支气管肺发育不良小鼠模型的建立

目的建立支气管肺发育不良小鼠模型。方法将30只4日龄雌性昆明小鼠随机分为2组,每组15只,氧气组置于氧箱（FiO20.6）,空气组置于空气中（FiO20.21）,分别于暴露7 d、14 d、21 d时每组随机选取5只,称重后处死,观察肺组织形态学、放射状肺泡计数（radical alveolar counts,RAC）及肺胶原含量变化。结果氧气组各时间点体重较空气组均明显降低（P〈0.001）;实验21 d时氧气组肺组织HE染色下见正常肺泡结构破坏,肺泡隔增厚,肺泡融合;氧气组RAC较空气组显著降低（P〈0.001）;肺胶原天狼猩红特殊染色见Ⅰ型、Ⅲ型胶原增生,较空气组显著增加（P〈0.001）。结论中等浓度氧（FiO20.6）暴露21 d可致小鼠肺发生类似人类支气管肺发育不良改变。     

局灶性皮质发育不良的MRI表现及生活质量水平的评估

目的:探讨局灶性皮质发育不良(FCD)与影像学改变的相关性,并应用日常生活能力量表(ADL)评价FCD患者手术前后的生活质量改善以及癫痫缓解率。方法:回顾性分析60例FCD癫痫患者MRI检查,观察病变部位影像学变化;回顾60例FCD癫痫患者手术前后所填写的生活质量量表,分析患者总体健康水平,总体生命质量,情绪健康,日常精力,认知能力,对药物副作用的担忧,对癫痫发作的担忧,以及社会功能的变化。结果:60例FCD患者有23例(阳性率为38.3%)表现出FCD的病理特征。这23例中表现有四种:灰白质交接模糊,皮层增厚,异常脑沟脑回图案,脑叶萎缩。生活质量量表显示FCD患者(术前)生活质量明显差于正常人群,FCD患者术后的生活质量比术前得到改善。结论:FCD患者的MRI表现呈现多样性,但主要有四种类型。FCD患者术后生活质量得到改善,提示癫痫缓解率提高。     

Insights into the Renal Pathogenesis in Schimke Immuno-Osseous Dysplasia: A Renal Histological Characterization and Expression Analysis

Schimke immuno-osseous dysplasia (SIOD) is a pleiotropic disorder caused by mutations in the SWI/SNF2-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like-1 (SMARCAL1) gene, with multiple clinical features, notably end-stage renal disease. Here we characterize the renal pathology in SIOD patients. Our analysis of SIOD patient renal biopsies demonstrates the tip and collapsing variants of focal segmental glomerulosclerosis (FSGS). Additionally, electron microscopy revealed numerous glomerular abnormalities most notably in the podocyte and Bowman’s capsule. To better understand the role of SMARCAL1 in the pathogenesis of FSGS, we defined SMARCAL1 expression in the developing and mature kidney. In the developing fetal kidney, SMARCAL1 is expressed in the ureteric epithelium, stroma, metanephric mesenchyme, and in all stages of the developing nephron, including the maturing glomerulus. In postnatal kidneys, SMARCAL1 expression is localized to epithelial tubules of the nephron, collecting ducts, and glomerulus (podocytes and endothelial cells). Interestingly, not all cells within the same lineage expressed SMARCAL1. In renal biopsies from SIOD patients, TUNEL analysis detected marked increases in DNA fragmentation. Our results highlight the cells that may contribute to the renal pathogenesis in SIOD. Further, we suggest that disruptions in genomic integrity during fetal kidney development contribute to the pathogenesis of FSGS in SIOD patients.     

成人先天性髋关节发育不良的围手术期护理

成人先天性髋关节发育不良是一种髋臼先天性发育缺陷的疾病,长期发展会形成髋关节半脱位、脱位,最终甚至可能出现股骨头坏死等严重合并症。对于早期患者目前主要采用髋臼旋转截骨手术治疗,而晚期出现股骨头脱位及坏死则只能通过全髋关节置换进行治疗。不论哪种手术方式,围手术期的护理对于患者的健康恢复都有着非常重要的意义。     

成人先天性髋关节发育不良的围手术期护理

成人先天性髋关节发育不良是一种髋臼先天性发育缺陷的疾病,长期发展会形成髋关节半脱位、脱位,最终甚至可能出现股骨头坏死等严重合并症。对于早期患者目前主要采用髋臼旋转截骨手术治疗,而晚期出现股骨头脱位及坏死则只能通过全髋关节置换进行治疗。不论哪种手术方式,围手术期的护理对于患者的健康恢复都有着非常重要的意义。     

人工全髋关节置换治疗成人髋关节发育不良并骨性关节炎的临床分析

目的:探讨人工全髋关节置换治疗成人髋关节发育不良并骨性关节炎的临床疗效。方法:对2009年7月至2012年7月入住我院的60例成人髋关节发育不良并骨性关节炎患者行人工全髋关节置换术治疗。分析治疗优良率、手术前后不同Crowe分型Harris评分、手术前后行走及疼痛情况、手术前后生活质量。结果:1根据Harris评分,本组治疗优良率91.67%(55/60);2术后各Crowe分型患者Harris评分均显著高于术前,差异均具有统计学意义(P<0.05);3本组术前自行行走及辅助行走例数分别为23及37例,术后分别为39例及21例;术前疼痛情况:无、轻、中及重度疼痛例数分别为1例、6例、22例及31例,术后分别为18例、28例、12及2例,手术前后行走情况及疼痛情况差异均具有统计学意义(P<0.05);4根据SF-36生活质量评价标准,术后生活质量评分为(142.16±10.32)分,显著高于术前(115.24±7.34)分,差异具有统计学意义(P<0.05)。结论:人工全髋关节置换治疗成人髋关节发育不良并骨性关节炎的临床疗效显著,术后患者髋关节功能及生活质量明显改善,应在临床上加以推广。     

AV Nodal Reentrant Tachycardia Causing Inappropriate ICD Shocks In A Patient With Arrhythmogenic RV Dysplasia

We report a patient with an implantable cardioverter defibrillator (ICD) for arrhythmogenic right ventricular dysplasia (ARVD) who received inappropriate shocks for atrioventricular node reentry tachycardia (AVRNT). Patient had multiple shocks for tachycardia with EGM characteristics of very short VA interval and CL of 300 msec. An electrophysiologic (EP) study reproducibly induced typical AVNRT with similar features. The slow AV nodal pathway ablation resolved the ICD shocks. Despite increasingly sophisticated discrimination algorithms available in modern ICDs, the ability to differentiate SVT from VT can be challenging. Our patient received inappropriate shocks for AVNRT. When device interrogation alone is not conclusive, an EP study may be necessary to determine the appropriate therapeutic course.     

Combined Surgical Approach to Young Adults with Hip Dysplasia and Concomitant Intra-Articular Pathology Using Intra-Abdominal Monitoring

BackgroundCombined hip arthroscopy and periacetabular osteotomy (PAO) allows for treatment of intra-articular hip pathology with simultaneous correction of acetabular version and femoral head coverage in patients with symptomatic hip dysplasia. Currently, scant data is available to surgeons regarding optimal technique, sequence of repair, perioperative management, and the use of intra-abdominal monitoring in patients undergoing these combined procedures. The purpose of this study is to describe a two-surgeon, muscle-sparing, approach for sequential hip arthroscopy and PAO for the treatment of adults with acetabular dysplasia and concomitant intra-articular hip pathology.MethodsIn this article, we present the indications for combined hip arthroscopy and PAO, in addition to patient set-up and positioning. A detailed discussion of hip arthroscopy and a muscle sparing PAO techniques are then presented, with overview of a novel intra-abdominal pressure monitoring technique and post-operative rehabilitation protocol.ResultsThrough technical refinement and experience, our indications and protocol for the treatment of patients with symptomatic acetabular dysplasia with concomitant intra-articular hip pathology involves a refined and reproducible, two surgeon procedure utilizing hip arthroscopy followed by PAO. The use of intra-abdominal monitoring allows for assessment of intra-peritoneal pressures to monitor for the development of abdominal compartment syndrome secondary to fluid extravasation.ConclusionThe performance of concomitant hip arthroscopy and PAO for concurrent hip dysplasia and intra-articular hip pathology represents an increasingly common approach in hip preservation surgery. The hip arthroscopy and muscle-sparing PAO protocol using intra-abdominal monitoring described here serves to further refine and advance the indications and technical aspects of this challenging procedure.Level of Evidence: V     

转化生长因子5在发育性髋关节发育不良中的作用研究进展

发育性髋关节发育不良(developmental dysplasia of the hip,DDH)是一种主要因髋臼、股骨近端和关节囊等存在结构性畸形而导致的不稳定关节病变,进而发展成为髋关节的脱位。髋关节内软骨发育不良、骨骼及肌腱的异常均可导致髋关节结构的畸形,最终造成DDH。因此,早期预防与诊断是DDH治疗的关键。研究表明,DDH具有遗传基础,其易感基因包括GDF5、HOXD9、COL2AL、PAPPA2等,其中遗传因子转化生长因子5(growth differentiation factor 5,GDF5)对软骨细胞的增殖、分化具有重要作用,是当前研究治疗DDH的热点之一。因而,了解GDF5基因对软骨发育及分化的影响,对于DDH的发病机制和治疗具有重要意义。基于此,综述了国内外近期探讨的GDF5在基因层面上对DDH的影响,以及通过关节内注射重组人GDF5等基于GDF5的DDH治疗方案,以期为DDH的临床治疗提供新的策略。     

Pavlik吊带治疗早期发育性髋关节脱位的研究进展

发育性髋关节脱位(Developmental dysplasia of the hip,DDH)是指一系列髋关节结构异常的疾病,病变严重程度涵盖轻度髋臼发育不良到不可逆的髋关节脱位。DDH的治疗手段进展迅速,但早期闭合复位使用最多的仍是Pavlik吊带。通过超声可监测髋关节复位情况从而评估Pavlik吊带的治疗效果。同时,随着超生髋关节检查技术在我国的推广,使得早期诊断DDH成为可能,这也促进了Pavlik吊带在临床的应用。未来研究的方向在于制定基于询证医学证据的Pavlik吊带使用规范和开发出效果更好、并发症更少的新型支具。     

基于三维CT的模拟手术在大龄DDH患儿外科治疗中的应用研究

目的:通过对大龄发育性髋关节脱位(developmental dysplasia of the hip,DDH)患儿进行术前模拟手术,实现术中精确截骨及旋转角度,从而达到个体化治疗,改善患儿预后的目的。方法:本研究按照术前规划方式分为两组,一组为传统手术组;另一组为模拟手术组。共20例患儿均采用骨盆三联截骨术+股骨截骨术治疗,传统手术组10例,模拟手术组10例,手术时平均年龄为11.3岁,平均随访时间24.2个月。所有患儿均于术前行骨盆三维重建CT检查,测量CE角、股骨前倾角及髋臼指数,在mimics软件中,模拟手术方案,确定术中股骨截骨需要旋转的角度及骨盆截骨的位置,术中按照模拟手术的结果进行操作。术前评价指标使用Tonnis分级,术后评价指标使用改进的Trevor评分系统。结果:模拟手术组Tonnis分级3级4髋,Tonnis分级4级8髋;传统手术组Tonnis分级3级4髋,Tonnis分级4级9髋,两组患儿术前严重程度无显著性差异。依据Trevor评分,模拟手术组8髋(67%)优秀,3髋(25%)良好,1髋(8%)一般。传统手术组5髋(38%)优秀,5髋(38%)良好,3髋(23%)一般。两组有显著性差异。并发症:术后传统手术组3例患儿有不同程度的股骨头坏死。结论:大龄DDH患儿术前模拟手术,可以达到术中精确截骨及旋转角度,可改善患儿预后,实现该类患者的个体化治疗。     

Septo-optic Dysplasia

Four children are described who had hypoplastic optic nerves, absent septa pellucida, and various types of endocrinological dysfunction. The importance is stressed of recognizing this syndrome and of following up the growth of the patient, because now that human growth hormone is available the short stature of some blind children may be susceptible to treatment.     

股骨短缩截骨全髋置换术治疗青年Crowe IV 型髋关节发育不良

目的：总结股骨短缩截骨结合全髋关节置换术治疗青年Crowe IV 型髋关节发育不良（DDH）的近期疗效。方法：2009 年1 月 至2015 年1 月期间我院收治的22 例（24 髋）青年Crowe IV 型髋关节发育不良患者,其中男4 例（5 髋）,女18 例（19 髋）,年龄 17~27 岁,平均22 岁。记录患者术前、术后髋关节功能Harris评分、髋关节疼痛VAS评分和下肢长度差异。收集患者临床及影像 学资料。结果：22 例患者均获随访,随访时间6～72 个月,平均38 个月。截骨端均骨性愈合,愈合时间3～ 6 个月,平均3.2 个月。 Harris 评分由术前（43.2 ± 2.7）分改善至（95.3 ± 2.8）分,效果显著（P＜0.01）,髋关节疼痛VAS评分由术前(6. 0 ± 1. 0)分改善至 (1.0 ± 0.5) 分,疼痛明显缓解（P＜0.05）,下肢长度差异由术前（55.5± 15.5）mm减少至（16.5± 5.5）mm,显著改善（P＜0.01）。术后2 例合并坐骨神经麻痹,但6 个月内症状完全缓解,6 例遗留轻度跛行。随访期间均无假体翻修,未发现材料与宿主的生物相容性反 应。结论：股骨短缩截骨全髋置换术治疗青年Crowe IV 型髋关节发育不良的近期疗效满意,术中综合考虑软组织松解程度与短缩 截骨方式及长度可有效的解决患者肢体短缩、避免神经血管损伤及改善患者术后髋关节功能。     

Sumoylation of CCAAT‐enhancer‐binding protein α inhibits lung differentiation in Bronchopulmonary Dysplasia model rats

Bronchopulmonary dysplasia (BPD) is a major cause of mortality and morbidity in premature infants, characterized by alveolar simplification, surfactant deficiency, and respiratory distress. In the present study, we have investigated the functional roles of sumoylated CCAAT/enhancer binding protein alpha (C/EBPα) in the BPD rat model. A significant increase in small ubiquitin‐like modifier 1 (SUMO1) and sumoylated C/EBPα protein levels were observed in BPD rats, and the levels of the sumoylated C/EBPα were associated with the pulmonary surfactant proteins (SPs). In order to confirm the role of sumoylated C/EBPα in BPD rats, SUMO1 was knocked down by lentiviral transfection of neonatal rat lungs with SUMO1‐RNAi‐LV. We found that the expression of C/EBPα and surfactant proteins increased following SUMO1 knockdown. Furthermore, the relatively low decrease in the levels of C/EBPα sumoylation was correlated with reduced glycogen consumption. Besides, co‐immunoprecipitation assays revealed that sumoylation is involved in the regulation of the interaction between C/EBPα and TGFβ2 in the lung. In conclusion, our findings indicate that sumoylation may act as a negative regulator of the C/EBPα‐mediated transactivation in BPD rats.