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Achondroplasia current concept of orthopaedic management. 软骨发育不全症矫形治疗的当前概念。
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-08-27 eCollection Date: 2024-10-01 DOI: 10.1177/18632521241269340
Gabriel T Mindler, Alexandra Stauffer, Catharina Chiari, Kiril Mladenov, Joachim Horn

Achondroplasia, the most common form of inherited disproportionate short stature, is caused by mutations in the fibroblast growth factor receptor 3 gene. The typical clinical features of achondroplasia include short stature, rhizomelic disproportion, joint hyperlaxity, spinal deformity and deformity of the upper and lower limbs. The latter are among the challenges of state-of-the-art orthopaedic treatment plans and significantly contribute to the burden of the disease in individuals with achondroplasia. Multidisciplinary preoperative individual decision-making concerning surgical interventions should be considered. New medical treatments for achondroplasia have been developed and (some) have been approved for clinical use in several countries. While the number of research articles on achondroplasia is increasing rapidly, many unknown or controversial orthopaedic topics remain. Furthermore, in view of new medical developments with improvements in growth and potentially other effects, the timing and algorithms of orthopaedic treatments (e.g. guided growth, limb lengthening and deformity correction) need to be re-evaluated. While standing height is the primary research focus in medical therapy, it is crucial to comprehensively assess orthopaedic parameters in this multifactorial disease. The current treatment of patients with achondroplasia requires specialised multidisciplinary centres with transitional care and individual orthopaedic counselling.

软骨发育不全症是一种最常见的遗传性矮小,是由成纤维细胞生长因子受体 3 基因突变引起的。软骨发育不全症的典型临床特征包括身材矮小、根茎发育不全、关节过度松弛、脊柱畸形和上下肢畸形。后者是最先进的矫形治疗方案所面临的挑战之一,并极大地加重了软骨发育不全患者的疾病负担。在手术干预方面,应考虑多学科术前个体决策。目前已开发出治疗软骨发育不全的新药物,其中一些已在多个国家获准用于临床。虽然有关软骨发育不全的研究文章数量正在迅速增加,但仍有许多未知或有争议的矫形课题。此外,鉴于新的医学发展对生长和潜在的其他影响有所改善,矫形治疗(如引导生长、肢体延长和畸形矫正)的时机和算法需要重新评估。虽然站立高度是医学治疗的主要研究重点,但全面评估这种多因素疾病的矫形参数也至关重要。目前对软骨发育不全患者的治疗需要专门的多学科中心提供过渡性护理和个体矫形咨询。
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引用次数: 0
Initial management of pediatric Gustilo-Anderson type I upper limb open fractures: Are antibiotics enough? 小儿古斯蒂洛-安德森I型上肢开放性骨折的初期处理:抗生素就够了吗?
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-08-27 eCollection Date: 2024-10-01 DOI: 10.1177/18632521241262973
Olufemi Olatigbe, Sabba Hussain, Anna Bridgens, Shamim Umarji, Caroline Hing, Fergal Monsell, Yael Gelfer

Purpose: The British Orthopaedic Association Standards for Trauma-4 includes pediatric Gustilo-Anderson type I upper limb open fractures and recommends surgical debridement as the preferred method of treatment. The reported incidence of fracture-related infection is low in patients with this injury pattern and the evidence supporting debridement is therefore weak. The aim of this systematic review is to compare infection rates between non-operative management and operative debridement in children with Gustilo I upper limb fractures who did not require surgical fixation.

Methods: A systematic review was conducted using the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Eligibility criteria included patients <18 years with Gustilo-Anderson type I upper limb fractures managed with either antibiotics alone or with operative debridement. Patients in whom the fracture was stabilized were excluded, and the Risk Of Bias In Non-randomized Studies-of Interventions tool was used to evaluate bias.

Results: Eleven, predominantly retrospective studies were identified, involving 537 patients with fractures including 466 forearm, 70 wrist, and one humerus. A non-operative management strategy was used in 293 patients with one superficial infection (0.3%). Operative debridement was used in 244 patients with one superficial infection (0.4%).

Conclusion: The optimal management of Gustilo-Anderson type I pediatric upper limb fractures is unclear. Based on the current evidence base, surgical debridement does not appear to reduce the rate of infection. The decision to manage these injuries aggressively should therefore be individualized to consider patient age, mechanism, and clinical extent of injury.

Level of evidence: level II.

目的:英国骨科协会《创伤标准-4》包括小儿古斯蒂洛-安德森 I 型上肢开放性骨折,并建议首选手术清创治疗方法。据报道,在这种损伤模式的患者中,骨折相关感染的发生率较低,因此支持清创的证据不足。本系统性综述旨在比较不需要手术固定的古斯蒂洛Ⅰ型上肢骨折患儿在非手术治疗和手术清创治疗之间的感染率:方法:采用系统综述和元分析首选报告项目指南进行系统综述。资格标准包括患者:共确定了 11 项主要为回顾性的研究,涉及 537 名骨折患者,其中包括 466 名前臂骨折患者、70 名腕部骨折患者和 1 名肱骨骨折患者。293 名患者采用了非手术治疗策略,其中有一名患者发生了表皮感染(0.3%)。244例患者(0.4%)发生表皮感染,采用了手术清创疗法:结论:Gustilo-Anderson I型小儿上肢骨折的最佳治疗方法尚不明确。根据目前的证据基础,手术清创似乎并不能降低感染率。因此,在决定是否积极处理这些损伤时,应根据患者的年龄、受伤机制和临床程度进行个体化处理。
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引用次数: 0
Effect of femoral derotational osteotomy in patients with idiopathic increased femoral anteversion on joint loading and muscular demands. 对特发性股骨外翻患者进行股骨外翻截骨术对关节负荷和肌肉需求的影响。
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-08-11 eCollection Date: 2024-10-01 DOI: 10.1177/18632521241269339
Nathalie Alexander, Johannes Cip, Reinald Gh Brunner, Enrico De Pieri

Purpose: This study aimed to analyse the effect of the femoral derotational osteotomy (FDRO) on joint kinematics, kinetics, joint and muscle forces, and muscle moments in patients with idiopathic increased femoral anteversion compared with typically developing children (TDC).

Methods: In this retrospective study, 17 patients (25 limbs, 13.2 ± 2.2 years, femoral anteversion = 49.0° ± 7.1°) were compared to nine TDC (9 limbs, 12.0 ± 3.0 years, femoral anteversion = 18.7° ± 4.1°). Gait analysis was performed 8.5 ± 7.2 months pre-surgery and 17.3 ± 5.5 months post-surgery. Joint angles, moments and forces as well as muscle forces and muscle contributions to joint moments were analysed using statistical parametric mapping.

Results: Significant improvements in kinematics (hip rotation, foot progression, knee and hip flexion) were observed pre- to post-FDRO. Joint forces remained unaltered after surgery and did not differ from TDC. Gluteus minimus and deep external rotators muscle forces decreased in mid-stance, while adductor muscle forces increased during stance post-op compared to pre-op. Due to an improved knee extension postoperatively, the rectus femoris muscle force decreased to normal values during mid- and terminal stance. Postoperatively, only the deep external rotator muscle forces differed from TDC.

Conclusions: This study showed that FDRO can restore muscle forces and muscle contributions to joint moments in addition to normal gait kinematics, while joint contact forces remain within normative ranges. This knowledge might also apply to other conditions in which pathological femoral anteversion is present.

目的:本研究旨在分析股骨外翻截骨术(FDRO)对特发性股骨外翻患者与发育正常儿童(TDC)的关节运动学、动力学、关节力、肌肉力和肌肉力矩的影响:在这项回顾性研究中,17 名患者(25 肢,13.2 ± 2.2 岁,股骨内翻 = 49.0° ± 7.1°)与 9 名 TDC(9 肢,12.0 ± 3.0 岁,股骨内翻 = 18.7° ± 4.1°)进行了比较。步态分析在手术前 8.5 ± 7.2 个月和手术后 17.3 ± 5.5 个月进行。使用统计参数图分析了关节角度、力矩和力量以及肌肉力量和肌肉对关节力矩的贡献:从 FDRO 术前到术后,运动学(髋关节旋转、足前伸、膝关节和髋关节屈曲)均有明显改善。术后关节力保持不变,与 TDC 没有差异。臀小肌和深外转肌在中段站立时的肌力下降,而内收肌在术后站立时的肌力与术前相比有所增加。由于术后膝关节伸展能力得到改善,股直肌在中段和末段站立时的肌力降至正常值。术后,只有深外转肌肌力与 TDC 存在差异:这项研究表明,除了正常的步态运动学外,FDRO 还能恢复肌肉力量和肌肉对关节力矩的贡献,而关节接触力则保持在正常范围内。这些知识可能也适用于存在病理性股骨内翻的其他情况。
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引用次数: 0
Management of pediatric distal humerus metaphyseal-diaphyseal junction fracture: A systematic review and meta-analysis. 小儿肱骨远端骺端-骺端交界处骨折的处理:系统回顾和荟萃分析。
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-06-22 eCollection Date: 2024-08-01 DOI: 10.1177/18632521241262169
Ahmad Saeed Aly, Ahmed Mohsen Mohamed, Mohamed Ahmed Al Kersh

Purpose: Fractures occurring at the metaphyseal-diaphyseal junction of the distal humerus in children are not commonly documented in the literature. Until this moment, there is no gold standard technique regarding its management and most surgeons treat it as a regular supracondylar humerus fracture by conventional pinning. This systematic review explores the relevant literature to assess the efficacy of different techniques.

Methods: This review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Our literature search encompassed several online databases, including PUBMED/MEDLINE, Scopus, Web of Science Core Collection, and Google Scholar. Data from articles that met our general inclusion criteria were extracted and categorized into treatment method groupings. Functional and cosmetic outcomes, demographic characteristics, and complications were the main parameters used to analyze the data.

Results: Ten retrospective studies met our inclusion criteria with a total of 178 participants of unilateral pediatric distal humerus metaphyseal-diaphyseal junction fractures. Most literature chose closed reduction and percutaneous pinning in seven articles, followed by elastic stable intramedullary nail technique used in three articles, then conservative treatment was chosen in two articles, while only one article used lateral miniplate and assisted K-wire and another article used combined closed reduction and percutaneous pinning and intramedullary K-wire. As regards the operation time; elastic stable intramedullary nails had the shortest time with a mean of 39.7 min (range: 37.5-41.9 min), while closed reduction and percutaneous pinning had the longest time with a mean of 75.47 min (range: 55.9-92.1 min). The shortest healing time was observed in miniplate with a mean of 7.2 weeks, while the most prolonged was in conservative management with a mean of 12 weeks and closed reduction and percutaneous pinning was a mean of 10 weeks. Regarding Flynn's criteria, all participants received excellent and good except in closed reduction and percutaneous pinning; 13 cases were fair and 2 cases were poor. Regarding complications, the most commonly observed complication after metaphyseal-diaphyseal junction fracture was cubitus varus, the highest incidence was in conservative management (33% of cases), followed by closed reduction and percutaneous pinning (10.9% of cases), the least incidence was observed in elastic stable intramedullary nails (3.77% of cases), and none of the cases treated with mini plate developed this complication. Other complications were observed only with closed reduction and percutaneous pinning; 8.5% of cases developed fixation loss, 6.2% of cases had a significantly reduced range of motion, and one case refractured.

Conclusion: Pediatric distal humerus metaphyseal-diaphyseal junction fractures

目的:发生在儿童肱骨远端骺端-骺端交界处的骨折在文献中并不多见。到目前为止,还没有关于其治疗的金标准技术,大多数外科医生将其作为普通的肱骨髁上骨折,采用传统的固定方法进行治疗。这篇系统性综述探讨了相关文献,以评估不同技术的疗效:本综述根据《系统综述和元分析首选报告项目》指南进行。我们的文献搜索涵盖多个在线数据库,包括 PUBMED/MEDLINE、Scopus、Web of Science Core Collection 和 Google Scholar。我们从符合一般纳入标准的文章中提取数据,并按治疗方法分组。功能和美容效果、人口统计学特征和并发症是分析数据的主要参数:10项回顾性研究符合我们的纳入标准,共有178人参与了单侧小儿肱骨远端骺端-骺端交界处骨折的研究。大多数文献选择了闭合复位和经皮穿刺,有7篇;其次是弹性稳定髓内钉技术,有3篇;然后是保守治疗,有2篇;只有1篇采用了外侧小钢板和辅助K线,另一篇采用了闭合复位、经皮穿刺和髓内K线联合治疗。在手术时间方面,弹性稳定髓内钉的时间最短,平均为 39.7 分钟(范围:37.5-41.9 分钟),而闭合复位和经皮穿刺的时间最长,平均为 75.47 分钟(范围:55.9-92.1 分钟)。微型钢板治疗的愈合时间最短,平均为 7.2 周,而保守治疗的愈合时间最长,平均为 12 周,闭合复位和经皮穿刺治疗的愈合时间平均为 10 周。根据 Flynn 的标准,除闭合复位和经皮穿刺外,所有参与者的疗效均为优和良;13 例为良,2 例为差。在并发症方面,骺板-骺板交界处骨折后最常见的并发症是立方体后凸,保守治疗的发生率最高(33%的病例),其次是闭合复位和经皮置入钉治疗(10.9%的病例),弹性稳定髓内钉治疗的发生率最低(3.77%的病例),使用迷你钢板治疗的病例中没有一个出现这种并发症。其他并发症仅在闭合复位和经皮钉入治疗中出现;8.5%的病例出现固定缺失,6.2%的病例活动范围明显缩小,1例发生骨折:结论:小儿肱骨远端骺端-二骺端交界处骨折应与更常见的肱骨髁上骨折区分开来,因为传统的固定技术并发症发生率更高,且手术时间和愈合时间都会延长:证据等级:III。
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引用次数: 0
Is choice of approach associated with risk of avascular necrosis in pediatric septic hip? 小儿化脓性髋关节发生血管性坏死的风险与手术方式的选择有关吗?
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-06-17 eCollection Date: 2024-08-01 DOI: 10.1177/18632521241262167
Shrey Nihalani, Francis Cruz, Jacob K Hawkins, Branum Gage Griswold, Scott E Mabry, Gerald McGwin, Shawn R Gilbert, Michael J Conklin

Purpose: Septic arthritis of the hip in children and adolescents is a common condition requiring timely diagnosis and intervention. Surgical irrigation and debridement is typically performed through the anterior approach because of concerns about injury to the medial femoral circumflex artery leading to avascular necrosis. While there are multiple studies investigating the sequelae of anterior and medial approaches for reduction of developmental dislocation of the hip, none have compared these approaches for the pediatric septic hip. We hypothesize that there will be no significant difference in the rate of avascular necrosis when comparing the medial and anterior approaches to the septic hip in pediatric patients.

Methods: A retrospective review was performed of pediatric septic hips treated with irrigation and debridement through either a medial or anterior approach at a single institution over an 18-year period of time. The primary outcome measure was the development of avascular necrosis.

Results: Thirteen of 164 patients (7.9%) developed avascular necrosis. Avascular necrosis was noted in 9 of 101 patients who had anterior approach and 4 of 63 patients who underwent medial approach (p = 0.76). The average age for patients developing avascular necrosis was 10.0 years old versus 6.8 years old in patients who did not develop avascular necrosis (p = 0.01). The average follow-up was 3.3 years in patients with avascular necrosis versus 1.5 years for patients who did not develop avascular necrosis (p = 0.01).

Conclusion: Medial approach to the pediatric septic hip does not increase the rate of avascular necrosis compared to the anterior approach.

Level of evidence: Retrospective comparison study, Level III.

目的:儿童和青少年髋关节化脓性关节炎是一种常见病,需要及时诊断和干预。由于担心损伤股骨内侧环状动脉导致血管性坏死,手术冲洗和清创通常通过前路进行。虽然有多项研究调查了前方和内侧入路减少髋关节发育性脱位的后遗症,但没有一项研究比较了这两种入路对小儿化脓性髋关节的治疗效果。我们假设,在比较小儿败血症髋关节的内侧和前方入路时,血管性坏死的发生率不会有明显差异:方法: 我们对一家医疗机构 18 年来采用内侧或前方入路进行冲洗和清创治疗的小儿化脓性髋关节进行了回顾性研究。主要结果指标为是否发生血管性坏死:164例患者中有13例(7.9%)发生了血管性坏死。101名采用前路手术的患者中有9名出现了血管坏死,63名采用内路手术的患者中有4名出现了血管坏死(P = 0.76)。发生血管坏死的患者平均年龄为 10.0 岁,而未发生血管坏死的患者平均年龄为 6.8 岁(P = 0.01)。发生血管性坏死的患者平均随访3.3年,而未发生血管性坏死的患者平均随访1.5年(P = 0.01):结论:与前入路相比,小儿化脓性髋关节内侧入路不会增加血管性坏死的发生率:证据级别:回顾性对比研究,III级。
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引用次数: 0
Virtual reality use in pediatric patients for orthopedic clinical procedures: A randomized prospective trial of efficacy. 虚拟现实技术在儿童患者骨科临床手术中的应用:随机前瞻性疗效试验。
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-05-26 eCollection Date: 2024-08-01 DOI: 10.1177/18632521241254707
Bhumit Desai, Nicholas Newcomb, Brielle Plost, Sean Waldron, Korak Sarkar, Lawrence Haber

Background: Distraction therapy use such as virtual reality is novel in the pediatric orthopedic field. In this study, we use subjective and objective metrics to evaluate virtual reality efficacy to reduce anxiety and pain in a pediatric orthopedic cohort.

Methods: A prospective randomized controlled trial included patients between age 5 and 17 years, presenting to a tertiary care pediatric orthopedic clinic. Parallel groups underwent orthopedic procedures in clinic, utilizing immersive and interactive virtual reality distraction therapies versus standard of care. Procedures included cast application, cast removal, bone pin removal, and fracture reduction. All preprocedure parameters were similar between the groups. Primary outcome was the difference between maximum procedural heart rate and baseline. Secondary outcomes included Wong Baker FACES Rating Scale (Wong & Baker, 1988, Oklahoma, USA) for pain and Visual Analog Scale scores for anxiety.

Results: Ninety-five patients (66 M, 29 F) underwent 59 cast removals, 26 cast applications, 7 percutaneous pin removals, and 3 fracture reductions. Average patient age in the virtual reality and control cohorts was 10.1 (5-17) and 10.6 (5-17), respectively. Average change in maximum heart rate in the virtual reality and control groups was 10.6 ± 10.1 versus 18.4 ± 11.0 (p = 0.00048). The virtual reality group demonstrated trends toward lower perceived anxiety (1.7 ± 2.8 versus 2.9 ± 3.6, p = 0.0666) when compared to controls.

Conclusions: This level 1 study is the first to utilize objective biometric measurements to evaluate use of interactive virtual reality during multiple types of pediatric orthopedic procedures in the clinical setting. The findings suggest that an interactive and immersive virtual reality experience can be effective in reducing pain and anxiety.

Level of evidence: Level 1, Randomized Controlled Trial.

背景:使用虚拟现实技术等分散注意力疗法在儿科骨科领域尚属首次。在这项研究中,我们使用主观和客观指标来评估虚拟现实技术对减轻儿科骨科患者焦虑和疼痛的疗效:方法:一项前瞻性随机对照试验纳入了在一家三级医院儿科骨科诊所就诊的 5 至 17 岁患者。两组患者分别在诊所接受骨科手术,采用沉浸式互动虚拟现实分散注意力疗法和标准护理疗法。手术过程包括打石膏、拆石膏、取骨针和骨折复位。各组的所有术前参数均相似。主要结果是最大手术心率与基线之间的差异。次要结果包括针对疼痛的 Wong Baker FACES 评分量表(Wong & Baker,1988 年,美国俄克拉荷马州)和针对焦虑的视觉模拟量表评分:95 名患者(66 名男性,29 名女性)接受了 59 例石膏拆除术、26 例石膏应用术、7 例经皮针拆除术和 3 例骨折复位术。虚拟现实组和对照组患者的平均年龄分别为 10.1 岁(5-17 岁)和 10.6 岁(5-17 岁)。虚拟现实组和对照组最大心率的平均变化分别为 10.6 ± 10.1 和 18.4 ± 11.0(P = 0.00048)。与对照组相比,虚拟现实组的焦虑感呈下降趋势(1.7 ± 2.8 对 2.9 ± 3.6,p = 0.0666):这项 1 级研究首次在临床环境中利用客观生物测量来评估在多种类型的儿科矫形手术中使用交互式虚拟现实技术的情况。研究结果表明,交互式和沉浸式虚拟现实体验可以有效减轻疼痛和焦虑:1级,随机对照试验。
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引用次数: 0
Single procedure tibialis anterior tendon shortening in combination with Achilles tendon lengthening in unilateral cerebral palsy improves swing phase dorsiflexion in gait. 单侧脑瘫患者的胫骨前肌腱缩短术与跟腱延长术联合使用可改善步态摆动阶段的外展。
IF 1.3 4区 医学 Q3 ORTHOPEDICS Pub Date : 2024-04-29 eCollection Date: 2024-08-01 DOI: 10.1177/18632521241244624
Michèle Widmer, Monica Staganello, Morgan Sangeux, Marco Odorizzi, Reinald Brunner, Elke Viehweger

Purpose: Tibialis anterior tendon shortening combined with tendon Achilles lengthening showed satisfactory short- and long-term outcomes for pes equinus treatment. This retrospective study aimed to evaluate the effectiveness of a single tibialis anterior tendon shortening-tendon Achilles lengthening procedure for treating pes equinus, in a homogeneous unilateral cerebral palsy patient group.

Methods: Gait analysis was conducted on 22 unilateral cerebral palsy patients (mean age at surgery = 13.3 years, standard deviation = 3 years) before and within 2.5 years (standard deviation = 0.61 years) after the tibialis anterior tendon shortening-tendon Achilles lengthening procedure. Primary outcome measures included foot drop occurrence in swing, foot dorsiflexion and the first ankle rocker presence compared to healthy reference data. Movement analysis profile and gait profile score were also calculated for the entire gait cycle. The clinical exam and the A2 peak ankle power were analyzed. Statistical analysis used the paired Wilcoxon's sign rank test (p < 0.05).

Results: Post-operatively, significant improvements were observed in ankle dorsiflexion during swing (p = 0.0006) and reduced foot drop in swing (p = 0.0107). The occurrence of a first ankle rocker did not significantly change (p = 0.1489). Significant improvements in gait profile score and movement analysis profile for all joints and planes indicate overall gait quality improvement. The foot progression changed significantly (p = 0.0285), with a greater external orientation. Nineteen out of 22 patients were able to quit wearing their ankle foot orthoses.

Conclusion: Tibialis anterior tendon shortening and tendon Achilles lengthening combination yielded positive outcomes, showing increased foot dorsiflexion, first ankle rocker presence, and overall improved gait quality. These findings support the effectiveness of this surgical approach for treating pes equinus in children with unilateral spastic cerebral palsy.

目的:胫骨前肌腱缩短术联合跟腱延长术治疗马蹄内翻足的短期和长期疗效令人满意。这项回顾性研究旨在评估胫骨前肌腱缩短-肌腱跟腱延长术治疗马蹄内翻足的疗效:对 22 名单侧脑瘫患者(手术时平均年龄为 13.3 岁,标准差为 3 岁)进行了步态分析,包括胫骨前肌腱缩短-跟腱延长术前和术后 2.5 年内(标准差为 0.61 年)。主要结果指标包括与健康参考数据相比的摆动中的足下垂发生率、足外翻率和第一踝摇摆率。此外,还计算了整个步态周期的运动分析轮廓和步态轮廓得分。对临床检查和 A2 峰值踝关节力量进行了分析。统计分析采用配对 Wilcoxon 符号秩检验(P 结果:术后观察发现,摆动时的踝关节外展(p = 0.0006)和摆动时的足下垂(p = 0.0107)均有明显改善。第一次踝关节摇摆的发生率没有明显变化(p = 0.1489)。所有关节和平面的步态剖面得分和运动分析剖面均有明显改善,这表明步态质量总体上有所提高。足部前移发生了明显变化(p = 0.0285),外侧方向更大。22名患者中有19名能够放弃佩戴踝足矫形器:结论:胫骨前肌腱缩短术和跟腱延长术的联合应用产生了积极的效果,足背屈增加,第一踝摇摆出现,步态质量总体改善。这些研究结果表明,这种手术方法对治疗单侧痉挛性脑瘫患儿的 "马蹄内翻足 "非常有效。
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引用次数: 0
Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip? Nusinersen疗法改变了1型脊髓性肌萎缩症的自然病程:脊柱和髋关节怎么办?
IF 1.4 4区 医学 Q2 Medicine Pub Date : 2024-03-08 eCollection Date: 2024-06-01 DOI: 10.1177/18632521241235028
Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez

Purpose: Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.

Methods: In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.

Results: Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (r = 0.539, p = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (r = 0.361) or the time of first nusinersen dose (r = 0.39) was not significant (p = 0.076 and p = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.

Conclusion: Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.

目的:1 型脊髓性肌萎缩症的自然病程极具破坏性,在不行动的患者中,病程严重者会出现脊柱侧弯和髋关节脱位。美国食品和药物管理局批准的脊髓性肌肉萎缩症治疗药物 Nusinersen 可延长患者的生存期并增强运动功能。然而,它对脊柱和髋关节畸形的影响仍不清楚:在一项回顾性研究中,纳入了29名出生于2017年至2021年间、经基因检测确认、接受过鞘内努西那生治疗并已在国家电子健康数据库注册的1型脊髓性肌萎缩症患者。研究人员收集了患者的人口统计学资料、首次使用努西能森剂量时的年龄、总用药量以及费城儿童神经肌肉疾病婴儿测试评分。放射学评估包括肋骨畸形、脊柱侧弯、骨盆倾斜和髋关节脱位:平均年龄为(3.7±1.1)岁(2-6岁),鞘内注射奴西那生的平均次数为(8.9±2.9)次(4-19次)。费城儿童神经肌肉疾病婴儿测试评分与奴西奈森用药次数之间存在明显相关性(r = 0.539,p = 0.05)。费城儿童神经肌肉疾病婴儿测试评分与患者年龄(r = 0.361)或首次服用奴西那生的时间(r = 0.39)之间的相关性不显著(分别为 p = 0.076 和 p = 0.054)。虽然93.1%的患者有脊柱侧弯,69%的患者有骨盆倾斜,60.7%的患者有髋关节半脱位,但这些情况与患者年龄、纽西奈森总用药量、首次用药年龄或费城儿童神经肌肉疾病婴儿测试评分均无显著关联:结论:疾病修饰疗法可显著改善1型脊髓性肌萎缩症患者的总体存活率和运动功能。然而,在大多数病例中,进行性脊柱畸形和髋关节脱位仍然是需要解决的重要问题。
{"title":"Nusinersen therapy changed the natural course of spinal muscular atrophy type 1: What about spine and hip?","authors":"Niyazi Erdem Yasar, Guzelali Ozdemir, Elif Uzun Ata, Mustafa Okan Ayvali, Naim Ata, Mahir Ulgu, Ebru Dumlupınar, Suayip Birinci, Izzet Bingol, Senol Bekmez","doi":"10.1177/18632521241235028","DOIUrl":"10.1177/18632521241235028","url":null,"abstract":"<p><strong>Purpose: </strong>Spinal muscular atrophy type 1 has a devastating natural course and presents a severe course marked by scoliosis and hip subluxation in nonambulatory patients. Nusinersen, Food and Drug Administration-approved spinal muscular atrophy therapy, extends survival and enhances motor function. However, its influence on spinal and hip deformities remains unclear.</p><p><strong>Methods: </strong>In a retrospective study, 29 spinal muscular atrophy type 1 patients born between 2017 and 2021, confirmed by genetic testing, treated with intrathecal nusinersen, and had registered to the national electronic health database were included. Demographics, age at the first nusinersen dose, total administrations, and Children's of Philadelphia Infant Test of Neuromuscular Disorders scores were collected. Radiological assessments included parasol rib deformity, scoliosis, pelvic obliquity, and hip subluxation.</p><p><strong>Results: </strong>Mean age was 3.7 ± 1.1 (range, 2-6), and average number of intrathecal nusinersen administration was 8.9 ± 2.9 (range, 4-19). There was a significant correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and the number of nusinersen administration (<i>r</i> = 0.539, <i>p</i> = 0.05). The correlation between Children's of Philadelphia Infant Test of Neuromuscular Disorders score and patient age (<i>r</i> = 0.361) or the time of first nusinersen dose (<i>r</i> = 0.39) was not significant (<i>p</i> = 0.076 and <i>p</i> = 0.054, respectively). While 93.1% had scoliosis, 69% had pelvic obliquity, and 60.7% had hip subluxation, these conditions showed no significant association with patient age, total nusinersen administrations, age at the first dose, or Children's of Philadelphia Infant Test of Neuromuscular Disorders scores.</p><p><strong>Conclusion: </strong>Disease-modifying therapy provides significant improvements in overall survival and motor function in spinal muscular atrophy type 1. However, progressive spine deformity and hip subluxation still remain significant problems in the majority of cases which would potentially need to be addressed.</p>","PeriodicalId":56060,"journal":{"name":"Journal of Childrens Orthopaedics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11144372/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141238723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acknowledgement to Reviewers 2023. 感谢审稿人2023。
IF 1.4 4区 医学 Q2 Medicine Pub Date : 2023-12-01 DOI: 10.1177/18632521231219615
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引用次数: 0
Clinical examination and imaging resources in children and adolescent back pain. 儿童和青少年腰痛的临床检查和影像学资源。
IF 1.4 4区 医学 Q2 Medicine Pub Date : 2023-11-29 eCollection Date: 2023-12-01 DOI: 10.1177/18632521231215860
Ana León-Domínguez, Rocío Cansino-Román, Jose M Martínez-Salas, David M Farrington

Back pain is a relatively common complaint in children and adolescents. The pediatric patient presenting with back pain can often be challenging, and there are many well-known organic diagnoses that should not be missed. In younger children, an organic cause of back pain can often be found. However, back pain in older children and adolescents is often "non-specific." The differential diagnosis of back pain in children includes neoplasms, developmental, and inflammatory conditions. Basic steps should include an in-depth anamnesis, a systematic physical examination, and standard spine radiographs (anteroposterior and lateral). Nevertheless, advanced diagnostic imaging and laboratory studies should be included when indicated to avoid missing or delaying a serious diagnosis. If other types of imaging tests are necessary (magnetic resonance imaging, computed tomography, bone scan, or single photon emission computed tomography), they should be guided by diagnostic suspicion.

背部疼痛是儿童和青少年中比较常见的主诉。小儿患者的背部疼痛往往是具有挑战性的,有许多众所周知的有机诊断不应该错过。在年幼的儿童中,经常可以发现背部疼痛的器质性原因。然而,年龄较大的儿童和青少年的背痛通常是“非特异性的”。儿童背痛的鉴别诊断包括肿瘤、发育和炎症。基本步骤应包括深入的记忆、系统的体格检查和标准的脊柱x线片(前后位和侧位)。然而,先进的诊断成像和实验室研究应包括当指,以避免遗漏或延误严重的诊断。如果需要其他类型的影像学检查(磁共振成像、计算机断层扫描、骨扫描或单光子发射计算机断层扫描),则应以诊断怀疑为指导。
{"title":"Clinical examination and imaging resources in children and adolescent back pain.","authors":"Ana León-Domínguez, Rocío Cansino-Román, Jose M Martínez-Salas, David M Farrington","doi":"10.1177/18632521231215860","DOIUrl":"10.1177/18632521231215860","url":null,"abstract":"<p><p>Back pain is a relatively common complaint in children and adolescents. The pediatric patient presenting with back pain can often be challenging, and there are many well-known organic diagnoses that should not be missed. In younger children, an organic cause of back pain can often be found. However, back pain in older children and adolescents is often \"non-specific.\" The differential diagnosis of back pain in children includes neoplasms, developmental, and inflammatory conditions. Basic steps should include an in-depth anamnesis, a systematic physical examination, and standard spine radiographs (anteroposterior and lateral). Nevertheless, advanced diagnostic imaging and laboratory studies should be included when indicated to avoid missing or delaying a serious diagnosis. If other types of imaging tests are necessary (magnetic resonance imaging, computed tomography, bone scan, or single photon emission computed tomography), they should be guided by diagnostic suspicion.</p>","PeriodicalId":56060,"journal":{"name":"Journal of Childrens Orthopaedics","volume":null,"pages":null},"PeriodicalIF":1.4,"publicationDate":"2023-11-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10693837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138483568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
Journal of Childrens Orthopaedics
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