Calcified Tissue International最新文献

{"title":"Sex-Specific Association Patterns of Bone Microstructure and Lower Leg Arterial Calcification.","authors":"Mikolaj Bartosik, Alexander Simon, Björn Busse, Florian Barvencik, Michael Amling, Ralf Oheim, Felix N von Brackel","doi":"10.1007/s00223-024-01299-w","DOIUrl":"10.1007/s00223-024-01299-w","url":null,"abstract":"<p><p>In conversations about bone loss and the importance of calcium homeostasis, patients frequently inquire about the association with arterial calcifications. Although a relationship between bone loss and the occurrence of vascular calcifications is suspected, it is not yet fully investigated and understood. This study aims to analyze associations between bone mineralization, structure, and vascular calcification at the lower leg in patients with low bone mineral density in HR-pQCT. We retrospectively analyzed 774 high-resolution quantitative computed tomography (HR-pQCT) scans of the distal tibia for the presence of vascular calcifications. After sex-specific propensity score matching for age and BMI to account for confounders, 132 patients remained for quantification of bone microstructure, bone density, lower leg arterial calcification (LLAC), and laboratory parameters of bone turnover. The interactions between bone parameters and vascular calcification were quantified by regression analyses. The calcium metabolism was not different between individuals with and without LLAC, nor oral calcium supplementation. Female patients with LLAC had a higher cortical perimeter (p = 0.016) compared to female patients without LLAC, whereas male patients with LLAC had lower cortical pore diameter than male patients without LLAC (p = 0.027). The appearance of LLAC was sex specifically associated with bone parameters. In female patients, only plaque density was associated with HR-pQCT bone parameters and age, whereas in male patients, plaque volume was associated with HR-pQCT parameters of the distal tibia. Female patients exhibit an increasing plaque density depended on age and trabecular thinning. Decreasing cortical pore diameter and trabecular number along with increasing bone mineralization are linked to increasing plaque volume in male patients.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"636-647"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High SHBG and Low Bioavailable Testosterone are Strongly Causally Associated with Increased Forearm Fracture Risk in Women: An MR Study Leveraging Novel Female-Specific Data.","authors":"Johan Quester, Maria Nethander, Eivind Coward, Ene Reimann, Reedik Mägi, Ulrika Pettersson-Kymmer, Kristian Hveem, Claes Ohlsson","doi":"10.1007/s00223-024-01301-5","DOIUrl":"10.1007/s00223-024-01301-5","url":null,"abstract":"<p><p>The effects of androgens on women's bone health are not fully understood. Mendelian randomization (MR) studies using sex-combined data suggest that sex hormone-binding globulin (SHBG) and bioavailable testosterone (BioT) causally affect bone traits. Given significant sex differences in hormone regulation and effects, female-specific MR studies are necessary. In the current study, we explored the causal relationships of SHBG, BioT, and total testosterone (TT) with forearm fracture (FAFx) risk in women using two-sample MR analyses. We utilized a unique female-specific FAFx outcome dataset from three European biobanks (UFO, HUNT, Estonian Biobank) comprising 111,351 women and 8823 FAFx cases, along with female-specific genetic instruments of SHBG, BioT, and TT identified in the UK Biobank. We also assessed bone mineral density (BMD) at the forearm (FA), femoral neck (FN), and lumbar spine (LS) using female-specific GWAS data from the GEFOS consortium. High SHBG (odds ratio per standard deviation increase (OR/SD): 1.53, 95% confidence intervals (CIs): 1.34-1.75), low BioT (OR/SD: 0.77, 0.71-0.84) and low TT (OR/SD 0.90, 0.83-0.98) were causally associated with increased FAFx risk. BioT was positively, and SHBG inversely, causally associated with especially FA-BMD, but also LS-BMD and FN-BMD, while TT was only significantly positively associated with FA-BMD and LS-BMD. We propose that endogenous androgens and SHBG are important for women's bone health at distal trabecular-rich bone sites such as the distal forearm and may serve as predictors for FAFx risk.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"648-660"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142458745","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of Ten Osteoporosis Screening Tools in Rural Communities of Taiwan.","authors":"Wen-Tung Hsieh, Tom Maarten Groot, Hung-Kuan Yen, Chen-Yu Wang, Ming-Hsiao Hu, Olivier Q Groot, Ping-Ying Yu, Shau-Huai Fu","doi":"10.1007/s00223-024-01273-6","DOIUrl":"10.1007/s00223-024-01273-6","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with osteoporosis are at risk of fractures, which can lead to immobility and reduced quality of life. Early diagnosis and treatment are crucial for preventing fractures, but many patients are not diagnosed until after a fracture has occurred. This study aimed to evaluate the performance of 10 osteoporosis screening tools (OSTs) in rural communities of Taiwan. In this prospective study, a total of 567 senior citizens from rural communities underwent bone mineral density (BMD) measurement using dual-energy X-ray absorptiometry (DXA) and ten OSTs were administered. Discrimination analysis was performed using the area under the receiver operating characteristic curve (AUROC). Primary outcomes included area under curve (AUC) value, sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV). The DXA examination revealed that 63.0% of females and 22.4% of males had osteoporosis. Among females, Osteoporosis Index of Risk (OSIRIS) and Osteoporosis Self-Assessment Tool for Asians (OSTA) presented the best AUC value with 0.71 (0.66-0.76) and 0.70 (0.66-0.75), respectively. Among males, BWC had the best AUC value of 0.77 (0.67-0.86), followed by OSTA, Simple Calculated Osteoporosis Risk Estimation (SCORE), and OSIRIS. OSTA and OSIRIS showed acceptable performance in both genders. The specificity of Fracture Risk Assessment Tool (FRAX-H), SCORE, National Osteoporosis Foundation Score, OSIRIS, Osteoporosis Risk Assessment Instrument, Age, Bulk, One or Never Estrogen (ABONE), and Body weight criteria increased in both genders after applying the optimum cut-off. Considering it high AUC and simplicity of use, OSTA appeared to be the recommended tool for seniors of both genders among the ten OSTs. This study provides a viable reference for future development of OSTs in Taiwan. Further adjustment according to epidemiological data and risk factors is recommended while applying OSTs to different cohorts.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"507-515"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141999443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causes of Musculoskeletal Pain in Paget's Disease of Bone.","authors":"Kathryn Berg, Dervil Dockrell, Lesley Colvin, William D Fraser, Jonathan Cy Tang, Terry Aspray, Elaine Dennison, Hrushikesh Divyateja, Nazim Ghouri, Esther Hanison, Richard Keen, Eugene McCloskey, Terence W O'Neill, Faizanur Rahman, Mashood Siddiqi, Stephen Tuck, Jane Turton, Stuart H Ralston","doi":"10.1007/s00223-024-01279-0","DOIUrl":"10.1007/s00223-024-01279-0","url":null,"abstract":"<p><p>Paget's disease of bone (PDB) is characterised by increased and disorganised bone remodelling leading to various complications, such as bone deformity, deafness, secondary osteoarthritis, and pathological fracture. Pain is the most common presenting symptom of PDB, but it is unclear to what extent this is due to increased metabolic activity of the disease, complications, or unrelated causes. We conducted a cross-sectional study of 168 people with PDB attending secondary care referral centres in the UK. We documented the presence of musculoskeletal pain and sought to determine its underlying causes. Musculoskeletal pain was reported by 122/168 (72.6%) individuals. The most common cause was osteoarthritis of joints distant from an affected PDB site in 54 (44.3%), followed by metabolically active PDB in 18 (14.7%); bone deformity in 14 (11.4%); osteoarthritis of a joint neighbouring an affected site in 11 (9.0%), neuropathic pain in 10 (8.2%), and various other causes in the remainder. Pain was more common in women (p<0.019) and in older individuals (p<0.001). Circulating concentrations of macrophage colony-stimulating factor (M-CSF) were significantly higher in those with pain (p = 0.008), but there was no difference between groups of patients with and without pain in concentrations of interleukin-6 (IL-6) or biochemical markers of bone turnover. Pain is a common symptom in PDB but is most often due to osteoarthritis at an unaffected site. The study illustrates the importance of fully evaluating people with PDB to determine the underlying cause of pain so that management can be tailored appropriately.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"533-541"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531417/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142342250","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Morinda Officinalis Polysaccharides Inhibit Osteoclast Differentiation by Regulating miR-214-3p/NEDD4L in Postmenopausal Osteoporosis Mice.","authors":"Hui Huang, Jian Chen, Xiaomei Lin, Zhengkun Lin","doi":"10.1007/s00223-024-01271-8","DOIUrl":"10.1007/s00223-024-01271-8","url":null,"abstract":"<p><p>To investigate the potential mechanism of Morinda officinalis F. C. How polysaccharides (MOPs) in regulating osteoclast differentiation and apoptosis through miR-214-3p and its target protein. Ovariectomy was performed in 8-week female C57BL6 mice to establish the postmenopausal osteoporosis (PMOP) model. Mice were treated immediately with 500 mg/kg of MOPs (prevention group); others were treated 2 weeks after operation (treatment group). Left femur bone mineral density (BMD) was examined. RAW264.7 cells were administered with receptor activator of NF-κB ligand (RANKL) to establish the osteoclast (OC) model and treated with serum containing 1 or 2 g/kg of MOPs. Apoptosis-related indexes, miR-214-3p, and Expressed Developmentally Down-regulated 4-Like (NEDD4L) were detected by western blot, quantitative real-time-reverse transcription polymerase chain reaction (qRT-PCR), and flow cytometry. OC received a miR-214-3p inhibitor or NEDD4L small interfering RNA (siRNA). MOPs reversed the PMOP-induced changes in bones. Compared with the RANKL group, MOPs increased the apoptosis and related markers in OCs. MOPs decreased the femur miR-214-3p of PMOP mice (P < 0.001). Higher concentrations of MOPs reversed the upregulation of miR-214 mRNA in OCs (P < 0.001). miR-214-3p inhibitor increased the expression of Bax and CC3 (P < 0.01) and decreased the expression of Bcl-2 (P < 0.05). NEDD4L is targeted by miR-214. NEDD4L was upregulated in the RANKL + MOPs group (P < 0.01). miR-214-3p inhibitor increased the upregulation of NEDD4L induced by MOPs (P < 0.05). siRNA NEDD4L significantly reversed the inhibition of MOPs on osteoclast differentiation with miR-214-3p inhibitor (P < 0.01). MOPs effectively prevent PMOP by inhibiting osteoclastogenesis and inducing OC apoptosis through the miR-214-3p/NEDD4L pathway.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"673-685"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142092263","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.","authors":"Maxence Mancini, Roland Chapurlat, Bertrand Isidor, Marine Desjonqueres, Guillaume Couture, Pascal Guggenbuhl, Régis Coutant, Salima El Chehadeh, Mélanie Fradin, Aline Frazier, Alice Goldenberg, Pascaline Guillot, Eugénie Koumakis, Nadia Mehsen-Cêtre, Massimiliano Rossi, Élise Schaefer, Sabine Sigaudy, Valérie Porquet-Bordes, Élisabeth Fontanges, Pauline Letard, Thomas Edouard, Rose-Marie Javier, Martine Cohen-Solal, Thomas Funck-Brentano, Corinne Collet","doi":"10.1007/s00223-024-01288-z","DOIUrl":"10.1007/s00223-024-01288-z","url":null,"abstract":"<p><p>Osteoporosis is a skeletal disorder characterized by abnormal bone microarchitecture and low bone mineral density (BMD), responsible for an increased risk of fractures and skeletal fragility. It is a common pathology of the aging population. However, when osteoporosis occurs in children or young adults, it strongly suggests an underlying genetic etiology. Over the past two decades, several genes have been identified as responsible for this particular kind of considered monogenic early-onset osteoporosis (EOOP) or juvenile osteoporosis, the main ones being COL1A1, COL1A2, LRP5, LRP6, WNT1, and more recently PLS3. In this study, the objective was to characterize a large cohort of patients diagnosed with primary osteoporosis and to establish its diagnosis yield. The study included 577 patients diagnosed with primary osteoporosis and its diagnosis yield was established. To this end, next-generation sequencing (NGS) of a panel of 21 genes known to play a role in bone fragility was carried out. A genetic etiology was explained in about 18% of cases, while the others remain unexplained. The most frequently identified gene associated with EOOP is LRP5, which was responsible for 8.2% of the positive results (47 patients). As unexpected, 17 patients (2.9%) had a variant in PLS3 which encodes plastin 3. Alterations of PLS3 are associated with dominant X-linked osteoporosis, an extremely rare disease. Given the rarity of this disease, we focused on it. It was observed that males were more affected than females, but it is noteworthy that three females with a particularly severe phenotype were identified. Of these three, two had a variant in an additional gene involved in EOP, illustrating the probable existence of digenism. We significantly increase the number of variants potentially associated with EOOP, especially in PLS3. The results of our study demonstrate that molecular analysis in EOOP is beneficial and useful.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"591-598"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Saturation Effect of Lipid Accumulation Product (LAP) Index on Spinal Bone Mineral Density: A Population-Based Study.","authors":"Ting Sun, Xin Tie, Lu Liu, Hongdie Liu, Li Tian","doi":"10.1007/s00223-024-01278-1","DOIUrl":"10.1007/s00223-024-01278-1","url":null,"abstract":"<p><p>Lipid accumulation product (LAP) has a positive effect on spinal bone mineral density (BMD). However, once LAP levels exceed 27.26, the rate of spinal BMD increase slow down or even decline. This indicates a biphasic relationship between lipid metabolism and BMD, suggesting potential benefits within a certain range and possible adverse effects beyond that range. This study aimed to investigate the potential association between LAP index and BMD in US adults, as well as to explore the presence of a potential saturation effect in this relationship. This study analyzed data from the National Health and Nutrition Examination Survey (NHANES) spanning from 2007 to 2018. A multiple stepwise regression model was employed to examine the association between LAP index and total spinal BMD. Additionally, a generalized additive model and a smooth curve fitting algorithm were utilized to examine the relationship, and saturation effect study was conducted to determine the saturation level. The calculation formula of LAP used in the study was: (LAP = (waist circumstances (WC) (cm) - 58) × triglyceride (TG) (mmol/L)) for women, and (LAP = (WC (cm) - 65) × TG (mmol/L)) for men. The study involved a total of 7913 participants aged 20 years or older. Through multiple stepwise regression analysis, it was found that individuals with higher LAP scores exhibited higher total spinal BMD. In both the crude and partially adjusted models, total spinal BMD was significantly higher in the highest LAP quartile (Q4) compared to the lowest LAP quartile (Q1) (P < 0.05). Utilizing a generalized additive model and smooth curve, a nonlinear relationship between LAP and total spinal BMD was observed. Furthermore, the study identified the saturation value of LAP to be 27.26, indicating a saturation effect. This research highlights a nonlinear relationship between LAP and total spinal BMD, along with the presence of a saturation effect.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"525-532"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139399","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to: The Characteristics of Gut Microbiota and Its Relation with Diet in Postmenopausal Osteoporosis.","authors":"Tinglong Chen, Fan Meng, Ning Wang, Yongqiang Hao, Lingjie Fu","doi":"10.1007/s00223-024-01294-1","DOIUrl":"10.1007/s00223-024-01294-1","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"773-774"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142371054","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Short-Term Changes in Bone Metabolism Among Transgender Men Starting Gender-Affirming Hormone Therapy: A Systematic Review and Meta-analysis.","authors":"Daniele Tienforti, Lorenzo Marinelli, Jeroen Vervalcke, Luca Spagnolo, Federica Antolini, Andreina Bichiri, Marco Giorgio Baroni, Giovanna Motta, Guy T'Sjoen, Arcangelo Barbonetti","doi":"10.1007/s00223-024-01296-z","DOIUrl":"10.1007/s00223-024-01296-z","url":null,"abstract":"<p><p>Transgender and gender diverse individuals experience a gender identity that differs from the sex assigned at birth. Some transgender men may request testosterone to induce virilization; however, its impact on bone health remains to be fully elucidated. The objective of this systematic review and meta-analysis was to evaluate the modifications in bone metabolism over a short-term period among transgender men initiating testosterone therapy. A systematic search was conducted in PubMed, Scopus, Web of Science, and Cochrane Library. The articles of interest had to report longitudinal evaluation conducted among transgender men, before starting testosterone and after 12 and 24 months of therapy. The analyzed parameters were BMD, calcium, phosphate, 25OHD, PTH, P1NP, BAP, osteocalcin and CTx. Mean differences with 95% coefficient intervals were combined using random effects models. Funnel plot, Egger's test, and trim-and-fill analysis were used to assess publication bias. Fourteen studies met the inclusion criteria, including 1484 subjects. In absence of heterogeneity, BMD did not significantly change at lumbar spine, hip, femoral neck, and whole-body evaluations. Calcium, phosphate, 25OHD and PTH remained stable over time. Regarding bone turnover markers, only P1NP showed a statistically significant increase after 12 months of T therapy, in absence of heterogeneity (SMD 0.61 mcg/l; 95% CI: 0.40-0.83; p < 0.0001; I² = 0%, Pforheterogeneity = 0.48). Testosterone therapy among transgender men seems not to disrupt bone health after 12 and 24 months. A statistically significant elevation in P1NP levels after 12 months of therapy may indicate a positive anabolic effect of testosterone in the short-term.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"624-635"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531450/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142361183","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of the European Reference Network for Rare Bone Diseases (ERN BOND) and European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) in the Governance of the Management of Rare Bone and Mineral Diseases.","authors":"Ana Luisa Priego Zurita, Manila Boarini, Lorena Casareto, Mariya Cherenko, Marina Mordenti, Alice Moroni, S Faisal Ahmed, Natasha M Appelman-Dijkstra, Luca Sangiorgi","doi":"10.1007/s00223-024-01256-7","DOIUrl":"10.1007/s00223-024-01256-7","url":null,"abstract":"<p><p>Rare diseases (RDs) bear a significant challenge to individuals, healthcare systems, and societies. The European reference network on Rare BONe diseases (ERN BOND) is committed to improving multidisciplinary, patient-centred care for individuals with rare bone and mineral diseases (RBMDs). Its affiliated project, the European registries for rare bone and mineral conditions (EuRR-Bone) collects data using two different platforms, an electronic surveillance system (e-REC) that captures the occurrence of RBMDs and the Core Registry, a platform with the infrastructure for collecting Core data fields and longitudinal generic and condition-specific information. With emerging registries and the overlap with other ERNs, it is key to maintain the capability of the platforms to adapt to the needs of the network and the community whilst adhering to quality and FAIR (findable, accessible, interoperable, and reusable) principles. This binomial ensures long-term sustainability and potential advances in the care pathway of RBMDs whilst promoting good practice standards within Europe and beyond.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"498-506"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531435/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141765541","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}