Calcified Tissue International最新文献

{"title":"A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.","authors":"David Owen Sillence","doi":"10.1007/s00223-024-01248-7","DOIUrl":"10.1007/s00223-024-01248-7","url":null,"abstract":"<p><p>In 2023 following extensive consultation with key stakeholders, the expert Nosology Working Group of the International Skeletal Dysplasia Society (ISDS) published the new Dyadic Nosology for Genetic Disorders of the Skeleton. Some 770 entities were delineated associated with 552 genes. From these entities, over 40 genes resulting in distinct forms of Osteogenesis Imperfecta (OI) and Bone Fragility and/or Familial Osteoporosis were identified. To assist clinicians and lay stake holders and bring the considerable body of knowledge of the matrix biology and genomics to people with OI as well as to clinicians and scientists, a dyadic nosology has been recommended. This combines a genomic co-descriptor with a phenotypic naming based on the widely used Sillence nosology for the OI syndromes and the many other syndromes characterized in part by bone fragility.This review recapitulates and explains the evolution from the simple Congenita and Tarda subclassification of OI in the 1970 nosology, which was replaced by the Sillence types I-IV nosology which was again replaced in 2009 with 5 clinical groups, type 1 to 5. Qualitative and quantitative defects in type I collagen polypeptides were postulated to account for the genetic heterogeneity in OI for nearly 30 years, when OI type 5, a non-collagen disorder was recognized. Advances in matrix biology and genomics since that time have confirmed a surprising complexity both in transcriptional as well as post-translational mechanisms of collagens as well as in the many mechanisms of calcified tissue homeostasis and integrity.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"873-890"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141466397","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":"Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.","authors":"Juliana Marulanda, Jean-Marc Retrouvey, Frank Rauch","doi":"10.1007/s00223-024-01276-3","DOIUrl":"10.1007/s00223-024-01276-3","url":null,"abstract":"<p><p>Although fractures are the defining characteristic of osteogenesis imperfecta (OI), the disorder affects many tissues. Here we discuss three facets of the OI phenotype, skeletal growth and development, skeletal muscle weakness and the dental and craniofacial characteristics. Short stature is almost universal in the more severe forms of OI and is probably caused by a combination of direct effects of the underlying genetic defect on growth plates and indirect effects of fractures, bone deformities and scoliosis. Recent studies have developed OI type-specific growth curves, which allow determining whether a given child with OI grows as expected for OI type. Impaired muscle function is an important OI-related phenotype in severe OI. Muscles may be directly affected in OI by collagen type I abnormalities in muscle connective tissue and in the muscle-tendon unit. Indirect effects like bone deformities and lack of physical activity may also contribute to low muscle mass and function. Dental and craniofacial abnormalities are also very common in severe OI and include abnormal tooth structure (dentinogenesis imperfecta), malocclusion, and deformities in the bones of the face and the skull. It is hoped that future treatment approaches will address these OI-related phenotypes.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"923-930"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142016472","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":"Analyses of Osteogenesis Imperfecta in South Korea Using the Nationwide Health Insurance Service Claim Data: A Propensity Score-Matched Study.","authors":"Sin Hyung Park, Ho Yoon, Siyeong Yoon, Jaiwoo Chung, Jae-Hyun Kim, Soonchul Lee","doi":"10.1007/s00223-024-01274-5","DOIUrl":"10.1007/s00223-024-01274-5","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is the most common inherited form of bone fragility and includes a heterogeneous group of genetic disorders that most commonly result from defects associated with type I collagen. Although genetic analyses have been developed, nationwide research on the incidence and associated fractures in OI is lacking. This study aimed to investigate the patterns of OI prevalence, incidence, fracture rate, etc. in South Korea using National Health Insurance Service (NHIS) claims data. We found 1596 patients newly diagnosed with OI between March 2002 and February 2020. We evaluated the incidence, prevalence, and history of fractures, fracture site, prescription of anti-osteoporosis drugs, etc. To compare medical costs, fracture rates, and scoliosis rates, we created a control group comprising patients without OI using 1:1 propensity score matching. The prevalence of OI increased slightly each year, with an annual incidence of 20.20 per 100,000 live births. Mean fracture frequency in OI patients was 17 (2-32) times per patient and the most frequent fracture site was the lower leg. A total of 21.4% patients were prescribed anti-osteoporosis drugs, and the most popular drug was pamidronate. After 1:1 propensity score matching, in terms of scoliosis, OI patients had a 3.91 times higher prevalence of scoliosis than in healthy patients which was statistically significant. The sum of medical care expenses for patients with OI was 3.5 times higher than that for patients without OI. We identified nationwide trends in OI occurrence, fractures, and medication use. This study also highlighted the real-world data of scoliosis and medical costs compared to the control group.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"915-922"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141987438","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":"Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.","authors":"Luca Celli, Mark R Garrelfs, Ralph J B Sakkers, Mariet W Elting, Mauro Celli, Arend Bökenkamp, Cas Smits, Thadé Goderie, Jan Maerten Smit, Lothar A Schwarte, Patrick R Schober, Wouter D Lubbers, Marieke C Visser, Arthur J Kievit, Barend J van Royen, Marjolijn Gilijamse, Willem H Schreuder, Thomas Rustemeyer, Angela Pramana, Jan-Jaap Hendrickx, Max R Dahele, Peerooz Saeed, Annette C Moll, Katie R Curro-Tafili, Ebba A E Ghyczy, Chris Dickhoff, Robert A de Leeuw, Jaap H Bonjer, Jakko A Nieuwenhuijzen, Thelma C Konings, Anton F Engelsman, Augustinus M Eeckhout, Joost G van den Aardweg, Patrick J Thoral, David P Noske, Leander Dubois, Berend P Teunissen, Oliver Semler, Lena Lande Wekre, Katre Maasalu, Aare Märtson, Luca Sangiorgi, Paolo Versacci, Mara Riminucci, Paola Grammatico, Anna Zambrano, Lorena Martini, Marco Castori, Esmee Botman, Ingunn Westerheim, Lidiia Zhytnik, Dimitra Micha, Elisabeth Marelise W Eekhoff","doi":"10.1007/s00223-024-01305-1","DOIUrl":"10.1007/s00223-024-01305-1","url":null,"abstract":"<p><p>Osteogenesis Imperfecta (OI), known as \"brittle bone disease,\" presents a rare genetic disorder characterized by bone fragility, often accompanied by skeletal deformities and extraskeletal complications. OI is primarily associated with collagen type I defects, responsible for the syndromic nature of the disease affecting a broad range of tissues. As such, its multisystemic complexity necessitates multidisciplinary care approaches in all patient life stages. OI treatment remains largely supportive, commonly including bisphosphonates and orthopedic surgeries, which show promise in children. Although rehabilitation programs for children exist, guidelines for adult care and especially the transition from pediatric to adult care, are lagging behind in OI care and research. The current systematic review summarizes the literature on OI patient pediatric to adult care transition experiences and compares OI transition approaches to other chronic diseases. The review was performed based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Systematic searches were conducted across multiple databases. Search terms encompassed synonyms and closely related phrases relevant to \"OI\" and \"Transition to adult care\". The initial screening involved the evaluation of article titles, followed by a thorough review of abstracts to assess relevance for the purpose of the current review. Programs aimed at easing the transition from pediatric to adult OI care necessitate a multifaceted approach. Collaborative efforts between different medical disciplines including pediatricians, endocrinologists, orthopedics, cardiology, pulmonology, ophthalmology, otolaryngologists, maxillofacial specialists, psychologists and medical genetics, are crucial for addressing the diverse needs of OI patients during this critical life phase. Comprehensive education, readiness assessments, personalized transition plans, and further follow-up are essential components of a structured transition framework. Further research is warranted to evaluate the feasibility and efficacy of sequential stepwise transition systems tailored to individuals with OI.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"960-975"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11607004/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142615438","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":"Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta.","authors":"Winnie Liu, Lindsey Nicol, Eric Orwoll","doi":"10.1007/s00223-024-01188-2","DOIUrl":"10.1007/s00223-024-01188-2","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a genetic disorder characterized by increased bone fragility largely caused by defects in structure, synthesis, or post-translational processing of type I collagen. Drugs currently used to improve skeletal health in OI were initially developed to treat osteoporosis and clinical trials are ongoing to study their effectiveness in OI adults. Additionally, novel bone-protective agents are in preclinical studies and various phases of OI clinical trials. This review summarizes current knowledge on available pharmacologic agents and current drug trials involving OI participants. A PubMed online database search of all study types published in the English language using the terms \"osteogenesis imperfecta,\" \"OI,\" and \"brittle bone disease\" was performed in August 2022. Articles screened were restricted to adults. A ClinicalTrials.gov database search of all studies involving \"osteogenesis imperfecta\" was performed in August 2023. Although clinical trial data are limited, bisphosphonates and teriparatide may be useful in improving bone mineral density. As of yet, no clinical trials are available that adequately evaluate the usefulness of current therapies in reducing fracture risk. Several therapeutics, including teriparatide, setrusumab, anti-TGF-β antibodies, and allogeneic stem cells, are being studied in clinical trials. Preclinical studies involving Dickkopf-1 antagonists present promising data in non-OI bone disease, and could be useful in OI. Research is ongoing to improve therapeutic options for adults with OI and clinical trials involving gene-editing may be possible in the coming decade.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"805-811"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140109291","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":"Orthopedic Surgery in Osteogenesis Imperfecta in Adults.","authors":"Pascal Bizot","doi":"10.1007/s00223-024-01306-0","DOIUrl":"10.1007/s00223-024-01306-0","url":null,"abstract":"<p><p>Osteogenesis imperfecta is a genetic disorder, mainly characterized by bone fragility. In adult with osteogenesis imperfecta, surgical treatment may be indicated as an emergency procedure in the event of a fracture, or as a scheduled procedure in case of patient functional impairment due to many causes, such as persistent pain, complex bone deformities, and degenerative arthropathies. In all cases, a multidisciplinary approach is recommended. It is essential to consider the patient's characteristics and expectations regarding treatment, as well as the local conditions, which may be complex due to the poor bone quality, bone deformity, and the presence of hardware implanted during childhood. The procedure can be very complex and challenging and each patient is a unique case. An accurate preoperative planning is mandatory to select the appropriate surgical technique, which can be either conservative or prosthetic, and to evaluate its feasibility and the risk-benefit ratio. The aim is to improve the patient's quality of life and autonomy as long as possible.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"976-988"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643711","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":"Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta.","authors":"Paul Arundel, Nick Bishop","doi":"10.1007/s00223-024-01202-7","DOIUrl":"10.1007/s00223-024-01202-7","url":null,"abstract":"<p><p>There are no licensed treatments for children with osteogenesis imperfecta. Children currently receive off-label treatment with bisphosphonates, without any consistent approach to dose, drug or route of administration. Meta-analyses suggest that anti-fracture efficacy of such interventions is equivocal. New therapies are undergoing clinical trials, and it is likely that one or more will receive marketing authorisation within the next three to five years. The long-term outcome from such interventions will need to be studied carefully well beyond the period over which the clinical trials are conducted, and a consistent approach to the collection of data in this regard will be needed as a major collaborative effort.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"812-827"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606989/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140326371","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":"Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.","authors":"Jannie Dahl Hald, Bente Langdahl, Lars Folkestad, Lena Lande Wekre, Riley Johnson, Sandesh C S Nagamani, Cathleen Raggio, Stuart H Ralston, Oliver Semler, Laura Tosi, Eric Orwoll","doi":"10.1007/s00223-024-01236-x","DOIUrl":"10.1007/s00223-024-01236-x","url":null,"abstract":"<p><p>Osteogenesis imperfecta (OI) is a Mendelian connective tissue disorder associated with increased bone fragility and other clinical manifestations most commonly due to abnormalities in production, structure, or post-translational modification of type I collagen. Until recently, most research in OI has focused on the pediatric population and much less attention has been directed at the effects of OI in the adult population. This is a narrative review of the literature focusing on the skeletal as well as non-skeletal manifestations in adults with OI that may affect the aging individual. We found evidence to suggest that OI is a systemic disease which involves not only the skeleton, but also the cardiopulmonary and gastrointestinal system, soft tissues, tendons, muscle, and joints, hearing, eyesight, dental health, and women's health in OI and potentially adds negative affect to health-related quality of life. We aim to guide clinicians as well as draw attention to obvious knowledge gaps and the need for further research in adult OI.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"863-872"},"PeriodicalIF":3.3,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11606788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141247637","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":"MTX Osteopathy Versus Osteoporosis Including Response to Treatment Data-A Retrospective Single Center Study Including 172 Patients.","authors":"Felix N von Brackel, Jonathan Grambeck, Florian Barvencik, Michael Amling, Ralf Oheim","doi":"10.1007/s00223-024-01290-5","DOIUrl":"10.1007/s00223-024-01290-5","url":null,"abstract":"<p><p>MTX is an effective and widely used immunomodulatory drug for rheumatoid diseases. MTX osteopathy is a very rare and specific side effect, characterized by stress fractures at multiple locations in the lower extremity, hampering the patient's mobility by pain and loss of function. In clinical practice, osteoporosis and MTX osteopathy are repeatedly confused and a comparative workup is needed to clarity it's specifics. Furthermore, specific treatment options for MTX osteopathy need to be established. We compared patients suffering from MTX osteopathy to patients with osteoporosis (OPO). Patients underwent an extensive clinical workup including blood sampling, bone mineral density measurements, high-resolution peripheral quantitative computed tomography and muscular performance testing. Furthermore, treatment regimes in MTX osteopathy were compared with respect to regain of mobility and pain reduction. 83 patients with MTX osteopathy and 89 with OPO were included. Patients with MTX osteopathy did exhibit fractures predominantly at the lower extremity and pain scores were significantly higher (MTX: 6.75 ± 1.86 vs. OPO: 3.62 ± 2.95, p < 0.0001). MTX-caused mobility restriction was successfully reduced by treatment only if MTX was discontinued (pre-treatment: 2.16 ± 1.19 vs. post-treatment: 1.04 ± 0.87, p < 0.0001). Most mobility gain was achieved by involving anabolic treatment (anabolic: 2.1 ± 1.02 vs. antiresorptive: 1.09 ± 0.94, p < 0.05). In summary, MTX osteopathy is characterized by distinct lower extremity stress fractures leading to severe pain and immobility. Discontinuation of MTX is essential to enable treatment success and involving anabolic treatment seems to be more effectively in mobility regain as antiresorptive treatment alone.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"599-610"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531443/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142342253","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":"Long-Term Follow-up After Ovariectomy Reveals Correlations Between Bone Marrow Adiposity and Trabecular Bone Quality in the Proximal Metaphysis of Tibiae in Rats.","authors":"Maxime Bedez, Guillaume Falgayrac, Hélène Béhal, Émeline Cailliau, Jérôme Delattre, Xavier Coutel, Cécile Olejnik","doi":"10.1007/s00223-024-01298-x","DOIUrl":"10.1007/s00223-024-01298-x","url":null,"abstract":"<p><p>This study aimed to evaluate the correlation between BMAT and bone quality, describe the long-term effects of ovariectomy on bone, and investigate BMAT's spatial distribution. Fifteen-months-old female Sprague‒Dawley rats were studied, comparing ovariectomized (OVX, n = 22) and sham-operated (SHAM, n = 11) groups at 6 months. Tibias were analyzed for bone microarchitecture, BMAT (microcomputed tomography), mineral parameters (quantitative backscattered electron imaging), and bone composition (Raman microspectroscopy). The OVX tibias showed severe trabecular bone loss (lower bone volume/total volume, p < 0.001) with increased BMAT (higher adipose volume per marrow volume, p < 0.001), decreased mineral content (lower calcium concentration, p < 0.001), and altered organic components (lower mineral/matrix ratio in new bone, p = 0.03 trabecular surface, p < 0.001 trabecular core). When the data are pooled over both groups (SHAM and OVX), the adipose volume/marrow volume ratio was negatively correlated with bone volume/total volume (r =  - 0.79, p < 0.001) and mineral/matrix ratio (r =  - 0.37, p = 0.04 trabecular surface; r =  - 0.65, p < 0.001 trabecular core) and positively correlated with crystallinity (r = 0.55, p = 0.001 trabecular surface; r = 0.49, p = 0.006 trabecular core). The mineral/matrix ratio of trabecular surface new bone was strongly negatively correlated with the adipose compartment nearest to the bone surface. These findings suggest mechanisms underlying BMAT's role in bone resorption.</p>","PeriodicalId":9601,"journal":{"name":"Calcified Tissue International","volume":" ","pages":"759-770"},"PeriodicalIF":3.3,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11531434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388287","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}