La traducción audiovisual como itinerario de especialización en la formación de traductores

Eterio Pajares, Raquel Merino y José Miguel Santamaría (eds.)

Evidence for classification of c.1852_1853AA > GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS. Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers. Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients. Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Estrategias de lectura on-line en inglés como lengua extranjera

XXIV, 508 p.

El arte como mediador entre el artista y el trauma. Acercamientos al arte desde el psicoanalisis y la escultura de Louise Bourgeois

411 p. : il., col.

Language distance and non-native syntactic processing: Evidence from event-related potentials

[EN] In this study, we explore native and non-native syntactic processing, paying special attention to the language distance factor. To this end, we compared how native speakers of Basque and highly proficient non-native speakers of Basque who are native speakers of Spanish process certain core aspects of Basque syntax. Our results suggest that differences in native versus non-native language processing strongly correlate with language distance: native/non-native processing differences obtain if a syntactic parameter of the non-native grammar diverges from the native grammar. Otherwise, non-native processing will approximate native processing as levels of proficiency increase. We focus on three syntactic parameters: (i) the head parameter, (ii) argument alignment (ergative/accusative), and (iii) verb agreement. The first two diverge in Basque and Spanish, but the third is the same in both languages. Our results reveal that native and non-native processing differs for the diverging syntactic parameters, but not for the convergent one. These findings indicate that language distance has a significant impact in non-native language processing.

Ergatiboa definitzen: lehengo saioa gramatika sortzailean

Xabier Artiagoitia Beaskoetxea (coord.), Patxi Goenaga Mendizabal (coord.) , Joseba Andoni Lakarra Andrinua (coord.). Anejo del Anuario del Seminario de Filología Vasca "Julio de Urquijo", 44.

La migración transnacional y los procesos de integración en las sociedades de destino. Una mirada a la población colombiana residente en la Comunidad Autónoma del País Vasco

411 p.

Analytical strategies to solve problems in industrial and official laboratories

210 p.