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How does bone recover in patients with tumor-induced osteomalacia? Long-term follow-up in a national cohort study. 肿瘤性骨软化患者的骨是如何恢复的?一项国家队列研究的长期随访。
IF 3.4
JBMR Plus Pub Date : 2025-04-14 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf041
María Belén Zanchetta, Fernando Jerkovich, Florencia Scioscia, Yamile Mocarbel, Analía Pignatta, Natalia Elías, Juan Manuel Roganovich, Carlos Vigovich, María Celeste Balonga, Ana Carolina Cohen, Giselle Mumbach, José Luis Mansur, Carolina Fux Otta, Walter Guillermo Douthat, Pilar Tartaglia, Griselda Cecchi, María Bastianello, Luisa Plantalech, Erich Fradinger, José Rubén Zanchetta
{"title":"How does bone recover in patients with tumor-induced osteomalacia? Long-term follow-up in a national cohort study.","authors":"María Belén Zanchetta, Fernando Jerkovich, Florencia Scioscia, Yamile Mocarbel, Analía Pignatta, Natalia Elías, Juan Manuel Roganovich, Carlos Vigovich, María Celeste Balonga, Ana Carolina Cohen, Giselle Mumbach, José Luis Mansur, Carolina Fux Otta, Walter Guillermo Douthat, Pilar Tartaglia, Griselda Cecchi, María Bastianello, Luisa Plantalech, Erich Fradinger, José Rubén Zanchetta","doi":"10.1093/jbmrpl/ziaf041","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf041","url":null,"abstract":"<p><p>Tumor-induced osteomalacia (TIO) is a rare disorder characterized by impaired bone mineralization due to phosphate wasting. Long-term changes in BMD and microarchitecture after surgical cure or medical therapy in TIO are not well understood. This study describes changes in BMD, microarchitecture, and bone strength in patients with TIO following surgical cure or medical therapy. A prospective cohort study included adults diagnosed with TIO from May 2018 to 2024, categorized into those with surgical cure and those on medical therapy. Follow-up assessments were classified as early (median 8 mo), intermediate (median 17 mo), and long-term (median 26 mo). Fifteen patients were included: seven achieved surgical cure, and eight remained on medical therapy. Lumbar spine BMD increased by +19% at early, +27% at intermediate, and +15% at long-term follow-up. Total hip BMD increased by +31%, +36%, and +31% at early, intermediate, and long-term assessments, respectively. All patients achieved a normal lumbar spine BMD, while 91% attained a normal total hip BMD. At the distal tibia, substantial increases in bone microarchitecture parameters-cortical area (Ct.Ar), cortical volumetric density (Ct.vBMD), and cortical thickness (Ct.Th)-were observed. Notably, Ct.Th improved to levels comparable to healthy controls. Bone strength improved by 13% but was not statistically significant, probably due to the small sample size. At the distal radius, most parameters remained stable. Patients with surgical cure showed more rapid and substantial improvements in BMD and cortical microarchitecture than non-cured patients, but these differences did not reach statistical significance. Overall, bone recovery in TIO is gradual, with gains in spine and hip BMD and significant improvements in tibial cortical parameters. However, some aspects of bone microarchitecture remained below control levels, underscoring the need for ongoing monitoring and individualized management strategies.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf041"},"PeriodicalIF":3.4,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010155/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001245","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}
引用次数: 0
Concerns about the paper, "Benefits of targeted vibration for bone strength and bone density in postmenopausal women with osteopenia: a randomized, sham-controlled trial". 对论文《针对绝经后骨质减少妇女的骨强度和骨密度的振动益处:一项随机、假对照试验》的关注。
IF 3.4
JBMR Plus Pub Date : 2025-04-06 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf051
Douglas P Kiel, Theresa A Guise, Maya Styner, Janet Rubin
{"title":"Concerns about the paper, \"Benefits of targeted vibration for bone strength and bone density in postmenopausal women with osteopenia: a randomized, sham-controlled trial\".","authors":"Douglas P Kiel, Theresa A Guise, Maya Styner, Janet Rubin","doi":"10.1093/jbmrpl/ziaf051","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf051","url":null,"abstract":"","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf051"},"PeriodicalIF":3.4,"publicationDate":"2025-04-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035689/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143996447","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}
引用次数: 0
AGN1 local osteo-enhancement procedure increases proximal femur volumetric bone mineral density of women with post-menopausal osteoporosis as assessed by quantitative computed tomography analysis. 通过定量计算机断层扫描分析评估,AGN1局部骨增强手术可增加绝经后骨质疏松症妇女股骨近端体积骨密度。
IF 3.4
JBMR Plus Pub Date : 2025-04-04 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf036
Michelle Chin, Ronald Hill, Bryan Huber, James Howe, Klaus Engelke
{"title":"AGN1 local osteo-enhancement procedure increases proximal femur volumetric bone mineral density of women with post-menopausal osteoporosis as assessed by quantitative computed tomography analysis.","authors":"Michelle Chin, Ronald Hill, Bryan Huber, James Howe, Klaus Engelke","doi":"10.1093/jbmrpl/ziaf036","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf036","url":null,"abstract":"<p><p>In this study, QCT was used to analyze the AGN1 Local Osteo-Enhancement Procedure (LOEP) as a treatment to form bone in the proximal femurs of patients with osteoporosis. Using this minimally invasive procedure, a resorbable triphasic AGN1 implant material was injected into the left femurs of 12 women with post-menopausal osteoporosis. Computed tomography scans were taken before treatment (baseline) and at 12 wk, 24 wk, and 5-7 yr after treatment. Quantitative computed tomography was used to investigate the resorption of AGN1 within the treated proximal femurs and to analyze the treatment's impact on integral, trabecular, and cortical bone. The untreated right femurs were used as controls. Data illustrated an increase in trabecular volumetric BMD (trab vBMD) of treated hips at all timepoints (baseline: 22 ± 21 mg/cm<sup>3</sup> vs 217 ± 56 mg/cm<sup>3</sup>, 161 ± 18 mg/cm<sup>3</sup>, and 121 ± 37 mg/cm<sup>3</sup> at 12-wk, 24-wk, and 5- to 7-yr timepoints, respectively), and an increase in integral vBMD of 65% at the 12-wk timepoint and 34% at the 5- to 7-yr timepoint. The increase in trab vBMD was observed in the location where the AGN1 implant material bolus was injected, and at the 5- to 7-yr timepoint, no significant BMD change was observed in the trabecular regions surrounding the original implantation zone (treated: 32 ± 16 mg/cm<sup>3</sup>, control: 31 ± 16 mg/cm<sup>3</sup>). This QCT study provides a more detailed understanding of the resorption and transformation of the AGN1 implant material into bone and supports, with some limitations, that the AGN1 LOEP treatment can locally increase trabecular bone density in weakened areas of the proximal femur where strength increase is most needed to reduce the risk of hip fragility fracture.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf036"},"PeriodicalIF":3.4,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035697/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035282","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}
引用次数: 0
Bone disease and osteoporosis associated with Pompe disease. 与庞贝病相关的骨病和骨质疏松症。
IF 3.4
JBMR Plus Pub Date : 2025-04-03 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf045
Lucas Maxey, Hannah Freibert, Auremil Quinonez, Hartmut Malluche, Madhumathi Rao
{"title":"Bone disease and osteoporosis associated with Pompe disease.","authors":"Lucas Maxey, Hannah Freibert, Auremil Quinonez, Hartmut Malluche, Madhumathi Rao","doi":"10.1093/jbmrpl/ziaf045","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf045","url":null,"abstract":"<p><p>Pompe disease is a lysosomal storage disorder defined by a mutation in the GAA gene encoding alpha-1,4-glucosidase alpha (acid maltase). Pompe disease encompasses a range of clinical presentations that are broadly characterized as either classic infantile Pompe disease or late-onset Pompe disease (LOPD). LOPD is a milder manifestation of the disease that presents after the first year of life and is typically characterized by mild proximal muscle weakness and lack of cardiac involvement compared to the classic infantile form. The mainstay of treatment is enzyme replacement therapy (EnRT). Decreased bone mineral density (BMD) is frequently encountered in LOPD. While bone loss is thought to be due to mechanical unloading secondary to the progressive muscle weakness associated with the disease, there is a lack of tissue-level data in support of this mechanism. We describe a 60-yr-old female with LOPD managed with EnRT who presented with proximal muscle weakness and decreased BMD on dual-energy X-ray absorptiometry. Undecalcified bone histology showed low turnover osteoporosis, and treatment was initiated with romosozumab. Romosozumab specifically may provide a promising osteoporosis therapy for LOPD-associated osteoporosis. As a sclerostin inhibitor, it both inhibits bone resorption and promotes new bone formation. We additionally emphasize that bone biopsy should be considered as a useful diagnostic tool in the evaluation of osteoporosis associated with uncommon pathologies, since bone histology provides more specific tissue-level information over clinical and laboratory evaluation as well as substantive guidance for treatment.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf045"},"PeriodicalIF":3.4,"publicationDate":"2025-04-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11994030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967481","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}
引用次数: 0
Response to Letter to the Editor for "Benefits of targeted vibration for bone strength and bone density in postmenopausal women with osteopenia: a randomized, sham-controlled trial". 针对“针对绝经后骨质减少妇女骨强度和骨密度的针对性振动的益处:一项随机、假对照试验”致编辑的回复。
IF 3.4
JBMR Plus Pub Date : 2025-04-01 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf050
Laura D Bilek, Michael J Jaasma
{"title":"Response to Letter to the Editor for \"Benefits of targeted vibration for bone strength and bone density in postmenopausal women with osteopenia: a randomized, sham-controlled trial\".","authors":"Laura D Bilek, Michael J Jaasma","doi":"10.1093/jbmrpl/ziaf050","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf050","url":null,"abstract":"","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf050"},"PeriodicalIF":3.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965895","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}
引用次数: 0
Obese-diabetic female Ksr2 knockout mice develop brittle bones near end of life. 患有肥胖糖尿病的Ksr2基因敲除的雌性小鼠在接近生命末期时骨骼变脆。
IF 3.4
JBMR Plus Pub Date : 2025-03-30 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf052
Gustavo A Gomez, Sasidhar Uppuganti, Sheila Pourteymoor, Jillian Bray, Jeffry S Nyman, Subburaman Mohan
{"title":"Obese-diabetic female <i>Ksr2</i> knockout mice develop brittle bones near end of life.","authors":"Gustavo A Gomez, Sasidhar Uppuganti, Sheila Pourteymoor, Jillian Bray, Jeffry S Nyman, Subburaman Mohan","doi":"10.1093/jbmrpl/ziaf052","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf052","url":null,"abstract":"<p><p>The influence of obesity and type 2 diabetes (T2D) on the skeleton is complex, with affected individuals having higher fracture risk despite having higher BMD. To evaluate how obesity and T2D affect skeletal health, we studied mice with disruption of a gene that regulates energy intake and expenditure, <i>Ksr2</i>, which results in reduced metabolic rate and severe insulin resistance in both mice and a subpopulation of humans. Relative to 28-wk-old littermate sibling controls, <i>Ksr2</i> mutants weighed more than double the body and fat weight. Moreover, leptin and insulin were elevated by 20- and 10-fold in <i>Ksr2</i> mutant serum, consistent with prior reports of a T2D state. Micro-computed tomography analysis revealed increased trabecular bone volume (BV) per total volume (TV) in the mutant's distal femur, proximal tibia, and vertebrae. While the bone size (cortical (Ct) cross-sectional bone area) was increased by 7%-11% at the mid-diaphysis of femurs and tibiae, Ct BV adjusted for TV was unaffected. Three-point bending tests revealed increased ultimate force to failure and ultimate bending stress at the mid-diaphysis of femurs by 13% and 8%, respectively in <i>Ksr2</i> mutants. However, bone toughness, a measure of bone quality that assesses how well Ct bone resists fracture, was reduced by 25%. To determine the cause of reduced bone quality in <i>Ksr2</i> mutants, we evaluated femurs for bone hydration by nuclear magnetic resonance relaxometry and found reduced pore water (20%) in <i>Ksr2</i> mutant femurs relative to controls. Moreover, analysis of hydrolysates from femurs for advanced glycation end products revealed a 14% increase in <i>Ksr2</i> mutants. Based on our data, we conclude that while bone density and strength are increased in mice with obesity-induced insulin resistance, bone toughness is compromised due to reduced bone tissue quality, thus suggesting therapeutics focused on improving bone tissue are needed to reduce fracture risk in obese patients.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf052"},"PeriodicalIF":3.4,"publicationDate":"2025-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035690/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967438","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}
引用次数: 0
Calcium isotope ratio in patients with monogenic bone diseases: a prospective, cross-sectional, single-center pilot study. 单基因骨病患者的钙同位素比值:一项前瞻性、横断面、单中心试点研究
IF 3.4
JBMR Plus Pub Date : 2025-03-18 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf032
Robert Munzinger, Felix N von Brackel, Mikolaj Bartosik, Florian Barvencik, Michael Amling, Ralf Oheim
{"title":"Calcium isotope ratio in patients with monogenic bone diseases: a prospective, cross-sectional, single-center pilot study.","authors":"Robert Munzinger, Felix N von Brackel, Mikolaj Bartosik, Florian Barvencik, Michael Amling, Ralf Oheim","doi":"10.1093/jbmrpl/ziaf032","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf032","url":null,"abstract":"<p><p>Stable calcium isotope fractions have long been related to the calcium metabolism in living organisms. The blood and urine proportions of calcium isotopes <sup>44</sup>Ca and <sup>42</sup>Ca (δ<sup>44/42</sup>Ca) have recently again attracted attention as a potential diagnostic tool in metabolic bone diseases, in particular osteoporosis. The hypothesis is that the lighter isotopes (Ca<sup>42</sup>) get incorporated into bone more quickly; hence, δ<sup>44/42</sup>Ca ratios in urine and serum are higher for bone formation and lower for resorption phases. Therefore, δ<sup>44/42</sup>Ca in blood and urine may serve as an indicator of bone metabolism, potentially reflecting bone density in general. We have conducted clinical characterization by means of laboratory assessment, bone densitometry, HRpQCT, and isotope analysis to test for the hypothesis in patients with monogenic bone diseases. We included 40 adult subjects with hereditary bone diseases, such as early-onset osteoporosis (<i>n</i> = 7), osteogenesis imperfecta (<i>n</i> = 12), hypophosphatasia (<i>n</i> = 12), and X-linked hypophosphatemia (XLH, <i>n</i> = 9), and controls (<i>n</i> = 17). Regression analyses revealed significant correlations of δ<sup>44/42</sup>Ca with Ca/creatinine<sub>urine</sub> (<i>R</i> <sup>2</sup> = 0.6200, <i>p</i> < .0001), and bone densitometric parameters were significantly correlated with δ<sup>44/42</sup>Ca (BMD: δ<sup>44/42</sup>Ca<sub>serum</sub>  <i>R</i> <sup>2</sup> = 0.2685, <i>p</i> ≤ .001; δ<sup>44/42</sup>Ca<sub>urine</sub>  <i>R</i> <sup>2</sup> = 0.3554; <i>p</i> < .0002). XLH differed significantly from the other diseases and controls by means of higher δ<sup>44/42</sup>Ca<sub>urine</sub>. Our results suggest that δ<sup>44/42</sup>Ca is strongly coupled to urinary calcium excretion in patients with hereditary bone diseases. Significant correlations with BMD suggest an interaction of δ<sup>44/42</sup>Ca and bone mass though it lacks discriminative power. Further studies are needed to evaluate the utility of δ<sup>44/42</sup>Ca in clinical practice.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf032"},"PeriodicalIF":3.4,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12009546/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990150","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}
引用次数: 0
Fracture risk by cortisol excess status in patients with adrenal incidentalomas: a population-based cohort study. 肾上腺偶发瘤患者皮质醇过量的骨折风险:一项基于人群的队列研究。
IF 3.4
JBMR Plus Pub Date : 2025-03-16 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf043
Annette L Adams, In-Lu Amy Liu, Iris Anne C Reyes, Hina Chowdhry, Richard Contreras, Yuqian M Gu, Mackenzie Crawford, Bennett McDonald, Joshua I Barzilay, Tish Villanueva, David A Katz, Frank S Czerwiec, Wansu Chen
{"title":"Fracture risk by cortisol excess status in patients with adrenal incidentalomas: a population-based cohort study.","authors":"Annette L Adams, In-Lu Amy Liu, Iris Anne C Reyes, Hina Chowdhry, Richard Contreras, Yuqian M Gu, Mackenzie Crawford, Bennett McDonald, Joshua I Barzilay, Tish Villanueva, David A Katz, Frank S Czerwiec, Wansu Chen","doi":"10.1093/jbmrpl/ziaf043","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf043","url":null,"abstract":"<p><p>Adrenal incidentalomas (AIs) may secrete excess cortisol, representing an elevated endogenous exposure to glucocorticoids, which could decrease bone mineral density and increase fracture risk. However, measurement of cortisol excess is not routinely done in patients with AI; thus, those with hormonally active AI at increased risk for fracture are under-identified. We sought to examine the association between excess cortisol levels and the incidence of fragility fracture in people with AI. This retrospective cohort study, conducted within two Kaiser Permanente regions (Southern California and Georgia), comprised women and men aged ≥50 yr with identified AI in the study period January 1, 2015-August 31, 2022. Patients' cortisol excess status was categorized by the type of test conducted (if any) and the test result. Fractures and relevant covariates were ascertained via International Classification of Diseases (ICD)-9/10 codes. Hazard ratios (HR) were estimated using Cox proportional hazard models with mortality as a competing risk. Among the cohort of 14 886 patients with AI, 273 (1.8%) had autonomous cortisol secretion (ACS) confirmed by dexamethasone suppression test (DST) results >1.8 μg/dL (>50 nmol/L), and another 201 (1.4%), tested with urine free or random cortisol tests, had results suggestive of excess cortisol production. Most of the cohort (<i>n</i> = 9353, 62.8%) were untested around AI diagnosis or during follow-up. Compared to patients with normal DST results (and adjusted for age, sex, race/ethnicity, and several other clinical characteristics), the estimated HR of fracture risk for patients with ACS (HR 1.42, CI 0.86-2.32), evidence of cortisol excess (1.41, 0.85-2.32), and untested patients (1.28, 0.88-1.87) were suggestive of elevated risk. However, none of the elevated hazard rates were statistically significant at the 95% significance level. The apparent elevated risk in the untested patients suggests that many untested patients may have hormonally active AI that puts them at risk for fracture from secondary osteoporosis.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf043"},"PeriodicalIF":3.4,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12036655/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144024168","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}
引用次数: 0
Burosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits. 布若单抗治疗儿童麦库恩-奥尔布赖特综合征/多骨增生纤维发育不良:挑战和益处
IF 3.4
JBMR Plus Pub Date : 2025-03-10 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf042
Sophia D Sakka, Danai Georgakopoulou, Artemis Doulgeraki, Andreas H Krieg, John Anastasopoulos, Gabor Szinnai, Christina Kanaka-Gantenbein
{"title":"Burosumab treatment of a child with McCune-Albright syndrome/polyostotic fibrous dysplasia: challenges and benefits.","authors":"Sophia D Sakka, Danai Georgakopoulou, Artemis Doulgeraki, Andreas H Krieg, John Anastasopoulos, Gabor Szinnai, Christina Kanaka-Gantenbein","doi":"10.1093/jbmrpl/ziaf042","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf042","url":null,"abstract":"<p><p>Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a rare condition caused by a mutation in the GNAS locus. Apart from endocrinopathies, some cases are characterized by excessive fibroblast growth factor 23 (FGF23) production from abnormal fibro-osseous tissue in FD lesions, resulting in increased renal phosphate excretion. We present a girl with FD/MAS and severe skeletal burden, evidenced by the presence of polyostotic fibrous dysplasia, which was complicated with bone fractures. She also had hyperthyroidism and GnRH-independent precocious puberty. She received zoledronic acid infusions in preparation for hip surgery. Despite optimal conventional management with oral phosphate and alphacalcidol, which was poorly tolerated, she presented persistent hypophosphatemia. To control hypophosphatemia and its deleterious effects on bone health, treatment with burosumab off-label at a dose of 0.66 mg/kg (20 mg) every 2 wk was initiated. Serum phosphate levels normalized within 2 wk of treatment. Laboratory results showed improvement in serum alkaline phosphatase (ALP) and PTH levels. After the second injection of burosumab, phosphate and PTH rose above the normal range with normal vitamin D levels; therefore, the interval between doses was increased to 3 wk, and calcium 500 mg daily was added. However, phosphate levels dropped again below normal range, so she had to return to 2-weekly injections of 20 mg. After 11 mo on burosumab, she remains with high normal phosphate levels and normal PTH and ALP values. Burosumab is well tolerated, with no adverse events to date. Burosumab is a human monoclonal antibody against FGF23 that reduces the risk of developing FGF23-mediated hypophosphatemia and its associated complications. Burosumab should be considered as an effective and safe alternative strategy for FGF23-mediated hypophosphatemia in FD/MAS for those who either cannot tolerate or do not respond to conventional therapy. To our knowledge, this is the fourth published case worldwide describing successful treatment with burosumab in FD/MAS.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf042"},"PeriodicalIF":3.4,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12035695/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967501","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}
引用次数: 0
Gallium-68-DOTATATE PET/CT for phosphaturic mesenchymal tumor localization in suspected tumor-induced osteomalacia. 镓-68- dotatate PET/CT对可疑肿瘤诱导的骨软化症的磷化间充质肿瘤定位。
IF 3.4
JBMR Plus Pub Date : 2025-03-09 eCollection Date: 2025-05-01 DOI: 10.1093/jbmrpl/ziaf040
Caroline W S Hoong, Jad G Sfeir, Matthew T Drake, Stephen M Broski
{"title":"Gallium-68-DOTATATE PET/CT for phosphaturic mesenchymal tumor localization in suspected tumor-induced osteomalacia.","authors":"Caroline W S Hoong, Jad G Sfeir, Matthew T Drake, Stephen M Broski","doi":"10.1093/jbmrpl/ziaf040","DOIUrl":"https://doi.org/10.1093/jbmrpl/ziaf040","url":null,"abstract":"<p><p>Gallium-68-DOTA-Tyr3-Octreotate (Ga-68-DOTATATE) positron emission tomography/computed tomography (PET/CT) has recently been shown to have utility for the localization of phosphaturic mesenchymal tumors (PMT) that cause tumor-induced osteomalacia (TIO), a rare renal phosphate-wasting disorder. The aim of this study was to evaluate the accuracy of Ga-68-DOTATATE PET/CT in localizing PMTs causing TIO and to compare its performance with other functional imaging modalities. Prospective recruitment and retrospective chart review of 30 patients with suspected TIO and evaluation with Ga-68-DOTATATE PET/CT between 2017 and 2023 were conducted at a tertiary medical center. True positive (TP) lesions were defined by histological confirmation of PMT. There were 22 TP lesions identified among 18 patients, with a mean SUV<sub>max</sub> of 16.8 (±10.9). Sensitivity, specificity, and accuracy of Ga-68-DOTATATE PET/CT were 85.7%, 77.8%, and 83.3% on patient-based analysis, and 84.6%, 56.3%, and 73.8% on lesion-based analysis. Lesions such as subacute fractures, parathyroid adenomas, thymus uptake, vertebral hemangiomas, bone enchondromas, liver hemangiomas, and avascular necrosis were some of the pitfalls in interpretation. Ga-68-DOTATATE PET/CT led to a significant impact on clinical management in 24 (80%) of patients. The presence of DOTATATE-avid fractures was significantly associated with a localizing scan on univariable (OR 15.0, 95% CI 2.80-110, <i>p</i> = .001) and multivariable analysis (OR 9.45, 95% CI 1.33-98.4, <i>p</i> = .003). Ga-68-DOTATATE PET/CT has good accuracy for the localization of TIO, with superior sensitivity compared to F-18-FDG PET/CT. This significantly impacted clinical treatment decisions. Although DOTATATE-avid fractures may be a source of false positives, they may also indicate a higher probability of a localizing study.</p>","PeriodicalId":14611,"journal":{"name":"JBMR Plus","volume":"9 5","pages":"ziaf040"},"PeriodicalIF":3.4,"publicationDate":"2025-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11995880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144010225","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}
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