Background: Occupational stress among healthcare workers negatively impacts job satisfaction and patient care quality, jeopardizing healthcare system sustainability. Traditional employer-driven approaches often fail to address these challenges comprehensively, leading to persistent gaps in work condition transparency and well-being.
Aims: To elucidate the working conditions of health workers and introduce a worker-centred, technology-based strategy moving beyond traditional practices and entrenched medical culture.
Background: Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one.
Methods: A patient presenting the symptoms of myotonia congenita was shown to bear a new heterozygous missense variant in exon 9 of the CLCN1 gene (c.