Hereditary neuropathy with liability to pressure palsies

Summary Clinical, neurophysiological and pathological investigations were carried out in 11 affected members of 2 families with hereditary neuropathy with liability to pressure palsies (HNPP). The observations were related to findings in 261 cases of 47 families published in the literature. It was concluded that HNPP is a nosological entity characterized by the following diagnostic criteria: (1) an autosomal dominant inheritance; (2) the clinical presentation of a recurrent mononeuropathy simplex or multiplex, frequently related to an inadequate trauma to peripheral nerves; (3) a significant slowing of motor and sensory conduction velocity in clinically affected, but also in clinically unaffected nerves; (4) characteristic morphological findings in sural nerve biopsy featuring tomaculous swellings of myelin sheaths, transnodal myelination and segmental demyelination. The pathogenesis of HNPP is not clear. Hypothetical explanations of the pathogenesis of HNPP are discussed.In memory of Albert Bischoff (1921–1981), Professor of Neurology, University of Berne     

Occlusion of the cerebral arteries in Recklinghausen's disease

Summary Two children, aged 18 months and 6 years, who had Recklinghausen's disease, had occlusion of cerebral arteries. One child had no motor deficit but the other had right hemiparesis and partial occlusion of the left posterior cerebral artery, a fact not found in the literature.     

超声观察肝癌多次肝动脉栓塞术治疗前后肝脏声像图的变化及其预后的评估

目的探讨超声在评估肝癌肝动脉栓塞术后肝硬变受损程度方面的价值.方法对43例原发性肝癌患者进行了肝动脉栓塞术前与术后临床肝功能检查及超声分析.结果多次肝动脉栓塞术后肝硬变程度加重,根据Child‘s分级肝功能下降率达67.4%,超声检查肝硬变加重率达70%.两者检查结果相一致.结论超声观察肝内回声的变化对评估多次肝癌肝动脉栓塞术后肝功能损害程度有重要作用.     

甲状腺动脉栓塞治疗难治性甲状腺机能亢进

目的 探讨经导管甲状腺动脉栓塞治疗难治性甲状腺机能亢进的方法及疗效。方法 使用高压消毒后明胶海绵、聚乙烯醇(PVA)微球栓塞甲状腺上动脉及下动脉。结果 13例病人甲状腺动脉栓塞成功，颈围缩小，11例T3、T4降至正常，2例轻废增高。结论 经导管甲状腺动脉栓塞治疗难治性甲状腺机能亢进可作为内外科治疗及^131I治疗替代疗法，只要正确掌握操作方法，是安全有效的。     

Factors causing differences in voiding parameters between conventional and ambulatory urodynamics

Voiding parameter values measured with ambulatory urodynamic monitoring (AM) are generally found to be different from those measured with conventional cystometry (CMG). The reason for this is unclear, but might be related to differences in the voided volume. To verify this hypothesis, we compared voidings from female patients at an initial bladder volume that was close to the modal volume (that is, the volume most often voided by the patient as derived from frequency/volume charts) with voidings at maximum cystometric capacity during a routine video urodynamic examination. A first group of 35 patients voided at the modal volume before they did at capacity. The order was reversed in a second group of 12 patients. The dependence of the voiding parameters on the voided volume and the order of the measurements were examined. It was found that the maximum flow rate depended significantly on the voided volume, but the associated detrusor pressure did not. Urethral resistance and bladder contraction strength were not volume dependent either. It was concluded that the differences between AM and CMG cannot be explained from possible differences in the voided volume. Received: 23 August 1999 / Accepted: 16 December 1999     

Aortic Stenosis and Patent Ductus Arteriosus: Pressure Gradients Pre- and Posttranscatheter Ductal Occlusion

Three patients with patent ductus arteriosus and moderate aortic stenosis had a marked reduction in aortic valve gradient following transcatheter ductal occlusion. The hemodynamic effects of an aortopulmonary shunt on the severity of left ventricular outflow obstruction and the implications on intervention are discussed.     

动脉化疗在中晚期膀胱癌治疗中应用的初步报告

自1996年1月至今，我科为12例晚期膀胱癌患者施行了髂内动脉灌注化疗。结果：1例T4期降至T2期后给予膀胱部分切除；7例经手术＋动脉化疗，2年复查未发现复发现象；4例带瘤生存，病灶无进展。动脉化疗毒性反应较轻，疗效是肯定的，为中晚期膀胱癌开辟了一条新的治疗途径。     

压力及维生素B1作用下视网膜神经细胞p53、MDM2及Ref1基因的表达

目的:探讨压力及压力加维生素B1联合作用下SD大鼠视网膜神经细胞p53、MDM2及Ref1基因的表达情况。方法:新生SD大鼠视网膜神经细胞体外培养,倒置相差显微镜观察细胞的生长情况,细胞分单纯加压组、实验加压组(加入维生素B1)及未加压对照组,于加压后2 d(培养第9~10天)行苔盼兰染色检查计数细胞成活率,p53免疫组化检查并提取细胞总RNA,用逆转录聚合酶链反应法检测p53、MDM2及Ref1基因的表达。结果:单纯压力组p53／MDM2基因的表达较正常未加压组增强,Ref1基因表达无增强;而维生素B1作用后的加压组,其p53／MDM2基因的表达较单纯加压组明显减弱。结论:压力作用下视网膜神经细胞的损害有凋亡机制参与,维生素B1对压力作用下视网膜神经细胞具有保护作用。     

压力容量超负荷大鼠模型右心室重塑过程中细胞间质的改变

目的：通过人工套接大鼠右侧颈动静脉，造成左向右分流，导致大鼠右心室压力容量负荷增加，从多个不同层面研究大鼠右心室重塑过程中细胞间质的变化。方法：设4个实验组与4个对照组，每组10只体重、性别相匹配的近交系Wistar大鼠。实验组无菌手术套接大鼠右侧颈总动脉与颈外静脉，造成左向右分流，于术后1、2、4、8周分别测定动物体重(BW)，右心室与左心室加室间隔质量之比［R/(L+S)］及右心室质量与体重之比(RV mg/BW g)；右心室组织切片，普通光镜下观察组织学的改变，并利用计算机形态学分析软件分析细胞与间质的改变；提取右心室心肌组织中mRNA，应用RT PCR法测定Ⅰ、Ⅲ型胶原、纤维结合素Ⅰ基因表达量的变化。对照组手术操作同试验组，唯不套接动静脉，同样条件饲养。结果：术后第1周开始，试验组大鼠右心室压力即明显高于对照组，术后第1、2、4、8周之间相比，无统计学意义。试验组大鼠（RV mg/BW g）在术后8周时有统计学意义（0.64±0.05 vs 0.43±0.03，P＜0.01）; R/(L+S)至第8周时也有类似变化（0.36±0.04 vs 0.21±0.02，P＜0.05 ）；所有试验大鼠均未发生心衰现象，与对照组相比，Ⅰ、Ⅲ型胶原mRNA表达量在第1、4、8周时改变不明显，第2周时有统计学意义(Ⅰ型胶原：0.93±0.18 vs 0.79±0.07，P＜0.05；Ⅲ型胶原：0.43±0.07 vs 0.36±0.07，P＜0.05。平均光密度法)。纤维结合素Ⅰ第1周时即可检测到mRNA表达量升高，与对照组相比有统计学意义（0.26±0.06 vs 0.20±0.05，P＜0.05）；第2、4、8周时与对照相比无统计学差异。结论：①压力容量负荷改变能够引起大鼠右心室的重塑，包括心肌细胞和细胞周围基质，不同的改变可以有不同的时间特征，并和右心室压力有明显相关性；②反映细胞周围基质改变的Ⅰ型胶原、Ⅲ型胶原、纤维结合素Ⅰ基因在改变的早期出现明显改变，说明右心室重塑是机体对外界环境改变积极适应的结果。     

子宫腺肌病UAE治疗后妊娠及分娩的研究

目的:了解子宫腺肌病子宫动脉栓塞治疗(UAE)后患者的妊娠情况及结局,探讨该治疗方法对生育功能的影响。方法:对我院所完成的252例因子宫腺肌病行UAE的病例进行追踪观察,了解治疗后妊娠情况及结局。结果:①252例患者中有13例共16次妊娠,均为自然受孕。受孕时间为术后3~43个月,平均为13个月。②没有生育要求的208例患者中,有4例(4次)意外受孕:2例(2次)药物流产,2例(2次)行人工流产术。其中1例行人工流产术的患者取其绒毛组织作染色体检查正常。③有生育要求的44例患者中有9例12次妊娠(妊娠2次者1例,妊娠3次者1例),受孕率为27.3%(12/44)。其中足月顺产分娩3例,足月要求剖宫产和术中切除子宫1例,因胎膜早破早产要求行剖宫产1例,此5例均未发生产后出血,新生儿常规体格检查均未发现异常。自然流产4例(4次),均为孕4个月内胚胎停止发育。目前正在妊娠中患者1例,该患者行血液唐氏综合征筛查风险值为1/780,B超符合孕周,发育良好。结论:子宫腺肌病UAE治疗后可以正常受孕和分娩,但可能存在流产和早产的高危因素。