No abstract
Background: Variant transthyretin amyloidosis (ATTRv) is an autosomal dominant inherited disease, where the mutation of the transthyretin gene (TTR) results in the deposition of pathogenic protein fibrils in various tissues. The mutation type influences the clinical course. Until now, no data were available on the genotype, phenotype, and prevalence of Hungarian ATTRv patients. The aim of our study was to assess the prevalence, regional distribution, genotypes, and phenotypes of Hungarian patients with ATTRv. Methods: With the collaboration of Hungarian regional and university centers, we identified patients diagnosed with ATTRv. We also searched prior publications for case studies of Hungarian ATTRv patients. Results: 40 individuals in 23 families with ATTRv were identified within the borders of Hungary. At the time of the diagnosis, 24 of them were symptomatic. The two most common mutations were ATTRHis88Arg (nine families) and ATTRIle107Val (8 families). ATTRVal30Met was demonstrated in 2 families, and ATTRVal122del, ATTRPhe33Leu, ATTRIle84Ser, and ATTRAsp18Gly in one family each. The median age of the symptomatic patients at the time of clinical diagnosis was 65 years. The most common clinically significant organ involvement was restrictive cardiomyopathy, found in 24 patients. Polyneuropathy was diagnosed in 20 patients. A total of 19 patients showed a mixed phenotype. The leading symptom was heart failure in 8 cases (3 of them had only cardiac symptoms), polyneuropathy in 11 cases (all of them also had cardiac symptoms), and equally severe cardiac and neuropathy symptoms were present in 3 cases. Out of 24 symptomatic patients, 10 received targeted pharmacological therapy. The follow-up period ranged from 1 to 195 months. At the time of the retrospective analysis, 12 patients had already died, and 1 patient underwent heart transplantation. Conclusions: As TTR genotype influences the phenotype and clinical course of ATTRv, it is important to know the regional data. In Hungary, ATTRHis88Arg and ATTRIle107Val are the most common mutations in ATTRv, both presenting with mixed phenotype, but the median age at the time of the diagnosis is 9 years lower in patients with ATTRHis88Arg than in patients with ATTRIle107Val.
Regular physical activity from an early age is an important part of a healthy life because if we incorporate exercise early into our lifestyle, we are more likely to maintain our commitment to sport into adulthood and even throughout our lives. In our research, we used the PERSIST 2019 database, which contains data from students at higher education institutions in Hungary, Slovakia, Romania, Ukraine, and Serbia. We used factor analysis to isolate four sports motivation factors (intrinsic, introjected, extrinsic, and amotivation). Factors influencing the different types were measured using linear regression analysis, involving the variables in four models. The results show that the effects of the sociodemographic variables are significant for gender, country, and mother’s job, especially in terms of intrinsic, introjected, and extrinsic motivation. The role of coping is salient for health awareness factors, with a positive effect on intrinsic motivation and a negative effect on the other types. The impacts of quality of education and support are typically negative, while the positive effect of satisfaction with infrastructure is noteworthy. The effect of persistence in sport on intrinsic and introjected motivation is positive. Frequency of training increases intrinsic motivation, while practical sport embeddedness generates extrinsic motivation. In terms of relationships, a mainly teacher-oriented network within the institution typically has a negative effect on intrinsic motivation, while peer relationships outside the institution typically increase intrinsic and extrinsic sport motivation. Academic persistence has a positive effect on intrinsic motivation and a negative effect on introjected motivation. Our research highlights the complexity of factors influencing sport motivation and the role of coping, which typically remains strong when relationship-related variables are included. In addition, we must emphasise the dominant role of relationship network patterns, which may even reduce commitment to sport.
Foreign language learning is often the key educational objective for non-English speakers in deprived background. The command of a foreign language represents aims, possibilities and a way-out. Moreover, the term of language aptitude has always been an extremely important value to predict how fast and effectively language learners can acquire foreign languages. However, the negative meta-linguistical prognosis (I have bad ears for/bad sense of the language) easily creates a ground for self-misconception for learners, which can lead to prolonged failures in language learning as well as a learner's attitude, which will always put the blame on the difficulties or the impossibility of acquiring a foreign language. There have been countless studies on the education of pupils from disadvantaged background, however papers and research analysing foreign language learning among these pupils are scarce. In this article we hope to shed light upon current research findings, developments focusing on pupils from deprived background.
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