Pub Date : 2026-02-05DOI: 10.1186/s13023-026-04221-9
Javier de Las Heras, Jorge J Cebolla, Sofía de Pedro, Manuel Gómez-Barrera, Isidro Vitoria
{"title":"Investigating the therapeutic profile of velaglucerase alfa in paediatric patients with Gaucher disease: a systematic review across all paediatric age groups.","authors":"Javier de Las Heras, Jorge J Cebolla, Sofía de Pedro, Manuel Gómez-Barrera, Isidro Vitoria","doi":"10.1186/s13023-026-04221-9","DOIUrl":"https://doi.org/10.1186/s13023-026-04221-9","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125731","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}
Objective: Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis or occlusion of the internal carotid artery, with an abnormal vascular network forming as compensation. The etiology of MMD remains largely unknown, though genetic and immune factors have been implicated. This study aimed to investigate the landscape of peripheral immune cells in MMD patients using single-cell RNA sequencing (scRNA-seq) to identify potential biomarkers and mechanisms involved in the disease.
Methods: Peripheral blood mononuclear cells (PBMCs) were collected from six MMD patients and three controls. scRNA-seq was performed to analyze the transcriptomic profiles of various immune cell populations. Differential gene expression, functional enrichment, and cell interaction analyses were conducted to identify significant alterations in immune cell subpopulations. Additionally, trajectory analysis was used to explore the differentiation pathways of monocytes in MMD.
Results: The study identified significant transcriptional alterations in peripheral immune cells, particularly in monocytes and natural killer (NK) cells. Notably, intermediate monocytes (Mono_CD14_CD16) were increased in MMD patients compared to controls. Functional enrichment analysis revealed upregulation of genes related to immune cell activation and signal transduction in MMD. Two previously uncharacterized genes, RETN and TGFBR2, were identified as potential biomarkers. Trajectory analysis suggested that classical monocytes may differentiate into intermediate monocytes in MMD. Cell interaction analysis highlighted the role of Mono_CD14_CD16 cells in mediating immune responses through interactions involving RETN and TGF-β signaling pathways.
Conclusions: This study provides a comprehensive analysis of peripheral immune cell alterations in MMD, highlighting the involvement of monocyte subpopulations and specific signaling pathways in disease pathogenesis. The findings offer new insights into the immune dysregulation in MMD and suggest potential targets for diagnosis and treatment.
{"title":"Single-cell transcriptomic profiling of peripheral blood mononuclear cells reveals monocyte heterogeneity in patients with Moyamoya disease.","authors":"Jinlin Xiao, Liwen Wei, Xingpeng Qiu, Jian Yan, Youping Li, Jinjing Wu, Haizhou Miu, Shuhua Zhang, Daya Luo, Erming Zeng","doi":"10.1186/s13023-026-04241-5","DOIUrl":"https://doi.org/10.1186/s13023-026-04241-5","url":null,"abstract":"<p><strong>Objective: </strong>Moyamoya disease (MMD) is a rare cerebrovascular disorder characterized by progressive stenosis or occlusion of the internal carotid artery, with an abnormal vascular network forming as compensation. The etiology of MMD remains largely unknown, though genetic and immune factors have been implicated. This study aimed to investigate the landscape of peripheral immune cells in MMD patients using single-cell RNA sequencing (scRNA-seq) to identify potential biomarkers and mechanisms involved in the disease.</p><p><strong>Methods: </strong>Peripheral blood mononuclear cells (PBMCs) were collected from six MMD patients and three controls. scRNA-seq was performed to analyze the transcriptomic profiles of various immune cell populations. Differential gene expression, functional enrichment, and cell interaction analyses were conducted to identify significant alterations in immune cell subpopulations. Additionally, trajectory analysis was used to explore the differentiation pathways of monocytes in MMD.</p><p><strong>Results: </strong>The study identified significant transcriptional alterations in peripheral immune cells, particularly in monocytes and natural killer (NK) cells. Notably, intermediate monocytes (Mono_CD14_CD16) were increased in MMD patients compared to controls. Functional enrichment analysis revealed upregulation of genes related to immune cell activation and signal transduction in MMD. Two previously uncharacterized genes, RETN and TGFBR2, were identified as potential biomarkers. Trajectory analysis suggested that classical monocytes may differentiate into intermediate monocytes in MMD. Cell interaction analysis highlighted the role of Mono_CD14_CD16 cells in mediating immune responses through interactions involving RETN and TGF-β signaling pathways.</p><p><strong>Conclusions: </strong>This study provides a comprehensive analysis of peripheral immune cell alterations in MMD, highlighting the involvement of monocyte subpopulations and specific signaling pathways in disease pathogenesis. The findings offer new insights into the immune dysregulation in MMD and suggest potential targets for diagnosis and treatment.</p>","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125695","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}
Pub Date : 2026-02-05DOI: 10.1186/s13023-026-04202-y
Albe Carina Swanepoel, Christian Johannes Hendriksz, Renson Mukhwana, Abiola Oduwole, Asmahan T Abdalla, Emmanuel Ameyaw, Kandi-Catherine Muze, Andrew Auruku, Felix Pinto, Dipesalema Joel, Vesna Aleksovska, Tanya Collin-Histed, Roselyn Odero, Engela Helena Conradie
{"title":"Improving access to rare disease diagnostics in Africa: insights from a multinational pilot study.","authors":"Albe Carina Swanepoel, Christian Johannes Hendriksz, Renson Mukhwana, Abiola Oduwole, Asmahan T Abdalla, Emmanuel Ameyaw, Kandi-Catherine Muze, Andrew Auruku, Felix Pinto, Dipesalema Joel, Vesna Aleksovska, Tanya Collin-Histed, Roselyn Odero, Engela Helena Conradie","doi":"10.1186/s13023-026-04202-y","DOIUrl":"10.1186/s13023-026-04202-y","url":null,"abstract":"","PeriodicalId":19651,"journal":{"name":"Orphanet Journal of Rare Diseases","volume":"21 1","pages":"44"},"PeriodicalIF":3.5,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12879359/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146125726","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}
Pub Date : 2026-02-04DOI: 10.1186/s13023-026-04240-6
Freya Boardman-Pretty, Jyothika Kumar, Calum Grant, Elena Marchini, William Evans, Lara Menzies, Rand Dubis, Amanda Worker, Elizabeth Varones, Alan Warren, Jack Sams, Daniel Ollerenshaw, Jez Stockdale, Hadley Mahon, Peter Fish
{"title":"Evaluating algorithmic approaches to rare disease case-finding: a retrospective validation study using electronic health records.","authors":"Freya Boardman-Pretty, Jyothika Kumar, Calum Grant, Elena Marchini, William Evans, Lara Menzies, Rand Dubis, Amanda Worker, Elizabeth Varones, Alan Warren, Jack Sams, Daniel Ollerenshaw, Jez Stockdale, Hadley Mahon, Peter Fish","doi":"10.1186/s13023-026-04240-6","DOIUrl":"https://doi.org/10.1186/s13023-026-04240-6","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":"146119678","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}
Pub Date : 2026-02-04DOI: 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
{"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}
Pub Date : 2026-02-04DOI: 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}
Pub Date : 2026-02-03DOI: 10.1186/s13023-026-04228-2
Brandon M Wilk, Manavalan Gajapathy, Donna M Brown, Virginia E Duncan, Elizabeth A Worthey
{"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":"https://doi.org/10.1186/s13023-026-04228-2","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":"146113778","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}
Pub Date : 2026-02-03DOI: 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}
Pub Date : 2026-02-03DOI: 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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号