马尾神经根动静脉瘘的诊治分析

目的探讨马尾神经根动静脉瘘的诊断和治疗结果。方法回顾性纳入2000年1月至2015年12月首都医科大学宣武医院诊治的马尾神经根动静脉瘘9例患者,男6例,女3例,年龄17~58岁,平均(39±14)岁。经全脊髓DSA或手术证实诊断(病变位置位于马尾神经上,由滋养神经根的动脉供血,引流静脉向上汇入髓周静脉)。分析患者的临床资料、影像资料和治疗随访结果。结果患者表现为双下肢无力和排尿排便功能障碍,术前脊髓功能AminoffLogue评分(7.2±3.2)分,病程中位数6.0(4.5~18.0)个月。造影显示病变的血管构筑类型分为单纯瘘型和微小畸形团型,供血动脉均为髂内动脉神经根支,3例合并圆锥部位髓内动静脉畸形。血管内栓塞治疗8例,手术治疗1例,无手术相关并发症。平均随访期为(20.1±6.7)个月,影像学随访显示均达解剖治愈,治疗后AminoffLogue评分降至(4.6±2.8)分,治疗前后比较差异有统计学意义(t=4.276,P0.05)。结论马尾神经根动静脉瘘可通过DSA进行诊断,有症状患者符合血管内治疗或手术治疗适应证,治疗后解剖学和功能学预后均得到有效改善。     

纤维蛋白胶复合博莱霉素对兔下肢浅静脉的损伤效应及纤维化研究

目的:探索纤维蛋白胶复合博莱霉素(FG/BLM)对兔下肢浅静脉的损伤效应及纤维化过程.方法:分别将FG、FG/BLM注射到12只成年兔两侧下肢浅静脉内,注射后3、7、14、28 d获取标本(n=3),大体及组织学观察.结果:大体观察发现FG、FG/BLM注射后在静脉内形成呈半透明或暗红色栓子,2周后静脉逐渐变细并纤维化...     

广西七城市围产儿先天畸形流行特征的调查分析

目的为了解广西围产儿先天畸形的流行特征.方法对2000年在广西南宁、柳州、桂林、玉林、梧州、钦州、北海七个城市所属62所医院(不包括郊区和县医院)出生的513例先天畸形儿进行调查分析.结果七个城市先天畸形总检出率为12.35‰,其中男性为13.32‰,女性为10.48‰,男女之比为1.3:1;七个城市中以梧州市、玉林市检出率较高,北海市较低;城镇先天畸形检出率为12.20‰,乡村(指常住乡村来城市分娩的产妇)检出率为11.55‰,但两者标准化检出率无显著性差异;产妇不同年龄组先天畸形标准化检出率无显著性差异;在所检出的各类先天畸形中,以巴氏水肿综合征为最多.结论先天畸形的发生存在性别和地区差异.     

Systemic Hemodynamic Changes in Low-Dose Ethanol Embolotherapy for Soft-Tissue Arteriovenous Malformations

Background Ethanol embolotherapy is considered an optimal choice for the treatment of arteriovenous malformations(AVMs);however,there are some complications associated with this treatment.This study aimed to prospectively investigate systemic hemodynamic changes in high-flow AVMs using ethanol embolotherapy.Methods From September 2012 to September 2014,34 male patients and 26 female patients with AVMs who underwent embolotherapy(100 sessions in total)with absolute ethanol were included in this study.Invasive systolic blood pressure(SBP)and heart rate(HR)were recorded before and after each injection and throughout the procedure.Differences between the initial and highest SBP(ΔmaxSP)and HR values(ΔmaxHR),as well as the initial and final SBP(ΔSP)and HR(ΔHR)values,were analyzed.We aimed to explore the potential association between these values and the amount of ethanol that was used.Results The total ethanol used was variable(0.01–0.40 mL/kg;mean,0.20 mL/kg).SBP and HR increased after ethanol injection in most sessions(91 in 100 sessions).SBP decreased in 9 sessions(9 in 100 sessions),while HR,oxygen saturation,and end-tidal CO2 decreased in one of the 9 sessions.ΔmaxSP andΔmaxHR averaged 38.4 mmHg and 27.8 bpm,respectively(both P<0.05),whileΔSP andΔHR averaged 3.4 mmHg and 4.0 bpm,respectively(both P<0.05).ΔmaxSP andΔmaxHR were positively correlated with the total dose of ethanol injected.Conclusions Elevations in SBP and HR during ethanol embolotherapy are common,temporary,and most likely pain-mediated;these increases tend to be positively correlated with ethanol dose.Hypotension may be regarded as an acute complication of ethanol embolotherapy.Hypotension combined with bradycardia,oxygen desaturation,and decreased end-tidal CO2 may be a potential predictor of cardiovascular collapse.     

神经导航及神经电生理辅助下显微手术治疗脑干海绵状血 管瘤

目的 探讨脑干海绵状血管瘤的手术适应证、手术时机、手术入路及手术技巧。方法 回顾性分析2013年3月至2018年12月神经导航及术中电生理监测辅助下显微手术治疗的60例脑干海绵状血管瘤的临床资料。结果 肿瘤全切除57例;次全切除3例,术后辅助伽玛刀治疗。出院时神经功能障碍改善34例,无变化21例,加重8例。无手术死亡病例,无颅内感染及脑脊液漏。术后随访3~60个月,平均（27.1±13.5）个月,术后症状加重8例中,2例好转,3例恢复至术前,3例无明显变化。肿瘤全切除病例未见肿瘤复发。伽玛刀治疗3例中,1例再出血。结论 脑干海绵状血管瘤手术需严格掌握适应证,选择合理手术时机,根据病灶位置采取个体化入路,联合神经导航及电生理监测等辅助技术,可以完整切除肿瘤、减少并发症,改善病人预后。     

RNA-Seq analysis in an avian model of maternal phenylketonuria

Cardiac malformations (CVMs) are a leading cause of infant morbidity and mortality. CVMs are particularly prevalent when the developing fetus is exposed to high levels of phenylalanine in-utero in mothers with Phenylketonuria. Yet, elucidating the underlying molecular mechanism leading to CVMs has proven difficult. In this study we used RNA-Seq to investigate an avian model of MPKU and establish differential gene expression (DEG) characteristics of the early developmental stages HH10, 12, and 14. In total, we identified 633 significantly differentially expressed genes across stages HH10, 12, and 14. As expected, functional annotation of significant DEGs identified associations seen in clinical phenotypes of MPKU including CVMs, congenital heart defects, craniofacial anomalies, central nervous system defects, and growth anomalies. Additionally, there was an overrepresentation of genes involved in cardiac muscle contraction, adrenergic signaling in cardiomyocytes, migration, proliferation, metabolism, and cell survival. Strikingly, we identified significant changes in expression with multiple genes involved in Retinoic Acid (RA) metabolism and downstream targets. Using qRTPCR, we validated these findings and identified a total of 42 genes within the RA pathway that are differentially expressed. Here, we report the first elucidation of the molecular mechanisms of cardiovascular malformations in MPKU conducted at early developmental timepoints. We provide evidence suggesting a link between PHE exposure and the alteration of RA pathway. These results are promising and offer novel findings associated with congenital heart defects in MPKU.     

液氮冷冻治疗婴幼儿唇黏膜静脉畸形的效果观察

目的 探讨液氮冷冻治疗婴幼儿唇黏膜静脉畸形的效果. 方法 57例唇黏膜静脉畸形患儿采用液氮冷冻治疗. 男35例,女22例,平均年龄7. 4个月. 术前、术后及每次复诊拍照记录,对治疗结果进行评估. 结果 随访2~16个月,71. 9%(41/57)完全有效,19. 3%(11/57)明显有效,8. 8%(5/57)部分有效. 所有病例均未出现严重并发症. 结论 液氮冷冻治疗唇黏膜静脉畸形安全、有效.