Large normal ('intermediate') alleles may produce de novo expansions in Huntington disease; nevertheless, there is very little evidence about their population prevalence and impact in daily practice, and there are conflicting reports about the extent of their instability. We estimated the frequency of large normal alleles (27-35 CAGs) and of reduced penetrance alleles (36-39 CAGs), as well as the frequency of genotypes carrying them, in (i) a diagnostic laboratory, (ii) a genetic counselling clinic and (iii) the general population. Large normal alleles were present in 6% of a large control sample, 7% of consultands who took pre-symptomatic testing and 7% of samples in the laboratory. Reduced penetrance alleles were found in 1 of 1772 control chromosomes (0.1% of individuals), 5% of 146 pre-symptomatic testees and over 2% of 1214 diagnostic samples (350 families). All 16 alleles sized 27-32 CAGs seemed to be transmitted stably; alleles ≥ 36 repeats were unstable in five families. Seven small full penetrance alleles contracted into the reduced penetrance range, but none into the large normal range. Evidence showed that large normal alleles are relatively frequent and that those with reduced penetrance are not a rare event, either at the laboratory or the clinic. This reinforces the need to understand the genomic context of repeat instability in each family and population.

ElsevierFurió Ferri, D.; González Gancedo, S.; Juan Lizandra, MC.; Seguí, I.; Costa, M. (2013). The effects of the size and weight of a mobile device on an educational game. Computers and Education. 64:24-41. doi:10.1016/j.compedu.2012.12.015. The effects of the size and weight of a mobile device on an educational game AbstractIn this paper, we present an educational game for an iPhone and a Tablet PC. The main objective of the game was to reinforce children's knowledge about the water cycle. The game included different interaction forms like the touch screen and the accelerometer and combined AR mini-games with non-AR mini-games for better gameplay immersion. The main differences between the two devices were screen size and weight. A comparative study to check how these differences affect different aspects was carried out. Seventy-nine children from 8 to 10 years old participated in the study. From the results, we observed that the different characteristics (screen size and weight) of the devices did not influence the children's acquired knowledge, engagement, satisfaction, ease of use, or AR experience. There was only a statistically significant difference for the global score in which the iPhone was scored higher. We would like to highlight that the scores for the two devices and for all the questions were very high with means of over 4 (on a scale from 1 to 5). These positive results suggest that games of this kind could be appropriate educational games and that the mobile device used may not be a decisive factor.

The implementation of an integrated approach of STEM education with real-life scenarios is crucial to motivate students to learn and to better prepare them for real-world challenges, which is a big challenge for teachers. Therefore, there are implications for teaching practice and consequently the need for professional development. This paper presents an integrated approach of STEM education developed in the context of a collaborative professional development programme implemented in an exclusive online context, provoked by the COVID-19 pandemic. The programme aimed at providing teachers with knowledge and skills to develop STEM integrated tasks to be implemented in class. This study used a quantitative–qualitative approach to answer the research questions, using mixed methods to collect data. Participants are primary school teachers who participated in the programme during four months in the school year 2020/2021. Based on data collected from questionnaires, participant observation and teachers’ final reports, it was verified that teachers recognized the importance of obtaining training in STEM education and that this type of professional development was very relevant and improved their knowledge and skills to implement STEM hands-on practices in class. In addition, a case study of a science and mathematics 6th grade teacher is presented to illustrate how she implement integrated STEM tasks in class based on a real-world scenario such as the COVID-19 pandemic. Finally, teachers recognized the importance of this approach and that it increases students’ motivation to learn.