Eiha?!?: XML per l'organizzazione di URL con distribuzione multimodale

La crescita esponenziale di risorse presenti in rete ed il largo sviluppo di strumenti per l'accesso multimodale ad internet fanno sorgere nuovi problemi di gestione dell'informazione quali la ricerca di contenuti e la formattazione dei contenitori. In questo contesto ed all'interno del progetto europeo Vision abbiamo costruito un manuale telematico interattivo della cultura e del territorio della Sardegna. Questa raccolta di dati e stata progettata anche come piattaforma di sperimentazione di nuove tecnologie quali l'XML e le sue applicazioni. Il risultato ottenuto e un servizio multimodale, denominato Eiha?!?, fruibile attraverso PC, cellulari e PDA

The contribution of T cell-derived cytokines and proteases to chronic inflammation in the human intestine

This Thesis explores aspects of disease pathogenesis in Crohn’s disease (CD) and ulcerative colitis (UC), investigates mechanisms of responsiveness to biologic treatment in inflammatory bowel disease (IBD), and describes the clinical and immunologic phenotype associated with a homozygous deletion in a disintegrin and a metalloproteinase (ADAM)17 gene. The role of interleukin (IL)-17A, IL-17E and IL-13 in human intestinal inflammation is not clear. IL-13 plays an important role in experimental colitis and in intestinal experimental fibrosis. However, contrasting observations exist on the levels and the role of IL-13 in inflamed IBD mucosa, and limited information is available on the role of IL-13 in CD intestinal fibrosis. We observed that IL-13 is not up-regulated in UC intestinal mucosa, and that it is unlikely to play a functional role in the mucosal pro-inflammatory response in the majority of patients with UC. Conversely, IL-17A is up-regulated in fibrostenosing CD intestine, and may contribute to intestinal fibrosis in CD. Our results indicate that IL-17E and IL-13 are not up-regulated in CD intestinal strictures, and are unlikely to play a role in intestinal fibrosis in CD. A considerable proportion of IBD patients do not respond to anti-tumour necrosis factor (TNF)- agents. Anti-TNF- agents exert their action in inflamed tissues, rich in matrix metalloproteinase (MMP)-3 and MMP-12, which in turn can degrade immunoglobulin (Ig)G1. We observed that MMP-3, MMP-12, and protein extracts from inflamed IBD mucosa, but not MMP-9, degrade the anti-TNF- agents infliximab, adalimumab and etanercept, however etanercept shows a higher susceptibility than infliximab and adalimumab. We also observed that a subgroup of IBD patients who did not respond to anti-TNF- agents have particularly high serum levels of MMP-3-/MMP-12-cleaved endogenous IgG and anti-hinge autoantibodies compared to IBD patients who subsequently responded to biologic therapy. 8 Finally, we observed that homozygous deletion in ADAM17 in humans is associated with a complex, neonatal-onset, multi-organ syndrome affecting mainly the skin, the intestine, and the cardiovascular system. In this condition, ADAM17 expression is down-regulated in the skin and in the duodenum, and soluble TNF- release by peripheral blood mononuclear cells (PBMCs) is substantially impaired. These results underline the heterogeneity characterising chronic intestinal inflammation, and may form the basis for subsequent studies with the aim to identify accurate serum biomarkers of disease progression and responsiveness to biologic therapy, and ultimately to develop effective strategies of patient stratification in IBD

Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation.

Mitochondrial disorders are usually characterized by the combination of deep gray and white matter involvement on brain imaging. However, a selective white matter involvement has been reported in specific mitochondrial diseases, including Leber hereditary optic neuropathy, myoneurogastrointestina

Fine-grained multilayer virtualized systems analysis

With the consolidation of computer services in large cloud-based data centers, almost all applications and even application development execute in virtualized systems(VS’s), sometimes nested. Whether it is inside a container, a virtual machine (VM) running on a physical host, or in a nested virtual machine, every process eventually runs on a physical CPU. Consequently, multiple virtualized systems might unknowingly compete with each other for physical resources. In this paper we study the interactions between all the VS’s running on a physical machine. We introduce an analysis based on kernel tracing that erases the bounds between VS’s and their host, to display a multilayer system as a single layer. As a result, it becomes possible to know exactly which process is currently running on a physical CPU, even if it is launched inside multiple layers of containers, themselves enclosed into two layers of VMs. To use this analysis, we developed in Trace Compass a view that displays a time line for each host CPU, showing across time which process is running. Moreover, the full hierarchy of the VS’s is retrieved from the analysis and is displayed in the view. By using a system of dynamic and permanent filters, we added the possibility to highlight in this view either traced VMs, virtual CPUs, specific processes and containers. This last feature, combined with our view, allows to thoroughly apprehend the execution flow on the physical host, although it may involve multiple nested virtualized systems

hypomyelination and congenital cataract neuroimaging features of a novel inherited white matter disorder

BACKGROUND AND PURPOSE: Hypomyelination and congenital cataract (HCC) is an autosomal recessive white matter disease caused by deficiency of hyccin, a membrane protein implicated in both central and peripheral myelination. We aimed to describe the neuroimaging features of this novel entity. MATERIALS AND METHODS: A systematic analysis of patients with unclassified leukoencephalopathies admitted to our institutions revealed 10 children with congenital cataract, slowly progressive neurologic impairment, and diffuse white matter abnormalities on neuroimaging. Psychomotor developmental delay was evident after the first year of life. Peripheral neuropathy was demonstrated by neurophysiologic studies in 9 children. The available neuroimaging studies were retrospectively reviewed. RESULTS: In all patients, neuroimaging revealed diffuse involvement of the supratentorial white matter associated with preservation of both cortical and deep gray matter structures. Supratentorial white matter hypomyelination was detected in all patients; 7 patients also had evidence of variably extensive areas of increased white matter water content. Deep cerebellar white matter hypomyelination was found in 6 patients. Older patients had evidence of white matter bulk loss and gliosis. Proton MR spectroscopy showed variable findings, depending on the stage of the disease. Sural nerve biopsy revealed hypomyelinated nerve fibers. Mutations in the DRCTNNB1A gene on chromosome 7p15.3, causing complete or severe deficiency of hyccin, were demonstrated in all patients. CONCLUSIONS: HCC is characterized by a combined pattern of primary myelin deficiency and secondary neurodegenerative changes. In the proper clinical setting, recognition of suggestive neuroimaging findings should prompt appropriate genetic investigations

Multilayer virtualized systems analysis with kernel tracing

This paper studies interactions between virtual machines and their host through the sharing of resources like physical CPUs. We present an analysis based on kernel tracing that erases the bounds between virtual machines and their host to reduce the multilayer system into a single layer. For this analysis we developed a view that displays a time line for each host's CPU, showing across time which process is running, even if it is from a virtual machine. By using a system of filters, we added the possibility to highlight in this view either traced machines, virtual CPUs or specific processes. This last feature grants the possibility to precisely see on the host where and when a virtual machine's thread is running

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping

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A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers

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Simulación hidrológica de los impactos del cambio climático en la cuenca del río Caimito, La Chorrera, Panamá Oeste

High rainfall causes an increase in the water load in the river basin, causing overflows that create threatening situations. Threat zoning and flood vulnerability assessment are fundamental procedures for decision-making from the point of view of planning a territory and studies for risk mitigation and management. Using the hydrological and hydraulic inputs, information on depth and flow velocity is obtained according to the characteristics of the slope. In this study, the techniques, procedures and tools typical of a Geographic Information System (GIS) were used, to know exactly the areas of threat and vulnerability due to flooding, using the Hec-Ras hydraulic simulation model, defining the flood levels through cross-sectional profiles and digital terrain modeling, in order to carry out the zoning of flood threats, which is an optimal tool to achieve a management of the Rio Caimito basin, which allows the strategic planning of the basin and to identify the evacuation areas when another flood event occurs and thus be able to contribute to the resilience of that community and serve as a reference to other sectors.Las precipitaciones altas ocasionan el aumento en la carga hídrica en la cuenca de los ríos, originando desbordamientos que propician situaciones de amenaza. La zonificación de la amenaza y la evaluación de la vulnerabilidad por inundación son procedimientos fundamentales para la toma decisiones desde el punto de vista de la planificación de un territorio y los estudios para la mitigación y gestión del riesgo. Utilizando los insumos hidrológico e hidráulico, se obtiene información de profundidad y velocidad del flujo según las características de la pendiente. En este estudio se utilizaron las técnicas, procedimientos y herramientas propios de un Sistema de Información Geográfica (SIG), para conocer con exactitud las áreas de amenaza y vulnerabilidad por inundación, mediante el modelo de simulación hidráulica Hec-Ras, definiendo las cotas de inundación a través de perfiles transversales y modelado digital de terreno, con el propósito de realizar la zonificación de amenazas por inundación, que es una herramienta óptima para alcanzar un ordenamiento de la cuenca del Rio Caimito,  que permite la planificación estratégica de la cuenca y poder identificar la áreas de evacuación cuando se llegue a dar otro evento de inundación y así poder contribuir a la resiliencia de esa comunidad y que sirva como referencia a otros sectores