This study describes the experiences with the stigma attached to Machado-Joseph disease (MJD) in São Miguel Island, the Azores (Portugal). We draw on semi-structured interviews with persons with MJD, family members, healthcare professionals, and direct care providers recruited through the local patient\'s association (n = 28). Qualitative thematic analysis revealed three main themes: (i) the intense stigma associated with MJD in the past; (ii) the current tendency towards increased openness; and (iii) increased availability of information about MJD and support. The findings suggest that stigmatization was more frequent and intense in the past. Still, there is currently a decrease in the intensity of perceived stigma, accompanied by an increasing awareness about MJD within the community. The local patient\'s association is noted for playing a pivotal role in raising awareness about MJD in the community and fostering the confidence of individuals with MJD and their families to engage socially, which may help to reduce or mitigate feelings of stigma. This raises questions about whether the diminished stigma towards MJD in São Miguel results from heightened awareness about the condition, a decrease in the social acceptability of stigma, or a gradual internalization and normalization of stigma among individuals with MJD as a coping mechanism.

Diet is the only treatment for celiac disease (CeD), and good adherence to a gluten-free diet (GFD) is the only way to ensure complete remission and to prevent complications. Limited education about the disease and a GFD is an attributing factor to inadequate adherence. Thus, our aim was to assess the current knowledge about a GFD and the clinical monitoring of adherence to the diet among CeD people and HCPs. Specific questionnaires were designed and distributed to assess the knowledge of CeD people (Q1 questionnaire) (n = 2437) and to analyze the follow-up of the disease from the perspective of patients (Q2 questionnaire) (n = 1294) and HCPs (Q3 questionnaire) (n = 346). Two-thirds of HCPs specialized in pediatric care, while one-third did so in adult care. In CeD people, general questions regarding food classification and cross-contamination are well understood. When patients have doubts, 51.4% reported using the Internet and social networks. Thus, it is crucial that resources like social media are reliable and provide valuable information. Q3 revealed the lack of time to follow up the diet after diagnosis (48% of HCPs allocate < 15 min), the interest in further training, and the need for a professional specialized in diets within the healthcare system. In conclusion, it is essential to enhance nutritional education to increase awareness of a GFD.

BACKGROUND: Participatory research has gained traction as an approach to unlock perspectives when creating scientific knowledge and to facilitate societal changes. By conducting research with people, participatory research strives to engage individuals\' perspectives in designing, conducting, and disseminating the research. Nevertheless, few studies have unpacked how understandings of the studied phenomenon are shaped among diverse research partners and, concurrently, how different perspectives are combined. Nested within an overall participatory mixed methods study on aging with multiple sclerosis (MS), this qualitative study explores how understandings of aging with MS are shaped in encounters between university researchers, older adults with MS, and employees in a patient association.
METHODS: The study was collaboratively conducted in Denmark by three research partners: a group of older adults with MS, employees in a patient association, and university researchers. Data on how different understandings of aging with MS were represented and shaped during the three-year research process was generated through field notes, meeting minutes, focus group interviews, and individual interviews. The collected data was analyzed through a thematic network analysis.
RESULTS: The study demonstrates how different understandings of aging with MS were represented among the research partners when the research was initiated. These understandings were shaped prior to -and, therefore, outside-the research setting, drawing from the research participants\' lived experiences, professional backgrounds, and organizational cultures or situated in larger societal narratives. Through a process centered on reflexivity among the engaged research partners, the understandings of what it means to age with MS was shaped and re-shaped and eventually merged into a more dynamic understanding of later life with MS where different perspectives could co-exist.
CONCLUSIONS: The findings demonstrate that research partners, including older adults with MS and employees from a patient association, brought diverse understandings to the study. Reflexive practices enabled these perspectives to co-exist, enhancing engagement and transparency, and fostering a dynamic understanding of later life with MS. This highlights the value of reflexivity in evolving complex understandings within participatory research.
In recent years, participatory research has been increasingly utilized in various research fields (e.g., aging research) with the ambition of engaging a diverse group of research partners to leverage their perspectives and contributions. This approach aims to form a more nuanced understanding of the studied phenomenon and to identify insights useful for practice However, working in diverse research teams have also been found to be complex, and it is poorly understood how the perceptions of the different research partners shape the final research product. Based on a study conducted in collaboration with employees in a patient association, older adults with multiple sclerosis (MS), and university researchers, the present study aims to unfold how perspectives of aging with MS are represented and shaped doing a participatory research period. It occurred over a three-year period where data was collected through field notes, meeting minutes, focus group interviews, and individual interviews. The findings highlight how research partners represent different understandings of the studied phenomenon, which is embedded in their social, cultural, and professional background and which potentially influence their expectations of and contributions to the research process. Furthermore, the study demonstrates how engaging in a critical dialogue about expectations and understanding of the studied phenomenon can provide insight into which perceptions are represented, making the participatory research process more transparent. Lastly, the study conveys how such critical dialogue facilitates understandings and perspectives evolving during the research process into a potentially more dynamic understanding of the studied phenomenon.

One of the main clinical features of Sjögren\'s Syndrome is oral dryness, which is associated with an increased risk of oral diseases and a lower oral life quality. Dentists have a key role to play in the Sjögren\'s Syndrome diagnosis and specific management. In parallel, many patients rely on patient associations, which offer opportunities for members to seek information about their disease and share their experiences. We aimed to evaluate patients experience with dry mouth and the importance of dentists in Sjögren\'s Syndrome diagnosis and its management.
We carried out a cross-sectional survey in 2020 based on a questionnaire drafted in collaboration with clinicians specializing in Sjögren\'s Syndrome and patient members of a patient association. The survey consisted of 27 questions divided into the six sections: the patient\'s profile, their experience with dry mouth and treatments used to manage, characteristics of experienced oral-health problems, effects of dry mouth and its consequences on the quality of life, evaluation of the dentist role in the screening of Sjögren\'s Syndrome, and its management by the dentist. Recruitment was carried out via the patient association\'s newsletter, website, and social networks. Sjögren\'s diagnosis was self-reported.
One thousand four hundred fifty-eight patients fully responded to the survey. Most respondents were women over 50 and were mainly concerned with primary Sjögren\'s Syndrome. Overall, 86.97% of respondents reported experiencing frequent or constant dry mouth and 69.01% declared having had oral problems (candidiasis, oral pain, loss or alteration of taste, bad breath, gastro-esophageal reflux). We found a positive correlation between the frequency of dry mouth and each of these disorders and between the frequency of dry mouth and alterations in life quality dimensions. Finally, 74.9% of patients did not report having dry mouth to their dentist prior to being diagnosed with Sjögren\'s Syndrome and 58% had not been informed about the oral risks associated with it by their dentist and sought information themselves or from their physician.
We confirm the significant consequences of dry mouth on oral quality of life, as well as its association with oral health problems. Sjögren\'s Syndrome screening by dentists should be increased, as well as prevention of the associated oral health risks.

Patient associations bring many benefits to people suffering from obesity. What\'s more, through their actions, these associations contribute to the recognition of obesity as a pathology.

Pulmonary hypertension (PH) is a life-threatening, debilitating disease caused by increased blood pressure in the pulmonary arteries. As patients living in the United States, we have unique insights into the journey from diagnosis and treatment within the US healthcare system and the significant impact that PH has on our quality of life. While there have recently been advances in PH management, there are several areas of PH care which we feel should be reassessed and improved. Commonly, diagnosis is lengthy and convoluted due to the rarity of the disease and limited knowledge of PH in primary care. There are also barriers to obtaining the right treatment and we feel that a more holistic approach to care is needed. Mental health is commonly overlooked and should be an integral part of patient care, as should elements such as nutritional advice, cardiopulmonary rehabilitation, and sexual health. PH patient associations play a key role in providing social, educational, and financial support to patients and caregivers alongside PH research and advocacy. As patients, we feel that we need to advocate for correct diagnosis, timely referral, and optimal treatment, in addition to overcoming the financial and/or administrative hurdles to obtain these. We propose several future goals to help empower patients to play an active, central role in their care and to improve all aspects of PH management. We advocate for further use of the patient voice in research and clinical development programs, including the use of patient-reported outcomes that have been developed with patient input.

Patient organizations play an ever-growing role in modern societies by providing organized resources for patients and care partners. Importantly, patient organizations enable patients to define and share their needs and views. In Parkinson\'s disease (PD), patient organizations play significant roles in different countries. However, there is limited support and resources tailored for people with early onset Parkinson\'s disease (EOPD). These individuals face unique social, professional, and personal challenges that are often not accounted for by general PD organizations, which play very important roles for a significant proportion of individuals with PD. In Portugal, this was the situation until 2022, when Young Parkies Portugal (YPP) was founded to allow people with EOPD and various stakeholders to join forces to cover their specific needs. In this manuscript, we aim to share our experience in building an association for people with EOPD, reflecting on the reasons for this need, the activities developed thus far, challenges in implementation, and future directions. In summary, we believe that nonprofit organizations like YPP play an essential role in shaping the care and support of people with PD care and should be considered key partners of care alongside the larger multidisciplinary team. We are confident that sharing our experience can inspire and guide the implementation of similar initiatives in other countries.

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Rare epilepsy centers, also called reference centers in France, have the mission to coordinate care for rare diseases, improve knowledge, and conduct research on rare diseases. Dissemination of knowledge is conducted in collaboration with patient associations. In just a few years, the Internet and social media have become the main source for news and knowledge. We conducted a survey about the use of social media and the expectations of patient associations from a rare epilepsy center. From the 29 associations on our website, 18 (62%) answered the survey, representing about 9000 members. All of the patient associations use social media. Facebook is used by all of them, and most of them also used additional social media channels. 13/18 (72%) associations found that it was easy to get in touch with our center and almost all partner associations were satisfied with the information published on our website (17/18, 94%). Eight patient associations (8/15, 53%) expected more information from us regarding scientific news (10/13) and clinical trials (8/13). Despite the existence of an active website and a monthly newsletter, the family associations interacting with our rare epilepsy center still want to collaborate even more with us. The use of social media by the rare epilepsy centers might help to fill the gap of the knowledge dissemination.

In 2020, the number of new cancer cases was estimated at 20 490 862 worldwide up from 18.1 million in 2018 and 14.1 million in 2012. Since the 2000s, cancer treatments have significantly improved, allowing either a cure or control of the disease. Patients share their experience of the disease and use supportive care solutions through involvement in patient associations and online forums. All the associations were built on the principle of \"peer support,\" which is based on mutual aid between people who suffer or have suffered from the same somatic or psychological illness or had the same life experience. This experiential knowledge can be explored to understand the role of peers and associations in the appropriation of their cancer.
A qualitative phenomenological study was undertaken through semi-structured interviews with 12 participants. Interviews were audio-recorded, transcribed verbatim, then analyzed by means of triangulation up to the point of theoretical saturation by a semio-pragmatic method.
Four categories emerged: (1) \"Transforms a painful experience into a positive one. It mobilizes the human values of sharing, love, and humility, which facilitates resilience\"; (2) \"The characteristics of the association, a non-medical place between people sharing a common destiny, resonates with patients\' needs and improves their well-being\"; (3) \"The association transforms the patients\' experiences by facilitating engagement that leads to a patient-expert (empowerment)\"; and (4) \"Understanding what is happening to them is soothing, reassuring, because patients\' concerns need to be heard and their care understood\".
This study highlights patient associations can serve as the mediator of NPI and facilate the empowerment of breast cancer patients.
Educating health professionals in initial and continuing education about non-pharmacological interventions will be a major issue. Teaching the patient-centred approach to health professionals is one of the priorities in initial and continuing medical education.