多巴反应性肌张力障碍患者的GCH1基因突变检测

目的分析多巴反应性肌张力障碍(dopa responsive dystonia,DRD)患者的GCH1基因突变。方法我们抽取21例来自医院门诊及住院的散发型多巴反应性肌张力障碍患者的肘静脉血,并提取外周血全基因组DNA。Primer3设计GCH1基因6个外显子的引物,PCR扩增GCH1基因的外显子及周边部分内含子序列,并对PCR产物进行测序。测序结果与正常序列进行比对,发现碱基变异后进行序列分析以确定是否多态。结果成功扩增21位DRD患者GCH1基因的6个外显子。经过分析,GCH1基因外显子序列未发现基因突变。仅在4个患者的1号外显子发现1个单核苷酸多态(SNP)c.68CT,该SNP没有产生氨基酸的改变。结论本地区多巴反应性肌张力障碍患者未发现GCH1基因突变,DRD患者可能存在其他致病基因。GCH1基因突变检测目前仍不能作为早期诊断的依据。     

Role of prophylactic filter placement in the endovascular treatment of symptomatic thrombosis in the central veins

Objectives

To evaluate the role of filter implantation in reducing the incidence of fatal pulmonary embolism during the endovascular treatment of thrombosis in the major tributary of the superior vena cava (SVC).

Methods

From October 2004 to October 2008, we conducted a cohort study of 40 patients with thrombosis of the central veins who were preparing for endovascular interventions and received or did not receive filter. The symptom scores were measured, the incidence of pulmonary embolism (PE) was observed, and patient follow-up studies were conducted for three years.

Results

One week after therapy, the symptom score improved in both groups compared with before therapy (P < 0.001), but no significant difference was found between the scores of the two groups (P > 0.05). Four patients in the control group died from PEs after therapy, but no patients in the filter group presented evidence of PE. The survival rates at 1, 2, and 3 years (72.9%, 50%, and 27.1%, respectively) for the filter group were higher than those for the control group (47.6%, 19.0% and 14.3%, respectively; P = 0.015). The survival time of patients in the filter group with bronchogenic carcinoma (18 ± 2 months) was longer than that of the patients in the control group (12 ± 2 months) after the endovascular treatment (P < 0.001).

Conclusions

Prophylactic filter placement could be a safe and effective method for preventing PE in pre- or post-endovascular-treated patients with thrombi in their central veins.     

去卵巢及去松果体对大鼠纹状体细胞凋亡的影响

目的　探讨去卵巢 (OVX)、去松果体 (PX)对纹状体细胞凋亡的影响。方法　将大鼠随机分为正常、假OVX、OVX、假 PX、PX、假 OVX+假 PX、OVX+PX7组。术后 90 d,用 HE、TUNEL染色观察 OVX、PX对纹状体细胞凋亡的影响。结果　假手术各组与正常组在各项检测指标上无明显差异 ,合并为 A组 ;A组在纹状体偶有细胞凋亡但部位不恒定。与 A组比 ,OVX、PX使纹状体细胞凋亡数显著增多 (P <0 .0 1 ) ,并且 PX+OVX >PX>OVX(P <0 .0 1 ) ;各组纹状体无明显胶质细胞增生 (P >0 .0 5 )。结论　 OVX、PX可诱发纹状体细胞凋亡 ,而且 PX比 OVX影响大 ,OVX+PX影响更大 ;这种影响与胶质细胞无关。     

早发型阿尔茨海默病发病的可调控危险因素分析

目的分析早发型阿尔茨海默病(EOAD)患者发病的可调控危险因素,为EOAD的一级预防提供依据。方法选择福建省立医院神经内科自2015年1月至2020年4月收治的40例EOAD患者作为EOAD组,选择门诊同期体检、年龄、性别和受教育程度与EOAD组患者相匹配的健康对照者120例作为对照组。回顾性比较EOAD组与对照组人口学特征和临床资料,多因素Logistic回归分析确定EOAD发病的独立危险因素。结果与对照组比较,EOAD组患者伴有高血压、非外伤性牙齿松动和(或)脱落、颅脑外伤史、听力障碍、慢性应激和(或)焦虑及睡眠障碍者所占比例增高,差异均有统计学意义(P<0.05)。多因素Logistic回归分析结果显示,高血压(OR=4.559,95%CI:1.523~13.643,P=0.007)、非外伤性牙齿松动和(或)脱落(OR=5.345,95%CI:1.989~14.346,P=0.001)、听力障碍(OR=9.336,95%CI:2.033~27.850,P=0.000)、慢性应激和(或)焦虑(OR=7.375,95%CI:2.612~20.822,P=0.000)以及睡眠障碍(OR=4.875,95%CI:1.520~15.625,P=0.002)是EOAD发病的独立危险因素。结论有高血压、非外伤性牙齿松动和(或)脱落、听力障碍、慢性应激和(或)焦虑及睡眠障碍者易发生EOAD,重视上述危险因素的筛查和干预可作为EOAD的一级预防策略。     

ADAPT技术治疗急性大血管闭塞性卒中

目的 探讨使用直接抽吸首次通过技术(a direct aspiration first-pass technique,ADAPT)治疗急性大血管闭塞性卒中的安全性和有效性.方法 回顾性分析12例采用ADAPT技术治疗急性大血管闭塞性卒中病人的临床资料.应用脑梗死溶栓(thrombolysis in cerebral i...     

RAGE基因多态性与高血压左室肥厚、血清esRAGE水平的相关性研究

目的探讨晚期糖基化终末产物受体(RAGE)基因Gly82Ser多态性与EH-LVH患者及其血清内源性分泌型RAGE(esRAGE)水平的相关性。方法应用聚合酶链反应-限制性片段多态性(PCR-RLFP)的方法,检测94例EH患者(其中38例伴LVH)及50例对照组RAGE基因Gly82Ser多态性,同时采用ELISA法测定血清esRAGE水平。结果与正常对照组相比,EH组基因型频率和等位基因频率差异无统计学意义(P>0.05);EH-LVH组RAGE基因Gly82Ser位点的GS基因型频率和82Ser等位基因频率明显增高,差异有统计学意义(P<0.05);EH-LVH和EH组Gly82Ser SS基因型血清es-RAGE水平与对照组相比差异显著(P<0.05)。结论 RAGE基因Gly82Ser多态性与EH的发生发展无关;EH-LVH患者RAGE基因Gly82Ser GS基因型和82Ser等位基因增多,提示82Ser等位基因可能是EH-LVH发病的易感基因;RAGE基因Gly82Ser多态性与血清esRAGE水平显著相关。     

Protection of 3’-methoxy-puerarin against focal brain ischemia and its association with c-fos expression

The present study established a rat model of focal brain ischemia by occlusion of the middle cerebral artery covered with FeCl3, and investigated the protective effect of 3’-methoxy-puerarin. Hippocampal and cortical c-fos gene expression was determined using in situ hybridization. Results showed that 3’-methoxy-puerarin reduced neurological deficit scores, cerebral infarcted zone and water content of brain tissues, dramatically increased the activity of catalase and glutathione peroxidase in the ischemia zone of the hippocampus, increased the activity of catalase in the cortex, decreased lipid peroxide and lactic acid contents in the hippocampus and cerebral cortex, and down-regulated c-fos gene expression in brain ischemic rats. Results demonstrated that 3’-methoxy-puerarin exhibited cerebroprotective effects against focal brain ischemia, which involved c-fos gene expression.     

急性脑梗死患者血清白介素-6、白介素-18水平与颈动脉内中膜厚度关系的探讨

目的 探讨急性脑梗死(ACI)患者血清细胞因子白介素-6(IL-6)、白介素-18(IL-18)水平与颈动脉内中膜厚度(IMT)的关系.方法 以64例ACI患者作为ACI组,30例健康体检者为正常对照组,利用放射免疫法(RIA)和酶联吸附法(ELISA)分别测定其血清IL-6和IL-18水平,分别测量其颈动脉内中膜厚度(IMT)值并分为IMT<1.0mm和IMT≥1.0mm两个亚组.结果 ACI组中IMT≥1.0mm者IL-6、IL-18含量与正常对照组相比差异有统计学意义(P<0.05),与IMT<1.0mm者相比差异亦有统计学意义(P<0.05).ACI组中IMT≥1.0mm者IMT与IL-18水平呈明显正相关(r=0.549,P=0.001),与IL-6水平无明显相关性(P>0.05).结论 ACI患者IMT增厚者血清IL-6、IL-18水平也升高.     

Rapid pollutant degradation by peroxymonosulfate via an unusual mediated-electron transfer pathway under spatial-confinement

Nano-confinement systems offer various extraordinary chemical/physical properties, due to the spatial restriction and the electronic interaction between the confined species and the surrounding medium. They are, therefore, providing rich opportunities for the design of efficient catalytic reaction systems for pollutant removal. Herein, a highly efficient mediated-electron transfer pathway is identified on a spatially-confined zero valent cobalt for abatement of the organic pollutants by PMS. The catalyst showed efficient catalytic performance in both batch and a flow reactor for degradation of various pollutants, e.g., a degradation reaction constant of 0.052 s⁻¹ for sulfamethoxazole and 0.041 s⁻¹ for BPA. Regulated by the spatial-confinement, a distinctive inverse relationship between PMS decomposition rate and the electron density of the pollutant molecule was experimentally substantiated, e.g., in the presence of the electron-rich sulfamethoxazole, PMS decomposed slower than that with BPA, while in the presence of electron deficient diphenhydramine, PMS decomposed faster than that with BPA. The unique reaction mechanism endows the spatially-confined cobalt with the capability of eliminating the priority pollutants in the complex water matrix with pervasive halide ions and natural organic matter (NOM) via PMS activation.

A highly efficient mediated-electron transfer process of PMS activation on Co was achieved by construction of a spatially-confined reaction environment.