483 research outputs found

    INQUINAMENTO INDOOR DA RADON. UNA APPLICAZIONE DELLE RETI BAYESIANE A SUPPORTO DELLA DIAGNOSI

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    Nel quadro più generale della tematica del controllo della qualità ambientale e più in particolare dell’Indoor Air Quality, la presente relazione riporta lo studio di un fenomeno di inquinamento da radon riguardante la scuola “G. Mancino” di Palermo. Lo spunto viene offerto dal fatto che nel 2005, nel corso di un monitoraggio della radioattività ambientale di Palermo, i tecnici dell’ARPA Sicilia hanno rilevato in questa scuola elementare degli anni ’30, livelli di radon indoor molto superiori ai limiti di legge fissati dal D.Lgs. 241/2000. Nella prima fase, dopo lo studio delle caratteristiche tipologiche e costruttive del plesso e l’acquisizione dei dati di misura pregressi, si è proceduto ad una nuova campagna di monitoraggio rivolta al rilievo di dati e misure sperimentali sulla presenza del radon indoor e dei dati meteoclimatici del contesto specifico. Nella seconda fase è stata formulata una proposta di intervento sostenuta dall’analisi dei meccanismi di inquinamento attraverso modelli di simulazione. In particolare l’approccio metodologico dello studio procede attraverso lo sviluppo di un modello di analisi basato sulle reti bayesiane, rilevatosi uno strumento utile di supporto per la diagnosi e le conseguenti decisioni progettuali, capace di controllare e descrivere fenomeni complessi e di stimare relazioni probabilistiche tra cause ed effetti

    Factors influencing the first thousand days of life

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    The first 1,000 days is a vulnerable phase in which parents, institutions and health professionals should create early interventions for the proper development and promotion of good health

    Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate

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    Kv7.2 and Kv7.3 subunits underlie the M-current, a neuronal K(+) current characterized by an absolute functional requirement for phosphatidylinositol 4,5-bisphosphate (PIP(2)). Kv7.2 gene mutations cause early-onset neonatal seizures with heterogeneous clinical outcomes, ranging from self-limiting benign familial neonatal seizures to severe early-onset epileptic encephalopathy (Kv7.2-EE). In this study, the biochemical and functional consequences prompted by a recurrent variant (R325G) found independently in four individuals with severe forms of neonatal-onset EE have been investigated. Upon heterologous expression, homomeric Kv7.2 R325G channels were non-functional, despite biotin-capture in Western blots revealed normal plasma membrane subunit expression. Mutant subunits exerted dominant-negative effects when incorporated into heteromeric channels with Kv7.2 and/or Kv7.3 subunits. Increasing cellular PIP(2) levels by co-expression of type 1γ PI(4)P5-kinase (PIP5K) partially recovered homomeric Kv7.2 R325G channel function. Currents carried by heteromeric channels incorporating Kv7.2 R325G subunits were more readily inhibited than wild-type channels upon activation of a voltage-sensitive phosphatase (VSP), and recovered more slowly upon VSP switch-off. These results reveal for the first time that a mutation-induced decrease in current sensitivity to PIP(2) is the primary molecular defect responsible for Kv7.2-EE in individuals carrying the R325G variant, further expanding the range of pathogenetic mechanisms exploitable for personalized treatment of Kv7.2-related epilepsies

    RNAdetector: a free user-friendly stand-alone and cloud-based system for RNA-Seq data analysis

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    Background: RNA-Seq is a well-established technology extensively used for transcriptome profiling, allowing the analysis of coding and non-coding RNA molecules. However, this technology produces a vast amount of data requiring sophisticated computational approaches for their analysis than other traditional technologies such as Real-Time PCR or microarrays, strongly discouraging non-expert users. For this reason, dozens of pipelines have been deployed for the analysis of RNA-Seq data. Although interesting, these present several limitations and their usage require a technical background, which may be uncommon in small research laboratories. Therefore, the application of these technologies in such contexts is still limited and causes a clear bottleneck in knowledge advancement. Results: Motivated by these considerations, we have developed RNAdetector, a new free cross-platform and user-friendly RNA-Seq data analysis software that can be used locally or in cloud environments through an easy-to-use Graphical User Interface allowing the analysis of coding and non-coding RNAs from RNA-Seq datasets of any sequenced biological species. Conclusions: RNAdetector is a new software that fills an essential gap between the needs of biomedical and research labs to process RNA-Seq data and their common lack of technical background in performing such analysis, which usually relies on outsourcing such steps to third party bioinformatics facilities or using expensive commercial software

    Doing time and motion diffractively: Academic life everywhere and all the time

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    This article offers a diffractive methodological intervention into workplace studies of academic life. In its engagement of a playful, performative research and writing practice the article speaks back to technocratic organisational and sociological workplace ‘time and motion’ studies which centre on the human and rational, and presume a linear teleology of cause and effect. As a counterpoint, we deploy posthumanist new materialist research practices which refuse human-centric approaches and aim to give matter its due. As a means to analyse what comes out of our joint workspaces photo project we produce two ‘passes’ through data – two diffractive experiments which destabilise what normally counts as ‘findings’ and their academic presentation. The article deploys the motif of ‘starting somewhere else’ to signal both our intention to keep data animated, alive and interactive, and to utilise visual and written modes of seriality as enabling constraints which produce a more generative focus on the mundane, emergent, unforeseen, and happenstance in studies of daily working life

    Cognitive thought diary in supportive psychology for people undergoing radiotherapy: a feasibility study.

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    BAC KGROUND: Radiation therapy (RT ) has become one of the most widely-used and efficient treatments for cancer; nevertheless, people who undergo radiotherapy suffer the physical and psychological consequences of this stressful treatment, in addition to the psychosocial distress related to cancer. However, a Radiotherapy Unit is often a place where several patients crowd in from various hospitals with restricted timetables and, for logistic reasons, it is not easy to provide regular psychological sessions for each one. It is important to find a setting that allows us the involvement of the largest number of patients referred to the unit. In this study, we aimed to evaluate the feasibility and the effect of a brief intervention of cognitive-oriented diary on the quality of life, anxiety and depressive symptoms of patients undergoing radiotherapy (RT ), compared to a control group. METH ODS: The sample was constituted of 68 experimental subjects and 78 controls, treated with RT . Both groups were assessed with the Toronto Alexithymia Scale (TAS -20), the Hamilton Anxiety and Depression Scale (HA DS) and the EORTC -QLQ at the beginning and at the end of their RT . Experimental subjects were instructed to report emotions and thoughts before attending the RT sessions in a thought diary. RES ULTS : The experimental group showed a good adherence to the diary, a reduction in mean scores of anxiety (P<0.001), depression (P<0.001), and alexithymia (P<0.001) together with an ameliorative effect on quality of life (P<0.014), compared to control group. CONCLUSI ONS: We observed a reduction in alexithymia scores in the experimental group, together with a significant reduction in anxiety and depression symptoms and an improvement in quality of life, with a moderator role of social disparity in treatment adherence. Our outcomes suggest the opportunity to consider the diary an affordable and effective device for psychologists operating in RT units, able to be extended to the majority of patients, in a simple and replicable setting
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