Background The pyruvate dehydrogenase complex (PDC) catalyzes the irreversible decarboxylation of pyruvate into acetyl-CoA. PDC deficiency can be caused by alterations in any of the genes encoding its several subunits. The resulting phenotype, though very heterogeneous, mainly affects the central nervous system. The aim of this study is to describe and discuss the clinical, biochemical and genotypic information from thirteen PDC deficient patients, thus seeking to establish possible genotype–phenotype correlations. Results The mutational spectrum showed that seven patients carry mutations in the PDHA1 gene encoding the E1α subunit, five patients carry mutations in the PDHX gene encoding the E3 binding protein, and the remaining patient carries mutations in the DLD gene encoding the E3 subunit. These data corroborate earlier reports describing PDHA1 mutations as the predominant cause of PDC deficiency but also reveal a notable prevalence of PDHX mutations among Portuguese patients, most of them carrying what seems to be a private mutation (p.R284X). The biochemical analyses revealed high lactate and pyruvate plasma levels whereas the lactate/pyruvate ratio was below 16; enzymatic activities, when compared to control values, indicated to be independent from the genotype and ranged from 8.5% to 30%, the latter being considered a cut-off value for primary PDC deficiency. Concerning the clinical features, all patients displayed psychomotor retardation/developmental delay, the severity of which seems to correlate with the type and localization of the mutation carried by the patient. The therapeutic options essentially include the administration of a ketogenic diet and supplementation with thiamine, although arginine aspartate intake revealed to be beneficial in some patients. Moreover, in silico analysis of the missense mutations present in this PDC deficient population allowed to envisage the molecular mechanism underlying these pathogenic variants. Conclusion The identification of the disease-causing mutations, together with the functional and structural characterization of the mutant protein variants, allow to obtain an insight on the severity of the clinical phenotype and the selection of the most appropriate therapy.

Technological skills development is a central issue for a country’s educational and social policies. Throughout their school career, from primary to secondary education and later in higher education, students have the opportunity to build and develop various skills, including technological. Considering the different needs and different uses that these skills encompass, these will certainly be necessary and useful in students’ academic and professional life. This study reports on an investigation of technological skills development in higher education. It aims to analyze the relevance of technologies integration, which technological skills are built and developed by higher education students, and what their perception about the importance of technological skills is. Based on a literature review, an online questionnaire was designed and applied to 217 students from three public higher education institutions located in the North, Center, and South of Portugal. This intended to verify which areas of technological skills (from the European Digital Competence Framework for Citizens) are most developed and to understand respective repercussions. It is concluded that the balanced development of students’ technological skills in higher education is crucial for their personal, social, and professional future and consequently, for their quality of life, with the integration of digital technologies being relevant in the change of the academic work organization, in the relations between learners, teachers, and institutions, and in the new ways of teaching and learning.

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Key Clinical MessageMethylmalonic aciduria children must follow an adequate diet with low protein intake and should be regularly monitored to prevent complications. Although skin lesions like acrodermatitis enteropathica are rare in this disease, their appearance should be correlated with possible low plasma isoleucine level and it can be a sign of decompensation.

A revolução digital contemporânea, a par da economia global, trouxe novos horizontes e desafios à educação, nomeadamente a necessidade de construir e desenvolver novas competências e uma cultura digital em contexto educativo. A integração das tecnologias digitais no processo de formação de professores apresenta diversas dificuldades e constrangimentos e, por sua vez, desafios, sobre os quais é importante refletir. Utilizando uma metodologia de estudo de casos múltiplos, foram analisados dois processos de formação de professores, um caso num curso de formação inicial e outro num projeto de formação continuada de professores. Os resultados salientaram a importância da relação entre a integração educativa das tecnologias digitais e a necessidade de utilização de metodologias e técnicas pedagógicas ativas. As principais dificuldades identificadas incluíram a falta de tempo, a visão restrita do potencial pedagógico das tecnologias e a resistência à mudança, a falta de equipamentos tecnológicos e de suporte técnico, colocando-se o desafio fundamental na necessidade de uma formação de professores eficaz na integração pedagógica das tecnologias digitais.

Digital technologies have been playing an increasingly relevant role in the personal, social, academic, and professional lives of all citizens, especially after the Covid-19 pandemic. As a result, the technological skills development is a central issue for any country's education and development policies. Throughout school life, young people in primary and secondary education, and later, in Higher Education Institutions (HEIs), to a greater or lesser degree, have the opportunity to build and develop various skills, namely technological. These will certainly be useful in their academic, social, and professional future life. In this way, it is intended to study which technological skills are built and developed by higher education students and what their perception about the importance of technological skills in employment, personal life, and social relationships in the future. There will be a literature review that will serve as a basis for the design of an online questionnaire to be applied to HEIs students, to verify which areas of technological skills (based on the European Digital Competence Framework for Citizens) are most developed and understand repercussions they may have on the professional, personal, and social future of these students and for their future quality of life. The questionnaire was tested, reviewed by experts, and applied to students from three public education institutions located in the North, Centre, and South of Portugal. A summary of the results obtained with this questionnaire is presented.

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