遗传性中枢神经系统多发性海绵状血管瘤4例临床特点

目的 回顾性分析一家系4例中枢神经系统多发性海绵状血管瘤（cavernous malformations,CMs）的临床特点,以提高对此病的认识。方法 对一家系4例中枢神经系统多发性CMs患者进行详细的病史询问、查体、颅脑影像学、脑电图检查。结果 此家系为常染色体不完全显性遗传可能,呈家族性发病、神经系统多个部位受损、磁共振成像（magnetic resonance imaging,MRI）上表现为“铁环”征是该病的重要特点,磁敏感成像（susceptibility-weighted imaging,SWI）序列提示结果更为敏感。结论 本家族性中枢神经系统CMs病灶多发,MRI是诊断此病的重要手段。     

帕金森病、P型多系统萎缩及进行性核上性麻痹的肛门括约肌肌电图及相关自主神经损害特点

目的 分析帕金森病(PD)、多系统萎缩和进行性核上性麻痹(PSP)的肛门括约肌肌电图(EAS-EMG)及相关自主神经损害特点,进一步探讨EAS-EMG在鉴别诊断方面的价值.方法 回顾性分析2001-2009年12月我院神经科肌电图室进行EAS-EMG检查的562例患者,对其中60例PD患者(男41例、女19例),68例以帕金森症状为主要表现的多系统萎缩(MSA-P)患者(男35例、女33例),13例PSP患者(男10例、女3例)的相关自主神经损害情况及肌电图进行比较.EAS-EMG选取平均时限、多相波比例和卫星电位出现率作为评价指标,比较各参数的组间差异,其中平均时限按照延长的程度分为轻度(10.0～11.9 ms)、中度(12.0～13.9 ms)、重度(≥14.0 ms).结果 在相关自主神经症状中,阳痿、便秘、尿失禁、尿急、尿频在MSA-P组中的出现率[95.8%(23/24)、94.6%(53/56)、87.7%(50/57)、85.7%(42/49)、76.5%(39/51)]明显高于PD组[61.5%(16/26)、62.3%(33/53)、30.6%(15/49)、46.2%(24/52)、45.7%(21/46)]及PSP组[75.0%(3/4)、62.5%(5/8)、50.0%(4/8)、42.9%(3/7)、42.9%(3/7)].PD、MSA-P和PSP的EAS-EMG异常出现率分别为60%(36/60)、94.1%(64/68)和84.6%(11/13).PD、MSA-P和PSP组间平均时限(ms,12.0±1.6、15.4±3.0、13.8±1.8)、多相波(46.2%±19.2%、63.9%±15.8%、51.5%±12.1%)和卫星电位出现率(9.5%±8.3%、26.5%±15.9%、19.2%±12.5%)的差异均有统计学意义(F=31.724、F=17.412、x2=45.335,均P＜0.01).平均时限延长程度PD组:轻度36.7%、中度36.7%、重度11.7%,正常15.0%;MSA-P组:轻度10.3%、中度23.5%、重度66.2%;PSP组:轻度7.7%、中度61.5%、重度30.8%;各组间的差异有统计学意义.结论 EAS-EMG可以用于鉴别PD、MSA-P和PSP的自主神经损害情况.肛门括约肌的损害较常见于MSA-P,且程度较重;较少见于PD,且程度较轻;PSP介于两者之间.平均时限延长程度的分布或许可以提示骶髓Onuf核在3种疾病中受累程度的差异.

Abstract：

Objectives To assess the value of external anal sphincter electromyography (EASEMG) in evaluating the related autonomic dysfunction in Parkinson's disease ( PD), parkinsonism dominant multiple system atrophy (MSA-P) and progressive supranuclear palsy (PSP). Methods From the records of EAS-EMG collected in our lab (total 562 cases), 60 PD (male 41, female 19), 68 MSA-P (male 35,female 33) and 13 PSP (male 10, female 3) were included in the analysis in this study. Mean duration,polyphasic ratio and satellite potential occurrence rate were comparable among the groups. Mean duration prolongation were graded as normal ( ＜ 10.0 ms), mild ( 10.0-11.9 ms), moderate ( 12.0-13.9 ms)and severe ( ≥ 14.0 ms). Results Among all related autonomic symptoms, the occurrence rate of constipation, urinary incontinence, urgency and frequency in patients with MSA-P(95.8% (23/24) ,94.6% (53/56) ,87.7% ( 50/57 ), 85.7% (42/49), 76.5% ( 39/51 ) ) were higher than that of PD ( 61.5%(16/26), 62.3% (33/53), 30.6% (15/49), 46.2% (24/52), 45.7% (21/46)) and PSP (75.0%(3/4) , 62.5% (5/8), 50.0% (4/8), 42.9% (3/7), 42.9% (3/7)). The abnormal rate of EAS-EMG in PD, MSA-P and PSP were 60.0%, 94.2% and 84.6%, accordingly. Mean duration ( PD ( 12.0 ± 1.6)ms, MSA-P (15.4±3.0) ms, PSP (13.8±1.8) ms), polyphasic ratio (PD 46.2% ±19.2%, MSA-P 63.9% ± 15.8%, PSP 51.5% ± 12.1% ) and satellite potential occurrence rate ( PD 9.5% ± 8.3%,MSA-P 26.5% ± 15.9%, PSP 19.2% ± 12.5% ) varied significantly different among the groups ( F =31.724, F = 17.412, x2 =45. 335, all P ＜0.01 ). Severe mean duration prolongation was overwhelming in MSA-P (66.2% ) , compared with mild 10.3% and moderate 23.5%. The predominant prolongation degree was moderate in PSP (61.5%, mild 7.7%, severe 30.8% ), and mild in PD (36.7%, moderate 36.7% ,severe 11.7%, normal 15.0% ). Conclusions EAS-EMG could play a role in evaluating the related autonomic dysfunctions in PD, MSA-P and PSP. The EAS-EMG impairment was severe and frequent in MSA-P, mild and infrequent in PD, moderate in PSP. The spectrum of mean duration prolongation suggested the possibility of Onuf's nucleus involvement in these diseases.     

糖原累积病Ⅱ型20例临床及病理特点

目的 总结糖原累积病Ⅱ型(GSDⅡ型)的临床及病理学特点.方法 回顾性分析20例经肌肉活体组织检查病理诊断的GSDⅡ型患者的临床和病理资料,并对部分患者进行随访.结果 20例患者中婴儿型1例,表现为全身肌力、肌张力低下,肌萎缩,运动发育迟缓,喂养困难,反复肺部感染合并心功能不全,血清肌酸激酶778 IU/L,肌电图示肌源性损害,超声心动图示肥厚性心肌病;晚发型19例(少年型18例,成人型1例),表现为双侧对称性四肢近端肌萎缩或呼吸肌无力等症状,呼吸肌与肢体肌受累可不平行.15例有实验室检查记录的患者中,14例血清肌酸激酶不同程度升高(208～2600 IU/L).17例行肌电图检查,9例为肌源性损害(其中1例伴易激惹现象),4例为可疑肌源性损害,1例为肌强直样放电,1例神经源性肌源性损害合并存在,2例正常.11例行超声心动检查,发现肥厚性心肌病1例,室间隔增厚、肺动脉高压各2例.肌活体组织病理检查均以肌纤维空泡样变为主要特征,空泡形态多样,多含有嗜碱性颗粒,过碘酸Schiff反应、酸性磷酸酶染色阳性反应明显.结论 GSDⅡ型在临床上表现为慢性肌病,以躯干肌和呼吸肌受累常见.多数患者血清肌酶轻度升高,肌肉病理检查有明显空泡样变,有助于确诊.

Abstract：

Objective To summarize the clinical and pathological features of glycogen storage disease (GSD) type Ⅱ. Methods The clinical and pathological data of the 20 GSD type Ⅱ patients were reviewed. Results One patient with infantile-onset mainly presented hypotonia, muscle weakness, feeding difficulties, pulmonary infection and cardiomyopathy insufficiency and increase of serum creatine kinase (778 IU/L) and echographic evidence of hypertrophic cardiomyopathy were detected. Electromyography studies indicated a definite myopathy. Nineteen cases were late-onset, presenting a slowly progressive proximal myopathy with truncal involvement or with symptoms dominated by respiratory insufficiency. Not all muscles were equally affected. Increase of serum creatine kinase (208-2600 IU/L) was detected in 14 patients and normal level in 1 patient. Electromyography studies indicated a definite myopathy in 9 patients,with abnormal irritability in 1 patient and susceptible in 4 patients and myotonic discharge in 1 patient and no abnormalities in 2 patients. Echographic evidence of thickening of the interventricular septum and pulmonary hypertension were detected in 2 patients respectively. The common light microscopic feature of all case was a vacuolar myopathy with high glycogen content and acid phosphatase activity in the vacuoles. Conclusions GSD type Ⅱ often presents slowly progressive myopathy which often affect the toro and respiratory muscles.In most patients the serum creatine kinase level is elevated slightly. Muscle biopsy is of use to make the definite diagnosis of this disease.     

颞下窝的冠状断层解剖学研究

目的 研究颞下窝的局部解剖特点,为临床医生提供立体、形象的解剖学资料.方法 应用冷冻铣切技术,完成一成人头颅断层标本的制作,通过计算机对头颅冠状薄层连续切片进行信号标定、提取和三维重建,获得颞下窝内有关结构的三维图像.结果 共获得396张颞下窝区的0.1 mm厚冠状断层,选取6个典型断层,描述了颞下窝的解剖特点.颞下窝的三维图像形态逼真,可以任意旋转、缩放、任意拆分和合并.结论 冠状断层解剖和三维重建相结合形象显示颞下窝的立体解剖关系,翼外肌和翼内肌是该区域的标志性解剖结构;三维重建图像可增加临床医生对颞下窝解剖关系的理解,可以作为手术入路选择的依据和模拟手术过程的工具.

Abstract：

Objective The study aims to provide three-dimensional anatomical data to physicians through studying the regional anatomy of infratemporal fossa.Methods Coronal sections of one cadaveric head were prepared with freezing milling technique.After labeling,extraction and reconstruction of the serial thin sections of the specimen,the three dimensional images of the infratemporal fossa and related structures were obtained.Methods Three hundred and ninety-six coronal sections with the thickness of 0.1 mm were obtained.Six typical sections were selected to depict the anatomical features of infratemporal fossa.The three-dimensional images of infratemporal fossa were vivid and could be rotated,zoomed out,divided and merged at will.Conclusion The combination of coronal sections and three-dimensional reconstruction could display the anatomical relationship of infratemporal fossa structures.Pterygoid muscles are landmarks of the region.Three -dimensional reconstructed images could help physicians in the understanding of anatomical relationship of infratemporal fossa structures and be the basis of surgical approach decision and useful tool in simulating the surgical procedures.     

抗精神病药引起代谢综合征的干预

目的：探讨综合干预对抗精神病药引起代谢综合征的疗效。方法：将正在服用抗精神病药并符合代谢综合征患者56例,分成干预组和对照组。干预组综合干预措施包括社工小组活动、康复体育锻炼、护理干预以及药物干预等,对照组只进行药物干预。研究3个月。用世界卫生组织生存质量测定量表（WHOQOL）和阴性症状评定量表（SANS）评估。结果：治疗后干预组腰围、体质量、三酰甘油、血糖均比对照组显著下降（P均〈0.01）;干预组生存质量提高,阴性症状减轻。结论：综合干预措施有效控制代谢综合征,有助于提高生存质量及改善阴性症状。     

精神分裂症与外周血清BDNF水平关系的系统综述(英文)

背景 脑源性神经营养因子(brain-derived neurotrophic factor, BDNF)在精神分裂症的发生和病程演变过程中所起的作用受到了越来越广泛的关注,但有关精神分裂症与外周血清 BDNF 水平关系的研究结果不尽一致。目的 综合国内外研究,系统评价精神分裂症患者外周血清BDNF水平的特点。方法 我们采用 Cochrane 系统综述方法和 RevMan 5.1 软件筛选研究并提取数据。通过国内外电子检索系统的检索并对获得文献的参考文献进行追溯评估,共检出268篇相关文献。其中25篇(20篇英文,5篇中文)被纳入分析,它们为 2011 年 12 月底以前公开发表的病例对照研究,研究对象为不伴有其他疾病的精神分裂症患者,采用酶联免疫吸附法检测BDNF的血清水平。系统综述的主要结局指标是病例组与对照组间合并的标准化均数差值(standardized mean difference, SMD)。由两位评价者根据 GRADE 系统的方法独立评估纳入研究的质量。采用RevMan 5.1 软件对研究的异质性、敏感性和可能的发表性偏倚进行检验。结果 累计 1663 例精神分裂症患者,1355 名对照纳入 Meta 分析。15 项被评估为低质量研究,10 项为极低质量研究。研究结果存在高度的异质性(I2=89%),但亚组分析结果表明,异质性与人种、样本量、年龄、性别、入组前是否服用抗精神病药物以及研究质量等因素不存在相关性。由于研究间异质性,采用随机效应模型计算合并SMD,结果为-0.74(95% CI, -0.99～-0.50; Z=5.99,p<0.001)。敏感性分析表明结果稳定性较好。无发表偏倚的证据。结论 尽管统计结果强有力地表明精神分裂症患者外周血 BDNF 水平低于对照人群,但由于现有研究的质量较低以及各研究之间的结果存在明显的异质性,精神分裂症患者外周血 BDNF 浓度低的证据应属较"弱"。今后需要开展高质量的前瞻性研究,对患者进行长期随访,并使用统一的入组标准和监测程序,如最终能证实这些初步结果,血清 BDNF 才有可能用作精神分裂症的生物学指标。     

循证医学在神经介入临床教学中的应用

【摘要】 循证医学（evidence-based medicine,EBM）教学法是一种不同于传统医学教学模式的新方法,将EBM运用到神经血管介入教学中,提高了学生的自主学习能力,有利于促进理论与实践的结合,锻炼了学生的临床科研思维能力,有助于培养创新型高素质神经介入医生。     

神经棘红细胞增多症的临床及神经影像学特征

目的 分析神经棘红细胞增多症的临床及头颅影像学特征.方法 回顾分析8例患者的临床资料并复习文献,周围血棘红细胞检测采用外周血涂片、红细胞盐水诱发实验和扫描电镜方法.结果 男性2例,女性6例;发病年龄10～35岁,平均发病年龄22岁,4例以口面舌部肌张力障碍为首发突出症状,3例以四肢远端不自主运动为首发突出表现,且于发病过程中累及口面部肌张力;1例以帕金森症状为主要临床表现.4例有癫痫发作,为全身强直阵挛发作.4例智力减退.6例肌张力低、腱反射低.8例患者外周血涂片光镜下7例棘红细胞增多,另1例外周血涂片正常,但红细胞盐水诱发实验和电镜下棘红细胞增多.所有患者肌酸激酶不同程度轻度升高.8例患者头颅MRI中,6例示不同程度侧脑室扩大,前角明显增宽;尾状核和豆状核萎缩.4例肌电图和神经传导速度检查,2例正常,2例示上、下肢神经源性损害,感觉纤维轴突受累为著.外周血棘红细胞检测:7例患者外周血涂片光镜下棘红细胞增多;8例红细胞盐水诱发实验阳性,2例电镜检查符合棘红细胞增多症.结论 神经棘红细胞增多症是一种主要累及基底节的进行性神经系统变性病,主要表现为口面肌张力障碍、舞蹈症、智力减退、癫痫发作,头颅影像学示不同程度的尾状核和豆状核萎缩,周围血的棘红细胞检测方式对该病有确诊意义.     

N-甲基-D-天冬氨酸受体亚单位2B特异性拮抗剂对缺氧缺血性脑损伤新生大鼠脑室下区神经干细胞增殖的影响

目的:研究N-甲基-D-天冬氨酸受体(NMDAR)亚单位2B(NR2B)特异性拮抗剂(Ro 25-6981)对缺氧缺血性脑损伤(HIBD)新生大鼠脑室下区(SVZ)神经干细胞(NSCs)增殖的影响。方法:7 d龄新生SD大鼠随机分为Ro 25-6981组(HIBD前2 h,腹腔注射Ro 25-6981 10 mg.kg-1)、HIBD组(HIBD前2 h,腹腔注射等剂量生理盐水)和假手术组(仅游离右侧颈总动脉,不结扎)。采用免疫组化学染色检测SVZ Nestin表达量及BrdU阳性细胞数的变化。结果:HIBD组12h后Nestin表达量开始增多,48 h达峰值,之后缓慢下降;与其相比,Ro 25-6981组在12 h和24 h时下降明显(P<0.05)。HIBD组BrdU阳性细胞数在缺氧缺血3 h后缓慢上升,72 h达高峰;与其相比,Ro 25-6981组在各时间点BrdU阳性细胞表达均有所下降,以24、48和72 h减少明显,尤以72 h为著(P<0.05)。结论:Ro 25-6981能够降低HIBD新生大鼠SVZ Nestin的表达及Brdu阳性细胞数,对SVZ NSCs增殖起抑制作用,提示NR2B参与并促进HIBD引起的SVZ NSCs的增殖。     

皮质下缺血性脑血管病认知功能障碍研究

目的应用系列神经心理学测试分析皮质下缺血性脑血管病(SIVD)患者的认知损害特征。方法入选SIVD患者53例,年龄及性别相当的健康老年人25例为正常对照组。SIVD患者按照认知损害的诊断标准分为血管性痴呆(VaD)组27例和血管性认知障碍非痴呆(VCIND)组26例。进行MMSE及血管性痴呆包括记忆力、注意力、语言、视空间结构及执行功能5个认知域在内的神经心理学测试,确定VCIND患者受损的认知域。结果①与正常对照组比较,VaD组患者各项量表测试均严重受损,具有统计学差异(P﹤0.05);②VCIND组患者MMSE、数字倒背评分下降,连线测验时间延长,差异有统计学意义(P﹤0.05);③VaD组与VCIND组相比,上述各项均受损严重,其中单词回忆、连线测验、画钟测验、数字广度测验评分差异有统计学意义(P﹤0.05)。结论①SIVD患者同时存在多个认知域损害,以执行功能、注意力损害较为突出,记忆、语言受累相对较轻;②VCIND患者表现为执行功能、注意力受损,程度均低于VaD组,晚期VaD患者全面认知功能明显下降。