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Microfractures, autologous matrix-induced chondrogenesis, osteochondral autograft transplantation and autologous chondrocyte implantation for knee chondral defects: a systematic review and network meta-analysis of randomized controlled trials. 微骨折、自体基质诱导软骨生成、骨软骨自体移植物移植和自体软骨细胞植入治疗膝关节软骨缺损:随机对照试验的系统综述和网络荟萃分析。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0089
Silvia Valisena, Benjamin Azogui, Rémy S Nizard, Philippe M Tscholl, Etienne Cavaignac, Pierre-Alban Bouché, Didier Hannouche

Purpose: Despite the publication of several randomized controlled trials (RCTs), it is not clear which technique for the treatment of focal chondral and osteochondral defects of the knee grants the best clinical outcome. The aim of this network meta-analysis (NMA) was to compare the efficacy and safety of microfractures (MF), autologous chondrocyte implantation (ACI), autologous matrix-induced chondrogenesis (AMIC), osteochondral autograft transplantation (OCT) at short (< 1 year), intermediate (1-5 years) and long-term (> 5 years).

Methods: We carried out an NMA with Bayesian random-effect model, according to PRISMA guidelines. The search was performed in MEDLINE, EMBASE, Web of Science, CENTRAL, CINAHL, SPORTDiscus, clinicaltrials.gov, WHO ICTRP, from inception to November 2022. The eligibilities were randomized controlled trials on patients with knee chondral and osteochondral defects, undergoing microfractures, OCT, AMIC, ACI, without restrictions for prior or concomitant surgery on ligaments, menisci or limb alignment, prior surgery for fixation or ablation of osteochondritis dissecans fragments, and prior cartilage procedures as microfractures, drilling, abrasion, or debridement.

Results: Nineteen RCTs were included. No difference among treatments was shown in the pooled comparison of patient reported outcome measures (PROMs) at any timepoint. Safety data were not available for all trials due to the heterogeneity of reporting, but chondrospheres seemed to have lower failure and reoperation rates.

Conclusion: This NMA showed no difference for PROMs with any technique. The lower failure and reoperation rates with chondrospheres must be interpreted with caution since adverse event data was heterogenous among trials. The standardization of the efficacy and safety outcome measures for future trials on knee cartilage repair and regeneration is necessary.

目的:尽管已公布了多项随机对照试验(RCT),但治疗膝关节局灶性软骨和骨软骨缺损的哪种技术能带来最佳临床疗效仍不明确。本网络荟萃分析(NMA)旨在比较微骨折(MF)、自体软骨细胞植入(ACI)、自体基质诱导软骨生成(AMIC)、骨软骨自体移植(OCT)在短期(<1年)、中期(1-5年)和长期(>5年)的疗效和安全性:根据 PRISMA 指南,我们采用贝叶斯随机效应模型进行了 NMA 分析。从开始到 2022 年 11 月,我们在 MEDLINE、EMBASE、Web of Science、CENTRAL、CINAHL、SPORTDiscus、clinicaltrials.gov 和 WHO ICTRP 中进行了检索。研究对象为接受微骨折、OCT、AMIC、ACI治疗的膝关节软骨和骨软骨缺损患者的随机对照试验,不限制之前或同时接受过韧带、半月板或肢体对位手术,之前接受过骨软骨炎碎片固定或消融手术,以及之前接受过微骨折、钻孔、磨损或清创等软骨手术:结果:共纳入19项研究性试验。在任何时间点的患者报告结果指标(PROMs)的汇总比较中,各治疗方法均无差异。由于报告的异质性,并非所有试验都提供了安全性数据,但软骨球的失败率和再手术率似乎较低:该NMA显示,任何技术的PROM都没有差异。由于各试验的不良事件数据不尽相同,因此必须谨慎解释软骨球较低的失败率和再手术率。有必要对未来膝关节软骨修复和再生试验的疗效和安全性结果指标进行标准化。
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引用次数: 0
An update on the role of ferroptosis in the pathogenesis of osteoporosis. 铁蛋白沉积症在骨质疏松症发病机制中的最新作用。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0148
Xinhui Wu, Xiaoxin Fang, Feng Lu, Qiong Chen, Junjian Liu, Longpo Zheng

Ferroptosis is a novel form of programmed cell death, distinguished from apoptosis, autophagy, and programmed necrosis and has received much attention since it was defined in 2012. Ferroptotic cells physiologically exhibit iron metabolism dysregulation, oxidative stress, and lipid peroxidation. Morphologically, they show plasma membrane disruption, cytoplasmic swelling, and mitochondrial condensation. Osteoporosis is taken more and more seriously as the proportion of the aging population continues to increase globally. Interestingly, ferroptosis has been demonstrated to be involved in the development and progression of osteoporosis in many extant studies. The review summarizes iron metabolism, lipid peroxidation, and the different regulatory signals in ferroptosis. Changes in signaling mechanisms within osteoblasts, osteoclasts, and osteocytes after ferroptosis occur are explained here. Studies showed ferroptosis play an important role in different osteoporosis models (diabetes osteoporosis, postmenopausal osteoporosis, glucocorticoid-induced osteoporosis). Inhibitors and EC (Exos) targeting ferroptosis could ameliorate bone loss in osteoporotic mice by protecting cells against lipid peroxidation. Shortly, we hope that more effective and appropriate clinical therapy means will be utilized in the treatment of osteoporosis.

铁凋亡是程序性细胞死亡的一种新形式,有别于细胞凋亡、自噬和程序性坏死,自2012年被定义以来备受关注。铁突变细胞在生理上表现出铁代谢失调、氧化应激和脂质过氧化。从形态上看,它们表现出质膜破坏、细胞质肿胀和线粒体凝结。随着全球老龄化人口比例的不断增加,骨质疏松症越来越受到重视。有趣的是,许多现有研究已证实铁变态反应与骨质疏松症的发生和发展有关。本综述总结了铁代谢、脂质过氧化和铁变态反应中的不同调控信号。这里解释了铁变态反应发生后成骨细胞、破骨细胞和骨细胞内信号机制的变化。研究表明,铁氧化在不同的骨质疏松症模型(糖尿病骨质疏松症、绝经后骨质疏松症、糖皮质激素诱导的骨质疏松症)中发挥着重要作用。针对铁蛋白沉积的抑制剂和EC(Exos)可以通过保护细胞免受脂质过氧化作用,改善骨质疏松症小鼠的骨质流失。我们希望在不久的将来,骨质疏松症的治疗能采用更有效、更合适的临床治疗手段。
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引用次数: 0
Efficacy and safety of topical tranexamic acid in spinal surgery: a systematic review and meta-analysis. 局部氨甲环酸在脊柱手术中的疗效和安全性:系统综述和荟萃分析。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0199
Hua Luo, Xuelei Zhang, Chengxin Xie, Luxia Wu, Guoping Cai, Yu Ren

Purpose: This study aimed to assess the effects of topical tranexamic acid (tTXA) in spinal surgery to provide reliable clinical evidence for its usefulness.

Methods: The PubMed, EMBASE, Medline, and Cochrane Central Register of Controlled Trials databases were comprehensively searched to identify randomized controlled trials and non-randomized controlled trials evaluating the effect of tTXA on blood loss during spine surgery. The observation indexes were intraoperative blood loss, total blood loss, output and duration of postoperative drainage, postoperative hematological variables, length of postoperative hospital stay, blood transfusion rate, and complication rate.

Results: A total of 21 studies involving 1774 patients were included. Our results showed that the use of tTXA during spinal surgery significantly reduced the total blood loss, postoperative drainage volume, postoperative transfusion rate, duration of postoperative drainage, and postoperative hospital stay, and increased the serum hemoglobin concentration, thereby providing better clinical outcomes for surgical patients. However, tTXA had no effect on intraoperative blood loss and associated complications.

Conclusion: On the basis of the available evidence, the present results provide strong clinical evidence of the clinical value of tTXA in spinal surgery and provide an important reference for future research and clinical decision-making.

目的:本研究旨在评估外用氨甲环酸(tTXA)在脊柱手术中的效果,为其有效性提供可靠的临床证据:方法:对 PubMed、EMBASE、Medline 和 Cochrane Central Register of Controlled Trials 数据库进行了全面检索,以确定评估氨甲环酸对脊柱手术失血影响的随机对照试验和非随机对照试验。观察指标包括术中失血量、总失血量、术后引流量和引流时间、术后血液学变量、术后住院时间、输血率和并发症发生率:结果:共纳入 21 项研究,涉及 1774 名患者。结果:共纳入 21 项研究,涉及 1774 名患者。研究结果表明,在脊柱手术中使用 tTXA 能显著减少总失血量、术后引流量、术后输血率、术后引流时间和术后住院时间,并能提高血清血红蛋白浓度,从而为手术患者提供更好的临床疗效。然而,tTXA 对术中失血量和相关并发症没有影响:在现有证据的基础上,本研究结果为 tTXA 在脊柱手术中的临床价值提供了有力的临床证据,为今后的研究和临床决策提供了重要参考。
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引用次数: 0
Leg length discrepancy after total hip arthroplasty performed by direct anterior approach: a systematic review comparing surgical approaches and strategies for prevention. 通过直接前路进行全髋关节置换术后的腿长差异:比较手术方法和预防策略的系统综述。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0116
Leonardo Tassinari, Alberto Di Martino, Matteo Brunello, Valentino Rossomando, Francesco Traina, Cesare Faldini

Purpose: Leg length discrepancy (LLD) is a common complication following total hip arthroplasty (THA). The direct anterior approach (DAA) for THA is gaining popularity due to its advantages, but there is limited research on the incidence and size of LLD. This systematic review aims to explore the differences in LLD between DAA and other approaches, as well as the techniques to control LLD in DAA.

Methods: A comprehensive literature search was conducted to identify relevant studies comparing THA by DAA with other surgical approaches and investigating methods to control LLD in DAA, following PRISMA guidelines and a priori registration on PROSPERO (CRD42023412644). The quality of the included studies was assessed. Data on preoperative and postoperative LLD and other relevant outcomes were extracted and analyzed descriptively.

Results: In total, 29 studies were included in this systematic review. The majority (86%) were classified as level IV evidence. Comparisons between DAA and posterior approach (PA) or anterolateral approach (ALA) showed DAA had lower rates of LLD >10 mm compared to PA and ALA. Different pre- and intra-operative techniques were evaluated, but no consensus on the best method for preventing LLD in DAA was reached.

Conclusion: DAA shows comparable or superior results in the prevention of LLD compared to other surgical approaches. Supine patient placement, direct leg measurement, and the use of IF contribute to these outcomes. Intraoperative fluoroscopy with a grid and preoperative planning offers a good option, especially for training purposes, but its role in preventing LLD by experienced DAA surgeons needs further investigation.

目的:腿长不一致(LLD)是全髋关节置换术(THA)后常见的并发症。直接前方入路(DAA)因其优势而越来越受欢迎,但有关 LLD 发生率和大小的研究却很有限。本系统性综述旨在探讨DAA与其他方法在LLD方面的差异,以及在DAA中控制LLD的技术:方法:按照PRISMA指南并事先在PROSPERO(CRD42023412644)上注册,进行了全面的文献检索,以确定比较DAA与其他手术方法的THA以及调查控制DAA中LLD的方法的相关研究。对纳入研究的质量进行了评估。提取术前和术后 LLD 及其他相关结果的数据,并进行描述性分析:本系统综述共纳入 29 项研究。结果:本系统综述共纳入 29 项研究,其中大部分(86%)被列为 IV 级证据。DAA与后路(PA)或前外侧路(ALA)的比较显示,与PA和ALA相比,DAA的LLD>10 mm的发生率较低。对不同的术前和术后技术进行了评估,但并未就预防DAA术中LLD的最佳方法达成共识:结论:与其他手术方法相比,DAA在预防LLD方面的效果相当或更好。结论:与其他手术方法相比,DAA 在预防 LLD 方面的效果相当或更优。患者仰卧位、直接腿部测量和 IF 的使用有助于取得这些结果。带网格的术中透视和术前计划提供了一个很好的选择,尤其是用于培训目的,但其在有经验的 DAA 外科医生预防 LLD 方面的作用还需要进一步研究。
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引用次数: 0
Metal-on-metal hip resurfacing arthroplasty: is it safe and reliable? A synopsis of the past, the present, and the future of HRA. 金属对金属髋关节置换术:它安全可靠吗?HRA的过去、现在和未来简介。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0099
Feng Xie, Shuya Sheng, Jeya Palan, Hemant G Pandit

This paper discusses the existing literature in the field of metal-on-metal (MoM) hip resurfacing arthroplasty (HRA), the background (why was it developed), the past (what was the evidence leading to its rise and fall in clinical use), the present situation (why a potential resurgence), and the future directions for potential improvements. All literature relevant to MoM HRA was reviewed and summarized to provide a comprehensive summary. Furthermore, a detailed literature search was performed on PubMeD, MEDLINE, and Google Scholar to identify all clinical studies reporting a minimum 10 years of outcomes for modern MoM HRA devices from February 2018 to February 2023. In addition, joint registry data over the same time period, available in the public domain, was examined to extract related information on MoM HRA. Metal ions are present in almost all types of hip replacement; on the whole, however, the risk of revision for resurfacing due to metal-related pathologies is very low, but higher than in other types of bearings. There are studies that show that some brands of MoM resurfacing prostheses have achieved excellent clinical outcomes in long-term follow-up studies and are still in use although less commonly than in early 2000s. Use of alternative bearing surfaces has demonstrated excellent results in the short-term and a very critical long-term follow-up of these cases still will help establish their place in the hip arthroplasty world. HRA deserves a permanent place in the armamentarium of orthopedic surgeons and in the hand of experienced surgeons.

本文讨论了金属(MoM)髋关节置换术(HRA)领域的现有文献、背景(为什么要开发这种手术)、过去(导致其在临床应用中兴衰的证据是什么)、现状(为什么可能重新兴起)以及未来可能改进的方向。对所有与 MoM HRA 相关的文献进行了回顾和总结,以提供一份全面的摘要。此外,还在 PubMeD、MEDLINE 和 Google Scholar 上进行了详细的文献检索,以确定所有报告现代 MoM HRA 设备从 2018 年 2 月到 2023 年 2 月至少 10 年疗效的临床研究。此外,还研究了公共领域中可获得的同期联合登记数据,以提取有关 MoM HRA 的相关信息。金属离子几乎存在于所有类型的髋关节置换术中;但总体而言,因金属相关病变导致的再置换术翻修风险非常低,但高于其他类型的轴承。有研究表明,在长期随访研究中,某些品牌的MoM重置假体取得了很好的临床疗效,目前仍在使用,但使用率较2000年代初有所下降。使用替代轴承表面在短期内取得了极佳的效果,对这些病例进行非常关键的长期随访仍将有助于确立它们在髋关节置换术领域的地位。髋关节置换术在矫形外科医生和经验丰富的外科医生的手中理应占有一席之地。
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引用次数: 0
Do we need another screw? Sacroiliac screw fixation in open-book pelvic ring injuries (APC type II). 我们还需要另一颗螺钉吗?开卷骨盆环损伤(APC II 型)中的骶髂螺钉固定。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0173
Martin C Jordan, Konrad F Fuchs, Steven C Herath, Joachim Windolf, Rainer H Meffert, Anne Neubert

Purpose: To compare anterior plate fixation (SP fixation) both alone and in combination with an additional posterior sacroiliac screw (SP+SIS fixation) as a treatment for pelvic ring injuries with widening of the pubic symphysis and disruption to the anterior sacroiliac ligaments.

Methods: To find studies with pelvic ring injuries (APC II; B2.3d) and SP or SP+SIS fixation, a systematic literature review was conducted by searching four databases. A protocol was published a priori at Open Science Framework (https://doi.org/10.17605/OSF.IO/3YHAV). Exclusion criteria included perineal injuries, chronic instability of the symphysis, complete sacroiliac separation, and pediatric patients (age <18 years). Primary outcomes of interest were defined as implant failure, health-related quality of life, and revision rate.

Results: Altogether, 1861 studies were screened, and 40 studies qualified for full-text analysis. In total, 14 studies (two surveys, six biomechanical studies, and six retrospective clinical studies) were included. The surveys revealed that surgeons who had more recently begun practicing were more likely to use posterior fixation (SP+ISS). The biomechanical studies were heterogenous and did not yield a uniform pattern. In clinical studies, 117 patients (45%) received SP fixation, and 142 patients (55%) received SP+SIS fixation. Complications occurred in 31 SP patients (30%) and in five SP+SIS patients (3.5%).

Conclusion: A high risk of bias was uncovered, and reporting was found to be incomplete. SP+SIS may have the potential to improve outcomes, but the evidence remains too inconclusive to draw reliable recommendations.

目的:比较前钢板固定术(SP固定术)单独使用和结合骶髂后螺钉固定术(SP+SIS固定术)治疗耻骨联合增宽和骶髂前韧带损伤的骨盆环损伤:为了找到有关骨盆环损伤(APC II; B2.3d)和SP或SP+SIS固定的研究,我们通过搜索四个数据库进行了系统性文献综述。事先已在开放科学框架(https://doi.org/10.17605/OSF.IO/3YHAV)上发布了协议。排除标准包括会阴损伤、干骺端慢性不稳定、完全骶髂分离和儿童患者(年龄 结果):共筛选出 1861 项研究,40 项研究符合全文分析条件。共纳入 14 项研究(2 项调查、6 项生物力学研究和 6 项回顾性临床研究)。调查显示,新近开始执业的外科医生更倾向于使用后路固定(SP+ISS)。生物力学研究的结果各不相同,没有形成统一的模式。在临床研究中,117 名患者(45%)接受了 SP 固定,142 名患者(55%)接受了 SP+SIS 固定。31例SP患者(30%)和5例SP+SIS患者(3.5%)发生了并发症:结论:发现偏倚风险很高,报告不完整。SP+SIS可能有改善预后的潜力,但证据仍不明确,无法得出可靠的建议。
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引用次数: 0
Methods for three-dimensional characterization of the acetabulum prior to pelvic reorientation osteotomy: a scoping review. 骨盆重新定向截骨术前髋臼三维特征描述方法:范围综述。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-22-0126
Xavier du Cluzel de Remaurin, Nejib Khouri, Samuel Georges, Laurent Gajny, Claudio Vergari, Alina Badina

Periacetabular osteotomy is the gold standard treatment for acetabular dysplasia. The great variability of acetabular dysplasia requires a personalized preoperative planning improved by 3D reconstruction and computer-assisted surgery. To plan the displacement of the acetabular fragment by a pelvic osteotomy, it is necessary to define a reference plane and a method to characterize 3D acetabular orientation. A scoping review was performed on PubMed to search for articles with a method to characterize the acetabulum of native hips in a 3D reference frame. Ninety-eight articles out of 3815 reports were included. Three reproducible reference planes were identified: the anterior pelvic plane, the Standardization and Terminology Committee plane used in gait analysis, and the sacral base plane. The different methods for 3D analysis of the acetabulum were divided in four groups: global orientation, triplanar measurements, segmentation, and surface coverage of the femoral head. Two methods were found appropriate for reorientation osteotomies: the global orientation by a vector method and the triplanar method. The global orientation method relies on the creation of a vector from the acetabular rim, from the acetabular surface or from successive planes. Normalization of the global acetabular vector would correct acetabular dysplasia by a single alignment maneuver on an ideal vector. The triplanar method, based on angle measurements at the center of the femoral head, would involve correction of anomalies by considering axial, frontal, and sagittal planes. Although not directly fit for reorientation, the two others would help to candidate patients and verify both planning and postoperative result.

髋臼周围截骨术是治疗髋臼发育不良的金标准。髋臼发育不良的变异性很大,需要通过三维重建和计算机辅助手术来改进个性化的术前规划。为了通过骨盆截骨术规划髋臼碎片的移位,有必要定义一个参考平面和一种表征三维髋臼方向的方法。我们在PubMed上进行了一次范围审查,以搜索具有在三维参考框架中描述原生髋关节髋臼的方法的文章。3815篇报告中的98篇文章被纳入其中。确定了三个可重复的参考平面:骨盆前平面、标准化和术语委员会用于步态分析的平面以及骶骨底平面。髋臼三维分析的不同方法分为四组:整体定向、三平面测量、分割和股骨头表面覆盖。有两种方法适用于重新定向截骨术:矢量全局定向法和三平面法。全局定位法依赖于从髋臼边缘、髋臼表面或连续平面创建一个矢量。对髋臼整体向量进行归一化处理后,只需在理想向量上进行一次对齐操作,即可矫正髋臼发育不良。三平面法以股骨头中心的角度测量为基础,通过考虑轴向、正面和矢状平面来矫正异常。虽然这两种方法不能直接用于调整方向,但有助于对患者进行候选,并验证规划和术后结果。
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引用次数: 0
Prevalence and related factors for neck pain in military personnel: a systematic review. 军人颈部疼痛的发病率和相关因素:系统综述。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0150
Le Tang, Yong-Hui Zhang, Shu-Hao Du, Xue-Qiang Wang

Purpose: In the military, neck pain is second to low back pain among musculoskeletal disorders. However, the prevalence and related factors of neck pain in military personnel have not been systematically investigated, which may lead to the lack of neck pain prevention and the generation of additional medical expenses, posing challenges to medical care. This review aimed to obtain the prevalence and related factors for neck pain in military personnel in an attempt to provide directions for prevention and intervention.

Methods: We searched PubMed, Embase, and Cochrane databases in December 2021. Two researchers independently screened studies according to eligibility criteria and assessed study quality.

Results: We screened titles and abstracts of 503 articles, and 17 articles met the inclusion criteria. Sixteen articles received moderate to high-quality evaluations. Neck pain is common in the military, with 1-year prevalence as high as 83% and lifetime prevalence as high as 78%. Old age (OR = 5.0), poor neck mobility (OR = 3.61), shoulder pain (OR = 4.9), low back pain (OR = 2.3), high-G pilots (OR = 1.6), longer flight time (OR = 2.53), type of aircraft (OR = 3.93), and use of helmets and night vision systems (OR = 1.9) may be associated with the prevalence of neck pain.

Conclusion: Neck pain is highly prevalent in military personnel and exhibits a substantial lifetime prevalence rate. The high prevalence rate of neck pain in the military is related to many individual-related factors and work-related factors. The in-depth assessment and prevention of specific factors is an important direction of future research.

目的:在军队中,颈部疼痛是仅次于腰背痛的肌肉骨骼疾病。然而,军人颈部疼痛的患病率及相关因素尚未得到系统研究,这可能导致颈部疼痛预防工作的缺失,并产生额外的医疗费用,给医疗护理工作带来挑战。本综述旨在了解军人颈部疼痛的患病率和相关因素,试图为预防和干预提供方向:我们检索了 2021 年 12 月的 PubMed、Embase 和 Cochrane 数据库。两名研究人员根据资格标准独立筛选研究并评估研究质量:我们筛选了 503 篇文章的标题和摘要,有 17 篇文章符合纳入标准。16篇文章获得了中度到高质量的评价。颈部疼痛在军队中很常见,1 年患病率高达 83%,终生患病率高达 78%。年龄大(OR = 5.0)、颈部活动能力差(OR = 3.61)、肩痛(OR = 4.9)、腰痛(OR = 2.3)、高 G 飞行员(OR = 1.6)、飞行时间长(OR = 2.53)、飞机类型(OR = 3.93)以及使用头盔和夜视系统(OR = 1.9)可能与颈部疼痛的发生率有关:结论:颈部疼痛在军人中发病率很高,而且终生发病率很高。军队中颈部疼痛的高发病率与许多个人相关因素和工作相关因素有关。对特定因素进行深入评估和预防是未来研究的重要方向。
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引用次数: 0
Molecular genetics of Dupuytren's contracture. 杜普伊特伦挛缩症的分子遗传学。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0056
Shankar Aissvarya, King-Hwa Ling, Manohar Arumugam, Karuppiah Thilakavathy

Dupuytren's contracture (DC) is a fibroproliferative disorder of the palmar fascia characterised by the digits' flexion contractures and is associated with abnormal build-up of type III collagen. The prevalence of the disease is reported to be highest among Northern European descendants. However, the disease is widespread globally with varying prevalence. DC is a multifactorial disease, having both genetic and environmental factors contributing to the causality of the disease. Over the years, various studies have been conducted to understand the molecular mechanism and genetic aspects of DC but there is a lack of reports on the variants found in the exonic regions. Most reports are backdated making it necessary to re-evaluate the variants to further understand the genetic aetiology of DC. In this review, we first highlight the genetic aspects and previous genetic studies on DC. The report is followed by a discussion on the molecular pathways suggested to be associated with DC and a summary of the genetic variants in the exonic regions found in DC and their connections with the molecular pathways. A total of nine variants were reported originating from six genes comprising three pathways. Most variants reported are involved in the Wnt signalling pathway. Moreover, all variants identified are in European/Caucasian subjects and the variants found in the exonic regions are missense variants. A comparison of these findings with variants from populations of other regions can be conducted to identify the variants with the most occurrence to act as biomarkers or therapeutic targets for DC.

杜普伊特伦挛缩症(Dupuytren's contracture,DC)是一种手掌筋膜纤维增生性疾病,以手指屈曲挛缩为特征,与 III 型胶原蛋白的异常堆积有关。据报道,该病在北欧后裔中发病率最高。不过,该病在全球广泛流行,发病率各不相同。DC 是一种多因素疾病,遗传和环境因素都是致病原因。多年来,为了解 DC 的分子机制和遗传学方面的问题,人们进行了各种研究,但缺乏关于在外显子区域发现变异的报告。大多数报告都是过时的,因此有必要重新评估这些变异,以进一步了解 DC 的遗传病因。在这篇综述中,我们首先强调了 DC 的遗传学方面和以前的遗传学研究。随后,我们讨论了与 DC 相关的分子通路,并总结了在 DC 外显子区发现的遗传变异及其与分子通路的联系。据报道,共有九个变异源于六个基因,包括三个途径。报告的大多数变异涉及 Wnt 信号通路。此外,所有发现的变异均来自欧洲/高加索受试者,在外显子区域发现的变异均为错义变异。可以将这些发现与其他地区人群的变异进行比较,以确定哪些变异最有可能成为 DC 的生物标记物或治疗靶标。
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引用次数: 0
Redisplacement rate after bony hip reconstructive surgery in nonambulatory patients with cerebral palsy: a systematic review and meta-analysis. 不行动的脑瘫患者骨性髋关节重建手术后的再置换率:系统回顾和荟萃分析。
IF 4.3 2区 医学 Q1 ORTHOPEDICS Pub Date : 2024-08-01 DOI: 10.1530/EOR-23-0043
Heide Delbrück, Yannik Gehlen, Frank Hildebrand, Reinald Brunner

Purpose: Up to 90% of nonambulatory patients with cerebral palsy (CP) experience hip displacement during their lifetime. Reconstructive surgery is recommended. Redisplacement rate is an outcome parameter.

Methods: In a systematic literature review (MEDLINE, Embase and CENTRAL databases) until January 2023 we searched for reports with redisplacement rates after bony hip reconstructive surgery in nonambulatory patients. Quantitative data synthesis, subgroup analysis and meta-regression with moderators were carried out.

Results: The pooled mean redisplacement rate was 16% (95% CI: 12-21%) with a prediction interval of 3-51% (Q: 149; df: 32; P < 0.001; I2: 78%; τ2: 0.67 and τ: 0.82) in 28 studies (1540 hips). Varus derotation osteotomy (VDRO) alone showed a higher redisplacement rate than VDRO + pelvic osteotomy (30% vs 12%, P < .0001). Mean age in the VDRO-alone subgroup was 7.1 years and in the combined group 9.5 years (P = .004). In meta-regression, lower redisplacement rates were observed with higher preoperative migration index (MI) (correlation coefficient: -0.0279; P = .0137), where comprehensive surgery was performed. Variance in true effects are explained by type of bone surgery (57%), preoperative MI (11%), age (5%) and MI for definition of failure (20%). No significant reduction in the redisplacement rate could be observed over the mid-years of studies (1977-2015).

Conclusion: Our pooled data support the more extensive surgical approach in patients with high preoperative MI and emphasize the superiority of combined surgery. Studies should report a coordinated set of parameters and outcome classifications according to internationally accepted gradings to reduce redisplacement in future.

目的:多达 90% 的不能行走的脑瘫(CP)患者在其一生中都会出现髋关节移位。建议进行重建手术。再移位率是一项结果参数:在 2023 年 1 月之前的系统性文献综述(MEDLINE、Embase 和 CENTRAL 数据库)中,我们搜索了有关非行动不便患者骨性髋关节重建手术后再移位率的报告。我们进行了定量数据综合、亚组分析和带调节器的元回归:28项研究(1540个髋关节)的汇总平均再移位率为16%(95% CI:12-21%),预测区间为3-51%(Q:149;df:32;P<0.001;I2:78%;τ2:0.67;τ:0.82)。与VDRO+骨盆截骨术相比,单纯的VDRO+骨盆截骨术显示出更高的再移位率(30% vs 12%,P < .0001)。单独 VDRO 亚组的平均年龄为 7.1 岁,联合组的平均年龄为 9.5 岁(P = .004)。在元回归中,术前移位指数(MI)越高(相关系数:-0.0279;P = .0137),进行综合手术的再移位率越低。骨手术类型(57%)、术前迁移指数(11%)、年龄(5%)和定义失败的迁移指数(20%)解释了真实效应的差异。在研究的中间年份(1977-2015 年),没有观察到再置换率的明显降低:我们的汇总数据支持对术前MI较高的患者采取更广泛的手术方法,并强调了联合手术的优越性。研究应根据国际公认的分级标准报告一套协调的参数和结果分类,以减少未来的再置换。
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Efort Open Reviews
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