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Characterization of high-quality Rare Disease Registries by using a data mining approach
No full textIntroduction: Rare Diseases Registries (RDRs) are important epidemiological tools for health policy makers and researchers working in the field of low prevalence diseases. The quality of procedures used when a RDR is defined and also during the first steps of their development sets the basis for its success and it is at the same time the best way to guarantee the long-term sustainability. Therefore the quality of RDRs is one of the key questions to be assured and designed during the first steps of their design. Aim of the study: To provide information useful to characterize high-quality RDRs by using an analytical approach Methods: At first, a score of quality was defined by choosing a small set of variables derived by the EPIRARE Survey and related to quality assurance, quality control and quality assessment. In a second step, the random forest (RF) method was applied to the Survey data, so that, starting from the entire set of 223 variables, a subset of variables can be identified as the most informative to afford a reliable characterization of different levels of quality. In the third step, the presence of statistically significant associations between each variable identified by RF and the indicator of quality of RDR were checked with a Chi-square or Fisher exact test. Then the Cochran-Armitage test was also carried out to identify the presence of a linear trend. Results: Out of the 223 variables RF identified a subset of 47 informative variables. Statistically significant associations are identified between 44 variables (out of 47) and the indicator of quality. A significant linear trend is observed for 43 variables, most of them showing a strong evidence (p<0.001). This set of variables was useful to characterize high-quality RDRs that seem to pay much attention to: ethical and legal issues (protocol approved by Ethical Committee), governance (Main Governing Board executing all the main functions and composed by internal members and external experts), communication of the activities (scientific meetings, scientific journals, website), access to data and security, sustainability. These findings are in line with the results of similar researches on disease registries [1], highlighting that quality is usually associated with a good oversight and governance mechanism and would benefit from a support in organization and management, information technology, epidemiology, and statistics.
Health Impact Assessment Practice and Potential for Integration within Environmental Impact and Strategic Environmental Assessments in Italy
Get PDFAvoiding or minimizing potential environmental impact is the driving idea behind protecting a population\u27s health via Environmental Impact Assessments (EIAs) and Strategic Environmental Assessments (SEAs). However, both are often carried out without any systematic approach. This paper describes the findings of a review of HIA, EIA and SEA experiences carried out by the authors, who act as institutional competent subjects at the national and regional levels in Italy. The analysis of how health is tackled in EIA and SEA procedures could support the definition of a protocol for the integration of HIA with EIA and SEA. Although EIA and SEA approaches include the aim of protecting health, significant technical and methodological gaps are present when assessing health systematically, and their basic principles regarding assessment are unsatisfactory for promoting and addressing healthcare concepts stated by the WHO. HIA is still poorly integrated into the decision-making process, screening and monitoring phases are only occasionally implemented, and operational details are not well-defined. The collaborative approach of institutions involved in environment and health is a core element in a systematic advancement toward supporting effective decisions and effective protection of the environment and health. At the Italian national level, the definition of guidelines and tools for HIA, also in relation with EIA and SEA, is of great interest
Vascular Injury Post Stent Implantation: Different Gene Expression Modulation in Human Umbilical Vein Endothelial Cells (HUVECs) Model
Get PDFTo explore whether stent procedure may influence transcriptional response of endothelium, we applied different physical(flow changes) and/or mechanical (stent application) stimuli to human endothelial cells in a laminar flow bioreactor (LFB) system. Gene expression analysis was then evaluated in each experimental condition. Human umbilical vein endothelial cells (HUVECs) were submitted to low and physiological (1 and 10 dyne/cm2) shear stress in absence (AS) or presence (PS) of stent positioning in a LFB system for 24 h. Different expressed genes, coming from Affymetrix results, were identified based on one-way ANOVA analysis with p values ,0.01 and a fold changed .3 in modulus. Low shear stress was compared with physiological one in AS and PS conditions. Two major groups include 32 probes commonly expressed in both 1AS versus 10AS and 1PS versus 10PS comparison, and 115 probes consisting of 83 in addition to the previous 32, expressed only in 1PS versus 10PS comparison. Genes related to cytoskeleton, extracellular matrix, and cholesterol transport/metabolism are differently regulated in 1PS versus 10PS condition. Inflammatory and apoptotic mediators seems to be, instead, closely modulated by changes in flow (1 versus 10), independently of stent application. Low shear stress together with stent procedure are the experimental conditions that mainly modulate the highest number of genes in our human endothelial model. Those genes belong to pathways specifically involved in the endothelial dysfunction
Pathway landscapes and epigenetic regulation in breast cancer and melanoma cell lines
Get PDFBackground Epigenetic variation is a main regulation mechanism of gene expression in various cancer histotypes, and due to its reversibility, the potential impact in therapy can be very relevant. Methods Based on a selected pair, breast cancer (BC) and melanoma, we conducted inference analysis in parallel on a few cell lines (MCF-7 for BC and A375 for melanoma). Starting from differential expression after treatment with a demethylating agent, the 5-Aza-2\u27-deoxycytidine (DAC), we provided pathway enrichment analysis and gene regulatory maps with cross-linked microRNAs and transcription factors. Results Several oncogenic signaling pathways altered upon DAC treatment were detected with significant enrichment. We represented the association between these cancers by depicting the landscape of common and specific variation affecting them
Two-dimensional Wordlikeness Effects in Lexical Organisation
No full textThe main focus of research on wordlikeness has been on how serial processing strategies affect perception of similarity and, ultimately, the global network of associative relations among words in the mental lexicon. Comparatively little effort has been put so far, however, into an analysis of the reverse relationship: namely, how global organisation effects influence the speakers\u27 perception of word similarity and of words\u27 internal structure. In this paper, we explore the relationship between the two dimensions of wordlikeness (the "syntagmatic" and the "paradigmatic" one), to suggest that the same set of principles of memory organisation can account for both dimensions.Gran parte dei lavori sulla nozione di "familiarit? lessicale" ha analizzato come le strategie di elaborazione seriale influenzino la percezione della similarit? all\u27interno della rete di relazioni formali nel lessico mentale. Poca attenzione ? stata tuttavia dedicata finora a come queste relazioni globali influenzino la percezione della similarit? lessicale. L\u27articolo esplora questa interconnessione tra relazioni sintagmatiche e paradigmatiche, attribuendola a un insieme omogeneo di principi per l\u27organizzazione della memoria seriale
A criticism to Society (as seen by Twitter analytics)
Get PDFAnalytic tools are beginning to be largely employed, given their ability to rank, e.g., the visibility of social media users. Visibility that, in turns, can have a monetary value, since social media popular people usually either anticipate or establish trends that could impact the real world (at least, from a consumer point of view). The above rationale has fostered the flourishing of private companies providing statistical results for social media<br>analysis. These results have been accepted, and largely diffused, by media without any apparent scrutiny, while Academia has moderately focused its attention on this phenomenon. In this paper, we provide evidence that analytic results provided by field-flagship companies are questionable (at least). In particular, we focus on Twitter and its "fake followers". We survey popular Twitter analytics that count the fake followers of some target account. We perform a series of experiments aimed at verifying the trustworthiness of their results. We compare the results of such tools with a machine-learning classifier whose methodology bases on scientific basis and on a sound sampling<br>scheme. The findings of this work call for a serious re-thinking of the methodology currently used by companies providing analytic results, whose present deliveries seem to lack on any reliability
A Fake Follower Story: improving fake accounts detection on Twitter
Get PDFFake followers are those Twitter accounts created to inflate the number of followers of a target account. Fake followers are dangerous to the social platform and beyond, since they may alter concepts like popularity and influence in the Twittersphere-hence impacting on economy, politics, and Society. In this paper, we contribute along different dimensions. First, we review some of the most relevant existing features and rules (proposed by Academia and Media) for anomalous Twitter accounts detection. Second, we create a gold standard of verified human and fake accounts. Then, we exploit the gold standard to train a set of machine-learning classifiers built over the reviewed rules and features. Most of the rules provided by Media provide unsatisfactory performance in revealing fake followers, while features provided by Academia for spam detection result in good performance. Building on the most promising features, we optimise the classifiers both in terms of reduction of overfitting and costs for gathering the data needed to compute the features.<br>The final result is a "Class A" classifier, that is general enough to thwart overfitting and that uses the less costly features, while being able to correctly classify more than 95% of the accounts of the training set.<br>The findings reported in this paper, other than being supported by a thorough experimental methodology and being interesting on their own, also pave the way for further investigatio
An Expertise-driven Authoring Tool of Privacy Policies for e-Health
Get PDFData sharing on the Internet is crucial in manyaspects of nowadays life, from economy to leisure, from public administration to healthcare. However, it implies several privacy issues that have to be managed. Definition of appropriate policies helps to safeguard the data privacy. This paper describes an authoring tool for privacy policies to be applied to the healthcare scenario. The tool exhibits two different interfaces, designed according to specific expertise of the policy authors. It is part of a general framework for editing, analysis, and enforcement of privacy policies. Furthermore, this serves as a first brick for a usability study on such tools
Suppression Of underwater Noise Induced by Cavitation: validation studies
No full textThe work documented herein concerns the research activity undertaken by CNR INSEAN in the framework of a round robin test campaign around the "Princess Royal" research vessel of the Newcastle University (i.e. Project Task 1.3). The survey was carried out in the Large Cavitation Channel of CNR INSEAN. Main results and conclusions of the experimental work are summarized as follows: ? Cavitation observations and acoustic measurements. A comprehensive analysis of the radiated underwater noise and cavitation characteristics was performed for five different propeller power conditions, relative to 2.23%, 3.45%, 6.9%, 16.1% and 31.98% MCR. Acoustic measurements were performed by three hydrophones located downstream of the hull model. Cavitation phenomena appear more intense when the blade is run over the hull perturbation and in the region where the hydrodynamic loads are largest (propeller rotation outward region). Acoustic tests highlighted an evident effect of the cavitation noise at the highest the power conditions. Depending on both cavitation characteristics, the corresponding distributions of the SPL are characterized by the increase of the broadband contribution in the mid and high frequency range as well as by a significant increase of the tonal contribution at the BPF . ? Pressure fluctuation measurements on the hull plate. Pressure fluctuation measurements were undertaken by 7 pressure transducers positioned on the hull plate at the same conditions of the acoustic tests. The strongest pressure pulses are found above the propeller location and on the plane immediately downstream. In particular, the highest peak-to-peak intensity is measured on the transducer positioned on the internal side of the demi-hull, in correspondence of the region where propeller blades experience the strongest loading fluctuations. The intensity of the pressure fluctuations keeps about constant at the low MCR rates and, then, undertakes a substantial increase when the rate of propeller power is further increased. ? Velocity measurements on the hull plate. Phase locked velocity measurements were performed by LDV along a transversal plane just downstream of the propeller trailing edge. The survey was undertaken for three advance ratios, corresponding to low-, design and high- propeller loading conditions. At the design and at the low loading conditions the velocity exhibits the maximum values in correspondence of the propeller rotation port side region where the azimuthal inflow component is adverse to the propeller rotation. A different behavior is observed for the high loading condition. The distribution of the standard deviation reveals a maximum of the turbulence intensity in correspondence of the tip vortex and, in particular, when the tip vortex interacts with the hull wake
Development of Experimental Procedures for Suppression Of underwater Noise Induced by Cavitation
No full textThe work documented herein concerns the research activity undertaken by CNR INSEAN about the development, assessment and application of non-conventional experimental approaches and methodologies to investigate underwater noise phenomena. The survey was carried out in the Large Cavitation Channel of CNR INSEAN. Main results and conclusions of the experimental work are summarized as follows: ? Cavitation observations and acoustic measurements for a reference test case represented by a scale model of the STREAMLINE tanker. A comprehensive analysis of the radiated underwater noise and cavitation characteristics was performed at three different acceleration rates of the vessel and at different levels of the static pressure in the facility. Cavitation phenomena appear more intense when the blade is run over the hull perturbation and in the region where the hydrodynamic loads are largest. Acoustic tests highlighted an evident effect of the cavitation noise at the propeller speeds of 10rps and 12rps when the static pressure is dropped down below 106mbar and 173mbar. Depending on both cavitation characteristics, the corresponding distributions of the SPL are characterized by the increase of the broadband contribution in the mid and high frequency range as well as by a significant increase of the tonal contribution at the BPF . ? Background noise removal technique to filter out the contribution of extraneous noise source contributions from the "true" hydroacoustic perturbation. The methodology, which consists of a spectral conditioning technique among correlated inputs, was tested using the STREAMLINE tanker in absence of propeller as test case and returned an attenuation by about 5dB and 10db in correspondence of the peaks at 100 and 400Hz. The effectiveness of the background noise removal procedure has been observed to be strongly influenced by the accuracy at which the background noise is measured. ? Separation of the acoustic and hydrodynamic contributions from near field pressure fluctuation measurements to allow a detailed analysis of the mechanism underlying the hydrodynamic and hydroacoustic perturbations. The methodology is based upon near field pressure fluctuation measurements and wavelet-based post-processing techniques. The technique was applied to the study of the acoustic and hydrodynamic perturbations in the STREAMLINE tanker and highlighted the occurrence of distinct mechanisms behind the hydrodynamic and acoustic pressure fluctuations