Showing papers by "University of Bologna published in 2009"

Guidelines for the diagnosis and treatment of pulmonary hypertension: the Task Force for the Diagnosis and Treatment of Pulmonary Hypertension of the European Society of Cardiology (ESC) and the European Respiratory Society (ERS), endorsed by the International Society of Heart and Lung Transplantation (ISHLT)

Abstract: Guidelines and Expert Consensus Documents summarize and evaluate all currently available evidence on a particular issue with the aim to assist physicians in selecting the best management strategies for a typical patient, suffering from a given condition, taking into account the impact on outcome, as well as the risk/benefit ratio of particular diagnostic or therapeutic means. Guidelines are no substitutes for textbooks. The legal implications of medical guidelines have been discussed previously. A great number of Guidelines and Expert Consensus Documents have been issued in recent years by the European Society of Cardiology (ESC) as well as by other societies and organizations. Because of the impact on clinical practice, quality criteria for development of guidelines have been established in order to make all decisions transparent to the user. The recommendations for formulating and issuing ESC Guidelines and Expert Consensus Documents can be found on the ESC website (http://www.escardio.org/knowledge/guidelines). In brief, experts in the field are selected and undertake a comprehensive review of the published evidence for management and/or prevention of a given condition. Unpublished clinical trial results are not taken into account. A critical evaluation of diagnostic and therapeutic procedures is performed including assessment of the risk/benefit ratio. Estimates of expected health outcomes for larger societies are included, where data exist. The level of evidence and the strength of recommendation of particular treatment options are weighed and graded according to predefined scales, as outlined in Tables 1 and 2 . View this table: Table 1 Classes of recommendations View this table: Table 2 Levels of evidence The experts of the writing panels have provided disclosure statements of all relationships they may have which might be perceived as real or potential sources of conflicts of interest. These disclosure forms are kept on file at the European Heart House, headquarters of the ESC. Any changes in conflict of interest that arise …

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis.

Abstract: Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder Ten percent of cases are inherited; most involve unidentified genes We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS The FUS/TLS protein binds to RNA, functions in diverse processes, and is normally located predominantly in the nucleus In contrast, the mutant forms of FUS/TLS accumulated in the cytoplasm of neurons, a pathology that is similar to that of the gene TAR DNA-binding protein 43 (TDP43), whose mutations also cause ALS Neuronal cytoplasmic protein aggregation and defective RNA metabolism thus appear to be common pathogenic mechanisms involved in ALS and possibly in other neurodegenerative disorders

Mindfulness-based stress reduction for stress management in healthy people: A review and meta-analysis.

Abstract: Background: Mindfulness-based stress reduction (MBSR) is a clinically standardized meditation that has shown consistent efficacy for many mental and physical disorders. Less attention has been given to the possible benefits that it may have in healthy subjects. The aim of the present review and meta-analysis is to better investigate current evidence about the efficacy of MBSR in healthy subjects, with a particular focus on its benefits for stress reduction. Materials and methods: A literature search was conducted using MEDLINE (PubMed), the ISI Web of Knowledge, the Cochrane database, and the references of retrieved articles. The search included articles written in English published prior to September 2008, and identified ten, mainly low-quality, studies. Cohen's d effect size between meditators and controls on stress reduction and spirituality enhancement values were calculated. Results: MBSR showed a nonspecific effect on stress reduction in comparison to an inactive control, both in reducing s...

Chronic Myeloid Leukemia: An Update of Concepts and Management Recommendations of European LeukemiaNet

Abstract: Purpose To review and update the European LeukemiaNet (ELN) recommendations for the management of chronic myeloid leukemia with imatinib and second-generation tyrosine kinase inhibitors (TKIs), including monitoring, response definition, and first- and second-line therapy. Methods

Catalytic Functionalization of Indoles in a New Dimension

Abstract: 140 years ago Adolf von Baeyer proposed the structure of a heteroaromatic compound which revolutionized organic and medical chemistry: indole. After more than a century, indole itself and the complexity of naturally occurring indole derivatives continue to inspire and influence developments in synthetic chemistry. In particular, the ubiquitous presence of indole rings in pharmaceuticals, agrochemicals, and functional materials are testament to the ever increasing interest in the design of mild and efficient synthetic routes to functionalized indole derivatives. This Review emphasizes the achievements in the selective catalytic functionalization of indoles (C-C bond-forming processes) over the last four years.

The WaCky wide web: a collection of very large linguistically processed web-crawled corpora

Abstract: This article introduces ukWaC, deWaC and itWaC, three very large corpora of English, German, and Italian built by web crawling, and describes the methodology and tools used in their construction. The corpora contain more than a billion words each, and are thus among the largest resources for the respective languages. The paper also provides an evaluation of their suitability for linguistic research, focusing on ukWaC and itWaC. A comparison in terms of lexical coverage with existing resources for the languages of interest produces encouraging results. Qualitative evaluation of ukWaC versus the British National Corpus was also conducted, so as to highlight differences in corpus composition (text types and subject matters). The article concludes with practical information about format and availability of corpora and tools.

Statistical applications of the multivariate skew-normal distribution

Abstract: Azzalini & Dalla Valle (1996) have recently discussed the multivariate skew-normal distribution which extends the class of normal distributions by the addition of a shape parameter. The first part of the present paper examines further probabilistic properties of the distribution, with special emphasis on aspects of statistical relevance. Inferential and other statistical issues are discussed in the following part, with applications to some multivariate statistics problems, illustrated by numerical examples. Finally, a further extension is described which introduces a skewing factor of an elliptical density.

Reappraisal of European guidelines on hypertension management: a European Society of Hypertension Task Force document.

Abstract: Abbreviations ACE: angiotensin-converting enzyme; BP: blood pressure; DBP: diastolic blood pressure; eGFR: estimated glomerular filtration rate; ESC: European Society of Cardiology; ESH: European Society of Hypertension; ET: endothelin; IMT: carotid intima-media thickness; JNC: Joint National Commit

Tadalafil Therapy for Pulmonary Arterial Hypertension

Abstract: Background— Treatment options for pulmonary arterial hypertension target the prostacyclin, endothelin, or nitric oxide pathways. Tadalafil, a phosphodiesterase type-5 inhibitor, increases cGMP, the final mediator in the nitric oxide pathway. Methods and Results— In this 16-week, double-blind, placebo-controlled study, 405 patients with pulmonary arterial hypertension (idiopathic or associated), either treatment-naive or on background therapy with the endothelin receptor antagonist bosentan, were randomized to placebo or tadalafil 2.5, 10, 20, or 40 mg orally once daily. The primary end point was the change from baseline to week 16 in the distance walked in 6 minutes. Changes in World Health Organization functional class, clinical worsening, and health-related quality of life were also assessed. Patients completing the 16-week study could enter a long-term extension study. Tadalafil increased the distance walked in 6 minutes in a dose-dependent manner; only the 40-mg dose met the prespecified level of statistical significance ( P P =0.041), incidence of clinical worsening (68% relative risk reduction; P =0.038), and health-related quality of life. The changes in World Health Organization functional class were not statistically significant. The most common treatment-related adverse events reported with tadalafil were headache, myalgia, and flushing. Conclusions— In patients with pulmonary arterial hypertension, tadalafil 40 mg was well tolerated and improved exercise capacity and quality of life measures and reduced clinical worsening.

Ranging With Ultrawide Bandwidth Signals in Multipath Environments

Abstract: Over the coming decades, high-definition situationally-aware networks have the potential to create revolutionary applications in the social, scientific, commercial, and military sectors Ultrawide bandwidth (UWB) technology is a viable candidate for enabling accurate localization capabilities through time-of-arrival (TOA)-based ranging techniques These techniques exploit the fine delay resolution property of UWB signals by estimating the TOA of the first signal path Exploiting the full capabilities of UWB TOA estimation can be challenging, especially when operating in harsh propagation environments, since the direct path may not exist or it may not be the strongest In this paper, we first give an overview of ranging techniques together with the primary sources of TOA error (including propagation effects, clock drift, and interference) We then describe fundamental TOA bounds (such as the Cramer-Rao bound and the tighter Ziv-Zakai bound) in both ideal and multipath environments These bounds serve as useful benchmarks in assessing the performance of TOA estimation techniques We also explore practical low-complexity TOA estimation techniques and analyze their performance in the presence of multipath and interference using IEEE 802154a channel models as well as experimental data measured in indoor residential environments

Optimism, social support, and coping strategies as factors contributing to posttraumatic growth: A meta-analysis

Abstract: This meta-analytic review examines the role of optimism, social support, and coping strategies in contributing to posttraumatic growth. Results from 103 studies showed that all three systems of variables yielded significant effect sizes. Religious coping and positive reappraisal coping produced the largest effect sizes. Social support, seeking social support coping, spirituality, and optimism were moderately related to posttraumatic growth. Acceptance coping yielded the smallest effect sizes. Moderator analyses showed that effect sizes did not differ according to time elapsed since trauma, gender, and type of posttraumatic growth measure (posttraumatic growth vs. benefit finding). Age and gender were significant moderators of religious coping, whereas study design (longitudinal vs. cross-sectional) significantly moderated the effect of positive reappraisal coping. Implications for research and interventions on posttraumatic growth are also discussed.

Genome sequence, comparative analysis, and population genetics of the domestic horse.

Abstract: We report a high-quality draft sequence of the genome of the horse (Equus caballus). The genome is relatively repetitive but has little segmental duplication. Chromosomes appear to have undergone few historical rearrangements: 53% of equine chromosomes show conserved synteny to a single human chromosome. Equine chromosome 11 is shown to have an evolutionary new centromere devoid of centromeric satellite DNA, suggesting that centromeric function may arise before satellite repeat accumulation. Linkage disequilibrium, showing the influences of early domestication of large herds of female horses, is intermediate in length between dog and human, and there is long-range haplotype sharing among breeds.

International Myeloma Working Group guidelines for serum-free light chain analysis in multiple myeloma and related disorders

Abstract: The serum immunoglobulin-free light chain (FLC) assay measures levels of free κ and λ immunoglobulin light chains. There are three major indications for the FLC assay in the evaluation and management of multiple myeloma and related plasma cell disorders (PCD). In the context of screening, the serum FLC assay in combination with serum protein electrophoresis (PEL) and immunofixation yields high sensitivity, and negates the need for 24-h urine studies for diagnoses other than light chain amyloidosis (AL). Second, the baseline FLC measurement is of major prognostic value in virtually every PCD. Third, the FLC assay allows for quantitative monitoring of patients with oligosecretory PCD, including AL, oligosecretory myeloma and nearly two-thirds of patients who had previously been deemed to have non-secretory myeloma. In AL patients, serial FLC measurements outperform PEL and immunofixation. In oligosecretory myeloma patients, although not formally validated, serial FLC measurements reduce the need for frequent bone marrow biopsies. In contrast, there are no data to support using FLC assay in place of 24-h urine PEL for monitoring or for serial measurements in PCD with measurable disease by serum or urine PEL. This paper provides consensus guidelines for the use of this important assay, in the diagnosis and management of clonal PCD.

Cartilage homeostasis in health and rheumatic diseases.

Abstract: As the cellular component of articular cartilage, chondrocytes are responsible for maintaining in a low-turnover state the unique composition and organization of the matrix that was determined during embryonic and postnatal development. In joint diseases, cartilage homeostasis is disrupted by mechanisms that are driven by combinations of biological mediators that vary according to the disease process, including contributions from other joint tissues. In osteoarthritis (OA), biomechanical stimuli predominate with up-regulation of both catabolic and anabolic cytokines and recapitulation of developmental phenotypes, whereas in rheumatoid arthritis (RA), inflammation and catabolism drive cartilage loss. In vitro studies in chondrocytes have elucidated signaling pathways and transcription factors that orchestrate specific functions that promote cartilage damage in both OA and RA. Thus, understanding how the adult articular chondrocyte functions within its unique environment will aid in the development of rational strategies to protect cartilage from damage resulting from joint disease. This review will cover current knowledge about the specific cellular and biochemical mechanisms that regulate cartilage homeostasis and pathology.

Systemic Cardiac Amyloidoses Disease Profiles and Clinical Courses of the 3 Main Types

Abstract: Background— Most studies of amyloidotic cardiomyopathy consider as a single entity the 3 main systemic cardiac amyloidoses: acquired monoclonal immunoglobulin light-chain (AL); hereditary, mutated transthyretin-related (ATTRm); and wild-type transthyretin-related (ATTRwt). In this study, we compared the diagnostic/clinical profiles of these 3 types of systemic cardiac amyloidosis. Methods and Results— We conducted a longitudinal study of 233 patients with clear-cut diagnosis by type of cardiac amyloidosis (AL, n=157; ATTRm, n=61; ATTRwt, n=15) at 2 large Italian centers providing coordinated amyloidosis diagnosis/management facilities since 1990. Average age at diagnosis was higher in AL than in ATTRm patients; all ATTRwt patients except 1 were elderly men. At diagnosis, mean left ventricular wall thickness was higher in ATTRwt than in ATTRm and AL. Left ventricular ejection fraction was moderately depressed in ATTRwt but not in AL or ATTRm. ATTRm patients less often displayed low QRS voltage (25% versus ...

An Overview on Wireless Sensor Networks Technology and Evolution

Abstract: Wireless sensor networks (WSNs) enable new applications and require non-conventional paradigms for protocol design due to several constraints. Owing to the requirement for low device complexity together with low energy consumption (i.e., long network lifetime), a proper balance between communication and signal/data processing capabilities must be found. This motivates a huge effort in research activities, standardization process, and industrial investments on this field since the last decade. This survey paper aims at reporting an overview of WSNs technologies, main applications and standards, features in WSNs design, and evolutions. In particular, some peculiar applications, such as those based on environmental monitoring, are discussed and design strategies highlighted; a case study based on a real implementation is also reported. Trends and possible evolutions are traced. Emphasis is given to the IEEE 802.15.4 technology, which enables many applications of WSNs. Some example of performance characteristics of 802.15.4-based networks are shown and discussed as a function of the size of the WSN and the data type to be exchanged among nodes.

A genome-wide linkage and association scan reveals novel loci for autism

Abstract: Although autism is a highly heritable neurodevelopmental disorder, attempts to identify specific susceptibility genes have thus far met with limited success. Genome-wide association studies using half a million or more markers, particularly those with very large sample sizes achieved through meta-analysis, have shown great success in mapping genes for other complex genetic traits. Consequently, we initiated a linkage and association mapping study using half a million genome-wide single nucleotide polymorphisms (SNPs) in a common set of 1,031 multiplex autism families (1,553 affected offspring). We identified regions of suggestive and significant linkage on chromosomes 6q27 and 20p13, respectively. Initial analysis did not yield genome-wide significant associations; however, genotyping of top hits in additional families revealed an SNP on chromosome 5p15 (between SEMA5A and TAS2R1) that was significantly associated with autism (P = 2 x 10(-7)). We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. The linkage regions reported here provide targets for rare variation screening whereas the discovery of a single novel association demonstrates the action of common variants.

Functional annotations improve the predictive score of human disease-related mutations in proteins

Abstract: Single nucleotide polymorphisms (SNPs) are the simplest and most frequent form of human DNA variation, also valuable as genetic markers of disease susceptibility. The most investigated SNPs are missense mutations resulting in residue substitutions in the protein. Here we propose SNPs&GO, an accurate method that, starting from a protein sequence, can predict whether a mutation is disease related or not by exploiting the protein functional annotation. The scoring efficiency of SNPs&GO is as high as 82%, with a Matthews correlation coefficient equal to 0.63 over a wide set of annotated nonsynonymous mutations in proteins, including 16,330 disease-related and 17,432 neutral polymorphisms. SNPs&GO collects in unique framework information derived from protein sequence, evolutionary information, and function as encoded in the Gene Ontology terms, and outperforms other available predictive methods. Hum Mutat 30:1–8, 2009. © 2009 Wiley-Liss, Inc.

Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.

Abstract: Aneuploidy and translocations are hallmarks of B-progenitor acute lymphoblastic leukemia (ALL), but many individuals with this cancer lack recurring chromosomal alterations. Here we report a recurring interstitial deletion of the pseudoautosomal region 1 of chromosomes X and Y in B-progenitor ALL that juxtaposes the first, noncoding exon of P2RY8 with the coding region of CRLF2. We identified the P2RY8-CRLF2 fusion in 7% of individuals with B-progenitor ALL and 53% of individuals with ALL associated with Down syndrome. CRLF2 alteration was associated with activating JAK mutations, and expression of human P2RY8-CRLF2 together with mutated mouse Jak2 resulted in constitutive Jak-Stat activation and cytokine-independent growth of Ba/F3 cells overexpressing interleukin-7 receptor alpha. Our findings indicate that these two genetic lesions together contribute to leukemogenesis in B-progenitor ALL.

The Chandra COSMOS Survey. I. Overview and Point Source Catalog

Abstract: The Chandra COSMOS Survey (C-COSMOS) is a large, 1.8 Ms, Chandra program that has imaged the central 0.5 deg^2 of the COSMOS field (centered at 10 ^h , +02 ^o ) with an effective exposure of ~160 ks, and an outer 0.4 deg^2 area with an effective exposure of ~80 ks. The limiting source detection depths are 1.9 × 10^(–16) erg cm^(–2) s^(–1) in the soft (0.5-2 keV) band, 7.3 × 10^(–16) erg cm^(–2) s^(–1) in the hard (2-10 keV) band, and 5.7 × 10^(–16) erg cm^(–2) s^(–1) in the full (0.5-10 keV) band. Here we describe the strategy, design, and execution of the C-COSMOS survey, and present the catalog of 1761 point sources detected at a probability of being spurious of <2 × 10^(–5) (1655 in the full, 1340 in the soft, and 1017 in the hard bands). By using a grid of 36 heavily (~50%) overlapping pointing positions with the ACIS-I imager, a remarkably uniform (±12%) exposure across the inner 0.5 deg^2 field was obtained, leading to a sharply defined lower flux limit. The widely different point-spread functions obtained in each exposure at each point in the field required a novel source detection method, because of the overlapping tiling strategy, which is described in a companion paper. This method produced reliable sources down to a 7-12 counts, as verified by the resulting logN-logS curve, with subarcsecond positions, enabling optical and infrared identifications of virtually all sources, as reported in a second companion paper. The full catalog is described here in detail and is available online.

Uncertainty in river discharge observations: a quantitative analysis

Abstract: . This study proposes a framework for analysing and quantifying the uncertainty of river flow data. Such uncertainty is often considered to be negligible with respect to other approximations affecting hydrological studies. Actually, given that river discharge data are usually obtained by means of the so-called rating curve method, a number of different sources of error affect the derived observations. These include: errors in measurements of river stage and discharge utilised to parameterise the rating curve, interpolation and extrapolation error of the rating curve, presence of unsteady flow conditions, and seasonal variations of the state of the vegetation (i.e. roughness). This study aims at analysing these sources of uncertainty using an original methodology. The novelty of the proposed framework lies in the estimation of rating curve uncertainty, which is based on hydraulic simulations. These latter are carried out on a reach of the Po River (Italy) by means of a one-dimensional (1-D) hydraulic model code (HEC-RAS). The results of the study show that errors in river flow data are indeed far from negligible.

Agent-oriented software engineering: the state of the art

Abstract: Software engineers continually strive to develop tools and techniques to manage the complexity that is inherent in software systems. In this article, we argue that intelligent agents and multi-agent systems are just such tools. We begin by reviewing what is meant by the term "agent", and contrast agents with objects.We then go on to examine a number of prototype techniques proposed for engineering agent systems, including methodologies for agent-oriented analysis and design, formal specification and verification methods for agent systems, and techniques for implementing agent specifications.

Measurement of J/psi helicity distributions in inelastic photoproduction at HERA

Abstract: The J/psi decay angular distributions have been measured in inelastic photoproduction in ep collisions with the ZEUS detector at HERA, using an integrated luminosity of 468 pb(-1). The range in photon-proton centre-of-mass energy, W, was 50