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Rare disease care in Europe – Gaping unmet needs 欧洲罕见病护理--尚未满足的巨大需求

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100018

Philippe Pakter

引用次数: 0

Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation 视网膜血管病变伴脑白质脑病与TREX1基因突变：一种新基因突变的罕见病例

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100032

Michela Giacoma Pin , Lucia Corrado , Gionata Strigaro , Andrea Bianco , Mattia Bellan , Claudio Musetti , Letizia Mazzini , Roberto Cantello , Sandra D’Alfonso , Domizia Vecchio

{"title":"Retinal vasculopathy with cerebral leukoencephalopathy with TREX1 mutation: a rare entity with a new mutation","authors":"Michela Giacoma Pin , Lucia Corrado , Gionata Strigaro , Andrea Bianco , Mattia Bellan , Claudio Musetti , Letizia Mazzini , Roberto Cantello , Sandra D’Alfonso , Domizia Vecchio","doi":"10.1016/j.rare.2024.100032","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100032","url":null,"abstract":"<div><p>Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations (RVCL-S) is a rare autosomal dominant vasculopathy caused by heterozygous C-terminal truncating mutations in three-prime repair exonuclease (<em>TREX1</em>) gene. The clinical spectrum includes vascular retinopathy, focal brain dysfunctions and other systemic manifestations, including Raynaud phenomenon, anemia with gastrointestinal bleeding, hypothyroidism and liver and kidney diseases. We report the case of a 46-year-old Italian man with RVCL-S, initially misdiagnosed as glioma or cerebral lymphoma. The patient presented with a 5-day history of mild ideo-motor slowdown, subacute mild left hemiparesis and dysarthric speech. Brain magnetic resonance imaging (MRI) showed a right temporo-insular large lesion with surrounding edema and inhomogeneous enhancement. One month later he presented focal motor seizures to his left side with subsequent generalization. He repeated a brain MRI showing a dimensional increase of the lesion (restricted at diffusion weighted imaging and enhanced peripherally). Medical history included microvascular liver disease, microvascular kidney disease, anemia, and scleroderma with Raynaud’s phenomenon. On oral steroids, a third brain MRI demonstrated volumetric reduction of the lesion with small nodular enhancement. Considering the pseudotumoral brain onset and the multisystemic involvement, RVCL-S was suspected and genetic analysis confirmed the presence of the new heterozygous mutation p.S267Qfs*57 in the C-terminal of the <em>TREX1</em> gene.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100032"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000152/pdfft?md5=6af9ff278294d83544c534f50b6d86b3&pid=1-s2.0-S2950008724000152-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140879899","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Recurrent GIST and pulmonary chondroid hamartoma: Case report of incomplete Carney triad 复发性 GIST 和肺软骨火腿肠瘤：不完全卡尼三联症病例报告

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100038

B.P.C. Hoppe , A.J. Breugom , H. Dik

引用次数: 0

The power of diversity! 多样性的力量

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100024

Helene Cederroth , Barbara Cellini , Claudia Gonzaga-Jauregui , Jinming Han , Muhammad Umair , Elizabeth Palmer , Wendy van Zelst-Stams

引用次数: 0

Addressing challenges in diagnosis and management of rare disease through interprofessional education 通过跨专业教育应对罕见病诊断和管理方面的挑战

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100044

Ron Helderman , Carolyn M. Macica , Adam Weinstein , Richard Feinn , Maya Doyle

{"title":"Addressing challenges in diagnosis and management of rare disease through interprofessional education","authors":"Ron Helderman , Carolyn M. Macica , Adam Weinstein , Richard Feinn , Maya Doyle","doi":"10.1016/j.rare.2024.100044","DOIUrl":"10.1016/j.rare.2024.100044","url":null,"abstract":"<div><p>Rare diseases represent a significant public health challenge due to their complexity and lack of resources. One way to improve care for patients with rare disease is to educate healthcare professionals on the diverse and unique needs of patients with rare disorders. An interprofessional education (IPE) event was created for healthcare students based on the Interprofessional Education Collaborative’s ‘IPE Core Competencies', mainly targeting two specific competencies: (1) interprofessional communication and (2) teams and teamwork. The IPE event included direct instruction, case-based learning, and narrative medicine components using the rare disease nephropathic cystinosis as a model of a rare complex disorder. Pre- and post-event survey data were collected to assess the participants' knowledge acquisition and perceived confidence in caring for patients with a rare disease as part of an interprofessional healthcare team and included open-ended questions regarding qualities of an interprofessional team member, and key takeaways from the event. Enrollment included 163 graduate-level healthcare students from nine different disciplines. The survey data showed improved understanding of the importance of rare disease research (<em>p <</em> 0.001), ability to identify supportive resources for patients (<em>p <</em> 0.001), confidence in being part of an interprofessional team caring for a patient with rare disease (<em>p <</em> 0.001) and value of education about rare disease (<em>p</em> = 0.009). When asked to describe features of effective interprofessional teams, common traits included strong communication skills, empathy, compassion, understanding, collaboration, and respect. This work demonstrates that utilizing an interprofessional model in educating health professional students about rare diseases successfully enhanced learners’ confidence in their ability to be part of an interprofessional team caring for patients and families impacted by rare disease, and given the total prevalence of rare diseases, may have a significant impact on healthcare as a whole.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100044"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000279/pdfft?md5=1d84a12ec1c393d97e841dacc554f6e6&pid=1-s2.0-S2950008724000279-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142169412","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Congenital three-bone forearm – A rare disorder 先天性三骨前臂 - 一种罕见疾病

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100020

J. Terrence Jose Jerome

引用次数: 0

The cross-sector model of care: A work design perspective 跨部门护理模式：工作设计视角

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100049

Annika Mertens , Madison Kho , Sharon K. Parker , Gareth Baynam , Sue Baker , Kaila Stevens

{"title":"The cross-sector model of care: A work design perspective","authors":"Annika Mertens , Madison Kho , Sharon K. Parker , Gareth Baynam , Sue Baker , Kaila Stevens","doi":"10.1016/j.rare.2024.100049","DOIUrl":"10.1016/j.rare.2024.100049","url":null,"abstract":"<div><div>Diagnosing and coordinating care for children with rare diseases is challenging. Whilst the care coordination literature and practice has focused on coordination within the healthcare system, less attention has been given to the coordination of the children’s and families’ lives across sectors including health, education, disability care, financial welfare and social support. The Cross-sector Model of Care at the Rare Care Centre, Perth Children’s Hospital, Western Australia, is a novel approach towards a holistic care coordination for patients with rare and undiagnosed diseases and their families across these multiple agencies. With the aim to evaluate the work structures of the Cross-sector Model of Care, we apply the SMART Model of Work Design and conducted 18 interviews with all team members at the Rare Care Centre. The results from the qualitative analysis show that work at the Rare Care Centre seems to be well designed, providing team members with a work structure that includes stimulation, job mastery, autonomy, social support and tolerable work demands. We also identified enablers (i.e., upskilling between experts, flexible role adjustment, autonomy, weekly meetings, maximum number of patients seen) and challenges (i.e., unclear role expectations, high individual responsibility, growing external demand) of the existing work design. By identifying key factors that determine successful holistic care coordination, this research can assist practitioners aiming to create care coordination teams.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100049"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142654383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome 在 COVID-19 大流行期间与罕见遗传病共存：对患有 Li-Fraumeni 综合征的青少年的定性研究

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100034

Allison Werner-Lin , Payal P. Khincha , Ashley S. Thompson , Camella Rising , Alix Sleight , Catherine Wilsnack , Patrick Boyd , Alexandra Feldman , Rowan Forbes Shepherd , Sharon A. Savage

{"title":"Living with rare genetic disease during the COVID-19 pandemic: A qualitative study of adolescents and young adults with Li-Fraumeni syndrome","authors":"Allison Werner-Lin , Payal P. Khincha , Ashley S. Thompson , Camella Rising , Alix Sleight , Catherine Wilsnack , Patrick Boyd , Alexandra Feldman , Rowan Forbes Shepherd , Sharon A. Savage","doi":"10.1016/j.rare.2024.100034","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100034","url":null,"abstract":"<div><h3>Background</h3><p>The COVID-19 pandemic caused large-scale shifts in healthcare access and delivery that impacted the availability of routine care, such as cancer screening. Vulnerable populations, including those with rare cancer-prone genetic disease, faced considerable difficulties in managing their cancer risk. Studies characterizing the specific impacts of the pandemic on physical, mental, and emotional well-being for individuals with rare cancer-prone syndromes are emerging. This study used a patient-centered perspective to characterize how young adults with Li-Fraumeni syndrome (LFS), an inherited cancer predisposition syndrome with nearly 100 % lifetime risk of cancer, managed their physical and mental health during the first year of the COVID-19 pandemic.</p></div><div><h3>Methods</h3><p>This exploratory, qualitative cohort study was conducted between March and July of 2021 as part of the National Cancer Institute's Li-Fraumeni Study. Thirty adolescents and young adults (22 female, 8 male, median age 31 years, range 18–41) with a confirmed pathogenic <em>TP53</em> variant completed a semi-structured qualitative interview. An interdisciplinary team conducted Thematic Content Analysis on verbatim transcribed data.</p></div><div><h3>Results</h3><p>Most participants (22/30, 77 %) completed cancer screening during the first year of the pandemic, with a median perceived delay of 5 months (range 2–12 months) and with financial COVID-19-related burden (55 %). While participants reported satisfaction with telehealth-based services, they also reported challenges establishing new clinical relationships and a clear preference for in-person clinical care. Most participants reported negative or mixed impacts of COVID-19 on mental health (21/30, 70 %). Social network changes were reported by 22 (73 %), and almost all participants experienced negative or mixed emotions such as loss, grief, and isolation, to adaptations necessitated by COVID-19 in their social structure.</p></div><div><h3>Conclusions</h3><p>The COVID-19 pandemic had detrimental effects on the physical, emotional, and social health in young adults with Li-Fraumeni, including disruptions in care. These data highlight the need for integrative strategies to be in place prior to future pandemics to prioritize and support vulnerable populations, such as those with rare disease, and to manage unforeseen large-scale shifts in healthcare access and social structure.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100034"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000176/pdfft?md5=7f01362a794bd82c9af5daf628554d8d&pid=1-s2.0-S2950008724000176-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141240988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community 为罕见病社区提供支持和自我宣传工具的独特合作模式

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100026

Juliette M. Harris , Jacqui Fish , Jared Griffin , Gemma Hasnaoui , Clare Stacey , Neeti Ghali , Fleur S. van Dijk

{"title":"A unique collaborative model providing supportive and self-advocacy tools to the rare disease community","authors":"Juliette M. Harris , Jacqui Fish , Jared Griffin , Gemma Hasnaoui , Clare Stacey , Neeti Ghali , Fleur S. van Dijk","doi":"10.1016/j.rare.2024.100026","DOIUrl":"https://doi.org/10.1016/j.rare.2024.100026","url":null,"abstract":"<div><p>The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS. The service consists of a team of medical specialists and genetic counsellors. The EDS service has strong ties with national and international EDS charities, and together they participate in working and strategy groups alongside patients and carers. Acquired funding for research means that the service contributes to international knowledge regarding diagnosis and management of rare, monogenic EDS types. As a result of being a highly specialised service, there are multiple points of contact with patients, providing frequent opportunities for feedback. Patient data, surveys and collaborative working have enabled the development not only of extensive information resources and self-advocacy tools for patients, but also guidelines for health care professionals on the best ways to support their rare disease patients. The main challenges faced by patients affected by rare disease and the importance of self-advocacy are discussed, with the highly specialised National EDS service and the patients seen in this service as an example. The recommendations from this unique collaborative model include eight specific domains of self-advocacy: increasing knowledge of rare disease, taking care of mental well-being, taking care of physical well-being including routine care, the development of good working relationships between patients and health care professionals, information accessibility, emergency preparedness, taking part in education and outreach, and involvement in research and feedback opportunities. The service aims to be an example of patient-centred innovation and progress, providing a patient-focused supportive model that can be adapted by the rare disease community and other health care professionals.</p></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"2 ","pages":"Article 100026"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2950008724000097/pdfft?md5=c7a206d49d76eac84ec7334057e321cf&pid=1-s2.0-S2950008724000097-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140344687","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A rare responsibility; Straddling the roles of both the student and the sick 罕见的责任；同时扮演学生和病人的角色

Rare Pub Date : 2024-01-01 DOI: 10.1016/j.rare.2024.100050

Zainab Ahmed Alani

引用次数: 0