SGMS2 mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man with a three-generation family history of recurrent fragility fractures and diffuse high bone mass. He was found to have a heterozygous frameshift variant c.1052_1074dup in the SGMS2 gene.
Our case highlights a novel genetic mutation in the SGMS2 gene and reports the first family of SGMS2 mutation with high bone mass.
{"title":"A novel SGMS2 mutation associated with high bone mass; description of an affected family with recurrent fragility fractures","authors":"Shinjan Patra , Sweekruti Jena , Ketki Kedar , Minal Pande , Kishore K Katam , Ashka Prajapti , Udhaya Kotecha , Parin Vyas","doi":"10.1016/j.bonr.2025.101833","DOIUrl":"10.1016/j.bonr.2025.101833","url":null,"abstract":"<div><div><em>SGMS2</em> mutation can present with childhood-onset low bone mass and recurrent fragility fractures. We report a 25-year-old man with a three-generation family history of recurrent fragility fractures and diffuse high bone mass. He was found to have a heterozygous frameshift variant c.1052_1074dup in the SGMS2 gene.</div><div>Our case highlights a novel genetic mutation in the <em>SGMS2</em> gene and reports the first family of <em>SGMS2</em> mutation with high bone mass.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101833"},"PeriodicalIF":2.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143563233","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}
Pub Date : 2025-02-20DOI: 10.1016/j.bonr.2025.101831
Tongxin Zhu, Zhangyan Xu, Dan Liu, Wei Zeng, Yongliang Pu, Haitao Yang
Objectives
To investigate the effect of lumbosacral transitional vertebra (LSTV) on the biomechanical properties of adjacent discs and facet joints based on geometrically 3D personalized FEA.
Methods
A total of 45 individuals who underwent low dose whole body CT scans were retrospectively included and equally divided into 23, 24, and 25 presacral vertebrae (PSV) groups. Three-dimensional Finite Element computational models of normal and number-variant sub-types of LSTV were created. The biomechanical parameters, including the range of motion (ROM), the intervertebral disc pressure (IDP), and facet joint forces (FJF), were all evaluated to determine the biomechanical effects. IDP was equally divided into anterior (AIDP), middle (MIDP) and posterior (PIDP) parts along the short axis of the intervertebral disc.
Results
During extension, the 23 PSV group exhibited significantly higher von Meiss stress in the upper intervertebral disc compared to the 24 and 25 PSV groups (P = 0.003), indicating concentrated stress in the upper lumbar region and an increased the likelihood of localized disc degeneration over time. Furthermore, the 23 PSV group exhibited a larger ROM (3.28°) than the 25 PSV group (1.40°) (P = 0.011), implying greater segmental mobility and possible instability in the transitional segment. During flexion, the 25 PSV group showed higher stress in the lower intervertebral disc and a larger ROM than the 23 and 24 PSV groups; however, the differences were not significant (P > 0.05).
Conclusions
The increased stress distribution and ROM in the upper disc of the transitional segment were only found in the 23 PSV sub-type of Castellvi type I LSTVs during extension, but not in the 25 PSV sub-type, which may help to further understand the impact of LSTV on the surrounding structures.
{"title":"Biomechanical influence of numerical variants of lumbosacral transitional vertebra with Castellvi type I on adjacent discs and facet joints based on 3D finite element analysis","authors":"Tongxin Zhu, Zhangyan Xu, Dan Liu, Wei Zeng, Yongliang Pu, Haitao Yang","doi":"10.1016/j.bonr.2025.101831","DOIUrl":"10.1016/j.bonr.2025.101831","url":null,"abstract":"<div><h3>Objectives</h3><div>To investigate the effect of lumbosacral transitional vertebra (LSTV) on the biomechanical properties of adjacent discs and facet joints based on geometrically 3D personalized FEA.</div></div><div><h3>Methods</h3><div>A total of 45 individuals who underwent low dose whole body CT scans were retrospectively included and equally divided into 23, 24, and 25 presacral vertebrae (PSV) groups. Three-dimensional Finite Element computational models of normal and number-variant sub-types of LSTV were created. The biomechanical parameters, including the range of motion (ROM), the intervertebral disc pressure (IDP), and facet joint forces (FJF), were all evaluated to determine the biomechanical effects. IDP was equally divided into anterior (AIDP), middle (MIDP) and posterior (PIDP) parts along the short axis of the intervertebral disc.</div></div><div><h3>Results</h3><div>During extension, the 23 PSV group exhibited significantly higher von Meiss stress in the upper intervertebral disc compared to the 24 and 25 PSV groups (<em>P</em> = 0.003), indicating concentrated stress in the upper lumbar region and an increased the likelihood of localized disc degeneration over time. Furthermore, the 23 PSV group exhibited a larger ROM (3.28°) than the 25 PSV group (1.40°) (<em>P</em> = 0.011), implying greater segmental mobility and possible instability in the transitional segment. During flexion, the 25 PSV group showed higher stress in the lower intervertebral disc and a larger ROM than the 23 and 24 PSV groups; however, the differences were not significant (<em>P</em> > 0.05).</div></div><div><h3>Conclusions</h3><div>The increased stress distribution and ROM in the upper disc of the transitional segment were only found in the 23 PSV sub-type of Castellvi type I LSTVs during extension, but not in the 25 PSV sub-type, which may help to further understand the impact of LSTV on the surrounding structures.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101831"},"PeriodicalIF":2.1,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143480616","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}
Pub Date : 2025-02-13DOI: 10.1016/j.bonr.2025.101830
Yunlong Zhang, Zhichang Zhang
Background
Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma with an extremely low incidence and prevalence, particularly in children. We report the case of a 9-year-old girl diagnosed with EHE. There are limited reconstruction methods available following total talus resection for vascular endothelioma of the talus, and the use of a 3D-printed talus prosthesis in pediatric cases has not been previously documented.
Case presentation
A 9-year-old girl presented to our unit with swelling, pain, and limited mobility of the ankle for one month without an obvious cause. X-ray and CT imaging revealed osteolytic lesions in the talus, which was identified as a low-grade malignant tumor that had nearly completely invaded the talus and was surrounded by immature bone. The American Foot and Ankle Surgery Association (AOFAS) score was 75/100. We performed a total resection of the talus followed by unrestricted talus replacement. Three months post-operation, the child was able to walk unaided. Ankle function was assessed at 6 and 13 months post-surgery, with the AOFAS score improving from 75 to 91, indicating that her functional needs for daily life were largely met.
Conclusion
Following complete excision of the lesion, the immature bone surrounding the talus was successfully preserved using an unrestricted 3D-printed prosthesis during ankle reconstruction. Our patient demonstrated satisfactory ankle function during the 6-month follow-up. This method is both safe and stable, yielding promising results, particularly for juvenile patients.
{"title":"Total talectomy and reconstruction using unrestricted 3D printed prosthesis for pediatric talus hemangioendothelioma","authors":"Yunlong Zhang, Zhichang Zhang","doi":"10.1016/j.bonr.2025.101830","DOIUrl":"10.1016/j.bonr.2025.101830","url":null,"abstract":"<div><h3>Background</h3><div>Epithelioid hemangioendothelioma (EHE) is an ultra-rare vascular sarcoma with an extremely low incidence and prevalence, particularly in children. We report the case of a 9-year-old girl diagnosed with EHE. There are limited reconstruction methods available following total talus resection for vascular endothelioma of the talus, and the use of a 3D-printed talus prosthesis in pediatric cases has not been previously documented.</div></div><div><h3>Case presentation</h3><div>A 9-year-old girl presented to our unit with swelling, pain, and limited mobility of the ankle for one month without an obvious cause. X-ray and CT imaging revealed osteolytic lesions in the talus, which was identified as a low-grade malignant tumor that had nearly completely invaded the talus and was surrounded by immature bone. The American Foot and Ankle Surgery Association (AOFAS) score was 75/100. We performed a total resection of the talus followed by unrestricted talus replacement. Three months post-operation, the child was able to walk unaided. Ankle function was assessed at 6 and 13 months post-surgery, with the AOFAS score improving from 75 to 91, indicating that her functional needs for daily life were largely met.</div></div><div><h3>Conclusion</h3><div>Following complete excision of the lesion, the immature bone surrounding the talus was successfully preserved using an unrestricted 3D-printed prosthesis during ankle reconstruction. Our patient demonstrated satisfactory ankle function during the 6-month follow-up. This method is both safe and stable, yielding promising results, particularly for juvenile patients.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101830"},"PeriodicalIF":2.1,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143422503","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}
Pub Date : 2025-02-11DOI: 10.1016/j.bonr.2025.101829
Hye Kyoung Lee , Geneva Rose Notario , Sun Young Won , Jung Hwan Kim , Su Min Lee , Ha Seong Kim , Sung-Rae Cho
Osteoporosis following stroke is a significant impediment to patient recovery. Decreased mechanical loading and locomotion following the onset of paralysis in stroke patients, especially those who are non-ambulatory, contributes greatly to bone loss. Sclerostin, a protein encoded by the SOST gene, accumulates as a result of reduced mechanical loading and inhibits bone formation. This study explores the relationship between mechanical unloading, sclerostin levels, and bone mineral density (BMD) in stroke patients, utilizing three cohorts. Analysis of Cohort 1, consisting of patients with available sclerostin level measurements, found significantly elevated sclerostin levels in non-ambulatory patients compared to ambulatory patients, indicating the influence of ambulatory status on sclerostin regulation. Cohort 2, consisting of patients with BMD measurements, demonstrated that prolonged mechanical unloading in non-ambulatory patients resulted in a greater decline in BMD over time. Analysis in Cohort 3 patients, who had bilateral BMD measurements available, revealed that hemiplegic sides subjected to reduced mechanical loading exhibited lower BMD compared to non-hemiplegic sides. These findings collectively confirm the hypothesis that reduced mechanical loading elevates sclerostin levels and accelerates bone loss. By integrating data across the three cohorts, this study underscores the critical impact of mechanical unloading on bone health, particularly in chronic stroke patients with limited mobility. Our study provides clinical insights for treatments integrating ambulatory status, sclerostin levels, and BMD in chronic stroke patients and highlights an increased need for therapeutics targeting mechanical loading pathways and sclerostin accumulation which can be administered to treat chronic osteoporosis following stroke.
{"title":"Elevated sclerostin levels contribute to reduced bone mineral density in non-ambulatory stroke patients","authors":"Hye Kyoung Lee , Geneva Rose Notario , Sun Young Won , Jung Hwan Kim , Su Min Lee , Ha Seong Kim , Sung-Rae Cho","doi":"10.1016/j.bonr.2025.101829","DOIUrl":"10.1016/j.bonr.2025.101829","url":null,"abstract":"<div><div>Osteoporosis following stroke is a significant impediment to patient recovery. Decreased mechanical loading and locomotion following the onset of paralysis in stroke patients, especially those who are non-ambulatory, contributes greatly to bone loss. Sclerostin, a protein encoded by the SOST gene, accumulates as a result of reduced mechanical loading and inhibits bone formation. This study explores the relationship between mechanical unloading, sclerostin levels, and bone mineral density (BMD) in stroke patients, utilizing three cohorts. Analysis of Cohort 1, consisting of patients with available sclerostin level measurements, found significantly elevated sclerostin levels in non-ambulatory patients compared to ambulatory patients, indicating the influence of ambulatory status on sclerostin regulation. Cohort 2, consisting of patients with BMD measurements, demonstrated that prolonged mechanical unloading in non-ambulatory patients resulted in a greater decline in BMD over time. Analysis in Cohort 3 patients, who had bilateral BMD measurements available, revealed that hemiplegic sides subjected to reduced mechanical loading exhibited lower BMD compared to non-hemiplegic sides. These findings collectively confirm the hypothesis that reduced mechanical loading elevates sclerostin levels and accelerates bone loss. By integrating data across the three cohorts, this study underscores the critical impact of mechanical unloading on bone health, particularly in chronic stroke patients with limited mobility. Our study provides clinical insights for treatments integrating ambulatory status, sclerostin levels, and BMD in chronic stroke patients and highlights an increased need for therapeutics targeting mechanical loading pathways and sclerostin accumulation which can be administered to treat chronic osteoporosis following stroke.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101829"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143685344","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}
Pub Date : 2025-01-25DOI: 10.1016/j.bonr.2025.101828
Troy B. Puga , McKenna W. Box , Vincent M. Dieu , Charles R. Marchese , John T. Riehl
Introduction
Heterotopic ossification (HO) is a somewhat common occurrence after total hip arthroplasty (THA), particularly with certain approaches. This complication can be detrimental to the success of the surgical outcome. Indomethacin and radiotherapy remain common treatment modalities; however, no true gold-standard treatment is universally agreed upon. This study aims to evaluate Level I and Level II evidence for treatment practices of HO prophylaxis since 2000.
Methods
To evaluate HO prophylaxis in total hip arthroplasty, a search was conducted across MEDLINE/Pubmed, Cochrane, and Embase databases using keywords and Medical Subject Heading (MeSH) terms. Titles and abstracts were screened for eligibility for inclusion criteria. Full texts were screened and included if they met eligibility criteria.
Results
HO chemical prophylaxis was more effective than no HO prophylaxis, except for aspirin. Multiple NSAIDs showed equivalence and better side effect profiles than indomethacin. No one superior NSAID was found, and numerous modalities showed efficacy. The most effective dosages of radiation therapy and combination therapy remain unclear. Additionally, both etidronate and salmon calcitonin showed benefit in preventing HO in one study each.
Conclusion
Radiation, NSAIDs, and combination therapy all showed efficacy as HO prophylaxis modalities. HO prophylaxis treatment and modalities should be guided upon patient and surgical factors such as surgical approach, side effects and tolerability of modalities, comorbidities, and available facility resources to optimize the prevention of HO.
{"title":"Heterotopic ossification (HO) prophylaxis in total hip arthroplasty (THA): A systematic review of level I and level II evidence since 2000","authors":"Troy B. Puga , McKenna W. Box , Vincent M. Dieu , Charles R. Marchese , John T. Riehl","doi":"10.1016/j.bonr.2025.101828","DOIUrl":"10.1016/j.bonr.2025.101828","url":null,"abstract":"<div><h3>Introduction</h3><div>Heterotopic ossification (HO) is a somewhat common occurrence after total hip arthroplasty (THA), particularly with certain approaches. This complication can be detrimental to the success of the surgical outcome. Indomethacin and radiotherapy remain common treatment modalities; however, no true gold-standard treatment is universally agreed upon. This study aims to evaluate Level I and Level II evidence for treatment practices of HO prophylaxis since 2000.</div></div><div><h3>Methods</h3><div>To evaluate HO prophylaxis in total hip arthroplasty, a search was conducted across MEDLINE/Pubmed, Cochrane, and Embase databases using keywords and Medical Subject Heading (MeSH) terms. Titles and abstracts were screened for eligibility for inclusion criteria. Full texts were screened and included if they met eligibility criteria.</div></div><div><h3>Results</h3><div>HO chemical prophylaxis was more effective than no HO prophylaxis, except for aspirin. Multiple NSAIDs showed equivalence and better side effect profiles than indomethacin. No one superior NSAID was found, and numerous modalities showed efficacy. The most effective dosages of radiation therapy and combination therapy remain unclear. Additionally, both etidronate and salmon calcitonin showed benefit in preventing HO in one study each.</div></div><div><h3>Conclusion</h3><div>Radiation, NSAIDs, and combination therapy all showed efficacy as HO prophylaxis modalities. HO prophylaxis treatment and modalities should be guided upon patient and surgical factors such as surgical approach, side effects and tolerability of modalities, comorbidities, and available facility resources to optimize the prevention of HO.</div><div>Level of evidence: Level IV Therapeutic.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101828"},"PeriodicalIF":2.1,"publicationDate":"2025-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143158952","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}
Pub Date : 2025-01-24DOI: 10.1016/j.bonr.2025.101827
Klaus Werner Labarre, Gerald Zimmermann
<div><h3>Background</h3><div>Knee osteoarthritis (OA) is a prevalent and debilitating condition that significantly impacts patients' quality of life and poses a substantial socioeconomic burden. Current treatments, including nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy, often provide only temporary relief and fail to halt disease progression, particularly in advanced stages where knee replacement surgery becomes the primary option. Regenerative cell therapies, particularly those utilizing mesenchymal stem cells (MSCs), have emerged as promising alternatives due to their anti-inflammatory and regenerative properties. This study investigates the efficacy of stromal vascular fraction (SVF) derived from autologous adipose tissue when injected into the infrapatellar (Hoffa's) fat pad, an approach that leverages the rich vascular and stem cell environment of the fat pad to potentially modulate inflammation and promote tissue repair.</div></div><div><h3>Methods</h3><div>Patients receiving therapy with SVF were invited to participate in the study. Inclusion criteria encompassed male and female patients aged 18 years or older with a Kellgren-Lawrence score up to 4, while exclusion criteria included malignant tumors, sepsis, or skin lesions at the site of collection or injection. A total of 25 patients were included in the study cohort, with two patients receiving bilateral treatment, resulting in 27 knees analyzed.</div><div>For the correlation analysis, an additional four patients who had only completed the six-month follow-up were included, one of whom underwent bilateral treatment. This extended the correlation analysis cohort to 29 patients and 32 knees. However, these four patients were excluded from the final study analysis as they had not completed the two-year follow-up. Consequently, the final analysis focused exclusively on the 25 patients (27 knees) who completed the full two-year follow-up.</div></div><div><h3>Results</h3><div>Significant improvements were observed in VAS pain scores and KOOS subscales for pain, activities of daily living (ADL), and quality of life (QOL) at 6 and 24 months (<em>p</em> < 0.05). The correlation between the number of injected cells and functional improvements was significant for ADL at 6 months (Spearman's rho = 0.31, <em>p</em> = 0.044). This time point was prioritized to evaluate early therapeutic responses, as it represents a critical window when cellular activity and therapeutic effects are believed to peak. Focusing on the six-month follow-up allowed for a detailed assessment of these early impacts while minimizing potential confounding factors observed in later stages. No major complications were reported.</div></div><div><h3>Conclusion</h3><div>SVF infiltration into the infrapatellar fat pad shows promising long-term benefits in pain relief and functional improvement for knee OA patients. Despite the lack of blinding and a control group, these findings suggest that SVF therapy coul
膝关节骨性关节炎（OA）是一种普遍且使人衰弱的疾病，严重影响患者的生活质量，并造成严重的社会经济负担。目前的治疗方法，包括非甾体抗炎药（NSAIDs）和物理治疗，通常只能提供暂时的缓解，不能阻止疾病的进展，特别是在膝关节置换手术成为主要选择的晚期。再生细胞疗法，特别是利用间充质干细胞（MSCs）的疗法，由于其抗炎和再生特性而成为有希望的替代疗法。本研究研究了自体脂肪组织衍生的基质血管组分（SVF）注射到髌下（Hoffa’s）脂肪垫后的疗效，这种方法利用脂肪垫丰富的血管和干细胞环境来调节炎症和促进组织修复。方法邀请接受SVF治疗的患者参与研究。纳入标准包括年龄≥18岁且kelgren - lawrence评分≥4的男性和女性患者，排除标准包括恶性肿瘤、败血症或采集或注射部位的皮肤病变。研究队列共纳入25例患者，其中2例患者接受双侧治疗，共分析27个膝关节。为了进行相关性分析，另外4名患者只完成了6个月的随访，其中1名接受了双侧治疗。这将相关分析队列扩展到29名患者和32个膝关节。然而，这4例患者因未完成2年随访而被排除在最终研究分析之外。因此，最终的分析集中在25名患者（27个膝关节），他们完成了为期两年的随访。结果在6个月和24个月时，两组患者的VAS疼痛评分和kos疼痛亚量表、日常生活活动（ADL）和生活质量（QOL）均有显著改善(p <；0.05)。注射细胞数与6个月时ADL功能改善之间的相关性显著（Spearman’s rho = 0.31, p = 0.044）。这个时间点被优先用于评估早期治疗反应，因为它代表了细胞活动和治疗效果达到峰值的关键窗口。关注六个月的随访可以详细评估这些早期影响，同时最大限度地减少后期观察到的潜在混杂因素。无重大并发症报道。结论svf浸润髌下脂肪垫对膝关节OA患者的疼痛缓解和功能改善具有远期疗效。尽管缺乏盲法和对照组，这些研究结果表明，SVF治疗可能是一种可行的微创替代更具侵入性的手术干预。
{"title":"Long-term effects of infrapatellar fat pad SVF infiltration in knee osteoarthritis management: A prospective cohort study","authors":"Klaus Werner Labarre, Gerald Zimmermann","doi":"10.1016/j.bonr.2025.101827","DOIUrl":"10.1016/j.bonr.2025.101827","url":null,"abstract":"<div><h3>Background</h3><div>Knee osteoarthritis (OA) is a prevalent and debilitating condition that significantly impacts patients' quality of life and poses a substantial socioeconomic burden. Current treatments, including nonsteroidal anti-inflammatory drugs (NSAIDs) and physical therapy, often provide only temporary relief and fail to halt disease progression, particularly in advanced stages where knee replacement surgery becomes the primary option. Regenerative cell therapies, particularly those utilizing mesenchymal stem cells (MSCs), have emerged as promising alternatives due to their anti-inflammatory and regenerative properties. This study investigates the efficacy of stromal vascular fraction (SVF) derived from autologous adipose tissue when injected into the infrapatellar (Hoffa's) fat pad, an approach that leverages the rich vascular and stem cell environment of the fat pad to potentially modulate inflammation and promote tissue repair.</div></div><div><h3>Methods</h3><div>Patients receiving therapy with SVF were invited to participate in the study. Inclusion criteria encompassed male and female patients aged 18 years or older with a Kellgren-Lawrence score up to 4, while exclusion criteria included malignant tumors, sepsis, or skin lesions at the site of collection or injection. A total of 25 patients were included in the study cohort, with two patients receiving bilateral treatment, resulting in 27 knees analyzed.</div><div>For the correlation analysis, an additional four patients who had only completed the six-month follow-up were included, one of whom underwent bilateral treatment. This extended the correlation analysis cohort to 29 patients and 32 knees. However, these four patients were excluded from the final study analysis as they had not completed the two-year follow-up. Consequently, the final analysis focused exclusively on the 25 patients (27 knees) who completed the full two-year follow-up.</div></div><div><h3>Results</h3><div>Significant improvements were observed in VAS pain scores and KOOS subscales for pain, activities of daily living (ADL), and quality of life (QOL) at 6 and 24 months (<em>p</em> < 0.05). The correlation between the number of injected cells and functional improvements was significant for ADL at 6 months (Spearman's rho = 0.31, <em>p</em> = 0.044). This time point was prioritized to evaluate early therapeutic responses, as it represents a critical window when cellular activity and therapeutic effects are believed to peak. Focusing on the six-month follow-up allowed for a detailed assessment of these early impacts while minimizing potential confounding factors observed in later stages. No major complications were reported.</div></div><div><h3>Conclusion</h3><div>SVF infiltration into the infrapatellar fat pad shows promising long-term benefits in pain relief and functional improvement for knee OA patients. Despite the lack of blinding and a control group, these findings suggest that SVF therapy coul","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101827"},"PeriodicalIF":2.1,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143158119","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}
Osteoporosis is a growing public health concern in aging populations such as Taiwan, where limited utilization of dual-energy X-ray absorptiometry (DXA) often leads to underdiagnosis and even delayed treatment. Therefore, we leveraged machine learning (ML) and aimed to develop a simple and easily accessible model that effectively identifies individuals at high risk of osteoporosis.
Methods
This retrospective analysis enrolled 5510 men aged ≥50 years and 4720 postmenopausal women who underwent DXA at the Kaohsiung Veterans General Hospital, with another cohort of 610 men and 523 women for validation. We developed separate models for men and women using decision trees, random forests, support vector machines, k-nearest neighbors, extreme gradient boosting, and artificial neural networks (ANNs) to predict osteoporosis. Furthermore, we compared each model with the traditional Osteoporosis Self-Assessment Tool for Asians (OSTA) model.
Results
We identified age, height, weight, and BMI as variables for our prediction model and evaluated the model's performance using the area under the receiver operating characteristic curve (AUC). The ANN model significantly outperformed the OSTA model and all the other ML models for both men and women (AUC: 0.67 for men; 0.77 for women). The validation data for the ANN model showed similar AUCs for both men and women.
Conclusion
This study developed ML models to help identify individuals at high risk of osteoporosis in postmenopausal women and men aged ≥50 years in southern Taiwan. Our ML models, especially the ANN model, surpassed the OSTA model and consistently performed well across different populations.
{"title":"A simple and user-friendly machine learning model to detect osteoporosis in health examination populations in Southern Taiwan","authors":"Wei-Chin Huang , I-Shu Chen , Hsien-Chung Yu , Chi-Shen Chen , Fu-Zong Wu , Chiao-Lin Hsu , Pin-Chieh Wu","doi":"10.1016/j.bonr.2025.101826","DOIUrl":"10.1016/j.bonr.2025.101826","url":null,"abstract":"<div><h3>Background</h3><div>Osteoporosis is a growing public health concern in aging populations such as Taiwan, where limited utilization of dual-energy X-ray absorptiometry (DXA) often leads to underdiagnosis and even delayed treatment. Therefore, we leveraged machine learning (ML) and aimed to develop a simple and easily accessible model that effectively identifies individuals at high risk of osteoporosis.</div></div><div><h3>Methods</h3><div>This retrospective analysis enrolled 5510 men aged ≥50 years and 4720 postmenopausal women who underwent DXA at the Kaohsiung Veterans General Hospital, with another cohort of 610 men and 523 women for validation. We developed separate models for men and women using decision trees, random forests, support vector machines, k-nearest neighbors, extreme gradient boosting, and artificial neural networks (ANNs) to predict osteoporosis. Furthermore, we compared each model with the traditional Osteoporosis Self-Assessment Tool for Asians (OSTA) model.</div></div><div><h3>Results</h3><div>We identified age, height, weight, and BMI as variables for our prediction model and evaluated the model's performance using the area under the receiver operating characteristic curve (AUC). The ANN model significantly outperformed the OSTA model and all the other ML models for both men and women (AUC: 0.67 for men; 0.77 for women). The validation data for the ANN model showed similar AUCs for both men and women.</div></div><div><h3>Conclusion</h3><div>This study developed ML models to help identify individuals at high risk of osteoporosis in postmenopausal women and men aged ≥50 years in southern Taiwan. Our ML models, especially the ANN model, surpassed the OSTA model and consistently performed well across different populations.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101826"},"PeriodicalIF":2.1,"publicationDate":"2025-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11783436/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078586","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}
Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. Anoctamin 5 (ANO5) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin (Ano5KI/KI) mouse model expressing the human mutation p.Cys360Tyr was used to investigate the role of Akt signaling in enhanced osteogenesis and decreased osteoclastogenesis in GDD.
Methods
Bone marrow-derived macrophages (BMMs) and mouse calvarial osteoblasts (mCOBs) were isolated from homozygous Ano5KI/KI mice and treated with SC79, a specific Akt activator. The differentiation and F-actin ring formation of osteoclasts were examined by TRAP and phalloidin staining, respectively. Osteoblast differentiation and mineralization were examined by ALP and alizarin red staining. The expression of bone remodeling-related factors was measured by qRT-PCR.
Results
Akt activation promoted the generation of TRAP-positive multinucleated osteoclasts and the formation of actin rings in Ano5KI/KI BMMs cultures, accompanied by increased expression of Nfatc1, Trap, Dc-stamp, Mmp9, Ctsk, and Atp6v0d2. Additionally, Ano5Cys360Tyr mutation down-regulated the Akt phosphorylation level in osteoblast. ALP activity and matrix mineralization capacity in Ano5KI/KI osteoblast cultures were inhibited after SC79 stimulation, with reduced expression of Runx2, Opn, Col1a1, and Ocn.
Conclusion
Akt activation by SC79 stimulation can obviously rescue abnormal increased osteogenesis and decreased osteoclastogenesis in Ano5KI/KI mouse model, which demonstrated that disturbed Akt signaling pathway may play a pivotal role in the pathogenesis of GDD, and an Akt activator is probable a therapeutic target for GDD.
{"title":"Ano5Cys360Tyr mutation leads to bone dysfunction of gnathodiaphyseal dysplasia via disturbing Akt signaling","authors":"Hongyu Li, Shengnan Wang, Shuai Zhang, Rui Dong, Congcong Miao, Zhenchuan Tian, Ying Hu","doi":"10.1016/j.bonr.2025.101825","DOIUrl":"10.1016/j.bonr.2025.101825","url":null,"abstract":"<div><h3>Background</h3><div>Gnathodiaphyseal dysplasia (GDD) is a rare autosomal dominant genetic disease characterized by osteosclerosis of the tubular bones and cemento-osseous lesions of the mandibles. <em>Anoctamin 5</em> (<em>ANO5</em>) is the pathogenic gene, however, the specific molecular mechanism of GDD remains unclear. Herein, a knockin (<em>Ano5</em><sup><em>KI/KI</em></sup>) mouse model expressing the human mutation p.Cys360Tyr was used to investigate the role of Akt signaling in enhanced osteogenesis and decreased osteoclastogenesis in GDD.</div></div><div><h3>Methods</h3><div>Bone marrow-derived macrophages (BMMs) and mouse calvarial osteoblasts (mCOBs) were isolated from homozygous <em>Ano5</em><sup><em>KI/KI</em></sup> mice and treated with SC79, a specific Akt activator. The differentiation and F-actin ring formation of osteoclasts were examined by TRAP and phalloidin staining, respectively. Osteoblast differentiation and mineralization were examined by ALP and alizarin red staining. The expression of bone remodeling-related factors was measured by qRT-PCR.</div></div><div><h3>Results</h3><div>Akt activation promoted the generation of TRAP-positive multinucleated osteoclasts and the formation of actin rings in <em>Ano5</em><sup><em>KI/KI</em></sup> BMMs cultures, accompanied by increased expression of <em>Nfatc1</em>, <em>Trap</em>, <em>Dc-stamp</em>, <em>Mmp9</em>, <em>Ctsk</em>, and <em>Atp6v0d2</em>. Additionally, <em>Ano5</em><sup><em>Cys360Tyr</em></sup> mutation down-regulated the Akt phosphorylation level in osteoblast. ALP activity and matrix mineralization capacity in <em>Ano5</em><sup><em>KI/KI</em></sup> osteoblast cultures were inhibited after SC79 stimulation, with reduced expression of <em>Runx2, Opn, Col1a1</em>, <em>and Ocn</em>.</div></div><div><h3>Conclusion</h3><div>Akt activation by SC79 stimulation can obviously rescue abnormal increased osteogenesis and decreased osteoclastogenesis in <em>Ano5</em><sup><em>KI/KI</em></sup> mouse model, which demonstrated that disturbed Akt signaling pathway may play a pivotal role in the pathogenesis of GDD, and an Akt activator is probable a therapeutic target for GDD.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101825"},"PeriodicalIF":2.1,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11763220/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045635","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}
Pub Date : 2025-01-04DOI: 10.1016/j.bonr.2025.101824
Nicholas J. Hanne , Andrew J. Steward , Carla Geeroms , Elizabeth D. Easter , Hannah T. Gensch , Greet Kerckhofs , Tatjana N. Parac-Vogt , Huaxin Sheng , Jacqueline H. Cole
Stroke patients lose bone mass and experience fracture at an elevated rate. Although functional intraosseous vasculature is necessary for skeletal maintenance, the effect of stroke on osteovasculature is unknown. In this study we characterized changes to osteovascular perfusion, structure, and composition following mild-to-moderate stroke severity in mice, both with and without exercise therapy. Twelve-week-old male mice (n = 27) received either an ischemic stroke (middle cerebral artery occlusion) or sham procedure, followed by a four-week recovery with either moderate daily treadmill or sedentary activity. Intraosseous perfusion, measured weekly in the proximal tibial metaphysis with laser Doppler flowmetry, was reduced for two weeks in the stroke group relative to the sham group. After four weeks, osteovascular structure was assessed in the distal femoral metaphysis with contrast-enhanced computed tomography. Increased osteovascular volume and branching, decreased number of smaller vessels (6–22 μm), and increased number of larger vessels (>66 μm) were observed in the stroke groups compared to sham groups, which may be a compensatory response to early perfusion deficits. Although moderate exercise mitigated the impact of stroke on osteovascular perfusion and volume, it tended to reduce the amount of osteogenic type H vasculature quantified with immunofluorescence microscopy and, exacerbated by stroke effects, produced fewer vessels in close proximity to bone and thus may have detrimental effects on bone remodeling during early stroke recovery. Since results were similar in both limbs, the effects of ischemic stroke on osteovascular perfusion and structure were primarily systemic, rather than resulting from paresis or disuse, providing new insight for future studies on the pathogenesis and treatment of skeletal fragility in stroke patients.
{"title":"Ischemic stroke reduces bone perfusion and alters osteovascular structure","authors":"Nicholas J. Hanne , Andrew J. Steward , Carla Geeroms , Elizabeth D. Easter , Hannah T. Gensch , Greet Kerckhofs , Tatjana N. Parac-Vogt , Huaxin Sheng , Jacqueline H. Cole","doi":"10.1016/j.bonr.2025.101824","DOIUrl":"10.1016/j.bonr.2025.101824","url":null,"abstract":"<div><div>Stroke patients lose bone mass and experience fracture at an elevated rate. Although functional intraosseous vasculature is necessary for skeletal maintenance, the effect of stroke on osteovasculature is unknown. In this study we characterized changes to osteovascular perfusion, structure, and composition following mild-to-moderate stroke severity in mice, both with and without exercise therapy. Twelve-week-old male mice (<em>n</em> = 27) received either an ischemic stroke (middle cerebral artery occlusion) or sham procedure, followed by a four-week recovery with either moderate daily treadmill or sedentary activity. Intraosseous perfusion, measured weekly in the proximal tibial metaphysis with laser Doppler flowmetry, was reduced for two weeks in the stroke group relative to the sham group. After four weeks, osteovascular structure was assessed in the distal femoral metaphysis with contrast-enhanced computed tomography. Increased osteovascular volume and branching, decreased number of smaller vessels (6–22 μm), and increased number of larger vessels (>66 μm) were observed in the stroke groups compared to sham groups, which may be a compensatory response to early perfusion deficits. Although moderate exercise mitigated the impact of stroke on osteovascular perfusion and volume, it tended to reduce the amount of osteogenic type H vasculature quantified with immunofluorescence microscopy and, exacerbated by stroke effects, produced fewer vessels in close proximity to bone and thus may have detrimental effects on bone remodeling during early stroke recovery. Since results were similar in both limbs, the effects of ischemic stroke on osteovascular perfusion and structure were primarily systemic, rather than resulting from paresis or disuse, providing new insight for future studies on the pathogenesis and treatment of skeletal fragility in stroke patients.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101824"},"PeriodicalIF":2.1,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11782850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143078625","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}
Pub Date : 2025-01-03DOI: 10.1016/j.bonr.2024.101823
Yuanyuan Zhang, Xuejing Wang, Shiguang Huo, Li Hong, Feifei Li
Introduction
Adolescents with a lower peak bone mineral density (BMD) and bone mineral content (BMC) have an elevated risk of osteoporosis in adulthood. The impact of diet on bone health, particularly its role in managing inflammation, which is a key factor in bone health, is gaining wider recognition. Despite evidence that anti-inflammatory diets can enhance bone health, the link between the dietary inflammatory index (DII) and bone health among US adolescents has not been thoroughly investigated. This study aimed to evaluate the correlation between DII score and bone health in this population.
Methods
This cross-sectional study used data from the National Health and Nutrition Examination Survey (NHANES) of US adolescents aged 12–18 years, spanning surveys from 2001 to 2018. The DII was derived from dietary recall data obtained through questionnaire interviews. Bone health was assessed through total body less head (TBLH) BMD and BMC z-scores and lumbar spine bone mineral apparent density for age (BMADa).
Results
The study comprised 8773 adolescents with a mean age of 14.94 ± 1.97 years, 52.2 % were male. Multivariate linear regression analysis revealed a negative correlation between DII and lumbar spine BMADa (β = −0.000003, 95 % confidence interval [CI], −0.000005 to −0.000001; P = 0.001).This significant association remained robust when DII was treated as a categorical variable. Compared with individuals in quartile 1(Q1) DII scores (−3.71 to 1.04), those in Q4 (3.37 to 5.04) had lower BMADa, with a regression coefficient of −0.00002 (95 % CI, −0.00003 to −0.000007, P < 0.001). DII was negatively correlated with TBLH BMC z-scores; however, the difference was not statistically significant. Subgroup analyses showed that DII was associated with lumbar spine BMADa and TBLH BMC z-scores in participants who were male, non-black, with a higher educational level, with a high family income, and underweight to normal weight. We found no significant association between DII and TBLH BMD z-scores.
Conclusion
The findings from this cross-sectional analysis indicate a significant association between the DII and bone health among adolescents in the US, with a notable impact in males and non-black. These insights underscore the importance of adopting dietary patterns to mitigate inflammation and to support optimal bone health and metabolism.
{"title":"The association between dietary inflammatory index and bone health in US adolescents: Analysis of the NHANES data","authors":"Yuanyuan Zhang, Xuejing Wang, Shiguang Huo, Li Hong, Feifei Li","doi":"10.1016/j.bonr.2024.101823","DOIUrl":"10.1016/j.bonr.2024.101823","url":null,"abstract":"<div><h3>Introduction</h3><div>Adolescents with a lower peak bone mineral density (BMD) and bone mineral content (BMC) have an elevated risk of osteoporosis in adulthood. The impact of diet on bone health, particularly its role in managing inflammation, which is a key factor in bone health, is gaining wider recognition. Despite evidence that anti-inflammatory diets can enhance bone health, the link between the dietary inflammatory index (DII) and bone health among US adolescents has not been thoroughly investigated. This study aimed to evaluate the correlation between DII score and bone health in this population.</div></div><div><h3>Methods</h3><div>This cross-sectional study used data from the National Health and Nutrition Examination Survey (NHANES) of US adolescents aged 12–18 years, spanning surveys from 2001 to 2018. The DII was derived from dietary recall data obtained through questionnaire interviews. Bone health was assessed through total body less head (TBLH) BMD and BMC z-scores and lumbar spine bone mineral apparent density for age (BMAD<sub>a</sub>).</div></div><div><h3>Results</h3><div>The study comprised 8773 adolescents with a mean age of 14.94 ± 1.97 years, 52.2 % were male. Multivariate linear regression analysis revealed a negative correlation between DII and lumbar spine BMAD<sub>a</sub> (β = −0.000003, 95 % confidence interval [CI], −0.000005 to −0.000001; <em>P</em> = 0.001).This significant association remained robust when DII was treated as a categorical variable. Compared with individuals in quartile 1(Q1) DII scores (−3.71 to 1.04), those in Q4 (3.37 to 5.04) had lower BMAD<sub>a</sub>, with a regression coefficient of −0.00002 (95 % CI, −0.00003 to −0.000007, <em>P</em> < 0.001). DII was negatively correlated with TBLH BMC z-scores; however, the difference was not statistically significant. Subgroup analyses showed that DII was associated with lumbar spine BMAD<sub>a</sub> and TBLH BMC z-scores in participants who were male, non-black, with a higher educational level, with a high family income, and underweight to normal weight. We found no significant association between DII and TBLH BMD z-scores.</div></div><div><h3>Conclusion</h3><div>The findings from this cross-sectional analysis indicate a significant association between the DII and bone health among adolescents in the US, with a notable impact in males and non-black. These insights underscore the importance of adopting dietary patterns to mitigate inflammation and to support optimal bone health and metabolism.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"24 ","pages":"Article 101823"},"PeriodicalIF":2.1,"publicationDate":"2025-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11758120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045638","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号