The mucopolysaccharidoses (MPS) are rare inborn errors of metabolism. They are caused by defects in enzymes which are necessary for the degradation of mucopolysaccharides. An effective causal treatment is not available as yet. Nevertheless, it is the duty of the doctor, both from the medical and human aspect to assist MPS patients and their families physically and psychologically over many years. This task needs much empathy, working morale and knowledge of these diseases on the part of the medical adviser involved, but also demonstrates the limitations of active medical treatment. Since 10 years the "Austrian Society for Mucopolysaccharidoses" has tried to fill the gap between the MPS families' need for help and the still discouraging current medical treatment prospectives.
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Nat Cancer
January 2025
Cancer Research UK Lung Cancer Centre of Excellence, University College London Cancer Institute, London, UK.
Human tumors are diverse in their natural history and response to treatment, which in part results from genetic and transcriptomic heterogeneity. In clinical practice, single-site needle biopsies are used to sample this diversity, but cancer biomarkers may be confounded by spatiogenomic heterogeneity within individual tumors. Here we investigate clonally expressed genes as a solution to the sampling bias problem by analyzing multiregion whole-exome and RNA sequencing data for 450 tumor regions from 184 patients with lung adenocarcinoma in the TRACERx study.
View Article and Find Full Text PDFBMC Public Health
January 2025
Institute for Social Marketing and Health, University of Stirling, Stirling, Scotland.
Background: To explore continuities and changes in gambling behaviour during the COVID-19 pandemic and the factors that influenced these among a sample of regular sports bettors.
Methods: A longitudinal qualitative study using in-depth interviews. Sixteen sports bettors living in Britain took part in the first interviews in July-November 2020, and 13 in the follow-up interviews in March-September 2021.
Small
January 2025
School of Chemistry and Chemical Engineering, University of Surrey, GU2 7XH, Guildford, UK.
Pharmacol Res
January 2025
Department of Anaesthesiology, Intensive Care and Pain Medicine, University Hospital Muenster, Albert-Schweitzer-Campus 1, 44651 Muenster, Germany. Electronic address:
Lancet Oncol
January 2025
Melanoma World Society, HERACLIN Institute for Data Management in Healthcare, Neuenhagen, Germany.
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