Bone ReportsPub Date : 2025-04-28DOI: 10.1016/j.bonr.2025.101847
Shejil KUMAR , Courtney STREETER , Michelle M. MCDONALD , Roderick J. CLIFTON- BLIGH , Matti L. GILD , Christian M. GIRGIS
{"title":"Combination or sequential teriparatide for osteoporosis treatment in denosumab-users: real-world bone mineral density outcomes","authors":"Shejil KUMAR , Courtney STREETER , Michelle M. MCDONALD , Roderick J. CLIFTON- BLIGH , Matti L. GILD , Christian M. GIRGIS","doi":"10.1016/j.bonr.2025.101847","DOIUrl":"10.1016/j.bonr.2025.101847","url":null,"abstract":"<div><div>The optimal osteoanabolic strategy in denosumab (Dmab)-users remains uncertain. In treatment-naïve patients, Dmab/teriparatide (TPTD) combinations result in dramatic bone mineral density (BMD) gains at the spine and hip. However, BMD outcomes with combination Dmab/TPTD have not been investigated in patients on <em>established</em> Dmab.</div><div>We retrospectively reviewed patients with osteoporosis at two Sydney centers between 2013 and 2023. Eligible patients were managed with Dmab immediately before ≥12-months TPTD. Patients were grouped according to whether TPTD was added to ongoing Dmab (<em>combination</em>) or Dmab was withheld during TPTD (<em>sequence</em>). BMD outcomes were assessed during TPTD.</div><div>The total cohort (<em>N</em> = 23; 11 = combination, 12 = sequence) had mean age 77 ± 7 years and were predominantly female (87 %). Overall, prior vertebral (52 %) and non-vertebral fractures (2.4 ± 1.5) were prevalent and pre-TPTD BMD T-scores (SD) low at lumbar spine (−2.4 ± 1.2) and total hip (−2.2 ± 0.6). Median Dmab exposure was 5-doses (IQR 3–11), median overall antiresorptive exposure was 6-years (IQR 4–11) and majority (>90 %) received 18-months TPTD. Groups were similar in age, sex, Dmab and overall antiresorptive exposure, fracture prevalence, DXA interval and pre-TPTD BMD values. Combination Dmab/TPTD was associated with significant lumbar spine BMD gains (+0.080 g/cm<sup>2</sup> ± 0.059 g/cm<sup>2</sup>, <em>p</em> = 0.004; +9.8 %). No significant BMD change occurred during sequential Dmab/TPTD (+0.026 g/cm<sup>2</sup> ± 0.049 g/cm<sup>2</sup>, <em>p</em> = 0.107; +3.5 %). Combination Dmab/TPTD resulted in greater lumbar spine BMD gains (<em>p</em> = 0.039). Hip and femoral neck BMD remained stable in both groups.</div><div>In this retrospective study, significant lumbar spine BMD gains occurred during combined Dmab/TPTD in patients on established Dmab. These results warrant prospective controlled studies to further inform optimal osteoanabolic strategies in Dmab-users.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101847"},"PeriodicalIF":2.1,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143879309","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone ReportsPub Date : 2025-04-24DOI: 10.1016/j.bonr.2025.101846
Hoda Ghodrati , Ali Goodarzi , Mohammad Golrokhian , Farnaz Fattahi , Reza Mahmoudi Anzabi , Meysam Mohammadikhah , Saiedeh Sadeghi , Sabah Mirhadi
{"title":"A narrative review of recent developments in osseointegration and anti-corrosion of titanium dental implants with nano surface","authors":"Hoda Ghodrati , Ali Goodarzi , Mohammad Golrokhian , Farnaz Fattahi , Reza Mahmoudi Anzabi , Meysam Mohammadikhah , Saiedeh Sadeghi , Sabah Mirhadi","doi":"10.1016/j.bonr.2025.101846","DOIUrl":"10.1016/j.bonr.2025.101846","url":null,"abstract":"<div><div>Titanium (Ti) is widely acknowledged as the top choice for constructing dental implants because of its remarkable biocompatibility and biomechanical characteristics. Its rapid oxidation in the presence of oxygen forms a protective titanium dioxide (TiO<sub>2</sub>) layer on the implants’ surface, ensuring resistance to corrosion. This thin oxide layer plays a crucial role in establishing the favorable biocompatibility of Ti implants. However, under mechanical loading conditions, the integrity of the TiO<sub>2</sub> layer can be compromised through the dynamic interactions between the implant and bone tissue, leading to localized damage and subsequent corrosion. This corrosion weakens the implant and may result in the release of metallic particles or ions into the surrounding living tissues. Consequently, corrosion serves as a potential catalyst for the emergence of malfunctions in dental implants, whether biological or mechanical in nature. To address this issue, extensive research has focused on nanoscale surface modifications aimed at enhancing the durability and resistance to chemical and electrochemical changes exhibited by dental implants made from Ti. Hence, this narrative review specifically examines nano surface modifications of titanium dental implants, focusing on their effects on corrosion resistance, biomechanical performance, and osseointegration, distinguishing it from other reviews that address broader aspects of titanium implants or general corrosion mechanisms.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101846"},"PeriodicalIF":2.1,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143898929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone ReportsPub Date : 2025-04-23DOI: 10.1016/j.bonr.2025.101845
Chelsea E. Harris , Lingling Liu , Luiz Almeida , Carolina Kassick , Sokratis Makrogiannis
{"title":"Artificial intelligence in pediatric osteopenia diagnosis: evaluating deep network classification and model interpretability using wrist X-rays","authors":"Chelsea E. Harris , Lingling Liu , Luiz Almeida , Carolina Kassick , Sokratis Makrogiannis","doi":"10.1016/j.bonr.2025.101845","DOIUrl":"10.1016/j.bonr.2025.101845","url":null,"abstract":"<div><div>Osteopenia is a bone disorder that causes low bone density and affects millions of people worldwide. Diagnosis of this condition is commonly achieved through clinical assessment of bone mineral density (BMD). State of the art machine learning (ML) techniques, such as convolutional neural networks (CNNs) and transformer models, have gained increasing popularity in medicine. In this work, we employ six deep networks for osteopenia vs. healthy bone classification using X-ray imaging from the pediatric wrist dataset GRAZPEDWRI-DX. We apply two explainable AI techniques to analyze and interpret visual explanations for network decisions. Experimental results show that deep networks are able to effectively learn osteopenic and healthy bone features, achieving high classification accuracy rates. Among the six evaluated networks, DenseNet201 with transfer learning yielded the top classification accuracy at 95.2 %. Furthermore, visual explanations of CNN decisions provide valuable insight into the blackbox inner workings and present interpretable results. Our evaluation of deep network classification results highlights their capability to accurately differentiate between osteopenic and healthy bones in pediatric wrist X-rays. The combination of high classification accuracy and interpretable visual explanations underscores the promise of incorporating machine learning techniques into clinical workflows for the early and accurate diagnosis of osteopenia.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101845"},"PeriodicalIF":2.1,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143877361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone ReportsPub Date : 2025-04-16DOI: 10.1016/j.bonr.2025.101844
Julian A. Vallejo , Mark Gray , Jackson Klump , Andrew Wacker , Mark Dallas , Mark L. Johnson , Michael J. Wacker
{"title":"Bone mechanical loading reduces heart rate and increases heart rate variability in mice","authors":"Julian A. Vallejo , Mark Gray , Jackson Klump , Andrew Wacker , Mark Dallas , Mark L. Johnson , Michael J. Wacker","doi":"10.1016/j.bonr.2025.101844","DOIUrl":"10.1016/j.bonr.2025.101844","url":null,"abstract":"<div><div>Cardiovascular disease and osteoporosis are clinically associated. Bone adapts to mechanical forces by altering its overall structure and mass. In response to mechanical strain bone cells release signaling molecules and activate the nervous system. Bone also exhibits endocrine functions that modulate a number of tissues including the heart. We hypothesized that bone mechanical loading acutely alters cardiac function via neural and/or endocrine mechanisms. To test this hypothesis, we performed in vivo tibia mechanical loading in anesthetized mice while monitoring heart parameters using electrocardiogram (ECG). An immediate, transient reduction in resting heart rate was observed during tibial loading in both adult male and female mice (<em>p</em> < 0.01) with concurrent increases in heart rate variability (HRV) (p < 0.01). ECG intervals, PR, QRS and QTc were unaffected with loading. In further studies, we found that at least 3 N of load was necessary to elicit this heart response in adult mice. With aging to 11–12 months the responsiveness of the heart to loading was blunted, suggesting this bone-heart connection may weaken with age. Administration of lidocaine around the tibia significantly diminished the heart rate response to bone loading (<em>p</em> < 0.05). Moreover, pre-treatment with sympathetic antagonist propranolol inhibited this heart rate response to loading (<em>p</em> < 0.05), while parasympathetic antagonist atropine did not (<em>p</em> > 0.05). This suggests that a neuronal afferent pathway in the hindlimb and reduction in efferent sympathetic tone mediate this bone-neuro-heart reflex. In conclusion, the findings that tibia bone loading age-dependently modulates heart function support the concept of physiological coupling of the skeletal and cardiovascular systems.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101844"},"PeriodicalIF":2.1,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143859918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone ReportsPub Date : 2025-04-14DOI: 10.1016/j.bonr.2025.101843
Yael Milgrom , Aharon S. Finestone , Charles Milgrom
{"title":"A rat traumatized shoulder model for the study of post-surgical adhesions","authors":"Yael Milgrom , Aharon S. Finestone , Charles Milgrom","doi":"10.1016/j.bonr.2025.101843","DOIUrl":"10.1016/j.bonr.2025.101843","url":null,"abstract":"<div><div>A third of patients after open reduction and plating of proximal humerus fractures require subsequent plate removal principally because of adhesions which occur between the deep surface of the deltoid and fracture fixation zone and limit shoulder motion. A rat model of post-surgical shoulder adhesions was developed using a deltoid split approach commonly used in proximal humerus fracture surgery, with trauma induced by a straight diamond nasal rasp to the undersurface of the deltoid and supraspinatus tendon and adjoining proximal humerus. Using the model, the traumatized limb of 12 animals treated with an alginate mimetic injected into the wound before closure and 9 untreated animals were immobilized for 9 ± 1 days and then their passive range of shoulder flexion-extension measured, followed by histopathology examination. The total passive range of shoulder flexion-extension of 120 degrees in the alginate treated group was greater than the 84 degrees in the untreated group (p = 0.0043). The mean periosteal fibrotic capsule width in the injured area of untreated animals (515 ± 449 μm) was greater than that of animals treated with alginate (186 ± 180 μm, p = 0.003). Untreated animals had severe, grade 4 fibrosis and collagen deposition, and granulation tissue, while treated animals had mild grade 1 responses. The animal model developed produced limited shoulder motion and associated fibrotic changes. It can be used to evaluate potential treatments designed to prevent adhesions that develop after plating of proximal humeral fractures.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101843"},"PeriodicalIF":2.1,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143838506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The effect of acupuncture on reducing postoperative complications in fracture patients: A retrospective analysis using the TriNetX database","authors":"Yi-Pin Chang , Hsin-Hua Chen , Jui-Ju Tseng , Chia-I Tsai","doi":"10.1016/j.bonr.2025.101842","DOIUrl":"10.1016/j.bonr.2025.101842","url":null,"abstract":"<div><h3>Background</h3><div>Bone fracture is a common orthopedic condition that affects millions of people worldwide. The management frequently involves surgery, which requires hospitalization. Patients with fractures often have a risk of developing complications, including pain, inflammation, infection, delayed healing, thrombosis, and organ failure. Acupuncture is widely used for conditions such as pain, respiratory issues, urinary system disorders, and gastrointestinal discomfort.</div></div><div><h3>Methods</h3><div>In this retrospective study, we evaluated the effectiveness of acupuncture in reducing postoperative complications in fracture patients. Using the TriNetX platform, we identified individuals hospitalized for their first fracture surgery and performed 1: 1 propensity score matching. Patients who received three or more acupuncture treatments within one week (<em>n</em> = 433) were compared to those who received none (n = 433), with matching based on age, sex, race, BMI, comorbidities, and medications (standardized mean differences). Postoperative complications within 180 days were analyzed using risk percentages, risk ratios, odds ratios, Kaplan-Meier analysis with log-rank tests, and hazard ratios, all reported with 95 % confidence intervals and <em>P</em>-values.</div></div><div><h3>Results</h3><div>Fourteen patients in the acupuncture group experienced respiratory failure with a risk of 3.2 %, while 29 patients in the non-acupuncture group developed respiratory failure with a risk of 6.7 %. The risk ratio was 0.48 (95 % CI 0.26–0.90) and the OR was 0.47 (95 % CI 0.24–0.89). The Kaplan-Meier analysis found a significantly higher survival probability in the acupuncture group (log-rank test <em>P</em> = 0.01; HR 0.44, 95%CI 0.23–0.83).</div></div><div><h3>Conclusions</h3><div>Acupuncture appeared to have the potential to reduce postoperative complications in bone fracture patients. Further large-scale studies are needed to provide stronger evidence.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101842"},"PeriodicalIF":2.1,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143816361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bone ReportsPub Date : 2025-04-02DOI: 10.1016/j.bonr.2025.101841
Katelynn R. Gallagher, Olivia N. White, Andrew A. Tomaschke, Dyann M. Segvich, Joseph M. Wallace
{"title":"Ribosylation-induced increase in advanced glycation end products has limited impacts on mechanical properties in human cortical bone","authors":"Katelynn R. Gallagher, Olivia N. White, Andrew A. Tomaschke, Dyann M. Segvich, Joseph M. Wallace","doi":"10.1016/j.bonr.2025.101841","DOIUrl":"10.1016/j.bonr.2025.101841","url":null,"abstract":"<div><div>Diabetes affects over 38 million individuals in the U.S. and is associated with a heightened risk of fractures despite normal or elevated bone mineral density (BMD). This increased fracture susceptibility may be linked to the accumulation of advanced glycation end products (AGEs), which are theorized to compromise bone quality by stiffening the collagen network, leading to tissue embrittlement. In this study, the mechanical effects of AGE accumulation in human cortical bone were evaluated <em>in vitro</em>. Bone beams, derived from a human femur, were incubated in a ribose solution to induce AGE accumulation, while control beams were incubated in a control solution. Dynamic Mechanical Analysis (DMA) and three-point bending tests were conducted to assess the mechanical properties of the bone beams. Fluorescent AGE analysis was performed to quantify and compare AGE levels between the groups. The study found no significant differences in mechanical properties between the control and ribose-treated groups, despite a significant elevation in normalized AGE content in the ribose group. These results suggest that AGE accumulation may have a weaker impact on the mechanical properties of human bone than previously hypothesized. However, this study emphasizes the need for further research to explore the relationship between AGE accumulation and bone quality. Understanding this relationship is crucial for developing strategies to reduce fracture risk in populations with high AGE levels, such as diabetic and elderly individuals.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101841"},"PeriodicalIF":2.1,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143769110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Intake of eggshell membrane enhances bone mass and suppresses bone marrow adiposity in normal growing rats","authors":"Nao Yashima , Kaoru Fujikawa , Wataru Minamizono , Hiroya Matsunaga , Jiazheng Lyu , Hirai Suito , Takumi Okunuki , Shingo Nakai , Masafumi Ohsako","doi":"10.1016/j.bonr.2025.101840","DOIUrl":"10.1016/j.bonr.2025.101840","url":null,"abstract":"<div><div>Eggshell membrane intake is considered to have beneficial effects on bone health; however, relevant evidence remains scant. Therefore, we aimed to explore the direct effects of eggshell membrane intake on osteogenic function in normal growing rats. Six-week-old male Wistar rats were divided into control (CO) and eggshell membrane (EM) groups. The experiment was conducted over 8 weeks. Visual observation and micro-computed tomography analysis revealed a significant increase in bone mass in the EM group compared with that in the CO group. Histological analysis showed thick and long trabeculae in the EM group, accompanied by an increase in the number of osteoblasts and suppression of adipocyte accumulation. Furthermore, <em>Col1a1</em> expression was significantly higher in the EM group than in the CO group, although no significant differences were found in the number of TRAP-positive osteoclasts or <em>Ctsk</em> expression. Immunohistochemical analysis demonstrated a notable increase in the number of Col1-positive osteoblasts but a significant decrease in the number of Dlk1-positive adipocytes in the EM group. Gene expression analysis revealed no difference in the expression of <em>Runx2</em> (the master regulator of osteoblast differentiation) between the groups. However, the expression of <em>Sp7</em>, which functions downstream of <em>Runx2</em>, was significantly upregulated, whereas that of <em>Pparg</em>, the master regulator of adipocyte differentiation, was significantly downregulated in the EM group compared with those in the CO group. Overall, the intake of eggshell membranes may enhance osteogenic function and suppress bone marrow adiposity. These findings support the beneficial effects of eggshell membrane intake on bone health.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101840"},"PeriodicalIF":2.1,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143748582","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}
Bone ReportsPub Date : 2025-03-24DOI: 10.1016/j.bonr.2025.101839
Casey S. Greene , Christopher R. Gignoux , Marc Subirana-Granés , Milton Pividori , Stephanie C. Hicks , Cheryl L. Ackert-Bicknell
{"title":"Can AI reveal the next generation of high-impact bone genomics targets?","authors":"Casey S. Greene , Christopher R. Gignoux , Marc Subirana-Granés , Milton Pividori , Stephanie C. Hicks , Cheryl L. Ackert-Bicknell","doi":"10.1016/j.bonr.2025.101839","DOIUrl":"10.1016/j.bonr.2025.101839","url":null,"abstract":"<div><div>Genetic studies have revealed hundreds of loci associated with bone-related phenotypes, including bone mineral density (BMD) and fracture risk. However, translating discovered loci into effective new therapies remains challenging. We review success stories including PCSK9-related drugs in cardiovascular disease and evidence supporting the use of human genetics to guide drug discovery, while highlighting advances in artificial intelligence and machine learning with the potential to improve target discovery in skeletal biology. These strategies are poised to improve how we integrate diverse data types, from genetic and electronic health records data to single-cell profiles and knowledge graphs. Such emerging computational methods can position bone genomics for a future of more precise, effective treatments, ultimately improving the outcomes for patients with common and rare skeletal disorders.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101839"},"PeriodicalIF":2.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143696718","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}
Bone ReportsPub Date : 2025-03-24DOI: 10.1016/j.bonr.2025.101838
André Silva Franco , Valeria de Falco Caparbo , Elieser Hitoshi Watanabe , Rosa Maria Rodrigues Pereira , Luiz Fernando Onuchic
{"title":"Bone mineral density and microarchitecture improvement in a young patient with Hajdu-Cheney syndrome and autosomal dominant polycystic kidney disease treated with alendronate","authors":"André Silva Franco , Valeria de Falco Caparbo , Elieser Hitoshi Watanabe , Rosa Maria Rodrigues Pereira , Luiz Fernando Onuchic","doi":"10.1016/j.bonr.2025.101838","DOIUrl":"10.1016/j.bonr.2025.101838","url":null,"abstract":"<div><h3>Introduction</h3><div>Osteoporosis, typically seen in postmenopausal women, can also affect younger individuals, a condition known as Early-Onset Osteoporosis (EOOP). EOOP may be secondary to various conditions or arise from rare genetic disorders such as Hajdu-Cheney Syndrome (HCS), characterized by systemic bone involvement and fragility fractures.</div></div><div><h3>Case Report</h3><div>A 14-year-old male presented with a distal left femur fragility fracture. His medical history included spina bifida and bilateral tarsal coalition, with no family history of osteoporosis, and polycystic kidneys associated with a positive family history of autosomal dominant polycystic kidney disease (ADPKD). Laboratory tests were unremarkable, but dual X-ray absorptiometry (DXA) revealed low bone mineral density (BMD), and high resolution peripheral quantitative computed tomography (HR-pQCT) showed decreased volumetric bone density (vBMD), particularly in the cortical bone. At age 17, his kidneys were cystic and mildly enlarged. Whole exome sequencing revealed a pathogenic variant in <em>NOTCH2</em>, confirming the diagnosis of HCS, and a very likely causative variant in <em>PKD1</em>, supporting the diagnosis of ADPKD.</div><div>The treatment regimen included weekly alendronate, impact exercise, a calcium-rich diet, and vitamin D supplementation. After 3 years, follow-up DXA and HR-pQCT demonstrated significant improvements in BMD and vBMD, mainly in the cortical bone.</div></div><div><h3>Discussion</h3><div>This case highlights the effectiveness of alendronate in managing osteoporosis in a patient with HCS and ADPKD, despite the current lack of strong supportive evidence. Long-term monitoring revealed substantial improvements in bone density and microarchitecture, underscoring the importance of early diagnosis and intervention for genetic causes of osteoporosis to prevent fracture-related morbidity.</div></div>","PeriodicalId":9043,"journal":{"name":"Bone Reports","volume":"25 ","pages":"Article 101838"},"PeriodicalIF":2.1,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143697921","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}