From Environment to Genome and Back : a Lesson from HFE Mutations

The environment and the human genome are closely entangled and many genetic variations that occur in human populations are the result of adaptive selection to ancestral environmental (mainly dietary) conditions. However, the selected mutations may become maladaptive when environmental conditions change, thus becoming candidates for diseases. Hereditary hemochromatosis (HH) is a potentially lethal disease leading to iron accumulation mostly due to mutations in the HFE gene. Indeed, homozygosity for the C282Y HFE mutation is associated with the primary iron overload phenotype. However, both penetrance of the C282Y variant and the clinical manifestation of the disease are extremely variable, suggesting that other genetic, epigenetic and environmental factors play a role in the development of HH, as well as, and in its progression to end-stage liver diseases. Alcohol consumption and dietary habits may impact on the phenotypic expression of HFE-related hemochromatosis. Indeed, dietary components and bioactive molecules can affect iron status both directly by modulating its absorption during digestion and indirectly by the epigenetic modification of genes involved in its uptake, storage and recycling. Thus, the premise of this review is to discuss how environmental pressures led to the selection of HFE mutations and whether nutritional and lifestyle interventions may exert beneficial effects on HH outcomes and comorbidities

Performance of a large limited streamer tube cell in drift mode

The performance of a large (3x3 $cm^2$) streamer tube cell in drift mode is shown. The detector space resolution has been studied using cosmic muons crossing an high precision silicon telescope. The experimental results are compared with a GARFIELD simulation.Comment: 18 pages, 7 figures. Accepted by Nucl. Instr. and Methods

High resolution pixel detectors for e+e- linear colliders

The physics goals at the future e+e- linear collider require high performance vertexing and impact parameter resolution. Two possible technologies for the vertex detector of an experimental apparatus are outlined in the paper: an evolution of the Hybrid Pixel Sensors already used in high energy physics experiments and a new detector concept based on the monolithic CMOS sensors.Comment: 8 pages, to appear on the Proceedings of the International Workshop on Linear Colliders LCWS99, Sitges (Spain), April 28 - May 5, 199

Application of a prioritisation scheme for seismic intervention in schools buildings in Italy

A risk management framework has recently been developed to assign priorities for the rehabilitation of school buildings in Italy, and to give timescales within which retrofit or demolition must take place. Since it is not practical to carry out a detailed assessment of the 60,000 Italian state and public schools, the framework is a multiple-level procedure which aims to identify the highest-risk buildings based on filters of increasing detail, and reduces the size of the building inventory at each step. The first risk ranking is based on a strength deficit, which measures the difference between the current design forces defined for the building site and an estimation of the level of seismic resistance which was required at the time of design. The second ranking is based on lateral strength calculations that are already available for a large portion of the Italian masonry building stock, and that are obtained from a survey form that is familiar to Italian engineers. Finally, a simplified displacement-based methodology is used to give a more accurate assessment of seismic risk based on a limited amount of geometrical and material data. The final assessment leads to a capacity ratio and a risk rating, which are used within a transparent procedure to assign priorities for seismic intervention, and timescales within which detailed assessment leading to retrofit or demolition must take place. The first step of the methodology has been applied herein to the school building stock within two Regions in Italy and preliminary results are presented

A comparison of seismic risk maps for Italy

National seismic risk maps are an important risk mitigation tool as they can be used for the prioritization of regions within a country where retrofitting of the building stock or other risk mitigation measures should take place. The production of a seismic risk map involves the convolution of seismic hazard data, vulnerability predictions for the building stock and exposure data. The seismic risk maps produced in Italy over the past 10 years are compared in this paper with recent proposals for seismic risk maps based on state-of-the-art seismic hazard data and mechanics-based vulnerability assessment procedures. The aim of the paper is to open the discussion for the way in which future seismic risk maps could be produced, making use of the most up-to-date information in the fields of seismic hazard evaluation and vulnerability assessment

High Resolution Hybrid Pixel Sensors for the e+e- TESLA Linear Collider Vertex Tracker

In order to fully exploit the physics potential of a future high energy e+e- linear collider, a Vertex Tracker, providing high resolution track reconstruction, is required. Hybrid Silicon pixel sensors are an attractive option, for the sensor technology, due to their read-out speed and radiation hardness, favoured in the high rate environment of the TESLA e+e- linear collider design but have been so far limited by the achievable single point space resolution. In this paper, a conceptual design of the TESLA Vertex Tracker, based on a novel layout of hybrid pixel sensors with interleaved cells to improve their spatial resolution, is presented.Comment: 12 pages, 5 figures, to appear in the Proceedings of the Vertex99 Workshop, Texel (The Netherlands), June 199

Application of a prioritisation scheme for seismic intervention in schools buildings in Italy

A risk management framework has recently been developed to assign priorities for the rehabilitation of school buildings in Italy, and to give timescales within which retrofit or demolition must take place. Since it is not practical to carry out a detailed assessment of the 60,000 Italian state and public schools, the framework is a multiple-level procedure which aims to identify the highest-risk buildings based on filters of increasing detail, and reduces the size of the building inventory at each step. The first risk ranking is based on a strength deficit, which measures the difference between the current design forces defined for the building site and an estimation of the level of seismic resistance which was required at the time of design. The second ranking is based on lateral strength calculations that are already available for a large portion of the Italian masonry building stock, and that are obtained from a survey form that is familiar to Italian engineers. Finally, a simplified displacement-based methodology is used to give a more accurate assessment of seismic risk based on a limited amount of geometrical and material data. The final assessment leads to a capacity ratio and a risk rating, which are used within a transparent procedure to assign priorities for seismic intervention, and timescales within which detailed assessment leading to retrofit or demolition must take place. The first step of the methodology has been applied herein to the school building stock within two Regions in Italy and preliminary results are presented

Deliverable 1 # A3.13.1-2-3-4-5

We investigate wave motion through numerical simulations that take into account primarily the ground acceleration in response to a given earthquake rupture that radiates seismic waves. The shaking that potential sources might cause is plotted on maps that provide a general overview of the hazard over a large area, and that can be used as the starting point for further detailed investigations. Here, we establish a procedure to compute ground motion that spans the entire frequency range of engineering interest (i.e., broad-band), and we derive the maximum shaking that is caused by expected earthquakes throughout Italy (i.e. the maximum observable shaking; MOS). Our approaches merge updated knowledge of the Italian regional tectonic setting and of source-zone definitions (Valensise and Pantosti, 2001; Basili et al., 2008) and scenario-like calculations of the expected MOS in any given area