Fabry Disease and the Heart: A Comprehensive Review

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene that result in a deficiency of the enzymatic activity of α-galactosidase A and consequent accumulation of glycosphingolipids in body fluids and lysosomes of the cells throughout the body. GB3 accumulation occurs in virtually all cardiac cells (cardiomyocytes, conduction system cells, fibroblasts, and endothelial and smooth muscle vascular cells), ultimately leading to ventricular hypertrophy and fibrosis, heart failure, valve disease, angina, dysrhythmias, cardiac conduction abnormalities, and sudden death. Despite available therapies and supportive treatment, cardiac involvement carries a major prognostic impact, representing the main cause of death in FD. In the last years, knowledge has substantially evolved on the pathophysiological mechanisms leading to cardiac damage, the natural history of cardiac manifestations, the late-onset phenotypes with predominant cardiac involvement, the early markers of cardiac damage, the role of multimodality cardiac imaging on the diagnosis, management and follow-up of Fabry patients, and the cardiac efficacy of available therapies. Herein, we provide a comprehensive and integrated review on the cardiac involvement of FD, at the pathophysiological, anatomopathological, laboratory, imaging, and clinical levels, as well as on the diagnosis and management of cardiac manifestations, their supportive treatment, and the cardiac efficacy of specific therapies, such as enzyme replacement therapy and migalastat.     

Modification of porous copolymers network based on acrylonitrile

Summary The preparation of a chelating ion-exchange network based on acrylonitrile was carried out by chemical modification with hydroxylamine. The beads of resin were synthesized by aqueous suspension copolymerization of acrylonitrile (AN), styrene (STY) and divinylbenzene (DVB). The influence of diluent used in the suspension polymerization on the structure of the resulting copolymers was evaluated. The diluents employed were heptane (HEP), toluene (TOL) and anisole (ANI). It was found that the AN incorporation into copolymer structure was dependent on the diluent used. Conversion of nitrile groups into the amidoxime was conducted by treatment with hydroxylamine under alkaline solution. The resins were characterized by apparent density, surface area, average pore diameter, elemental analysis (CHN), FTIR and optical microscopy. Based on the results obtained, it was possible to control the porosity by diluent employed in the synthesis and to modify chemically a resin containing nitrile groups by hydroxylamine reaction. Received: 6 October 2001/Revised version: 2 April 2002/ Accepted: 11 April 2002     

Learning to rank academic experts in the DBLP dataset

Expert finding is an information retrieval task that is concerned with the search for the most knowledgeable people with respect to a specific topic, and the search is based on documents that describe people's activities. The task involves taking a user query as input and returning a list of people who are sorted by their level of expertise with respect to the user query. Despite recent interest in the area, the current state‐of‐the‐art techniques lack in principled approaches for optimally combining different sources of evidence. This article proposes two frameworks for combining multiple estimators of expertise. These estimators are derived from textual contents, from graph‐structure of the citation patterns for the community of experts and from profile information about the experts. More specifically, this article explores the use of supervised learning to rank methods, as well as rank aggregation approaches, for combining all of the estimators of expertise. Several supervised learning algorithms, which are representative of the pointwise, pairwise and listwise approaches, were tested, and various state‐of‐the‐art data fusion techniques were also explored for the rank aggregation framework. Experiments that were performed on a dataset of academic publications from the Computer Science domain attest the adequacy of the proposed approaches.     

A backstepping controller for path‐tracking of an underactuated autonomous airship

In this paper we propose a nonlinear control approach for the path‐tracking of an autonomous underactuated airship. A backstepping controller is designed from the airship nonlinear dynamic model including wind disturbances, and further enhanced to consider actuators saturation. Control implementation issues related to airship underactuation are also addressed, namely control allocation and an attitude reference shaping to obtain a faster error correction with smoother input requests. The results obtained demonstrate the capacity of an underactuated unmanned airship to execute a realistic mission including vertical take‐off and landing, stabilization and path‐tracking, in the presence of wind disturbances, with a single robust control law. Copyright © 2008 John Wiley & Sons, Ltd.     

Using visual and text features for direct marketing on multimedia messaging services domain

Traditionally, direct marketing companies have relied on pre-testing to select the best offers to send to their audience. Companies systematically dispatch the offers under consideration to a limited sample of potential buyers, rank them with respect to their performance and, based on this ranking, decide which offers to send to the wider population. Though this pre-testing process is simple and widely used, recently the industry has been under increased pressure to further optimize learning, in particular when facing severe time and learning space constraints. The main contribution of the present work is to demonstrate that direct marketing firms can exploit the information on visual content to optimize the learning phase. This paper proposes a two-phase learning strategy based on a cascade of regression methods that takes advantage of the visual and text features to improve and accelerate the learning process. Experiments in the domain of a commercial Multimedia Messaging Service (MMS) show the effectiveness of the proposed methods and a significant improvement over traditional learning techniques. The proposed approach can be used in any multimedia direct marketing domain in which offers comprise both a visual and text component.

A synergy of multi-objective optimization and data mining for the analysis of a flexible flow shop

A method for analyzing production systems by applying multi-objective optimization and data mining techniques on discrete-event simulation models, the so-called Simulation-based Innovization (SBI) is presented in this paper. The aim of the SBI analysis is to reveal insight on the parameters that affect the performance measures as well as to gain deeper understanding of the problem, through post-optimality analysis of the solutions acquired from multi-objective optimization. This paper provides empirical results from an industrial case study, carried out on an automotive machining line, in order to explain the SBI procedure. The SBI method has been found to be particularly suitable in this case study as the three objectives under study, namely total tardiness, makespan and average work-in-process, are in conflict with each other. Depending on the system load of the line, different decision variables have been found to be influencing. How the SBI method is used to find important patterns in the explored solution set and how it can be valuable to support decision making in order to improve the scheduling under different system loadings in the machining line are addressed.     

Local influence in estimating equations

Local influence diagnostics based on estimating equations as the role of a gradient vector derived from any fit function are developed for repeated measures regression analysis. Our proposal generalizes tools used in other studies ( [Cook, 1986] and [Cadigan and Farrell, 2002]), considering herein local influence diagnostics for a statistical model where estimation involves an estimating equation in which all observations are not necessarily independent of each other. Moreover, the measures of local influence are illustrated with some simulated data sets to assess influential observations. Applications using real data are presented.     

A segmentation algorithm for automated tracking of fast swimming unlabelled cells in three dimensions

Recent advances in microscopy and cytolabelling methods enable the real time imaging of cells as they move and interact in their real physiological environment. Scenarios in which multiple cells move autonomously in all directions are not uncommon in biology. A remarkable example is the swimming of marine spermatozoa in search of the conspecific oocyte. Imaging cells in these scenarios, particularly when they move fast and are poorly labelled or even unlabelled requires very fast three-dimensional time-lapse (3D+t) imaging. This 3D+t imaging poses challenges not only to the acquisition systems but also to the image analysis algorithms. It is in this context that this work describes an original automated multiparticle segmentation method to analyse motile translucent cells in 3D microscopical volumes. The proposed segmentation technique takes advantage of the way the cell appearance changes with the distance to the focal plane position. The cells translucent properties and their interaction with light produce a specific pattern: when the cell is within or close to the focal plane, its two-dimensional (2D) appearance matches a bright spot surrounded by a dark ring, whereas when it is farther from the focal plane the cell contrast is inverted looking like a dark spot surrounded by a bright ring. The proposed method analyses the acquired video sequence frame-by-frame taking advantage of 2D image segmentation algorithms to identify and select candidate cellular sections. The crux of the method is in the sequential filtering of the candidate sections, first by template matching of the in-focus and out-of-focus templates and second by considering adjacent candidates sections in 3D. These sequential filters effectively narrow down the number of segmented candidate sections making the automatic tracking of cells in three dimensions a straightforward operation.     

Participation of Danish and immigrant cleaners in a 1-year worksite intervention preventing physical deterioration

Worksite health promotion is seldom offered to workers who are low-educated and multi-ethnic, possibly due to an assumption that they are more reluctant to participate. Furthermore, little has been done to promote health at female-dominated workplaces. The main aim of this study was to investigate differences in participation among immigrant and Danish cleaners throughout a 1-year randomised controlled study tailored to cleaners and carried out in predominantly female workplaces. No significant differences in ethnicity were found in consent and participation throughout the 1-year intervention. Dropout was equally distributed among Danish and immigrant cleaners. This study indicates that a worksite health promotion intervention among a female-dominated, high-risk occupation such as cleaning can be equally appealing for Danes and immigrants. PRACTITIONER SUMMARY: This study provides insight about participation of Danish and immigrant cleaners in a worksite health promotion intervention in a predominantly female occupation. For attaining high participation and low dropout in future worksite health promotion interventions among cleaners, the intervention ought to not only target the ethnic background of the workers, but also to be specifically tailored to the job group.     

Enhanced default risk models with SVM+

Default risk models have lately raised a great interest due to the recent world economic crisis. In spite of many advanced techniques that have extensively been proposed, no comprehensive method incorporating a holistic perspective has hitherto been considered. Thus, the existing models for bankruptcy prediction lack the whole coverage of contextual knowledge which may prevent the decision makers such as investors and financial analysts to take the right decisions. Recently, SVM+ provides a formal way to incorporate additional information (not only training data) onto the learning models improving generalization. In financial settings examples of such non-financial (though relevant) information are marketing reports, competitors landscape, economic environment, customers screening, industry trends, etc. By exploiting additional information able to improve classical inductive learning we propose a prediction model where data is naturally separated into several structured groups clustered by the size and annual turnover of the firms. Experimental results in the setting of a heterogeneous data set of French companies demonstrated that the proposed default risk model showed better predictability performance than the baseline SVM and multi-task learning with SVM.