2 resultados para Old Norse language

em ABACUS. Repositorio de Producción Científica - Universidad Europea


Relevância:

20.00% 20.00%

Publicador:

Resumo:

With increasing international mobility, higher education must cater to the varying linguistic and cultural needs of students. Successful delivery of courses through English as the vehicular language is essential to encourage international enrollment. However, this cannot be achieved without preparing university professors in the many intricacies delivering their subjects in English may pose. This paper aims to: share preliminary data concerning Content and Language Integrated Learning (CLIL) at Laureate Network Universities worldwide as few studies have been conducted at the tertiary level, reflect upon data regarding student and teacher satisfaction with CLIL at the Universidad Europea de Madrid (UEM), and to propose improvements in English-taught subjects.

Relevância:

20.00% 20.00%

Publicador:

Resumo:

McArdle disease is a metabolic disorder caused by pathogenic mutations in the PYGM gene. Timely diagnosis can sometimes be difficult with direct genomic analysis, which requires additional studies of cDNA from muscle transcripts. Although the "nonsense-mediated mRNA decay" (NMD) eliminates tissue-specific aberrant transcripts, there is some residual transcription of tissue-specific genes in virtually all cells, such as peripheral blood mononuclear cells (PBMCs).We studied a subset of the main types of PYGM mutations (deletions, missense, nonsense, silent, or splicing mutations) in cDNA from easily accessible cells (PBMCs) in 12 McArdle patients.Analysis of cDNA from PBMCs allowed detection of all mutations. Importantly, the effects of mutations with unknown pathogenicity (silent and splicing mutations) were characterized in PBMCs. Because the NMD mechanism does not seem to operate in nonspecific cells, PBMCs were more suitable than muscle biopsies for detecting the pathogenicity of some PYGM mutations, notably the silent mutation c.645G>A (p.K215=), whose effect in the splicing of intron 6 was unnoticed in previous muscle transcriptomic studies.We propose considering the use of PBMCs for detecting mutations that are thought to cause McArdle disease, particularly for studying their actual pathogenicity.