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The paper illustrates the strategies set up for the communication of the documentary heritage of the Museum of Representation (Mu.Ra.), Department of Civil Engineering and Architecture, University of Catania. Mu.Ra. houses and exhibits the collections of architectural projects (Francesco Fichera Archive) and chalcographies (including the collection of G.B. Piranesi). The mission of the museum is to preserve, protect and make available to the scientific as well as to a wider community, the results of the Department research, education and dissemination activities.This has inspired a new way of thinking, valuing and using the heritage possessed. Focusing on the enhancement of the collections and merging research and educational purposes, an innovative participatory approach has been investigated and experimented.Indeed the students of the drawing courses and interns at the museum have been involved in their dual role of future designers and potential visitors of the museum developing strategies for new target users. Specifically, the experimentation was carried out on the projects by Francesco Fichera and was focused on the development of a communication strategy addressed to the reading and understanding of the architectural project. The aim was to actively involve the visitor in the learning process, making the visit a cognitive and emotional experience through new forms of representation. To achieve this goal the students worked both on architectures existing in Catania and on the unrealized projects, with the aim of recreating, using 3D modeling, virtual environments and reality, the visual and perceptive sensations of the unfinished architectural space.DOI: https://doi.org/10.20365/disegnarecon.23.2019.8

Several studies have shown that guanine-based purines exert biological effects on the central nervous system (CNS), possibly through membrane receptors, but at the present there are not reports related to the identification of such specific receptor(s). We have identified the first guanosine G protein-coupled receptor GPR23, also known as LPA4 receptor, involved in the modulation of guanosine-mediated antiproliferative effects in human glioma cell line (U87). We report that the silencing of GPR23 reduces significantly the antiproliferative effects of guanosine, while stably transfected cell clones over-expressing GPR23 increase sensitivity to guanosine. [3H] Guanosine radioligand binding assay reveals that [3H]-Guanosine binding to membrane fractions is greatly enhanced by GPR23 overexpression, and inhibited by GPR23 silencing. Furthermore, in [35S] GTPγS binding assay experiments, Guanosine causes a functional G protein coupled receptor activation in U87GPR23 overexp! ressing cells with an EC50= 8,067 nM. The binding site for [3H]-guanosine is highly specific and both lysophosphatidic acid (LPA) and guanine agonists are 10 times less effective than guanosine in displacing 50 nM [3H]-guanosine binding. In order to correlate the effects of guanosine in the CNS to a putative activation of GPR23, we performed, in different brain areas, the following investigations: by PCR, the expression levels of GPR23; by [3H]-Guanosine radioligand binding assay, the binding properties of Guanosine; by [35S] GTPγS binding assay, the receptor activation properties in response to Guanosine. Among the examined brain areas, the cerebral cortex shows the highest GPR23 expression levels which correlate with the highest Bmax values for [3H]-Guanosine as compared to other brain regions, with the following rank order: cerebral cortex>hippocampus>striatum>spinal cord. [35S] GTPγS binding assay experiments confirm an activation of a G protein-cou! pled receptor in response to guanosine in the cerebral cortex (EC50 10 0 nM). Although these observations do not exclude a possible involvement of other unidentified receptors, they can suggest an involvement of GPR23 in the functional response of cerebral cortex to Guanosine. Overall, together these data suggest that GPR23 may act as a functional membrane receptor for Guanosine.

Several studies have shown that guanine-based purines exert biological effects on the central nervous system, possibly through membrane receptor. In a parallel work, we have identified the first guanosine G protein-coupled receptor GPR23, known as LPA4 receptor, involved in the modulation of guanosine-mediated antiproliferative effects in human glioma cell lines. Here, we performed in different brain areas the following studies: by PCR, the expression levels of GPR23; by [3H]-Guanosine radioligand binding assay, the binding properties of GPR23; by [35S] GTPγS binding assay, the receptor activation properties of guanosine. Among the examined areas, the cerebral cortex showed the highest GPR23 expression levels and affinity binding site for [3H]-Guanosine (KD 143.8 nM and Bmax 3713 nM) as compared to other brain regions with the following rank order: cerebral cortex>hippocampus>striatum>spinal cord. T! he activation of a G protein-coupled receptor in response to guanosine showed in the cerebral cortex an EC50 92 nM. The binding site for [3H]-guanosine was highly specific and both lysophosphatidic acid and guanine agonists were 10 times less effective than guanosine in displacing 50 nM [3H]-guanosine binding. Overall these data demonstrate the existence of different levels of GPR23 mRNAs and of guanosine binding in the brain areas examined. Nevertheless at this stage of study the guanosine binding observed could include, in addition to GPR23, other unidentified receptors.

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Made available in DSpace on 2022-04-29T08:44:24Z (GMT). No. of bitstreams: 0 Previous issue date: 2011-01-01 Objective: To compare the demographic features, presenting manifestations, diagnostic investigations, disease course, and drug therapies of children with juvenile dermatomyositis (JDM) followed in Europe and Latin America. Methods: Patients were inception cohorts seen between 1980 and 2004 in 27 paediatric rheumatology centres. The following information was collected through the review of patient charts: sex; age at disease onset; date of disease onset and diagnosis; onset type; presenting clinical features; diagnostic investigations; course type; and medications received during disease course. Results: Four hundred and ninety patients (65.5% females, mean onset age 7.0 years, mean disease duration 7.7 years) were included. Disease presentation was acute or insidious in 57.1% and 42.9% of the patients, respectively. The course type was monophasic in 41.3% of patients and chronic polycyclic or continuous in 58.6% of patients. The more common presenting manifestations were muscle weakness (84.9%), Gottron's papules (72.9%), heliotrope rash (62%), and malar rash (56.7%). Overall, the demographic and clinical features of the 2 continental cohorts were comparable. European patients received more frequently high-dose intravenous methylprednisolone, cyclosporine, cyclophosphamide, and azathioprine, while methotrexate and antimalarials medications were used more commonly by Latin American physicians. Conclusion: The demographic and clinical characteristics of JDM are similar in European and Latin American patients. We found, however, several differences in the use of medications between European and Latin American paediatric rheumatologists. © Clinical and Experimental Rheumatology 2011. Istituto di Ricovero e Cura a Carattere Scientifico G Gaslini, Genova Great Ormond Street Hospital for Children, London UCL Institute of Child Health, London Universidade Federal do Rio de Janeiro, Rio de Janeiro Universidade do Estado do Rio de Janeiro, Rio de Janeiro Hospital General de Ninos Pedro de Elizalde Buenos Aires Hospital de Pediatria Juan P. Garrahan, Buenos Aires Hospital das Clinicas Faculdade de Medicina de Ribeirao Preto Universidade de Sao Paulo, Ribeirao Preto Hospital General de Mexico, Mexico City Centro Medical National La Raza, Mexico City Hospital Pequeno Principe, Curitiba Parana Centro Medico Nacional Siglo XXI, Mexico City Faculdade de Medicina de Botucatu Universitade Estadual Paulista, Botucatu Instituto da Criança and Division of Rheumatology Faculdade de Medicina Universidade de São Paulo, São Paulo Presidio Ospedaliera Ospedali Civili Riuniti, Sciacca Ospedale Policlinico Università degli Studi di Chieti, Chieti Ospedale A. Meyer, Firenze Azienda Ospedaliera Universitaria, Messina Università di Torino, Torino Spedali Civili, Brescia Università Cattolica Sacro Cuore, Rome Università degli Studi di Genova, Genova Faculdade de Medicina de Botucatu Universitade Estadual Paulista, Botucatu

We describe a 19-year-old woman with haemolytic anaemia and thrombocytopenia as the initial manifestation of Wilson disease (WD). There are two reasons for reporting such an improbable case. First, it emphasizes the importance of recognizing atypical clinical presentations of potentially lethal recessive traits for which therapy is available. Second, it shows that, even in a monogenic disorder like WD, the phenotype cannot be extrapolated from the mutated genotype in a simple fashion; this patient had a relatively late-onset form of WD despite homozygosity for a genetic lesion leading to an apparent complete loss of function of the WD copper transporter.