我国脊髓性肌萎缩症多学科管理和诊治模式

脊髓性肌萎缩症(SMA)主要累及运动神经元导致肌无力及肌萎缩,在疾病不同阶段可出现多系统(骨骼、呼吸、消化等)合并症。随着SMA的疾病修正治疗药物在国内的应用及研究的开展,SMA多学科管理及诊治模式迎来了新的挑战。该文从疾病修正药物治疗、康复管理、骨骼管理、营养管理、呼吸管理等方面进行了介绍。     

青少年特发性脊柱侧凸的病因

青少年特发性脊柱侧凸（adolescent idiopathic scoliosis．AIS）是小儿骨骼肌肉系统中最常见的畸形之一，也是脊柱畸形中最常见的类型。该病在青少年中的发病率约为2％～4％，占整个脊柱侧凸的80％，严重脊柱侧凸以女童多见。AIS的病因学目前存在许多假说，包括遗传、骨骼发育异常、内分泌及代谢系统异常、中枢神经系统异常以及结缔组织异常等。     

早发性脊柱侧凸的手术治疗与并发症研究进展

正早发性脊柱侧凸(early onset scoliosis,EOS)是指发生于10岁以前的脊柱侧凸畸形,包括特发性脊柱侧凸、神经肌源性脊柱侧凸、先天性脊柱侧凸、综合征性脊柱侧凸等。严重的脊柱畸形最终会引起限制性肺疾病及心血管疾病,甚至造成患儿早期死亡~([1-2])。既往诊疗经验中,早期前后路脊柱融合矫形内固定手术曾被认为是该疾病的标准化治疗方案;但随着研究不断深入,人们逐渐认识到,过早行     

青少年伴发脊柱侧凸的Chiari畸形的治疗策略

目的　探讨伴发脊柱侧凸的Chiari畸形的临床评估及对其治疗效果进行初步分析。方法　对 32例伴发脊柱侧凸的Chiari畸形的青少年患儿进行枕大孔扩大减压成形手术治疗 ,同时 12例患儿施行了枕颈融合 ,后期 2 0例患儿未行枕颈融合。本组中 2 2例伴发的脊柱侧凸有矫形手术指征 ,在枕颈部手术后 6个月再行脊柱侧凸矫形术。结果　本组随访 6个月～ 5年 ,患儿的感觉障碍及腹壁浅反射减弱或消失的症状改善不明显 ;6例获得MRI复查患儿中 4例脊髓空洞明显缩小。 2 2例行脊柱侧凸矫形术患儿 ,术后平均Cobb角矫形率为 6 2 % ,终末随访时矫正率丢失 5 % ,10例行脊柱侧凸Milwaukee支具的患儿中有 2例脊柱侧凸有改善。结论　作为脊柱侧凸治疗的准备性手术 ,对Chiari畸形需行枕大孔扩大成形术 ,减少脊柱侧凸矫形时可能出现的神经损害。在脊髓空洞的处理及枕颈部融合上 ,在脊髓空洞与脊髓之比 <5 0 %时 ,不需行空洞引流术。对于患儿 ,如仅行枕大孔扩大减压 ,C1后弓切除 ,可以不行枕颈融合。     

脊髓性肌萎缩症治疗研究进展

脊髓性肌萎缩症(spinal muscular atrophy, SMA)是一种常染色体隐性遗传性神经肌肉病, 主要特征是脊髓前角运动神经元变性导致的四肢近端进行性肌无力和肌萎缩, 可累及呼吸、消化及骨骼等多个系统。未经治疗的严重1型SMA患儿通常在2岁内死亡。近年来, SMA的治疗获得飞速发展, 多种药物已获批上市, 患者有望从中受益。然而, 现有的任何一种治疗药物和方案都不能达到完全治愈的效果, 因此不同治疗策略、不同作用机制药物的联合治疗以及潜在药物的研究开发成为未来SMA治疗的发展方向。该文就SMA的治疗药物及联合治疗最新研究进展进行综述, 为SMA的治疗实践提供参考。     

我国小儿脊柱外科的发展与展望

<正>20世纪70年代以前,我国小儿脊柱手术仅占小儿骨科手术的极小部分,且脊柱手术分别由神经外科医生和部分成人骨科医生完成。绝大多数脊柱脊髓疾病采用保守治疗,如脊柱脊髓创伤,各种脊柱畸形,脊髓栓系综合征等危及儿童健康的常见病、多发病等,均未得到很好的治疗。随着科学技术的交流、引进和创新,一些基础研究、边缘学科的进展,使小儿脊柱外科疾病的诊断、治疗得到较为迅速的发展。以北京儿童医院潘少川教授为代表的小儿骨科专家,引进并率先在北京儿童医院开展了应用哈氏棒矫正小儿脊柱侧凸畸形     

精准医学时代中国脊髓性肌萎缩症诊治发展之路

脊髓性肌萎缩症(SMA)是一种常染色体隐性遗传神经肌肉疾病,因运动神经元存活基因(SMN)1缺失/变异导致SMN蛋白缺乏致病,临床表现为进行性肌萎缩与肌无力,并常伴呼吸、消化、营养、骨骼等多系统器官损害,属严重致死致残性遗传病,2018年被纳入国家《第一批罕见病目录》.近年来随着精准医学的发展,SMA的药物治疗获得前所...     

生长棒技术治疗早发性先天性脊柱侧凸的研究进展

早发性先天性脊柱侧凸的治疗目标是控制脊柱畸形,同时最大限度地促进脊柱和胸廓的生长,促进正常肺发育并维持肺功能.为达到上述目的,一些非融合技术应运而生,其中生长棒技术在早发性先天性脊柱侧凸治疗中被广泛接受和应用,但并发症等手术相关问题亟待解决.现就生长棒技术治疗早发性先天性脊柱侧凸中的焦点问题作一综述,以期为广大脊柱外科...     

前路Halm-Zielke器械治疗脊柱侧凸

目的　应用Halm Zielke双棒系统前路手术矫正脊柱侧凸。方法　 1999年 6月～ 2 0 0 0年 11月应用Halm Zielke系统治疗胸腰段和腰段特发性脊柱侧凸 10例 ,皆为女性 ,年龄 12 .5～ 18.4岁 ,平均 15 .7岁 ,全部病例均获随访。结果　术前侧凸Cobb’s角平均 5 7.1°,术后 14 .2° ,矫正率为75 .1%。旋转畸形 (Nash Moe法 )术前平均 2 .3° ,术后 0 .6° ,平均矫正 1.7°。除 1例轻度泌尿道感染外 ,无脊髓神经等其他并发症。结论　前路Halm Zielke手术矫正脊柱侧凸疗效确切 ,植入物稳定性好 ,并发症少 ,术后无须支架外固定     

先天性脊柱侧凸合并脊髓异常

调查先天性脊柱侧凸患儿脊髓异常的发生并探讨影像学诊断的地位。方法１０７例先天性脊柱侧凸病例中合并脊髓异常者３６中３３．６％。所有病例均摄Ｘ线平片,脊髓造影或ＣＴ脊髓造影２５例,ＭＲＩ检查２７例。     

Pulmonary function and scoliosis in children with spinal muscular atrophy types II and III

Aims:    The objectives were to evaluate the clinical course of spinal muscular atrophy (SMA) types II and III patients necessitating scoliosis surgery at the National University Hospital, Singapore.
Methods:    A retrospective review of SMA types II and III patients, born over a 10-year period between 1983 and 1992, was conducted.
Results:    There were eight patients: four with SMA type II and four with SMA type III. The mean age at scoliosis surgery was 9 years 7 months (range 7 years 6 months−12 years 4 months). The mean preoperative Cobb angle was 65.4° (range 43−90°) and the mean postoperative Cobb angle was 22.6° (range 12−45°), with a mean correction of 64.8% (range 47.7−77.8%). The decline in percentage predicted forced vital capacity (FVC) was 7.7% (95% CI: 12.4% to 3.0%) per year preoperatively and this was reduced to 3.8% (95% CI: 5.8% to 1.9%) per year postoperatively. The mean length of preoperative and postoperative lung function follow-up was 6.3 months (range 0.03−31 months) and 44 months (range 0−110 months), respectively.
Conclusions:    This study suggests that pulmonary function in SMA types II and III continues to decline after scoliosis surgery, though the rate of decline is less marked. Overall, the combined results from this study and all other previously published studies are conflicting in regard to the effect of scoliosis surgery on pulmonary function in SMA types II and IIII, though half of the studies (3 of 6) did demonstrate a continued decline in lung function postoperatively. This decline in pulmonary function despite spinal stabilization is likely secondary to the progressive neuromuscular weakness of the disease.     

儿童脊髓性肌萎缩合并肺部感染36例诊治分析

目的　总结儿童脊髓性肌萎缩合并肺部感染的临床特征,提高临床医生对该病的认识,改善预后。方法　回顾性分析温州医科大学附属第二医院育英儿童医院2008年1月1日至2017年12月31日收治的36例脊髓性肌萎缩症（SMA）合并肺部感染患儿的临床资料。结果　36例中Ⅰ型19例,Ⅱ型9例,Ⅲ型 8例。临床表现和体征以发热、咳嗽、气促或呼吸费力、三凹征、肺部细湿啰音等多见。有11例患儿出现呼吸衰竭,其中Ⅰ型SMA患儿7例（63.6%）,Ⅱ型SMA患儿2例（18.2%）,Ⅲ型SMA患儿2例（18.2%）。5例SMA患儿影像学检查提示脊柱侧弯,3例为Ⅱ型SMA患儿,2例为Ⅲ型患儿。有18例患儿病原学检测阳性,Ⅰ型SMA患儿10例（55.5%）,Ⅱ型SMA患儿4例（22.2%）,Ⅲ型SMA患儿4例（22.2%）,以院内条件致病菌混合感染多见,其中洋葱伯克霍尔德氏菌最常见。3例患儿在院内死亡,22例患儿好转出院,其余11例患儿放弃治疗。住院治疗的次数,重症肺炎、呼吸衰竭的发生率在前、后5年的比较差异均有统计学意义（P＜0.05）。结论　SMA极易并发肺部感染,要警惕条件致病菌感染,对呼吸衰竭者及时使用机械通气。积极有效的呼吸道护理,对减少肺部感染发生,改善SMA患儿的预后有积极的影响。     

Diagnostic d''ataxie de Friedreich : apport des explorations neurophysiologiques

The monitoring of scoliosis treatment can lead to discover its cause. CASE REPORT: A 16-year-old patient was allowed in Center of Functional Rehabilitation for intensive orthopaedic treatment of a severe scoliosis. Electrophysiological explorations carried out within the framework of the monitoring of this treatment detected an axonal neuropathy with sensitive prevalence, whose association with clinical signs made it possible to diagnose Friedreich's disease, then confirmed by molecular biology. CONCLUSION: Electrophysiological examination is useful in a Rehabilitation Center within the framework of the monitoring of the treatment proposed, more especially as it can make it possible to direct a diagnosis.     

Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing.

BACKGROUND: Spinal muscular atrophy (SMA) affects respiratory muscles, which in addition to progressive scoliosis leads to respiratory impairment. Children with developing scoliosis are usually treated with spinal bracing to delay the progress. AIMS: To assess the impact of body position and application of spinal bracing on lung function during tidal breathing in children with SMA. METHODS: Lung function was determined by tidal flow volume loops and passive respiratory mechanics (single breath occlusion technique) in all eight children in southern Norway with SMA type I and II, in both the sitting and supine position. Additional measurements were performed with and without bracing in five children. Muscle strength was assessed by the Brooks scale. RESULTS: Tidal expiratory volume (V(E)) and compliance of the respiratory system (CRS) tended to be higher in the sitting compared to the supine position, but this was not statistically significant. However, applying bracing in the sitting position significantly reduced V(E). The highest values of CRS and V(E) were found in the sitting position without bracing. CONCLUSION: Impairment of tidal respiration must be considered when applying spinal bracing in very young children developing scoliosis with SMA.     

Hardware complications in scoliosis surgery

BACKGROUND: Scoliosis surgery has undergone a dramatic evolution over the past 20 years with the advent of new surgical techniques and sophisticated instrumentation. Surgeons have realized scoliosis is a complex multiplanar deformity that requires thorough knowledge of spinal anatomy and pathophysiology in order to manage patients afflicted by it. Nonoperative modalities such as bracing and casting still play roles in the treatment of scoliosis; however, it is the operative treatment that has revolutionized the treatment of this deformity that affects millions worldwide. As part of the evolution of scoliosis surgery, newer implants have resulted in improved outcomes with respect to deformity correction, reliability of fixation, and paucity of complications. Each technique and implant has its own set of unique complications, and the surgeon must appreciate these when planning surgery. MATERIALS AND METHODS: Various surgical techniques and types of instrumentation typically used in scoliosis surgery are briefly discussed. Though scoliosis surgery is associated with a wide variety of complications, only those that directly involve the hardware are discussed. The current literature is reviewed and several illustrative cases of patients treated for scoliosis at the Connecticut Children's Medical Center and the Newington Children's Hospital in Connecticut are briefly presented. CONCLUSION: Spine surgeons and radiologists should be familiar with the different types of instrumentation in the treatment of scoliosis. Furthermore, they should recognize the clinical and roentgenographic signs of hardware failure as part of prompt and effective treatment of such complications.     

Lung function measurements in young children with spinal muscle atrophy; a cross sectional survey on the effect of position and bracing

BACKGROUND—Spinal muscular atrophy (SMA) affects respiratory muscles, which in addition to progressive scoliosis leads to respiratory impairment. Children with developing scoliosis are usually treated with spinal bracing to delay the progress.AIMS—To assess the impact of body position and application of spinal bracing on lung function during tidal breathing in children with SMA.METHODS—Lung function was determined by tidal flow volume loops and passive respiratory mechanics (single breath occlusion technique) in all eight children in southern Norway with SMA type I and II, in both the sitting and supine position. Additional measurements were performed with and without bracing in five children. Muscle strength was assessed by the Brooks scale.RESULTS—Tidal expiratory volume (V_E) and compliance of the respiratory system (CRS) tended to be higher in the sitting compared to the supine position, but this was not statistically significant. However, applying bracing in the sitting position significantly reduced V_E. The highest values of CRS and V_E were found in the sitting position without bracing.CONCLUSION—Impairment of tidal respiration must be considered when applying spinal bracing in very young children developing scoliosis with SMA.     

Thoracic sequelae after surgical closure of the patent ductus arteriosus in premature infants

Thirty-six children (median chronological age 6 years 1 month) who had undergone surgical closure of a patent ductus arteriosus through a left posterolateral thoracotomy in the neonatal period (median gestational age 32 weeks) were investigated prospectively with respect to anatomical and functional changes of the chest. At follow-up examination, residual or recurrent patent ductus arteriosus was not observed. Three patients had chronic bronchial obstruction. Two patients showed pathological musculoskeletal thoracic sequelae that did not require any treatment at the time of follow-up: persistence of immediate postoperative left phrenic palsy ( n = 1) and thoracic scoliosis ( n = 1). Twenty of the 27 patients in whom chest X-ray was performed had minor radiological skeletal anomalies in the form of rib deformation or fusion related to die thoracotomy, lesions which have a potential to induce thoracic scoliosis. Left shoulder elevation at chest X-ray and isolated left arm dysfunction at clinical examination were not observed. Despite the low incidence of scoliosis and the absence of left arm dysfunction observed at mid-term follow-up in our series, the incidence of minor rib deformations with a potential to induce severe anomalies such as scoliosis should motivate late follow-up examination at adolescence to definitively assess the prevalence of thoracic sequelae after surgical closure of the patent ductus arteriosus in premature infants.     

Pediatric spine imaging post scoliosis surgery

Many orthopedic articles describe advances in surgical techniques and implants used in pediatric scoliosis surgery. However, even though postoperative spine imaging constitutes a large portion of outpatient musculoskeletal pediatric radiology, few, if any, radiology articles discuss this topic. There has been interval advancement over the last decades of the orthopedic procedures used in the treatment of spinal scoliosis in adolescents with idiopathic scoliosis. The goal of treatment in these patients is to stop the progression of the curve by blocking the spinal growth and correcting the deformity as much as possible. To that end, the authors in this paper discuss postoperative imaging findings of Harrington rods, Luque rods, Luque–Galveston implants and segmental spinal fusion systems. Regarding early onset scoliosis, the guiding principles used for adolescent idiopathic scoliosis do not apply to a growing spine because they would impede lung development. As a result, other devices have been developed to correct the curve and to allow spinal growth. These include spine-based growing rods, vertically expandable prosthetic titanium rods (requiring repetitive surgeries) and magnetically controlled growing rods (with a magnetic locking/unlocking system). Other more recent systems are Shilla and thoracoscopic anterior vertebral body tethering, which allow guided growth of the spine without repetitive interventions. In this paper, we review the radiologic appearances of different orthopedic implants and techniques used to treat adolescent idiopathic scoliosis and early onset scoliosis. Moreover, we present the imaging findings of the most frequent postoperative complications.     

脊髓性肌萎缩症治疗研究进展北大核心CSCD

脊髓性肌萎缩症(spinal muscular atrophy,SMA)是一种常染色体隐性遗传的神经肌肉疾病,主要特征为进行性肌无力和肌肉萎缩。该病是导致患儿在婴幼儿期死亡的首要遗传病。SMA治疗的研究领域近年来发展迅速,部分相关治疗药物已经成功获批上市。该文以SMA近年的治疗研究进展作一综述。