21 research outputs found

    Gut Microbiota Features in Young Children with Autism Spectrum Disorders. [*Coretti L. corresponding author]

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    Proliferation and/or depletion of clusters of specific bacteria regulate intestinal functions and may interfere with neuro-immune communication and behavior in patients with autism spectrum disorder (ASD). Consistently, qualitative and quantitative alteration of bacterial metabolites may functionally affect ASD pathophysiology. Up to date, age-restricted cohort studies, that may potentially help to identify specific microbial signatures in ASD, are lacking. We investigated the gut microbiota (GM) structure and fecal short chain fatty acids (SCFAs) levels in a cohort of young children (2-4 years of age) with ASD, with respect to age-matched neurotypical healthy controls. Strong increase of Bacteroidetes and Proteobacteria and decrease of Actinobacteria was observed in these patients. Among the 91 OTUs whose relative abundance was altered in ASD patients, we observed a striking depletion of Bifidobacterium longum, one of the dominant bacteria in infant GM and, conversely, an increase of Faecalibacterium prausnitzii, a late colonizer of healthy human gut and a major butyrate producer. High levels of F. prausnitzii were associated to increase of fecal butyrate levels within normal range, and over representation of KEGG functions related to butyrate production in ASD patients. Here we report unbalance of GM structure with a shift in colonization by gut beneficial bacterial species in ASD patients as off early childhood

    Host fecal DNA specific methylation signatures mark gut dysbiosis and inflammation in children affected by autism spectrum disorder

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    : The gut-brain axis involves several bidirectional pathway communications including microbiome, bacterial metabolites, neurotransmitters as well as immune system and is perturbed both in brain and in gastrointestinal disorders. Consistently, microbiota-gut-brain axis has been found altered in autism spectrum disorder (ASD). We reasoned that such alterations occurring in ASD may impact both on methylation signatures of human host fecal DNA (HFD) and possibly on the types of human cells shed in the stools from intestinal tract giving origin to HFD. To test this hypothesis, we have performed whole genome methylation analysis of HFD from an age-restricted cohort of young children with ASD (N = 8) and healthy controls (N = 7). In the same cohort we have previously investigated the fecal microbiota composition and here we refined such analysis and searched for eventual associations with data derived from HFD methylome analysis. Our results showed that specific epigenetic signatures in human fecal DNA, especially at genes related to inflammation, associated with the disease. By applying methylation-based deconvolution algorithm, we found that the HFD derived mainly from immune cells and the relative abundance of those differed between patients and controls. Consistently, most of differentially methylated regions fitted with genes involved in inflammatory response. Interestingly, using Horvath epigenetic clock, we found that ASD affected children showed both epigenetic and microbiota age accelerated. We believe that the present unprecedented approach may be useful for the identification of the ASD associated HFD epigenetic signatures and may be potentially extended to other brain disorders and intestinal inflammatory diseases

    Investigating the generalizability of Economic Evaluations conducted in Italy: a critical review

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    bstract: Aim. To assess the methodological quality of Italian HEEs and their generalizability or transferability to different settings. Methods. A literature search was performed on Pubmed search engine to identify trial-based, non- experimental prospective studies or model-based full economic evaluations, carried out in Italy from 1995 to 2013. The studies were randomly assigned to four reviewers who applied a detailed checklist to assess the generalizability and the quality of reporting. The review process followed a three-step blinded procedure. The reviewers who carried out the data extraction were blind as to the name of the author(s) of each study. Second, after the first review, articles were re-assigned through a second blind randomization to a second reviewer. Finally, any disagreement between the first two reviews was solved by a senior researcher. Results. One-hundred fifty-one economic evaluations eventually met the inclusion criteria. Over time, we observed an increasing transparency of methods and a greater generalizability of results, along with a wider and more representative sample in trials and a larger adoption of transition-Markov models. On the other hand, often context-specific economic evaluations are carried out and not enough effort is done to assure the transferability of their results to other contexts. In recent studies, Cost- Effectiveness Analyses and the use of the Incremental Cost-Effectiveness Ratio were preferred. Conclusion. Despite a quite positive temporal trend, generalizability of results still appears as an unsolved question, even if some indication of improvement within Italian studies has been observe

    Investigating the Generalizability of Economic Evaluations Conducted in Italy: A Critical Review

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    Objectives To assess the methodological quality of Italian health economic evaluations and their generalizability or transferability to different settings. Methods A literature search was performed on the PubMed search engine to identify trial-based, nonexperimental prospective studies or model-based full economic evaluations carried out in Italy from 1995 to 2013. The studies were randomly assigned to four reviewers who applied a detailed checklist to assess the generalizability and quality of reporting. The review process followed a three-step blinded procedure. The reviewers who carried out the data extraction were blind as to the name of the author(s) of each study. Second, after the first review, articles were reassigned through a second blind randomization to a second reviewer. Finally, any disagreement between the first two reviewers was solved by a senior researcher. Results One hundred fifty-one economic evaluations eventually met the inclusion criteria. Over time, we observed an increasing transparency in methods and a greater generalizability of results, along with a wider and more representative sample in trials and a larger adoption of transition-Markov models. However, often context-specific economic evaluations are carried out and not enough effort is made to ensure the transferability of their results to other contexts. In recent studies, cost-effectiveness analyses and the use of incremental cost-effectiveness ratio were preferred. Conclusions Despite a quite positive temporal trend, generalizability of results still appears as an unsolved question, even if some indication of improvement within Italian studies has been observed

    The Impact of the COVID-19 Pandemic on Outdoor Physical Activities for People with Disabilities, including the Risks for Psychophysical Well-Being

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    The restrictions and social distancing measures due to the COVID-19 pandemic have created many obstacles in the practice of outdoor physical activity (OPA) throughout the world, particularly for the most vulnerable people, such as those with disabilities. The aim of this study was to explore the impact of pandemic-related limitations on the OPA of an Italian cohort of people with disabilities practicing sports. A retrospective observational study was conducted using an online survey. The questionnaire was distributed to 121 disabled athletes who practiced different outdoor physical activities. A total of 96 completed the survey, which collected demographic data, information about daily outdoor physical activity and sports habits, and about physical and psychological health before and during the pandemic. The frequency of daily OPA per week, along with the hours of physical activity, significantly decreased during the pandemic compared to those of the year before (p < 0.0001). A statistically significant deterioration was also found in the physical and mental well-being of disabled athletes during the pandemic (p < 0.0001) when compared to those from the year before the advent of COVID-19. This research demonstrated the negative impact of COVID-19 restrictions on OPA levels and on the physical and mental well-being of athletes with disabilities. It also highlighted a new challenge regarding the sustainability and integration of the national health system, demonstrating the necessity of improving the consistent accessibility of people with disabilities to OPA, both under normal conditions and emergency situations, in order to guarantee their psychophysical well-being

    Epidemiology of invasive fungal infections in the intensive care unit: results of a multicenter Italian survey (AURORA Project).

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    Abstract Purpose: The aims of this study are to evaluate the epidemiology of invasive fungal infections (IFIs) in patients admitted to an intensive care unit (ICU) in Southern Italy and the in vitro antifungal susceptibility of isolates. Methods: A surveillance program was implemented in 18 ICUs. IFI cases were recorded using a standardized form. Results: A total of 105 episodes of IFIs occurred in 5,561 patients during the 18-month study. The main infections were caused by yeasts, more than filamentous fungi (overall incidence of 16.5 cases per 1,000 admissions and 2.3 cases per 1,000 admissions, respectively). The overall crude mortality rate was high (42.8 %), particularly for mold infections (61.5 %). All yeast infections were Candida bloodstream infections. Over half (59.8 %) were caused by Candida non-albicans, with C. parapsilosis being the most common (61.8 %). In the multivariate model, trauma admission diagnosis, prolonged stay in the ICU, and parenteral nutrition were independently associated with candidemia due to C. parapsilosis [odds ratio (OR) 3.5, (1.8-5.2); OR 3.5, (1.02-3.5); OR 3.6, (1.28-6.99), respectively]. Among mold infections, 12 patients suffered from invasive pulmonary aspergillosis, with Aspergillus fumigatus as the predominant pathogen (41.7 %). One case of brain scedosporiosis was identified. Overall, azoles and echinocandins resistance was uncommon. Conclusions: Candida non-albicans species are the most frequent cause of candidemia in ICU patients. Mold infections are associated with a high mortality rate. This study confirms the importance of the epidemiological surveillance on IFIs in the ICU setting for documenting species distribution and antimicrobial susceptibility patterns to guide therapeutic choices. © 2013 The Author(s)

    A complete automatization of an educational observatory at INAF-OATs

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    The Astronomical Observatory of Trieste (OATs), part of the Italian Institute for Astrophysics (INAF), hosts a Celestron C14 telescope, equipped with a robotic Paramount ME equatorial mount, used for public outreach. The telescope is installed inside a dome, recently upgraded with a Beckhoff PLC control system, a SIEMENS inverter for the communication with the motor of the dome's roof, and further equipment to allow the complete automatization of the system. A peculiarity of the system is that, when operating, the telescope may exceed the height of the roof: due to this fact the telescope pointing is constrained by the full opening of the roof and, oppositely, the closing of the roof is allowed only when the telescope is in park position. Appropriate sensors are installed to monitor the position of the telescope to properly handle the complete opening or closing of the roof. Several emergency operations are also foreseen, for example in case of bad weather or lost connection with the user. The PLC software has been developed using TwinCAT software. An OPC-UA server is installed in the PLC and allows the communication with a web interface. The web GUI, developed in PHP and Javascript, allows the user to perform the remote operations like switching on all the instrumentations, open the dome's roof, park the telescope and view the status of the system. Furthermore through TheSkyX software it is possible to perform the pointing of the telescope and its set up. A dedicated script, interfaced with TheSkyX, have been implemented to perform a complete automated acquisition. An appropriate data storage system is foreseen. All these elements, that cooperate to create a fully remoted controlled system, are presented in this paper

    Evolving unilateral thalamic lesion in Phelan–McDermid syndrome: 7-year follow-up MRI and literature review

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    Abstract Purpose Phelan–McDermid syndrome is a rare genetic disorder caused by Shank3 protein deficiency, resulting from rearrangements of chromosome 22q13.3 in the region containing the SHANK3 gene. Shank proteins serve as pivotal scaffolding proteins in the postsynaptic density of excitatory synapses in the mammalian brain. Clinical features of Phelan–McDermid syndrome include global developmental delay, hypotonia, impaired language, dysmorphic features, sleep disturbances, and epileptic seizures. Brain magnetic resonance imaging (MRI) findings are typically limited and nonspecific. To our knowledge, no previous report has described an evolving unilateral thalamic focal lesion, its biopsy, and concomitant white matter changes as demonstrated by diffusion tensor imaging (DTI). Methods A 7-year clinical and MRI follow-up was conducted. At age 5, the patient exhibited emerging symptoms, including attention deficit and language impairment, prompting an array-comparative genomic hybridization analysis. MRI examinations included standard morphological sequences as well as advanced techniques such as DTI, spectroscopy, dynamic contrast enhancement, and dynamic susceptibility contrast perfusion imaging. A biopsy of the lesion was performed, and fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) of various brain structures were analyzed. Results Magnetic resonance spectroscopy revealed alterations in the ratios of choline/creatine, myo-inositol/creatine, and N-acetylaspartate/creatine in the evolving right thalamic lesion. Significant differences in DTI parameters were observed only in the right posterior thalamic radiation. Histopathological analysis of the biopsy did not demonstrate any malignant cellular elements. Conclusions In Phelan–McDermid syndrome, a unilateral, evolving focal thalamic lesion has not been previously described. Effective management of this condition necessitates comprehensive data collection to gain unique insights into this complex and rare syndrome
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