Ⅱ型遗传性出血性毛细血管扩张症血管生长发育相关蛋白质分析及意义

目的分析和检测1个Ⅱ型遗传性出血性毛细血管扩张症(HHT-2)家系成员血浆及外周血白细胞转化生长因子(TGF)-β1、TGF-β2、血管内皮生长因子(VFGF)、血小板源性生长因子受体α(PDGFRα)等蛋白质浓度,探讨这些血管生长发育相关蛋白在 HHT 发病机制中的变化及意义。方法根据鼻出血、毛细血管扩张及家族史进行 HHT 的临床诊断,并经基因筛查,以证实 HHT 的诊断。对该家系中5例新成员进行 HHT 的诊断和排除诊断。用 ELSA 方法检测该家系成员血浆 TGF-β1、TGF-β2及 VEGF 浓度;用流式细胞术结合直接按或间接免疫荧比技术分析该家系成员外周血白细胞TGF-β1、VEGF、及 PDGFRα蛋白表达。结果基因筛查的5例新家系成员 ALK1基因8号外显子不存在 C1231T 突变。该家系成员中3例 HHT 患者血浆 TGF-β1和 TGF-β2浓度分别为(16 954±3 709)ng/L和(11 548±2 611)ng/L;与正常对照相比差异无统计学意义(P>0.05);3例 HHT 患者、6名未受累家系成员、6名正常对照血浆 VEGF 浓度值分别为(179.2±22.0)μg/L,(149.8±22.7)μg/L,(132.9±21.0)μg/L;HHT 患告血浆 VEGF 浓度明显高于正常对照组(P<0.05)。HHT 家系成员外周血白细胞 PDGFRα和 VEGF 蛋白表达均上调(P 值均<0.05);TGF-β1蛋白表达与正常对照比较差异无统计学意义。结论 HHT-2患者血浆 TGF-β1浓度、单核细胞及粒细胞 TGF-β1蛋白表达与正常对照比较差异无统计学意义;而血浆 VEGF 浓度及外周血白细胞 VEGF 表达均明显高于正常对照;HHT-2患者外周血白细胞存在 PDGFRα高表达,提示存在血管生长发育相关蛋白的代偿机制。     

Myocardial infarction and antiphospholipid antibodies in SLE and related disorders

The clinical and serological findings in 13 patients with myocardial infarction and antiphospholipid antibodies (the 'lupus anticoagulant', antibodies to cardiolipin, antibodies to phosphatidylethanolamine (one patient] seen by our unit and other units from 1984 to 1989, are presented (eight males and five females, ages ranging from 20 to 52 years). Five suffered myocardial infarction before the age of 30; four of these five were in their early 20s. Other risk factors such as excessive smoking (greater than 20 cigarettes a day) (two patients), long-term treatment with steroid (one) and use of oral contraceptives (one) were present. One patient had demonstrated a plasminogen activator deficiency and one a deficiency of protein C. Two patients developed myocardial infarction six to eight weeks after warfarin was discontinued for recurrent deep vein thrombosis. Six patients had SLE as defined by the revised 1982 criteria, three suffered from 'lupus-like' disease, while four patients conformed to a 'primary' antiphospholipid syndrome.     

卵巢癌患者血清可溶性间皮素相关蛋白的检测及其意义

目的 评价血清可溶性间皮素相关蛋白（SMRP）对卵巢癌的诊断价值.方法 采用ELISA检测了63例卵巢癌患者、85例妇科良性疾病患者和51例健康对照个体血清SMRP水平.以受试者工作特征（ROC）曲线分析了SMRP对卵巢癌的诊断价值,并分析其与CA125联合使用是否有助于提高卵巢癌的诊断准确性.结果 卵巢癌患者血清SMRP水平显著高于妇科良性疾病患者和健康个体,且与患者的FIGO分期有关（P值均小于0.01）.CA125的ROC曲线下面积（AUC）与SMRP相近（CA125：SMRP＝0.81：0.77,P=0.45）.SMRP的最佳诊断界值为1.67 nmol/L,此时SMRP的诊断敏感性（95%可信区间）为0.82（0.73-0.90）,特异性（95%可信区间）为0.66（0.54-0.78）.采用系列诊断实验联合CA125与SMRP时,其联合诊断敏感性为0.67,特异性为0.96;采用平行诊断实验联合CA125与SMRP时,其联合诊断敏感性为0.97,特异性为0.48.结论 SMRP对卵巢癌的诊断以及分期具有一定的价值,联合使用CA125与SMRP更有助于提高卵巢癌的诊断准确性.     

Deficiency of dystrophin-associated proteins in Duchenne muscular dystrophy patients lacking COOH-terminal domains of dystrophin.

Dystrophin, the protein product of the Duchenne muscular dystrophy (DMD) gene, is a cytoskeletal protein tightly associated with a large oligomeric complex of sarcolemmal glycoproteins including dystroglycan, which provides a linkage to the extracellular matrix component, laminin. In DMD, the absence of dystrophin leads to a drastic reduction in all of the dystrophin-associated proteins, causing the disruption of the linkage between the subsarcolemmal cytoskeleton and the extracellular matrix which, in turn, may render muscle cells susceptible to necrosis. The COOH-terminal domains (cysteine-rich and carboxyl-terminal) of dystrophin have been suggested to interact with the sarcolemmal glycoprotein complex. However, truncated dystrophin lacking these domains was reported to be localized to the sarcolemma in four DMD patients recently. Here we report that all of the dystrophin-associated proteins are drastically reduced in the sarcolemma of three DMD patients in whom dystrophin lacking the COOH-terminal domains was properly localized to the sarcolemma. Our results indicate that the COOH-terminal domains of dystrophin are required for the proper interaction of dystrophin with the dystrophin-associated proteins and also support our hypothesis that the loss of the dystrophin-associated proteins in the sarcolemma leads to severe muscular dystrophy even when truncated dystrophin is present in the subsarcolemmal cytoskeleton.     

脑卒中后抑郁的发生率及其相关因素

目的:探讨脑卒中患者抑郁的发生率,抑郁与病灶部位、认知功能、日常生活能力、神经功能缺损程度之间的相关性及脑卒中后早期抑郁的发病情况、危险因素。方法:运用问卷调查的方法评估70例脑梗死患者抑郁状态及认知功能状态,并根据临床体检结果判定日常生活活动(ADL)能力及神经功能缺损程度,分组统计抑郁发生率。结果:脑卒中后早期抑郁的发病率为31%(22/70);有认知功能障碍的患者发生抑郁的比例[47%(7/15)]明显高于非认知功能障碍的患者[27%(15/55)];ADL能力差的患者发生抑郁的比例[37%(18/49)]明显高于ADL独立的患者[19%(4/21)](χ2=3.9338,P<0.05)。结论:脑卒中后早期即存在较普遍的抑郁情绪,抑郁与认知功能、日常生活能力及神经功能缺损程度之间存在显著相关性。     

正常成年人心肌各节段运动速度及其影响因素分析

目的 探讨正常成年人不同节段心肌运动速度的变化规律并分析其相关影响因素。方法 应用心肌组织速度成像技术观察108例正常成年人左、右心室不同室壁各节段心肌收缩期峰值速度(Vs)、舒张早期峰值速度(Ve)、心房收缩期峰值速度(Va)和Ve／Va，并分析其变化规律以及年龄、性别、体表面积和心率对其的影响。结果 ①不同室壁心肌运动速度不同，右室侧壁最高，前、后间隔最低，而左室侧壁、下壁、前壁和后壁则介于二者之间；②同一室壁不同节段心肌运动速度显著不同，由基底段、中段至心尖段运动速度逐渐减低；③各节段心肌Ve／Va值由基底段至心尖段逐渐增加，左室侧壁和前壁Ve／Va值显著高于其他室壁；④年龄是影响室壁舒张期速度的主要因素，随着年龄增长，Ve逐渐减低，Va逐渐增加，而Ve／Va值逐渐减低。结论 左、右室不同心肌节段运动速度呈规律性变化，年龄对心肌舒张速度影响显著。     

铁代谢调节及其相关疾病

铁原子在氧化还原反应中能够转运电子,因此对许多生理过程必不可少.过去20年,遗传性铁过载、铁缺乏、铁分布异常致病基因的发现,以及对铁稳态相关调节机制的进一步研究,使我们对人类机体内铁稳态的认识更为深刻.现结合相关文献,就铁代谢、铁稳态调节机制及其相关疾病的研究进展进行综述.     

癌症相关性创伤后应激障碍及其相关因素分析

目的探讨癌症患者的创伤后应激障碍(PTSD)发生情况及其相关因素。方法采用PTSD症状清单,心境和焦虑症状问卷对175名癌症患者进行调查。结果本组癌症相关性PTSD检出率为39.4%,PTSD总分中位数(四分位区间数)为11(6~20);回归分析发现家庭月收入、癌症类型以及一般痛苦心境是癌症相关性PTSD各类症状的危险因素。结论癌症相关性PTSD在癌症人群中高发,可能存在PTSD亚型。医护人员应该高度重视,采取适当的措施早发现,早干预。     

急性心肌梗死溶栓治疗前时间延误分析及护理对策

分析了６８例急性心机梗死患者静脉溶栓治疗前的时间延误，调查５０名护士对急性心肌梗死治疗的认识程度，探讨溶栓治疗前延误的护理因素。结果显示，溶栓治疗院外延误２０ｈ，院内延误３１ｈ，显著长于院外延误（Ｐ＜０．０１）。其中急诊室延误１７ｈ，ＣＣＵ延误１４ｈ；随着溶栓时间延误的延长，冠脉再通率下降；急诊科护士对溶栓治疗适应证、禁忌证等认识程度低于心血管内科护士；护士在急性心肌梗死治疗中缺少主动性。认为护士能够缩短溶栓前院内延误。提出对全体护士应加强急性心肌梗死溶栓治疗的教育和培养训练，使其认识到缩短溶栓治疗前时间的意义，提高护士的主观能动性     

Myocardial sestamibi uptake in healthy subjects is related to age,gender and habitus

The object of this study was to evaluate the effect of gender, age and anthropometric data on regional isotope uptake in myocardial perfusion scintigraphy using ^99mTc-MIBI-SPECT (myocardial sestamibi single-photon emission technique). Seventy-one healthy, non-smoking subjects, 42 men and 29 women between 40 and 80 years of age, with less than 5% likelihood of having coronary artery disease were studied. All subjects underwent a maximal exercise and rest MIBI-SPECT using a 2-day protocol and a 180° anterior circular rotation. No correction for scatter or attenuation was made. Normalized regional activity was different in men and women in the anterior and inferior regions, with higher values anteriorly in men and inferiorly in women. Regional activity also differed with age in both women and men with higher relative activity in the anterior regions in the oldest age groups. Higher activities were seen in the basal parts of the left ventricle at rest compared with stress in both men and women. Regional isotope uptake was significantly affected by habitus expressed as body mass index (BMI) and thoracic circumference. Different protocols for stress and rest seem to be needed for men and women in different age groups, and for stress and rest when performing semiquantitative MIBI-SPECT and comparing data with a normal file of healthy subjects. Furthermore, such anthropometric data as BMI and/or thoracic circumference should be considered in order to minimize the risk for false-positive or false-negative scintigraphic results.