Calcified Tissue International最新文献

{"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":"Correction to: Serum Pentosidine in Relation to Obesity in Patients with Type 2 Diabetes and Healthy Controls.","authors":"Sandra Baumann, Lilian Sewing, Cyril Traechslin, Wilma Verhagen-Kamerbeek, Leticia Grize, Marius Kraenzlin, Christian Meier","doi":"10.1007/s00223-025-01352-2","DOIUrl":"10.1007/s00223-025-01352-2","url":null,"abstract":"","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"44"},"PeriodicalIF":3.3,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11850497/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143482370","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":"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":"https://doi.org/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":"Fracture Risk Assessment in Metabolic Syndrome in Terms of Secondary Osteoporosis Potential. A Narrative Review.","authors":"Ferah Armutcu, Eugene McCloskey","doi":"10.1007/s00223-025-01341-5","DOIUrl":"10.1007/s00223-025-01341-5","url":null,"abstract":"<p><p>Osteoporosis is a major global public health problem with the associated bone fractures contributing significantly to both morbidity and mortality. In many countries, osteoporotic fractures will affect one in three women and one in five men over the age of 50. Similarly, diabetes, obesity, and metabolic syndrome (MetS) are among the leading public health problems due to their worldwide prevalence and burden on health budgets. Although seemingly disparate, metabolic disorders are known to affect bone health, and the interaction between fat and bone tissue is increasingly well understood. For example, it is now well established that diabetes mellitus (both type 1 and 2) is associated with fracture risk. In this narrative review, we focus on the potential link between MetS and bone health as expressed by bone mineral density and fracture risk. This narrative review demonstrates the association of MetS and its components with increased fracture risk, and also highlights the need for fracture risk assessment in patients with obesity and MetS.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"41"},"PeriodicalIF":3.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11842537/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143466887","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":"https://doi.org/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}

{"title":"Impact of Resistance Training on Bone During 40% Caloric Restriction in Growing Female Rats.","authors":"Ken D Sumida, Daniel L Smithers, Aaron Gerston, Kim A Lagerborg, S Victoria Jaque, Fred Caporaso","doi":"10.1007/s00223-025-01348-y","DOIUrl":"10.1007/s00223-025-01348-y","url":null,"abstract":"<p><p>There is a growing trend in the use of severe caloric restrictive diets among normal weight young females that can jeopardize bone health. Using an animal model, the purpose of this study was to determine whether resistance training (RT) could maintain bone health during a 6-week severe caloric restrictive (CR) diet in growing female rats. Twenty-four female rats (~ 8 weeks old) were randomly divided into the following groups: sedentary rats fed a normal diet (N = 8), sedentary rats fed a 40% CR diet (D = 8), and an RT group fed a 40% CR diet (DT = 8). The DT group climbed a vertical ladder four consecutive times (per exercise session) with weights appended to their tail 3 days/week for a total of 6 weeks. Tibial bone mineral density (BMD) was assessed using dual-energy X-ray absorptiometry scans and bone mechanical properties were measured. After 6 weeks, the body mass (Mean ± SD) of CR-fed groups (D & DT = 202.8 ± 10.7 g) was significantly lower than N (275.5 ± 25.3 g). Tibial BMD (g/cm²) for D (0.196 ± 0.012) was significantly lower vs. N (0.213 ± 0.013), resulting in a 7.9% decline. The tibial BMD for DT (0.206 ± 0.009) resulted in a 3.3% decline compared to N that was not significantly different. Bone mechanical properties were significantly greater for DT compared to D, but not significantly different compared to N. Resistance training has the potential to maintain bone health during severe caloric restriction in growing female rats.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"38"},"PeriodicalIF":3.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11811438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143381694","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":"Eruptive Process in Children with Osteogenesis Imperfecta.","authors":"Clara Sandibel Garcete Delvalle, M Joaquín De Nova García, María Rosa Mourelle Martínez","doi":"10.1007/s00223-025-01345-1","DOIUrl":"10.1007/s00223-025-01345-1","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a hereditary disorder characterized by bone fragility and skeletal abnormalities. The administration of bisphosphonates (BPs) in children with OI increases bone density. This antiresorptive inhibits osteoclast action, thus altering physiological processes, in which osteoclasts play important roles, such as the eruptive process. The aim of this investigation was to study the eruptive process (dental development of permanent dentition, resorption of temporary dentition, and alveolar eruption of the first permanent molar) in children with OI medicated with BPs and to compare the results with those of a control group. In total, 34 panoramic radiographs of children with OI [mean chronological age of 8.43 (± 1.77)] who were medicated with BPs for a period of one year or more were studied and 367 panoramic radiographs of healthy children [mean chronological age of 9.19 (± 1.62)] were used as controls. The Demirjian method was used to study the dental development of the seven permanent teeth in the third quadrant. Alveolar eruption of the first permanent molar was considered when perforation of the alveolar bone was produced. The Haavikko method was used to study the root resorption of the five primary teeth in the third quadrant, and software (PixelStick®) was used to measure the lengths of the mesial and distal roots of the primary molars. The cumulative dose of BPs was obtained by mathematically calculating the total dosage received (mg)/weight (kg) and multiplying the relative potency of the medication. The Mann‒Whitney U test was used for comparisons, and p < 0.05 indicated statistical significance. A delay of 0.95 points in dental development and delayed exfoliation of primary dentition between 1.31 and 1.66 years were described in the study group. A root resorption delay of 11.8% was described among the 5 primary teeth of 23.3% among the single-rooted teeth and of 5.6% among the two-rooted teeth in children with OI medicated with BFs (p < 0.05). Delayed alveolar eruption of the first permanent molar at 0.31 years of age was found in children with OI medicated with BFs. We detected delayed tooth development at one stage of maturation in the study group, which was clinically imperceptible. The dental age (≤ 0.55 years) was greater than the chronological age in both groups. We also reported delayed exfoliation of the primary dentition (from 1.31 to 1.66 years), delayed root resorption of the primary dentition (11.8%), and delayed (from 1 mm to 1.25 mm) root resorption of the primary molars in the study group. Although the degree of dental development of the first permanent molar was similar between the two groups, we found delayed (0.31 years) alveolar eruption in the study group and a greater delay (0.44 years) in children whose cumulative dose of bisphosphonates exceeded 2000.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":"116 1","pages":"37"},"PeriodicalIF":3.3,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363762","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}