Bone Reports最新文献

{"title":"A moderate spinal contusion injury in rats alters bone turnover both below and above the level of injury with sex-based differences apparent in long-term recovery","authors":"Corinne E. Metzger ,&nbsp;Robert C. Moore ,&nbsp;Alexander S. Pirkle ,&nbsp;Landon Y. Tak ,&nbsp;Josephina Rau ,&nbsp;Jessica A. Bryan ,&nbsp;Alexander Stefanov ,&nbsp;Matthew R. Allen ,&nbsp;Michelle A. Hook","doi":"10.1016/j.bonr.2024.101761","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101761","url":null,"abstract":"<div><p>Spinal cord injury (SCI) leads to significant sublesional bone loss and high fracture rates. While loss of mechanical loading plays a significant role in SCI-induced bone loss, animal studies have demonstrated mechanical loading alone does not fully account for loss of bone following SCI. Indeed, we have shown that bone loss occurs below the level of an incomplete moderate contusion SCI, despite the resumption of weight-bearing and stepping. As systemic factors could also impact bone after SCI, bone alterations may also be present in bone sites above the level of injury. To examine this, we assessed bone microarchitecture and bone turnover in the supralesional humerus in male and female rats at two different ages following a moderate contusion injury in both sub-chronic (30 days) and chronic (180 days) time points after injury. At the 30-day timepoint, we found that both young and adult male SCI rats had decrements in trabecular bone volume at the supralesional proximal humerus (PH), while female SCI rats were not different from age-matched shams. At the 180-day timepoint, there were no statistical differences between SCI and sham groups, irrespective of age or sex, at the supralesional proximal humerus. At the 30-day timepoint, all SCI rats had lower BFR and higher osteoclast-covered trabecular surfaces in the proximal humerus compared to age-matched sham groups generally matching the pattern of SCI-induced changes in bone turnover seen in the sublesional proximal tibia. However, at the 180-day timepoint, only male SCI rats had lower BFR at the supralesional proximal humerus while female SCI rats had higher or no different BFR than their age-matched counterparts. Overall, this preclinical study demonstrates that a moderate contusion SCI leads to alterations in bone turnover above the level of injury within 30-days of injury; however male SCI rats maintained lower BFR in the supralesional humerus into long-term recovery. These data further highlight that bone loss after SCI is not driven solely by disuse. Additionally, these data allude to potential systemic factors exerting influence on bone following SCI and highlight the need to consider treatments for SCI-induced bone loss that impact both sublesional and systemic factors.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000287/pdfft?md5=a51a263fe86d2ee34bb8667a3b9c6906&pid=1-s2.0-S2352187224000287-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140549885","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":"Orthobiologics in delayed union and non-union of adult long bones fractures: A systematic review","authors":"Lorenzo Impieri ,&nbsp;Andrea Pezzi ,&nbsp;Henrique Hadad ,&nbsp;Giuseppe M. Peretti ,&nbsp;Laura Mangiavini ,&nbsp;Nicolò Rossi","doi":"10.1016/j.bonr.2024.101760","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101760","url":null,"abstract":"<div><h3>Background</h3><p>Fracture healing poses a significant challenge in orthopedics. Successful regeneration of bone is provided by mechanical stability and a favorable biological microenvironment. This systematic review aims to explore the clinical application of orthobiologics in treating aseptic delayed union and non-union of long bones in adults.</p></div><div><h3>Methods</h3><p>A systematic review was conducted following the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA) guidelines. Three databases were explored, with no date restrictions, using keywords related to orthobiologics and delayed union and non-union. Eligible studies included human clinical studies in English, with available full texts, examining orthobiologics such as platelet-rich plasma (PRP), mesenchymal stem cells (MSCs), and bone morphogenetic protein (BMPs) for treating aseptic delayed unions and non-unions in adults. Animal studies, in vitro research, and studies on non-unions due to congenital defects, tumors or infections were excluded.</p></div><div><h3>Results</h3><p>The initial search identified 9417 studies, with 20 ultimately included in the review. These studies involved 493 patients affected by non-union and 256 patients affected by delayed union, with an average age respectively of 40.62 years and 41.7 years. The mean follow-up period was 15.55 months for non-unions and 8.07 months for delayed unions. PRP was the most used orthobiologic, and outcomes were evaluated through time to union, functional scores, and clinical examinations. The results indicated that orthobiologics, especially PRP, tended to yield better outcomes compared to surgical procedures without biological factors.</p></div><div><h3>Conclusion</h3><p>This systematic review suggests that orthobiologics, such as PRP, BMPs, and MSCs, can be effective and safe in the management of delayed union and non-union fractures. These biological treatments have the potential to improve union rates, reduce healing times, and enhance functional outcomes in patients with non-union fractures. Further research is essential to refine treatment protocols and determine the most suitable orthobiologic for specific patient populations and fracture types.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000275/pdfft?md5=076ae80716a8515220cfba235786c7da&pid=1-s2.0-S2352187224000275-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140535984","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":"Healing of tumor-induced osteomalacia as assessed by high-resolution peripheral quantitative computed tomography is not similar across the skeleton in the first years following complete tumor excision","authors":"Nilton Salles Rosa Neto ,&nbsp;Rosa Maria Rodrigues Pereira ,&nbsp;Emily Figueiredo Neves Yuki ,&nbsp;Fernando Henrique Carlos de Souza ,&nbsp;Liliam Takayama ,&nbsp;Maria Inez da Silveira Carneiro ,&nbsp;Luiz Guilherme Cernaglia Aureliano de Lima ,&nbsp;Augusto Ishy ,&nbsp;Alexandre José Reis Elias","doi":"10.1016/j.bonr.2024.101758","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101758","url":null,"abstract":"<div><p>Tumor-induced osteomalacia is caused by excessive fibroblast growth factor 23 production mainly from phosphaturic mesenchymal tumors. Surgical excision or tumor ablation are the preferred treatment. Information on bone microarchitecture parameters assessed by high-resolution peripheral quantitative computed tomography is limited. We report a woman with hypophosphatemic osteomalacia with generalized pain, weakness and recurrent fractures, and a large thoracic vertebral mass extending to the posterior mediastinum. Detailed radiologic and histopathologic evaluation revealed a phosphaturic mesenchymal tumor. Two surgeries were necessary for complete removal of the mass. Clinical symptoms improved after attaining normophosphatemia. Four-year post-surgical HR-pQCT parameters, compared to baseline, showed in the left distal radius, stable trabecular and cortical volumetric bone mineral density although below reference range. There was stability of trabecular number and thickness. Both stiffness and failure load decreased. A shift in cortical parameters was noted in year 2. In the left distal tibia, trabecular volumetric bone mineral density decreased whereas cortical volumetric bone mineral density markedly increased, as did cortical area. There was stability in the trabecular number and thickness. Both stiffness and failure load improved. Findings from HR-pQCT measurements in this patient disclosed that the healing of osteomalacia is not similar across the peripheral skeletal sites in the first years following tumor removal. Results contrasted low but stable volumetric bone mineral density in the distal radius with increase in the distal tibia at the expense of cortical bone. Our report helps further delineate the pattern of bone healing after treatment of this rare bone disorder.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000251/pdfft?md5=4c9fc234b49eb4b6c75613c48b0f1c6d&pid=1-s2.0-S2352187224000251-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140344612","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":"Intravenous iron-induced hypophosphatemia and kidney stone disease","authors":"Marlene Panzer ,&nbsp;Eva Meindl ,&nbsp;Benedikt Schaefer ,&nbsp;Sonja Wagner ,&nbsp;Bernhard Glodny ,&nbsp;Gert Mayer ,&nbsp;Andreas Pircher ,&nbsp;Christoph Schwarz ,&nbsp;Felix Beckmann ,&nbsp;Clivia Hejny ,&nbsp;Bastian Joachim-Mrosko ,&nbsp;Juergen Konzett ,&nbsp;Herbert Tilg ,&nbsp;Isabel Heidegger ,&nbsp;Myles Wolf ,&nbsp;Ralf Weiskirchen ,&nbsp;Heinz Zoller","doi":"10.1016/j.bonr.2024.101759","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101759","url":null,"abstract":"<div><p>Patients with Crohn's disease are at increased risk for symptomatic nephrolithiasis. Stones in these patients are most commonly composed of calcium oxalate monohydrate or mixed calcium-oxalate and calcium-phosphate. Precipitation of both minerals depends on urinary pH, calcium, phosphate and oxalate excretion. The present manuscript reports on two patients with Crohn's disease and bowel resection, in whom the onset of symptomatic urolithiasis occurred after repeated infusions of ferric carboxymaltose – a drug, which is known to cause hyperphosphaturia. The present study shows that ferric carboxymaltose-induced hyperphosphaturia can be associated with kidney stone formation and symptomatic urolithiasis, especially in patients treated with calcitriol. Calcitriol has been shown to mitigate ferric carboxymaltose-induced secondary hyperparathyroidism and hyperphosphaturia, but is known to increase urinary calcium excretion. Chemical analysis of recovered stones revealed that they were mixed calcium oxalate and phosphate stones. Ring-like deposition of iron detected by spatially resolved elemental analysis using laser ablation-inductively coupled plasma mass spectrometry, showed that the stones also contained iron. Based on our findings, we propose that patients with inflammatory bowel disease requiring intravenous iron therapy should be carefully monitored for the development of hypophosphatemia and urolithiasis. If hypophosphatemia occurs in such patients, calcitriol should be used with caution.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000263/pdfft?md5=8ee7578c848bacd7b0fa17536a340bf9&pid=1-s2.0-S2352187224000263-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140341725","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":"A case of hypophosphatemia and elevated intact fibroblast growth factor 23 levels after short-term saccharated ferric oxide administration in a young woman and database analysis of adverse drug reactions in Japan","authors":"Teruhisa Kinoshita ,&nbsp;Yuki Kondo ,&nbsp;Yuka Sakazaki ,&nbsp;Hiroki Imaizumi ,&nbsp;Norio Takimoto ,&nbsp;Yoichi Ishitsuka","doi":"10.1016/j.bonr.2024.101754","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101754","url":null,"abstract":"<div><p>Intravenous iron replacement therapy is a common treatment for iron deficiency. Commonly used agents in this treatment include ferric carboxymaltose, ferric derisomaltose, and saccharated ferric oxide (SFO). These drugs are known to elevate fibroblast growth factor 23 levels, resulting in hypophosphatemia, but in past reports, hypophosphatemia attributable to SFO treatment has been associated mainly with prolonged administration over several weeks. The present study details our experience of a case of moderate hypophosphatemia (&lt;2 mg/dL) in a 22-year-old woman who had no specific history of hypophosphatemia during the first 5 days of SFO treatment, and showed an increase in intact fibroblast growth factor 23 levels within the first week of treatment. Cases of hypophosphatemia have been reported as occurring as early as 1 week after the start of SFO administration in the Japanese Adverse Drug Event Report database. These cases, along with our case, underline the need for awareness of the possibility of hypophosphatemia from the early stage of SFO administration, regardless of the patient's age or dosage, as well as the need to monitor patients to prevent complications.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000214/pdfft?md5=83d372551d2afc8edc0d12705ddb6697&pid=1-s2.0-S2352187224000214-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140321054","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":"Homogenized finite element analysis of distal tibia sections: Achievements and limitations","authors":"Mathieu Simon ,&nbsp;Michael Indermaur ,&nbsp;Denis Schenk ,&nbsp;Benjamin Voumard ,&nbsp;Ivan Zderic ,&nbsp;Dominic Mischler ,&nbsp;Michael Pretterklieber ,&nbsp;Philippe Zysset","doi":"10.1016/j.bonr.2024.101752","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101752","url":null,"abstract":"<div><p>High-resolution peripheral quantitative computed tomography (HR-pQCT) based micro-finite element (μFE) analysis allows accurate prediction of stiffness and ultimate load of standardised (∼1 cm) distal radius and tibia sections. An alternative homogenized finite element method (hFE) was recently validated to compute the ultimate load of larger (∼2 cm) distal radius sections that include Colles' fracture sites. Since the mechanical integrity of the weight-bearing distal tibia is gaining clinical interest, it has been shown that the same properties can be used to predict the strength of both distal segments of the radius and the tibia. Despite the capacity of hFE to predict structural properties of distal segments of the radius and the tibia, the limitations of such homogenization scheme remain unclear. Therefore, the objective of this study is to build a complete mechanical data set of the compressive behavior of distal segments of the tibia and to compare quantitatively the structural properties with the hFE predictions. As a further aim, it is intended to verify whether hFE is also able to capture the post-yield strain localisation or fracture zones in such a bone section, despite the absence of strain softening in the constitutive model.</p><p>Twenty-five fresh-frozen distal parts of tibias of human donors were used in this study. Sections were cut corresponding to an in-house triple-stack protocol HR-pQCT scan, lapped, and scanned using micro computed tomography (μCT). The sections were tested in compression until failure, unloaded and scanned again in μCT. Volumetric bone mineral density (vBMD) and bone mineral content (BMC) were correlated to compression test results. hFE analysis was performed in order to compare computational predictions (stiffness, yield load and plastic deformation field pattern) with the compressive experiment. Namely, strain localization was assessed based on digital volume correlation (DVC) results and qualitatively compared to hFE predictions by comparing mid-slices patterns.</p><p>Bone mineral content (BMC) showed a good correlation with stiffness (R² = 0.92) and yield (R² = 0.88). Structural parameters also showed good agreement between the experiment and hFE for both stiffness (R² = 0.96, slope = 1.05 with 95 % CI [0.97, 1.14]) and yield (R² = 0.95, slope = 1.04 [0.94, 1.13]). The qualitative comparison between hFE and DVC strain localization patterns allowed the classification of the samples into 3 categories: bad (15 sections), semi (8), and good agreement (2).</p><p>The good correlations between BMC or hFE and experiment for structural parameters were similar to those obtained previously for the distal part of the radius. The failure zones determined by hFE corresponded to registration only in 8 % of the cases. We attribute these discrepancies to local elastic/plastic buckling effects that are not captured by the continuum-based FE approach exempt from strain s","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000196/pdfft?md5=1c996085a31ff4a54c97a986f15ee1c2&pid=1-s2.0-S2352187224000196-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140341724","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":"Fueling recovery: The importance of energy coupling between angiogenesis and osteogenesis during fracture healing","authors":"Fleur van Brakel,&nbsp;Yudong Zhao,&nbsp;Bram C.J. van der Eerden","doi":"10.1016/j.bonr.2024.101757","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101757","url":null,"abstract":"<div><p>Approximately half of bone fractures that do not heal properly (non-union) can be accounted to insufficient angiogenesis. The processes of angiogenesis and osteogenesis are spatiotemporally regulated in the complex process of fracture healing that requires a substantial amount of energy. It is thought that a metabolic coupling between angiogenesis and osteogenesis is essential for successful healing. However, how this coupling is achieved remains to be largely elucidated. Here, we will discuss the most recent evidence from literature pointing towards a metabolic coupling between angiogenesis and osteogenesis. We will describe the metabolic profiles of the cell types involved during fracture healing as well as secreted products in the bone microenvironment (such as lactate and nitric oxide) as possible key players in this metabolic crosstalk.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235218722400024X/pdfft?md5=02b00ef1763596f83b16252cac304472&pid=1-s2.0-S235218722400024X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140309773","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":"Protective role of exercise on breast cancer-related osteoporosis in women undergoing aromatase inhibitors: A narrative review","authors":"Claudia Cerulli ,&nbsp;Elisa Moretti ,&nbsp;Elisa Grazioli ,&nbsp;Gian Pietro Emerenziani ,&nbsp;Arianna Murri ,&nbsp;Eliana Tranchita ,&nbsp;Carlo Minganti ,&nbsp;Alessandra Di Cagno ,&nbsp;Attilio Parisi","doi":"10.1016/j.bonr.2024.101756","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101756","url":null,"abstract":"<div><p>Hormone therapy following surgery reduces the risk of breast cancer (BC) recurrence and progression of hormone-sensitive BC, especially in postmenopausal women. Despite the antitumor efficacy of hormone therapy, particularly of aromatase inhibitors, they cause long-term side effects, mainly bone density reduction. Exercise can slow the rate of bone loss, which reduces the risk of fractures from osteoporosis, and could be an integrative treatment able to mitigate the BC treatment side effects positively impacting bone health. This narrative review aims to discuss studies on the effect of exercise on bone health in BC women undergoing aromatase inhibitors, highlighting the possible role of exercise as complementary to conventional therapies. Additionally, according to the literature revision, exercise practical applications to improve bone health in these patients are summarized.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000238/pdfft?md5=8ef94065503523d307f6d3e8db9bd091&pid=1-s2.0-S2352187224000238-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140309820","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":"High rate of progression to symptomatic multiple myeloma in patients with smoldering myeloma and isolated osteoporotic vertebral fracture","authors":"Kevin Chevalier ,&nbsp;Sabrina Hamroun ,&nbsp;Samuel Bitoun ,&nbsp;Julien Henry ,&nbsp;Christian Roux ,&nbsp;Karine Briot ,&nbsp;Rakiba Belkhir ,&nbsp;Xavier Mariette ,&nbsp;Raphaèle Seror","doi":"10.1016/j.bonr.2024.101755","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101755","url":null,"abstract":"<div><p>Multiple myeloma (MM) frequently causes vertebral fractures (VF). Some are lytic lesions and others have the aspect of benign osteoporotic fractures not requiring anti-myeloma treatment. We explored outcome of these patients with smoldering myeloma (SM) and osteoporotic VF.</p><p>In this retrospective bi-centric study, patients were identified using a systematic keyword search on electronic medical records. Patients with SM and isolated VF of osteoporotic aspect without indications for myeloma-specific therapy were included.</p><p>Overall, 13 (7 %) of the 184 identified patients had SM and VF confirmed to be osteoporotic (median number of VF was 3). During follow-up, 12 (92 %) patients evolved to symptomatic MM, 7 (54 %) of them within 18 months (early progressors). Myeloma defining events were new lytic bone lesions in 7 patients (53.8 %). The serum calcium level was significantly higher in the early progressor group (median 2.35 IQR [2.31–2.38] and 2.28 IQR [2.21–2.29] respectively, <em>p</em> = 0.003). Early progressors had a higher number of VF at diagnosis (3.0 [2.0–5.5] vs 1.0 [1.0–2.5], <em>p</em> = 0.18) and more frequently evolved to symptomatic MM because of lytic bone lesions (5 [71 %] vs 2 [33 %], <em>p</em> = 0.13) compared to late progressors.</p><p>VF of osteoporotic appearance in the context of SM is a rare situation but at high risk of rapid progression to symptomatic MM, suggesting that they may represent bone fragility linked to MM infiltration rather than solely osteoporotic fractures. Further studies are needed to assess if earlier treatment might be beneficial in this population.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000226/pdfft?md5=afe87f7f94161630eeb982607eb0b5b0&pid=1-s2.0-S2352187224000226-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140290845","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":"Lessons learned from the real-world diagnosis and management of hereditary hypophosphatemic rickets","authors":"Deepti Chaturvedi ,&nbsp;Taif EmadEldin Mehasi ,&nbsp;Assia Benbrahim ,&nbsp;Lubna ElDeeb ,&nbsp;Asma Deeb","doi":"10.1016/j.bonr.2024.101753","DOIUrl":"10.1016/j.bonr.2024.101753","url":null,"abstract":"<div><p>Hypophosphatemic rickets, which is often hereditary, is still under- or misdiagnosed in both children and adults, denying these individuals access to optimal management and genetic counseling. There have been recent calls to compile real-world data and share best practice on these rare conditions to guide clinical decision-making. Here we present eight clinical vignettes of patients with hypophosphatemic rickets encountered in our tertiary pediatric endocrinology practice. We describe the clinical features, genetics, and management of four cases of X-linked hypophosphatemia (<em>PHEX</em> mutations), one each of autosomal recessive hypophosphatemic rickets (<em>DMP1</em> mutation) and autosomal recessive vitamin D-dependent rickets type 1A (<em>CYP27B1</em> mutation), and two cases of distal renal tubular acidosis with <em>FOXI1</em> mutation-associated hypophosphatemic rickets. Our cases prompt consideration of the (i) frequent misdiagnosis of hypophosphatemic rickets in clinical practice and the importance of comprehensive genetic testing; (ii) variable expressivity of the causative mutations; and (iii) a lack of responsiveness and/or compliance to conventional therapy and the value of burosumab in modern management, provided access is equitable. These cases highlight common real-world themes and challenges to managing patients presenting with these diverse conditions, especially the burden of disease hidden by misdiagnosis. In sharing these cases, we hope to raise awareness of these conditions, promote best practice in genetic diagnosis and management, and further advocate for reimbursement equity for the best available therapies.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2024-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000202/pdfft?md5=6dfd2cc5b734f76a4a725d477b1c9e6d&pid=1-s2.0-S2352187224000202-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140279518","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}