基因诊断确诊仅中脑和脑桥异常影像表现的Wilson病1例报告

正Wilson病(WD)是一种少见的常染色体隐性遗传性铜代谢异常疾病,患病率为1/30 000,携带者频率为1/(150～180)[1]。这种疾病是由于13q14. 3的ATP7B基因突变,导致过量的铜在肝脏聚集,达到饱和后释放入血[2]。其特征是过多的铜在各种组织中,尤其是肝脏和脑组织中的异常积累,角膜、肾脏、骨骼、口腔组织[3-4]等也可以受累。临床表现多种多样,主要特征是肝脏病变和神经精神症状[5],少数患者以肾功能不全、骨折、关节炎、牙痛、自主神经功能紊乱为首发表     

颅神经血管压迫症的MR血管断层表现与微血管减压术疗效的相关性

Objective To explore the correlation of the operation effects of the miorovascular decompression(MVD) and the findings on magnetic resonance tomographic angiography(MRTA) in patients of neurovascular compression of the cranial nerves.Methods Two hundred and twenty three patients treated with the microvascular decompression were analyzed retrospectively.They were grouped and graded according to the vessel compression on the cranial nerves.The compression were grouped as none, moderate and severe, and the operation effects were graded as Ⅰ ( complete relief), Ⅱ ( partial relief) and Ⅲ ( no relief).The operation effects grades were correlated according to the compression groups by Kruskal-Wallis test and the operation effects between each two of the groups were compared using Nemenyi test.P < 0.05 was defined as statistic significant.Results Of the 53 cases of non-compression group, 31 cases were graded as Ⅰ , 13 cases were graded as Ⅱ and 9 cases were graded as Ⅲ, according to the operation-effects of the decompression.Of the 110 cases of moderate group,95 cases were grade as Ⅰ , 11 cases were graded as Ⅱ and 4 cases were graded as Ⅲ.Of the 60 cases of severe group, 48 cases were graded as Ⅰ, 7 cases were graded as Ⅱ and 5 cases were graded as Ⅲ.There were statistic significance among the three groups,where χ2= 16.84 and P <0.05.The mean rank of the non-compression, the moderate and the severe group was 134.21,102.37 and 110.4 ,respectively.The difference of the mean ranks between the non-compression group and the moderate group was 31.84, and between the non-compression and the severe group was 24.17, respectively, where P < 0.05 both.Conclusions There was close relationship between the findings on magnetic resonance tomographic angiography and the operation effects of the MVD.The operation effects of patients with moderate and severe vessel compression were much better than the non-compression group.MRTA is helpful for MVD surgical indication and its prognosis.     

多囊卵巢综合征与非酒精性脂肪肝的相关性研究进展

目前研究表明,多囊卵巢综合征与非酒精性脂肪肝关系密切,二者无论是在病理基础、临床症状还是治疗上均存在联系。代谢综合征是联系多囊卵巢综合征与非酒精性脂肪肝的纽带,其典型特征——向心性肥胖、胰岛素抵抗、糖耐量受损以及血脂代谢障碍等临床问题,常困扰着多囊卵巢综合征及非酒精性脂肪肝患者。同时,二者在病因上主要与肥胖及胰岛素抵抗有关,并涉及与胰岛素信号通路相关的候选基因及葡萄糖载体4等小分子物质。此外,二者在治疗上存在的许多共同之处,包括减轻体重,应用胰岛素增敏剂、他汀类药物等。     

氧化应激在多囊卵巢综合征中的作用机制及中医药治疗研究进展

综述氧化应激(OS)在多囊卵巢综合征(PCOS)中的作用机制及中医药治疗研究进展。研究表明,OS在PCOS中,因雄激素过多、胰岛素抵抗、线粒体功能障碍以及炎症等进一步加重PCOS患者体内代谢紊乱,并影响PCOS患者孕期宫内环境,造成不良妊娠结局。中医药治疗应用中药单体、复方及针灸等,可有效改善患者体内OS水平,从而缓解患者临床症状,提高其生活质量。     

ApoM在不同肝细胞中的表达及其与临床病理因素的关系

目的:检测ApoM基因在肝硬化肝组织、正常肝组织、肝癌组织和癌旁组织中的表达并探讨其与肝癌临床病理联系。方法:采用免疫组化方法检测79例肝癌及癌旁组织、32例肝硬化及7例正常标本中ApoM的表达。结果:肝细胞癌患者组织中ApoM表达水平明显高于癌旁组织(P<0.001)。ApoM在肝细胞癌组织、癌旁组织肝硬化组织和正常肝组织中表达具有显著性差异(P<0.05)。ApoM在中、高分化肝癌组织中表达高于低分化型。结论:ApoM在正常肝细胞中呈弱表达,肝硬化组织中较高表达,但在肝癌组织中呈低表达。其表达水平与肝癌细胞分化有一定关联,这表明ApoM在肝癌细胞发生、发展中发挥着作用。     

成人Ph染色体阳性急性淋巴细胞白血病免疫表型特征分析

本研究旨在了解成人Ph染色体阳性（Ph^＋）的急性淋巴细胞白血病（ALL）免疫表型特征,并初步探讨其在预测疾病预后和指导临床治疗中的价值。应用多参数流式细胞仪（MFC）技术对35例Ph^＋ALL和59例Ph—ALL患者的标本（骨髓或外周血）进行细胞免疫表型检测,并分析其异常表达。结果显示：所有Ph^＋ALL均为B淋系表达;Ph^＋B—ALL患者CD34和CD13表达较Ph—B—ALL显著增高（P〈0．05）,而CD38表达较Ph—B—ALL明显减低（p〈0．05）;两组患者伴髓系表达比例分别为85．7％和61．O％,Ph^＋B—ALL组显著增高（P〈0．05）,表达的髓系抗原主要为CD13和／或CD33。结论：Ph^＋ALL存在较为特征性的免疫表型,在成人B—ALL中CD34、CD13和CD38的免疫表型分析有助于提示存在Ph染色体的可能,对于存在上述特征性免疫表型的成人ALL患者应进行bcr／abl融合基因检测。以上特征性免疫表型将有助于临床上对这组疾病进展迅速、预后差的亚型患者进行预测,并指导一临床个体化治疗。     

食管结核误诊为食管癌2例分析

食管结核很少见 ,临床上极易被误诊。 1999年 ,我们曾将2例食管结核患者误诊为食管癌。现报告如下 ,并分析其误诊原因。临床资料 :本组 2例食管结核患者均为男性 ,年龄为 37岁和 48岁。初诊为食管癌 ,后经手术病理证实为食管结核。其主要临床表现为吞咽困难 ,烧灼感 ,消瘦 ,低热等。本组 2例均行食管钡餐检查 ,显示食管下段病变 ,表现为食管局部狭窄 ,充盈缺损 ,近端食管轻度扩张 ,钡剂通过缓慢。拟诊食管癌。为慎重起见 ,我们又行上消化道内镜检查。食管下段表现为纵行溃疡肿块 ,长 2 .5～ 4cm,环食管壁 1/ 2～ 1/ 3生长 ,表面覆盖白苔 ,边…     

颅神经血管压迫症的MR血管断层表现与微血管减压术疗效的相关性

Objective To explore the correlation of the operation effects of the miorovascular decompression(MVD) and the findings on magnetic resonance tomographic angiography(MRTA) in patients of neurovascular compression of the cranial nerves.Methods Two hundred and twenty three patients treated with the microvascular decompression were analyzed retrospectively.They were grouped and graded according to the vessel compression on the cranial nerves.The compression were grouped as none, moderate and severe, and the operation effects were graded as Ⅰ ( complete relief), Ⅱ ( partial relief) and Ⅲ ( no relief).The operation effects grades were correlated according to the compression groups by Kruskal-Wallis test and the operation effects between each two of the groups were compared using Nemenyi test.P < 0.05 was defined as statistic significant.Results Of the 53 cases of non-compression group, 31 cases were graded as Ⅰ , 13 cases were graded as Ⅱ and 9 cases were graded as Ⅲ, according to the operation-effects of the decompression.Of the 110 cases of moderate group,95 cases were grade as Ⅰ , 11 cases were graded as Ⅱ and 4 cases were graded as Ⅲ.Of the 60 cases of severe group, 48 cases were graded as Ⅰ, 7 cases were graded as Ⅱ and 5 cases were graded as Ⅲ.There were statistic significance among the three groups,where χ2= 16.84 and P <0.05.The mean rank of the non-compression, the moderate and the severe group was 134.21,102.37 and 110.4 ,respectively.The difference of the mean ranks between the non-compression group and the moderate group was 31.84, and between the non-compression and the severe group was 24.17, respectively, where P < 0.05 both.Conclusions There was close relationship between the findings on magnetic resonance tomographic angiography and the operation effects of the MVD.The operation effects of patients with moderate and severe vessel compression were much better than the non-compression group.MRTA is helpful for MVD surgical indication and its prognosis.     

理性情绪疗法对冠状动脉介入治疗病人焦虑情绪的影响

随着生命科学的发展及医学模式的转化,人类对健康与疾病的认识也已经提升到一个新的水平.医务工作者开始关注病人的心理健康问题.研究表明:焦虑是临床上常见的心理障碍,人群患病率为1.48%[1].焦虑是指人们对即将来临的,可能会给自己造成危险的重大事件,或需要自己做出极大努力去应对的某种情况时,所产生的一种紧张与不愉快的情绪反应[2].随着人们生活方式的改变,我国冠心病的发病率呈快速上升趋势,并且发病年龄呈现年轻化趋势,严重危害着人们的身体健康[3].流行病学调查表明[4]:住院冠心病病人焦虑的发生率为80%.尽管一定程度的焦虑有利于个体人格的发展,但是严重的焦虑会引起人认知能力的下降.同时焦虑情绪还会给病人带来一系列的躯体症状,并与本身疾病症状相互作用,严重影响病人的生存质量.冠心病病人在接受介入治疗除疼痛外,可体验紧张、烦躁、害怕等,从而引起焦虑[5].本研究从2006年12月起,采用理性情绪疗法对冠心病心绞痛接受介入治疗病人进行心理干预,分析干预前后病人焦虑情绪的变化,并为临床心理干预提供新的方法.     

山东省直管单位放射工作人员个人剂量监测结果分析

目的 为了解山东省直管单位不同放射工种工作人员的外照射个人剂量水平。方法 采用热释光剂量方法监测。结果 人均年剂量当量为0.55 mSv。两年中年剂量当量<5 mSv的人员分别占各年度监测总人数的98.27%和99.16%,仅1人年受照射剂量超过15 mSv。结论 省直管单位各工种的剂量水平普遍低于全省平均水平,并且不同工种之间的剂量水平也没有明显差异。