26 research outputs found

    Case report: Primary Ewing sarcoma of the ureter, an exceptional finding of unique manifestation of disease

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    Ewing sarcoma (ES) is the second most common malignant bone tumor in children and has also been described in adults with highly aggressive behavior. ES belongs to the small round blue cell tumor family and presents the distinctive translocation of FET-ETS family genes (85% with EWSR1), generating gene fusions. Extraskeletal ES mainly occurs in soft tissues; the urogenital tract is rarely affected, and ureteral localization is an exceptional event with only 4 cases described in the literature. Here we report the first Italian case of primary ES of the ureter, a 24-year-old young man with lower back pain and a narrowed left ureteral lumen on CT scan. ES of the urogenital tract is an almost unique condition with a nonspecific clinical presentation and a challenging diagnosis for pathologists. We encourage awareness of these exceptional events in the differential diagnosis of ureteral lesions in young patients

    PEDIATRIC TUBERCULOSIS IN THE NORTH SARDINIA

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    Safety and efficacy of direct-acting antivirals in transfusion-dependent thalassemic patients with chronic hepatitis C

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    Background: Hepatitis C virus (HCV) infection is a major cause of liver-related morbidity and mortality among thalassemic patients. New treatments based on direct-acting antivirals (DAAs) are highly effective and well-tolerated by patients; nonetheless, they have not been studied in thalassemic populations. In this study, we evaluated the safety and efficacy of these treatments in a cohort of Sardinian thalassemic patients with chronic HCV infection. Methods: We consecutively recruited thalassemic patients with HCV infection, who were eligible for DAA therapy at 3 liver units. Different drug combinations, depending on HCV genotype and hepatic disease severity, were used according to the current guidelines. Sustained virological response was assessed at 12 weeks posttreatment. Data regarding the side effects and transfusion requirements were also collected. Results: We recruited 49 patients, including 29 males (59.2%), with the mean age of 43 years (genotype 1, 55.1%). Twenty-one (42.9%) patients had a history of interferon-based treatment. Cirrhosis was detected in 28 (57.1%) patients; only 1 patient had ascites and hypoalbuminemia (Child-Pugh B7). On the other hand, 35 (71.4%) patients received a sofosbuvir-based regimen. Ribavirin treatment was reported in 26 (53.1%) cases. All the patients were followed-up for at least 12 weeks after therapy, and sustained virological response was observed in 98% of the patients. No treatment discontinuation was required due to adverse events. The most common side effects included fatigue (24.5%), headache (10.2%), and anaemia (77%), requiring further blood transfusion in patients receiving ribavirin. Conclusions: This prospective study showed that DAAs are safe and effective agents in thalassemic patients with advanced liver fibrosis, regardless of previous antiviral treatment responses

    Entrepreneurs, Firms and Global Wealth Since 1850

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    VizieR Online Data Catalog: Planck high-z source candidates catalog (PHZ) (Planck+, 2016)

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    We present in this work the Planck List of Highredshift Source Candidates (the "PHZ"), which includes 2151 sources distributed over 26% of the sky, with redshifts likely to be greater than 2. (2 data files)

    VizieR Online Data Catalog: Planck Catalogue of Galactic cold clumps (PGCC) (Planck+, 2016)

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    The Planck Catalogue of Galactic Cold Clumps (PGCC) is a list of 13188 Galactic sources and 54 sources located in the Small and Large Magellanic Clouds. The sources have been identified in Planck data as sources colder than their environment. It has been built using the 48 months Planck data at 857, 545, and 353GHz combined with the 3THz IRAS data. (1 data file)

    VizieR Online Data Catalog: Second Planck Catalogue of Compact Sources (PCCS2) (Planck+, 2016)

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    The Low Frequency Instrument (LFI) DPC produced the 30, 44, and 70GHz maps after the completion of eight full surveys (spanning the period 12 August 2009 to 3 August 2013). In addition, special LFI maps covering the period 1 April 2013 to 30 June 2013 were produced in order to compare the Planck flux-density scales with those of the Very Large Array and the Australia Telescope Compact Array, by performing simultaneous observations of a sample of sources over that period. The High Frequency Instrument (HFI) DPC produced the 100, 143, 217, 353, 545, and 857GHz maps after five full surveys (2009 August 12 to 2012 January 11). (16 data files)

    VizieR Online Data Catalog: Planck Sunyaev-Zeldovich sources (PSZ2) (Planck+, 2016)

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    Three pipelines are used to detect SZ clusters: two independent implementations of the Matched Multi-Filter (MMF1 and MMF3), and PowellSnakes (PwS). The main catalogue is constructed as the union of the catalogues from the three detection methods. The completeness and reliability of the catalogues have been assessed through internal and external validation as described in section 4 of the paper. (5 data files)

    Parkinson’s Disease-Related Genes and Lipid Alteration

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    Parkinson’s disease (PD) is a complex and progressive neurodegenerative disorder with a prevalence of approximately 0.5–1% among those aged 65–70 years. Although most of its clinical manifestations are due to a loss of dopaminergic neurons, the PD etiology is largely unknown. PD is caused by a combination of genetic and environmental factors, and the exact interplay between genes and the environment is still debated. Several biological processes have been implicated in PD, including mitochondrial or lysosomal dysfunctions, alteration in protein clearance, and neuroinflammation, but a common molecular mechanism connecting the different cellular alterations remains incompletely understood. Accumulating evidence underlines a significant role of lipids in the pathological pathways leading to PD. Beside the well-described lipid alteration in idiopathic PD, this review summarizes the several lipid alterations observed in experimental models expressing PD-related genes and suggests a possible scenario in relationship to the molecular mechanisms of neuronal toxicity. PD could be considered a lipid-induced proteinopathy, where alteration in lipid composition or metabolism could induce protein alteration—for instance, alpha-synuclein accumulation—and finally neuronal death
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