Participación ciudadana, patrimonio cultural y museos: entre la teoría y la praxis

Cap. 1. La Nueva Museología, el patrimonio cultural y la participación ciudadana a debate. Iñaki Arrieta Urtizberea Cap. 2. Museos: del público al ciudadano. Rafael Azuar Ruiz Cap. 3. Los públicos y lo público. De mutismos, sorderas, y de diálogos sociales en museos y espacios patrimoniales. Luz Maceira Ochoa Cap. 4. La restitution du patrimoine: un rôle pour le musée? Études de cas dans les communautés innues du Québec et du Labrador (Canada). Élise Dubuc Cap. 5. El museo de territorio y sociedad, ¿una utopía? el caso del Museo Industrial del Ter. Carles García Hermosilla Cap. 6. El ecomuseo del río Caicena (Almedinilla-Córdoba): un proyecto de desarrollo rural desde el patrimonio histórico-natural, ¿y la participación ciudadana? Ignacio Muñiz Jaén Cap. 7. Mé-tisser les mémoires. Musées indiens du nordeste brésilien. Martin Soares Cap. 8. El patrimonio como proceso social. Intervención, desarrollo y consumo del patrimonio minero en Andalucía. Macarena Hernández Ramírez y Esteban Ruiz Ballesteros Cap. 9. Legislación patrimonial, intervención pública y participación ciudadana en la declaración de un conjunto histórico. Iñaki Arrieta Urtizberea Cap. 10. El castillo de Montsoriu. La participación de la sociedad civil. Joaquim Mateu Gasquet Cap. 11. El patrimonio cultural; espacio de encuentro. Daniel Arnesio Lara Montero

Patrimonios culturales y museos: más allá de la Historia y del Arte

Cap. 1. La reinvención del museo etnológico. Xavier Roigé i Ventura Cap. 2. La mise en patrimoine du catharisme. Enjeux de territoire, enjeux d’identité. Marie-Carmen Garcia. Cap. 3. Más allá del museo. Las activaciones económicas del patrimonio: de los parques naturales a las fiestas temáticas. Agustí Andreu i Tomàs. Cap. 4. La patrimonialización de un territorio a través de los museos etnográficos: el caso de Extremadura. Aniceto Delgado Méndez. Cap. 5. La situación de los museos, colecciones, centros de interpretación y otros equipamientos patrimoniales del Alto Pirineo catalán. Jordi Abella Pons. Cap. 6. Patrimonio, conocimiento y dinamización. Una experiencia de trabajo en el Priorat (Catalunya). Salvador Palomar. Cap. 7. Experiencias de desarrollo local en el Pirineo aragonés basadas en la valorización del patrimonio. Aurelio García Gállego. Cap. 8. Las dimensiones sociales y culturales del patrimonio edificado: una propuesta para su estudio. Iñaki Arrieta Urtizberea.

Museos, memoria y turismo

Cap. 1. Museos y patrimonio: de la distancia retórica a la interlocución democrática. Iñaki Díaz Balerdi. Cap. 2. Au coeur des conflits entre memoire, histoire et developpement economique, les nouveaux enjeux des musees de société aujourd’hui. François Hubert. Cap. 3. Elites, Instituciones Públicas, identidad cultural y turismo en los orígenes del Museo Municipal de Donostia-San Sebastián. Iñaki Arrieta Urtizberea. Cap. 4. Los orígenes de la museografía etnográfica en Cataluña: el Arxiu-Museu Folklòric de Ripoll. Oriol Beltran Costa. Cap. 5. Museo de la Pesca en Palamós: espacio para la memoria de los pescadores. Miquel Martí i Llambrich. Cap. 6. Arqueología y museos en Gipuzkoa; las experiencias del Centro de Estudios ARKEOLAN (1986-2005). Mª Mercedes Urteaga Artigas. Cap. 7. Penser un Musée des Confluences: un autre discours sur soi et les autres que soi. Thierry Valentin. Cap. 8. Turismo cultural y museos: oportunidades de desarrollo comunes. El caso de Cesis, Letonia. María Fernández Sabau. Cap. 9. La gestión y el uso turístico de los museos: la experiencia de Barcelona. Jordi Juan Tresserras y Juan Carlos Matamala. Cap. 10. Museos, turismo y desarrollo local en el norte de Portugal: el Ecomuseo del Barroso. Xerardo Pereiro. Cap. 11. Turismo y patrimonio cultural en las pequeñas y medianas ciudades: el Barri Vell de Girona y el Museu d’Art de Girona. Josep Manuel Rueda Torres.

Advantages and Versatility of Fluorescence-Based Methodology to Characterize the Functionality of LDLR and Class Mutation Assignment

Familial hypercholesterolemia (FH) is a common autosomal codominant disease with a frequency of 1:500 individuals in its heterozygous form. The genetic basis of FH is most commonly mutations within the LDLR gene. Assessing the pathogenicity of LDLR variants is particularly important to give a patient a definitive diagnosis of FH. Current studies of LDLR activity ex vivo are based on the analysis of I-125-labeled lipoproteins (reference method) or fluorescent-labelled LDL. The main purpose of this study was to compare the effectiveness of these two methods to assess LDLR functionality in order to validate a functional assay to analyse LDLR mutations. LDLR activity of different variants has been studied by flow cytometry using FITC-labelled LDL and compared with studies performed previously with I-125-labeled lipoproteins. Flow cytometry results are in full agreement with the data obtained by the I-125 methodology. Additionally confocal microscopy allowed the assignment of different class mutation to the variants assayed. Use of fluorescence yielded similar results than I-125-labeled lipoproteins concerning LDLR activity determination, and also allows class mutation classification. The use of FITC-labelled LDL is easier in handling and disposal, cheaper than radioactivity and can be routinely performed by any group doing LDLR functional validations.

Birth Weight, Working Memory and Epigenetic Signatures in IGF2 and Related Genes: A MZ Twin Study

Neurodevelopmental disruptions caused by obstetric complications play a role in the etiology of several phenotypes associated with neuropsychiatric diseases and cognitive dysfunctions. Importantly, it has been noticed that epigenetic processes occurring early in life may mediate these associations. Here, DNA methylation signatures at IGF2 (insulin-like growth factor 2) and IGF2BP1-3 (IGF2-binding proteins 1-3) were examined in a sample consisting of 34 adult monozygotic (MZ) twins informative for obstetric complications and cognitive performance. Multivariate linear regression analysis of twin data was implemented to test for associations between methylation levels and both birth weight (BW) and adult working memory (WM) performance. Familial and unique environmental factors underlying these potential relationships were evaluated. A link was detected between DNA methylation levels of two CpG sites in the IGF2BP1 gene and both BW and adult WM performance. The BW-IGF2BP1 methylation association seemed due to non-shared environmental factors influencing BW, whereas the WM-IGF2BP1 methylation relationship seemed mediated by both genes and environment. Our data is in agreement with previous evidence indicating that DNA methylation status may be related to prenatal stress and later neurocognitive phenotypes. While former reports independently detected associations between DNA methylation and either BW or WM, current results suggest that these relationships are not confounded by each other.

The MLH1 c.1852_1853delinsGC (p.K618A) Variant in Colorectal Cancer: Genetic Association Study in 18,723 Individuals

Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.

Association between CASP8-652 6N Del Polymorphism (rs3834129) and Colorectal Cancer Risk: Results from a Multi-Centric Study

The common 2652 6N del variant in the CASP8 promoter (rs3834129) has been described as a putative low-penetrance risk factor for different cancer types. In particular, some studies suggested that the deleted allele (del) was inversely associated with CRC risk while other analyses failed to confirm this. Hence, to better understand the role of this variant in the risk of developing CRC, we performed a multi-centric case-control study. In the study, the variant 2652 6N del was genotyped in a total of 6,733 CRC cases and 7,576 controls recruited by six different centers located in Spain, Italy, USA, England, Czech Republic and the Netherlands collaborating to the international consortium COGENT (COlorectal cancer GENeTics). Our analysis indicated that rs3834129 was not associated with CRC risk in the full data set. However, the del allele was under-represented in one set of cases with a family history of CRC (per allele model OR = 0.79, 95% CI = 0.69-0.90) suggesting this allele might be a protective factor versus familial CRC. Since this multi-centric case-control study was performed on a very large sample size, it provided robust clarification of the effect of rs3834129 on the risk of developing CRC in Caucasians.

El desafío de exponer: procesos y retos museográficos

Il y a aussi des chapitres en français. There are also chapters in English. Cap. 1. El complicado arte de exponer. Iñaki Arrieta Urtizberea. Cap. 2. “Esta exposición no es para este museo”. Las salas permanentes del Museu Valencià d’Etnologia. Joan Segui. Cap. 3. Debunking, Decentralizing and Dissonance: Cultural Jamming @ Museum of Vancouver. Viviane Gosselin. Cap. 4. L’exposition des objets de cultures autochtones aujourd’hui, gain ou perte de sens? Le cas de l’exposition « C’est notre histoire... » au Musée de la civilisation de Québec. Daniel Arsenault et Nadine Desbiens. Cap. 5. El Born de Barcelona: exposiciones conmemorativas, límites, problemas y desafíos. Francesc Xavier Hernàndez Cardona. Cap. 6. Silencios y omisiones: narrando y exhibiendo la historia nacional. Magdalena Mieri. Cap. 7. Exhibiting the Commons. The Case of Tensta konsthall. Haizea Barcenilla Garcia. Cap. 8. Interactividad y patrimonio. Retos, tendencias y líneas de futuro. Núria Serrat Antolí.

Pseudohypoparathyroidism Type Ib Associated with Novel Duplications in the GNAS Locus

Context Pseudohypoparathyroidism type 1b (PHP-Ib) is characterized by renal resistance to PTH (and, sometimes, a mild resistance to TSH) and absence of any features of Albright's hereditary osteodystrophy. Patients with PHP-Ib suffer of defects in the methylation pattern of the complex GNAS locus. PHP-Ib can be either sporadic or inherited in an autosomal dominant pattern. Whereas familial PHP-Ib is well characterized at the molecular level, the genetic cause of sporadic PHP-Ib cases remains elusive, although some molecular mechanisms have been associated with this subtype. Objective The aim of the study was to investigate the molecular and imprinting defects in the GNAS locus in two unrelated patients with PHP-Ib. Design We have analyzed the GNAS locus by direct sequencing, Methylation-Specific Multiplex Ligation-dependent Probe Amplification, microsatellites, Quantitative Multiplex PCR of Short Fluorescent fragments and array-Comparative Genomic Hybridization studies in order to characterize two unrelated families with clinical features of PHP-Ib. Results We identified two duplications in the GNAS region in two patients with PHP-Ib: one of them, comprising similar to 320 kb, occurred 'de novo' in the patient, whereas the other one, of similar to 179 kb in length, was inherited from the maternal allele. In both cases, no other known genetic cause was observed. Conclusion In this article, we describe the to-our-knowledge biggest duplications reported so far in the GNAS region. Both are associated to PHP-Ib, one of them occurring 'de novo' and the other one being maternally inherited.

LDLR and PCSK9 Are Associated with the Presence of Antiphospholipid Antibodies and the Development of Thrombosis in aPLA Carriers

Introduction The identification of the genetic risk factors that could discriminate non-thrombotic from thrombotic antiphospholipid antibodies (aPLA) carriers will improve prognosis of these patients. Several human studies have shown the presence of aPLAs associated with atherosclerotic plaque, which is a known risk factor for thrombosis. Hence, in order to determine the implication of atherosclerosis in the risk of developing thrombosis in aPLA positive patients, we performed a genetic association study with 3 candidate genes, APOH, LDLR and PCSK9. Material & Methods For genetic association study we analyzed 190 aPLA carriers -100 with non-thrombotic events and 90 with thrombotic events-and 557 healthy controls. Analyses were performed by chi(2) test and were corrected by false discovery rate. To evaluate the functional implication of the newly established susceptibility loci, we performed expression analyses in 86 aPLA carrier individuals (43 with thrombotic manifestations and 43 without it) and in 45 healthy controls. Results Our results revealed significant associations after correction in SNPs located in LDLR gene with aPLA carriers and thrombotic aPLA carriers, when compared with healthy controls. The most significant association in LDLR gene was found between SNP rs129083082 and aPLA carriers in recessive model (adjusted P-value = 2.55 x 10(-3); OR = 2.18; 95% CI = 1.49-3.21). Furthermore, our work detected significant allelic association after correction between thrombotic aPLA carriers and healthy controls in SNP rs562556 located in PCSK9 gene (adjusted P-value = 1.03 x 10(-2); OR = 1.60; 95% CI = 1.24-2.06). Expression level study showed significantly decreased expression level of LDLR gene in aPLA carriers (P-value < 0.0001; 95% CI 0.16-2.10; SE 0.38-1.27) in comparison to the control group. Discussion Our work has identified LDLR gene as a new susceptibility gene associated with the development of thrombosis in aPLA carriers, describing for the first time the deregulation of LDLR expression in individuals with aPLAs. Besides, thrombotic aPLA carriers also showed significant association with PCSK9 gene, a regulator of LDLR plasma levels. These results highlight the importance of atherosclerotic processes in the development of thrombosis in patients with aPLA.