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Analyzing rare diseases terms in biomedical terminologies Analizzare la terminologia biomedica sulle malattie rare
Erika Pasceri
JLIS.it , 2012, DOI: 10.4403/jlis.it-4783
Abstract: Rare disease patients too often face common problems, including the lack of access to correct diagnosis, lack of quality information on the disease, lack of scientific knowledge of the disease, inequities and difficulties in access to treatment and care. These things could be changed by implementing a comprehensive approach to rare diseases, increasing international cooperation in scientific research, by gaining and sharing scientific knowledge about and by developing tools for extracting and sharing knowledge. A significant aspect to analyze is the organization of knowledge in the biomedical field for the proper management and recovery of health information. For these purposes, the sources needed have been acquired from the Office of Rare Diseases Research, the National Organization of Rare Disorders and Orphanet, organizations that provide information to patients and physicians and facilitate the exchange of information among different actors involved in this field. The present paper shows the representation of rare diseases terms in biomedical terminologies such as MeSH, ICD-10, SNOMED CT and OMIM, leveraging the fact that these terminologies are integrated in the UMLS. At the first level, it was analyzed the overlap among sources and at a second level, the presence of rare diseases terms in target sources included in UMLS, working at the term and concept level. We found that MeSH has the best representation of rare diseases terms. Pazienti affetti da malattie rare molto spesso affrontano problemi comuni, tra cui la mancanza di accesso alla diagnosi corretta, la mancanza di informazioni di qualità sulla malattia, la mancanza di conoscenze scientifiche, e le difficoltà di accesso al trattamento e cura. Inadempienze e lacune che potrebbero essere colmate mediante l'attuazione di un approccio globale alle malattie rare, aumentando la cooperazione internazionale nella ricerca scientifica e lo sviluppo di strumenti per l'estrazione e la condivisione delle conoscenze. Il saggio analizza l’uso dei termini riguardanti le malattie rare in terminologie biomediche come MeSH, ICD-10, SNOMED CT e OMIM, sfruttando il fatto che queste terminologie sono integrate negli UMLS. Al primo livello, è stata analizzata la sovrapposizione tra le fonti e, ad un secondo livello, la presenza di termini riguardanti malattie rare nelle fonti target incluse nella UMLS. A tal fine, MeSH risulta avere la migliore rappresentazione di termini riguardanti le malattie rare.
MicroRNA-1 Downregulation Increases Connexin 43 Displacement and Induces Ventricular Tachyarrhythmias in Rodent Hypertrophic Hearts
Antonio Curcio, Daniele Torella, Claudio Iaconetti, Eugenia Pasceri, Jolanda Sabatino, Sabato Sorrentino, Salvatore Giampà, Mariella Micieli, Alberto Polimeni, Beverley J. Henning, Angelo Leone, Daniele Catalucci, Georgina M. Ellison, Gianluigi Condorelli, Ciro Indolfi
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0070158
Abstract: Downregulation of the muscle-specific microRNA-1 (miR-1) mediates the induction of pathologic cardiac hypertrophy. Dysfunction of the gap junction protein connexin 43 (Cx43), an established miR-1 target, during cardiac hypertrophy leads to ventricular tachyarrhythmias (VT). However, it is still unknown whether miR-1 and Cx43 are interconnected in the pro-arrhythmic context of hypertrophy. Thus, in this study we investigated whether a reduction in the extent of cardiac hypertrophy could limit the pathological electrical remodeling of Cx43 and the onset of VT by modulating miR-1 levels. Wistar male rats underwent mechanical constriction of the ascending aorta to induce pathologic left ventricular hypertrophy (LVH) and afterwards were randomly assigned to receive 10mg/kg valsartan, VAL (LVH+VAL) delivered in the drinking water or placebo (LVH) for 12 weeks. Sham surgery was performed for control groups. Programmed ventricular stimulation reproducibly induced VT in LVH compared to LVH+VAL group. When compared to sham controls, rats from LVH group showed a significant decrease of miR-1 and an increase of Cx43 expression and its ERK1/2-dependent phosphorylation, which displaces Cx43 from the gap junction. Interestingly, VAL administration to rats with aortic banding significantly reduced cardiac hypertrophy and prevented miR-1 down-regulation and Cx43 up-regulation and phosphorylation. Gain- and loss-of-function experiments in neonatal cardiomyocytes (NCMs) in vitro confirmed that Cx43 is a direct target of miR-1. Accordingly, in vitro angiotensin II stimulation reduced miR-1 levels and increased Cx43 expression and phosphorylation compared to un-stimulated NCMs. Finally, in vivo miR-1 cardiac overexpression by an adenoviral vector intra-myocardial injection reduced Cx43 expression and phosphorylation in mice with isoproterenol-induced LVH. In conclusion, miR-1 regulates Cx43 expression and activity in hypertrophic cardiomyocytes in vitro and in vivo. Treatment of pressure overload-induced myocyte hypertrophy reduces the risk of life-threatening VT by normalizing miR-1 expression levels with the consequent stabilization of Cx43 expression and activity within the gap junction.
Effect of user fee on patient’s welfare and efficiency in a two tier health care market  [PDF]
Eugenia Amporfu
Health (Health) , 2010, DOI: 10.4236/health.2010.29164
Abstract: This is a theoretical paper examining the effect of user fee on patients’ welfare and social welfare under three forms of provider reimbursements: full cost, prospective payment and cost sharing. The paper extends Rickman and McGuire (1999) by introducing user fee to the public sector and maintaining the assumption that providers can work in both the private and public health sectors. Contrary to previous studies, this study shows that efficiency is possible under the full cost reimbursement. The paper also shows the conditions under which efficiency is possible under each reimbursement scheme. Patient’s welfare can improve with the introduction of user fee when services in the public and private sector are complementary.
Estimating the effect of early discharge policy on readmission rate. An instrumental variable approach  [PDF]
Eugenia Amporfu
Health (Health) , 2010, DOI: 10.4236/health.2010.25075
Abstract: Early discharge policy, common in the developed countries, refers to the reduction of hospital length of stay as a way of reducing the cost of care. The effect of the policy on quality of care has received a lot of attention in the literature. Some of the earlier papers have ignored the endogeneity of length of stay in the readmission equation, an approach that could lead to inconsistent estimation. This study develops a statistical technique for the consistent estimation of the effect of the early discharge policy. An instrument that can be used extensively across different diagnostic groups is provided, hence solving the difficult problem of finding an instrument for length of stay. The exogeneity test in Gorgger (1990), the test for weak instruments in Staiger and Stock (1997) as well as the Hensen (1982) for over identification confirmed respectively that length of stay is endogenous the instrument is strong and the valid.
A theoretical analysis of how user fee on healthcare can waste economic resources  [PDF]
Eugenia Amporfu
Health (Health) , 2014, DOI: 10.4236/health.2014.61020
Abstract: The difficulty of assessing funds to directly fund healthcare for the poor makes governments adopt user fee in the health system. Many studies have shown how user fee can cause the poor to under utilize healthcare but not on how it can lead to the waste of resources. The current study is theoretical and it examines the efficiency of regulated user fee and the factors affecting the efficiency. Efficiency focused mainly on the extent to which resources are wasted as a result of regulated user fee. The results show that the asymmetric information between the provider of healthcare and the patient combined with the costliness of investigation by the government as well as the costliness of revenue collection caused three sources of waste: excessive treatment of the rich or the non-poor, investigation and revenue collection. Comparative statics were done to examine the effect of various factors on the level of waste. The study then examined the conditions under with regulated user fee is more efficient than direct financing of healthcare by the government. Some recommendations were made to reduce wastes.
Educational Milieu Formation: Social and Cultural Aspects  [PDF]
Eugenia V. Listvina
Open Journal of Social Sciences (JSS) , 2014, DOI: 10.4236/jss.2014.25012
Abstract: This paper presents the interrelationship between the concepts of educational milieu and educational area, characterized by systematic, internal integrity. The attempt is also undertaken to specify the relationship of the educational milieu with the determination of the culture role in the education itself. The author notes the fundamental role of cultural and mental components inscribed in the very structure of the educational milieu in the process of getting education. In the context of educational process elements unification educational milieu contributes to the preservation of the socio-cultural persistent forms developed on the basis of cultural traditions.
The Assessment of Localized Clustering of Photovoltaic Plants in Italy: The Role of Financial Incentives  [PDF]
Annalina Sarra, Eugenia Nissi
Open Journal of Statistics (OJS) , 2013, DOI: 10.4236/ojs.2013.36A003

In recent years, the rapid growth of renewable energy sources (photovoltaic, biomass, geothermal, wind and hydroelectricity) constitutes a feasible solution for environmental problems created by the present production-consumption energy model. Photovoltaic (PV) is one of the most promising, renewable energy sources with great potential for development. Over the last decade, the diffusion of photovoltaic installations in Italy has recorded a considerable increase, displaying at the same time substantial regional dissimilarities. In this paper, we sustain the hypothesis that the installation of PV plants is first of all driven by the financial incentives granted. Using data for Italian provinces, derived under two different editions of the Energy Account, which represents the current Italian financing mechanism, we apply a statistical cluster detection method (the spatial elliptic scan statistics) to identify differences in the spatial distribution of PV plants, in terms of most concentration, throughout the Italian territory. The focus is on mapping the clusters and checking their spatial stability over time, when different subsidy schemes have been adopted. The evidence shows that in the latest detected clusters there are many Northern Italian provinces, with adverse climate conditions (low global irradiance level, low annual temperatures), which have rapidly taken advantage of incentives for solar energy installations.

Technological Use Behaviors, Internet Addiction and Personality among Italian University Students  [PDF]
Eugenia Treglia, Rosella Tomassoni
Psychology (PSYCH) , 2018, DOI: 10.4236/psych.2018.93029
Abstract: Aims of this study are to evaluate the technological use behaviors among university students and the relationship between the type of use/abuse of internet and some personality characteristics. The sample consists of 435 Italian university students. The Multidimensional Personality Profile (MPP) test and the Questionnaire about the Internet use, abuse and addiction (UADI), have been administered online but in the experimenter’s presence. The use of the Internet in our sample is mainly not a problematical one. Significant correlations were found between Self regulation and Dissociation (r = -0.36) and between Machiavellism/cynism and Escape (r = 0.36), Dissociation (r = 0.33) and Experimentation (r = 0.34). The results of the correlations suggest that the more people are able to set purposes, monitor actions, organise and deal with matters with order and method (Self-Regulation), the less they will tend to have dissociative experiences connected to the use of Internet (Dissociation). A high level of cynicism correspond a high tendency to use Internet to escape from reality, a high tendency to dissociation and to aggressive/transgressive behaviours online. In conclusion it is necessary to consider the complex psychological dynamics in the relationship between the subject and the technological tool.
Rapid Transcriptional Pulsing Dynamics of High Expressing Retroviral Transgenes in Embryonic Stem Cells
Mandy Y. M. Lo, Sylvie Rival-Gervier, Peter Pasceri, James Ellis
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0037130
Abstract: Single cell imaging studies suggest that transcription is not continuous and occurs as discrete pulses of gene activity. To study mechanisms by which retroviral transgenes can transcribe to high levels, we used the MS2 system to visualize transcriptional dynamics of high expressing proviral integration sites in embryonic stem (ES) cells. We established two ES cell lines each bearing a single copy, self-inactivating retroviral vector with a strong ubiquitous human EF1α gene promoter directing expression of mRFP fused to an MS2-stem-loop array. Transfection of MS2-EGFP generated EGFP focal dots bound to the mRFP-MS2 stem loop mRNA. These transcription foci colocalized with the transgene integration site detected by immunoFISH. Live tracking of single cells for 20 minutes detected EGFP focal dots that displayed frequent and rapid fluctuations in transcription over periods as short as 25 seconds. Similarly rapid fluctuations were detected from focal doublet signals that colocalized with replicated proviral integration sites by immunoFISH, consistent with transcriptional pulses from sister chromatids. We concluded that retroviral transgenes experience rapid transcriptional pulses in clonal ES cell lines that exhibit high level expression. These events are directed by a constitutive housekeeping gene promoter and may provide precedence for rapid transcriptional pulsing at endogenous genes in mammalian stem cells.
Notas sobre las relaciones sociales y la organización administrativa del espacio en la campa?a mendocina en los inicios del proceso revolucionario (1810-1814)
Mundo agrario , 2008,
Abstract: the present work analyze certain facts on the social relationships that give the census at the end of 1810 and the beginning of 1814 en mendoza articulated with the administrative reforms that pretended to control de population on a raising of civic urgencies context. its belief that even with the "photographic" defects of a synchronic look its interesting to start this analysis, as it gives an approaching to the reality that the local elite on a re-composition process had to face to re-unite resources and achieve a disciplinement that assured the governability during the independence tournabout.
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