Calcified Tissue International最新文献

{"title":"Osteomesopyknosis: A Bone-Sclerosing Disorder that May be Confused with Bone Metastases.","authors":"José A Riancho, Alvaro Del Real, Ana I Vega, Rosa Landeras, Anibal Ferrerira, Ana C Ferreira, Jose Sainz, Remedios Quirce, Eva Martínez de Castro","doi":"10.1007/s00223-025-01361-1","DOIUrl":"10.1007/s00223-025-01361-1","url":null,"abstract":"<p><p>Sclerosing bone disorders encompass a range of genetic and acquired diseases. The potential for bone metastases is often a significant concern, especially when multiple discrete lesions are present. Several non-malignant disorders can also produce similar patterns of bone abnormalities. Among these is osteomesopyknosis, a rare condition characterized by multiple sclerotic lesions in the axial skeleton. Only a few cases of this presumably genetic disease have been documented. In this report, we present a new case and review previously published cases to enhance understanding and facilitate recognition of this disorder within the broader category of sclerosing bone diseases.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"53"},"PeriodicalIF":3.3,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11909070/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633618","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":"Atractylenolide I Attenuates Glucocorticoid-Induced Osteoporosis via Inhibiting NF-κB Signaling Pathway.","authors":"Yamei Liu, Xiaoqi Deng, Chen Chen, Binlan Fu, Min Wang, Jinglan Li, Liangliang Xu, Bin Wang","doi":"10.1007/s00223-025-01358-w","DOIUrl":"10.1007/s00223-025-01358-w","url":null,"abstract":"<p><p>Long-term treatment with glucocorticoids significantly impacts bone health, with glucocorticoid-induced osteoporosis (GIOP) being the most prevalent consequence. Previous studies have established that Atractylenolide I (Atr I) possesses anti-inflammatory, antioxidant and anti-tumor properties, however, its specific effects on osteoclastogenesis and GIOP are still unclear. In this study, our in vitro results revealed that Atr I inhibited RANKL-stimulated osteoclast differentiation in a dose-dependent manner, disrupted the structure of the F-actin belt in mature osteoclasts, blocked RANKL-induced ROS production, and suppressed the expression of osteoclast-associated genes. Mechanistically, the findings indicated that Atr I inhibited the RANKL-induced activation of the NF-κB signaling pathway. In vivo, the micro-CT, bone histomorphometric analysis and histological data demonstrated that Dex administration led to significant bone loss, accompanied by a considerable increase in the number of osteoclasts on the bone surface. Conversely, treatment with Atr I effectively prevented these Dex-induced alterations. Taken together, this study suggests that Atr I may hold potential as a therapeutic agent for the treatment of GIOP.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"51"},"PeriodicalIF":3.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143613470","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":"The Relationship Between the Heterogeneity of Lumbar Vertebral Trabecular Bone Mineral Density Distribution and Osteoporotic Vertebral Fractures.","authors":"Yan Wang, Duoshan Ma, Chunyu Wang, Xinxin Zhang, Mengna Tang, Jishuai Hu, Faxiang Li, Jianbo Gao, Yan Wu","doi":"10.1007/s00223-025-01342-4","DOIUrl":"10.1007/s00223-025-01342-4","url":null,"abstract":"<p><p>This study aims to investigate the relationship between the spatial distribution and heterogeneity of lumbar vertebral trabecular volumetric bone mineral density (vBMD) and osteoporotic vertebral fractures(OVF). This retrospective study included the L1 and L2 vertebrae of 143 participants with osteoporotic vertebral fractures and 429 age- and sex-matched no-fractured controls. Spatial distribution was assessed using the superior/middle and inferior/middle ratios, while heterogeneity was indicated by the quartile coefficient of variation (QCV) and interquartile range (IQR). We used QCT to measure the integral vBMD of the vertebra and the regional vBMD in the superior, middle, and inferior subregions. QCV and IQR were computed for both integral vertebrae and three subregions using voxel values from CT images. Differences between fracture and control groups were analyzed after stratification by age and sex. T-tests and Wilcoxon rank-sum tests assessed differences in spatial distribution and heterogeneity between fracture and control groups. Conditional logistic regression was employed to evaluate the associations between spatial distribution and heterogeneity with osteoporotic vertebral fractures. Trabecular vBMD was higher in the middle subregion of the vertebrae than the superior and inferior subregions. The fracture group had lower mean integral vBMD than controls. In terms of the spatial distribution, significant differences in the superior/middle and inferior/middle ratios of the L1 vertebra were observed between the fracture and control groups in the female 40-60 years group. The superior/middle ratio of the L1 vertebra in males was positively correlated with the fracture risk. Regarding heterogeneity, the fracture group had a higher QCV than the control group. QCV was positively correlated with fracture risk, with no significant variation between sexes. The spatial distribution and heterogeneity of trabecular vBMD are crucial for predicting vertebral fracture risk. These indicators are essential for fracture risk assessment and may inform prevention and treatment strategies.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"49"},"PeriodicalIF":3.3,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604014","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":"Calcaneal Ultrasound Attenuation: Does the Region of Interest and Loading Influence the Repeatability of Measurement?","authors":"Aaron P Robertson, Brendan J Jones, Christian M Langton, Scott C Wearing","doi":"10.1007/s00223-025-01357-x","DOIUrl":"10.1007/s00223-025-01357-x","url":null,"abstract":"<p><p>Current calcaneal quantitative ultrasound systems assess different regions of interest (ROI), under different levels of lower limb loading, yield different parameter values, and are likely prone to different levels of error. This study evaluated the repeatability of measures of frequency-dependent attenuation (FDA, 0.3-0.8 MHz) at three calcaneal ROI, Brooke-Wavell (BW), Jaworski (JA), and foot gauge (FG), under four loading conditions (non-weightbearing, semi-weightbearing, bipedal stance, and unipedal stance). FDA in the calcaneus was assessed in 20 healthy participants (mean (± SD) age, 41.7 ± 19.6 years; height, 1.70 ± 0.16 m; and weight, 70.1 ± 23.0 kg) using a custom-built transmission-mode ultrasound system. Reliability was evaluated using the standard error of measurement (SEM) and limits of agreement (LA) and tolerance (95%TL). Differences in mean FDA values between ROI, loading, and measurement occasions were assessed using a repeated measures ANOVA (α = .05). Mean FDA values ranged between 58.0 ± 32.0 and 77.2 ± 27.6 dB/MHz across all conditions. Repeatability of FDA was dependent on the ROI examined and tended to improve with weightbearing. The narrowest limits for 95%TL ranged between ± 15.1 dB/MHz (JA SWB) and ± 62.7 dB/MHz (BW NWB) across sites. The SEM was approximately 10 dB/MHz for both FG and JA during non-weightbearing and was reduced to around 5 dB/MHz with full weightbearing. This study demonstrates that, although measures of ultrasound FDA are dependent on the ROI, lower limb loading may be a useful method to improve the repeatability of FDA measurements.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"48"},"PeriodicalIF":3.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11893676/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143584731","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":"Diagnosis and Treatment of Hypophosphatasia.","authors":"L Seefried, F Genest, C Hofmann, M L Brandi, E Rush","doi":"10.1007/s00223-025-01356-y","DOIUrl":"10.1007/s00223-025-01356-y","url":null,"abstract":"<p><p>Hypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNAP) caused by variants in the ALPL gene. Disease manifestations encompass skeletal hypomineralization with rickets and lung hypoplasia, vitamin B6-dependent seizures, craniosynostosis, and premature loss of deciduous teeth. The clinical presentation can comprise failure to thrive with muscular hypotonia, delayed motor development, and gait disturbances later in childhood. In adults, pseudofractures are a characteristic indicator of severely compromised enzyme activity, but non-canonical symptoms like generalized musculoskeletal pain, weakness, and fatigue, frequently accompanied by neuropsychiatric and gastrointestinal issues are increasingly recognized as key findings in patients with HPP. The diagnosis is based on clinical manifestations in combination with persistently low alkaline phosphatase (ALP) activity, elevated levels of ALP substrates, specifically inorganic pyrophosphate (PPi), pyridoxal 5'-phosphate (PLP) or urine phosphoethanolamine (PEA), and genetic confirmation of a causative ALPL variant. Considering the wide range of manifestations, treatment must be multimodal and tailored to individual needs. The multidisciplinary team for comprehensive management of HPP patients should include expertise to ensure disease state metabolic and musculoskeletal treatment, dental care, neurological and neurosurgical surveillance, pain management, physical therapy, and psychological care. Asfotase alfa as first-in-class enzyme replacement therapy (ERT) for HPP has been shown to improve survival, rickets, and functional outcomes in severely affected children, but further research is needed to refine how enzyme replacement can also address emerging manifestations of the disease. Prospectively, further elucidating the pathophysiology behind the diverse clinical manifestations of HPP is instrumental for improving diagnostic concepts, establishing novel means for substituting enzyme activity, and developing integrative, multimodal care.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"46"},"PeriodicalIF":3.3,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11885340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566016","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":"Correction to: Base of Skull & Spinal Canal Narrowing in an Adolescent with Autosomal Recessive Hypophosphatemic Rickets Type 2.","authors":"P R Gokul, C Jarvis, G Kassab, S Armitage, M Z Mughal, D Hughes, R Ramakrishnan","doi":"10.1007/s00223-025-01353-1","DOIUrl":"https://doi.org/10.1007/s00223-025-01353-1","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"45"},"PeriodicalIF":3.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540276","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":"Semaphorin 3A on Osteoporosis: An Overreview of the Literature.","authors":"Yueyi Zhang, Hanfen Shi, Xuan Dai, Jin Shen, Jiyuan Yin, Tianshu Xu, Gaiyue Yue, Haochen Guo, Ruiqiong Liang, Qishuang Chen, Sihua Gao, Lili Wang, Dongwei Zhang","doi":"10.1007/s00223-025-01350-4","DOIUrl":"10.1007/s00223-025-01350-4","url":null,"abstract":"<p><p>Semaphorin 3A (Sema3A) is a signaling protein that has attracted increasing attention in recent years for its important role in regulating bone metabolism. In this review, we searched different databases with various combinations of keywords to analyze the effects of Sema3A on osteoporosis. Sema3A promotes bone formation and inhibits bone resorption by directly affecting the osteoblast and osteoclast or indirectly targeting the nervous system. The sympathetic nervous system may be the main link between the central nervous system and bone metabolism for Sema3A. In the peripheral nervous system, Sema3A may improve bone quality via sensory nervous innervation. In addition, estrogen is found to regulate Sema3A levels to improve bone homeostasis. Lots of Sema3A agonists have been documented to exhibit anti-osteoporotic potential in preclinical investigations. Therefore, Sema3A can be considered a novel therapeutic target for preserving bone mass, highlighting an alternative strategy for the development of anti-osteoporosis drugs.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"43"},"PeriodicalIF":3.3,"publicationDate":"2025-02-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476432","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":"Long-Term Changes in Parameters of Bone Quality in Kidney Transplant Recipients Treated with Denosumab.","authors":"Francesco Pollastri, Angelo Fassio, Pietro Manuel Ferraro, Stefano Andreola, Giovanni Gambaro, Andrea Spasiano, Chiara Caletti, Lisa Stefani, Matteo Gatti, Paolo Fabbrini, Maurizio Rossini, Isotta Galvagni, Davide Gatti, Giovanni Adami, Ombretta Viapiana","doi":"10.1007/s00223-025-01349-x","DOIUrl":"10.1007/s00223-025-01349-x","url":null,"abstract":"<p><p>Kidney transplant recipients (KTRs) have an elevated fracture risk. While dual-energy X-ray absorptiometry (DXA) is commonly used to assess areal bone mineral density (aBMD), it does not capture all aspects of bone quality. We investigated the long-term effects on bone DXA-derived indices of bone quality in KTRs treated with denosumab and untreated with denosumab. This is a retrospective study, including KTRs treated with denosumab and untreated age and sex-matched KTR controls. DXA-derived parameters, including trabecular bone score (TBS) and 3D-DXA parameters, were measured at the lumbar spine and femur at baseline and after four years. Hierarchical linear models were used to assess the between-group effect of treatment over time, also adjusting for site-specific aBMDs. We enrolled 23 KTRs treated with denosumab and 23 KTR denosumab-untreated KTRs. Significant between-group differences over time in favor of the denosumab group were observed for TBS (0.843, 95%CI 0.439; 1.248,p < 0.001), trabecular volumetric BMD at the total hip (Tb.vBMD TH) (13.492, 95%CI 1.707; 25.278, p = 0.003), cortical volumetric BMD at the femoral neck (Ct.vBMD FN) (28.766, 95%CI 8.373; 49.158, p = 0.008), cortical surface BMD at the total hip (c.sBMD TH) (10.507, 95%CI 4.140; 16.873,p = 0.002), cortical surface at the femoral neck (c.sBMD FN) (8.795, 95%CI 2.818; 14.771, p = 0.006), and cortical thickness at the total hip (Ct.th.TH) (0.075, 95%CI 0.020; 0.130, p = 0.010). After adjusting for BMD, the differences on TBS and Ct.vBMD FN and c.sBMD FN remained significant. Denosumab treatment in KTRs was associated with better outcomes in terms of bone quality and geometry parameters, independent of changes in aBMD.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"42"},"PeriodicalIF":3.3,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845414/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466898","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":"Severe Osteoporosis in an Adult Subject with RNU4-2 Gene Mutation.","authors":"Joshua Peñafiel-Sam, Irene Valenzuela, Pilar Peris","doi":"10.1007/s00223-025-01351-3","DOIUrl":"10.1007/s00223-025-01351-3","url":null,"abstract":"<p><p>Recent studies have shown that RNU4-2 pathogenic gene variants are among the most frequent causes of monogenic neurodevelopmental disorders. We present an adult patient with a pathogenic variant in the RNU4-2 gene associated with the presence of severe osteoporosis. A 19-year-old male diagnosed with ReNU syndrome after years of extensive evaluation for a history of developmental delay, seizures, and hearing loss, was referred to our department for osteoporosis evaluation, presenting spontaneous humeral fracture at age 16, and a low-impact fibular fracture at age 8. Physical examination showed microcephaly, hypotelorism, thoracic asymmetry, and mild scoliosis, without bone tenderness. Extensive laboratory investigations, including hormonal study, excluded additional secondary causes of osteoporosis. Bone turnover markers were increased and dual-energy X-ray absorptiometry confirmed the presence of low bone mass (with a Z-score of - 1.9 in the lumbar spine, - 3.5 in the femoral neck, and - 3.7 in the total femur). Therapy with zoledronate acid was indicated. These observations suggests that ReNU syndrome includes bone disease in the clinical manifestations. Subjects with RNU4.2 mutations may present associated osteoporosis, indicating the need to evaluate the presence of bone disease in these individuals.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"40"},"PeriodicalIF":3.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143439907","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":"Basic and Clinical Scientists Working Together-Do We Make the Best of Both Worlds?","authors":"Willem F Lems, Athanasios D Anastasilakis, Christina Møller Andreasen, Julien Paccou, Tim Rolvien, Michaela Tencerova, Jan Tuckermann, Maria P Yavropoulou, Kent Søe","doi":"10.1007/s00223-025-01347-z","DOIUrl":"10.1007/s00223-025-01347-z","url":null,"abstract":"<p><p>Musculoskeletal disorders, affecting as many as 1.3 billion people worldwide, are the leading cause of disability and impose a substantial health and socioeconomic burden. Despite the high prevalence of these conditions, translational research in this field is far from optimal, highlighting the need for stronger collaboration between basic and clinical scientists. This paper, authored by members of the basic and clinical action groups of the European Calcified Tissue Society (ECTS) and endorsed by the Board of the ECTS, examines the key barriers to effective translational research in musculoskeletal diseases, including clinician workload, differences in professional language and culture, physical distance between research sites, and insufficient interdisciplinary funding. Through interviews with eight institutional managers across five European countries, we observed that in some institutions, the collaboration between basic scientists and clinicians was regarded as no concern (but with room for improvement), and in most institutions it was recognised as a serious issue. We found consensus on the importance of collaboration yet identified discrepancies in the provision of structural and financial support. Based on these findings, we propose strategic initiatives to bridge the gap between basic and clinical research. Suggested measures include dedicated translational funding, integrated research facilities, collaborative scientific forums, strategic collaborations, establishment of physician-scientists, and, finally, bringing basic and clinical researchers together in the same building or even in a combined department. Notable successes, such as the development of the anti-osteoporotic drugs, romosozumab and denosumab, underscore the value of a coordinated approach and exemplify how shared insights between laboratory research and clinical practice can lead to impactful therapeutic advances. Moving forward, we advocate for institutional commitments to foster a robust translational research environment, as well as tailored funding initiatives to support such efforts. This paper serves as a call for discussion and action to enhance interdisciplinary cooperation to advance musculoskeletal medicine and improve outcomes for patients with debilitating musculoskeletal diseases.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"39"},"PeriodicalIF":3.3,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11828806/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143425159","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}