Orphanet Journal of Rare Diseases最新文献

{"title":"A personalized home-based exercise training program in children with Marfan and Loeys-Dietz syndromes improves aerobic exercise capacity and health-related quality of life.","authors":"Thomas Edouard, Fernanda Bajanca, Clara Flumian, Fabrice Marion-Latard, Clément Pradayrol, Aitor Guitarte, Maud Langeois, Philippe Khau Van Kien, Armelle Yart, Françoise Auriol, Eric Garrigue, Yves Dulac","doi":"10.1186/s13023-026-04234-4","DOIUrl":"https://doi.org/10.1186/s13023-026-04234-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119716","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recessive congenital methemoglobinemia: a systematic review of reported cases.","authors":"Julie Neven, Tessi Beyltjens, Beyltjens E C Meuwissen, Barbara De Bisschop, Jason Bouziotis, Machiel van den Akker","doi":"10.1186/s13023-026-04215-7","DOIUrl":"https://doi.org/10.1186/s13023-026-04215-7","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146119733","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins.","authors":"Brandon M Wilk, Manavalan Gajapathy, Donna M Brown, Virginia E Duncan, Elizabeth A Worthey","doi":"10.1186/s13023-026-04228-2","DOIUrl":"10.1186/s13023-026-04228-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":"56"},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12895669/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113778","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study.","authors":"Helena F Pernice, Susann May, Felix Mühlensiepen, Sebastian Spethmann, Ricarda Kneitz, Agata Mossakowski, Katrin Hahn","doi":"10.1186/s13023-026-04236-2","DOIUrl":"https://doi.org/10.1186/s13023-026-04236-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113821","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.","authors":"Jacqueline Alves Leite, Leandro Augusto de Oliveira Barbosa, Regina L Woods, Rif S El-Mallakh","doi":"10.1186/s13023-026-04235-3","DOIUrl":"https://doi.org/10.1186/s13023-026-04235-3","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder.","authors":"Michaela Henning, Marie Hock, Arim Shukri, Vanessa Löw, Nikolaus Kernich, Jonas Rauterberg, Henning Klapproth, Iliana Tantcheva-Poór","doi":"10.1186/s13023-026-04242-4","DOIUrl":"https://doi.org/10.1186/s13023-026-04242-4","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth.","authors":"Vrinda Saraff, Pedro Arango-Sancho, Justine Bacchetta, Annemieke M Boot, Christine P Burren, Amish Chinoy, Poonam Dharmaraj, Maria Amelia Gómez Llorente, Juan David González Rodríguez, Iva Gueorguieva, Wesley Hayes, Dirk Schnabel, Héctor Ríos Duro, Elin Haf Davies, Sandra Komarzynski, Angela J Rylands, Kerry Sandilands, Haruka Ishii, Angela Williams, Santhani Selveindran, Adele Barlassina, Annabel Bowden, Agnès Linglart","doi":"10.1186/s13023-026-04244-2","DOIUrl":"https://doi.org/10.1186/s13023-026-04244-2","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146113775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical features of Infantile Epileptic Spasms Syndrome: a systematic review.","authors":"Xiao Meng, Danielle S Takacs, Yashaswini Kelagere, Zihan Zhang, Sanjanaa Seshadri, Jiyeon Cha, Ming Li, Lei-Shih Chen","doi":"10.1186/s13023-026-04229-1","DOIUrl":"https://doi.org/10.1186/s13023-026-04229-1","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases.","authors":"Johannes Boettcher, Thomas Lücke, Holger Zapf, Anne Daubmann, Jonas Denecke, Mathilde Kersting, Hermann Kalhoff, Skadi Beblo, Ricarda Schmidt, Alena Thiele, Sarah Hohmann, Wieland Kiess, Ania C Muntau, Anja Hilbert, Silke Wiegand-Grefe","doi":"10.1186/s13023-026-04233-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04233-5","url":null,"abstract":"<p><strong>Background: </strong>Children and adolescents with rare diseases represent a population that may be at risk for an avoidant/restrictive food intake disorder (ARFID). This study aimed to quantitatively examine the symptoms of ARFID in a sample of children and adolescents with rare diseases and their association with sociodemographic characteristics, eating disorder psychopathology, health-related quality of life (HRQoL), and mental health.</p><p><strong>Methods: </strong>In this observational study, data from 309 families of children with rare diseases drawn from a multicenter clinical study were used to estimate the prevalence of ARFID symptoms in children and adolescents aged 8-21 years in Germany was estimated via self-report (n = 169) and parent report (n = 502). Differences between the sample of individuals with rare diseases and normative population data, between those with and without ARFID symptoms, and between subgroups of rare diseases were investigated. Additionally, correlations between eating disorder psychopathology, sociodemographic, and psychosocial variables were investigated.</p><p><strong>Results: </strong>The prevalence of symptoms of ARFID was relatively high, with a relevant difference between self-report (3.6%) and parent report (10.2%). A vast proportion of self-reported ARFID symptoms were relevantly higher in children and adolescents with rare diseases than in normative population data. Moreover, the presence of ARFID symptoms in both self-report and parent report versions suggests that these symptoms may be consistent across varying severity levels of coexisting rare diseases. Both self-reported and parent reported ARFID symptoms in children and adolescents with rare diseases were associated with impaired HRQoL and mental health.</p><p><strong>Conclusion: </strong>The study underscores the importance of considering ARFID in children and adolescents with rare diseases. The comorbidity of rare diseases and ARFID may impact clinical care; however, healthcare professionals often lack sufficient knowledge of these patient populations. Therefore, further research and consideration in clinical practice are necessary.</p><p><strong>Trial registration: </strong>German Clinical Trials Register: DRKS00015859 (registered 18 December 2018) and ClinicalTrials.gov: NCT04339465 (registered 8 April 2020).</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097379","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"KLINSE: a comprehensive service model for rare disease information and care management support.","authors":"Katrin Jäger, Elke Dannenmann-Stern, Sevda Inbasi, Ute Grasshoff, Christina Vossler-Wolf, Holm Graessner","doi":"10.1186/s13023-026-04217-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04217-5","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146097329","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}