Osteoporosis and Sarcopenia最新文献

英文中文

Reply on “Dental panoramic radiographs by dental students versus artificial intelligence” 回复“牙科学生拍摄牙科全景x光片与人工智能”

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2025-03-01 DOI: 10.1016/j.afos.2025.02.003

Akira Taguchi

引用次数: 0

A predictive nomogram for selective screening of asymptomatic vertebral fractures: The Vietnam Osteoporosis Study 选择性筛选无症状椎体骨折的预测图：越南骨质疏松症研究

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2025-03-01 DOI: 10.1016/j.afos.2024.12.002

Hoa T. Nguyen , Bao T. Nguyen , An V. Tran , Tan T. Nguyen , Long H. Ngo , Tam Vo , Thi H. Nhung Thai , Linh D. Mai , Thach S. Tran , Tuan V. Nguyen , Lan T. Ho-Pham

Objectives

Vertebral fractures are associated with disability and mortality, but most vertebral fractures are asymptomatic. The present study aimed to determine the incidence of and develop a predictive nomogram for asymptomatic vertebral fractures in Vietnamese adults.

Methods

This cohort study as a part of the Vietnam Osteoporosis Study involved 168 men and 287 women aged 50 years and older without a clinically diagnosed vertebral fracture. Their spine x-rays were taken at the recruitment and subsequent 2-year visit. Vertebral fractures were ascertained using the Genant's semi-quantitative method. We employed the Bayesian Model Averaging method to search for the optimal model for predicting asymptomatic vertebral fractures. A predictive nomogram was also developed to facilitate risk prediction.

Results

During a median of 2.38 years of follow-up, 13 men and 16 women developed an asymptomatic vertebral fracture, yielding the overall incidence rate of 28 fractures per 1000 person-years, or 33 fractures/1000 person-years in men and 24 fractures/1000 person-years in women, respectively. Most asymptomatic vertebral fractures were moderate, almost 1.5 times more common than mild fractures. The optimal model for predicting incident asymptomatic vertebral fractures included age, male sex and lower femoral neck T-score. The area under the receiver's operating characteristic curve was 0.91, with 95% CI ranging from 0.86 to 0.96.

Conclusions

Asymptomatic vertebral fractures were relatively common among adults in Vietnam. A simple model with sex, age and femoral neck T-score is helpful for selective screening of asymptomatic vertebral fractures in Vietnamese individuals.

目的椎体骨折与残疾和死亡率相关，但大多数椎体骨折是无症状的。本研究旨在确定越南成人无症状椎体骨折的发生率，并制定预测图。该队列研究是越南骨质疏松研究的一部分，涉及168名男性和287名女性，年龄在50岁及以上，无临床诊断的椎体骨折。在招募和随后的2年随访中对他们的脊柱进行x光检查。采用Genant's半定量方法确定椎体骨折。我们采用贝叶斯模型平均法寻找预测无症状椎体骨折的最佳模型。还开发了一种预测图，以促进风险预测。结果在中位2.38年的随访期间，13名男性和16名女性发生无症状椎体骨折，总发生率为每1000人年28例骨折，男性为33例，女性为24例。大多数无症状椎体骨折为中度骨折，几乎是轻度骨折的1.5倍。预测无症状椎体骨折发生率的最佳模型包括年龄、男性和股骨颈下段t评分。受试者工作特征曲线下面积为0.91,95% CI范围为0.86 ~ 0.96。结论有症状的椎体骨折在越南成年人中较为常见。一个包含性别、年龄和股骨颈t评分的简单模型有助于越南个体无症状椎体骨折的选择性筛查。

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引用次数: 0

Two novel rare variants in the PTH gene found in patients with hypoparathyroidism 在甲状旁腺功能减退症患者中发现了两种新的罕见的PTH基因变异

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2025-03-01 DOI: 10.1016/j.afos.2025.02.001

Yue Jiang , An Song , Jiajia Wang , Xinqi Cheng , Jing Yang , Yan Jiang , Mei Li , Weibo Xia , Xiaoping Xing , Min Nie , Ou Wang

Objectives

Hypoparathyroidism (HP) is a rare endocrine disorder caused by parathyroid hormone (PTH) deficiency. The PTH is a candidate gene for familial isolated hypoparathyroidism (FIH). This study aimed to investigate the pathogenicity of two novel rare variants (RVs) of PTH through in vitro functional study.

Methods

Targeted next-generation sequencing was used to identify candidate gene mutations. Clinical data were retrospectively collected. Wild-type (WT) PTH was used as a template for site-directed mutagenesis to create mutant eukaryotic expression plasmids, which were transfected into cells. Treated with or without 4-phenylbutyric acid (4-PBA), the levels of intact PTH (iPTH) and PTH (1-84) were measured by chemiluminescence, and protein expression was assessed using Western blotting.

Results

Two patients carrying PTH mutations (c.154G > A: p.Val52Ile, c.270G > T: p.Leu90Phe) were identified. Patient 1, a 45-year-old male, presented with carpal and pedal numbness, muscle cramps, and low serum calcium (1.29 mmol/L). Patient 2, a 12-year-old female, had muscle twitches, convulsions, low calcium (1.50 mmol/L), and iPTH of 4 pg/mL. The iPTH or PTH (1-84) levels in the medium transfected with mutant Val52Ile and Leu90Phe PTH decreased by 31%–38%, and 51%–96% compared to WT (allP < 0.05), which were not rescued by 4-PBA. No significant changes in intracellular PTH expression were observed.

Conclusions

In this study, two novel RVs of PTH (Val52Ile and Leu90Phe) were identified that may impair hormone synthesis and secretion. Our study has broadened the mutation spectrum of the PTH and shed light on potential mechanisms underlying FIH.

目的甲状旁腺功能减退症（HP）是一种罕见的由甲状旁腺激素（PTH）缺乏引起的内分泌疾病。PTH是家族性分离性甲状旁腺功能减退症（FIH）的候选基因。本研究旨在通过体外功能研究两种新型PTH罕见变异（RVs）的致病性。方法采用靶向新一代测序技术鉴定候选基因突变。回顾性收集临床资料。利用野生型（WT） PTH作为定点诱变模板，构建真核表达质粒突变体，并将其转染到细胞中。4-苯基丁酸（4-PBA）处理或不处理后，化学发光法测定完整PTH （iPTH）和PTH（1-84）水平，Western blotting法测定蛋白表达。结果2例患者携带PTH突变(c.154G >；A: p.Val52Ile, c.270G >；T: p.Leu90Phe)。患者1,45岁男性，表现为腕和足部麻木，肌肉痉挛，低血钙（1.29 mmol/L）。患者2,12岁女性，肌肉抽搐，抽搐，低钙（1.50 mmol/L）， iPTH为4 pg/mL。转染突变体Val52Ile和Leu90Phe的培养基中iPTH或PTH（1-84）水平与WT相比分别下降31% ~ 38%和51% ~ 96% (allP <；0.05)，未被4-PBA抢救。细胞内PTH表达无明显变化。结论本研究发现两种新的PTH RVs （Val52Ile和Leu90Phe）可能影响激素的合成和分泌。我们的研究拓宽了PTH的突变谱，揭示了FIH的潜在机制。

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引用次数: 0

Disorders of bone and mineral metabolism in pregnancy and lactation: A case based clinical review 妊娠和哺乳期骨和矿物质代谢紊乱：一个基于病例的临床回顾

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2025-03-01 DOI: 10.1016/j.afos.2025.03.002

Manju Chandran , Sarah Ying Tse Tan

Bone and mineral metabolism in the human body undergoes significant adaptations during pregnancy and lactation to meet the physiological demands of both the mother and fetus. The growing fetus requires approximately 30 g of calcium, with 80% of this transferred from the mother during the third trimester. These adaptations involve complex hormonal changes, such as increased parathyroid hormone-related peptide (PTHrP) and 1,25-dihydroxyvitamin D, ensuring the mother maintains calcium balance despite fetal demands. However, these changes can also exacerbate pre-existing metabolic bone disorders, presenting unique challenges during pregnancy. This narrative review, framed around illustrative case examples, focuses on the management of metabolic bone disorders in pregnancy. Relevant case studies of hypercalcemia, hypocalcemia, hypophosphatemia, and osteoporosis and chronic kidney disease mineral bone disorder are reviewed to illustrate the biochemical changes, clinical implications, and therapeutic strategies available during pregnancy and lactation. We analyze literature from case reports and existing guidelines to provide practical clinical recommendations. The review highlights critical pregnancy-related metabolic adaptations, such as increased intestinal calcium absorption and skeletal resorption. Disorders like primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcemia present significant maternal and fetal risks, including miscarriage, growth restriction, and neonatal complications. Early identification and tailored treatment, including hydration, parathyroidectomy, and vitamin D supplementation, mitigate these risks, with surgical interventions in PHPT improving pregnancy outcomes compared to conservative management. Management of metabolic bone disorders during pregnancy and lactation requires a nuanced approach to meet the dual needs of the mother and fetus.

人体骨骼和矿物质代谢在怀孕和哺乳期间经历了重大的适应，以满足母亲和胎儿的生理需求。生长中的胎儿需要大约30克钙，其中80%在妊娠晚期从母亲那里转移过来。这些适应包括复杂的激素变化，如甲状旁腺激素相关肽（PTHrP）和1,25-二羟基维生素D的增加，以确保母亲在胎儿需要时保持钙平衡。然而，这些变化也会加剧已有的代谢性骨疾病，在怀孕期间提出独特的挑战。这叙述性审查，框架周围说明性的案例例子，侧重于代谢性骨疾病的管理在怀孕。本文回顾了高钙血症、低钙血症、低磷血症、骨质疏松症和慢性肾脏疾病矿物质骨紊乱的相关病例研究，以说明妊娠和哺乳期的生化变化、临床意义和治疗策略。我们从病例报告和现有指南中分析文献，以提供实用的临床建议。该综述强调了关键的妊娠相关代谢适应，如肠道钙吸收和骨骼吸收增加。原发性甲状旁腺功能亢进（PHPT）和家族性低钙高钙血症等疾病存在显著的母体和胎儿风险，包括流产、生长受限和新生儿并发症。早期识别和量身定制的治疗，包括水合作用、甲状旁腺切除术和维生素D补充，可以减轻这些风险，与保守治疗相比，PHPT的手术干预可以改善妊娠结局。妊娠和哺乳期代谢性骨紊乱的管理需要一种细致入微的方法来满足母亲和胎儿的双重需求。

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引用次数: 0

TOC TOC

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/S2405-5255(24)00130-4

引用次数: 0

Hip fracture and type 2 diabetes mellitus 髋部骨折和2型糖尿病。

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/j.afos.2024.11.003

Ji-Young Seo

引用次数: 0

Effects of bone metabolism on hematopoiesis: A Mendelian randomization study 骨代谢对造血的影响：一项孟德尔随机研究。

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/j.afos.2024.10.001

Shun-Cheong Ho , Gloria Hoi-Yee Li , Anskar Yu-Hung Leung , Kathryn Choon-Beng Tan , Ching-Lung Cheung

Objectives

Osteoblast is known to regulate hematopoiesis according to preclinical studies but the causal relationship in human remains uncertain. We aimed to evaluate causal relationships of bone mineral density (BMD) with blood cell traits using genetic data.

Methods

Summary statistics from the largest available genome-wide association study were retrieved for total body BMD (TBBMD), lumbar spine BMD (LSBMD), femoral neck BMD (FNBMD) and 29 blood cell traits including red blood cell, white blood cell and platelet-related traits. Using two-sample Mendelian randomization (MR) approach, inverse-variance weighted method was adopted as main univariable MR analysis. Multivariable MR (MVMR) analysis was conducted to evaluate whether the casual effect is independent of confounders.

Results

BMD was positively associated with reticulocyte-related traits, including high light scatter reticulocyte count and percentage, immature reticulocyte fraction, reticulocyte count and percentage, with causal effect estimate (beta) ranging from 0.023 to 0.064. Conversely, inverse association of BMD with hematocrit, hemoglobin, and red blood cell count was observed, with beta ranging from −0.038 to −0.019. The association remained significant in MVMR analysis after adjustment for confounders. For white blood cells, BMD was inversely associated with neutrophil count (beta: 0.029 to −0.019) and white blood cell count (beta: 0.024 to −0.02). Results across TBBMD, LSBMD, and FNBMD were consistent.

Conclusions

This study suggested bone metabolism had a causal effect on hematopoietic system in humans. Its causal effect on red blood cell traits was independent of confounders. Further studies on how improving bone health can reduce risk of hematological disorders are warranted.

目的：临床前研究表明，成骨细胞调节造血功能，但在人体内的因果关系尚不确定。我们的目的是利用遗传数据评估骨矿物质密度（BMD）与血细胞特征的因果关系。方法：从目前最大的全基因组关联研究中检索总体骨密度（TBBMD）、腰椎骨密度（LSBMD）、股骨颈骨密度（FNBMD）和29种血细胞特征（包括红细胞、白细胞和血小板相关特征）的汇总统计数据。采用双样本孟德尔随机化（MR）方法，采用反方差加权法作为主要的单变量MR分析。采用多变量MR （MVMR）分析来评估随机效应是否独立于混杂因素。结果：骨密度与网织红细胞相关性状呈正相关，包括高光散射网织红细胞计数和百分比、未成熟网织红细胞分数、网织红细胞计数和百分比，因果效应估计（beta）范围为0.023 ~ 0.064。相反，BMD与血细胞比容、血红蛋白和红细胞计数呈负相关，β值在-0.038至-0.019之间。在调整混杂因素后，MVMR分析中相关性仍然显著。对于白细胞，骨密度与中性粒细胞计数（β: 0.029至-0.019）和白细胞计数（β: 0.024至-0.02）呈负相关。TBBMD、LSBMD和FNBMD的结果一致。结论：本研究提示骨代谢对人体造血系统有因果关系。它对红细胞性状的因果影响与混杂因素无关。进一步研究如何改善骨骼健康可以降低血液系统疾病的风险是必要的。

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引用次数: 0

Erythropoietin treatment and osteoporotic fracture risk in hemodialysis patients: A nationwide population-based study 血液透析患者的促红细胞生成素治疗和骨质疏松性骨折风险：一项基于全国人群的研究。

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/j.afos.2024.11.002

Ching-Yu Lee , Fung-Chang Sung , Peir-Haur Hung , Chih-Hsin Muo , Meng-Huang Wu , Tsung-Jen Huang , Chih-Ching Yeh

Objectives

Concerns about erythropoietin (EPO) therapy for anemia in patients with end-stage renal disease (ESRD) contributing to potential bone loss and increased fracture risks are growing. This study investigated the impact of EPO administration on the risk of common osteoporotic fractures in ESRD patients.

Methods

This population-based retrospective cohort study compared EPO users and non-EPO users among ESRD patients undergoing hemodialysis, diagnosed with ESRD between 2000 and 2014 identified from the National Health Insurance Research Database of Taiwan. The cohorts were matched at a propensity score ratio of 1:1, resulting in equal sample sizes of 2839. Variables related to comorbidities were considered.

Results

EPO users exhibited higher cumulative incidences of major osteoporotic fractures, hip fractures, spine fractures, and wrist fractures compared with the non-EPO user (all P < 0.001). In adjusted Cox regression models, higher adjusted subdistribution hazard ratios (aSHRs) were observed for major osteoporotic fractures (2.41, 95% confidence interval [CI] = 2.01–2.89), osteoporotic hip fractures (2.19, 95% CI = 1.69–2.85), spine fractures (2.50, 95% CI = 1.87–3.34), and wrist fractures (2.34, 95% CI = 1.44–3.78) in EPO users than in non-EPO users. The risk of major osteoporotic fractures significantly increased with increasing EPO doses (P for trend < 0.0001), and a similar trend was observed for the risks of osteoporotic spine and wrist fractures.

Conclusions

Our findings suggest that EPO treatment in patients with ESRD undergoing hemodialysis is associated with an increased risk of osteoporotic fractures.

目的：对终末期肾病（ESRD）患者贫血的促红细胞生成素（EPO）治疗导致潜在骨质流失和骨折风险增加的担忧正在增加。本研究探讨了EPO对ESRD患者常见骨质疏松性骨折风险的影响。方法：这项基于人群的回顾性队列研究比较了2000年至2014年间接受血液透析诊断为ESRD的ESRD患者中EPO使用者和非EPO使用者。这些队列以1:1的倾向得分比匹配，结果样本量相等，为2839。考虑了与合并症相关的变量。结果：与未使用EPO的患者相比，EPO使用者表现出较高的主要骨质疏松性骨折、髋部骨折、脊柱骨折和腕部骨折的累积发生率（均为P）。结论：我们的研究结果表明，接受血液透析的ESRD患者接受EPO治疗与骨质疏松性骨折的风险增加有关。

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引用次数: 0

Osteoporosis in men—East and West: Can the twain meet? A perspective from Asia 男性骨质疏松症——东方和西方：两者能相遇吗？来自亚洲的视角。

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/j.afos.2024.11.001

Gerald Gui Ren Sng , Jean-Yves Reginster , Majed S. Alokail , Manju Chandran

Osteoporosis in men remains a significantly underrecognized condition, with notable differences in bone mineral density (BMD) and fracture risk between Asian and Western populations. Despite 30% of hip fractures globally occurring in men, they are less likely to be diagnosed or treated for osteoporosis, especially in resource-limited settings. Given these disparities, a deeper understanding of osteoporosis epidemiology and treatment efficacy in men is essential, particularly in Asian populations.

This review synthesizes the latest evidence on the epidemiology, screening, and treatment of osteoporosis in men, with a focus on genetic, environmental, and epidemiological disparities between Eastern and Western populations. Additionally, the review examines existing controversies surrounding fracture risk screening in men and evaluates the efficacy and cost-effectiveness of pharmacological treatments such as bisphosphonates, denosumab, and anabolic agents.

Asian men exhibit lower peak BMD compared to their Caucasian counterparts, leading to potential misdiagnoses when using Caucasian-based BMD reference ranges. Screening tools like the Fracture Risk Assessment Tool (FRAX)® show variability in performance across populations. Data on pharmacological treatment in men remain limited, although studies suggest comparable benefits to those observed in women. Larger studies, particularly in male and Asian populations, are urgently needed to refine diagnostic and therapeutic guidelines.

Osteoporosis in men is underdiagnosed and undertreated globally, with pronounced disparities between populations. Current diagnostic tools and treatment protocols are not fully tailored to male and Asian populations. There is an urgent need for longitudinal studies focusing on male-specific osteoporosis management to reduce fracture risk and improve outcomes.

男性骨质疏松症仍然是一种未被充分认识的疾病，亚洲和西方人群在骨密度（BMD）和骨折风险方面存在显著差异。尽管全球30%的髋部骨折发生在男性身上，但他们不太可能被诊断或治疗骨质疏松症，特别是在资源有限的环境中。鉴于这些差异，对男性骨质疏松症的流行病学和治疗效果有更深入的了解是必要的，特别是在亚洲人群中。本文综述了男性骨质疏松症的流行病学、筛查和治疗方面的最新证据，重点介绍了东西方人群在遗传、环境和流行病学方面的差异。此外，该综述调查了现有的关于男性骨折风险筛查的争议，并评估了药物治疗的疗效和成本效益，如双膦酸盐、denosumab和合成代谢药物。与白种人相比，亚洲男性表现出较低的骨密度峰值，这导致在使用基于白种人的骨密度参考范围时可能出现误诊。压裂风险评估工具（FRAX）等筛选工具在不同人群中的表现存在差异。尽管研究表明男性的药物治疗效果与女性相当，但男性的药物治疗数据仍然有限。迫切需要更大规模的研究，特别是针对男性和亚洲人群的研究，以完善诊断和治疗指南。在全球范围内，男性骨质疏松症的诊断和治疗不足，人群之间存在明显差异。目前的诊断工具和治疗方案并不完全适合男性和亚洲人群。迫切需要对男性骨质疏松症的治疗进行纵向研究，以降低骨折风险并改善预后。

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引用次数: 0

Reply on “Hip fracture and type 2 diabetes mellitus”: Bi-directional relationship between osteoporosis and diabetes “髋部骨折与2型糖尿病”：骨质疏松与糖尿病的双向关系。

IF 2.5 Q3 ENDOCRINOLOGY & METABOLISM

Osteoporosis and Sarcopenia

Pub Date : 2024-12-01 DOI: 10.1016/j.afos.2024.11.004

Suhas Krishnamoorthy, Ching-Lung Cheung

引用次数: 0

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