脂蛋白脂酶基因多态性与脑梗死

脂蛋白脂酶(LPL)基因多态性与动脉粥样硬化性疾病或卒中的关系成为近年来的研究热点。LPL基因突变较为多见,其中限制性片段长度多态性(RFLP),如HindⅢ、PvuⅡ基因多态性;单链构象多态性(SSCP),如D9N、N291S、Ser447X多态性等的研究较多。基因型在不同种族和不同地区的分布存在差异。这些基因多态性与血脂异常、动脉粥样硬化和脑血管疾病之间存在一定的关系。     

脂蛋白脂酶基因多态性与脑梗死

脂蛋白脂酶(LPL)基因多态性与动脉粥样硬化性疾病或卒中的关系成为近年来的研究热点。LPL基因突变较为多见，其中限制性片段长度多态性(RFLP)，如HindⅡ、PvuⅡ基因多态性；单链构象多态性(SSCP)，如DgN、N29lS、Ser447X多态性等的研究较多。基因型在不同种族和不同地区的分布存在差异。这些基因多态性与血脂异常、动脉粥样硬化和脑血管疾病之间存在一定的关系。     

脂蛋白脂酶基因HindⅢ多态性与冠心病相关性的meta分析

目的对中国汉族人脂蛋白脂酶（LPL）基因HindⅢ多态性H＋H＋基因型与中国人群冠心病的相关性进行meta分析。方法制定文献的纳入标准,检索中国期刊全文数据库、万方数据库、维普信息数据库、PubMed及中国学术期刊博硕士学位论文全文数据库等关于LPL基因HindⅢ多态性与冠心病相关性的原始研究,评价纳入文献质量,进行meta分析。结果7项研究被纳入meta分析,其中冠心病患者1184例,对照组1004例。按Peto固定效应模型合并后,LPL基因的HindⅢ多态性H＋H＋基因型／（H＋H-／H-H＋）基因型的OR值为1．22,95％CI为1．02—1．46,P=0．03。结论LPL基因HindⅢ多态性可能与中国汉族人群冠心病发病有关。     

脂蛋白脂酶基因多态性与动脉粥样硬化

脂蛋白脂酶(lipoprotein lipase,LPL)是富含三酰甘油的脂蛋白的三酰甘油核心水解的限速酶,其不仅会影响脂蛋白水平,还在动脉粥样硬化的形成和发展中起着重要作用.LPL基因多态性会影响酶活性,从而具有促动脉粥样硬化或抗动脉粥样硬化的作用.文章对LPL基因多态性与动脉粥样硬化的关系进行了综述.     

脂蛋白脂酶基因多态性与缺血性脑卒中的相关性研究

目的 探讨脂蛋白脂酶(LPL)基因多态性与缺血性脑卒中发病的相关性.方法 选择600例缺血性脑卒中患者和419例对照组人群.以位于LPL基因的PLR-rs326位点为遗传标记,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法,检测LPL基因的多态性.结果 病例组GG基因型频率明显高于对照组(P<0.05);动脉粥样硬化性脑梗死组G变异等位基因频率与对照组相比差异显著.结论 LPL rs326位点基因多态性与缺血性脑卒中的发病相关.     

郑州地区汉族糖尿病合并冠心病患者脂蛋白脂酶多态性

目的探讨脂蛋白脂酶(LPL)在2型糖尿病和糖尿病合并冠心病发病中的作用机制。方法测定糖尿病和糖尿病合并冠心病患者外周血白细胞LPL内含子6的PvuⅡ和内含子8的HindⅢ多态性,以及血清中甘油三酯(TG)、胆固醇(TC)、高密度脂蛋白胆固醇(HDL-c)等的水平。结果糖尿病及糖尿病合并冠心病患者外周血LPL基因PvuⅡ和HindⅢ的等位基因P、H频率与对照组相比较无显著性差异。糖尿病和糖尿病合并冠心病患者LPL基因PvuⅡ多态性中的P ／P 基因型患者的TG、TC和LDL-c水平高于非P ／P 患者和对照组,HDL—c水平低于非P ／P 患者和对照组。结论LPL基因PvuⅡ突变位点与糖尿病合并冠心病患者体内脂质代谢紊乱有关,可通过了解LPL基因多态性以了解糖尿病和糖尿病合并冠心病脂质代谢紊乱的状况。     

LPL基因旁侧区域内多态性与高血压病或血压数量性状的连锁分析

目的　绝大多数高血压病患者都伴有血脂代谢异常 ,而且高血压在具有家族性混合型高脂血症的家庭中发生频率更高。由此认为 ,血压调节和血脂代谢可能存在共同的遗传基础。本研究旨在探讨脂蛋白脂酶 (LPL)基因是否为国人高血压病发生的易感基因。方法　筛选了 1 4 8个高血压病家系 ,使用ABITM377测序仪 ,结合GENESCAN技术对LPL基因旁侧区域内 7个多态性进行基因型检测。使用S .A .G .E/SIBPAL2和SOLAR程序完成血压质量和数量性状的弱参数连锁分析 ,使用TDT/STDT进行连锁不平衡分析。所有分析均对年龄、性别和体重指数进行了校正。结果　 (1 )使用SOLAR程序 ,连锁分析提示D8S2 6 1与收缩压连锁 (LOD =2 5 2 )。使用LOD值拟合分析 (1 00 0 0次 ) ,进一步证实D8S2 6 1与收缩压连锁 (P =0 0 0 0 1 )。 (2 )使用S .A G E/SIBPAL2程序观察到D8S1 1 4 5 (P =0 0 0 97)、D8S5 1 1 (P =0 0 0 36 )和D8S5 6 0 (P =0 0 1 1 5 )与高血压连锁 ;D8S2 6 1和NEFL分别与收缩压和舒张压均连锁。 (3)TDT/STDT分析提示D8S2 6 1的第三等位基因与高血压存在连锁不平衡 (χ2 =8 6 4 3,P <0 0 1 ;Z′ =2 4 0 8,P <0 0 5 ) ,Bonferroni校正值Z′ =3 5 1 7,P <0 0 1。结论LPL基因旁侧区域内的某些基因或LPL基因本身可能参与     

单纯性肥胖患者脂蛋白脂酶基因多态性

目的 探讨脂蛋白脂酶(LPL)基因HindⅢ多态性与单纯性肥胖患者体脂分布、脂质代谢的关系。方法 采用PCR-RFLP对98例单纯性肥胖患者和51名正常对照组LPL基因第8内含子HindⅢ酶切位点进行多态性分析,并测定体脂分布指标与血脂水平。结果LPL HindⅢ位点在两组中均以H+等位基因为主。两组等位基因频率及基因型差异均无显著性,但肥胖组H+H+基因型者血浆甘油三酯水平明显增高、高密度脂蛋白胆固醇明显降低(P均<0.05),腰围、腹腔内脏脂肪面积也显著高于非H+H+基因型者(P<0.05)。结论LPL HindⅢ基因多态性对肥胖患者的血脂水平及脂肪分布有影响。具有HindⅢ酶切位点的H+等位基因可能是单纯性肥胖患者出现腹型肥胖和脂代谢紊乱的遗传易感因素之一。     

心房颤动患者KCNQ1、KCNE1和KCNE4基因单核苷酸多态性研究

目的心房颤动（房颤）与缓慢型延迟整流钾离子流（IKa）密切相关,该研究探讨房颤与IKa相关基因KCNQ1、KCNE1及KCNE4单核苷酸多态性（SNP）的相关性。方法采用关联分析,入选汉族对象,房颤病例142例,社区对照120例,病区对照118例。选择亚洲人群特异的非同义SNPKCNQ1 P448R、KCNQ1 R519H、KCNQ1 G643S、KCNE1 G38S及KCNE1 D85N,对KCNFA基因进行测序,以发现可能存在的SNP。采用限制性内切酶片段长度多态性法确定基因型。结果KCNQ1 P448R、KCNQ1 R519H、KCNQ1 G643S、KCNE1 G38S及KCNE1 D85N在汉族社区人群中的频率（少见等位基因频率）分别为0．079、0、0．042、0．317、0．004,未证实这些SNP与房颤相关。在KCNE4基因中发现E145D多态,在汉族社区人群中频率高达0．271,logistic回归分析与房颤显著相关（OR=1．66,P=0．044）。结论KCNQ1 P448R、KCNQ1 R519H、KCNQ1 G643S、KCNE1 G38S及KCNE1 D85N多态性与房颤无关,KCNF4 E145D与房颤有关,其对IKa的功能影响值得进一步研究。     

脂蛋白脂肪酶与糖尿病

脂蛋白脂肪酶(LPL)是甘油三酯(TC)水解的限速酶,其基因缺失和基因多态性与糖、脂代谢紊乱的发生、发展密切相关.LPL功能紊乱可引起胰岛素抵抗甚至糖尿病,其可能机制包括:脂质异位沉积与胰岛素信号转导通路受损、内质网应激、氧化应激、炎性反应.明确LPL在糖尿病发生、发展中的作用,为防治糖尿病提供了新的思路.     

鞍钢职工心脑血管疾病现状与发病趋势

目的分析鞍钢职工大样本人群心脑血管疾病的发病率及易患因素分布情况。方法通过对鞍钢集团95 912例职工的心脑血管疾病既往史、吸烟、血压、糖尿病、血清总胆固醇、高密度脂蛋白、体重指数、总胆固醇与高密度脂蛋白胆固醇的比值等数据的分析,前瞻性分析受检人群心脑血管疾病发病的危险分层。结果冠心病1 910例(2.00%),脑血管病607例(0.63%),吸烟19 453例(20.28%),糖尿病788例(0.82%),高血压31 698例(33.05%),高脂血症8 347例(8.70%),体重超重55 462例(57.83%),总胆固醇(TC)/高密度脂蛋白胆固醇(HDL-C)≥3.5的10 487例(10.93%);缺血性心血管病发病概率多分布于极低危(68.14%)和低危(5.75%),中危(0.865%)占很小的比例,颈动脉粥样硬化斑块发生概率多分布于高危(44.23%)、中危(23.21%)和极高危(10.51%),无低危和极低危。结论目前鞍钢职工的健康状况不容乐观,应进一步加大健康知识宣教力度。     

Celiac Disease: A Disorder Emerging from Antiquity,Its Evolving Classification and Risk,and Potential New Treatment Paradigms

Celiac disease is a chronic genetically based gluten-sensitive immune-mediated enteropathic process primarily affecting the small intestinal mucosa. The disorder classically presents with diarrhea and weight loss; however, more recently, it has been characterized by subclinical occult or latent disease associated with few or no intestinal symptoms. Diagnosis depends on the detection of typical histopathological biopsy changes followed by a gluten-free diet response. A broad range of clinical disorders may mimic celiac disease, along with a wide range of drugs and other therapeutic agents. Recent and intriguing archeological data, largely from the Gobleki Tepe region of the Fertile Crescent, indicate that celiac disease probably emerged as humans transitioned from hunter-gatherer groups to societies dependent on agriculture to secure a stable food supply. Longitudinal studies performed over several decades have suggested that changes in the prevalence of the disease, even apparent epidemic disease, may be due to superimposed or novel environmental factors that may precipitate its appearance. Recent therapeutic approaches are being explored that may supplement, rather than replace, gluten-free diet therapy and permit more nutritional options for future management.     

幽门螺杆菌与心脑血管疾病

幽门螺杆菌是重要的胃肠道细菌。近年来发现,其与包括心脑血管疾病在内诸多胃肠外疾病的发生发展有关,成为新的研究热点。本文就幽门螺杆菌与心血管疾病的近期研究作一综述。     

结缔组织病与甲状腺疾病的相关性

目的探讨常见结缔组织病(connective tissue disease,CTD)与甲状腺疾病的相关性。方法以济宁医学院附属医院2009年1月至2013年4月住院并接受甲状腺功能筛查CTD患者为研究对象,以普通人群为对照,比较CTD患者与普通人群甲状腺疾病的患病率,同时比较不同甲状腺疾病在不同CTD中的患病率。结果 CTD患者780例,包括类风湿关节炎438例(56.2%)、系统性红斑狼疮195例(25.0%)、原发性干燥综合征85例(10.9%)、混合结缔组织病44例(5.6%)、系统性硬化症(SSc)18例(2.3%),其中合并甲状腺疾病286例(36.7%),与普通人群比较(8.7%)明显升高(P0.05)。合并甲状腺疾病的CTD患者,发生率依次为混合结缔组织病61.4%、原发性干燥综合征54.1%、系统性红斑狼疮51.3%、系统性硬化症27.8%、类风湿关节炎24.7%;混合结缔组织病、原发性干燥综合征、系统性红斑狼疮发生率与类风湿关节炎比较,差异有统计学意义(P0.05)。CTD患者合并甲状腺疾病构成比依次为甲状腺功能减退29.4%、甲状腺功能亢进6.3%、桥本甲状腺炎18.5%、低T3综合征26.6%、结节性甲状腺肿18.8%、甲状腺肿瘤0.4%。结论 CTD合并甲状腺疾病发生率较高,应重视两种疾病的相互筛查。     

Impacts of biodiversity and biodiversity loss on zoonotic diseases

Zoonotic diseases are infectious diseases of humans caused by pathogens that are shared between humans and other vertebrate animals. Previously, pristine natural areas with high biodiversity were seen as likely sources of new zoonotic pathogens, suggesting that biodiversity could have negative impacts on human health. At the same time, biodiversity has been recognized as potentially benefiting human health by reducing the transmission of some pathogens that have already established themselves in human populations. These apparently opposing effects of biodiversity in human health may now be reconcilable. Recent research demonstrates that some taxa are much more likely to be zoonotic hosts than others are, and that these animals often proliferate in human-dominated landscapes, increasing the likelihood of spillover. In less-disturbed areas, however, these zoonotic reservoir hosts are less abundant and nonreservoirs predominate. Thus, biodiversity loss appears to increase the risk of human exposure to both new and established zoonotic pathogens. This new synthesis of the effects of biodiversity on zoonotic diseases presents an opportunity to articulate the next generation of research questions that can inform management and policy. Future studies should focus on collecting and analyzing data on the diversity, abundance, and capacity to transmit of the taxa that actually share zoonotic pathogens with us. To predict and prevent future epidemics, researchers should also focus on how these metrics change in response to human impacts on the environment, and how human behaviors can mitigate these effects. Restoration of biodiversity is an important frontier in the management of zoonotic disease risk.     

Canadian Digestive Health Foundation Public Impact Series 4: celiac disease in Canada. Incidence, prevalence, and direct and indirect economic impact

The Canadian Digestive Health Foundation initiated a scientific program to assess the incidence, prevalence, mortality and economic impact of digestive disorders across Canada in 2009. The current article presents the updated findings from the study concerning celiac disease.     

Simultaneous operation of concomitant diseases in the esophagus and lung

The aim of this study was to retrospectively review our experience of performing simultaneous operations on concomitant diseases in the esophagus and lungs. From January 1998 to July 2009, simultaneous operations were performed on 13 patients with concomitant esophageal and pulmonary diseases, using coordinated surgical approaches. Among the 13 patients, six had primary cancers in the esophagus and lungs, five had primary esophageal cancer accompanied by a benign pulmonary disease, one had benign diseases in both esophagus and lung, and one had primary esophageal cancer with metastasis to the left lower lung. All patients survived the operations. Two major complications occurred postoperatively. One complication was bronchopleural fistula and the other was intrathoracic gastric laceration. Both patients recovered after additional treatments. Simultaneous operation of concomitant diseases in the esophagus and lungs is feasible and safe in selected patients who have received careful preoperative assessment, well‐designed surgical approach, and proper perioperative management.     

Tissue-engineered endothelial and epithelial implants differentially and synergistically regulate airway repair

The trilaminate vascular architecture provides biochemical regulation and mechanical integrity. Yet regulatory control can be regained after injury without recapitulating tertiary structure. Tissue-engineered (TE) endothelium controls repair even when placed in the perivascular space of injured vessels. It remains unclear from vascular repair studies whether endothelial implants recapitulate the vascular epithelial lining or expose injured tissues to endothelial cells (ECs) with unique healing potential because ECs line the vascular epithelium and the vasa vasorum. We examined this issue in a nonvascular tubular system, asking whether airway repair is controlled by bronchial epithelial cells (EPs) or by ECs of the perfusing bronchial vasculature. Localized bronchial denuding injury damaged epithelium, narrowed bronchial lumen, and led to mesenchymal cell hyperplasia, hypervascularity, and inflammatory cell infiltration. Peribronchial TE constructs embedded with EPs or ECs limited airway injury, although optimum repair was obtained when both cells were present in TE matrices. EC and EP expression of PGE(2), TGFbeta1, TGFbeta2, GM-CSF, IL-8, MCP-1, and soluble VCAM-1 and ICAM-1 was altered by matrix embedding, but expression was altered most significantly when both cells were present simultaneously. EPs may provide for functional control of organ injury and fibrous response, and ECs may provide for preservation of tissue perfusion and the epithelium in particular. Together the two cells optimize functional restoration and healing, suggesting that multiple cells of a tissue contribute to the differentiated biochemical function and repair of a tissue, but need not assume a fixed, ordered architectural relationship, as in intact tissues, to achieve these effects.     

Pseudoexfoliation syndrome and cardiovascular diseases

Pseudoexfoliation(PEX) syndrome is a well-recognized late-onset disease caused by a generalized fibrillopathy. It is linked to a broad spectrum of ocular complications including glaucoma and perioperative problems during cataract surgery. Apart from the long-known intraocular manifestations, PEX deposits have been found in a variety of extraocular locations and they appear to represent a systemic process associated with increased cardiovascular and cerebrovascular morbidity. However, as published results are inconsistent, the clinical significance of the extraocular PEX deposits remains controversial. Identification of PEX deposits in the heart and the vessel wall, epidemiologic studies, as well as, similarities in pathogenetic mechanisms have led to the hypothesis of a possible relation between fibrillar material and cardiovascular disease. Recent studies suggest that PEX syndrome is frequently linked to impaired heart and blood vessels function. Systemic and ocular blood flow changes, altered parasympathetic vascular control and baroreflex sensitivity, increased vascular resistance and decreased blood flow velocity, arterial endothelial dysfunction, high levels of plasma homocysteine and arterial hypertension have all been demonstrated in PEX subjects. Common features in the pathogenesis of both atherosclerosis and PEX, like oxidative stress and inflammation and a possible higher frequency of abdominal aorta aneurysm in PEX patients, could imply that these grey-white deposits and cardiovascular disorders are related or reflect different manifestations of the same process.     

我国多省市心血管病趋势及决定因素的人群监测(中国MONICA方案)Ⅰ.发病率和死亡率监测结果

为了解我国人群心血管病趋势及发病因素，北京心肺血管研究中心于１９８４年倡议组织了一项多省市心血管病人群监测协作研究，采用ＷＨＯＭＯＮＩＣＡ方案的方法和标准，总监测人口约５００万。经１９８５年～１９８６年２年试点后从１９８７年１月起正式开始收集研究资料，于１９９３年１２月底结束。主要结果如下：（１）我国人群冠心病事件发病率和死亡率低于国际平均水平。男性３５～６４岁年发病率最高为１０８．７／１０００００（１９８７～１９８９年），最低为３．３／１０００００，相差相当３２倍；（２）脑卒中事件年发病率和死亡率高于国际平均水平。男性３５～６４岁发病率最高为５５３．３／１０００００（１９８７年～１９８９年），最低为３３．０／１０００００，相差相当１６倍；（３）疾病率存在较显著的地区差异，北方省市普遍高于南方省市；（４）１９８７～１９９３年期间部分人群心血管病发病率和死亡率呈上升趋势，但多数无统计学显著性。