Soil slips and debris flows on terraced slopes

International audienceTerraces cover large areas along the flanks of many alpine and prealpine valleys. Soil slips and soil slips-debris flows are recurrent phenomena along terraced slopes. These landslides cause damages to people, settlements and cultivations. This study investigates the processes related to the triggering of soil slip-debris flows in these settings, analysing those occurred in Valtellina (Central Alps, Italy) on November 2000 after heavy prolonged rainfalls. 260 landslides have been recognised, mostly along the northern valley flank. About 200 soil slips and slumps occurred in terraced areas and a third of them evolved into debris flows. Field work allowed to recognise the settings at soil slip-debris flow source areas. Landslides affected up to 2.5 m of glacial, fluvioglacial and anthropically reworked deposits overlying metamorphic basement. Laboratory and in situ tests allowed to characterise the geotechnical and hydraulic properties of the terrains involved in the initial failure. Several stratigraphic and hydrogeologic factors have been individuated as significant in determining instabilities on terraced slopes. They are the vertical changes of physical soil properties, the presence of buried hollows where groundwater convergence occurs, the rising up of perched groundwater tables, the overflow and lateral infiltration from superficial drainage network, the runoff concentration by means of pathways and the insufficient drainage of retaining walls

Local scale multiple quantitative risk assessment and uncertainty evaluation in a densely urbanised area (Brescia, Italy)

Abstract. The study of the interactions between natural and anthropogenic risks is necessary for quantitative risk assessment in areas affected by active natural processes, high population density and strong economic activities. We present a multiple quantitative risk assessment on a 420 km2 high risk area (Brescia and surroundings, Lombardy, Northern Italy), for flood, seismic and industrial accident scenarios. Expected economic annual losses are quantified for each scenario and annual exceedance probability-loss curves are calculated. Uncertainty on the input variables is propagated by means of three different methodologies: Monte-Carlo-Simulation, First Order Second Moment, and point estimate. Expected losses calculated by means of the three approaches show similar values for the whole study area, about 64 000 000 € for earthquakes, about 10 000 000 € for floods, and about 3000 € for industrial accidents. Locally, expected losses assume quite different values if calculated with the three different approaches, with differences up to 19%. The uncertainties on the expected losses and their propagation, performed with the three methods, are compared and discussed in the paper. In some cases, uncertainty reaches significant values (up to almost 50% of the expected loss). This underlines the necessity of including uncertainty in quantitative risk assessment, especially when it is used as a support for territorial planning and decision making. The method is developed thinking at a possible application at a regional-national scale, on the basis of data available in Italy over the national territory

Detection of selection signatures for ear carriage in Maltese goat breed

Selection and breeding practices in goats have led to the fixation of several traits. This is probably due to the standardization of several peculiar morphological characteristics that have always been one of the major exclusion criteria of individuals from selection. Among these, ear carriage is one of the most ancient and considered a signature of domestication in several species, such as the dog, pig, sheep and goat (Boyko et al., 2010). The availability of improved genomic analyses tools for goats may provide useful information on genes involved in this trait. By studying, for example, the homozygosity decay of haplotypes (contiguous length of alleles) such information can be detected. In the current study, we focused on the Maltese goat, a breed showing floppy ears, in comparison with other Italian breeds using a goat medium density SNP chip (Nicoloso et al., 2015). A total 48,767 SNP markers for 369 animals belonging to 16 breeds or populations were analyzed. Genotypes were imputed within population excluding markers without known position on the current genome assembly (ARS1, Bickhart et al., 2017). Population analysis using MDS, ADMIXTURE and fastSTRUCTURE confirmed the good differentiation among the populations. Integrated Haplotype Score (iHS, Sabeti et al., 2007) was performed for each population, comparing the regions detected on the Maltese breed with the others considered to detect genes that may be involved into shaping ear morphology. These results may provide new insights into ear carriage phenotype by detecting genes that play a pivotal role in shaping the goat phenotypic diversity

Accounting for the effect of forest and fragmentation in probabilistic rockfall hazard

The presence of trees along the slope and block fragmentation at impact strongly affect rockfall dynamics and hazard as a consequence. However, these phenomena are rarely simulated explicitly in rockfall studies. We performed rockfall simulations by using the 3D rockfall simulator Hy-Stone, modeling both the presence of trees and fragmentation through specific algorithms implemented in the code. By comparing these simulations with a more classical approach that attempts to account implicitly for such phenomena in the model parameters and by using a new probabilistic rockfall hazard analysis (PRHA) method, we were able to quantify the impact of these phenomena on the design of countermeasures and on hazard. We demonstrated that hazard changes significantly when accounting explicitly for these phenomena and that a classical implicit approach usually overestimates both the hazard level and the 95th percentile of kinetic energy, leading to an oversizing of mitigation measures.</p

Assessing the impact of a community-based pro-active monitoring program addressing the need for care of community-dwelling citizens aged more than 80: protocol for a prospective pragmatic trial and results of the baseline Assessment

The aim of this paper is to describe the protocol of a study assessing the impact of a Community-based pro-Active Monitoring Program, by measuring the effect in counteracting the adverse outcomes related to frailty

Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman–Diamond Syndrome

Background: Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive ribosomopathy mainly characterized by exocrine pancreatic insufficiency, skeletal alterations, neutropenia, and a relevant risk of hematological transformation. At least 90% of SDS patients have pathogenic variants in SBDS, the first gene associated with the disease with very low allelic heterogeneity; three variants, derived from events of genetic conversion between SBDS and its pseudogene, SBDSP1, provided the alleles observed in about 62% of SDS patients.Methods: We performed a reanalysis of the available WES files of a group of SDS patients with biallelic SBDS pathogenic variants, studying the results by next bioinformatic and protein structural analysis. Parallelly, careful clinical attention was given to the patient focused in this study.Results: We found and confirmed in one SDS patient a germline heterozygous missense variant (c.100T&gt;C; p.Phe34Leu) in the EIF6 gene. This variant, inherited from his mother, has a very low frequency, and it is predicted as pathogenic, according to several in silico prediction tools. The protein structural analysis also envisages the variant could reduce the binding to the nascent 60S ribosomal.Conclusion: This study focused on the hypothesis that the EIF6 germline variant mimics the effect of somatic deletions of chromosome 20, always including the locus of this gene, and similarly may rescue the ribosomal stress and ribosomal dysfunction due to SBDS mutations. It is likely that this rescue may contribute to the stable and not severe hematological status of the proband, but a definite answer on the role of this EIF6 variant can be obtained only by adding a functional layer of evidence. In the future, these results are likely to be useful for selected cases in personalized medicine and therapy

Donor cell acute myeloid leukemia after hematopoietic stem cell transplantation for chronic granulomatous disease: a case report and literature review

The patient reported here underwent hematopoietic stem cell transplantation (HSCT) due to chronic granulomatous disease (CGD) caused by biallelic mutations of the NCF1 gene. Two years later, he developed AML, which was unexpected and was recognized via sex-mismatched chromosomes as deriving from the donor cells; the patient was male, and the donor was his sister. Donor cell leukemia (DCL) is very rare, and it had never been reported in patients with CGD after HSCT. In the subsequent ten years, the AML relapsed three times and the patient underwent chemotherapy and three further HSCTs; donors were the same sister from the first HSCT, an unrelated donor, and his mother. The patient died during the third relapse. The DCL was characterized since onset by an acquired translocation between chromosomes 9 and 11, with a molecular rearrangement between the MLL and MLLT3 genes-a quite frequent cause of AML. In all of the relapses, the malignant clone had XX sex chromosomes and this rearrangement, thus indicating that it was always the original clone derived from the transplanted sister's cells. It exhibited the ability to remain quiescent in the BM during repeated chemotherapy courses, remission periods and HSCT. The leukemic clone then acquired different additional anomalies during the ten years of follow-up, with cytogenetic results characterized both by anomalies frequent in AML and by different, non-recurrent changes. This type of cytogenetic course is uncommon in AML