Search

Background: This paper details the results of an evaluation of the level of consensus amongst clinicians on the use of ataluren in both ambulatory and non-ambulatory patients with nonsense mutation Duchenne muscular dystrophy (nmDMD). The consensus was derived using a modified Delphi methodology that involved an exploration phase and then an evaluation phase. Methods: The exploration phase involved 90-minute virtual 1:1 interviews of 12 paediatric neurologists who cared for 30–120 DMD patients each and had patient contact every one or two weeks. The respondents managed one to ten nmDMD patients taking ataluren. The Discussion Guide for the interviews can be viewed as Appendix A. Following the exploration phase interviews, the interview transcripts were analysed by an independent party to identify common themes, views and opinions and developed 43 draft statements that the Steering Group (authors) reviewed, refined and endorsed a final list of 42 statements. Details of the recruitment of participants for the exploration and evaluation phases can be found under the Methods section. Results: A consensus was agreed (> 66% of respondents agreeing) for 41 of the 42 statements using results from a consensus survey of healthcare professionals (n = 20) experienced in the treatment of nmDMD. Conclusions: The statements with a high consensus suggest that treatment with ataluren should be initiated as soon as possible to delay disease progression and allow patients to remain ambulatory for as long as possible. Ataluren is indicated for the treatment of Duchenne muscular dystrophy that results from a nonsense mutation in the dystrophin gene, in ambulatory patients aged 2 years and older (see Summary of Product Characteristics for each country) [ABSTRACT FROM AUTHOR]

Background: Parkinson's disease is incurable, and the rate of progression varies meaning that people face a long future with an unpredictable condition that can significantly influence their quality of life. To date, much of the international research has focused on measuring and describing quality of life in Parkinson's from a quantitative perspective. Given its multidimensional nature, the present study aims to explore the concept using a qualitative approach so factors influencing self-reported quality of life can be understood in greater depth. Methods: Using a qualitative descriptive approach, people with Parkinson's disease who were survey participants in the first phase of a mixed methods study exploring factors influencing health-related quality of life were invited to participate in semi-structured interviews. Eighteen participants with high (n = 6), average (n = 6), and low (n = 6) health-related quality of life (PDQ-39 SI scores) were purposively invited to participate in this study. Audio recordings were transcribed and thematically analysed using Braun and Clarke's steps (familiarisation, generating initial codes, searching for themes, reviewing, defining, naming themes, and producing the report). Results: Thematic analysis revealed four overarching themes; 'Living an interrupted life,' 'Striving for 'I' in independence,' 'Unravelling identities, roles, and relationships' and 'Reconfiguring life'. These themes illuminated participants' experiences of living with Parkinson's disease and what influenced their overall quality of life. Conclusions: These findings add to the international literature by helping to achieve a deeper understanding of what it means to live with Parkinson's disease and how it influences quality of life. Participants experienced a range of fluctuating, and interconnected motor and non-motor symptoms. This finding draws attention to the impact of the often-unpredictable nature of the condition on the physical, functional, psychological, social, and spiritual dimensions of life. Quality of life was positively influenced by perceptions of independence and negative feelings of dependence. Being independent was associated with freedom to plan, autonomy of choice, and freedom from feeling stressed, strained, or fearful. Having a positive outlook, using problem-focused strategies, and participating in hobbies, holidays, work, and involvement in local community committees were perceived positively across interviews as accentuating social dimensions of life. Resourcing self-management strategies, advanced nursing roles, and developing personalised models of community support may assist healthcare professionals in meeting the unique needs of people with Parkinson's disease thereby supporting quality of life. [ABSTRACT FROM AUTHOR]

Background: An innovative, integrative care model for people with Parkinson (PRIME Parkinson) has gradually been implemented in a selected region of the Netherlands since 2021. A prospective evaluation of this model (PRIME-NL study) was initiated in parallel, spanning the year prior to implementation (baseline) and the implementation period. Following publication of the original study protocol, the COVID-19 crisis delayed implementation of the full PRIME Parkinson care model by two years and hampered the recruitment of study participants. Objective: To describe which methodological adjustments were made to the study protocol because of these developments. Methods: We compare various outcomes between a region where PRIME Parkinson care was implemented (innovation region) versus the rest of the Netherlands (usual care region). We use healthcare claims data of virtually all people with Parkinson in the Netherlands and annual questionnaires in a representative subsample of 984 people with Parkinson, 566 caregivers and 192 healthcare professionals. Four major methodological adjustments had to be made since publication of the original protocol. First, we extended the evaluation period by two years. Second, we incorporated annual process measures of the stage of implementation of the new care model. Third, we introduced a real-time iterative feedback loop of interim results to relevant stakeholders. Fourth, we updated the statistical analysis plan. Discussion: This manuscript provides transparency in how the design and analyses of the evaluation study had to be adapted to control for external influences in a dynamic environment, including eruption of the COVID-19 crisis. Our solutions could serve as a template for evaluating other complex healthcare interventions in a dynamic environment. [ABSTRACT FROM AUTHOR]

Background: Transitioning home from the structured hospital setting poses challenges for people with stroke (PWS) and their caregivers (CGs), as they navigate through complex uncertainties. There are gaps in our understanding of appropriate support interventions for managing the transition home. In this qualitative study, we explored the perspectives of PWS and their CGs regarding their support experiences and preferences during this period. Methods: Between November 2022 and March 2023, and within six months of hospital discharge, audio-recorded, semi-structured interviews were conducted with PWS and CGs. All interviews were transcribed, imported into NVivo software, and analysed using reflexive thematic analysis. Results: Sixteen interviews were conducted, nine with PWS and seven with CGs. Four themes relevant to their collective experiences and preferences were identified: (i) Need for tailored information-sharing, at the right time, and in the right setting; (ii) The importance of emotional support; (iii) Left in limbo, (iv) Inequity of access. Experiences depict issues such as insufficient information-sharing, communication gaps, and fragmented and inequitable care; while a multi-faceted approach is desired to ease anxiety and uncertainty, minimise delays, and optimise recovery and participation during transition. Conclusions: Our findings highlight that regardless of the discharge route, and even with formal support systems in place, PWS and families encounter challenges during the transition period. The experiences of support at this transition and the preferences of PWS and CGs during this important period highlights the need for better care co-ordination, early and ongoing emotional support, and equitable access to tailored services and support. Experiences are likely to be improved by implementing a partnership approach with improved collaboration, including joint goal-setting, between PWS, CGs, healthcare professionals and support organisations. [ABSTRACT FROM AUTHOR]

Background: Ectopic cervical thymoma (ECT) is an extremely rare tumor, especially in association with myasthenia gravis (MG). Case presentation: We report a case of myasthenia gravis with an ectopic thymoma in the neck, whose myasthenic symptoms significantly improved after complete removal of the mass. A 55-year-old woman with generalized myasthenia gravis (MG) experienced worsening neuromuscular weakness after abruptly discontinuing pyridostigmine. Testing revealed acetylcholine receptor-antibody (AChR-Ab) positivity and a cervical mass initially thought to be thyroid or parathyroid was identified as a thymoma, type A. Post-surgery and radiation therapy, her myasthenic symptoms improved significantly with less prednisone and pyridostigmine requirements over time and no need for additional immunotherapies. Conclusions: Diagnosing ECTs is challenging due to rarity, atypical locations, and inconclusive fine needle aspiration cytology (FNAC) results, often misinterpreted as thyroid or parathyroid lesions. As proper management of patients with MG, including thymectomy, offers favorable clinical outcomes such as significant improvement in myasthenic complaints and reduced immunosuppressive medication requirements, clinicians should be vigilant of the ectopic locations of thymomas to ensure timely diagnosis and intervention. [ABSTRACT FROM AUTHOR]