Journal of Bone and Mineral Research最新文献

{"title":"The Journal of Bone and Mineral Research (JBMR) 40th anniversary celebration: the fourth decade (Part 2).","authors":"Rajesh V Thakker","doi":"10.1093/jbmr/zjag086","DOIUrl":"10.1093/jbmr/zjag086","url":null,"abstract":"","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":"41 7","pages":"689-696"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148358669","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotypic diversity in autosomal recessive hypophosphatemic rickets type 2.","authors":"Maimoona Al Qanoobi, Maryam Al Badi, Aisha Al Sinani, M Zulf Mughal","doi":"10.1093/jbmr/zjag029","DOIUrl":"10.1093/jbmr/zjag029","url":null,"abstract":"<p><p>Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) caused by biallelic ENPP1 mutations is a rare disorder with a broad phenotypic spectrum. We describe 3 affected siblings from a consanguineous family who presented with markedly heterogeneous clinical features. The proband exhibited classical signs of rickets with progressive lower-limb deformities, short stature, and elevated alkaline phosphatase. Her older sister demonstrated limited elbow extension, conductive hearing loss, and vascular stenoses, while the youngest sibling developed early biochemical abnormalities before overt skeletal manifestations of rickets emerged. All affected children had hypophosphatemia, reduced tubular maximum phosphate reabsorption per glomerular filtration rate, and elevated or inappropriately normal fibroblast growth factor 23 (FGF23) concentrations, consistent with FGF23-mediated phosphate wasting. Notably, plasma inorganic pyrophosphate levels were markedly reduced in the affected children and mildly reduced in the carriers of monoallelic mutation. Genetic testing identified a homozygous ENPP1 variant, c.2559_2561del p.(Leu854del), which was essential for establishing the diagnosis and distinguishing ARHR2 from other hereditary forms of hypophosphatemic rickets. The father had low LS BMD. These cases highlight the clinical heterogeneity of ENPP1 deficiency and reinforce the essential role of genetic testing in establishing the correct diagnosis.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"705-709"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146148499","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of muscle strength and functional power with longitudinal change in HR-pQCT bone parameters: the Osteoporotic Fractures in Men (MrOS) Study.","authors":"Nina Z Heilmann, Kerri S Freeland, Tong Yu, Paolo Caserotti, Andrew J Burghardt, Mary Winger Knueven, Bradley C Nindl, Kristine M Ruppert, Marcia L Stefanick, Mary L Bouxsein, Nancy E Lane, Jane A Cauley, Elsa S Strotmeyer","doi":"10.1093/jbmr/zjaf188","DOIUrl":"10.1093/jbmr/zjaf188","url":null,"abstract":"<p><p>Both bone and muscle function decline with age and are anatomically and functionally related. However, whether and to what extent muscle function (ie, strength and power) may predict longitudinal changes in bone microarchitecture and strength is unclear. The Osteoporotic Fractures in Men (MrOS) Study included assessments of peak jump power (W) from a force plate and maximum grip strength (kg) from a dynamometer, both normalized to body weight at visit 4 (2014-2016). We investigated the associations of jump power and grip strength with annual percent change in volumetric BMD, microarchitecture, and strength at the distal tibia (DT) and radius (DR) from HR-pQCT between visit 4 and visit 5 (2020-2022; 6.2 ± 0.6 yr follow-up; N = 225; age 82.8 ± 3.0 yr; 89% White). Mean jump power was 22.9 ± 5.6 W/kg and grip strength was 0.49 ± 0.1 kg/kg. During follow-up (median [IQR]), failure load (-0.88 [-1.71, -0.31]%), total BMD (-0.57 [-1.12, -0.18]%), cortical BMD (-1.24 [-2.03, -0.67]%), trabecular BMD (-0.05 [-0.47, 0.20]%), and trabecular thickness (-0.37 [-0.64, -0.12]%) declined at the DT, while at the DR, failure load (-1.02 [-2.19, -0.04]%), total BMD (-0.64 [-1.20, -0.18]%), and cortical BMD (-1.38 [-2.15, -0.71]%) declined (all p ≤ .05). Significant increases were observed for total area at both skeletal sites (DT: 0.04 [0.01, 0.08]%; DR: 0.07[-0.06, 0.16]%; both p ≤ .05). Multivariable linear regression models were adjusted for age, White race, clinic site, respective HR-pQCT initial values, percentage weight change, alcohol consumption, medication count, chronic disease history, falls, and hip pain. Higher grip strength was significantly associated with a smaller percent/year increase in total area at the DT (p ≤ .05) but not at the DR. Neither jump power nor grip strength was associated with change in failure load, BMD, or trabecular thickness at either skeletal site. Associations between grip strength and changes in tibial bone geometry provide insight into potential mechanisms for bone loss and targets for musculoskeletal interventions to reduce fracture risk.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"729-739"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12821768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145772868","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Osteonecrosis of the femoral head is associated with cytomegalovirus reactivation.","authors":"Rui Wang, Xuejiao Tian, Lin Shi, Zixuan Kong, Zhenzhen Wang, Lei Dong","doi":"10.1093/jbmr/zjaf205","DOIUrl":"10.1093/jbmr/zjaf205","url":null,"abstract":"<p><p>Osteonecrosis of the femoral head (ONFH) is a debilitating condition often leading to joint collapse. While corticosteroids use and alcohol consumption are known risk factors, the pathophysiology, especially in idiopathic cases, which account for one-third population, remains unclear. This study aimed to investigate the potential role of human cytomegalovirus (HCMV) reactivation in the pathogenesis of ONFH, focusing on its presence, distribution, and reactivation status. Blood and femoral head samples were obtained from ONFH patients and fracture controls. Human cytomegalovirus exposure was assessed through serology and viral DNA quantification, and reactivation was confirmed by gB immunohistochemistry and IE-1 mRNA RT-qPCR. Tissue samples from different regions of the femoral head (necrotic, transitional, and healthy zones) were analyzed for viral content, reactivation, and localization. Results showed significantly higher HCMV DNA levels in necrotic and transitional zones of ONFH, strongly correlated with lesion volume. Furthermore, gB localization was predominantly found in the microvascular structures, such as small vessels and capillaries, suggesting that HCMV reactivation may contribute to microvascular damage and ischemia. IE-1 transcripts, markers of viral reactivation, further confirmed reactivation. Notably, HCMV reactivation was observed across all ONFH etiologies-corticosteroid-related, alcohol-related, and idiopathic-indicating its broad involvement in ONFH progression. This study provides the first clinical evidence linking HCMV reactivation to ONFH, offering potential therapeutic avenues, including antiviral treatments, to address this condition.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"751-761"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145909677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor regarding \"The relationship between treatment-related changes in total hip BMD measured after 12, 18, and 24 mo and fracture risk reduction in osteoporosis clinical trials: the FNIH-ASBMR-SABRE project\".","authors":"Edwin Mora Garzón","doi":"10.1093/jbmr/zjag005","DOIUrl":"10.1093/jbmr/zjag005","url":null,"abstract":"","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"784-785"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145987340","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework.","authors":"Ryan F Webb, Hannah McCurry, Amanda Girod, Madeline Hughes, Emma Wilcox, Mayher Patel, Eleanor C Broeren, Kezang C Tshering, Marina DiStefano, Lorenzo D Botto, Lindsay C Burrage, Valérie Cormier-Daire, Juan Dong, Nadja Ehmke, Deborah Krakow, Shahida Moosa, Geert Mortier, Sandesh Nagamani, Loren Pena, Pedro A Sanchez-Lara, Andrea Superti-Furga, Sheila Unger, Danita Velasco, Matthew L Warman, Kerry Brown, Deepika D'Cunha Burkardt, Carlos R Ferreira","doi":"10.1093/jbmr/zjaf183","DOIUrl":"10.1093/jbmr/zjaf183","url":null,"abstract":"<p><p>More than 770 genetic skeletal disorders have been described, most with disease-causing variants reported in 1 of over 550 different genes. The ClinGen Skeletal Disorders Gene Curation Expert Panel was established to determine the strength of the evidence that supports specific gene-disease relationships (GDRs). Such information can assist clinical testing laboratories in choosing genes that should be included on diagnostic panels. Nine genes accounting for the most frequently encountered skeletal dysplasias (COL1A1, COL1A2, COL2A1, FGFR3, SLC26A2, TRPV4, COMP, ALPL, and SOX9) associated in the medical literature with 26 different skeletal disorders were reviewed using a semi-quantitative scoring framework. This framework is utilized by ClinGen to assess the clinical validity of GDRs. All 9 genes were \"definitively\" associated with at least 1 skeletal disorder and several were associated with multiple clinically or radiographically distinct skeletal conditions. Among these 26 GDRs, the ClinGen Skeletal Disorders Gene Curation Expert Panel determined that 22 (84.6%) had definitive relationships, 2 (7.7%) had moderate relationships, and 2 (7.7%) had limited relationships. None of the 26 GDRs were disputed or refuted. For moderate and limited GDRs, clinical and genetic reports from additional probands and their families are needed to upgrade these GDRs to definitive. Up-to-date assessments about the strength of the relationship between genes and phenotypes should improve the sensitivity and specificity of genetic testing in individuals with skeletal disease. The expert curations for the 9 aforementioned genes are published on the ClinGen website.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"717-728"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13192282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145627044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"From loci to cells: mapping variant function in bone and joint diseases.","authors":"Ryan C Chai","doi":"10.1093/jbmr/zjag105","DOIUrl":"https://doi.org/10.1093/jbmr/zjag105","url":null,"abstract":"","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":""},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148366205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Safety of low dose inpatient zoledronic acid in acute hip fracture patients with advanced chronic kidney disease.","authors":"Xiaoxu Sun, Benjamin Z Leder, Thuan V Ly, Esteban Franco-Garcia, Marcy B Bolster, WuQiang Fan","doi":"10.1093/jbmr/zjaf195","DOIUrl":"10.1093/jbmr/zjaf195","url":null,"abstract":"<p><p>Zoledronic acid (ZA), cleared renally, carries a higher nephrotoxicity risk at doses ≥4 mg, especially in patients with CKD. While 5 mg is standard for osteoporosis, ZA increases BMD at doses as low as 0.25 mg every 3 mo. Inpatient ZA (IP-ZA) in hip fracture patients reduces mortality and re-fracture risk, but its safety in those with advanced CKD (creatinine clearance rate (CrCl) < 35 mL/min) is unclear. We analyzed real-world data from a large academic healthcare system to assess the safety of reduced-dose IP-ZA (≤3 mg) in hip fracture patients with advanced CKD, compared to propensity-matched controls receiving no anti-osteoporosis medication during index hip fracture hospitalization. The study included 328 IP-ZA patients and 2308 controls, with a primary cohort of 46 IP-ZA patients and 98 matched untreated controls, predominantly female (77.8%), White (92.4%), with a mean age of 89.9 yr and CrCl of 31.1 ± 0.6 mL/min. The IP-ZA group received an average dose of 2.7 ± 0.1 mg (1 patient at 1 mg, 11 at 2 mg, 34 at 3 mg) on postoperative day 2.9 ± 0.3. All patients received standing acetaminophen, calcium (650-1000 mg/d), and vitamin D (1000-2500 IU/d) post-surgery. We monitored daily maximum body temperature, serum creatinine, and serum calcium for 5 d, starting the day before IP-ZA administration (or postoperative day 2 for controls). Inpatient-ZA did not affect temperature, with new-onset fever (≥38.0 °C, days 2-4) in 1 IP-ZA patient and 2 controls. Serum creatinine level remained stable. Serum calcium level in the IP-ZA group decreased from 8.8 ± 0.1 to 8.2 ± 0.2 mg/dL by day 5, unchanged in controls; no IP-ZA patient had serum calcium level <7.5 mg/dL. Hospital length-of-stay (6.2 ± 0.4 vs 6.5 ± 0.4 d, p = .41) and 30-d readmission rates were similar. This study suggests that reduced-dose IP-ZA is likely safe for patients with hip fracture and advanced CKD who are otherwise at high risk for being untreated.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"710-716"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145909673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Response to Letter to the Editor regarding \"The relationship between treatment-related changes in total hip BMD measured after 12, 18, and 24 mo and fracture risk reduction in osteoporosis clinical trials: the FNIH-ASBMR-SABRE project\".","authors":"Tatiane Vilaca, Marian Schini, Li-Yung Lui, Susan K Ewing, Austin R Thompson, Eric Vittinghoff, Douglas C Bauer, Richard Eastell, Dennis M Black, Mary L Bouxsein","doi":"10.1093/jbmr/zjag006","DOIUrl":"10.1093/jbmr/zjag006","url":null,"abstract":"","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":"786-788"},"PeriodicalIF":6.5,"publicationDate":"2026-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145996891","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increased Prevalence of Coronary Artery Calcification in Patients with Post-Surgical Hypoparathyroidism.","authors":"Sarah Thornhøj, Line Underbjerg, Lene Ring Madsen, Simon Wither, Morten Böttcher, Lars Rejnmark","doi":"10.1093/jbmr/zjag102","DOIUrl":"https://doi.org/10.1093/jbmr/zjag102","url":null,"abstract":"<p><p>Hypoparathyroidism is a rare disease characterized by hypocalcemia and deficient parathyroid hormone secretion. Cohort studies suggest a higher risk of cardiovascular disease. However, imaging-based assessment of coronary artery disease is limited. We aimed to characterize cardiovascular risk factors and coronary artery disease in 50 patients with chronic post-surgical hypoparathyroidism and 50 age- and sex-matched individuals from the general population, using coronary computed tomography angiography. The mean age of patients was 60 (range 31-84) years, 86% were female, and the median duration of hypoparathyroidism was 12 (range 5-49) years. Compared with controls, patients had a lower estimated glomerular filtration rate (78 vs. 83 mL/min, p = 0.04) and were more frequently treated with antihypertensive medication (56% vs. 36%, p = 0.05). Use of lipid-lowering therapy was more frequent (34% vs. 18%, p = 0.07). Prevalence of diabetes, smoking status, and arterial stiffness assessed by carotid-femoral wave velocity did not differ between groups. Angiography revealed coronary atherosclerotic plaques in 68% of patients, compared with 42% in controls (p < 0.01). This association remained significant after adjustment for sex, age, and presence of any cardiovascular risk factor, corresponding to a 24-percentage point higher prevalence of coronary atherosclerosis. Severe coronary artery disease (coronary artery calcium score ≥400) was present in 18% of patients versus 2% of controls (p = 0.02). Hypoparathyroidism was associated with increased odds of coronary calcification (coronary artery calcium score >0; OR 3.19, 95% CI 1.40-7.24, p < 0.01), independent of renal function. Compared with controls, patients had aortic valve calcification more often (29% vs. 8%, p<0.01) and calcifications of the ascending and descending aorta (34% vs. 8%, p<0.01). In conclusion, chronic post-surgical hypoparathyroidism is associated with an increased burden of atherosclerosis, which may explain the increased cardiovascular risk. Enhanced cardiovascular risk stratification and preventive strategies are warranted.</p>","PeriodicalId":185,"journal":{"name":"Journal of Bone and Mineral Research","volume":" ","pages":""},"PeriodicalIF":6.5,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148306245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}