Search

Background Somatic and germline genetic alterations are significant drivers of cancer. Increasing integration of new technologies which profile these alterations requires timely, equitable and high-quality genetic counselling to facilitate accurate diagnoses and informed decision-making by patients and their families in preventive and clinical settings. This article aims to provide an overview of genetic counselling legislation and practice across European Union (EU) Member States to serve as a foundation for future European recommendations and action. Methods National legislative databases of all 27 Member States were searched using terms relevant to genetic counselling, translated as appropriate. Interviews with relevant experts from each Member State were conducted to validate legislative search results and provide detailed insights into genetic counselling practice in each country. Results Genetic counselling is included in national legislative documents of 22 of 27 Member States, with substantial variation in legal mechanisms and prescribed details (i.e. the 'who, what, when and where' of counselling). Practice is similarly varied. Workforce capacity (25 of 27 Member States) and genetic literacy (all Member States) were common reported barriers. Recognition and/or better integration of genetic counsellors and updated legislation and were most commonly noted as the 'most important change' which would improve practice. Conclusions This review highlights substantial variability in genetic counselling across EU Member States, as well as common barriers notwithstanding this variation. Future recommendations and action should focus on addressing literacy and capacity challenges through legislative, regulatory and/or strategic approaches at EU, national, regional and/or local levels. [ABSTRACT FROM AUTHOR]

Background/purpose: Chemotherapy-induced peripheral neuropathy (CIPN) is a prominent side effect of the treatment of cancer. Despite this frequent complication, there has been no comprehensive review and quality appraisal of CIPN assessments. The purpose of this study is to provide a definitive quality appraisal of CIPN assessment strategies for clinical use.Methods: Relevant studies were identified through database searches of Medline, Embase, CINAHL, and Cochrane. CIPN assessment strategies from included articles were extracted and initially rated by an oncologist and neurophysiologist according to criteria related to assessment depth, comprehensiveness, appropriateness, and reliability. The six highest scoring assessment strategies were the focus of a two-round Delphi survey of a working party of 32 physicians, nurses, and consumers to achieve consensus on the highest rated assessments for each criterion.Results: The database search yielded 117 distinct CIPN assessments that were extracted from 2373 articles. Three patient-reported outcome surveys and three clinician-based assessments were included in the Delphi survey. No consensus was generated regarding the best overall CIPN assessment, although good (≥70%) consensus was achieved regarding the best assessment within each criterion. The Participant Neurotoxicity Questionnaire (PNQ) was rated the highest overall and patient-reported outcome (PRO) assessment, while the Total Neuropathy Score clinical version (TNSc) was the highest rated clinician-based assessment.Conclusions: A diverse range of CIPN assessments currently exists. While several assessments assess CIPN symptoms with adequate comprehensiveness, depth, language, and feasibility, the consensus 'gold standard' clinical assessment remains to be established. [ABSTRACT FROM AUTHOR]

Purpose: Musicians are labelled 'fine motor athletes' due to the significant demands of practice and performance. In response, sports medical concepts and expertise have been adapted and mobilized to address musicians' health considerations. However, understanding distinct differences between the sports and performing arts medical contexts is critical. Mismanagement of fatigue and acute fatigability are identified as key risk factors for deleterious symptoms and injuries in musicians. Acute fatigability in athletes and musicians have been assumed to occur similarly, although this has yet to be empirically demonstrated. This study aimed to evaluate acute muscular performance fatigability during piano performance of varied intensities., Methods: Fourteen university pianists attended a single experimental session and performed three pieces of randomly ordered repertoire for 10 minutes each. Repertoire were self-selected to be physically easy (rating of perceived exertion [RPE] 9/20), somewhat hard (RPE 13/20), or hard (RPE 17/20). At baseline, after each repertoire performance, and following a concluding 10-minute silent sitting period, participants completed maximum voluntary contraction (MVC) grip and shoulder strength tests. Surface electromyographic (EMG) data were obtained from bilateral upper trapezius and forearm flexor and extensor muscles. Data were analyzed using uni- and multivariate repeated measures analyses of variance (ANOVAs)., Results: No evidence of muscular performance fatigability was found in study pianists at any intensity. Mean EMG amplitude and average median EMG frequency did not significantly vary during any repertoire performances or MVC tests (F≤1.72; p>0.09). Additionally, no changes in force or EMG parameters were found during any MVC tests (F≤1.19; p>0.31)., Conclusions: The absence of muscular performance fatigability during even the most intense piano performances suggests substantially differing mechanisms of fatigability and perceived exertion in pianists versus those commonly seen in sport athletes. Further research is needed to understand the mechanisms of acute fatigability in musicians and develop musician-specific management strategies.