The application of the Boolean Stochastic Generation Method to model seepage under levees in heterogeneous soils

Soil heterogeneity plays an important role in incrementing the uncertainty about the reliability of geotechnical engineering works, especially levees. The presence of thin layers of soils more permeable than the surrounding matrix significantly changes the seepage flow net below and within the dike. However, the detection of these layers is extremely difficult. Consequently, to evaluate the overall safety of dikes it may be useful to adopt stochastic computation methods. The paper presents the calibration of a seepage model of an operational river embankment subject to sand boils. The levee, located along the Adige River (South Tyrol, Italy), has been monitored since 2016. Piezometers and spot temperature sensors are installed in the lateral banks while a distributed fiber optic sensors (FOS), buried in a 350 m long trench at the toe of the levee, is used to check temperature distribution in the subground. The Boolean Stochastic Generation (BoSG) method addresses the influence of layers of material with different properties with respect of the surrounding soil. 360 soil configurations were generated for a two-dimensional groundwater flow model of the levee and confronted with the monitoring data of two piezometers. This analysis permits to identify the configuration that has effects more congruent with piezometers data, which in this case is a configuration with a major presence of lenses on the waterside respect the field-side. This evidence could guide strategies for remedial works

The landscape of cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis

Although mutations in the superoxide dismutase 1 gene account for only a minority of total amyotrophic lateral sclerosis cases, the discovery of this gene has been crucial for amyotrophic lateral sclerosis research. Since the identification of superoxide dismutase 1 in 1993, the field of amyotrophic lateral sclerosis genetics has considerably widened, improving our understanding of the diverse pathogenic basis of amyotrophic lateral sclerosis. In this review, we focus on cognitive impairment in superoxide dismutase 1-amyotrophic lateral sclerosis patients. Literature has mostly reported that cognition remains intact in superoxide dismutase 1-amyotrophic lateral sclerosis patients, but recent reports highlight frontal lobe function frailty in patients carrying different superoxide dismutase 1-amyotrophic lateral sclerosis mutations. We thoroughly reviewed all the various mutations reported in the literature to contribute to a comprehensive database of superoxide dismutase 1-amyotrophic lateral sclerosis genotype-phenotype correlation. Such a resource could ultimately improve our mechanistic understanding of amyotrophic lateral sclerosis, enabling a more robust assessment of how the amyotrophic lateral sclerosis phenotype responds to different variants across genes, which is important for the therapeutic strategy targeting genetic mutations. Cognition in superoxide dismutase 1-amyotrophic lateral sclerosis deserves further longitudinal research since this peculiar frailty in patients with similar mutations can be conditioned by external factors, including environment and other unidentified agents including modifier genes

Early anti IL-1 treatment replaces steroids in refractory Kawasaki disease: clinical experience from two case reports

Refractory Kawasaki disease (KD) is related to a major risk of coronary arteries abnormalities and its treatment is not standardized. In this regard, anakinra (ANA), an interleukin (IL)-1 receptor antagonist, represents an emerging therapeutic option. We report two cases of children, diagnosed with KD, nonresponsive to two doses of intravenous immunoglobulins, successfully treated with ANA, without a prior use of steroids. Patient 2 developed a coronary dilatation, that improved significantly after ANA therapy. Our experience highlights IL-1 blockade effectiveness in reducing KD inflammation and suggests ANA adoption as second-line therapy, with a timesaving and steroid-sparing strategy. Our results, combined with the evidence of the IL-1 key role in KD and coronary arteritis pathogenesis and to the recent clinical evidence reported by the KAWAKINRA trial, encourage an earlier recourse to ANA in patients with refractory KD, in order to fight inflammation, and to treat and prevent the development of coronary artery aneurysms. Further studies are needed to better define the place of IL-1 blockade in KD step-up treatment

Young Onset Alzheimer’s Disease Associated with C9ORF72 Hexanucleotide Expansion: Further Evidence for a Still Unsolved Association

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are recognized as part of a disease continuum (FTD-ALS spectrum), in which the most common genetic cause is chromosome 9 open reading frame 72 (C9ORF72) gene hexanucleotide repeat expansion. The clinical phenotype of patients carrying this expansion varies widely and includes diseases beyond the FTD-ALS spectrum. Although a few cases of patients with C9ORF72 expansion and a clinical or biomarker-supported diagnosis of Alzheimer’s disease (AD) have been described, they have been considered too sparse to establish a definite association between the C9ORF72 expansion and AD pathology. Here, we describe a C9ORF72 family with pleomorphic phenotypical expressions: a 54-year-old woman showing cognitive impairment and behavioral disturbances with both neuroimaging and cerebrospinal fluid (CSF) biomarkers consistent with AD pathology, her 49-year-old brother with typical FTD-ALS, and their 63-year-old mother with the behavioral variant of FTD and CSF biomarkers suggestive of AD pathology. The young onset of disease in all three family members and their different phenotypes and biomarker profiles make the simple co-occurrence of different diseases an extremely unlikely explanation. Our report adds to previous findings and may contribute to further expanding the spectrum of diseases associated with C9ORF72 expansion

On distributed strains in a CFA pile via DFOSs measurements and numerical analysis

Fibre Optic Sensors (FOSs) offer unprecedented possibilities for the monitoring of engineering structures, such as foundation systems. Notably, the type of FOSs known as Distributed Fibre Optic Sensors (DFOSs) has the capability of monitoring variations in the observed physical field, such as strain and temperature, with spatial continuity along the fibre. This paper presents and discusses the distributed strain measurements collected along a continuous flight auger (CFA) pile, belonging to the foundation raft of a new bridge subjected to an acceptance static load test. The monitoring was performed using a DFOS system, which works according to the optical frequency domain reflectometry (OFDR) method and provides a spatial resolution of 10 mm and a strain resolution of 1 \u3bc\u3b5. The in-situ monitoring results were used to calibrate a 3D Finite Element Model of the foundation system. The soil properties for the numerical model were also selected on the basis of a load test previously carried out on a similar pile at the same sit