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The European Reference Networks (ERNs) initiative was started by the European Commission. The initiative was launched in 2017 in response to the 2011 EU Directive on Cross-Border Healthcare (Directive 2011/24/EU), which emphasized the need to improve healthcare for patients with rare diseases and complex conditions across the European Union. Currently, 24 ERNs are available for rare diseases. The ERN for rare uro-recto-genital diseases and complex conditions (ERN eUROGEN) is a cornerstone in improving the management of rare and complex uro-recto-genital conditions in Europe. Its collaborative model ensures that expertise and innovation are accessible to all EU patients, regardless of location, while fostering significant advancements in research, education, and healthcare delivery. The multinational inclusion of Centers of expertise includes 20 countries and 52 healthcare providers (in the ERN community, a healthcare provider is an official member of an ERN and is usually a large hospital or institution with academic and research capabilities). In this review article, we interviewed two leading experts from ERN eUROGEN to increase general knowledge of the ERN initiative and its evolution. We also aimed to show the benefits of participation from a clinical standpoint and how patients with rare diseases can benefit from virtual consultations with experts at other centers and in different countries.
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http://dx.doi.org/10.1016/j.jpurol.2025.08.020 | DOI Listing |
Zhong Nan Da Xue Xue Bao Yi Xue Ban
May 2025
Department of Nephropathy and Rheumatology, Third Xiangya Hospital, Central South University, Changsha 410013.
Dent disease is a rare X-linked recessive inherited renal tubular disorder characterized by low molecular weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, and other clinical features, and can lead to progressive renal failure. It is primarily caused by mutations in the gene. This article reports the case of a 10-year-old male patient of Chinese descent who was incidentally found to have asymptomatic proteinuria during a routine health examination.
View Article and Find Full Text PDFBiomaterials
August 2025
Department of Oral and Cranio-maxillofacial Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, College of Stomatology, Shanghai Jiao Tong University, National Center for Stomatology, National Clinical Research Center for Oral Diseases, Shanghai Key Laborator
Bone healing requires Schwann cells (SCs) paracrine factors for mesenchymal stem cell function. Diabetes mellitus (DM) patients are susceptible to developing SCs dysfunction and impairing bone healing. Rare research considered reconstructing mesenchymal stem cell-schwann cell circuitry in diabetic bone regeneration.
View Article and Find Full Text PDFAnn Rheum Dis
September 2025
Department of Pediatrics, Division of Rheumatology, University of Michigan, Ann Arbor, MI, USA.
Objectives: Juvenile dermatomyositis (JDM) is a heterogeneous autoimmune condition needing targeted treatment approaches and improved understanding of molecular mechanisms driving clinical phenotypes. We utilised exploratory proteomics from a longitudinal North American cohort of patients with new-onset JDM to identify biological pathways at disease onset and follow-up, tissue-specific disease activity, and myositis-specific autoantibody (MSA) status.
Methods: We measured 3072 plasma proteins (Olink panel) in 56 patients with JDM within 12 weeks of starting treatment (from the Childhood Arthritis and Rheumatology Research Alliance Registry and 3 additional sites) and 8 paediatric controls.
Best Pract Res Clin Haematol
September 2025
Department of Personalized Medicine and Rare Diseases, Medfuture Institute for Biomedical Research - Department of Hematology, Iuliu Hațieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; Department of Hematology, Ion Chiricuta Cancer Center, Cluj Napoca, Romania. Electronic address:
Plasma cell myeloma (multiple myeloma) is a blood cancer characterized by the clonal proliferation of plasma cells in the bone marrow. Treatment strategies evolve year by year, new drugs getting Food and Drug Administration (FDA)-approved each year. Chimeric antigen receptor (CAR) therapies are an advanced form of immunotherapy that engineer T cells to recognize and destroy cancer cells.
View Article and Find Full Text PDFBest Pract Res Clin Haematol
September 2025
Department of Personalized Medicine and Rare Diseases, Medfuture Institute for Biomedical Research - Department of Hematology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania; Department of Hematology, Ion Chiricuta Cancer Center, Cluj Napoca, Romania. Electronic address: c
Lymphomas are a group of malignant proliferations of B, T or NK-lymphoid cells at different stages of maturation. While they primarily occur in lymph nodes or lymphatic tissues, they can also involve bone marrow, blood, or other organs. Despite advances in treatment, many patients experience relapse, or develop refractory disease, prompting the development of new therapies.
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