氯氮平的基因遗传多态性研究进展

氯氮平是非典型抗精神分裂的代表药物,在治疗精神分裂疾病中起到重要作用,临床实践发现,不同个体对氯氮平的反应有较大差异,研究表明,遗传因素是导致氯氮平疗效产生个体差异的重要原因之一。本文就氯氮平的基因遗传多态性研究进展进行综述。     

抗血小板药物的遗传药理学研究进展

目前心脑血管疾病是导致人类死亡的主要病因,血小板的激活和聚集在其形成过程中起到核心作用。大量临床实践发现,不同个体对抗血小板药物的反应有着较大差异,有的患者甚至出现对这些药物产生抵抗的现象。研究表明,遗传因素是导致抗血小板药物疗效产生个体差异的重要原因之一。该综述概述了国内外对抗血小板药物在遗传药理学方面的最新研究进展。     

胆囊十二指肠瘘致胆石性肠梗阻治疗分析

胆囊十二指肠瘘是胆囊结石等慢性胆囊疾病发发展进程中的比较少见的一种并发症,患者往往无典型特异性症状或者仅有消化系统症状,而胆石性肠梗阻也是胆囊结石一种少见的并发症[1],胆道与肠道之间存在异常通道为其病理基础,其中胆囊十二指肠瘘最常见,临床上表现较复杂,易误诊漏诊.本研究对32例胆石性肠梗阻患者进行回顾性分析,以探讨其有效的诊治方法,现报告如下.     

类风湿性关节炎病因学概述

类风湿性关节炎（rheumatoid arthritis,RA）是一种常见的慢性、全身性自身免疫疾病,病因复杂多样,就目前所知,归纳起来有遗传因素、微生物感染、激素刺激、吸烟、饮食、寒冷等。其中,遗传因素决定了人体对于疾病的易感性,而微生物感染被认为是类风湿性关节炎的始动阶段。因至今类风湿性关节炎仍无有效治疗方法,对其病因学研究的深入有望为类风湿性关节炎治疗开辟新的前景。     

胆囊癌发病相关危险因素的研究进展

胆囊癌是临床上最常见的胆道系统恶性肿瘤,具有起病隐匿、恶性程度高的特点,多数患者确诊时已经发展为肿瘤晚期.早期识别胆囊癌发病的危险因素,积极干预处理,是提高胆囊癌早期诊断率和改善预后的关键.目前,胆囊癌发病相关的危险因素包括胆囊结石、胆囊息肉、原发性硬化性胆管炎等.该文回顾了胆囊癌发病危险因素的相关最新研究,为预防和早...     

神经调控技术在脑科学研究中的应用研究进展

通过药物和物理刺激（如光、电、磁、超声）的方法可实现对脑神经元功能的操控。其中,化学遗传和光遗传技术由于可精确操控目标脑区特定类型的神经元,在脑环路功能研究中应用最为广泛。近年来开发的磁遗传技术可在磁场条件下利用磁感应元件激活神经元,实现了对大脑特定脑区神经元的非侵入且瞬时的调控。本文主要对脑科学研究中最常用的化学遗传和光遗传技术的发展进程和存在问题,以及正处于探索阶段的磁遗传技术的最新进展进行综述,同时也讨论了经颅电刺激、经颅磁刺激、深部脑刺激和经颅超声刺激技术在脑疾病的治疗中发挥的作用。期望通过不断的调整和改善,这些技术能更好地应用于脑科学研究和脑疾病治疗。     

如何早期发现老年黄斑变性

老年黄斑变性是身体自然老化过程中发生的疾病,与抽烟、喝酒、心血管疾病以及体内缺乏某些维生素和微量元素等有关,如维生素C、E和微量元素锌等;遗传因素也起到一定作用。     

糖尿病肾病遗传易感性的研究进展

糖尿病肾病(diabetic nephropathy,DN)是糖尿病最严重的微血管并发症之一,预防和控制DN的患病率和死亡率是一项巨大挑战。无论是1型或2型糖尿病,DN的发生都是遗传和环境因素交互作用的结果,而其中遗传因素起到较为重要作用。很多项研究结果已经证实DN易感基因广泛存在,遗传易感性是DN发生的重要因素,不同基因中单核苷酸多态性是导致DN遗传易感性的主要原因,如ACE、IL、TNF-α、COL4A1、eNOS、SOD2、APOE、GLUT等,其易感位点等位基因的突变,将会使DN发病风险增加数倍。作为生物学标志物,对这些变异基因进行检测,有助于DN的预防、诊断及治疗。故就DN遗传学变异方面的研究进展进行分析与评述。     

小儿先天性心脏病遗传因素探讨

小儿先天性心脏病是由于胎儿时期心脏及大血管发育异常,或者胎儿时期血液循环特有的孔道在生后未闭而形成的先天性畸形,是小儿最常见的心脏病。近10年来,我国对本病的遗传病因的报道显著增加。我院在病残儿医学鉴定中发现4例先天性心脏病患儿,其中2例均有明显的遗传病家族史。现报道如下,并对其遗传因素加以讨论。     

胆囊多发结石并发急性胆源性胰腺炎的超声诊断

<正>急性胰腺炎是常见的急腹症之一,水肿性胰腺炎病情轻,预后好,出血坏死性胰腺炎病情险恶,若未即时诊断及治疗,继发感染,休克等,病死率高。急性胰腺炎的病因很多,但多以胆道疾病为主,尤以胆囊结石合并急性胆囊炎最为常见。超声是诊断胆道疾病的首选检查方法。以往胆囊结石合并急性胆囊炎的病例及急性胰腺炎的病例报道较多,但其相关性的报道较少见。本文通过对46例     

Lipid lowering drugs and gallstones: a therapeutic option?

Cholelithiasis is a common disease worldwide. The majority of gallstones can occur when the bile is supersaturated with cholesterol. Dyslipidaemia, obesity, insulin resistance are associated with an increased risk for cholesterol gallstone formation as well as with vascular risk. Statins and ezetimibe are used to treat dyslipidaemia and appear to have some effect on bile composition and cholesterol gallstone formation. Statin (e.g. pravastatin, simvastatin, fluvastatin and lovastatin) monotherapy or combined with ursodeoxycholic acid (UDCA) have shown reductions in bile cholesterol saturation, preventing gallstone formation and even dissolving pre-existing stones. However, this effect was not consistently reported in all studies. Statin use has also been associated with a reduced risk for cholecystectomy in 2 large epidemiological studies. Ezetimibe was shown to have a beneficial action against cholelithiasis in animal studies but data in humans - although promising - are very limited. The effect of these drugs on gallstone disease warrants further investigation in large human trials. We also consider the links between cholelithiasis, vascular risk and the use of lipid lowering drugs.     

The genetic background of cholesterol gallstone formation: an inventory of human lithogenic genes

Family and twin studies as well as animal studies indicate that gallstone disease is, in part, genetically determined. Recently new single gene defects have been identified in specific patients with cholesterol and pigment gallstones. Examples include low phospholipid-associated cholelithiasis due to mutations of the gene encoding the hepatocanalicular phosphatidylcholine transporter, and pigment stones in association with mutations of the ileal bile salt transporter gene. Here we summarize the evidence for common genetic determinants of human gallstone disease in general and provide an inventory of human lithogenic genes. The precise understanding of such genes and their molecular mechanisms will establish new targets for rational drugdesign for this exceptionally prevalent and economically significant digestive disease.     

肠道菌群与川崎病

川崎病(KD)是一种儿童急性发热性全身性中、小动脉炎,是儿童获得性心脏病最常见的原因,其主要特征为免疫紊乱和全身性血管炎.以婴幼儿多见,其病因及发病机制不明,与感染、遗传及环境因素相关.近年来研究表明,KD病人存在肠道菌群紊乱,导致了肠道屏障功能破坏和自身免疫激活.作者对KD的肠道菌群研究做一综述,探讨菌群干预作为KD...     

Effects of leptin on biliary lipids: potential consequences for gallstone formation and therapy in obesity

Gallstone disease is exceptionally common, occurring especially in Western populations, with cholesterol gallstones predominating. Currently, it is believed that obesity is the most consistent and important risk factor for the development of cholesterol gallstones. Obesity has been shown to be associated with the supersaturation of bile with cholesterol because of increased hepatic secretion of the sterol. In accord with current information from experimental studies, leptin appears to be involved in biliary cholesterol secretion and cholesterol gallstone formation in humans. This review summarizes the current information on the role of obesity in biliary lipid secretion as well as the effect of leptin and its potential consequences for gallstone formation and therapy in the obese.     

Emerging drugs for chronic constipation

Chronic constipation (CC) is one of the most common functional gastrointestinal disorders. CC is estimated to affect up to 27% of the North American population. Although not life-threatening, CC can have profoundly negatively affects on quality of life and result in significant economic burden in terms of both direct and indirect healthcare costs. Possible etiologies for CC include alterations in gastrointestinal motility and secretion. Research efforts in CC have begun to identify multifactorial and often overlapping etiologies including abnormalities in myenteric neurons, alterations in neurotransmitters and their receptors, and incoordination of the muscles of the pelvic floor or anorectum. CC may be influenced by genetic predisposition, environmental factors and stress. In this article, the safety and efficacy of traditional and emerging therapies for CC are examined.     

Limits and perspective of oral therapy with statins and aspirin for the prevention of symptomatic cholesterol gallstone disease

The prevalence of gallstones disease in Western countries is 10 – 15%. Gallstones can be one of two types – cholesterol or pigment – with cholesterol gallstones representing nearly the 80% of the total. Cholesterol and pigment gallstones have different predisposing factors: cholesterol gallstones are related to supersaturated bile in cholesterol, whereas black pigment gallstones are related to hyperbilirubinbilia factors (hemolysis, etc.); these are necessary, but not sufficient, factors to produce gallstones in vivo. Gall bladder mucosa factors (gall bladder secretion of mucin, local bile stasis and production of endogenous biliary β-glucuronidase) may coexist with the aforementioned factors and facilitate gallstone nucleation and growth. The gold-standard treatment for symptomatic gallstones is laparoscopic cholecystectomy. Several studies have reported a significant reduction in the onset of symptomatic gallstones disease in patients undergoing chronic therapy with statins, which can reduce bile cholesterol saturation. Aspirin, which has been shown to reduce the local production of gall bladder mucins (mucosal or parietal factors of gallstone formation) in animal experimental models, does not appear to reduce the risk of symptomatic gallstones disease when tested alone. The new horizon of oral therapy for the prevention of symptomatic gallstone disease needs to evaluate the long-term effect of statins and chronic aspirin administration in patients with dyslipidemia and/or atherosclerosis.     

Genetics of ischemic stroke, stroke-related risk factors, stroke precursors and treatments

Stroke remains a leading cause of death worldwide and the first cause of disability in the western world. Ischemic stroke (IS) accounts for almost 80% of the total cases of strokes and is a complex and multifactorial disease caused by the combination of vascular risk factors, environment and genetic factors. Investigations of the genetics of atherosclerosis and IS has greatly enhanced our knowledge of this complex multifactorial disease. In this article we sought to review common single-gene disorders relevant to IS, summarize candidate gene and genome-wide studies aimed at discovering genetic stroke risk factors and subclinical phenotypes, and to briefly discuss pharmacogenetics related to stroke treatments. Genetics of IS is, in fact, one of the most promising research frontiers and genetic testing may be helpful for novel drug discoveries as well as for appropriate drug and dose selection for treatment of patients with cerebrovascular disease.     

Limits and perspective of oral therapy with statins and aspirin for the prevention of symptomatic cholesterol gallstone disease

The prevalence of gallstones disease in Western countries is 10 - 15%. Gallstones can be one of two types - cholesterol or pigment - with cholesterol gallstones representing nearly the 80% of the total. Cholesterol and pigment gallstones have different predisposing factors: cholesterol gallstones are related to supersaturated bile in cholesterol, whereas black pigment gallstones are related to hyperbilirubinbilia factors (hemolysis, etc.); these are necessary, but not sufficient, factors to produce gallstones in vivo. Gall bladder mucosa factors (gall bladder secretion of mucin, local bile stasis and production of endogenous biliary β-glucuronidase) may coexist with the aforementioned factors and facilitate gallstone nucleation and growth. The gold-standard treatment for symptomatic gallstones is laparoscopic cholecystectomy. Several studies have reported a significant reduction in the onset of symptomatic gallstones disease in patients undergoing chronic therapy with statins, which can reduce bile cholesterol saturation. Aspirin, which has been shown to reduce the local production of gall bladder mucins (mucosal or parietal factors of gallstone formation) in animal experimental models, does not appear to reduce the risk of symptomatic gallstones disease when tested alone. The new horizon of oral therapy for the prevention of symptomatic gallstone disease needs to evaluate the long-term effect of statins and chronic aspirin administration in patients with dyslipidemia and/or atherosclerosis.     

Review article: therapeutic roles of acupuncture in functional gastrointestinal disorders

Acupuncture has been practiced empirically in China for several millennia, and is being increasingly accepted by practitioners and patients worldwide. Functional gastrointestinal disorders are common in clinical gastroenterology. The prevalence of one or more functional gastrointestinal disorders is estimated to be as high as 70% in general population using Rome diagnostic criteria. Since functional gastrointestinal disorders are diagnosed based on symptoms and the exact aetiologies for most of functional gastrointestinal disorders are not completely known, it is not unusual that the treatment for these disorders is unsatisfactory and alternative therapies are attractive to both patients and practitioners. During the latest decades, a considerable number of studies have been performed on acupuncture for the treatment of functional gastrointestinal disorders and underlying mechanisms. In this article, we reviewed available data in the literature on the applications and mechanisms of acupuncture for the treatment of functional gastrointestinal disorders, including functional oesophageal disorders, nausea and vomiting, functional dyspepsia, irritable bowel syndrome, constipation, etc. A summary is provided based on the quality and quantity of published studies regarding the efficacy of acupuncture in treating these various disorders. In addition, the methodology of acupuncture is also introduced.     

Review article: The eosinophil as a therapeutic target in gastrointestinal disease

Elevated levels of eosinophils in the gastrointestinal tract is a common feature of numerous gastrointestinal disorders including food allergy, parasitic infections, gastro-oesophageal reflux, eosinophilic oesophagitis, eosinophilic gastroenteritis, allergic colitis and inflammatory bowel diseases. Recently, clinical and experimental studies have provided evidence that eosinophils have a critical role in the pathophysiology of eosinophil-associated gastrointestinal disease. Collectively, these studies have provided relevant insight into identifying key targets for therapeutic intervention. The present review describes recent experimental investigations on the role of eosinophils in the clinical manifestations of eosinophil-associated gastrointestinal disease and discusses future therapeutic approaches for the treatment of disease.