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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. 马凡综合征和洛伊斯-迪茨综合征儿童的个性化家庭运动训练计划可改善有氧运动能力和与健康相关的生活质量。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-04 DOI: 10.1186/s13023-026-04234-4
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
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引用次数: 0
Recessive congenital methemoglobinemia: a systematic review of reported cases. 隐性先天性高铁血红蛋白血症:报告病例的系统回顾。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-04 DOI: 10.1186/s13023-026-04215-7
Julie Neven, Tessi Beyltjens, Beyltjens E C Meuwissen, Barbara De Bisschop, Jason Bouziotis, Machiel van den Akker
{"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}
引用次数: 0
Multi-omic analysis identifies a multi-step pathology in a case of multiple chorangioma syndrome in monochorionic twins. 多组学分析确定了一个多步骤病理在单绒毛膜双胞胎多发性脉管瘤综合征的情况下。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-03 DOI: 10.1186/s13023-026-04228-2
Brandon M Wilk, Manavalan Gajapathy, Donna M Brown, Virginia E Duncan, Elizabeth A Worthey
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引用次数: 0
Patient journey with Charcot-Marie-Tooth Disease - A German patient survey study. 患有腓骨肌萎缩症的病人之旅-一项德国病人调查研究。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-03 DOI: 10.1186/s13023-026-04236-2
Helena F Pernice, Susann May, Felix Mühlensiepen, Sebastian Spethmann, Ricarda Kneitz, Agata Mossakowski, Katrin Hahn
{"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}
引用次数: 0
Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood. 双相情感障碍和atp1a3相关疾病之间的相似之处:锂治疗儿童交替偏瘫的一个窗口
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-03 DOI: 10.1186/s13023-026-04235-3
Jacqueline Alves Leite, Leandro Augusto de Oliveira Barbosa, Regina L Woods, Rif S El-Mallakh
{"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}
引用次数: 0
Prevalence and management of mental health comorbidities in a German cohort of patients with Ehlers-Danlos syndromes and a generalized hypermobility spectrum disorder. 德国Ehlers-Danlos综合征和广泛性多动谱系障碍患者的精神健康合并症的患病率和管理
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-03 DOI: 10.1186/s13023-026-04242-4
Michaela Henning, Marie Hock, Arim Shukri, Vanessa Löw, Nikolaus Kernich, Jonas Rauterberg, Henning Klapproth, Iliana Tantcheva-Poór
{"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}
引用次数: 0
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. 患有x -联性低磷血症(XLH)的青少年的生活经历:在骨骼生长结束后继续和停止布罗单抗治疗的混合方法分析
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-03 DOI: 10.1186/s13023-026-04244-2
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
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引用次数: 0
Clinical features of Infantile Epileptic Spasms Syndrome: a systematic review. 婴儿癫痫性痉挛综合征的临床特征:系统综述。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-02-02 DOI: 10.1186/s13023-026-04229-1
Xiao Meng, Danielle S Takacs, Yashaswini Kelagere, Zihan Zhang, Sanjanaa Seshadri, Jiyeon Cha, Ming Li, Lei-Shih Chen
{"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}
引用次数: 0
Prevalence of avoidant/restrictive food intake disorder in children and adolescents with rare diseases. 患有罕见疾病的儿童和青少年中回避/限制性食物摄入障碍的患病率
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-31 DOI: 10.1186/s13023-026-04233-5
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

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Trial registration: German Clinical Trials Register: DRKS00015859 (registered 18 December 2018) and ClinicalTrials.gov: NCT04339465 (registered 8 April 2020).

背景:患有罕见疾病的儿童和青少年是一个可能存在回避/限制性食物摄入障碍(ARFID)风险的人群。本研究旨在定量研究患有罕见疾病的儿童和青少年ARFID的症状及其与社会人口学特征、饮食失调精神病理、健康相关生活质量(HRQoL)和心理健康的关系。方法:在这项观察性研究中,来自309个罕见病儿童家庭的数据来自一项多中心临床研究,通过自我报告(n = 169)和父母报告(n = 502)来估计德国8-21岁儿童和青少年ARFID症状的患病率。调查了罕见病个体样本与正常人群数据之间、有ARFID症状和无ARFID症状之间以及罕见病亚组之间的差异。此外,还研究了饮食失调精神病理、社会人口学和社会心理变量之间的相关性。结果:ARFID症状的患病率较高,自我报告(3.6%)与家长报告(10.2%)存在相关差异。在患有罕见疾病的儿童和青少年中,自我报告ARFID症状的比例明显高于标准人群数据。此外,自我报告和父母报告版本中ARFID症状的存在表明,这些症状可能在共存的罕见疾病的不同严重程度上是一致的。患有罕见疾病的儿童和青少年的ARFID症状与HRQoL和心理健康受损相关。结论:该研究强调了在患有罕见疾病的儿童和青少年中考虑ARFID的重要性。罕见病和ARFID的合并症可能影响临床护理;然而,医疗保健专业人员往往缺乏对这些患者群体的足够了解。因此,有必要在临床实践中进一步研究和思考。试验注册:德国临床试验注册:DRKS00015859(注册2018年12月18日)和ClinicalTrials.gov: NCT04339465(注册2020年4月8日)。
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引用次数: 0
KLINSE: a comprehensive service model for rare disease information and care management support. KLINSE:罕见病信息和护理管理支持的综合服务模式。
IF 3.5 2区 医学 Q2 GENETICS & HEREDITY Pub Date : 2026-01-31 DOI: 10.1186/s13023-026-04217-5
Katrin Jäger, Elke Dannenmann-Stern, Sevda Inbasi, Ute Grasshoff, Christina Vossler-Wolf, Holm Graessner
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引用次数: 0
期刊
Orphanet Journal of Rare Diseases
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