Bone Reports最新文献

{"title":"X-linked hypophosphatemia due to a de novo novel splice-site variant in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia","authors":"Maria Fourikou ,&nbsp;Aristea Karipiadou ,&nbsp;Athina Ververi ,&nbsp;Parthena Savvidou ,&nbsp;Nikolaos Laliotis ,&nbsp;Vassilios Tsitouras ,&nbsp;Stella Stabouli ,&nbsp;Emmanuel Roilides ,&nbsp;Konstantinos Kollios","doi":"10.1016/j.bonr.2023.101731","DOIUrl":"10.1016/j.bonr.2023.101731","url":null,"abstract":"<div><p>X-linked hypophosphatemia (XLH) is a rare X-linked dominant inherited disorder caused by loss-of-function variants in the PHEX gene and characterized by renal phosphate wasting, hypophosphatemia, abnormal vitamin D metabolism, growth retardation and lower limb deformities. We describe a case of XLH-rickets in a 7-year-old girl with scaphocephaly, Chiari syndrome type I and syringomyelia, with a de novo non-canonical splice variant (c.1080-3C &gt; G) in intron 9 of the PHEX gene, that has not been previously described.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000773/pdfft?md5=bbe478b2b0c056ef802fec2bd9c51611&pid=1-s2.0-S2352187223000773-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138993258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Methodological guidance for the use of real-world data to measure exposure and utilization patterns of osteoporosis medications","authors":"Kaleen N. Hayes ,&nbsp;Suzanne M. Cadarette ,&nbsp;Andrea M. Burden","doi":"10.1016/j.bonr.2023.101730","DOIUrl":"10.1016/j.bonr.2023.101730","url":null,"abstract":"<div><p>Observational studies of osteoporosis medications can provide critical real-world evidence (RWE) that fills knowledge gaps left by clinical trials. However, careful consideration of study design is needed to yield reliable estimates of association. In particular, obtaining valid measurements of exposure to osteoporosis medications from real-world data (RWD) sources is complicated due to different medication classes, formulations, and routes of administration, each with different pharmacology. Extended half-lives of bisphosphonates and extended dosing of denosumab and zoledronic acid require particular attention. In addition, prescribing patterns and medication taking behavior often result in gaps in therapy, switching, and concomitant use of osteoporosis therapies. In this review, we present important considerations and provide specialized guidance for measuring osteoporosis drug exposures in RWD. First, we compare different sources of RWD used for osteoporosis drug studies and provide guidance on identifying osteoporosis medication use in these data sources. Next, we provide an overview of osteoporosis pharmacology and how it can influence decisions on exposure measurement within RWD. Finally, we present considerations for the measurement of osteoporosis medication exposure, adherence, switching, long-term exposures, and drug holidays using RWD. Ultimately, a thorough understanding of the differences in RWD sources and the pharmacology of osteoporosis medications is essential to obtain valid estimates of the relationship between osteoporosis medications and outcomes, such as fractures, but also to improve the critical appraisal of published studies.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000761/pdfft?md5=17b3414fdbaced4a943e3deed4df1739&pid=1-s2.0-S2352187223000761-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138617789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of reactive oxygen species in bone cell physiology and pathophysiology","authors":"Adriana Marques-Carvalho ,&nbsp;Ha-Neui Kim ,&nbsp;Maria Almeida","doi":"10.1016/j.bonr.2023.101664","DOIUrl":"10.1016/j.bonr.2023.101664","url":null,"abstract":"<div><p>Hydrogen peroxide (H₂O₂), superoxide anion radical (O₂⁻<img>), and other forms of reactive oxygen species (ROS) are produced by the vast majority of mammalian cells and can contribute both to cellular homeostasis and dysfunction. The NADPH oxidases (NOX) enzymes and the mitochondria electron transport chain (ETC) produce most of the cellular ROS. Multiple antioxidant systems prevent the accumulation of excessive amounts of ROS which cause damage to all cellular macromolecules. Many studies have examined the contribution of ROS to different bone cell types and to skeletal physiology and pathophysiology. Here, we discuss the role of H₂O₂ and O₂⁻<img> and their major enzymatic sources in osteoclasts and osteoblasts, the fundamentally different ways via which these cell types utilize mitochondrial derived H₂O₂ for differentiation and function, and the molecular mechanisms that impact and are altered by ROS in these cells. Particular emphasis is placed on evidence obtained from mouse models describing the contribution of different sources of ROS or antioxidant enzymes to bone resorption and formation. Findings from studies using pharmacological or genetically modified mouse models indicate that an increase in H₂O₂ and perhaps other ROS contribute to the loss of bone mass with aging and estrogen deficiency, the two most important causes of osteoporosis and increased fracture risk in humans.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000128/pdfft?md5=f5c1ba3420929d1ef183bd853ec71610&pid=1-s2.0-S2352187223000128-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48941299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fracture healing research: Recent insights","authors":"Lena Steppe ,&nbsp;Michael Megafu ,&nbsp;Miriam E.A. Tschaffon-Müller ,&nbsp;Anita Ignatius ,&nbsp;Melanie Haffner-Luntzer","doi":"10.1016/j.bonr.2023.101686","DOIUrl":"10.1016/j.bonr.2023.101686","url":null,"abstract":"<div><p>Bone has the rare capability of scarless regeneration that enables the complete restoration of the injured bone area. In recent decades, promising new technologies have emerged from basic, translational and clinical research for fracture treatment; however, 5–10 % of all bone fractures still fail to heal successfully or heal in a delayed manner. Several comorbidities and risk factors have been identified which impair bone healing and might lead to delayed bone union or non-union. Therefore, a considerable amount of research has been conducted to elucidate molecular mechanisms of successful and delayed fracture healing to gain further insights into this complex process. One focus of recent research is to investigate the complex interactions of different cell types and the action of progenitor cells during the healing process. Of particular interest is also the identification of patient-specific comorbidities and how these affect fracture healing. In this review, we discuss the recent knowledge about progenitor cells for long bone repair and the influence of comorbidities such as diabetes, postmenopausal osteoporosis, and chronic stress on the healing process. The topic selection for this review was made based on the presented studies at the 2022 annual meeting of the European Calcified Tissue Society (ECTS) in Helsinki.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000347/pdfft?md5=8f5def2fcdf51a5cad059afc200b8c67&pid=1-s2.0-S2352187223000347-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44142501","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Redefining stem cells through their use in musculoskeletal tissue preservation, regeneration, and cancer metastases to bone","authors":"Hicham Drissi ,&nbsp;Hanna Taipaleenmäki ,&nbsp;Christian Jorgensen","doi":"10.1016/j.bonr.2023.101678","DOIUrl":"10.1016/j.bonr.2023.101678","url":null,"abstract":"","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000268/pdfft?md5=458030d8d27718d509b55ea0cf8a99c6&pid=1-s2.0-S2352187223000268-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47024617","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cell metabolism and bone cells","authors":"Ernestina Schipani ,&nbsp;Geert Carmeliet","doi":"10.1016/j.bonr.2023.101719","DOIUrl":"10.1016/j.bonr.2023.101719","url":null,"abstract":"","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000657/pdfft?md5=030cfe85c66775d3c6f99f513565764d&pid=1-s2.0-S2352187223000657-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135638623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “Multimorbidity is associated with fragility fractures in women 50 years and older: A nationwide cross-sectional study” [Bone Rep. 15 (2021) 101139 (December)]","authors":"Anabela Barcelos ,&nbsp;David G. Lopes ,&nbsp;Helena Canhão ,&nbsp;Jaime da Cunha Branco ,&nbsp;Ana Maria Rodrigues","doi":"10.1016/j.bonr.2023.101691","DOIUrl":"10.1016/j.bonr.2023.101691","url":null,"abstract":"","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000396/pdfft?md5=5b6f654ee4b63ed2d054a70e3c3cb185&pid=1-s2.0-S2352187223000396-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135344038","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Derivation, validation, and prediction of loading-induced mineral apposition rates at endocortical and periosteal bone surfaces based on fluid velocity and pore pressure","authors":"Sanjay Singh,&nbsp;Satwinder Jit Singh,&nbsp;Jitendra Prasad","doi":"10.1016/j.bonr.2023.101729","DOIUrl":"https://doi.org/10.1016/j.bonr.2023.101729","url":null,"abstract":"<div><p>The capacity of bone to optimize its structure in response to mechanical loads has been widely observed. The mechanical load acting on a bone at the macroscopic level influences the bone cells, particularly osteocytes within the lacunae canalicular network (LCN). Osteocytes are responsive to a range of physical signals, including strain, interstitial fluid flow, and pore pressure. However, physiological tissue strain is known to be typically smaller than that required to directly induce bone formation. On the other hand, as per evidence provided by this study from the literature, models based on fluid flow alone cannot simultaneously predict bone formation at both the periosteal and endocortical surfaces. This suggests that another component of the osteocyte's mechanical environment, such as pore pressure, may play an essential role in bone adaptation, either alone or in combination with other stimuli, such as tissue strain and/or interstitial fluid flow. In vitro experiments have also confirmed that osteocytes respond to cyclic pore pressure and, thus, have a mechanism to sense the pressure, possibly because of its viscoelasticity.</p><p>In this work, dissipation energy density, being irreversible work done per unit volume, has been successfully used as a greater stimulus to incorporate all of the parameters of mechanical environments of the LCN, such as waveforms of both fluid velocity and pore pressure, number of loading cycles. Mineral Apposition Rate (MAR) has also been mathematically derived to be proportional to the square root of the dissipation energy density minus its reference value. A hypothesis is accordingly proposed and successfully tested/validated for both endocortical and periosteal surfaces with respect to an in-vivo study on mouse tibia available in the literature. The constant of proportionality and the reference/threshold value of the dissipation energy density are determined through a nonlinear curve fitting. The mathematical/computational method thus developed is then successfully used to predict MAR at both endocortical and periosteal surfaces induced by a different loading condition.</p><p>Computational implementation of the mathematical model has been done through a poroelastic finite element analysis of bone, where bone is assumed to be porous and filled with fluid, with a boundary condition that the periosteum is impermeable to the fluid and the endosteal surface maintains a reference zero pressure. This work also provides evidence for these assumptions to be true based on the state-of-the-art literature on related experimental studies. The currently developed model shows that the bone uses these conditions (assumptions) to its advantage, as the greater stimulus, i.e., the dissipation energy due to both fluid flow and pore pressure, are of a similar order at both the surfaces, and hence osteogenesis of the same order at both the surfaces.</p><p>As a bottom line, the resulting model is the first of its kind as ","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235218722300075X/pdfft?md5=22d015378a5dffb0a713b5df03ee9c6f&pid=1-s2.0-S235218722300075X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138467814","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to “The effect of low intensity pulsed ultrasound on mandibular condylar growth in young adult rats” [Bone Rep. 15 (2021) 101122 (December)]","authors":"Yasamin Hadaegh ,&nbsp;Hasan Uludag ,&nbsp;Douglas Dederich ,&nbsp;Tarek H. El-Bialy","doi":"10.1016/j.bonr.2022.101652","DOIUrl":"10.1016/j.bonr.2022.101652","url":null,"abstract":"","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187222004867/pdfft?md5=0fc4e0b7b8f3ece6227b78e51d53b272&pid=1-s2.0-S2352187222004867-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42859963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nutritional strategies to optimise musculoskeletal health for fall and fracture prevention: Looking beyond calcium, vitamin D and protein","authors":"James Webster ,&nbsp;Jack Dalla Via ,&nbsp;Christina Langley ,&nbsp;Cassandra Smith ,&nbsp;Craig Sale ,&nbsp;Marc Sim","doi":"10.1016/j.bonr.2023.101684","DOIUrl":"10.1016/j.bonr.2023.101684","url":null,"abstract":"<div><p>Falls and osteoporotic fractures are a major public health problem, particularly among older adults. A third of individuals aged 65 years and over fall at least once each year, with up to 20 % of these resulting in serious injury, including fracture. In conjunction with regular exercise, the importance of diet for musculoskeletal health has largely focused upon calcium, vitamin D, and protein, particularly in the context of preventing falls and fractures. Whilst there is evidence for the benefits of these nutrients for musculoskeletal health, other aspects of the diet remain largely underexplored. For example, vegetables are rich sources of macro- and micronutrients that are essential for muscle function and bone health, which are key factors in the prevention of falls and fractures. Recent work has highlighted the importance of nutrients such as vegetable-derived nitrate and vitamin K1 in optimising muscle strength, physical function, and bone quality. In the context of dietary patterns, vegan/plant-based diets have recently gained popularity due to perceived health benefits, animal welfare, or to tackle climate change. The elimination and/or substitution of animal-based products for plant foods (without careful planning and/or expert dietary guidance) could, however, have long-term negative musculoskeletal consequences; a trend uncovered by recent evidence. Within the overarching theme of nutrition for fall and fracture prevention in older populations, the aim of this review is to (i) summarise the current evidence for calcium, vitamin D and protein; (ii) describe the importance of vegetables and selected nutrients, such as nitrate and vitamin K1, for muscle function and bone structural integrity; and (iii) highlight current evidence around different dietary patterns (<em>e.g.</em>, plant-based, diet quality, data driven approaches) and their impact on musculoskeletal health.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187223000323/pdfft?md5=8e2d2a454c04e0b073d0babe3e3ab241&pid=1-s2.0-S2352187223000323-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43233384","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}