35 research outputs found

    Anti-gambling policies: Framing morality policy in Italy

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    Recent research on morality policy has focused on policy change, morality framing and the presence of favourable cultural opportunity structures (COSs). The resulting literature describing various aspects of morality policy has failed to discuss the impact of multilevel dynamic in this field. This contribution examines gambling policy in Italy, applying a multilevel approach to detect the presence of favourable COSs, and whether policymakers frame policies morally. Italy offers a particularly fertile field for the study of morality policy, featuring a liberal national approach versus local restrictive policy. By applying a methodology based on semistructured interviews and secondary sources, we examine the national and local political spheres, demonstrating that morality framing, when detected, is more likely to be found at the local level where the influence of experts and interest groups on legislators may result in the transformation of a health policy based on paternalistic considerations

    Dissection of Structure and Function of the N-Terminal Domain of Mouse DNMT1 Using Regional Frame-Shift Mutagenesis

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    Deletion analysis of mouse DNMT1, the primary maintenance methyltransferase in mammals, showed that most of the N-terminal regulatory domain (amino acid residues 412–1112) is required for its enzymatic activity. Although analysis of deletion mutants helps to identify regions of a protein sequence required for a particular activity, amino acid deletions can have drastic effects on protein structure and/or stability. Alternative approaches represented by rational design and directed evolution are resource demanding, and require high-throughput selection or screening systems. We developed Regional Frame-shift Mutagenesis (RFM) as a new approach to identify portions required for the methyltransferase activity of DNMT1 within the N-terminal 89–905 amino acids. In this method, a short stretch of amino acids in the wild-type protein is converted to a different amino acid sequence. The resultant mutant protein retains the same amino acid length as the wild type, thereby reducing physical constrains on normal folding of the mutant protein. Using RFM, we identified three small regions in the amino-terminal one-third of the protein that are essential for DNMT1 function. Two of these regions (amino acids 124–160 and 341–368) border a large disordered region that regulates maintenance methylation activity. This organization of DNMT1's amino terminus suggests that the borders define the position of the disordered region within the DNMT1 protein, which in turn allows for its proper function

    VHL Frameshift Mutation as Target of Nonsense-Mediated mRNA Decay in Drosophila melanogaster and Human HEK293 Cell Line

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    There are many well-studied examples of human phenotypes resulting from nonsense or frameshift mutations that are modulated by Nonsense-Mediated mRNA Decay (NMD), a process that typically degrades transcripts containing premature termination codons (PTCs) in order to prevent translation of unnecessary or aberrant transcripts. Different types of germline mutations in the VHL gene cause the von Hippel-Lindau disease, a dominantly inherited familial cancer syndrome with a marked phenotypic variability and age-dependent penetrance. By generating the Drosophila UAS:Upf1D45B line we showed the possible involvement of NMD mechanism in the modulation of the c.172delG frameshift mutation located in the exon 1 of Vhl gene. Further, by Quantitative Real-time PCR (QPCR) we demonstrated that the corresponding c.163delG human mutation is targeted by NMD in human HEK 293 cells. The UAS:Upf1D45B line represents a useful system to identify novel substrates of NMD pathway in Drosophila melanogaster. Finally, we suggest the possible role of NMD on the regulation of VHL mutations

    Association between autism spectrum disorder and diabetes: systematic review and meta-analysis

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    There is mixed evidence on the link between autism spectrum disorder (ASD) and diabetes. We conducted the first systematic review/meta-analysis on their association. Based on a pre-registered protocol (PROSPERO: CRD42021261114), we searched Pubmed, Ovid, and Web of Science databases up to 6 December 2021, with no language/type of document restrictions. We assessed study quality using the Newcastle-Ottawa Scale (NOS). We included 24 studies (total: 3427,773 individuals; 237,529 with ASD and 92,832 with diabetes) in the systematic review and 20 in the meta-analysis (mean stars number on the NOS: 5.89/10). There was a significant association, albeit characterized by significant heterogeneity, when pooling unadjusted OR (1.535, 95% CI = 1.109-2.126), which remained significant when restricting the analysis to children and type 2 diabetes, but became non-significant when considering adjusted ORs (OR: 1.528, 95% CI = 0.954-2.448). No significant prospective association was found (n = 2) on diabetes predicting ASD (HR: 1.232, 0.826-11.837). Therefore, the association between ASD and diabetes is likely confounded by demographic and clinical factors that should be systematically investigated in future studies

    Quale rilevanza dei modelli regolativi regionali? La questione lombarda nella crisi sanitaria Covid-19

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    The article investigates the impact of the Covid-19 crisis in the Lombardy region. This region has been strongly hit by the health crisis: more than 30% of the Covid-19 deaths in Italy occurred here. Against this background, the aim is understanding the reason why the impact of the pandemic has been so problematic in this regional case. In particular, the role played by the regulatory model characterizing the Lombardy’s health care system will be considered. The central hypothesis is that the traditional weakness affecting territorial health care services in Lombardy as well as the lack of coordination of such services with the hospital system have played a crucial role (path-dependence) in undermine the contrast to the Covid-19 crisis in this region

    La Regione Lombardia nella crisi sanitaria da Covid-19: ospedali, territorio e RSA,

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    Sia nel corso della prima ondata di Covid-19, tra il marzo e il maggio 2020, sia in quella successiva (in corso) la Lombardia è stata al centro dell’attenzione dell’opinione pubblica nazionale e non solo, in quanto area più colpita del paese. Questa attenzione è comprensibile per diverse ragioni, tra cui la reputazione e la particolare specificità del «modello» sanitario lombardo. La Lombardia, la regione italiana più ricca e popolosa, veniva ritenuta inizialmente quella addirittura meglio predisposta ad affrontare l’urto della crisi pandemica, stante «l’eccellenza» del proprio il sistema ospedaliero. Quello che realmente è successo induce a riflettere sulle evidenti difficoltà del Servizio Sanitario Regionale, sulle sue cause, e sulle possibili e necessarie linee di intervento da mettere in atto, su un piano strettamente regionale, ma anche più generale

    Anti-gambling policies: framing morality policy in Italy.

    No full text
    Recent research on morality policy has focused on policy change, morality framing and the presence of favourable cultural opportunity structures (COSs). The resulting literature describing various aspects of morality policy has failed to discuss the impact of multilevel dynamic in this field. This contribution examines gambling policy in Italy, applying a multilevel approach to detect the presence of favourable COSs, and whether policymakers frame policies morally. Italy offers a particularly fertile field for the study of morality policy, featuring a liberal national approach versus local restrictive policy. By applying a methodology based on semistructured interviews and secondary sources, we examine the national and local political spheres, demonstrating that morality framing, when detected, is more likely to be found at the local level where the influence of experts and interest groups on legislators may result in the transformation of a health policy based on paternalistic considerations

    Anti-gambling policies: framing morality policy in Italy.

    No full text
    Recent research on morality policy has focused on policy change, morality framing and the presence of favourable cultural opportunity structures (COSs). The resulting literature describing various aspects of morality policy has failed to discuss the impact of multilevel dynamic in this field. This contribution examines gambling policy in Italy, applying a multilevel approach to detect the presence of favourable COSs, and whether policymakers frame policies morally. Italy offers a particularly fertile field for the study of morality policy, featuring a liberal national approach versus local restrictive policy. By applying a methodology based on semistructured interviews and secondary sources, we examine the national and local political spheres, demonstrating that morality framing, when detected, is more likely to be found at the local level where the influence of experts and interest groups on legislators may result in the transformation of a health policy based on paternalistic considerations

    La Regione Lombardia nella crisi sanitaria da Covid-19: ospedali, territorio e RSA,

    No full text
    Sia nel corso della prima ondata di Covid-19, tra il marzo e il maggio 2020, sia in quella successiva (in corso) la Lombardia \ue8 stata al centro dell\u2019attenzione dell\u2019opinione pubblica nazionale e non solo, in quanto area pi\uf9 colpita del paese. Questa attenzione \ue8 comprensibile per diverse ragioni, tra cui la reputazione e la particolare specificit\ue0 del \uabmodello\ubb sanitario lombardo. La Lombardia, la regione italiana pi\uf9 ricca e popolosa, veniva ritenuta inizialmente quella addirittura meglio predisposta ad affrontare l\u2019urto della crisi pandemica, stante \uabl\u2019eccellenza\ubb del proprio il sistema ospedaliero. Quello che realmente \ue8 successo induce a riflettere sulle evidenti difficolt\ue0 del Servizio Sanitario Regionale, sulle sue cause, e sulle possibili e necessarie linee di intervento da mettere in atto, su un piano strettamente regionale, ma anche pi\uf9 generale
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