Publications by authors named "Maria R Mitakidou"
Unlabelled: Cystic fibrosis (CF) is predominantly a lung disease but is also characterised by impaired skeletal muscularity and a reduction in fat-free mass. We aimed to test the hypothesis that clinical and anthropometric parameters would determine fat-free mass impairment in adolescents with CF. We measured the fat-free mass index (FFMI) using bioelectrical impedance, the lung function using spirometry, the number of shuttles as a measure of exercise tolerance and the reported physical activity in children and young people with CF in a tertiary centre at King's College Hospital, London, UK.
View Article and Find Full Text PDFArticle Synopsis
- The "epilepsy-dyskinesia" spectrum is a complex and challenging area in diagnosing neurogenetic and neurometabolic conditions due to variability in symptoms and lack of specific biomarkers.
- A detailed case study is presented of a teenage girl with unusual neurological symptoms starting from 14 months, showing progressive motor and cognitive issues, and multiple diagnostic tests returning unremarkable results.
- The article highlights the importance of differential diagnosis and management in cases with neurological regression and emphasizes the role of next-generation sequencing for rapidly identifying underlying causes of these conditions.