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Contains fulltext : 245669.pdf (Publisher’s version ) (Open Access) Cystathionine β-synthase (CBS) deficiency has a wide clinical spectrum, ranging from neurodevelopmental problems, lens dislocation and marfanoid features in early childhood to adult onset disease with predominantly thromboembolic complications. We have analysed clinical and laboratory data at the time of diagnosis in 328 patients with CBS deficiency from the E-HOD (European network and registry for Homocystinurias and methylation Defects) registry. We developed comprehensive criteria to classify patients into four groups of pyridoxine responsivity: non-responders (NR), partial, full and extreme responders (PR, FR and ER, respectively). All groups showed overlapping concentrations of plasma total homocysteine while pyridoxine responsiveness inversely correlated with plasma/serum methionine concentrations. The FR and ER groups had a later age of onset and diagnosis and a longer diagnostic delay than NR and PR patients. Lens dislocation was common in all groups except ER but the age of dislocation increased with increasing responsiveness. Developmental delay was commonest in the NR group while no ER patient had cognitive impairment. Thromboembolism was the commonest presenting feature in ER patients, whereas it was least likely at presentation in the NR group. This probably is due to the differences in ages at presentation: all groups had a similar number of thromboembolic events per 1000 patient-years. Clinical severity of CBS deficiency depends on the degree of pyridoxine responsiveness. Therefore, a standardised pyridoxine-responsiveness test in newly diagnosed patients and a critical review of previous assessments is indispensable to ensure adequate therapy and to prevent or reduce long-term complications.

The aim is to explore and evaluate the aggregate demand of the Slovak population for domestic volunteer tourism. The answers from 573 questionnaire respondents older than 15 years, selected by convenient sampling, were processed establishing a representative image of the Slovak population in terms of age and gender. The findings show an average 3-4% of the population participating in domestic volunteer tourism in Slovakia per year. While participation declines with age, it increases with higher education. The research confirmed that the volunteer tourism could be perceived as a combination of travel and volunteering not only in developing countries, but also in developed ones. It was also found that domestic volunteer tourism in Slovakia partly copies the development of volunteer tourism abroad and has the potential to grow. The demand of Slovak residents for domestic volunteer tourism is significant, and therefore, it is necessary to properly respond with consistent coordination of supply.