bims-curels Biomed News
on Leigh syndrome
Issue of 2023‒11‒26
seven papers selected by
Cure Mito Foundation
  1. An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.
  2. Exploring the outcomes of research engagement using the observation method in an online setting.
  3. Advancing orphan drug development for rare diseases.
  4. Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis.
  5. Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research.
  6. Mitochondrial DNA and Inflammation in Alzheimer's Disease.
  7. Medical student attitudes to patient involvement in healthcare decision-making and research.
  1. J Particip Med. 2023 Nov 23. 15 e46607
    An Ethics Action Plan for Rare Disease Care: Participatory Action Research Approach.
    Ariane Quintal, Isabelle Carreau, Annie-Danielle Grenier, Caroline Hébert, Christine Yergeau, Yves Berthiaume, Eric Racine.
      BACKGROUND: Owing to their low prevalence, rare diseases are poorly addressed in the scientific literature and clinical practice guidelines. Thus, health care workers are inadequately equipped to provide timely diagnoses, appropriate treatment, and support for these poorly understood conditions. These clinical tribulations are experienced as moral challenges by patients, jeopardizing their life trajectories, dreams, and aspirations.OBJECTIVE: This paper presents an ethical action plan for rare disease care and the process underlying its development.
    METHODS: This action plan was designed through an ethical inquiry conducted by the Ethics and Rare Diseases Working Group, which included 3 patient partners, 2 clinician researchers, and 1 representative from Québec's rare disease association.
    RESULTS: The plan is structured into 4 components. Component A presents the key moral challenges encountered by patients, which are the lack of knowledge on rare diseases among health care workers, the problematic attitudes that it sometimes elicits, and the distress and powerlessness experienced by patients. Component B emphasizes a vision for patient partnership in rare disease care characterized by open-mindedness, empathy, respect, and support of patient autonomy from health care workers. Component C outlines 2 courses of action prompted by this vision: raising awareness among health care workers and empowering patients to better navigate their care. Component D compares several interventions that could help integrate these 2 courses of action in rare disease care.
    CONCLUSIONS: Overall, this action plan represents a toolbox that provides a review of multiple possible interventions for policy makers, hospital managers, practitioners, researchers, and patient associations to critically reflect on key moral challenges experienced by patients with rare diseases and ways to mitigate them. This paper also prompts reflection on the values underlying rare disease care, patient experiences, and health care workers' beliefs and behaviors. Health care workers and patients were the primary beneficiaries of this action plan.
    Keywords:  attitude of health personnel; bioethics; clinical; community-based participatory research; delivery of health care; education; empowerment; ethics; medical; patient education as topic; patient participation; patient partnership; rare diseases
    DOI:  https://doi.org/10.2196/46607
  2. BMJ Open. 2023 11 21. 13(11): e073953
    Exploring the outcomes of research engagement using the observation method in an online setting.
    Deborah A Marshall, Nitya Suryaprakash, Danielle C Lavallee, Karis L Barker, Gail Mackean, Sandra Zelinsky, Tamara L McCarron, Maria J Santana, Paul Moayyedi, Stirling Bryan.
      OBJECTIVE: The objective of this study was to explore the outcomes of research engagement (patient engagement, PE) in the context of qualitative research.DESIGN: We observed engagement in two groups comprised of patients, clinicians and researchers tasked with conducting a qualitative preference exploration project in inflammatory bowel disease. One group was led by a patient research partner (PLG, partner led group) and the other by an academic researcher (RLG, researcher led group). A semistructured guide and a set of critical outcomes of research engagement were used as a framework to ground our analysis.
    SETTING: The study was conducted online.
    PARTICIPANTS: Patient research partners (n=5), researchers (n=5) and clinicians (n=4) participated in this study.
    MAIN OUTCOME MEASURES: Transcripts of meetings, descriptive and reflective observation data of engagement during meetings and email correspondence between group members were analysed to identify the outcomes of PE.
    RESULTS: Both projects were patient-centred, collaborative, meaningful, rigorous, adaptable, ethical, legitimate, understandable, feasible, timely and sustainable. Patient research partners (PRPs) in both groups wore dual hats as patients and researchers and influenced project decisions wearing both hats. They took on advisory and operational roles. Collaboration seemed easier in the PLG than in the RLG. The RLG PRPs spent more time than their counterparts in the PLG sharing their experience with biologics and helping their group identify a meaningful project question. A formal literature review informed the design, project materials and analysis in the RLG, while the formal review informed the project materials and analysis in the PLG. A PRP in the RLG and the PLG lead leveraged personal connections to facilitate recruitment. The outcomes of both projects were meaningful to all members of the groups.
    CONCLUSIONS: Our findings show that engagement of PRPs in research has a positive influence on the project design and delivery in the context of qualitative research in both the patient-led and researcher-led group.
    Keywords:  Adult gastroenterology; GASTROENTEROLOGY; HEALTH ECONOMICS; Inflammatory bowel disease; Patient Participation; QUALITATIVE RESEARCH
    DOI:  https://doi.org/10.1136/bmjopen-2023-073953
  3. Clin Exp Pediatr. 2023 Nov 17.
    Advancing orphan drug development for rare diseases.
    Jung Min Ko.
      
    DOI:  https://doi.org/10.3345/cep.2023.01109
  4. Orphanet J Rare Dis. 2023 Nov 23. 18(1): 363
    Prioritization of research engaged with rare disease stakeholders: a systematic review and thematic analysis.
    Soho Yoon, Minjee Lee, Hoi-In Jung, M Mahmud Khan, So-Yoon Kim, Hannah Kim, Sophia Wasti.
      BACKGROUND: Although rare diseases (RD) are increasingly becoming a priority for healthcare activities and services around the world, developing research policy for investigating RD in public settings proves challenging due to the limited nature of existing evidence. Rare conditions require the involvement of a wide range of stakeholders in order to promote general awareness and garner political support. Consequently, it is critically important to identify trends in the various types of research focusing on rare disease stakeholders, including the specific topics or issues to be included in surveys and studies focused on RD stakeholders. This systematic review and thematic analysis analyses the existing literature based on RD surveys, including the stakeholders involved, and proposes potential research priorities and initiatives for policy-making related to RD.METHODS: Articles were downloaded and analyzed from across five electronic databases (PubMed, EMBASE, Cochrane Central, Web of Science, and CINHAL) and 115 studies were included.
    RESULTS: Across 115 studies, the main research participants were patients and/or caregivers (n = 77, 67.0%), health professionals (n = 18, 15.7%), and the public (n = 7, 6.1%). The studies discussed RDs in general (n = 46, 40.0%), endocrine, nutritional, and metabolic diseases (n = 20, 17.4%) and other RDs. Experiences with RD were examined by more than half of the selected studies (n = 74, 64.3%), followed by the opinions of stakeholders (n = 24, 20.9%). Most of the studies used surveys in order to collect relevant data (n = 114, 99.1%). Additionally, the majority of the studies were conducted in high-income countries (n = 92, 80.0%) and rarely in middle and low-income countries (n = 12, 13.8%).
    CONCLUSION: Stakeholder research on RD reveals that there are significant instances of unmet needs and various challenges faced by the medical system in dealing with RDs. Furthermore, public awareness and support is critical to ensuring political feasibility of increasing national-level investments for RDs and development of medical products and treatment.
    Keywords:  Caregivers; Healthcare professionals; Patients; Policy; Political support; Public funding; Rare diseases; Stakeholders; Survey
    DOI:  https://doi.org/10.1186/s13023-023-02892-2
  5. Child Neuropsychol. 2023 Nov 20. 1-18
    Neuropsychological assessment in rare pediatric neurogenetic disorders: considerations for cross-cultural clinical research.
    Veronica Bordes Edgar, Karen A Dorsman, Daniel Horton, Souad Messahel, Beatriz MacDonald.
      Neuropsychological assessment in rare neurodevelopmental disorders has provided clinicians and researchers with a more comprehensive view of natural history as well as opportunities for additional endpoints in treatment trials. While challenges to protocol development have been addressed in the literature, cultural considerations have been overly broad resulting in limited utility when including mixed international samples. Using experiences over the past five years with the development of ten different protocols for neurogenetic rare diseases, this paper presents further considerations for protocol development that are culturally sensitive to international samples. Recommendations are offered across areas including participants from multiple countries; cognitive, sensory and motor impairments; psychometrics; and assessment logistics. A neuropsychological assessment selection checklist that guides researchers and clinicians through considerations and a standard operating procedure that provides guidance on thinking through the assessment process are offered.
    Keywords:  Neuropsychology; assessment; cross-cultural; genetic disorders; rare disorders
    DOI:  https://doi.org/10.1080/09297049.2023.2283939
  6. Curr Issues Mol Biol. 2023 Oct 25. 45(11): 8586-8606
    Mitochondrial DNA and Inflammation in Alzheimer's Disease.
    Giacoma Galizzi, Marta Di Carlo.
      Mitochondrial dysfunction and neuroinflammation are implicated in the pathogenesis of most neurodegenerative diseases, such as Alzheimer's disease (AD). In fact, although a growing number of studies show crosstalk between these two processes, there remain numerous gaps in our knowledge of the mechanisms involved, which requires further clarification. On the one hand, mitochondrial dysfunction may lead to the release of mitochondrial damage-associated molecular patterns (mtDAMPs) which are recognized by microglial immune receptors and contribute to neuroinflammation progression. On the other hand, inflammatory molecules released by glial cells can influence and regulate mitochondrial function. A deeper understanding of these mechanisms may help identify biomarkers and molecular targets useful for the treatment of neurodegenerative diseases. This review of works published in recent years is focused on the description of the mitochondrial contribution to neuroinflammation and neurodegeneration, with particular attention to mitochondrial DNA (mtDNA) and AD.
    Keywords:  Alzheimer’s disease; DAMPs; glia; microglia; mitochondria; mitochondrial dysfunction; mtDNA; neurodegeneration; neuroinflammation
    DOI:  https://doi.org/10.3390/cimb45110540
  7. J Med Ethics. 2023 Nov 21. pii: jme-2023-109451. [Epub ahead of print]
    Medical student attitudes to patient involvement in healthcare decision-making and research.
    Jennifer O'Neill, Bronwyn Docherty Stewart, Anna Ng, Yamini Roy, Liena Yousif, Kirsty R McIntyre.
      OBJECTIVE: Patient involvement is used to describe the inclusion of patients as active participants in healthcare decision-making and research. This study aimed to investigate incoming year 1 medical (MBChB) students' attitudes and opinions regarding patient involvement in this context.METHODS: We established a staff-student partnership to formulate the design of an online research survey, which included Likert scale questions and three short vignette scenarios designed to probe student attitudes towards patient involvement linked to existing legal precedent. Incoming year 1 medical students (n=333) were invited to participate in the survey before formal teaching commenced.
    RESULTS: Survey data (49 participants) indicate that students were broadly familiar with, and supportive of, patient involvement in medical treatment. There was least support for patient involvement in conducting (23.9%), contributing to (37.0%) or communicating research (32.6%), whereas there was unanimous support for patients choosing treatment from a selection of options (100%).
    CONCLUSION: Incoming members of the medical profession demonstrate awareness of the need to actively involve patients in healthcare decision-making but are unfamiliar with the utility and value of such involvement in research. Further empirical studies are required to examine attitudes to patient involvement in healthcare.
    Keywords:  Decision Making; Ethics- Research
    DOI:  https://doi.org/10.1136/jme-2023-109451
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