Egon Toft

Long QT syndrome (LQTS) is a cardiac ion channelopathy which presents clinically with palpitations, syncope or sudden death. More than 700 LQTS-causing mutations have been identified in 13 genes, all of which encode proteins involved in the execution of the cardiac action potential. The most frequently affected genes, covering > 90% of cases, are KCNQ1, KCNH2 and SCN5A. We describe 64 different mutations in 70 unrelated Danish families using a routine five-gene screen, comprising KCNQ1, KCNH2 and SCN5A as well as KCNE1 and KCNE2. Twenty-two mutations were found in KCNQ1, 28 in KCNH2, 9 in SCN5A, 3 in KCNE1 and 2 in KCNE2. Twenty-six of these have only been described in the Danish population and 18 are novel. One double heterozygote (1.4% of families) was found. A founder mutation, p.F29L in KCNH2, was identified in 5 “unrelated” families. Disease association, in 31.2% of cases, was based on the type of mutation identified (nonsense, insertion/deletion, frameshift or splice-site). Functional data was available for 22.7% of the missense mutations. None of the mutations were found in 364 Danish alleles and only three, all functionally characterised, were recorded in the Exome Variation Server, albeit at a frequency of < 1:1000. The genetic etiology of LQTS in Denmark is similar to that found in other populations. A large founder family with p.F29L in KCNH2 was identified. In 48.4% of the mutations disease causation was based on mutation type or functional analysis.

The aim of this paper is to describe patients’ attitudes towards tele-rehabilitation in the Danish TELEKAT (for Telehomecare, Chronic Patients and the Integrated Healthcare System) project, in order to better understand patients’ behavior when performing tele-rehabilitation activities in home surroundings. A total of 111 COPD patients were included in the study, and they were randomized into an intervention group (n = 60) and a control group (n = 51). However, a non-randomized design was used to analyze the qualitative perspectives of the patients’ attitudes towards tele-rehabilitation. From the intervention group, 22 COPD patients were selected for qualitative interviews and participant observation in their homes. The theoretical framework for this study is based on learning theory and the “communities of practice” approach inspired by Etienne Wenger. COPD patients exhibit four types of attitudes about their tele-rehabilitation: indifference, learning as part of situations in everyday life, feeling of security and motivation for performing physical training. The patients express the view that they circulate between these attitudes depending on their physical and emotional state as they perform their training. The COPD patients and healthcare professionals have created a community of tele-rehabilitation across sectors, exchanging experiences, stories and strategies for how to manage rehabilitation in home surroundings.