5 resultados para proposed curriculum

em Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco


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[EN]Traditionally writing skills have been given priority in language teaching and so, oral skills have been put aside. However, during the last years many voices have asserted the importance of oral skills. Therefore, they claim that oral language teaching must be emphasized at school. Also, the necessity of strengthening oral language is shown in the new curriculum. Nevertheless, those intentions are reflected in very different ways in textbooks. In this work we have looked into the treatment that oral language is given in teaching materials because, in our opinion, textbooks are one of the most important tools for teachers. The facts show that the importance given to oral language and the exercises and tools needed to work that skill are very different from one publishing house to another. Besides, we have confirmed that all the textbooks don’t satisfy the requirements proposed in the Basque official curriculum (e.g. didactic sequences) or that the approach to the text or the way to work with it are not always what they should be. Therefore, it is obvious that we have still a long way in the field of oral language and specially in the way of teaching oral skills

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Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H+ -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status. Afterwards, ATP6V0A4 gene study in dRTA patients with normal hearing, and in those without any structural mutation in the ATP6V1B1 gene despite presenting SNHL. Finally, analysis of the SLC4A1 gene in those patients with a negative result for the previous studies. Methods: 25 children (19 boys) with dRTA from 20 families of Tunisian origin were studied. DNAs were extracted by the standard phenol/chloroform method. Molecular analysis was performed by PCR amplification and direct sequencing. Results: In the index cases, ATP6V1B1 gene screening resulted in a mutation detection rate of 81.25%, which increased up to 95% after ATP6V0A4 gene analysis. Three ATP6V1B1 mutations were observed: one frameshift mutation (c.1155dupC; p.Ile386fs), in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site (c.175-1G > C; p.?) in intron 2, and one novel missense mutation (c. 1102G > A; p. Glu368Lys), in exon 11. We also report four mutations in the ATP6V0A4 gene: one single nucleotide deletion in exon 13 (c.1221delG; p. Met408Cysfs* 10); the nonsense c.16C > T; p.Arg6*, in exon 3; and the missense changes c.1739 T > C; p.Met580Thr, in exon 17 and c.2035G > T; p.Asp679Tyr, in exon 19. Conclusion: Molecular diagnosis of ATP6V1B1 and ATP6V0A4 genes was performed in a large Tunisian cohort with dRTA. We identified three different ATP6V1B1 and four different ATP6V0A4 mutations in 25 Tunisian children. One of them, c.1102G > A; p.Glu368Lys in the ATP6V1B1 gene, had not previously been described. Among deaf since childhood patients, 75% had the ATP6V1B1 gene c. 1155dupC mutation in homozygosis. Based on the results, we propose a new diagnostic strategy to facilitate the genetic testing in North Africans with dRTA and SNHL.

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Capítulo del libro: Balluerka Lasa, Nekane; Alkorta Idiakez, Itziar (eds.) "Desarrollo curricular de las nuevas titulaciones de grado" (ISBN: 978-84-9860-533-4)

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[eus] Ikerketa honen bidez, Euskal Autonomia Erkidegoan erabiltzen diren Lehen Hezkuntzako lehenengo zikloko ingeleseko testuliburuak hizkuntzen ikaskuntzaren teoriei, Europako Erreferentzia Marko Bateratuari eta Curriculum dokumentuei egokitzen zaizkien baieztatu nahi izan da. Horretarako, aipatutako teorietan eta dokumentuetan oinarrituta, sei aldagai diseinatu eta, horiek erabiliz, Euskal Autonomia Erkidegoan erabiltzen diren sei testuliburu aztertu dira. Ikerketatik ondorioztatzen da aztertutako testuliburuak ez datozela bat legediaren ikuspegi komunikatiboarekin ezta atazetan oinarritutako ikaskuntzarekin ere. Hala ere, hizkuntzaren inputa testuinguruan ematen dute eta, Curriculumean eskatzen den bezala, aspektu kulturalak lantzen dituzte.