Graphical chain models for the analysis of complex genetic diseases: an application to hypertension

A crucial task in modern genetic medicine is the understanding of complex genetic diseases. The main complicating features are that a combination of genetic and environmental risk factors is involved, and the phenotype of interest may be complex. Traditional statistical techniques based on lod-scores fail when the disease is no longer monogenic and the underlying disease transmission model is not defined. Different kinds of association tests have been proved to be an appropriate and powerful statistical tool to detect a candidate gene for a complex disorder. However, statistical techniques able to investigate direct and indirect influences among phenotypes, genotypes and environmental risk factors, are required to analyse the association structure of complex diseases. In this paper we propose graphical models as a natural tool to analyse the multifactorial structure of complex genetic diseases. An application of this model to primary hypertension data set is illustrated

Hot Licks and Rhetoric: Collecting, Community, and Disruptive Literacies

This ethnographic dissertation investigates the activities and tactical technical communications (TTC) of underground music collectors. Through this it explores the concepts of community and institution that compositionists and technical writing scholars use as ways to address social influences on writing, but which fail to explain how these milieus influence the writers and their genres. Collectors of Recordings of Independent Origin (ROIOs), through the use of increasingly disruptive technologies, moved from passive listeners to active producers of music for sharing freely, garnering opposition from the music industry as their activities moved online. This study views the relationship between the music industry, ROIO collectors, and bootleggers through an activity theory lens and applies rhetorical genre analysis to collectors’ voluntary, colloquially written, but highly technical documentation. These methods, coupled with surveys of ROIO collectors, creators, and site administrators, reveal high interactivity and cooperation between these seemingly oppositional groups. By focusing away from social contexts and toward the literacies employed within them and the purposes to which these literacies are applied, this study suggests that the way in which technologies disrupt societies and organizations is analogous to the way in which social contexts influence writing and genre. These findings allow for a more literacy-connected way of seeing institution and a purpose-driven view of community that return analytical focus to writers and the purposes for which write. In turn, these ideas allow us to view tactics, currently viewed in TTC scholarship as opposition to institutional preferences or strategies, in terms of both multiperspectivity of an activity system’s object and the available literacies employed for the writer’s purposes

Multi-Thread Hydrodynamic Modeling of a Solar Flare

Past hydrodynamic simulations have been able to reproduce the high temperatures and densities characteristic of solar flares. These simulations, however, have not been able to account for the slow decay of the observed flare emission or the absence of blueshifts in high spectral resolution line profiles. Recent work has suggested that modeling a flare as an sequence of independently heated threads instead of as a single loop may resolve the discrepancies between the simulations and observations. In this paper we present a method for computing multi-thread, time-dependent hydrodynamic simulations of solar flares and apply it to observations of the Masuda flare of 1992 January 13. We show that it is possible to reproduce the temporal evolution of high temperature thermal flare plasma observed with the instruments on the \textit{GOES} and \textit{Yohkoh} satellites. The results from these simulations suggest that the heating time-scale for a individual thread is on the order of 200 s. Significantly shorter heating time scales (20 s) lead to very high temperatures and are inconsistent with the emission observed by \textit{Yohkoh}.Comment: Submitted to Ap

A new Method to Constrain the Iron Abundance from Cooling Delays in Coronal Loops

Recent observations with TRACE reveal that the time delay between the appearance of a cooling loop in different EUV temperature filters is proportional to the loop length, dt_12 ~ L. We model this cooling delay in terms of radiative loss and confirm this linear relationship theoretically. We derive an expression that can be used to constrain the coronal iron enhancement alpha_Fe=A_Fe^cor/A_Fe^Ph relative to the photospheric value as function of the cooling delay dt_12, flux F_2, loop width w, and filling factor q_w < 1. With this relation we find upper limits on the iron abundance enhancement of alpha_Fe < 4.8+/-1.7 for 10 small-scale nanoflare loops, and alpha_Fe < 1.4+/-0.4 for 5 large-scale loops, in the temperature range of T~1.0-1.4 MK. This result supports the previous finding that low-FIP elements, including Fe, are enhanced in the corona. The same relation constitutes also a lower limit for the filling factor, which is q_w > 0.2+/-0.1 and q_w > 0.8+/-0.2 for the two groups of coronal loops.Comment: 2 Figure

Locomotory Adaptations in 3D Humerus Geometry of Xenarthra: Testing for Convergence

Three-dimensional (3D) models of fossil bones are increasingly available, thus opening a novel frontier in the study of organismal size and shape evolution. We provide an example of how photogrammetry can be combined with Geometric Morphometrics (GMM) techniques to study patterns of morphological convergence in the mammalian group of Xenarthra. Xenarthrans are currently represented by armadillos, sloths, and anteaters. However, this clade shows an incredibly diverse array of species and ecomorphotypes in the fossil record, including gigantic ground sloths and glyptodonts. Since the humerus is a weight-bearing bone in quadrupedal mammals and its morphology correlates with locomotor behavior, it provides an ideal bone to gain insight into adaptations of fossil species. A 3D sample of humerii belonging to extant and fossil Xenarthra allowed us to identify a significant phylogenetic signal and a strong allometric component in the humerus shape. Although no rate shift in the evolution of the humerus shape was recorded for any clade, fossorial and arboreal species humerii did evolve at significantly slower and faster paces, respectively, than the rest of the Xenarthran species. Significant evidence for morphological convergence found among the fossorial species and between the two tree sloth genera explains these patterns. These results suggest that the highly specialized morphologies of digging taxa and tree sloths represent major deviations from the plesiomorphic Xenarthran body plan, evolved several times during the history of the group

The Value Stream Hierarchical Model: A Practical Tool to Apply the Lean Thinking Concepts at All the Firms’ Levels

The increasing competition in the global markets is pushing many manufacturers to start the lean transformation with the final goal of being a Lean Enterprise, which applies the Lean thinking concepts at all its levels, from production to management. The biggest problem in this transition is to have a tool that consistently measures the undergoing evolution in the value stream selected, regardless of its extent, in order to take the subsequent actions needed. The main objective of this paper is to provide such a tool, the Value Stream Hierarchical Model (VSH Model), which could fit with every kind of manufacturing enterprise taking into account also the recent shift to industry 4.0 and the related new technologies available. In addition, another purpose of the model is to provide a scalable point of view that allows to “zoom in” on the company entity, based on the desired level of detail and the related information required. The VSH Model has born as a mix of the architectures existent in literature (ARIS, CIMOSA, PERA), which describe the enterprise from different point of views and levels, and the Lean Thinking concepts, starting from the Lean production tools and variables, passing through the Lean Accounting variables and ending with the Lean Management KPIs. The VSH model has already been applied to practical cases, consisting of a group of companies, as part of the industrial research carried out in Italy by the Politecnico di Torino

How to Commission, Operate and Maintain a Large Future Accelerator Complex from Far Remote

A study on future large accelerators [1] has considered a facility, which is designed, built and operated by a worldwide collaboration of equal partner institutions, and which is remote from most of these institutions. The full range of operation was considered including commi-ssioning, machine development, maintenance, trouble shooting and repair. Experience from existing accele-rators confirms that most of these activities are already performed 'remotely'. The large high-energy physics ex-periments and astronomy projects, already involve inter-national collaborations of distant institutions. Based on this experience, the prospects for a machine operated remotely from far sites are encouraging. Experts from each laboratory would remain at their home institution but continue to participate in the operation of the machine after construction. Experts are required to be on site only during initial commissioning and for par-ticularly difficult problems. Repairs require an on-site non-expert maintenance crew. Most of the interventions can be made without an expert and many of the rest resolved with remote assistance. There appears to be no technical obstacle to controlling an accelerator from a distance. The major challenge is to solve the complex management and communication problems.Comment: ICALEPCS 2001 abstract ID No. FRBI001 invited talk submitting author F. Willeke 5 pages, 1 figur

Change Detection Techniques with Synthetic Aperture Radar Images: Experiments with Random Forests and Sentinel-1 Observations

This work aims to clarify the potential of incoherent and coherent change detection (CD) approaches for detecting and monitoring ground surface changes using sequences of synthetic aperture radar (SAR) images. Nowadays, the growing availability of remotely sensed data collected by the twin Sentinel-1A/B sensors of the European (EU) Copernicus constellation allows fast mapping of damage after a disastrous event using radar data. In this research, we address the role of SAR (amplitude) backscattered signal variations for CD analyses when a natural (e.g., a fire, a flash flood, etc.) or a human-induced (disastrous) event occurs. Then, we consider the additional pieces of information that can be recovered by comparing interferometric coherence maps related to couples of SAR images collected between a principal disastrous event date. This work is mainly concerned with investigating the capability of different coherent/incoherent change detection indices (CDIs) and their mutual interactions for the rapid mapping of "changed" areas. In this context, artificial intelligence (AI) algorithms have been demonstrated to be beneficial for handling the different information coming from coherent/incoherent CDIs in a unique corpus. Specifically, we used CDIs that synthetically describe ground surface changes associated with a disaster event (i.e., the pre-, cross-, and post-disaster phases), based on the generation of sigma nought and InSAR coherence maps. Then, we trained a random forest (RF) to produce CD maps and study the impact on the final binary decision (changed/unchanged) of the different layers representing the available synthetic CDIs. The proposed strategy was effective for quickly assessing damage using SAR data and can be applied in several contexts. Experiments were conducted to monitor wildfire's effects in the 2021 summer season in Italy, considering two case studies in Sardinia and Sicily. Another experiment was also carried out on the coastal city of Houston, Texas, the US, which was affected by a large flood in 2017; thus, demonstrating the validity of the proposed integrated method for fast mapping of flooded zones using SAR data

Wave Height Attenuation and Flow Resistance Due to Emergent or Near-Emergent Vegetation.

Vegetation plays a pivotal role in fluvial and coastal flows, affecting their structure and turbulence, thus having a strong impact on the processes of transport and diffusion of nutrients and sediments, as well as on ecosystems and habitats. In the present experimental study, the attenuation of regular waves propagating in a channel through flexible vegetation is investigated. Specifically, artificial plants mimicking Spartina maritima are considered. Different plant densities and arrangements are tested, as well as different submergence ratios. Measurements of wave characteristics by six wave gauges, distributed all along the vegetated stretch, allow us to estimate the wave energy dissipation. The flow resistance opposed by vegetation is inferred by considering that drag and dissipation coefficients are strictly related. The submergence ratio and the stem density, rather than the wave characteristics, affect the drag coefficient the most. A comparison with the results obtained in the case when the same vegetation is placed in a uniform flow is also shown. It confirms that the drag coefficient for the canopy is lower than for an isolated cylinder, even if the reduction is not affected by the stem density, underlining that flow unsteadiness might be crucial in the process of dissipation

Modelling of Helium-mediated Quench Propagation in the LHC Prototype Test String-1

The Large Hadron Collider (LHC) prototype test string-1, hereafter referred to as the string, is composed of three ten-meter long prototype dipole magnets and one six-meter long prototype quadrupole magnet. The magnets are immersed in a pressurized static bath of superfluid helium that is maintained at a pressure of about 1 bar and at a temperature of about 1.9 K. This helium bath constitutes one single hydraulic unit, extending along the 42.5 m of the string length. We have measured the triggering of quenches of the string magnets due to the quenching of a single dipole magnet located at the string's extremity; i.e. "quench propagation". Previously reported measurements enabled to establish that in this configuration the quench propagation is mediated by the helium and not by the inter-magnet busbar connections [1], [2]. We present a model of helium mediated quench propagation based on the qualitative conclusions of these two previous papers, and on additional information gained from a dedicated series of quench propagation measurements that were not previously reported. We will discuss the specific mechanisms and their main parameters involved at different time scales of the propagation process, and apply the model to make quantitative predictions