Rare最新文献

{"title":"Oral presentations of the 13th Undiagnosed Diseases Network International Conference 5-7 September 2024 – Seoul, Korea","authors":"","doi":"10.1016/j.rare.2025.100082","DOIUrl":"10.1016/j.rare.2025.100082","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100082"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"“True Faces of Rare”: Preferences for authentic imagery in disorder-specific materials by people living with rare diseases and their communities","authors":"Laura Smith van Carroll ,&nbsp;Pavel Krepelka ,&nbsp;Kirsty Hoyle ,&nbsp;Kamran Iqbal ,&nbsp;Tom Kenny","doi":"10.1016/j.rare.2025.100070","DOIUrl":"10.1016/j.rare.2025.100070","url":null,"abstract":"<div><div>This study explores the preferences of people living with rare diseases and their communities regarding the use of authentic imagery in disorder-specific materials. Through a digital survey of 50 respondents, we examined the perceived importance of using images of people affected by a rare disorder in educational and awareness materials about their specific disorder. Results reveal a strong preference for authentic imagery, with most respondents rating this as highly important. People living with rare diseases expressed that seeing “real faces” of those with the condition fosters a sense of connection, combats isolation, and raises public awareness through greater exposure. Conversely, some respondents noted the risk of stereotyping based on appearance, indicating the need for sensitive, accurate portrayal. Our findings suggest that authentic imagery can improve engagement and create an emotional connection with materials, by those living with rare diseases and their communities. Furthermore, we provide actionable recommendations for developers of these materials including patient advocacy groups, research institutions and pharmaceutical companies.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100070"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143454707","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}

{"title":"Incidental findings in surveillence of paediatric Li Fraumeni patients – A single centre experience","authors":"Amy Alcock ,&nbsp;Elizabeth McVittie ,&nbsp;Zoe Nicholls ,&nbsp;Hector Conti ,&nbsp;Mark Davies ,&nbsp;Rhian Isaac ,&nbsp;Madeleine Adams ,&nbsp;on behalf of the All Wales Paediatric Cancer Predisposition Service","doi":"10.1016/j.rare.2025.100067","DOIUrl":"10.1016/j.rare.2025.100067","url":null,"abstract":"<div><div>Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome. Patients with LFS are at increased risk of early-onset tumours and undergo intensive radiological imaging surveillance to improve the early identification of malignancies. This report of a single-centre experience has shown that through surveillance imaging, especially whole-body MRIs, there is a high incidence of incidental findings. Incidental findings can result in anxiety and further evaluation often in the form of radiological imaging. It is important that patients and families are clearly counselled about incidental findings and findings of unknown clinical significance when undergoing imaging as part of a surveillance programme.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100067"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143419561","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}

{"title":"Comparative analysis of clinical outcomes and safety profile of trientine and d-penicillamine in the management of Wilson’s disease: A systematic review and meta-analysis","authors":"Hafiz Muhammad Ehsan Arshad,&nbsp;Muhammad Zain Raza,&nbsp;Musab Maqsood,&nbsp;Muhammad Omais,&nbsp;Muhammad Hashim Faisal,&nbsp;Ali Ahmad Nadeem","doi":"10.1016/j.rare.2025.100077","DOIUrl":"10.1016/j.rare.2025.100077","url":null,"abstract":"<div><h3>Introduction</h3><div>Wilson disease (WD) is a rare metabolic disorder of copper metabolism, requiring life-long therapy, usually with D-penicillamine or trientine. This review compares their clinical effectiveness and safety.</div></div><div><h3>Methodology</h3><div>PubMed, Cochrane, Clinicaltrials.gov and WHO-ICTRP, along with other sources were searched. The cohorts and RCTs reporting WD patients of any age or stage, receiving either trientine or D-penicillamine, were included. The Mantel-Haenszel method along with either a fixed- or random-effects model was used for analysing dichotomous outcomes.</div></div><div><h3>Results</h3><div>Twenty-six cohorts and one RCT were included. The odds of having (1) treatment failures were greater with trientine (OR = 4.09; 95 %-CI:2.34–7.15; p &lt; 0.00001); (2) adverse events were lesser with trientine (OR = 0.34; 95 %-CI:0.14–0.80; p = 0.01); (3) treatment discontinuation due to adverse events were lesser with trientine (OR = 0.30; 95 %-CI:0.21–0.43; p &lt; 0.00001); and (4) symptomatic worsening were not significantly different (OR = 1.68; 95 %-CI:0.88–3.20; p = 0.012). Subgroup analysis within symptomatic worsening showed non-significant difference for neurological worsening (OR = 1.33; 95 %-CI:0.44–3.97; p = 0.61) and greater odds with trientine for hepatic worsening (OR = 2.45; 95 %-CI:1.17–5.12; p = 0.02). Trientine had similar serum copper parameters and slightly lower urinary copper-excretion rates compared to D-penicillamine. Trientine affected coagulation profiles but with no clinical association, and both treatments had similar effects on pregnancy outcomes.</div></div><div><h3>Conclusion</h3><div>Trientine therapy had significantly lower incidences of adverse events and treatment discontinuations, but higher incidences of treatment failure and neurological worsening compared to D-penicillamine. However, the low quality and indirectness of the evidence may have lowered the validity of the results. Studies directly comparing the clinical outcomes of both treatments are needed to establish more robust evidence.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100077"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685522","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}

{"title":"Author’s response to “Correspondence on First year result and insights from the Mexican Rare Disease Patient Registry”","authors":"Claudia Gonzaga-Jauregui","doi":"10.1016/j.rare.2025.100075","DOIUrl":"10.1016/j.rare.2025.100075","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100075"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143578428","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}

{"title":"A rare case of primary vulvar Ewing sarcoma: Diagnostic and therapeutic challenges in an unusual presentation","authors":"Farah Boutaggount ,&nbsp;Soufiane Bigi ,&nbsp;Meryem Maskrout ,&nbsp;Rania Mokfi ,&nbsp;Chaymae Senoussi ,&nbsp;Soundous bennour ,&nbsp;Fatima safini ,&nbsp;Soukaina Wakrim ,&nbsp;Ghizlane Rais","doi":"10.1016/j.rare.2025.100109","DOIUrl":"10.1016/j.rare.2025.100109","url":null,"abstract":"<div><div>The Ewing sarcoma family includes various bone and soft tissue tumors showing different degrees of neuroectodermal characteristics. Ewing's sarcoma primarily impacts the bones, with occurrences outside of these structures being quite rare. Extraosseous Ewing's sarcoma (EES), found outside of bones, is exceptionally rare, posing distinct diagnostic and therapeutic challenges. We describe a 49-year-old patient diagnosed with Ewing's sarcoma of the vulva. The patient initially noticed a painful vulvar mass measuring 3 cm in diameter near the urinary meatus. Imaging revealed a 5 cm tumor on the bladder's posterior base, extending into the pelvic fat. Initially misdiagnosed as a poorly differentiated infiltrating carcinoma, subsequent immunohistochemical staining identified the mass as vulvar Ewing sarcoma/PNET, with cells showing focal PS100 positivity and CD99 membrane positivity. A pelvic MRI confirmed 6.7 × 3.4 cm mass invading vulvar tissue. Further imaging and a bone marrow biopsy excluded metastasis. The treatment regimen included seven rounds of intensive chemotherapy using the VAC/IE protocol, supplemented by local definitive radiotherapy after the third chemotherapy cycle, showing positive results. The treatment plan was to continue with adjuvant chemotherapy. After four months, no disease recurrence was observed. This report details an uncommon case of EES that developed in the vulva, exploring its clinical signs, diagnosis, and treatment methods.</div></div>","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100109"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145218893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Highlights of the UDNI’s 12th International Conference (Tbilisi, Georgia, 2023)","authors":"Oleg Kvlividze,&nbsp;Tinatin (Tika) Tkemaladze","doi":"10.1016/j.rare.2025.100062","DOIUrl":"10.1016/j.rare.2025.100062","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100062"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143161225","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}

{"title":"Authors of the abstracts of the 13th Undiagnosed Diseases Network International Conference (2024)","authors":"","doi":"10.1016/j.rare.2025.100085","DOIUrl":"10.1016/j.rare.2025.100085","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100085"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168752","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The 13th UDNI conference in Seoul, Korea: Celebrating a decade of global collaboration","authors":"Jong Hee Chae","doi":"10.1016/j.rare.2025.100090","DOIUrl":"10.1016/j.rare.2025.100090","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100090"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144168753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Undiagnosed Hackathons: Ending the diagnostic odyssey for individuals with rare disease","authors":"Helene Cederroth,&nbsp;Mikk Cederroth,&nbsp;Gareth Baynam,&nbsp;David A. Pearce,&nbsp;Alexander Hoischen,&nbsp;Lisenka ELM Vissers,&nbsp;Wendy AG van Zelst-Stams","doi":"10.1016/j.rare.2025.100103","DOIUrl":"10.1016/j.rare.2025.100103","url":null,"abstract":"","PeriodicalId":101058,"journal":{"name":"Rare","volume":"3 ","pages":"Article 100103"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144885404","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}