115 research outputs found

    YOUNG ITALIANS' MEDIA USE AND ATTITUDE TOWARDS IMMIGRATION

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    This paper describes a study aimed at analyzing whether and how certain technologies usage practices can lead to the construction of different perceptions in relation to social phenomena. In particular, the study enquires how the evolution in the way young people get informed, can lead to different attitudes towards a phenomenon such as immigration. The work aims to understand what kind of relationship exists between different media usage types and (over)exposure to the news – made possible by the web, particularly social media – and the perception (in cognitive and evaluative terms) of the presence of immigrants in Italy. To answer these questions, an empirical research was conducted using a qualitative and quantitative approach. In particular, the quantitative study was carried through a survey on a sample of 200 subjects and illustrates how the information system, new information technologies and media consumption strongly influence the way young Italian see the world, confirming a bias between their perception and what statistical data say about the environment in which they are living

    A novel oncogenic BTK isoform is overexpressed in colon cancers and required for RAS-mediated transformation

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    20siBruton's tyrosine kinase (BTK) is essential for B-cell proliferation/differentiation and it is generally believed that its expression and function are limited to bone marrow-derived cells. Here, we report the identification and characterization of p65BTK, a novel isoform abundantly expressed in colon carcinoma cell lines and tumour tissue samples. p65BTK protein is expressed, through heterogeneous nuclear ribonucleoprotein K (hnRNPK)-dependent and internal ribosome entry site-driven translation, from a transcript containing an alternative first exon in the 5'-untranslated region, and is post-transcriptionally regulated, via hnRNPK, by the mitogen-activated protein kinase (MAPK) pathway. p65BTK is endowed with strong transforming activity that depends on active signal-regulated protein kinases-1/2 (ERK1/2) and its inhibition abolishes RAS transforming activity. Accordingly, p65BTK overexpression in colon cancer tissues correlates with ERK1/2 activation. Moreover, p65BTK inhibition affects growth and survival of colon cancer cells. Our data reveal that BTK, via p65BTK expression, is a novel and powerful oncogene acting downstream of the RAS/MAPK pathway and suggest that its targeting may be a promising therapeutic approach.openopenGrassilli, Emanuela; Pisano, Fabio; Cialdella, Annamaria; Bonomo, Sara; Missaglia, Carola; Cerrito, Maria Grazia; Masiero, Laura; Ianzano, Leonarda; Giordano, Federica; Cicirelli, Vittoria; Narloch, Robert; D'Amato, Filomena; Noli, Barbara; Ferri, Gian Luca; Leone, Biagio; Stanta, Giorgio; Bonin, Serena; Helin, Kristian; Giovannoni, Roberto; Lavitrano, MarialuisaGrassilli, Emanuela; Pisano, Fabio; Cialdella, Annamaria; Bonomo, Sara; Missaglia, Carola; Cerrito, Maria Grazia; Masiero, Laura; Ianzano, Leonarda; Giordano, Federica; Cicirelli, Vittoria; Narloch, Robert; D'Amato, Filomena; Noli, Barbara; Ferri, Gian Luca; Leone, Biagio; Stanta, Giorgio; Bonin, Serena; Helin, Kristian; Giovannoni, Roberto; Lavitrano, Marialuis

    A novel PNPLA2 mutation causing total loss of RNA and protein expression in two NLSDM siblings with early onset but slowly progressive severe myopathy

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    Neutral lipid storage disease with myopathy (NLSDM) is a rare autosomal recessive disorder, due to an enzymatic error of lipid metabolism. Patients present always with skeletal muscle myopathy and variable cardiac and hepatic involvement. NLSDM is caused by mutations in the PNPLA2 gene, which encodes the adipose triglyceride lipase (ATGL). Here we report the molecular characterization and clinical findings of two NLSDM siblings carrying the novel c.187+1G > C homozygous PNPLA2 mutation, localized in the splice site of intron 2. Molecular analyses revealed that neither aberrant PNPLA2 mRNA isoforms, nor ATGL mutated protein were detectable in patient's cells. Clinically, both patients presented early onset muscle weakness, in particular of proximal upper limb muscles. In almost 15 years, muscle damage affected also distal upper limbs. This is a NLSDM family, displaying a severe PNPLA2 mutation in two siblings with clinical presentation characterized by an early onset, but a slowly evolution of severe myopathy

    MiRNAs as biomarkers of phenotype in neutral lipid storage disease with myopathy

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    BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare lipid metabolism disorder. In this study, we evaluated some circulating miRNAs levels in serum samples and the MRI of three affected siblings. METHODS: Three members of one NLSDM family were identified: two brothers and one sister. Muscles of lower and right upper extremities were studied by MRI. Expression profile of miRNAs, obtained from serum samples, was detected using qRT-PCR. RESULTS: Two brothers presented with progressive skeletal myopathy, while the sister had severe hepatosteatosis and diabetes. NLSDM patients showed a significant increase of muscle-specific miRNAs expression compared with healthy subjects. We found a correlation between hepatic damage and elevation of miRNAs expression profile of liver origin. CONCLUSIONS: The dysregulation of miRNAs might represent an indicator of skeletal and hepatic damage and it might be useful to monitor the progression of NLSDM

    Generation of induced Pluripotent Stem Cells as disease modelling of NLSDM

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    Neutral Lipid Storage Disease with Myopathy (NLSDM) is a rare defect of triacylglycerol metabolism, characterized by the abnormal storage of neutral lipid in organelles known as lipid droplets (LDs). The main clinical features are progressive myopathy and cardiomyopathy. The onset of NLSDM is caused by autosomal recessive mutations in the PNPLA2 gene, which encodes adipose triglyceride lipase (ATGL). Despite its name, this enzyme is present in a wide variety of cell types and catalyzes the first step in triacylglycerol lipolysis and the release of fatty acids. Here, we report the derivation of NLSDM-induced pluripotent stem cells (NLSDM-iPSCs) from fibroblasts of two patients carrying different PNPLA2 mutations. The first patient was homozygous for the c.541delAC, while the second was homozygous for the c.662G>C mutation in the PNPLA2 gene. We verified that the two types of NLSDM-iPSCs possessed properties of embryonic-like stem cells and could differentiate into the three germ layers in vitro. Immunofluorescence analysis revealed that iPSCs had an abnormal accumulation of triglycerides in LDs, the hallmark of NLSDM. Furthermore, NLSDM-iPSCs were deficient in long chain fatty acid lipolysis, when subjected to a pulse chase experiment with oleic acid. Collectively, these results demonstrate that NLSDM-iPSCs are a promising in vitro model to investigate disease mechanisms and screen drug compounds for NLSDM, a rare disease with few therapeutic options

    Hidden Treasures in the Unknown 3CR Extragalactic Radio Sky: A Multiwavelength Approach

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    We present the analysis of multiwavelength observations of seven extragalactic radio sources, listed as unidentified in the Third Cambridge Revised Catalog (3CR). X-ray observations, performed during Chandra Cycle 21, were compared to Very Large Array (VLA), Wide-field Infrared Survey Explorer, and Pan-STARRS observations in the radio, infrared, and optical bands, respectively. All sources in this sample lack a clear optical counterpart, and are thus missing their redshift and optical classification. In order to confirm the X-ray and infrared radio counterparts of core and extended components, here we present for the first time radio maps obtained manually reducing VLA archival data. As in previous papers on the Chandra X-ray snapshot campaign, we report X-ray detections of radio cores and two sources, out of the seven presented here, are found to be members of galaxy clusters. For these two cluster sources (namely, 3CR 409 and 3CR 454.2), we derived surface brightness profiles in four directions. For all seven sources, we measured X-ray intensities of the radio sources and we also performed standard X-ray spectral analysis for the four sources (namely, 3CR 91, 3CR 390, 3CR 409, and 3CR 428) with the brightest nuclei (more than 400 photons in the 2\u27\u27 nuclear region). We also detected extended X-ray emission around 3CR 390 and extended X-ray emission associated with the northern jet of 3CR 158. This paper represents the first attempt to give a multiwavelength view of the unidentified radio sources listed in the 3CR catalog

    Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome

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    ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism

    Peering into the extended X-ray emission on megaparsec scale in 3C 187

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    Context. The diffuse X-ray emission surrounding radio galaxies is generally interpreted either as due to inverse Compton scattering of nonthermal radio-emitting electrons on the cosmic microwave background (IC/CMB), or as due to thermal emission arising from the hot gas of the intergalactic medium (IGM) permeating galaxy clusters hosting such galaxies, or as a combination of both. In this work, we present an imaging and spectral analysis of Chandra observations for the radio galaxy 3C 187 to investigate its diffuse X-ray emission and constrain the contribution of these various physical mechanisms. Aims. The main goals of this work are the following: (i) to evaluate the extension of the diffuse X-ray emission from this source; (ii) to investigate the two main processes, IC/CMB and thermal emission from the IGM, which can account for the origin of this emission; and (iii) to test the possibility that 3C 187 belongs to a cluster of galaxies, which can account for the observed diffuse X-ray emission. Methods. To evaluate the extension of the X-ray emission around 3C 187, we extracted surface flux profiles along and across the radio axis. We also extracted X-ray spectra in the region of the radio lobes and in the cross-cone region to estimate the contribution of the nonthermal (IC/CMB) and thermal (IGM) processes to the observed emission, making use of radio (VLA and GMRT) data to investigate the multiwavelength emission arising from the lobes. We collected Pan-STARRS photometric data to investigate the presence of a galaxy cluster hosting 3C 187, looking for the presence of a “red sequence” in the source field in the form of a tight clustering of galaxies in the color space. In addition, we made use of observations performed with the COSMOS spectrograph at the Victor Blanco Telescope to estimate the redshift of the sources in the field of 3C 187 to verify if they are gravitationally bound, as we would expect in a cluster of galaxies. Results. The diffuse X-ray emission around 3C 187 is found to extend in the soft 0.3 − 3 keV band up to ∼850 kpc along the radio lobe direction and ∼530 kpc in the cross-cone direction, and it appears enhanced in correspondence with the radio lobes. Spectral X-ray analysis in the cross-cones indicates a thermal origin for the emission in this region with a temperature ∼4 keV. In the radio lobes, the X-ray spectral analysis in combination with the radio data suggests a dominant IC/CMB radiation in these regions, however we do not rule out a significant thermal contribution. Assuming that the radiation observed in the radio lobes is due to the IGM, the emission from the N and S cones can be interpreted as arising from hot gas with temperatures of ∼3 keV and ∼5 keV, respectively, and found to be in pressure equilibrium with the surrounding gas. Using Pan-STARRS optical data we found that 3C 187 belongs to a red sequence of ∼40 optical sources in the field whose color distribution is significantly different from background sources. We were able to collect optical spectra for only one of these cluster candidates and for 22 field (i.e., noncluster candidates) sources. While the latter show stellar spectra, the former feature a galactic spectrum with a redshift close to 3C 187 nucleus. Conclusions. The diffuse X-ray emission around 3C 187 is elongated along the radio axis and enhanced in correspondence with the radio lobes. This indicates a morphological connection between the emission in the two energy bands and thus suggests a dominating IC/CMB mechanism in these regions. This scenario is reinforced by multiwavelength radio X-ray emission, which in these regions is compatible with IC/CMB radiation. The X-ray spectral analysis however does not rule out a significant contribution to the observed emission from thermal gas, which would be able to emit over tens of gigayears and in pressure equilibrium with the surroundings. Optical data indicate that 3C 187 may belong to a cluster of galaxies, whose IGM would contribute to the X-ray emission observed around the source. Additional X-ray and optical spectroscopic observations are however needed to secure these results and get a more clear picture of the physical processes at play in 3C 187
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