Genotype-Phenotype Correlation in a Family with Brugada Syndrome Harboring the Novel p.Gln371* Nonsense Variant in the SCN5A Gene

Brugada syndrome (BrS) is marked by coved ST-segment elevation and increased risk of sudden cardiac death. The genetics of this syndrome are elusive in over half of the cases. Variants in the SCN5A gene are the single most common known genetic unifier, accounting for about a third of cases. Research models, such as animal models and cell lines, are limited. In the present study, we report the novel NM_198056.2:c.1111C>T (p.Gln371*) heterozygous variant in the SCN5A gene, as well as its segregation with BrS in a large family. The results herein suggest a pathogenic effect of this variant. Functional studies are certainly warranted to characterize the molecular effects of this variant

25 years of satellite InSAR monitoring of ground instability and coastal geohazards in the archaeological site of Capo Colonna, Italy

For centuries the promontory of Capo Colonna in Calabria region, southern Italy, experienced land subsidence and coastline retreat to an extent that the archaeological ruins of the ancient Greek sanctuary are currently under threat of cliff failure, toppling and irreversible loss. Gas extraction in nearby wells is a further anthropogenic element to account for at the regional scale. Exploiting an unprecedented satellite Synthetic Aperture Radar (SAR) time series including ERS-1/2, ENVISAT, TerraSAR-X, COSMO-SkyMed and Sentinel-1A data stacks acquired between 1992 and 2016, this paper presents the first and most complete Interferometric SAR (InSAR) baseline assessment of land subsidence and coastal processes affecting Capo Colonna. We analyse the regional displacement trends, the correlation between vertical displacements with gas extraction volumes, the impact on stability of the archaeological heritage, and the coastal geohazard susceptibility. In the last 25 years, the land has subsided uninterruptedly, with highest annual line-of-sight deformation rates ranging between -15 and -20 mm/year in 2011-2014. The installation of 40 pairs of corner reflectors along the northern coastline and within the archaeological park resulted in an improved imaging capability and higher density of measurement points. This proved to be beneficial for the ground stability assessment of recent archaeological excavations, in an area where field surveying in November 2015 highlighted new events of cliff failure. The conceptual model developed suggests that combining InSAR results, geomorphological assessments and inventorying of wave-storms will contribute to unveil the complexity of coastal geohazards in Capo Colonna. © (2016) COPYRIGHT Society of Photo-Optical Instrumentation Engineers (SPIE). Downloading of the abstract is permitted for personal use only

Use of DInSAR technique for the integrated monitoring of displacement induced by urban tunneling

The Line 6 of Naples Underground represents an important system of transport for the city of Naples., that will contribute to develop an integrated transport system imple- mented on highly interconnected and structured networks, in order to provide a balanced div- ision of mobility between various transport means. The tunnel excavation was realized in urban environment, caracterized by very complex geological and geotechnical ground conditions. The ground deformations induced by the excavation tunnel, were controlled by an integrated moni- toring system coupling conventional (optical leveling) and remote sensing technique between Mergellina and Chiaia of metro line during the work from March 2010 to December 2011. A good agreement with the measurements of displacements detected with the two different tech- niques can be observed; the satellite monitoring also allowed, in some sections, as to detect a continuous evolution of ground deformations even after the excavation phase

Verso un Sistema Informativo Geografico Integrato per la valutazione della suscettibilità al dissesto del territorio di Napoli

L’intensa attività di ricerca tecnico-scientifica condotta negli ultimi anni riguardo ai dissesti che colpiscono il territorio napoletano ed alle loro cause ha prodotto una notevole mole di dati. Con essi, ed altri all’uopo acquisiti, è stato possibile produrre un prototipo di Sistema Informativo Geografico Integrato finalizzato allo studio dello stato di dissesto della città di Napoli. L’algoritmo su cui si fonda il modello GIS utilizza un modello sistemico, denominato RES (Rock Engineering Systems), che si basa sull’analisi delle interazioni tra i vari fattori in gioco. È stato, quindi, calcolato un Indice di Suscettibilità al dissesto, sulla base del quale sono state prodotte quattro carte della suscettibilità relative a versanti, muri di sostegno, rete fognaria e rete idrica. Il modello proposto potrà affinarsi sempre più, via via che sarà arricchita la base-dati, in maniera da aumentare l’affidabilità nelle aree in cui i dati sono al momento carenti.Published209-231ope

LANDSLIDE SUSCEPTIBILITY ASSESSMENT IN PYROCLASTIC SOILS: NUMERICAL ANALYSIS ON THE ROLE OF CAPILLARY BARRIERS

Landslides in pyroclastic soils are among the most calamitous natural phenomena causing damage to people and territory every year. The mechanisms underpinning such landslides can be controlled by multiple factors, including site conditions and features of pyroclastic soils. Spatial variations of textural characteristics and related hydro-mechanical features in the overlain pyroclastic layers can yield to relevant effects on water infiltration, with potential formation of capillary barriers at the interface between different soil layers. A better knowledge of the key triggering factors, based on engineering-geological modeling, may be carried out through a detailed field and laboratory measurements, as well as performing numerical simulations. The area surrounding Palma Campania (Napoli, Italy) is largely affected by fast-moving landslides involving pyroclastic deposits. The volcanoclastic sequence is constituted upward by (white and grey) vesicular pumices and (black) dense scoriae levels, associated with the Somma-Vesuvius “Pomici di Base” Plinian eruption (22 ka). Stratigraphic sections along the carbonate slopes of Vallone Lupici reveal failure surfaces along various pyroclastic contact layers (white/gray vesicular pumice and dark dense scoria layers). Representative samples were collected at different stratigraphic heights and analyzed to define structural and textural characteristics; the obtained data were used as input parameters to perform 2D numerical simulations to explore the propagation of hydraulic front under different conditions of water flow (flow rate) and textural features of rocks. The obtained results allow us to put constrains on capillary barriers development in function of soils characteristic and rain fall intensity

Transient infiltration tests in pyroclastic soils with double porosity

Fallout volcanic deposits of Somma- Vesuvius (Campania, southern Italy), characterized by the presence of layers with contrasting textural and hydraulic properties, are frequently affected by shallow landslides during rainwater infiltration. The soils of the stratigraphic sequence present intra- particle pores, originated by the gases escaped during magma decompression in the volcanic conduit, thus are characterized by double porosity (i.e., intraparticle and interparticle pores), which is expected to affect their hydraulic behaviour, and to play a key role in rainwater infiltration through layered deposits. To understand the effect of double porosity on the hydraulic behaviour of the involved soils, controlled experiments have been carried out in an infiltration column. The experimental apparatus is provided with newly designed non-invasive Time Domain Reflectometry (TDR) probes, not buried in the investigated soil layers so as to minimize disturbance to the flow, allowing water content measurement during vertical flow processes. Specifically, transient flow experiments are carried out through reconstituted specimens of black scoriae and grey pumices, both loose pyroclastic granular soils from fallout deposits of Somma-Vesuvius, featuring double porosity with different pore size distributions, that were estimated by X-ray tomography and Mercury Intrusion Porosimetry. The experimental results highlight the effects of the double porosity and clearly indicate the different behaviour of the two soils during wetting and drying processes, mainly related to the different dimensions of intraparticle pores

Verso un Sistema Informativo Geografico Integrato per la valutazione della suscettibilità al dissesto del territorio di Napoli

L’intensa attività di ricerca tecnico-scientifica condotta negli ultimi anni riguardo ai dissesti che colpiscono il territorio napoletano ed alle loro cause ha prodotto una notevole mole di dati. Con essi, ed altri all’uopo acquisiti, è stato possibile produrre un prototipo di Sistema Informativo Geografico Integrato finalizzato allo studio dello stato di dissesto della città di Napoli. L’algoritmo su cui si fonda il modello GIS utilizza un modello sistemico, denominato RES (Rock Engineering Systems), che si basa sull’analisi delle interazioni tra i vari fattori in gioco. È stato, quindi, calcolato un Indice di Suscettibilità al dissesto, sulla base del quale sono state prodotte quattro carte della suscettibilità relative a versanti, muri di sostegno, rete fognaria e rete idrica. Il modello proposto potrà affinarsi sempre più, via via che sarà arricchita la base-dati, in maniera da aumentare l’affidabilità nelle aree in cui i dati sono al momento carenti