Surgical management of patients with comorbid long-term myasthenia gravis (MG) is particularly challenging and MG thus represents an independent risk factor for perioperative complications. However, few studies have reported on the perioperative assessment, prevention measures, and risks in MG patients undergoing major surgery, especially for anterior cervical spine surgery. We herein report the rare case of a 62-year-old man with a 20-year history of MG, who was admitted to our hospital with diagnosis of degenerative cervical spondylosis. He safely underwent anterior cervical corpectomy of C4, discectomy of C5-6, and fusion of C3-6. Intraoperative motor evoked potential was recorded to detect significant improvement after decompression. However, the patient suffered from progressive dysphagia, bucking, and hyperpyrexia 20 days after the initial operation. Imaging revealed titanium cage sliding and graft dislodgement. Secondary surgery was performed for posterior internal fixation from C2-7 and anterior revision from C3-6 after Halo-Vest traction, antibiotic treatment, and immunoglobulin therapy. He underwent a series of postoperative treatments, including cervicothoracolumbosacral orthosis, atomization inhalation, chest physiotherapy, antibiotics, and nutritional support. His condition improved markedly and he had no recurrence of symptoms during the 6-month follow-up. It is the rare reported case of anterior cervical spinal surgery in a patient with MG. This rare case indicates a relative contraindication to anterior-only approaches especially with multiple levels for MG patients with cervical spondylosis. Posterior approach, intraoperative monitoring, osteoporosis, postoperative strong brace protection, and supportive management should be considered for patients who were on large doses of steroids for long duration of time, given the lack of sufficient bone mineral density.

Background Skeletal deformity is characterized by an abnormal anatomical structure of bone and cartilage. In our previous studies, we have found that a substantial proportion of patients with skeletal deformity could be explained by monogenic disorders. More recently, complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal deformities and may complicate the diagnostic odyssey of patients. In this study, we report the molecular and phenotypic characteristics of patients with dual molecular diagnosis and variable skeletal deformities. Results From 1108 patients who underwent exome sequencing, we identified eight probands with dual molecular diagnosis and variable skeletal deformities. All eight patients had dual diagnosis consisting of two autosomal dominant diseases. A total of 16 variants in 12 genes were identified, 5 of which were of de novo origin. Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I ( COL1A1 , MIM:166200), Neurofibromatosis, Type I ( NF1 , MIM:162200) and Marfan Syndrome ( FBN1 , MIM:154700). Conclusions This study demonstrated the complicated skeletal phenotypes associated with dual molecular diagnosis. Exome sequencing represents a powerful tool to detect such complex conditions.

肌少症是一种与衰老相关的疾病,表现为机体肌肉含量减少,肌肉力量减弱和/或活动能力下降,在老年人群中发病率相对较高,影响日常生活质量,同时增加多系统疾病的发生风险.肌少症可造成椎旁肌肉含量的减少及力量减弱,是退行性脊柱疾病发生和发展的危险因素;同时,肌少症被认为可以影响脊柱手术患者的预后,增加院内并发症、术后住院时间及护理成本.本文对肌少症的发病机制、诊断方法及标准,以及治疗方法等多方面进行总结,并着重探讨其在脊柱疾病及脊柱手术中的作用及影响.

青少年特发性脊柱侧凸 ( adolescent idiopathic scoliosis,AIS ) 是一种青少年中最为常见的脊柱三维畸形,其整体发病率约为 1.5％～3.0％,是一种包括冠状面侧凸、矢状面失平衡和在横轴位上椎体旋转在内的复杂脊柱三维畸形 [1-3].AIS 常发生于青春发育期前后,其发病及进展与基因变异、细胞及机体代谢、相关蛋白表达及脊柱生物力学特性等因素密切相关,其病因学至今尚未被完全阐明 [4-5].目前,关于 AIS 病因及发病机制的研究逐步开展,从最初的动物实验到人体组织学研究,从检测激素水平、骨量测定到近年来开展的基因连锁分析和关联分析,已经取得了一定的研究成果,但截至目前,针对 AIS 发病机制的研究结果与结论并不一致,故仍难以完全合理地解释 AIS 的病因及发病机制 [4-5].因此,进一步深入探索 AIS 的病因学及发病机制具有极为重要的意义.

先天性巨指/趾畸形是一种罕见的由于个体发育过程中PIK3CA、AKT1等基因的体细胞嵌合突变导致的先天性疾病,表现为单一或多肢体手指/足趾的过度增大,通常需要1次甚至多次手术治疗,给患者和家庭带来极大的经济和心理负担.该病的临床表现复杂多样,而某些疾病可同样出现类似的肢体过度生长,给临床医师的准确识别及治疗带来挑战.本文就本病的分类、发病机制、临床表现、鉴别诊断及治疗方法进行综述.

先天性颈椎融合畸形,即Klipple-Feil综合征(Klipple-Feil syndrome,KFS),是一种以颈椎融合为特征的先天性疾病.临床上主要表现为短颈、低后发际线与颈部活动受限三联征,并且常合并有骨关节系统、神经系统、泌尿生殖系统、心血管系统畸形等异常表现.KFS的病因学是近年来国内外学者研究的热点,已从胚胎学、遗传学、基因组学等层面进行了深入研究,但迄今为止KFS的病因学及发病机制尚不明确,仍无法用单一理论解释所有患者的发病机制.进一步明确KFS的病因学及致病机制,将为该病的早期筛查、精确诊断及合理治疗提供一定的理论依据.

背景:类风湿关节炎(RA)晚期常累及前足小关节,造成前足畸形.目前关于手术治疗RA前足畸形的中长期随访研究较少.目的:评估手术治疗RA前足畸形的中长期疗效.方法:回顾性分析2010年11月至2019年7月诊断为RA前足畸形并行手术治疗的15例患者(22足)的临床资料,其中男3例,女12例,平均年龄(60±12)岁.记录术前及术后即刻的外翻角(HVA)、第1～2跖骨间角(IMA),术前、术后3个月、术后6个月、术后1年及末次随访的美国足踝外科协会(AOFAS)评分,以及术后并发症.结果:15例患者获得2～11年随访,平均(5.6±2.8)年;术前及术后即刻HVA分别为49°±15°、17°±5°,IMA分别为17°±5°、10°±2°,术后较术前均有显著改善(P<0.05).AOFAS评分:术前、术后3个月、术后6个月、术后1年、末次随访分别为(28±25)分、(91±8)分、(92±9)分、(91±12)分、(82±15)分,术后各随访时间点较术前均显著升高(P<0.05),末次随访较术后3个月、6个月、1年有所下降(P<0.05),术后3个月、6个月、1年之间无显著差异(P>0.05).结论:手术治疗RA前足畸形的中长期临床效果确切.手术不能抑制RA的进展,远期存在畸形复发风险,需加强随访.

Objective: This study aimed to design a weighted co-expression network and a breast cancer (BC) prognosis evaluation system using a specific whole-genome expression profile combined with epithelial-mesenchymal transition (EMT)-related genes; thus, providing the basis and reference for assessing the prognosis risk of spreading of metastatic breast cancer (MBC) to the bone. Methods: Four gene expression datasets of a large number of samples from GEO were downloaded and combined with the dbEMT database to screen out EMT differentially expressed genes (DEGs). Using the GSE20685 dataset as a training set, we designed a weighted co-expression network for EMT DEGs, and the hub genes most relevant to metastasis were selected. We chose eight hub genes to build prognostic assessment models to estimate the 3-, 5-, and 10-year survival rates. We evaluated the models’ independent predictive abilities using univariable and multivariable Cox regression analyses. Two GEO datasets related to bone metastases from BC were downloaded and used to perform differential genetic analysis. We used CIBERSORT to distinguish 22 immune cell types based on tumor transcripts. Results: Differential expression analysis showed a total of 304 DEGs, which were mainly related to proteoglycans in cancer, and the PI3K/Akt and the TGF-β signaling pathways, as well as mesenchyme development, focal adhesion, and cytokine binding functionally. The 50 hub genes were selected, and a survival-related linear risk assessment model consisting of eight genes (FERMT2, ITGA5, ITGB1, MCAM, CEMIP, HGF, TGFBR1, F2RL2) was constructed. The survival rate of patients in the high-risk group (HRG) was substantially lower than that of the low-risk group (LRG), and the 3-, 5-, and 10-year AUCs were 0.68, 0.687, and 0.672, respectively. In addition, we explored the DEGs of BC bone metastasis, and BMP2, BMPR2, and GREM1 were differentially expressed in both data sets. In GSE20685, memory B cells, resting memory T cell CD4 cells, T regulatory cells (Tregs), γδ T cells, monocytes, M0 macrophages, M2 macrophages, resting dendritic cells (DCs), resting mast cells, and neutrophils exhibited substantially different distribution between HRG and LRG. In GSE45255, there was a considerable difference in abundance of activated NK cells, monocytes, M0 macrophages, M2 macrophages, resting DCs, and neutrophils in HRG and LRG. Conclusions: Based on the weighted co-expression network for breast-cancer-metastasis-related DEGs, we screened hub genes to explore a prognostic model and the immune infiltration patterns of MBC. The results of this study provided a factual basis to bioinformatically explore the molecular mechanisms of the spread of MBC to the bone and the possibility of predicting the survival of patients.

Objective Metastatic spinal differentiated thyroid carcinoma (MSDTC) is relatively rare in the clinic and often overlooked. The objective of the current study is to analyze the clinical characteristics and prognosis of patients with MSDTC who underwent surgical treatment to determine the prognostic factors that affect survival. Methods This study retrospectively analyzed the clinical data and postoperative follow-up results of MSDTC patients who underwent spinal surgery at the Orthopedic Department of Peking Union Medical College Hospital from January 2010 to January 2020. Clinical data and survival time were analyzed by Kaplan–Meier analysis. Results Eleven patients were included, and the average age was 58.3 years (range 37‒74). The average time from the initial surgery to the discovery of spinal metastasis was 42.9 months (range 0‒132), and the average follow-up time was 21.8 months (range 3‒80). Progression was identified in seven patients, and 10 patients (90.9%) died during the follow-up period. Kaplan–Meier analysis showed that extraosseous visceral metastasis (p=0.012), revised Tokuhashi score (p=0.035), Tomita score (p=0.038), and surgical method (p=0.028) were associated with overall survival (OS). In addition, skeletal visceral metastasis (p=0.017), revised Tokuhashi score (p=0.028), Tomita score (p=0.038), and surgical method (p=0.049) were associated with progression-free survival (PFS). Conclusion Surgical treatment is an effective method for treating MSDTC and leads to pain relief, restored function and increased spinal stability. Based on our single-center experience, extraosseous visceral metastasis, revised Tokuhashi score, Tomita score, and surgical methods may be potential prognostic factors for OS whilst visceral metastasis, revised Tokuhashi score, Tomita score, and surgical methods may be potential prognostic factors for PFS.

系统性红斑狼疮(systemic lupus erythematosus,SLE)合并双侧髌韧带自发断裂临床上极其罕见,国际上报道50例左右[1].对于此类少见病,临床上容易误诊,错过最佳手术时机,膝关节功能恢复不理想[2].本文报道1例因长期服用激素并发双侧髌韧带自发断裂的SLE患者的诊治情况. 1临床资料 患者,女,32岁,因“双膝多次轻微外伤后疼痛、肿胀伴活动受限3月”入院.患者3个月前因上车时自感右膝疼痛后跪地,VAS评分6分,伴轻微度跛行,未重视、未诊治.2个月前下楼梯时自感双膝酸痛后跪地,VAS评分9分,伴肿胀、活动受限,不能行走,否认皮肤破损,否认意识丧失,就诊于当地医院,行膝关节MRI,考虑“双膝髌韧带松弛”,予护膝保守治疗.后患者再次感双膝酸痛伴站立不稳,无法行走(2019-03-02),左膝重,伴皮肤淤青.患者8年前于外院诊断为SLE,口服泼尼松60 mg,每日1次;规律减量至35 mg,每日1次.6年前逐渐开始出现全身关节游走性疼痛,活动后疼痛可缓解,3年前无明显诱因出现全身红色皮疹,压之褪色,部分触之有硬结,伴瘙痒.1年前于当地医院复诊,泼尼松调整为甲泼尼龙(16 mg,每日1次),目前已减量至8 mg,每日1次.

BACKGROUND:This study intends to discuss the clinical features, therapeutic strategies, and patients' prognostic features and to share our expertise in handling this entity. Current research is one of Asia's extensive MSCCA clinical studies until now.METHODS:Four MSCCA patients who were operated in our hospital's bone tumor center from January 2010 to January 2020 were chosen. Our team reviewed a retrospective study of the medical history and records of surgery, imaging data, and pathology reports (both primary and metastatic spinal tumors) of all MSCCA patients. We applied two surgical therapies in this study, including open surgery and percutaneous vertebroplasty. A predetermined analysis of patients' original clinical data was performed, and regular followup was performed after the operation.RESULTS:Of the four patients, one was male and three were female. The age ranged from 60 to 70 years. The time duration between the diagnosis of cholangiocarcinoma (CCA) and the diagnosis of spinal metastases ranged from 0 to 11 months. Spinal metastatic disease was mainly located in the thoracic spine (n=4; 100%), followed by the cervical spine (n=1; 25.0%). Postoperatively, in the four patients, the symptoms improved and the VAS score was decreased. During the follow-up visit, the progression of the local spinal tumors at the site of primary spinal surgery was detected in three patients (75.0%). Three patients died from the disease during the follow-up period, and one patient is still alive. The time ranged from 6 to 13 months for spinal surgery to the patient's death.CONCLUSIONS:Taken together, the prognosis of patients with MSCCA is poor. Surgical treatment can dramatically improve patients' quality of life and helps to extend a patient's survival. In terms of surgical treatment, appropriate surgical treatment should be selected according to the general condition of the patient and the relevant characteristics of spinal metastases.

With the advantages of less operative injury and quicker postoperative recovery time, percutaneous endoscopic spine surgery system is currently one of the most widely used minimal invasive spine surgery techniques in China. However, this technique usually requires surgeon to operate in a single cannula, which brings much inconvenience such as limited vision, small range of motion and low efficiency. Meanwhile, the increasingly popular technique of unilateral biportal endoscopic (UBE) surgery possesses the advantages of better operation visual field, more flexible in operation, shorter learning curve period, handier surgical instruments for spine surgeon, and minimize radiation dosage caused by intraoperative fluoroscopy when comparing with single cannula endoscopic technique, since UBE requires an additional portal for surgical instruments while the anther portal is placed for arthroscope and pressure pump irrigation system. This technique has been applied to the treatment of degenerative diseases of cervical and lumbar spine, facet cyst, spinal epidural lipomatosis and abscess, and has achieved satisfactory clinical results.

背景:良好的围手术期镇痛是加速康复外科(ERAS)理念的重要组成部分.前足截骨矫形手术是足踝外科常见手术,尚无针对此类手术的规范化围手术期镇痛方案.目的:比较喉罩全麻结合踝周神经阻滞与喉罩全麻结合术后患者自控镇痛(PCA)两种方法在前足截骨矫形术后镇痛方面的疗效.方法:本研究纳入2015年1月至2019年6月间收治的中重度外翻并接受单足前足截骨矫形患者86例,其中男8例,女78例,年龄53～83岁,平均(68.1±8.4)岁.术式采用收肌腱及外侧关节囊松解+改良Chevron截骨±Weil截骨±Akin截骨.患者随机分为两组,PCA组:采用喉罩全麻+术后PCA;踝周阻滞组:采用喉罩麻醉后、切开手术前行踝周神经阻滞.收集两组手术时间,术前及术后即刻、6 h、12 h、24 h、48 h及3 d、7 d时切口疼痛VAS评分等指标.结果:两组患者年龄、性别无统计学差异(P>0.05).PCA组的平均手术时间为(56±6)min,踝周阻滞组为(58±7)min,组间比较无统计学差异(P>0.05).PCA组术后即刻、6 h、12 h、24 h的VAS评分分别为(4.5±1.0)分、(5.1±1.5)分、(4.8±1.7)分、(4.0±1.4)分,踝周阻滞组分别为0分、(1.0±0.9)分、(3.5±1.1)分、(3.0±1.8)分,踝周阻滞组显著低于PCA组(P<0.05).术后48 h、3 d及7 d的VAS评分,两组比较无统计学差异(P>0.05).术后注射阿片类镇痛药物者,PCA组(10例,23.3％)明显多于踝周阻滞组(2例,4.7％).结论:踝周神经阻滞可有效控制前足截骨矫形术后疼痛,减少非PCA途径阿片类镇痛药物使用,提高患者手术体验,值得临床应用.

脊柱骨折"集簇现象"即8个月内出现5个节段,以上的自发性胸椎和(或)腰椎骨折,是一种罕见的与骨质疏松相关的多发椎体骨折现象.目前关于上述"集簇现象"的文献报道极少,然而该现象一旦发生后果非常严重,应引起足够的重视.本文回顾性分析1例发生"集簇现象"患者的诊治过程,并对相关文献进行回顾,探讨这一现象发生的可能危险因素以及防治方案,为临床诊疗工作提供借鉴.

成人脊柱侧凸是指骨骼发育成熟的患者伴有 Cobb's角>10° 的脊柱畸形 [1].成人脊柱侧凸是一个广义的概念,包括所有原因引起的脊柱畸形,根据 Aebi 分型 [2],可在病因学角度将成人脊柱侧凸分为 4 型 ( 表 1 ).I 型:成人退行性脊柱侧凸 ( adult degenerative scoliosis,ADS );通常 50 岁以后起病,被认为源于非对称性的椎间盘和关节突退变,进而导致脊柱节段受力失衡,常伴有侧方椎体滑移,伴随出现的椎管狭窄是 I 型侧凸的一个特征,可为中央椎管狭窄、椎间孔狭窄或两者并存 [3-5].II 型:成人特发性脊柱侧凸;是由发生于幼儿或青春期的特发性脊柱侧凸进展而来,成人期由于机械、骨骼变化或脊柱退变等原因出现侧凸进展.成人特发性脊柱侧凸在起病年龄、Cobb's 角大小、代偿胸弯、椎体侧方滑移、脊柱失平衡的发生等方面与 ADS 具有典型差异 [6-7] ( 表 2 ).III 型:继发性成人脊柱侧凸;可分为 2 个亚型.IIIa 型主要为脊柱相关疾病造成,例如双下肢不等长所致的骨盆倾斜等.IIIb型由于骨代谢异常 ( 主要为骨质疏松症 ) 引起骨骼改变,进而发生脊柱畸形,通常伴有脊柱后凸 [8].

背景:硬脊膜损伤(dural injury,DI)是腰椎手术的常见并发症,经皮椎间孔镜腰椎间盘切除术(percutaneous transforaminal endoscopic lumbar discectomy,PTELD)并发DI的文献报道很少,对其发生率和原因的分析研究亦很少.目的:分析THESSYS(Thomas Hoogland endoscopic spine system)技术PTELD并发DI的原因和表现,总结其预防和处理方法.方法:回顾性分析2014年3月至2017年6月行THESSYS技术PTELD 257例,其中单纯腰椎间盘切除术226例,合并侧隐窝狭窄同时行侧隐窝减压+椎间盘切除术31例;共8例发生DI,其中L2/3节段2例,L3/4节段1例,L4/5节段4例,L5/S1节段1例.结果:8例发生DI的患者中1例术中未见DI,但术后发生了脑脊液漏(cerebrospinal fluid leakage,CSFL),损伤机制不详;另外7例于术中发现DI,其中5例为神经根外侧DI,1例为硬膜囊腹侧DI,1例为硬膜囊外侧DI并于术中发生马尾神经疝出而转为开放手术.除1例转开放手术外,完成椎间孔镜手术7例,其中4例于术后发现CSFL,引流量为50～200 ml,于术后1～2d拔除伤口引流管、缝合封闭皮肤裂口并采取平卧位休息1 d;另外3例未见明显CSFL,术后引流量＜10 ml,于术后24 h内拔除引流管.2例出现一过性头晕、恶心、呕吐,1例有一过性下肢麻木,1例有一过性下肢放射痛、肌力下降,3天后症状改善;1例转开放手术后出现小腿、足背麻木和踇背伸肌力下降,随访6个月时神经功能得到明显恢复.8例均获得随访,随访时间为12～23个月,平均17.9个月,按照改良MacNab标准对手术疗效进行评估,优4例,良4例,均无切口感染及脑脊液囊肿形成.结论:PTELD并发DI的发生率可能被低估,多数经过拔除引流管、缝合伤口、卧床休息后可获得良好效果,无需特殊处理.如术中发现马尾神经疝出或术后出现难以缓解的疼痛、肌力进行性下降等神经症状者,可能需要转开放手术或再次翻修手术.

晚发型脊柱骨骺发育不良（spondyloepiphyseal dysplasia,SED）系一组同时累及脊柱和长管状骨骨骺的遗传性发育障碍性疾病,临床上有躯干与肢体不成比例的矮小身材特征。晚发型SED发病率低,约为0.1-0.4/10万,是一种较为罕见的骨发育不良疾病[1]。1临床资料患者,女,31岁,因间断性全身多关节疼痛25年、加重5