Iniciatives de difusió de qualitat a Internet dels museus i les col·leccions museogràfiques de Catalunya

Objectius: analitzar la presència del patrimoni cultural català a Internet a través de la selecció d'experiències i iniciatives de qualitat. Es presenten els projectes del MNAC a l'Art Project de Google, el Padicat, Museus en línia, la Xarxa de Museus Locals, la Carta arqueològica de Barcelona, el CCCBLab, el portal dels Museus de Girona i el Viquiprojecte:ICUB. Metodologia: s'han dut a terme diverses proves de consulta, cerca i visualització dels continguts dipositats i accessibles a Internet per determinar-ne l'eficiència, l'eficàcia i el funcionament correcte. Resultats: es constata que hi ha una gran varietat en les solucions utilitzades pels museus per tenir presència a Internet i que varia en l'abast, el punt en què es posa el focus (la institució o la peça) i la complexitat tecnològic

Estudio comparativo de evaluación del riesgo de incendio en la industria química

Màster de Direcció d'Entitats Asseguradores i Financeres, Universitat de Barcelona, Facultat d'Economia i Empresa, Curs: 2003-2004, Tutor: Bartomeu Baqué VidalLa presente tesina va encaminada al estudio de la evaluación del riesgo de incendios en la Industria Química y ello se consigue a través del análisis de los distintos niveles de protección y prevención contra incendios que es necesario que las Industrias Químicas tengan para reducir el riesgo de incendios. El objetivo final es el de mostrar por qué para cada tipo de familia dentro de las “Químicas” se necesita un mayor o menor grado de protección y prevención. El mayor o menor riesgo de incendios, ya sea en la Industria Química como en cualquier empresa del Sector Industrial, lo determina la actividad que se realiza en cada una de ellas. Lo que se persigue con el análisis de los niveles de prevención y protección es tener lo más controlado posible el riesgo de incendios, intentando que se llegue a alcanzar un nivel de riesgo “aceptable

La responsabilidad de proteger

La controversia que emerge en torno a la R2P se inscribe en un cleavage presente a lo largo del tiempo (desde Hugo Grocio, a Bernard Kouchner pasando por Jean Henri Dunnant): Estados pluralistas (art. 2.7 de la Carta de NN.UU) y Estados solidaristas (art. 1.3 de la Carta de NN.UU). En el año 2001 emerge la R2P bajo liderazgo de Gareth Evans y de Mohamed Sahnoun en la comisión canadiense ICISS. Dicha norma busca conjugar los valores de pluralistas (intereses) y solidaristas (valores), y será aprobada durante de la Cumbre Mundial de NN.UU en 2005 sufriendo cambios dentro del debate pluralismo-solidarismo. Tras analizar el proceso de emergencia hacia la aceptación definitiva, también se aborda el debate normativo que ha surgido alrededor de la R2P. En él encontramos dos grande debates. El primero es el ideacional dónde encontramos la división entre Estados solidaristas y pluralistas, el segundo es el instrumental (ciclo de Finnermore y RWP). Finalmente, se analizan tres casos prácticos para poder determinar si dicha norma se encuentra internalizada en las estructuras burocráticas y sociales o no. La pauta que se lleva a cabo para su análisis se divide en tres puntos. El primero sobre causa justa se relaciona con el hecho de que se de alguno de los 4 crímenes de la R2P ; el segundo con la existencia o no de un mandato del Consejo de Seguridad de NNUU; y el tercero con la eficacia de la acción, es decir el respeto o no del mandato. Los casos analizados son los de Darfur (Sudán), Libia y Malí. No obstante, en ninguno de los tres casos se cumplen los 3 puntos necesarios para poder hablar de un uso correcto de la R2P. Por lo tanto la R2P no solamente ha sufrido desde su emergencia y aceptación una deriva hacia el pluralismo, sino que también su aplicación (internalización) incorrecta ha servido para enaltecer l os principios de la gestión de conflictos estatocéntrica basada en el respeto de la soberanía entre otros

Brain tyrosinase overexpression implicates age-dependent neuromelanin production in Parkinson's disease pathogenesis

Brain tyrosinase; Neuromelanin production; Parkinson’sTirosinasa cerebral; Producció de neuromelanina; ParkinsonTirosinasa cerebral; Producción de neuromelanina; ParkinsonIn Parkinson's disease (PD) there is a selective degeneration of neuromelanin-containing neurons, especially substantia nigra dopaminergic neurons. In humans, neuromelanin accumulates with age, the latter being the main risk factor for PD. The contribution of neuromelanin to PD pathogenesis remains unknown because, unlike humans, common laboratory animals lack neuromelanin. Synthesis of peripheral melanins is mediated by tyrosinase, an enzyme also present at low levels in the brain. Here we report that overexpression of human tyrosinase in rat substantia nigra results in age-dependent production of human-like neuromelanin within nigral dopaminergic neurons, up to levels reached in elderly humans. In these animals, intracellular neuromelanin accumulation above a specific threshold is associated to an age-dependent PD phenotype, including hypokinesia, Lewy body-like formation and nigrostriatal neurodegeneration. Enhancing lysosomal proteostasis reduces intracellular neuromelanin and prevents neurodegeneration in tyrosinase-overexpressing animals. Our results suggest that intracellular neuromelanin levels may set the threshold for the initiation of PD

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias : Experience of the Spanish Network on Bone Marrow Failure Syndromes

Inherited bone marrow failure syndromes (IBMFSs) are a group of congenital rare diseases characterized by bone marrow failure, congenital anomalies, high genetic heterogeneity, and predisposition to cancer. Appropriate treatment and cancer surveillance ideally depend on the identification of the mutated gene. A next-generation sequencing (NGS) panel of genes could be 1 initial genetic screening test to be carried out in a comprehensive study of IBMFSs, allowing molecular detection in affected patients. We designed 2 NGS panels of IBMFS genes: version 1 included 129 genes and version 2 involved 145 genes. The cohort included a total of 204 patients with suspected IBMFSs without molecular diagnosis. Capture-based targeted sequencing covered > 99% of the target regions of 145 genes, with more than 20 independent reads. No differences were seen between the 2 versions of the panel. The NGS tool allowed a total of 91 patients to be diagnosed, with an overall molecular diagnostic rate of 44%. Among the 167 patients with classified IBMFSs, 81 patients (48%) were diagnosed. Unclassified IBMFSs involved a total of 37 patients, of whom 9 patients (24%) were diagnosed. The preexisting diagnosis of 6 clinically classified patients (6%) was amended, implying a change of therapy for some of them. Our NGS IBMFS gene panel assay is a useful tool in the molecular diagnosis of IBMFSs and a reasonable option as the first tier genetic test in these disorders

Correction: Long-term outcome after allogeneic hematopoietic stem cell transplantation for Shwachman–Diamond syndrome: a retrospective analysis and a review of the literature by the Severe Aplastic Anemia Working Party of the European Society for Blood and Marrow Transplantation (SAAWP-EBMT)

An amendment to this paper has been published and can be accessed via a link at the top of the paper

From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia

Purpose: in about 10% of patients affected by Fanconi anemia (FA) the diagnosis is delayed until adulthood, and the presenting symptom in these "occult" FA cases is often a solid cancer and cancer treatment-related toxicity. Highly predictive clinical parameter(s) for diagnosing such an adult-onset cases are missing. - Methods: (1) Exome sequencing (ES), (2) Sanger sequencing of FANCA, (3) diepoxybutane (DEB)-induced chromosome breakage test. - Results: ES identified a pathogenic homozygous FANCA variant in a patient affected by Sertoli cell-only syndrome (SCOS) and in his azoospermic brother. Although they had no overt anemia, chromosomal breakage test revealed a reverse somatic mosaicism in the former and a typical FA picture in the latter. In 27 selected SCOS cases, 1 additional patient showing compound heterozygous pathogenic FANCA variants was identified with positive chromosomal breakage test. - Conclusion: we report an extraordinarily high frequency of FA in a specific subgroup of azoospermic patients (7.1%). The screening for FANCA pathogenic variants in such patients has the potential to identify undiagnosed FA before the appearance of other severe clinical manifestations of the disease. The definition of this high-risk group for "occult" FA, based on specific testis phenotype with mild/borderline hematological alterations, is of unforeseen clinical relevance

Transient Facial Nerve Paralysis (Bell's Palsy) following Intranasal Delivery of a Genetically Detoxified Mutant of Escherichia coli Heat Labile Toxin

BACKGROUND: An association was previously established between facial nerve paralysis (Bell's palsy) and intranasal administration of an inactivated influenza virosome vaccine containing an enzymatically active Escherichia coli Heat Labile Toxin (LT) adjuvant. The individual component(s) responsible for paralysis were not identified, and the vaccine was withdrawn. METHODOLOGY/PRINCIPAL FINDINGS: Subjects participating in two contemporaneous non-randomized Phase 1 clinical trials of nasal subunit vaccines against Human Immunodeficiency Virus and tuberculosis, both of which employed an enzymatically inactive non-toxic mutant LT adjuvant (LTK63), underwent active follow-up for adverse events using diary-cards and clinical examination. Two healthy subjects experienced transient peripheral facial nerve palsies 44 and 60 days after passive nasal instillation of LTK63, possibly a result of retrograde axonal transport after neuronal ganglioside binding or an inflammatory immune response, but without exaggerated immune responses to LTK63. CONCLUSIONS/SIGNIFICANCE: While the unique anatomical predisposition of the facial nerve to compression suggests nasal delivery of neuronal-binding LT-derived adjuvants is inadvisable, their continued investigation as topical or mucosal adjuvants and antigens appears warranted on the basis of longstanding safety via oral, percutaneous, and other mucosal routes