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Would Exosome Therapy be Effective for Bone Regeneration? Systematic Review and Meta-Analysis. 外泌体治疗对骨再生有效吗?系统评价与元分析。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-10-12 DOI: 10.1007/s00223-025-01438-x
Virgínia Amorin Fróes de Moraes, Francisco Mônico Moreira, Carolina Dos Santos Santinoni, Victor Eduardo de Souza Batista, Graziela Garrido Mori
{"title":"Would Exosome Therapy be Effective for Bone Regeneration? Systematic Review and Meta-Analysis.","authors":"Virgínia Amorin Fróes de Moraes, Francisco Mônico Moreira, Carolina Dos Santos Santinoni, Victor Eduardo de Souza Batista, Graziela Garrido Mori","doi":"10.1007/s00223-025-01438-x","DOIUrl":"https://doi.org/10.1007/s00223-025-01438-x","url":null,"abstract":"<p><p>Tissue engineering creates possibilities for promoting bone regeneration, which can culminate in an ideal therapy for treating bone defects. Considering its tools, especially exosomes (Exos), inferring its efficiency is fundamental for future clinical protocols. Therefore, this research aimed to analyze, through a systematic review, the effectiveness of Exos therapy for regenerating bone. The study followed the PRISMA, and an electronic search for literature was performed until January 2024 to answer the PICO question: Would exosome therapy be effective for bone regeneration? Bone regeneration and cellular and molecular mechanisms were included in primary and secondary outcomes, respectively. The dosage, route of administration, and source cells have also been reported. The risk of bias was investigated according to the criteria of SYRCLE's RoB tool. The meta-analysis was executed using the standardized mean difference for bone mineral density (BMD) and volume ratio bone/whole bone (BV/TV) for cranial bone defects. A total of 3718 were examined, and after applying the eligibility criteria and excluding duplicates, 91 articles were included in the results. All studies demonstrated that Exos were effective in promoting regeneration of bone defects, being superior to the control groups established by each study included in this review, in most cases. The meta-analysis proved the superiority of Exos when BMD and BV/TV were analyzed. An increase in the levels of Runx2, ALP, OCN, OPN, CD31, COL-1, and VEGF, and presence of osteoblasts, M2-type macrophages, and endothelial cells, indicating osteogenic and angiogenic molecular and cellular mechanisms. The mesenchymal stem cells are the most commonly used origin cells. Exos dosage was varied, associated with scaffolds or hydrogels for application in bone defects. The risk of bias identified high scientific evidence for most domains. The Exos therapy is effective for bone regeneration and shows promise for this purpose.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"127"},"PeriodicalIF":3.2,"publicationDate":"2025-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278961","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}
引用次数: 0
Correction: Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia. 更正:评估低碱性磷酸酶水平在临床实践:对诊断低磷酸症的意义。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-10-11 DOI: 10.1007/s00223-025-01434-1
Gonul Buyukyilmaz, Serkan Bilge Koca, Refika Gören, Andac Uzdogan, Keziban Toksoy Adıguzel, Aylin Kılınç Uğurlu, Gonul Yardimci, Pınar Kocaay, Derya Tepe, Mehmet Boyraz, Esra Kilic, Fatih Gürbüz
{"title":"Correction: Evaluation of Low Alkaline Phosphatase Levels in Clinical Practice: Implications for Diagnosing Hypophosphatasia.","authors":"Gonul Buyukyilmaz, Serkan Bilge Koca, Refika Gören, Andac Uzdogan, Keziban Toksoy Adıguzel, Aylin Kılınç Uğurlu, Gonul Yardimci, Pınar Kocaay, Derya Tepe, Mehmet Boyraz, Esra Kilic, Fatih Gürbüz","doi":"10.1007/s00223-025-01434-1","DOIUrl":"https://doi.org/10.1007/s00223-025-01434-1","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"126"},"PeriodicalIF":3.2,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273900","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}
引用次数: 0
Letter to the Editor: Oral Semaglutide did not Significantly Improve Volumetric BMD in Overweight/Obese Type 2 Diabetes. 致编辑:口服西马鲁肽不能显著改善超重/肥胖2型糖尿病患者的体积骨密度。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-10-08 DOI: 10.1007/s00223-025-01437-y
Robin M Daly, David Scott, Jakub Mesinovic
{"title":"Letter to the Editor: Oral Semaglutide did not Significantly Improve Volumetric BMD in Overweight/Obese Type 2 Diabetes.","authors":"Robin M Daly, David Scott, Jakub Mesinovic","doi":"10.1007/s00223-025-01437-y","DOIUrl":"https://doi.org/10.1007/s00223-025-01437-y","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"124"},"PeriodicalIF":3.2,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249978","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}
引用次数: 0
Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant. Larsen综合征中的严重骨质疏松症——骨形态和一种新的纤维蛋白B (FLNB)变异的病例报告。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-10-08 DOI: 10.1007/s00223-025-01436-z
Trine Maxel Juul, Lisbeth Koch Thomsen, Christina Møller Andreasen, Charlotte Ejersted, Lars Folkestad, Klaus Brusgaard, Stinus Hansen, Jesper Skovhus Thomsen, Thomas Levin Andersen, Anja Lisbeth Frederiksen
{"title":"Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.","authors":"Trine Maxel Juul, Lisbeth Koch Thomsen, Christina Møller Andreasen, Charlotte Ejersted, Lars Folkestad, Klaus Brusgaard, Stinus Hansen, Jesper Skovhus Thomsen, Thomas Levin Andersen, Anja Lisbeth Frederiksen","doi":"10.1007/s00223-025-01436-z","DOIUrl":"10.1007/s00223-025-01436-z","url":null,"abstract":"<p><p>Larsen syndrome is a rare genetic condition characterized by facial dysmorphism and skeletal deformities. It is caused by heterozygous pathogenic variants in the Filamin B encoding gene (FLNB). FLNB is a cytoskeletal protein that plays a key role in bone morphogenesis; however, the skeletal phenotype of Larsen syndrome has not been described in detail. Here, we studied the skeletal presentation in two subjects with Larsen syndrome. A case-study including a 63-year-old women and her 33-year-old daughter with Larsen syndrome, both carrying a novel FLNB c.688G > T, p.(Val230Phe) variant. The bone morphologic evaluation included, radiographs, bone mineral density assessment, and high-resolution peripheral quantitative tomography (HR-pQCT). In addition, a transiliac crest bone biopsy from the mother was evaluated by µCT, histomorphometry, and in situ examination of FLNB expression within physiological human bone remodeling sites of controls. Both women were diagnosed with severe osteoporosis (T-score < -5). The HR-pQCT analysis showed a low trabecular bone volume, as well as a low cortical thickness compared to a healthy cohort. Histomorphometry and µCT analysis of the iliac bone biopsy confirmed low cortical thickness, and revealed a high density of small eroded and quiescent intracortical pores. The trabecular bone remodeling was not affected, while cortical remodeling events accumulated as small eroded pores and quiescent pores with an improved infilling. The FLNB variant is associated with low bone mineral density reflecting severe osteoporosis and an altered trabecular and cortical bone structure, while bone turnover was less affected at the time of analysis.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"125"},"PeriodicalIF":3.2,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12507938/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145249993","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}
引用次数: 0
Balanced Basic Multicellular Unit Activity in Cortical Bone of Ovariohysterectomized Rabbits. 卵巢子宫切除兔皮质骨平衡基本多细胞单位活性。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-19 DOI: 10.1007/s00223-025-01426-1
Lindsay L Loundagin, Kim D Harrison, David M L Cooper
{"title":"Balanced Basic Multicellular Unit Activity in Cortical Bone of Ovariohysterectomized Rabbits.","authors":"Lindsay L Loundagin, Kim D Harrison, David M L Cooper","doi":"10.1007/s00223-025-01426-1","DOIUrl":"https://doi.org/10.1007/s00223-025-01426-1","url":null,"abstract":"<p><p>It is well documented that the activation frequency of basic multicellular units (BMUs) is increased following menopause, but it is unclear if a negative BMU balance also contributes to osteoporosis-related bone loss or how remodeling dynamics are altered to maintain or disrupt BMU balance. Time-lapsed imaging was used to track individual BMUs in cortical bone and investigate their spatio-temporal balance in a rabbit model of osteoporosis. The distal tibiae of female New Zealand White rabbits that received ovariohysterectomy (OVH) or SHAM surgery were scanned in vivo using synchrotron radiation micro-CT and two weeks later ex vivo using desktop micro-CT. Remodeling spaces were partitioned into resorption and formation zones based on their 3D morphology. BMU balance was assessed by the maximum radius, canal radius, wall thickness, and relative resorption and formation volumes. The longitudinal erosion rate and zone lengths were used to calculate the radial rate and duration of resorption and formation. Remodeling spaces were larger in OVH vs. SHAM rabbits; however, this augmented resorption was accompanied by increased formation such that OVH and SHAM BMUs were similarly balanced. Maintaining this balance was achieved by a 50% longer formation period in OVH vs. SHAM (21.0 vs 13.2days) as the radial infill rate was equivalent (OVH = 2.1 vs SHAM = 2.0μm/day). Radial erosion rate was faster in OVH (10.3 vs 8.6 μm/day), but resorption duration (OVH = 4.2 vs SHAM = 3.5days) and longitudinal erosion rate (OVH=41.3 vs SHAM = 40.1μm/day) were not different. This novel imaging pipeline demonstrated that the spatio-temporal dynamics of cortical BMUs are altered in this rabbit model of osteoporosis, but the collective changes in resorption and formation activity work in concert to maintain BMU balance. In contrast to the common perspective in the literature, this suggests that the elevated cortical porosity in osteoporosis is predominately due to increased activation of remodeling events rather than negative BMU balance.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"123"},"PeriodicalIF":3.2,"publicationDate":"2025-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145091024","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}
引用次数: 0
Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK. 英国成人x连锁低磷血症(XLH)的实际疗效
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-18 DOI: 10.1007/s00223-025-01433-2
Judith Bubbear, Robin Lachmann, Elaine Murphy, Gauri Krishna, Gavin P R Clunie, Jennifer Walsh, Marian Schini, Syazrah Salam, Matthew Roy, Yael Finezilber, Leigh Mathieson, Victoria Hayes, Ben Johnson, Gillian Logan, Daniel Stevens, Rakesh Davda, Mark Nixon, Annabel Bowden, Helen Barham, Richard Keen
{"title":"Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK.","authors":"Judith Bubbear, Robin Lachmann, Elaine Murphy, Gauri Krishna, Gavin P R Clunie, Jennifer Walsh, Marian Schini, Syazrah Salam, Matthew Roy, Yael Finezilber, Leigh Mathieson, Victoria Hayes, Ben Johnson, Gillian Logan, Daniel Stevens, Rakesh Davda, Mark Nixon, Annabel Bowden, Helen Barham, Richard Keen","doi":"10.1007/s00223-025-01433-2","DOIUrl":"10.1007/s00223-025-01433-2","url":null,"abstract":"<p><p>X-linked hypophosphataemia (XLH) is a genetic phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23), which leads to skeletal morbidities, pain, stiffness, and impairments in physical function and health-related quality of life. Burosumab inhibits excess circulating FGF23, restoring bone biochemistry. Here we report real-world data from adults with debilitating XLH symptoms who started treatment with burosumab through a UK early access programme. Change from baseline was assessed for bone biochemistry and patient-reported outcomes (PROs) collected from patients' medical records from September 2019 to December 2022. The proportion of patients (n = 136; 66% female, median age 44.0 years [range 18-83]) with normal serum phosphate increased from 5% (6/126) at baseline to 63% (52/82) after 6 months' burosumab treatment; mean serum phosphate increased significantly from baseline. Significant improvements from baseline were observed in Brief Pain Inventory short-form Worst Pain, Pain Severity and Pain Interference scores (mean [SD] improvement at 6 months: 1.8 [2.3], 1.6 [2.1] and 1.9 [2.2] points, respectively). Western Ontario and McMaster Universities Arthritis Index Stiffness, Pain, Physical Function and total scores improved significantly at 6 months (15.9 [29.7], 11.4 [24.3], 15.7 [19.7] and 15.4 [18.3], respectively), as did EuroQol five-dimension five-level (EQ-5D-5L) utility and visual analogue scale (VAS) scores (0.16 [0.22] and 17.0 [21.6]). Most improvements were clinically meaningful (where benchmarks exist). This study demonstrates the effectiveness of burosumab in real-world practice, supporting findings from clinical trials, and provides new evidence that burosumab treatment substantially improves EQ-5D-5L utility and VAS scores in adults with XLH.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"122"},"PeriodicalIF":3.2,"publicationDate":"2025-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12446407/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079799","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}
引用次数: 0
Rebound Effect Following the Discontinuation of Palopegteriparatide. Palopegteriparatide停药后的反弹效应。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-16 DOI: 10.1007/s00223-025-01432-3
Anda Mihaela Naciu, Eleonora Sargentini, Elena Tsourdi, Andrea Palermo, Gaia Tabacco
{"title":"Rebound Effect Following the Discontinuation of Palopegteriparatide.","authors":"Anda Mihaela Naciu, Eleonora Sargentini, Elena Tsourdi, Andrea Palermo, Gaia Tabacco","doi":"10.1007/s00223-025-01432-3","DOIUrl":"10.1007/s00223-025-01432-3","url":null,"abstract":"<p><p>Hypoparathyroidism (HypoPT) results from deficient parathyroid hormone (PTH) secretion or action, leading to hypocalcemia, hyperphosphatemia, and hypercalciuria. Traditionally, treatment involves oral calcium and active vitamin D supplementation. Recombinant PTH therapies, such as rh-PTH (1-84) and PTH (1-34), offer a more physiological alternative, improving calcium homeostasis and reducing associated complications. Recently, palopegteriparatide, a long-acting prodrug of PTH (1-34), was approved as PTH replacement therapy for chronic HypoPT, offering improved biochemical control. However, there is limited information regarding the effects of discontinuing palopegteriparatide. We present the case of a 62-year-old male with postsurgical HypoPT who discontinued palopegteriparatide therapy after three years of treatment, and restarted calcium and calcitriol therapy at different regimens (25% reduction in calcium and double dose of calcitriol compared to the respective doses before starting palopegteriparatide). One week post-discontinuation, his calcium and phosphorus remained stable. However, one month later, he developed symptomatic hypocalcemia (albumin-adjusted serum calcium 7.4 mg/dL and phosphorus 5.1 mg/dL), requiring increased oral calcium doses to restore calcium levels to target ranges. After dose adjustments, calcium and phosphorus levels returned to therapeutic ranges, with the patient reporting symptom improvement. Six months later, his calcium and phosphorus levels remained stable, and the dose of calcium and calcitriol therapy was lower than pre-treatment with palopegteriparatide. This case highlights a potential rebound effect following the discontinuation of palopegteriparatide. While the hypocalcemia was mild and managed at the outpatient setting, this case emphasizes the need for close monitoring and possible adjustments in therapy upon discontinuation of palopegteriparatide.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"121"},"PeriodicalIF":3.2,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145069043","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}
引用次数: 0
X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells. x连锁低磷血症:成纤维细胞生长因子23在人类骨骼肌来源细胞中的作用。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-09 DOI: 10.1007/s00223-025-01415-4
I Falsetti, G Palmini, S Donati, C Aurilia, R Zonefrati, L Di Filippo, A Giustina, S Giannini, G P Arcidiacono, T Iantomasi, D Lazzerini, P Joos-Vandewalle, C Lee, M L Brandi
{"title":"X-Linked Hypophosphatemia: Role of Fibroblast Growth Factor 23 on Human Skeletal Muscle-Derived Cells.","authors":"I Falsetti, G Palmini, S Donati, C Aurilia, R Zonefrati, L Di Filippo, A Giustina, S Giannini, G P Arcidiacono, T Iantomasi, D Lazzerini, P Joos-Vandewalle, C Lee, M L Brandi","doi":"10.1007/s00223-025-01415-4","DOIUrl":"10.1007/s00223-025-01415-4","url":null,"abstract":"<p><p>X-linked hypophosphatemia (XLH) is a rare and progressive disease, due to inactivating mutations in the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene. These pathogenic variants result in elevated circulating levels of fibroblast growth factor 23 (FGF23), responsible for the main clinical manifestations of XLH, such as hypophosphatemia, skeletal deformities, and mineralization defects. However, XLH also involves muscular disorders (muscle weakness, pain, reduced muscle density, peak strength, and power). Although XLH is characterized by muscle disorders, to date there are few studies on the action of FGF23 on muscle. Therefore, this study aims to evaluate the effects of FGF23 in an in vitro model of skeletal muscle satellite cells derived from human biopsies (hSMCs). After isolating and characterizing three lines of hSMCs from three volunteers, we evaluated the effect of FGF23 on the proliferative and myogenic differentiation process. We observed that none of the three concentrations of FGF23 tested (1, 10, 100 ng/mL) affected the proliferative process after 48 h of treatment. On the contrary, after 24 and 48 h of treatment, FGF23 resulted in a significant reduction in the gene expression of the myogenic regulatory factors family (Myf-5, MyoD-1, Myogenin, and MRF4), irisin, myosin heavy chain, myostatin, desmin, FGF23 receptors (FGRF1-4) and KLOTHO coreceptor. We, therefore, hypothesized that FGF23 is directly involved in the muscular disorders that characterize XLH, and clarifying these effects at the molecular and cellular level is essential to elucidate XLH pathogenesis and, consequently, its management.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"120"},"PeriodicalIF":3.2,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12420773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029096","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}
引用次数: 0
Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India. 罕见代谢性骨病的临床特征和管理:对印度罕见代谢性骨病登记的审计。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-07 DOI: 10.1007/s00223-025-01423-4
Mani Sangar, Liza Das, Simran Kaur, Vandana Dhiman, Sanjay Kumar Bhadada
{"title":"Clinical Characteristics and Management of Rare Metabolic Bone Diseases: An Audit of the Rare Metabolic Bone Disease Registry of India.","authors":"Mani Sangar, Liza Das, Simran Kaur, Vandana Dhiman, Sanjay Kumar Bhadada","doi":"10.1007/s00223-025-01423-4","DOIUrl":"https://doi.org/10.1007/s00223-025-01423-4","url":null,"abstract":"<p><p>Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.in registry (2010-2024), a 15-year database documenting only rare MBDs. Clinical presentation and demographic data of patients with rare MBDs were collated. Common MBDs (osteoporosis, primary hyperparathyroidism) were excluded. Genetic testing was performed in a subset of patients. There was a total of 218 patients with an almost equal gender distribution (male-to-female ratio of 1:1.07) and a mean age of 29.1 ± 18.9 years. The registry identified 29 rare MBDs with three main disease categories: demineralization disorders (50.4%), disorders of bone matrix and cartilage formation (32.5%), and sclerotic disorders (13.7%); with a smaller proportion categorized as unclassified bone disorders (2.7%). Rickets/osteomalacia (27.1%) was the most common, followed by osteogenesis imperfecta (23.4%) and fibrous dysplasia/McCune-Albright syndrome (18.8%). Fractures affected 57.7% of patients, with 24.5% experiencing multiple fractures, while 31.1% exhibited skeletal deformities. Mutation analysis in our registry identified pathogenic variants in the SOST, TGFβ1, SLC34A3, ALPL, and VCP genes, confirming the genetic basis of sclerosteosis, Camurati-Engelmann disease, hypophosphatemic rickets, hypophosphatasia, and IBMPFD, respectively. Different management strategies were used that included teriparatide, bisphosphonates (zoledronate or alendronate) with total contact casting, intralesional zoledronate, denosumab, calcium, active vitamin D, and recombinant human growth hormone. Total parathyroidectomy was performed in specific cases. The registry classified RMBDs into four categories, with demineralization disorders being the most common, followed by bone matrix/cartilage formation disorders, sclerotic diseases, and unclassified cases. There were 29 RMBDs, and rickets/osteomalacia was the most prevalent subtype, tumor-induced osteomalacia followed by familial hypophosphatemic osteomalacia. Among the unclassified bone disorders, fragility fractures emerged as the most common presentation.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"119"},"PeriodicalIF":3.2,"publicationDate":"2025-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145008141","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}
引用次数: 0
Association of Energy, Macronutrients, and Fiber Intakes with Bone Health in Adolescent Athletes. 青少年运动员摄入能量、常量营养素和纤维与骨骼健康的关系。
IF 3.2 3区 医学
Calcified Tissue International Pub Date : 2025-09-05 DOI: 10.1007/s00223-025-01430-5
Clair Costa Miranda, André de Araújo Pinto, Tiago Rodrigues de Lima, Mateus Augusto Bim, Romulo Araujo Fernandes, Andreia Pelegrini
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