network; (ii) test and calibrate the relationship between V and the total rill length L, using all rill measurements available in the literature and those obtained in this study; and (iii) modify the V–L relationship by including climate forcing and assessing the related performance. The rill depths, h, the drainage frequency, and drainage density of the rill networks detected in the three plots were compared. The analysis demonstrated that h and the morphometric parameters of the contributing rill network increase with plot steepness s. In particular, the mean depth increases from 2.79 to 4.85 cm for slope increasing from 14.9 to 26%. Moreover, the drainage frequency of the contributing rill network varies from 0.16 m⁻² for s = 14.9% to 0.47 m⁻² for s = 26%, while the drainage density of the contributing rill network varies from 0.92 m⁻¹ for s = 14.9% to 2.1 m⁻¹ for s = 26%. Finally, using the data available in the literature and those obtained in this investigation, an empirical relationship between V and the total rill length L was firstly tested and then rearranged considering the event rainfall erosivity R_e. Including R_e in the rearranged equation guaranteed the best performance in V estimation. Full article

We analyze the variation in groundwater budget by modeling an aquifer in a semi-arid region in southern Italy, using different good pumping scenarios. This aquifer is overexploited due to the agricultural vocation of the area. We propose an integrated method to assess the distribution of hydrogeological parameters and the recharge rates. The hydrogeological parametrization is performed through a hydrostratigraphic approach using the geostatistical tool. Recharge rates are computed through a soil water balance application, using different monitoring stations over the area for the whole period of interest. Integrating the results of this analysis with pumping scenarios based on the water irrigation requirement of the main crops in the area, different water budgets are estimated. The results show how different pumping scenarios affect the availability of water resources and thus underline the importance of management. This integrated hydrogeological model can be applied to other areas with similar hydrogeological characteristics, and it can be considered a valuable tool for evaluating sustainable groundwater management strategies, considering land use practices and socio-economic factors. Full article

Campanula fragilis Cirillo is a species distributed in central and southern Italy and includes two subspecies with uncertain taxonomic position and distribution. By means of nuclear and chloroplast markers, we attempted at testing the genetic distinctness of the two subspecies, as well as their possible correspondence with geographical or ecological patterns. After a revision of geographic occurrences based on herbarium data, we carried out species distribution modeling to assess the present and future distribution of this species under different ecological variables, also for conservation purposes. Our findings support the recognition of two weakly differentiated taxa, here accepted at subspecific rank, in agreement with the current taxonomic treatment. We found that C. fragilis subsp. cavolinii is monophyletic and limited to mountains and hills of central Italy. On the contrary, C. fragilis subsp. fragilis shows a higher genetic variability and a broader distribution in central and southern Italy, with a wider altitudinal range from coasts to mountain cliffs. We confirmed that both subspecies are narrowly calcicolous and have similar ecological requirements, but C. fragilis subsp. cavolinii occurs in colder habitats. Our results forecast a significant distribution contraction in the long term. Full article

Campi Flegrei (Southern Italy) is the largest volcanic caldera in Europe and one of the most densely inhabited all over the world. The Campi Flegrei region has been populated for millennia and has been well known for the episodic periods of uplift, subsidence and seismicity since Roman times. Nevertheless, also due to the long time that has passed since the last eruption, the population’s awareness of living in a high-risk area is quite limited. Furthermore, spatial and emergency planning in this area has been long neglected and often ineffective. Hence, following a brief description of the most recent volcanic events occurred in Campi Flegrei, this paper provides an overview of the emergency and spatial plans and of the risk communication activities so far implemented. Then, the results of a survey carried out in the last year highlight the main gaps in hazard and risk awareness as well as in the knowledge of the Disaster Risk Management (DRM) system. A comparison of the survey’s outcomes with those of a previous one, published in 2013, allows for the understanding if residents’ risk perception and awareness have changed due to the still on-going unrest phase. The outcomes of the survey may be useful to drive local authorities towards more integrated policies to improve resilience to disasters and implement holistic DRM at all levels, in line with goal 11, target 11.9 of the Sustainable Development Goals (SDGs). Full article

(1) Background: A preliminary investigation of Protected Designation of Origin (PDO) wines (red and rosé) produced from Negroamaro grapes—a native Salento (Apulia, Southern Italy) vine that is part of the Salice s.no PDO area—was performed in this work. (2) Methods: ¹H-NMR spectroscopy, in combination with multivariate statistical analysis (MVA), was employed to characterize the metabolic profiles of 39 wine samples. Spectrophotometric methods were used to obtain preliminary information on the phenolic composition of wines and the associated antioxidant activity. The HepG2 liver cell line was used to assess the biological activity (effect on cell viability and genotoxicity activity) of wine samples. (3) Results: The NMR spectra analysis revealed the presence of signals ascribable to phenolic compounds such as gallic, hydroxycinnamic, and syringic acids. Relative content of these metabolites has been shown to be higher in red than in rosés wines and related to the wine producers. Interestingly, a similar pattern was observed in biological analyses. Red wines compared to the rosé wines display great variations in antioxidant capacity when evaluated as fresh samples using the DPPH and ORAC methods. Furthermore, all red wines exhibited a concentration-dependent decrease in cellular viability and live cells; this phenomenon is much less pronounced in rosé wines. (4) Conclusions: The resulting findings from this study reveal that winemaking operations could lead to final products with different chemical compositions and related properties. Even when starting from the same crop variety and cultivation region, significant differences were observed in the wine samples NMR-metabolic profiles and in vitro biotoxicological activity. Full article

Formaldehyde (HCHO) is harmful to human health and an adequate assessment of its concentrations, both in outdoor and indoor environments, is necessary in the context of sustainable policies designed to mitigate health risks. In this research, ground indoor and outdoor HCHO measurements are integrated with the analysis of tropospheric total columns obtained by satellite surveys to assess the concentrations of HCHO in a number of environments, exploiting the proximity of a World Meteorological Organization—Global Atmosphere Watch (WMO/GAW) observation site in Calabria, Southern Italy to a National Institute for Insurance against Accidents at Work (INAIL) department in the municipality of Lamezia Terme. The meteorological parameters used by the WMO station are also used to provide additional data and test new correlations. Using statistical significance tests, this study demonstrates the presence of a correlation between indoor and outdoor HCHO concentrations, thus showing that an exchange between indoor and outdoor formaldehyde does occur. Rooms located in the local INAIL building where indoor measurements took place also demonstrate degrees of susceptibility to HCHO exposure, which are correlated with the orientation of prevailing wind corridors in the area. The new findings constitute an unprecedented characterization of HCHO hazards in Calabria and provide regulators with new tools with which to mitigate formaldehyde-related risks. Full article

The Quaternary Mercure basin is a complex fault structure located in the Pollino region of the southern Apennines (Italy). A persistent seismic gap makes the Mercure basin structure one of Italy’s highest seismic risk zones. The southernmost termination of the Mercure basin is the Timpa della Manca fault. The fault’s mirror is characterised by distinctive, lineated, black-coloured striae decorating a cataclasite made of carbonate clasts. These black-coloured striae consist of a mixture of Mn phases, including hollandite, todorokite, birnessite, and orientite, which are associated with goethite and hematite along with minor amounts of phyllosilicates (chlorite, muscovite), quartz, and sursassite. This mineral association and their phase stability suggest that hydrothermal circulating fluids may have mobilised and re-precipitated low-temperature Mn hydrous phases within the shear zone, leaving remnants of higher-temperature minerals. Oceanic crust remnant blocks within the Frido Unit appear to be the most likely source of the Mn. The uniqueness of the Mn striae on the Timpa della Manca fault offers intriguing insights into fluid circulation within the Mercure basin tectonic system, with potential implications for the seismotectonic characteristics of the Pollino region. Full article

This paper examines the influence of emotions on political polarization, looking at online propagation of conspiracy thinking by extreme right movements in Southern Europe. Integrating insights from psychology, political science, media studies, and system theory, we propose the ‘polarization loop’, a causal mechanism explaining the cyclical relationship between extreme messages, emotional engagement, media amplification, and societal polarization. We illustrate the utility of the polarization loop observing the use of the Great Replacement Theory by extreme right movements in Italy, Portugal, and Spain. We suggest possible options to mitigate the negative effects of online polarization in democracy, including public oversight of algorithmic decission-making, involving social science and humanities in algorithmic design, and strengthening resilience of citizenship to prevent emotional overflow. We encourage interdisciplinary research where historical analysis can guide computational methods such as Natural Language Processing (NLP), using Large Language Models fine-tunned consistently with political science research. Provided the intimate nature of emotions, the focus of connected research should remain on structural patterns rather than individual behavior, making it explicit that results derived from this research cannot be applied as the base for decisions, automated or not, that may affect individuals. Full article

Coralligenous bioconstructions are a key Mediterranean ecosystem for their associated biodiversity and role in the blue carbon cycle. They are also sensitive to environmental alterations (e.g., climate change) and other anthropic impacts related to coastal anthropization (e.g., fishing activities). Marine-coastal zone protection, conservation programs and management strategies are essential to guarantee a good ecological status of the coralligenous habitat. In this context, environmental and ecosystem accounting are useful tools to measure natural capital stocks and ecosystem service flows associated with marine ecosystems, conveying their importance in scientific and policy contexts. Indeed, the importance of marine ecosystems is often overlooked due to the difficulty of expressing their value in common units, making it challenging for decision-makers to explore trade-offs between conservation and exploitation of marine ecosystems. In this study, a biophysical and trophodynamic environmental accounting model was used to assess the biophysical value of natural capital stocks of the coralligenous habitat in three Marine Protected Areas (MPAs) of the Campania Region (Southern Italy): Punta Campanella, Santa Maria di Castellabate, and Costa degli Infreschi e della Masseta. The natural capital value per unit area associated with the coralligenous habitat ranged from 2.44 × 10¹² to 4.72 × 10¹² sej m⁻² for Santa Maria di Castellabate and Punta Campanella, respectively. Despite the different intensive values of natural capital calculated for the MPAs, there were no significant differences both in the biomass values of the taxonomic groups and in the biomass-based Shannon diversity index. Additionally, the biophysical values were also converted into monetary units, with the aim of facilitating the understanding of the importance of natural stocks in socio-economic and political contexts. The economic equivalent of natural capital value refers to the total extent of the coralligenous habitat and ranged from about EUR 1 to 15 million for Costa degli Infreschi e della Masseta and Santa Maria di Castellabate, respectively. The results of this study could be useful for local managers and policy makers and may make them more likely to achieve biodiversity conservation and sustainable development goals in MPAs. This is the first study devoted to the assessment of natural capital value of coralligenous habitats. Future studies could complement the results of this study with biophysical and economic assessments of ecosystem service flows generated by coralligenous habitats, focusing on the role they play in human well-being. Full article

Deep-Seated Gravitational Slope Deformations (DSGSDs) are common in many geological environments, and due to their common limited displacement rate, they can remain unrecognized for a long time. Among the most significant events in Sicily is the Mt. San Calogero DSGSD. To contribute to a better understanding of its characteristics, including the geologic setting promoting its development, ongoing kinematics, and mechanism, a specific analysis was completed. In this paper, the results of this analysis, based on a three-folded strategy, are provided and interpreted in the context of DSGSD predisposing conditions and controlling factors. Especially, field observations associated to visual interpretation of aerial imagery were used for the identification and mapping of main geological features and landforms, high-resolution X-Band DInSAR data enabled researchers to fully characterize the deformational behavior of the slope, while a reduced complexity slope stability analysis allowed them to reconstruct the deep geometry of the DSGSD. Results from the analysis indicate that the DSGSD of Mt. San Calogero is composed of three blocks corresponding to fault-bounded tectonic elements and characterized by a specific kinematics and sensitivity to external forcing (i.e., rainfall), multiple landslides are associated to the DSGSD in the area and the deep geometry of the DSGSD is concave upward and resemble the characteristics of a rotational slide. The interpretation of the results suggests that the formation and the deformation of the Mt. San Calogero DSGSD are linked with the local and regional fault systems related to the Sicilian orogen, while shallow landslides are triggered, in clayey terrains, mostly by rainfalls. In addition, the integrated approach reveals that active tectonics and rainfalls in the San Calogero massive relief are the main driving forces of its different deformation behavior. Full article

The recent revision of Italian legislation on nature conservation has highlighted the pressing necessity of elucidating the native distribution range of managed species. A recent study by Antognazza et al. (Current and Historical Genetic Variability of Native Brown Trout Populations in a Southern Alpine Ecosystem: Implications for Future Management. Fishes 2023, 8, 411) provides insights into the native status of brown trout in the Lombardy Prealps, northern Italy, and advocates urgent conservation measures. However, the possible effect of historical and recent anthropogenic impacts was dismissed in the paper. Here, we present how human-mediated activities plausibly might contribute to the observed distribution of population genetic variation, considering both the available literature and ongoing “Mediterranean trout” stocking activities in the region. Implementing management strategies without clear scientific evidence poses significant risks to native biodiversity conservation. Full article

This study aims to assess temperature variations caused by ongoing climate change in the Basilicata region, southern Italy—Ionian side of the Gulf of Taranto—on the territory of the Matera DOP vineyard. In particular, it aims to assess the influence of the sea on temperature trends, and particularly to its “mitigating effect” in the context of ongoing climate change. Temperature trends were analyzed using ERA5-Land data from 1981 to 2022 and data from weather stations of the Lucanian Agency for Development and Innovation in Agriculture from 2000 to 2023. Temperature trends were studied considering both the period of the vegetative-productive season of the vineyards and the whole year. The results of this study show that, for the historical period analyzed, the Matera DOP area showed a significant upward trend in temperatures, particularly in the inland areas. This increase, especially for minimum temperatures, is more evident at higher elevations than at lower elevations near the sea. Indeed, coastal areas benefit from the thermoregulatory effect of the Ionian Sea, which moderates temperature increases at lower elevations. It follows that the Matera DOP wine-growing areas, and particularly those furthest from the coastal strip, will have to adapt to harsh climatic conditions that will certainly affect the quality and typicality of the wines. Full article