Objective:To observe the genetic characteristics of medullary sponge kidney (MSK) patients and explore the role of genetic factors in the occurrence of MSK.Methods:Genetic testing was performed on 7 patients with MSK stones using whole-genome sequencing technology, and the difference in the whole-genome between MSK patients and normal individuals was analyzed. The difference was more than 10 times, which was considered statistical significance. It may be significantly associated with disease occurrence. Gene ontology (GO) was used to analyze the relationship between the genotypes and MSK occurrence. The MSK-related pathogenetic factors in Chinese population were screened out.Results:Two kinds of genes with high frequency in MSK patients, including molecular function (GO: 0005488 Gene 1003, GO: 0003674 Gene 1138, GO: 0005515 Gene 795, GO: 0005509 Gene 86, GO: 0043167 Gene 470); biological process (GO: 0007275 Gene 440, GO: 0048856 Gene 463, GO: 0032502 Gene 487, GO: 0009653 Gene 232, GO: 0032501 Gene 566), may lead to predisposition to MSK.Conclusion:MSK patients have a genetic predisposition to stones.

目的 筛选与自身免疫病相关兼职蛋白的B细胞优势表位肽并进行血清学检定.方法 利用DNAMAN软件分析不同物种热休克蛋白70(heat shock protein 70,HSP70)和α-烯醇酶氨基酸序列同源性,IEDB数据库和瓜氨酸化在线平台预测线性B细胞表位和瓜氨酸化修饰位点;间接ELISA检测抗HSP70和α-烯醇酶蛋白瓜氨酸化前后表位肽抗体.结果 同源性分析和IEDB数据库预测得到兼职蛋白HSP70和α-烯醇酶各10个B细胞优势表位肽;瓜氨酸化位点预测显示,其分别有9个和4个位点可能会发生瓜氨酸化修饰,其中5个瓜氨酸化修饰位点与预测表位肽重合.与正常人相比,抗环瓜氨酸肽抗体阳性患者血清抗瓜氨酸化修饰表位肽的抗体滴度明显增高(P＜0.05).结论 采用生物信息学分析和ELISA初步验证的方法有助于筛选自身抗原相关的B细胞优势表位肽.

目的 探讨帕金森病(PD)患者脑深部电刺激术(DBS)后焦虑改善率的影响因素.方法 选取340例接受DBS的PD患者,对比患者术前术后汉密尔顿焦虑量表(HAMA)评分,统计术后HAMA评分改善率;并分析年龄、性别、病程、术前统一帕金森病评定量表(UPDRS)评分、术前PD患者生活质量问卷(PDQ-39)评分、UPDRS-3改善率、起病症状、文化程度、靶点、Hoehn-Yahr分期、术前HAMA评分对焦虑改善率的影响.结果 本组患者DBS术后HAMA评分(12.32±7.69)比术前(16.91 ±8.78)明显降低(P ＜0.0001).单因素分析显示,焦虑改善率高的患者与改善率低的患者UPDRS-3改善率及术前HAMA评分间的差异有统计学意义(P＜0.01,P＜0.0001).Logistic回归分析显示,UPDRS-3改善率(OR6.434,95％ CI 1.531 ～ 31.04,P＜0.05)及术前HAMA评分(OR 1.173,95％ CI 1.102～1.259,P＜0.0001)是焦虑改善率的影响因素.结论 DBS可以改善PD病患者的焦虑症状;UPDRS-3改善率及术前HAMA评分与DBS后焦虑改善率密切相关.

目的 探究膀胱癌细胞Bloom综合征解旋酶(BLM)表达水平及其临床意义.方法 在GEPIA数据库检索BLM在膀胱癌中的表达水平,并在膀胱癌细胞系T24和人正常膀胱上皮永生化细胞SV-HUC-1中检测BLM表达水平;转染T24细胞sh-NC和sh-BLM,未转染细胞作为对照;检测T24细胞增殖和凋亡水平.结果 与非BLCA组比较,膀胱癌组织和细胞系T24细胞中BLM表达水平均上调(P<0.01).与对照组比较,T24+sh-BLM组T24细胞BLM mRNA表达水平降低,增殖能力下降,凋亡水平升高(P<0.01).结论 在膀胱癌中BLM基因表达升高,与膀胱癌疾病进程相关,敲低其表达可抑制细胞增殖、促进凋亡.

Objective:To explore the echocardiographic diagnosis of interruption of the aortic arch (IAA) and its accompanied cardiovascular malformations and syndromes.Methods:We retrospectively analyzed the imaging and clinical data of children with IAA confirmed by CTA and/or surgery at Beijing Children's Hospital, Capital Medical University from January 2014 to December 2019 to summarize the diagnostic characteristics of IAA and its accompanied cardiovascular malformations and syndromes and explore the rules of diagnosis.Results:A total of 38 cases were included, including 26 males and 12 females. The patients ranged in age from 2 days to 9 years old, with a median age of 3 months. Among the 38 cases, type A accounted for 87% (33/38), type B accounted for 13% (5/38), and type C accounted for 0. All the 38 cases were associated with other cardiovascular malformations. A total of six malformation combinations or syndromes were found, including the triad of interrupted aortic arch (55%, 21/33), Berry syndrome (8%, 3/38), combination with permanent fifth aortic arch (21%, 8/38), Shone syndrome (8%, 3/38), Phace syndrome (3%, 1/38), and simple combination with multiple collateral vessels (5%, 2/38). The abnormal blood vessels supplying the descending artery included patent ductus arteriosus, permanent fifth aortic arch, and collateral vessels. Of the 38 cases, 34 underwent CTA examination, 27 underwent cardiac surgical treatment, 37 were correctly diagnosed by echocardiography, and one patient with Shone syndrome was misdiagnosed with coarctation of the aorta.Conclusion:Echocardiography can be used to diagnose IAA and accompanied malformations and syndromes, which can improve the accuracy of comprehensive diagnosis, reduce misdiagnosis, and provide more information for surgery.

目的 应用多元Cox回归模型分析影响脓毒症患者预后的中医证候要素(证素)和危险因素.方法 选取在ICU住院治疗的364例脓毒症患者为研究对象,记录其入院时中医证素、临床指标以及住院30 d的临床结局,分析脓毒症患者中医证候特征及其与预后的相关性,应用多元Cox回归模型分析影响脓毒症患者预后的中医证素和其他危险因素,并构建判断脓毒症患者死亡危险的函数模型.结果 364例患者住院30 d时死亡率29.4％(107/364);中医证素分析发现,脓毒症患者常见中医病位在肺,所占比例为67.3％,痰浊和气虚是脓毒症患者最常见的病理证素,所占比例分别为56.9％和44.2％;单因素分析显示,影响脓毒症预后的中医证素为心(P＜0.05)、肾(P＜ 0.05)、阳虚(P＜0.01)、实热(P＜0.05);影响脓毒症预后的危险因素为GCS评分(P＜0.01)、RBC(P＜0.01)、Hgb (P＜ 0.05)、PLT(P＜ 0.01)、氧合指数(P＜0.05)、使用机械通气(P＜0.01)、心率(P＜0.01)、WBC (P＜0.01)及肌酐(P＜0.01);多元Cox回归模型分析结果发现证素心(0R=1.716,95％CI:1.090～2.703,P＜0.05)、WBC水平(0R=1.027,95％CI:1.001～1.053,P＜0.05)与脓毒症死亡率呈正相关,证素实热(0R=0.397,95％CI:0.224～0.703,P＜ 0.01)、PLT(OR=0.998,95％CI:0.996～1.000,P＜0.05)与脓毒症死亡率呈负相关.结论 脓毒症早期出现心、肾、阳虚证素的脓毒症患者预后较差,而实热证素与脓毒症死亡率呈负相关.

目的 探讨超声心动图在儿童肺动脉吊带的诊断及术后随访中的应用价值.方法 以76例肺动脉吊带患儿为研究对象,分析其超声心动图特点,与对照组106例健康儿童进行对比.43例手术治疗,术后超声随访,与术前对比,评估疗效.结果 76例患儿,年龄2 d～15岁5个月,年龄＜1岁者约65.8％.主要症状为反复喘息、呼吸困难、反复呼吸道感染.35例(46.1％)合并其他心血管畸形,动脉导管未闭20例,房间隔缺损8例,室间隔缺损7例.与对照组相比,肺动脉吊带组左肺动脉发育受限(P＜0.05),右肺动脉代偿性增宽(P＜0.05).术后患儿定期超声随访,左肺动脉发育及血流动力学得到改善(P＜0.05).结论 肺动脉吊带患儿发病年龄小,以呼吸道症状为主要表现,缺乏特异度.超声心动图对肺动脉吊带可早期明确诊断、进行术前评估及评价手术效果.

目的 探讨Shone's综合征的超声心动图特点、诊断方法及应用价值.方法 以Shone's综合征21例为研究对象,分析超声心动图特点.将左心系统畸形分为3个梗阻水平,比较超声及CT的诊断价值.术后超声随访,与术前比较,观察疗效.结果 21例中完全型2例,不完全型19例,二尖瓣瓣上环14例,降落伞型二尖瓣(PMV) 11例,主动脉瓣下狭窄10例,主动脉缩窄(COA) 15例.9例行CT检查及手术治疗,超声在左室流入道水平、主动脉瓣下及瓣膜水平诊断比CT更有优势(P＜0.05),在主动脉瓣上及主动脉弓降部水平诊断与CT无明显差异.术后超声随访,梗阻解除满意(P＜0.05).结论 超声心动图诊断Shone's综合征比CT更有优势.评估梗阻程度,需同时关注压差及解剖异常.应用超声早期诊断、准确评估对本病预后有重要意义.

专业运动员的脊柱伤病是损伤预防和运动康复领域中的重要临床研究课题.本文根据疾病分类回顾目前运动员脊柱脊髓损伤后重返赛场的相关情况,包括颈椎(颈部软组织损伤、颈椎骨折和脱位、颈椎管狭窄症、颈椎间盘突出症、刺痛和烧灼痛)、胸椎(胸椎骨折)、腰椎(腰肌劳损、腰椎峡部裂、腰椎滑脱、腰椎间盘突出症)和脊髓震荡与脊髓损伤.本文还分析了运动员颈、胸、腰段脊柱脊髓损伤后重返赛场的标准,以期为未来临床管理和建立共识/指南提供参考.

脊髓损伤患者的营养状况影响患者的康复及预后,未得到足够的重视,需要通过饮食控制及运动等联合措施来调节.此外,对医务人员的营养培训和对患者的营养教育都十分必要,医院的相关营养政策也应得到修订.目前关于脊髓损伤患者的营养评估标准还不健全,因脊髓损伤患者具有特殊性,对健康人群的评估标准并不适用,难以对营养不良进行早期发现.应利用评价量表、血液指标和皮肤皮褶厚度等建立适用于中国脊髓损伤患者的综合评估体系,并把营养评估作为日常管理的一部分.

Objective:To study the classification of persistent fifth aortic arch (PFAA) and the value of echocardiography in the diagnosis of PFAA.Methods:A total of 16 cases (male 6, female 10, at ages from 7 days to 4 years and 2 months old, the median age was 3 months) diagnosed with PFAA in Beijing Children′s Hospital Affiliated to Capital Medical University from January 2013 to June 2019 were studied retrospectively. The diagnosis standard, differential methods and misdiagnosed analysis of different subtypes of PFAA by echocardiography were summarized and analyzed.Results:The 16 cases included 1 case of type A1 double lumen aortic arch, 8 cases of type A2 single-lumen aortic arch, 3 cases of type B1 with pulmonary atresia and 4 cases of type B3 pulmonary artery branch arising from the distal end of ascending aorta. Only one patient of double lumen aortic arch missed diagnosis by echocardiography, and the rest were accurately diagnosed by echocardiography. CTA was performed in 13 cases, including 9 cases of type A, 1 case of type B1 and 3 cases of type B3, which confirmed the echocardiography diagnosis. Seven cases of Type A2 were operated.Conclusions:PFAA is a rare and complicated aortic arch malformation, which is divided into four major classification and multiple subtypes. Echocardiography can diagnose the PFAA and its classification, it is of great clinical significance for the early diagnosis, treatment and prognosis of children.

目的:总结儿童左肺动脉吊带的临床特点、诊断及手术疗效.方法:选取我院2010年1月至2019年1月手术治疗的51例左肺动脉吊带病例,年龄2个月至11岁7个月,中位年龄5.5个月,体重3.5～35.0 kg,男32例,女19例.进行超声心动图、CT及支气管镜检查.根据手术方式分为非气管手术组(n=47)以及气管支架组(n=4),术后1个月、4个月、1年应用超声心动图随访.结果:术后45例患儿好转,1例死亡,5例自动出院.非气管手术组患儿中,43例术后好转;4例术后呼吸衰竭难以纠正自动出院,2例为"环-吊带复合体",1例合并气管下段软化,1例气管下段重度狭窄.气管支架组患儿中2例术后好转;2例术后氧合难以维持,1例气管多处狭窄自动出院,1例为"环-吊带复合体"术后死亡.43例患儿完成术后1年随访,呼吸道症状均有不同程度改善,超声心动图随访可见,左肺动脉发育改善,吻合口未发生梗阻.结论:左肺动脉吊带矫治术可缓解大多数气管压迫症状,气道梗阻明显可行气管支架手术,但气管多处严重狭窄效果不佳."环-吊带复合体"、重度气管狭窄等患儿预后不良,可考虑行气管成形术.

Objective:To study the method and clinical effect of transcatheter closure of children′s secondary atrial septal defect (ASD) by femoral vein under the guidance of echocardiography.Methods:A total of 306 children (137 males and 169 females) with secondary ASD undergoing transcatheter closure surgery in the Department of Car-diology of Beijing Children′s Hospital from January 2017 to October 2019 were enrolled.The age of the patients was 2.1-15.0 years old [(6.18±2.45) years old], and the weight was 10-63 kg [(23.05±9.97) kg]. Among 306 children, 259 cases had single central ASD, with the defect diameter of 5-25 mm; 47 cases had ethmoid ASD, and the shunting range was measured to be 11-31 mm by echocardiography.Patients had normal cardiac function, and no other cardiac malformations were found.Eighteen children are complicated with other system malformations, including funnel chest in 5 children, chicken chest in 4 children, scoliosis in 4 children, epilepsy in 2 children, and Down′s syndrome in 3 children.In addition, there were 8 children with ASD and arrhythmia.Specifically, 3 cases were complicated by preexcitation syndrome, 3 cases by ventricular premature beat and 2 cases by supraventricular tachycardia.Three patients with ventricular premature beat, 1 patient with supraventricular tachycardia and 1 patient with preexcitation syndrome had indications of radiofrequency ablation.All the operations were performed in the same time with ASD occlusion via femoral vein under basic anesthesia.ASD occlusion was guided by transthoracic or transesophageal echocardiography.Results:Of all 306 cases enrolled, ASD occlusion was successfully performed in 301 cases under the guidance of echocardiography, but it failed in 5 cases due to the large ultrasonic defect during the operation.For these 5 patients, the occluder was successfully released by the method of left superior pulmonary vein under X-ray.The operation time (from the beginning of anesthesia to the sheath extubation) was 17-45 min, with an average of (21.25±8.84) min.The occluder model was 10-30 mm.The operation process was smooth, and there were no serious complications during and after the operation.Conclusions:ASD transcatheter closure by femoral vein puncture under the guidance of echocardiography is safe and feasible operation for children with ASD.It is minimally invasive and causes no radiation injury.

目的 应用超声心动图分析永存左上腔静脉(PLSVC)患儿合并先天性心脏病种类,提高超声诊断PLSVC及相关心脏畸形的准确率.方法 回顾性分析我院2013～2017年行超声心动图检查的212309例患儿的超声心动图资料及临床资料,其中先天性心脏病患儿28403例,永存左上腔静脉患儿1676例,分析永存左上腔静脉合并先天性心脏病类型的分布特征及发生率.结果 永存左上腔静脉的检出率约0.79％(1676/212309),其中Ⅰ型永存左上腔静脉最常见约占99.7％(1671/1676).永存左上腔静脉在先天性心脏病患儿中的检出率约3.0％(866/28403).1676例永存左上腔静脉的患儿中,合并先天性心脏心脏病的患儿866例(51.7％),常见的为室间隔缺损202例(23.3％)、房间隔缺损149例(17.2％)、法洛四联症73例(8.4％)、动脉导管未闭58例(6.7％)、主动脉该缩窄及主动脉缩窄复合畸形52例(6.0％)、心内膜垫缺损34例(4.0％)、右室双出口29例(3.3％).结论 永存左上腔静脉常合并先天性心脏大血管畸形;超声心动图检查可准确诊断永存左上腔静脉及其合并畸形,能够为临床制定患儿治疗方案提供可靠依据.

目的 探讨超声心动图在威廉斯综合征心血管系统病变诊断、治疗及随访中的应用价值.方法 以我院威廉斯综合征42例为研究对象,分析其心血管病变超声心动图特点.根据是否行手术治疗分为手术组及非手术组,对比二组临床及超声资料,分析影响手术时机选择的相关因素.手术组于术后1d、6个月、1、3年进行术后随访并与术前对比.非手术组确诊后1、3年进行门诊随访,观察其心血管病变变化情况.结果 42例威廉斯综合征均有主动脉瓣上狭窄,其中单纯性主动脉瓣上狭窄1 9例,合并肺动脉狭窄23例.手术组17例,非手术组25例,两组间各参数相比,主动脉瓣上狭窄程度及年龄与手术相关.手术组术后主动脉瓣上狭窄解除,压差下降,与术前相比差异有统计学意义(P＜0.05).非手术组随访显示,主动脉瓣上狭窄程度无明显变化,差异无统计学意义(P＞0.05),肺动脉分支狭窄缓解,差异有统计学意义(P＜0.05).结论 威廉斯综合征心血管系统病变具有典型超声心动图表现,结合特殊面容可进行临床诊断.主动脉瓣上狭窄程度及年龄是手术时机选择的相关因素.主动脉瓣上狭窄手术效果好,未行手术者其严重程度随着年龄增长无明显变化,肺动脉分支狭窄随着年龄增长呈缓解趋势.超声心动图在威廉斯综合征诊断、治疗及随访等方面有较大的应用价值.

Objective To investigate the treatment effect of subthalamic nucleus deep brain stimulation (STN-DBS) on anxiety level and anxiety components in patients with Parkinson disease (PD).Methods A retrospective study was conducted on 59 patients with PD who underwent STN-DBS treatment at Department of Neurosurgery,Beijing Tiantan Hospital,Capital Medical University from October 2015 to September 2017.Patients were preoperatively evaluated and tracked for more than one year to assess motor symptoms (UPDRS Ⅲ,Unified Parkinson's Disease Rating Scale,Part Ⅲ),quality of life (PDQ-39,39-item Parkinson's Disease Questionnaire),anxiety (Hamilton Anxiety Scale,HAMA) and anxiety component scores as well as PD drug use.Paired t-test was used to compare the above parameters between pre-operation and post-operation.Pearson correlation analysis was used to explore the relationship between the changes of HAMA and the component scores with other kinds of symptom improvement in PD patients after STN-DBS treatment.Results Significantly improved motor symptoms,quality of life and decreased PD-related drug use were observed in PD patients after at least one year of STN-DBS treatment (all P ＜ 0.001).The scores of HAMA total,somatic and psychogenic anxiety were also significantly decreased (P ＜ 0.001).Moreover,the improvement of HAMA total score and psychogenic anxiety score were positively related to the decrease of PDQ-39 scores (r =0.31,r =0.34,all P ＜ 0.05).However,those had no correlation with UPDRS Ⅲ improvement or decreased drug use (all P ＞ 0.05).On the other hand,there was no correlation between the improvement of somatic anxiety score and other symptom improvement (all P ＞ 0.05).Conclusion STN-DBS treatment on PD patients could decrease the anxiety level at follow-up of at least one year.There is positive correlation between improvement of anxiety and quality of life,which is more obvious for psychogenic anxiety.

磁共振波谱(MRS)能够直观定量分析组织的代谢情况.在康复领域中可用于脊髓损伤的预后判断、观察损伤后代谢变化;脑卒中后认知功能障碍评估、诊断及肌张力障碍机制研究;探索帕金森病的康复机制.在肿瘤中可用于前列腺癌和脑肿瘤的辅助诊断.除此之外,还应用于评估热射病的严重程度和预后,研究Duchenne肌营养不良症和多系统萎缩的发病机制.在动物实验中发现它可以优化实验设计方案.MRS也存在局限性,随着先进匀场算法等技术的发展将会被逐步突破.

To investigate the effect of subthalamic nucleus deep brain stimulation ( STN-DBS) on depression in patients with Parkinson’s disease (PD) and the correlation between depression and improvement of other symptoms. Methods The movement symptom, quality of life and depression level of 70 PD patients treated by STN-DBS for at least 12 months were assessed by unified PD rating scale part Ⅲ( UPDRS Ⅲ), 39 PD questionnaires (PDQ-39) and Hamilton depression scale (HAMD). The usege of PD drugs were also collected. Results After at least one-year STN-DBS treatment, both movement symptom and quality of life improved in PD patients, and drug use also decreased significantly (all P<0.001). HAMD scores and the seven factor scores all decreased after one-year treatment (all P<0.05). The improvement of HAMD total score in PD patients was positively correlated with the improvement of UPDRS Ⅲ drug ‘off’ period and the improvement of PDQ-39 score (all P<0.05). Various factors are related to other curative effects respectively: Anxiety/somatization was positively related to the improvement of UPDRS Ⅲ drug ‘off’ period and the improvement of PDQ-39 score ( all P<0.05); Weight loss was negatively related to drug reduction ( P<0.05); Cognitive disorders, sleep disorders and feelings of despair were positively correlated with the improvement of PDQ-39 score (all P<0.001). The block were positively correlated with UPDRSⅢ drug ‘on’,‘off’ period improvement and PDQ-39 score improvement (all P<0.05). There was no correlation between day and night changes and other symptoms. Conclusions After at least one-year STN-DBS treatment, depression in PD patients could be improved. In addition, different depression factors’ improvement is specifically related to the treatment effect on quality of life, movement symptom and the decrease of drug.

目的 探究呼吸系统常见致病菌金黄色葡萄球菌(Staphylococcus aureus,S.aureus)、肺炎链球菌(Streptococcus pneumonia,S.pneumonia)不同成分对人呼吸道肺泡Ⅱ型上皮细胞(A549细胞)结构与功能的影响.方法 A549细胞分别与S.aureus、S.pneumonia细菌培养上清、 细菌裂解物及灭活菌体共培养,采用CCK8方法检测上述不同细菌成分对A549细胞增殖功能的影响,采用流式细胞术(flow cytometry)检测不同刺激物诱导细胞发生凋亡与坏死的作用,采用酶联免疫吸附试验(ELISA)测定其对炎症细胞因子白细胞介素6、白细胞介素8(IL-6、IL-8)分泌的影响,利用Western blot及细胞免疫荧光染色方法探究不同刺激成分对A549细胞紧密连接蛋白ZO-1、Claudin1、Occludin表达的影响.结果 两种细菌培养上清及S.pneumonia裂解物可显著抑制A549细胞增殖并诱导细胞出现凋亡和坏死现象(P<0.05);两种细菌培养上清及细菌裂解物均可促进上皮细胞分泌IL-6,且两种细菌培养上清及S.pneumonia裂解物亦可促进上皮细胞分泌IL-8;两种细菌培养上清及各成分,仅S.aureus灭活菌体可降低紧密连接蛋白ZO-1的表达,但其对另外两种紧密连接蛋白Claudin1和Occludin的表达无显著影响.结论 两种细菌感染过程中,不同细菌及细菌的不同成分对上皮细胞作用并不完全相同.细菌培养上清和细菌裂解物主要影响上皮细胞增殖、炎症因子分泌等功能,S.aureus灭活菌体可降低紧密连接蛋白ZO-1的表达进而影响上皮细胞间紧密连接的完整性.

目的 探讨儿童暴发性心肌炎临床特点及超声心动图在其诊疗过程中的应用价值.方法 回顾性分析35例我院确诊暴发性心肌炎患儿病历资料、超声心动图报告及图像,对其首发症状、实验室检查、心电图和超声心动图特征等进行总结分析.结果 35例患儿(中位年龄107个月),首发症状多不典型,起病急,病情重.患儿心肌酶增高者25例(89.3％)、心律失常者28例(87.5％)、心功能减低者23例(71.8％)、心室壁增厚者9例(28.1％)、心包积液者15例(46.8％)、合并血栓形成2例(6.2％).结论 儿童暴发性心肌炎有明确的临床特征,且超声心动图在儿童暴发性心肌炎诊疗及预后评估中具有重要价值.