Bone Reports最新文献

{"title":"Romosozumab rescues impaired bone mass and strength in a murine model of diabetic kidney disease","authors":"Rachel Kohler ,&nbsp;Dyann M. Segvich ,&nbsp;Olivia Reul ,&nbsp;Corinne E. Metzger ,&nbsp;Matthew R. Allen ,&nbsp;Joseph M. Wallace","doi":"10.1016/j.bonr.2024.101774","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101774","url":null,"abstract":"<div><p>As international incidence of diabetes and diabetes-driven comorbidities such as chronic kidney disease (CKD) continue to climb, interventions are needed that address the high-risk skeletal fragility of what is a complex disease state. Romosozumab (Romo) is an FDA-approved sclerostin inhibitor that has been shown to increase bone mineral density and decrease fracture rates in osteoporotic patients with mild to severe CKD, but its effect on diabetes-weakened bone is unknown. We aimed to test Romo's performance in a model of combined diabetes and CKD. 6-week old male C57BL/6 mice were randomly divided into control (CON) and disease model (STZ-Ad) groups, using a previously established streptozotocin- and adenine-diet-induced model. After 16 weeks of disease induction, both CON and STZ-Ad groups were subdivided into two treatment groups and given weekly subcutaneous injections of 100 μL vehicle (phosphorus buffered saline, PBS) or 10 mg/kg Romo. Mice were euthanized after 4 weeks of treatment via cardiac exsanguination and cervical dislocation. Hindlimb bones and L4 vertebrae were cleaned of soft tissue, wrapped in PBS-soaked gauze and stored at <img>20C. Right tibiae, femora, and L4s were scanned via microcomputed tomography; tibiae were then tested to failure in 4-pt bending while L4s were compression tested. Romo treatment significantly increased cortical and trabecular bone mass in both STZ-Ad and CON animals. These morphological improvements created corresponding increases in cortical bending strength and trabecular compression strength, with STZ-Ad treated mice surpassing vehicle CON mice in all trabecular mechanics measures. These results suggest that Romo retains its efficacy at increasing bone mass and strength in diabetic kidney disease.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101774"},"PeriodicalIF":2.5,"publicationDate":"2024-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235218722400041X/pdfft?md5=ea416e8e630909eaea0d537b01d2993c&pid=1-s2.0-S235218722400041X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140924461","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":"Tumor-induced osteomalacia: A systematic literature review","authors":"Noelia Álvarez-Rivas ,&nbsp;Gloria Lugo-Rodríguez ,&nbsp;Jose Ramón Maneiro ,&nbsp;Carlota Iñiguez-Ubiaga ,&nbsp;Rafael Benito Melero-Gonzalez ,&nbsp;Tania Iglesias-Cabo ,&nbsp;Loreto Carmona ,&nbsp;Carlos García-Porrúa ,&nbsp;Francisco Javier de Toro-Santos","doi":"10.1016/j.bonr.2024.101772","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101772","url":null,"abstract":"<div><h3>Introduction</h3><p>Tumor-induced osteomalacia (TIO), is a rare acquired paraneoplastic syndrome characterized by defective bone mineralization, caused by the overproduction of fibroblast growth factor 23 (FGF23) by a tumor.</p></div><div><h3>Material and methods</h3><p>We conducted a systematic review to identify all case reports of TIO, focusing on those associated with mesenchymal tumors. We followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) consensus, and we included patients with a diagnosis of TIO and histological confirmation of phosphaturic mesenchymal tumors or resolution of the condition after treatment of the tumor. Bibliographical searches were carried out until December 2023 in the Cochrane Library, Medline and Embase, as well as congress abstracts online.</p></div><div><h3>Results</h3><p>We identified 769 articles with 1979 cases reported. Most patients were adults, with a higher incidence on men. Disease duration before diagnosis is a mean of 4.8 years. Most tumors were histologically classified as PMT. Lower limbs were the predominant location. Hypophosphatemia was present in 99.8 % of patients. The FGF23 was elevated at diagnosis in 95.5 %. Resection of the tumor was the treatment of choice in most of patients. After resection, there was a clinical improvement in 97.6 % of cases, and serum phosphorus and FGF23 levels returned to normal ranges in 91.5 % and 81.4 % of the patients, respectively.</p></div><div><h3>Conclusion</h3><p>TIO is usually misdiagnosed with rheumatological or musculoskeletal disorders. The diagnosis should be suspected in patients with hypophosphatemic osteomalacia, and the measurement of serum FGF23 can be useful for diagnosis and management.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101772"},"PeriodicalIF":2.5,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000391/pdfft?md5=cb753f01d15a460d4afdac860703dfcf&pid=1-s2.0-S2352187224000391-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140909804","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":"Dairy consumption, bone turnover biomarkers, and osteo sono assessment index in Japanese adults: A cross-sectional analysis of data from the Iwaki Health Promotion Project","authors":"Ayatake Nakano ,&nbsp;Hiroshi M. Ueno ,&nbsp;Daisuke Kawata ,&nbsp;Yota Tatara ,&nbsp;Yoshinori Tamada ,&nbsp;Tatsuya Mikami ,&nbsp;Koichi Murashita ,&nbsp;Shigeyuki Nakaji ,&nbsp;Ken Itoh","doi":"10.1016/j.bonr.2024.101770","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101770","url":null,"abstract":"<div><h3>Purpose</h3><p>Dairy foods are nutritional sources of calcium, phosphorus, protein, and other nutrients that improve bone health. However, the effects of dairy consumption on bone biomarkers in the Japanese population remain unclear. This study explored the association between dairy consumption and bone biomarkers in Japanese adults.</p></div><div><h3>Methods</h3><p>This cross-sectional study was conducted as part of the Iwaki Health Promotion Project in Aomori, Japan. In total, 1063 adults were included in the analysis. Bone turnover marker levels were measured in local citizens during their annual medical checkups. The calcaneus osteo sono assessment index (OSI) was calculated using a quantitative ultrasound technique. The dietary intake of foods and nutrients was estimated using a food frequency questionnaire. Linear regression models were established using dairy consumption and bone biomarkers with adjustments. Statistic significance was considered by <em>P</em> &lt; 0.05.</p></div><div><h3>Results</h3><p>In multivariate models, the tartrate-resistant acid phosphatase 5b and parathyroid hormone concentrations were inversely associated with dietary dairy consumption after adjusting for age and sex. The undercarboxylated osteocalcin, a procollagen type I N-terminal peptide to bone alkaline phosphatase ratio, and OSI were the directly associated with dairy consumption in multivariate models with adjustment.</p></div><div><h3>Conclusions</h3><p>Dairy consumption is partially associated with bone turnover biomarkers and OSI in adult Japanese participants. Habitual consumption of dairy foods may contribute to the nutritional supplementation for maintaining bone health, including turnover and structure.</p></div><div><h3>Clinical trial registry number and website where it was obtained</h3><p>The Japanese Clinical Trials Registry (UMIN000040459), <span>https://center6.umin.ac.jp/cgi-open-bin/ctr/ctr_view.cgi?recptno=R000046175</span><svg><path></path></svg>.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101770"},"PeriodicalIF":2.5,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000378/pdfft?md5=542f65543d0ab872c53d9afb70b8df7b&pid=1-s2.0-S2352187224000378-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140824179","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":"Amyloid-β neuropathology induces bone loss in male mice by suppressing bone formation and enhancing bone resorption","authors":"Younghun Jung ,&nbsp;Birol Ay ,&nbsp;Sajin M. Cyr ,&nbsp;Christina M. Tognoni ,&nbsp;Kaitlin Klovdahl ,&nbsp;Julia Matthias ,&nbsp;Qiuxia Cui ,&nbsp;Daniel J. Brooks ,&nbsp;Mary L. Bouxsein ,&nbsp;Isabel Carreras ,&nbsp;Alpaslan Dedeoglu ,&nbsp;Murat Bastepe","doi":"10.1016/j.bonr.2024.101771","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101771","url":null,"abstract":"<div><p>Alzheimer's disease (AD) and osteoporosis often coexist in the elderly. Although observational studies suggest an association between these two diseases, the pathophysiologic link between AD and skeletal health has been poorly defined. We examined the skeletal phenotype of 5xFAD mice, an AD model with accelerated neuron-specific amyloid-β accumulation causing full-blown AD phenotype by the age of 8 months. Micro-computed tomography indicated significantly lower trabecular and cortical bone parameters in 8-month-old male, but not female, 5xFAD mice than sex-matched wild-type littermates. Dynamic histomorphometry revealed reduced bone formation and increased bone resorption, and quantitative RT-PCR showed elevated skeletal RANKL gene expression in 5xFAD males. These mice also had diminished body fat percentage with unaltered lean mass, as determined by dual-energy X-ray absorptiometry (DXA), and elevated <em>Ucp1</em> mRNA levels in brown adipose tissue, consistent with increased sympathetic tone, which may contribute to the osteopenia observed in 5xFAD males. Nevertheless, no significant changes could be detected between male 5xFAD and wild-type littermates regarding the serum and skeletal concentrations of norepinephrine. Thus, brain-specific amyloid-β pathology is associated with osteopenia and appears to affect both bone formation and bone resorption. Our findings shed new light on the pathophysiologic link between Alzheimer's disease and osteoporosis.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101771"},"PeriodicalIF":2.5,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S235218722400038X/pdfft?md5=cee78fd4fdd3044d001499bf290c013b&pid=1-s2.0-S235218722400038X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140824178","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":"Long-duration leptin transgene expression in dorsal vagal complex does not alter bone parameters in female Sprague Dawley rats","authors":"Russell T. Turner ,&nbsp;Adam J. Branscum ,&nbsp;Urszula T. Iwaniec","doi":"10.1016/j.bonr.2024.101769","DOIUrl":"10.1016/j.bonr.2024.101769","url":null,"abstract":"<div><p>The hypothalamus and dorsal vagal complex (DVC) are both important for integration of signals that regulate energy balance. Increased leptin transgene expression in either the hypothalamus or DVC of female rats was shown to decrease white adipose tissue and circulating levels of leptin and adiponectin. However, in contrast to hypothalamus, leptin transgene expression in the DVC had no effect on food intake, circulating insulin, ghrelin and glucose, nor on thermogenic energy expenditure. These findings imply different roles for hypothalamus and DVC in leptin signaling. Leptin signaling is required for normal bone accrual and turnover. Leptin transgene expression in the hypothalamus normalized the skeletal phenotype of leptin-deficient <em>ob</em>/<em>ob</em> mice but had no long-duration (≥10 weeks) effects on the skeleton of leptin-replete rats. The goal of this investigation was to determine the long-duration effects of leptin transgene expression in the DVC on the skeleton of leptin-replete rats. To accomplish this goal, we analyzed bone from three-month-old female rats that were microinjected with recombinant adeno-associated virus encoding either rat leptin (rAAV-Leptin, <em>n</em> = 6) or green fluorescent protein (rAAV-GFP, control, <em>n</em> = 5) gene. Representative bones from the appendicular (femur) and axial (3rd lumbar vertebra) skeleton were evaluated following 10 weeks of treatment. Selectively increasing leptin transgene expression in the DVC had no effect on femur cortical or cancellous bone microarchitecture. Additionally, increasing leptin transgene expression had no effect on vertebral osteoblast-lined or osteoclast-lined bone perimeter or marrow adiposity. Taken together, the findings suggest that activation of leptin receptors in the DVC has minimal specific effects on the skeleton of leptin-replete female rats.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101769"},"PeriodicalIF":2.5,"publicationDate":"2024-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000366/pdfft?md5=f2410a7092e4108b0036f33dd6456e03&pid=1-s2.0-S2352187224000366-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140761199","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":"Rare coexistence of hypopituitarism with osteogenesis imperfecta – A double-trouble for bone","authors":"Rajdeep Basu,&nbsp;Soumik Goswami,&nbsp;Nilanjan Sengupta,&nbsp;Arjun Baidya,&nbsp;Sunetra Mondal,&nbsp;Kumar Swapnil,&nbsp;Rajat Deb,&nbsp;Vibhu Ranjan Khare,&nbsp;Joydip Datta","doi":"10.1016/j.bonr.2024.101768","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101768","url":null,"abstract":"<div><p>Osteogenesis imperfecta (OI) commonly involving defects in COL1A1 and COL1A2 is a rare hereditary disease of bone fragility affecting 6–7 per 100,000 population. On the other hand, hypopituitarism is a separate entity that manifests with reduced levels of pituitary hormones. The cooccurrence of these two is seldom reported previously in literature as a deviation from Occam's razor. Here, we reported a case of pathological fracture in a 31-year-old male who had blue sclera and secondary adrenal insufficiency, hypogonadotropic hypogonadism, and growth hormone deficiency along with primary autoimmune hypothyroidism. Diagnosis of OI was suggested by heterozygous missense variant in exon 40 of the COL1A2 gene (chr7: g.94423092G &gt; A; Depth: 99×) that resulted in the amino acid substitution of Serine for Glycine at codon 847. Replacement of glucocorticoid, levothyroxine, and testosterone was started along with antiresorptive therapy for better bone health outcomes.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101768"},"PeriodicalIF":2.5,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000354/pdfft?md5=e5bfc2857a237593bef2a7c7edf4ebd8&pid=1-s2.0-S2352187224000354-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140644316","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":"Do Paralympic athletes suffer from brittle bones? Prevalence and risk factors of low bone mineral density in Paralympic athletes","authors":"Vera C.R. Weijer ,&nbsp;Jan-Willem van Dijk ,&nbsp;Lotte van Dam ,&nbsp;Linn Risvang ,&nbsp;Judith Bons ,&nbsp;Truls Raastad ,&nbsp;Luc J.C. van Loon ,&nbsp;Kristin L. Jonvik","doi":"10.1016/j.bonr.2024.101767","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101767","url":null,"abstract":"<div><h3>Background</h3><p>Bone health may be a concern in Paralympic athletes, given the presence of multiple risk factors predisposing these athletes to low bone mineral density (BMD). Objective: We aimed to assess the prevalence of low BMD among Paralympic athletes participating in various sport disciplines, and to identify potential risk factors for low BMD.</p></div><div><h3>Methods</h3><p>Seventy Paralympic athletes, of whom 51 % were wheelchair-dependent, were included in this cross-sectional study. BMD of the whole-body, lumbar spine, total hip, and femoral neck were assessed by dual-energy x-ray absorptiometry. Comparisons between groups were conducted by one-way ANOVA, and regression analyses were conducted to identify potential risk factors for low BMD.</p></div><div><h3>Results</h3><p>The prevalence of low BMD (<em>Z</em>-score &lt; −1.0) was highest at femoral neck (34 %), followed by total hip (31 %), whole-body (21 %), and lumbar spine (18 %). Wheelchair-dependent athletes had significantly lower BMD Z-scores compared to the non-wheelchair-dependent athletes at whole-body level (−0.5 ± 1.4 vs 0.2 ± 1.3; <em>P</em> = 0.04), total hip (−1.1 ± 1.2 vs 0.0 ± 1.1; <em>P</em> &lt; 0.01), and femoral neck (−1.0 ± 1.3 vs −0.1 ± 1.2; <em>P</em> &lt; 0.01). At the lumbar spine, low BMD was completely absent in wheelchair basketball and tennis players. Regression analyses identified body mass, wheelchair dependence, and type of sport, as the main risk factors for low BMD.</p></div><div><h3>Conclusions</h3><p>In this cohort of Paralympic athletes, low BMD is mainly present at the hip, and to a lesser extent at the whole-body and lumbar spine. The most prominent risk factors for low BMD in Paralympic athletes are related to mechanical loading patterns, including wheelchair use, the type of sport, and body mass.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101767"},"PeriodicalIF":2.5,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000342/pdfft?md5=e7b9ed8799d8b76438001500ac5f0f86&pid=1-s2.0-S2352187224000342-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140632821","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":"Increase in lumbar spine but not distal radius bone mineral density in adults after pancreas kidney transplantation","authors":"Simona Kratochvílová ,&nbsp;Klara Maratova ,&nbsp;Zdenek Sumnik ,&nbsp;Jana Brunová ,&nbsp;Zdeněk Hlávka ,&nbsp;Peter Girman ,&nbsp;František Saudek ,&nbsp;Ondrej Soucek","doi":"10.1016/j.bonr.2024.101764","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101764","url":null,"abstract":"<div><p>Osteoporosis occurs in every third individual after simultaneous pancreas kidney transplantation (SPKT). Currently used bone measures insufficiently predict their fracture risk. Lumbar spine Trabecular bone score (TBS) and distal radius areal and volumetric bone mineral density (BMD) were monitored for the first time in patients with type 1 diabetes and chronic renal failure after SPKT with steroid-sparing protocol. In 33 subjects (mean age 43.4 ± 9.8 years), dual-energy X-ray absorptiometry and peripheral quantitative computed tomography were performed just after SPKT (baseline) and one and three years later. While TBS <em>Z</em>-scores increased (−1.1 ± 1.2 and −0.3 ± 1.0; p˂0.001, at baseline and year three, respectively), trabecular volumetric BMD <em>Z</em>-scores at distal radius metaphysis did not change during the study (−1.3 ± 1.3 and −1.3 ± 1.0; <em>p</em> = 0.38). Similarly, areal BMD <em>Z</em>-scores increased at lumbar spine, total hip and femoral neck (all <em>p</em> &lt; 0.01), but not at the distal radius. SPKT induced bone measures' improvement at lumbar spine and hip but not at distal radius. Before suggesting changes in current clinical care, predictive value of individual bone measures or its combination for fracture risk assessment remains to be elucidated.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101764"},"PeriodicalIF":2.5,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000317/pdfft?md5=ea1669cb216b320a782fc48940361f42&pid=1-s2.0-S2352187224000317-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140620738","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 novel entity of massive multifocal osteolyses in the elderly","authors":"Patrick Orth ,&nbsp;Phillip Rolf Stahl ,&nbsp;Wolfgang Tränkenschuh ,&nbsp;Daniel Baumhoer ,&nbsp;Tim Kehl ,&nbsp;Hans-Peter Lehnhof ,&nbsp;Günther Schneider ,&nbsp;Eckart Meese ,&nbsp;Henning Madry ,&nbsp;Ulrike Fischer","doi":"10.1016/j.bonr.2024.101765","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101765","url":null,"abstract":"<div><p>Osteolyses are common findings in elderly patients and most frequently represent malignant or locally aggressive bone tumors, infection, inflammatory and endocrine disorders, histiocytoses, and rare diseases such as Gorham-Stout syndrome. We here report on a novel entity of massive multifocal osteolyses in both shoulders, the right hip and left knee joint and the dens of an 83-year-old patient not relatable to any previously known etiopathology of bone disorders. The soft tissue mass is of myxoid stroma with an unspecific granulomatous inflammatory process, aggressively destroying extensive cortical and cancellous bone segments and encroaching on articulating bones in diarthrodial large joints. Radiological, nuclear medical, serological, histological, and immunohistochemical analyses were incapable of further classifying the disease pattern within the existing scheme of pathology. Quantitative polymerase chain reaction and next generation sequencing revealed that mutations are not suggestive of any known hereditary or acquired bone disease. Possible treatment options include radionuclide therapy for pain palliation and percutaneous radiation to arrest bone resorption while surgical treatment is inevitable for pathological fractures. This case study shall increase the awareness of the musculoskeletal community and motivate to collect further information on this rare but mutilating disorder.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101765"},"PeriodicalIF":2.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000329/pdfft?md5=2c37f5fe7d7f57bda56819ad12e905ff&pid=1-s2.0-S2352187224000329-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140617986","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":"IFITM5-related (type V) osteogenesis imperfecta with evidence of perinatal involvement: A case report","authors":"Valentina Martínez-Montoya ,&nbsp;Miguel Angel Fonseca-Sánchez ,&nbsp;Gerardo Fabian-Morales ,&nbsp;Ramiro Vega-Gamas ,&nbsp;Gloria Eugenia Queipo-García ,&nbsp;Luis Felipe León-Madero ,&nbsp;Luz María Sánchez-Sánchez","doi":"10.1016/j.bonr.2024.101766","DOIUrl":"https://doi.org/10.1016/j.bonr.2024.101766","url":null,"abstract":"<div><p>Osteogenesis imperfecta (OI) is a rare hereditary disorder characterized by bone fragility and frequent fractures. While most cases are attributed to variations in collagen-coding genes <em>COL1A1</em> and <em>COL1A2</em>, other genes such as <em>IFITM5</em> have also been associated with the disease, accounting for up to 5 % of cases. Here, we report a case of a 3-month-old female with a femur fracture and limb deformity. X-rays revealed evidence of osteopenia and previous fractures in the arms, clavicle, ribs, and left limb, alongside prenatal bone deformities detected by ultrasound. Initial clinical evaluation suggested progressively deforming (Sillence's type III) osteogenesis imperfecta (OI). Molecular testing led to the diagnosis of <em>IFITM5</em>-related OI, identifying the c.-14C&gt;T (rs587776916) variant. Although this variant has been previously reported in patients with <em>IFITM5</em>-related OI, prenatal involvement had not been associated with this variant.</p></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"21 ","pages":"Article 101766"},"PeriodicalIF":2.5,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2352187224000330/pdfft?md5=cd27d189816350292a35c274b2872393&pid=1-s2.0-S2352187224000330-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140617987","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}