Von Hippel-Lindau (VHL) disease is an inherited tumour predisposition syndrome and a paradigm for the importance of early diagnosis and surveillance. However, there is limited information on the ..."real world" management of VHL disease.
A national audit of VHL disease in the United Kingdom.
VHL disease was managed mostly via specialist clinics coordinated through regional clinical genetics services (but frequently involving additional specialties). Over the study period, 19 genetic centres saw 842 individuals (393 males, 449 females) with a clinical and/or molecular diagnosis of VHL disease and 74 individuals (35 male, 39 female) with a prior risk of 50% (affected parent). All centres offered retinal, central nervous system and abdominal surveillance to affected individuals and at-risk relatives though surveillance details differed between centres (but complied with international recommendations). Renal lesions detected on the first surveillance scan were, on average, larger than those detected during subsequent scans and the larger the diameter at detection the greater the likelihood of early intervention.
In a state-funded health care system individuals with a rare inherited cancer predisposition syndrome are generally able to access appropriate surveillance and patient management is improved compared to historical data. The "real world" data from this study will inform the future development of VHL management protocols.
SDHA pathogenic germline variants (PGVs) are identified in up to 10% of patients with paraganglioma and phaeochromocytoma and up to 30% with wild-type gastrointestinal stromal tumours. Most SDHA PGV ...carriers present with an apparently sporadic tumour, but often the pathogenic variant has been inherited from parent who has the variant, but has not developed any clinical features. Studies of SDHA PGV carriers suggest that lifetime penetrance for SDHA-associated tumours is low, particularly when identified outside the context of a family history. Current recommended surveillance for SDHA PGV carriers follows an intensive protocol. With increasing implementation of tumour and germline large panel and whole-genome sequencing, it is likely more SDHA PGV carriers will be identified in patients with tumours not strongly associated with SDHA, or outside the context of a strong family history. This creates a complex situation about what to recommend in clinical practice considering low penetrance for tumour development, surveillance burden and patient anxiety. An expert SDHA working group was formed to discuss and consider this situation. This paper outlines the recommendations from this working group for testing and management of SDHA PGV carriers in clinical practice.
This article addresses interprofessional education (IPE) using a case study evaluating a multidisciplinary MSc course in child health. The participants felt that the nature of the course increased ...their interprofessional working skills and professional confidence. They described benefits, including new insights, a balanced variety of views, development of respect and equality between professionals, improved communication and a holistic approach to child health.
The authors are all devoted energy system and sustainability transformation scholars, who collaborate regularly and actively at global and local levels to advance the knowledge space of demand-side ...solutions and policies. They are members of a growing bottom-up initiative, the Energy Demand Changes Induced by Technological and Social Innovations (EDITS) network (https://iiasa.ac.at/projects/edits), which builds on various research disciplines to facilitate advances in modeling, data compilation, and analysis of the scope and breadth of the potential contributions of demand-side solutions for climate change mitigation, improved wellbeing for all, and sustainability, complementing supply-side solutions for decarbonizing the energy and material systems.
Demand-side solutions can deliver higher wellbeing with less energy and material use. However, there is a paucity of such research. There is an urgent need for advancing modeling, data collection, policy analysis, and interdisciplinary collaboration to integrate demand-side solutions. In this commentary, we show how high levels of wellbeing can be provided with low energy and material demand around the world. We articulate a set of knowledge gaps and research priorities to provide a solid evidence base for scientific assessments and policy recommendations.
Rhythmik - Musik und Bewegung Marianne Steffen-Wittek, Dorothea Weise, Dierk Zaiser / Marianne Steffen-Wittek, Dorothea Weise, Dierk Zaiser
2019
eBook
Lange vor dem ›body turn‹ eröffnete Émile Jaques-Dalcroze (1865-1950) mit seiner musikpädagogischen Konzeption neue Perspektiven auf die Verkörperung von Musik. Die moderne Rhythmik befragt und ...erweitert die Vernetzung von Musik und Bewegung - auch in Verbindung mit transdisziplinären Themen wie Wahrnehmung, Entrainment, Medientransfer, kinästhetischem Hören und Aspekten künstlerischer Gestaltung.Der Band eröffnet einen facettenreichen Einblick in historische Bezüge sowie theoretische Grundlagen der Rhythmik als disziplinübergreifende Praxisforschung. Markante Spots beleuchten die Vielfalt der künstlerischen und pädagogischen Praxis der Rhythmik - flankiert durch zahlreiche Hinweise auf multimediale Datenquellen.
PDF
