RBP4、雄激素与多囊卵巢综合征的相关性分析

多囊卵巢综合征（PCOS）是一种发病多因性,临床表现多态性的内分泌综合征,以雄激素过多和持续无排卵为主要特征,是导致生育期妇女月经紊乱最常见的原因之一。PCOS发病机制至今尚未阐明,但近年有研究认为高雄激素血症与高胰岛素血症相关。     

IgA肾病发病机制的研究进展

IgA肾病是全球范围最常见的原发性肾小球疾病之一。其发病机制成为近年的研究热点。目前,国内外对该病发病机制所作的相关研究均表明IgA肾病与IgA1分子异常糖基化、糖基化转移酶基因和分子伴侣基因cosmc等基因异常表达导致糖基化转移酶活性降低、免疫炎症刺激、细胞因子作用以及B、T细胞参与的一系列免疫调节反应相关。     

多囊卵巢综合征的炎症机制及中药干预进展

多囊卵巢综合征(polycystic ovarian syndrome,PCOS)是一种常见,异质,复杂的内分泌疾病。胰岛素抵抗与高雄激素血症是多囊卵巢综合征发病的两大核心病理基础,但确切机制尚未清楚。近年来大量研究证据表明,PCOS患者体内存在低度炎症,而体内低度炎症状态又能诱发的高雄激素导致代谢异常,增加胰岛素抵抗的产生诱导及加重PCOS。中医认为痰瘀互结是低度炎症的基本病理特征,中医药的干预治疗有助于改善PCOS体内低度炎症状态。本文将从PCOS的炎症机制及中医药干预对其的影响作一综述,以期为PCOS的机制研究拓展新的思路,为中医药的干预治疗提供基础理论依据。     

多囊卵巢综合征的研究进展

多囊卵巢综合征（PCOS）是育龄妇女内分泌疾病中最常见的一种，患病率为5％～10％。因其涉及下丘脑、垂体、卵巢、肾上腺、胰腺及遗传等诸多因素，发病机制、生化改变及临床表现有高度异质性，确切病因尚未阐明，成为目前妇科内分泌领域内最复杂的研究热点。本文就近年来PCOS的研究进展作一综述。     

血清抗苗勒管激素在多囊卵巢综合征诊断中的应用价值

近年来的研究发现血清抗苗勒管激素(anti-mullerian hormone,AMH)反映窦卵泡数目,是卵巢储备功能的诊断指标之一,多囊卵巢综合征(polycystic ovary syndrome,PCOS)是一种常见的生殖内分泌代谢疾病,发病原因不清楚,AMH在P-COS患者中异常增高,因AMH不受月经周期的影响,指标更客观,故国内外有较多研究探讨血清AMH是否可以做为诊断多囊卵巢综合征的指标。本综述旨在总结AMH和PCOS两者之间的关系、探讨AMH在PCOS诊断中的应用。     

维生素D对多囊卵巢综合征患者生育影响的研究进展

多囊卵巢综合征(PCOS)是常见的妇科内分泌疾病,常见临床表现包括月经不规律、高雄激素血症、胰岛素抵抗及排卵障碍性不孕等。目前关于PCOS的确切病因与发病机制尚不清楚。研究发现PCOS患者普遍存在维生素D的缺乏,适当补充维生素D可能有助于改善PCOS患者的临床相关症状及生育情况。本文就目前维生素D对PCOS患者影响的相关文献进行综述。     

miR-9的靶蛋白在多囊卵巢综合征患者卵巢组织中的研究进展

多囊卵巢综合征(PCOS)是育龄女性最常见的一种生殖内分泌疾病,目前全世界育龄期女性的发病率占到4%~10%。PCOS具有异质性,其病理改变十分复杂,包括窦状卵泡发育异常、颗粒细胞增生凋亡、卵泡膜细胞过度增生、高雄激素血症及慢性排卵障碍等。至今具体发病机制尚未阐明,多基因异常和环境改变被认为是PCOS发病机制的两个重要因素。近年研究发现,微小核糖核酸(miRNA)异常表达与氧化应激、胰岛素抵抗、高雄激素血症、炎症以及各种癌症形成有关。研究显示,微小核糖核酸-9(miR-9)在PCOS患者卵泡液及卵巢颗粒细胞中的表达水平较健康妇女明显升高,考虑可能与PCOS的发病机制有关。通过KEGG database pathway及Target Scan等软件进行生物信息学分析结果提示miR-9主要的靶蛋白有核因子κB亚基1(NF-κB1)、肿瘤坏死因子-α(TNF-α)、丝裂原活化蛋白激酶14(MAPK14)、胰岛素受体底物2(IRS2)等。文本将对miR-9的靶蛋白在PCOS患者卵巢组织中的表达研究进展进行综述。     

卒中后抑郁研究新进展

卒中后抑郁是脑卒中最为常见的精神并发症,显著增高脑卒中的致残率、复发率和死亡率。卒中后 抑郁的发病机制尚未明确,因此影响其诊断和治疗。卒中后抑郁属于神经病学和精神病学交叉范畴,近年 来成为神经及精神领域研究热点,对于其诊疗国内外均已发表专家共识或相关指南;在机制方面研究表明 卒中后抑郁和单纯抑郁障碍发病机制存在差异,一系列综合因素与卒中后抑郁的发病机制相关,这其中包 括社会心理学机制、基因多态性、卒中临床特征、神经内分泌机制等。本文就近年来卒中后抑郁的诊断、发 病机制及治疗展开综述。     

多囊卵巢综合征的研究进展

多囊卵巢综合征(PCOS)为育龄女性常见的一种疾病,目前对于该疾病的发病机制还不是十分清楚,可能与遗传、环境等因素有关。本文出于对PCOS的临床研究进展进行综述的目的,从PCOS的病因研究、诊断研究以及治疗研究进展等方面进行了具体阐述。     

偏头痛的遗传学研究进展

偏头痛是一种常见的神经血管紊乱疾病,其发病机制还不十分清楚,遗传因素和环境因素共同作用促使其发生。偏头痛的遗传学机制目前研究还不透彻,唯一定论的是符合孟德尔遗传的家族性偏瘫型偏头痛(familial hemiplegic migraine,FHM),此外还有很多离子通道基因、神经系统相关基因、血管基因以及激素相关基因与偏头痛易感性有关,但这些候选基因是否属于偏头痛的致病基因还需要大量实验验证。表观遗传学在偏头痛发病机制中可能发挥一定的作用,其研究还处于起步阶段。     

Genomic variants in polycystic ovary syndrome

The polycystic ovary syndrome (PCOS) is a common disorder in premenopausal women, characterized by the presence, among other traits, of hyperandrogenism, insulin resistance, and hyperinsulinism. The familial aggregation of PCOS lead the interest to the molecular genetic basis of this syndrome, especially to the genes encoding proteins involved in androgen synthesis and the regulation of insulin synthesis and action. Considering the relationship between insulin resistance and chronic inflammation, and the clustering of inflammatory markers in PCOS patients, recent studies focused on the involvement of proinflammatory genotypes on the pathogenesis of PCOS. Mounting evidence suggest at present a complex model of inheritance for PCOS, in which predisposing and protecting genomic variants interact with environmental factors such as obesity and a sedentary lifestyle, finally leading to the classic phenotype of this syndrome. Moreover, the association of hyperandrogenism, insulin resistance and chronic inflammation raised the possibility of an increase risk of cardiovascular disease in women suffering from PCOS. In the present review we will summarize the most important findings published to date regarding the molecular genetic mechanisms underlying the association of PCOS with insulin resistance and chronic inflammation, and the possible interaction of these mechanisms with environmental factors.     

Graves病表观遗传学的进展

Graves病（GD）又称毒性弥漫性甲状腺肿,是引起甲状腺功能亢进最常见的原因。最近研究表明遗传易感性和环境诱发因素的相互作用被认为是导致GD发病的关键原因;而表观遗传学是环境与遗传之间的桥梁,越来越多的证据表明表观遗传修饰,包括DNA甲基化、组蛋白共价修饰以及由非编码的RNA分子介导的基因沉默,在GD的发病机制中扮演着重要的角色。本文主要阐述表观遗传学参与GD发病的机制以及相关的临床潜在应用。     

AMHR、INSR及其基因甲基化与PCOS相关病变关系研究进展

多囊卵巢综合征（PCOS）是指以月经紊乱、持续排卵障碍、高雄激素症、卵巢多囊样变为特征的病变.其病理特征主要表现为窦前卵泡发育过多而优势卵泡发育受阻,卵巢血管增生引起的卵巢增大,包膜增厚等病理改变.关于P-COS的发病机制非常复杂,目前已经认识到PCOS是涉及内分泌、代谢和遗传等许多因素的内分泌与代谢紊乱的疾病.而其所引起的不孕症是现代社会所面临的严重问题.目前公认为高胰岛素血症、高雄激素血症是PCOS的两大内分泌特征,由其所引起的全身及局部的一系列病理变化是导致不孕的主要原因,而无排卵及子宫内膜容受性差是不孕不育最直接的原因.抗苗勒管激素（AMH）作为卵巢局部一种调节因子,目前认识到其与卵泡生长发育及闭锁有关,甚至参与了高雄激素血症的发生,其主要通过抗苗勒管激素受体（AMHR）发挥作用,近年来已成为研究热点.胰岛素主要通过胰岛素受体（INSR）、受体后信号发挥生物学作用,且认为与子宫内膜、卵巢组织增生有关,并且影响着子宫内膜的容受性,由此可见AMHR与INSR在PCOS发病中起着承前启后的重要作用,并有学者认为其数目甚至功能的变化与PCOS及其并发症的产生有直接或者间接的关系,目前关于AMHR及INSR在PCOS患者中的分布及作用研究多集中于血液、卵巢局部及动物实验阶段,并尝试逐渐深入基因水平,而现阶段大多数学者认为PCOS是一种遗传与环境共同作用全身性疾病,表观遗传学被认为是解释其发病的最合理的解释,而表观遗传学最基本的修饰方式为DNA的甲基化,本研究现将AMHR及INSR的分布、表达及其基因水平的变化（甲基化）与PCOS相关病变的关系做一综述.     

COPD相关性疲劳的研究进展

疲劳是COPD患者的第二大常见的症状,发生率高,干扰了患者正常的工作生活。本文综述了疲劳的概念和发病机制,以及COPD 患者疲劳症状的诱因和治疗方法,为医务人员加深对疲劳的了解,以采取有效的措施,缓解患者疲劳,提高其生活质量提供参考。     

Genetic basis of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) was the first cardiovascular disorder in which a genetic basis was identified. The disease is characterized by a marked thickening of the left ventricle and is the most common structural cause of sudden cardiac death in those aged under 35 years. HCM is primarily a disease of the sarcomere with over 250 mutations identified currently within 13 sarcomere-related genes. At present, genetic screening is available for the genes shown to cause HCM most frequently, with a mutation pick-up rate of up to 60%. Current research is focused on the identification of additional causative genes and elucidation into signaling mechanisms involved in HCM pathogenesis, as well as investigation of modifying factors that can alter the clinical phenotype in HCM. The unifying goal of these studies is to improve our understanding of disease pathogenesis in HCM, thereby facilitating the process of new diagnostic and therapeutic approaches in patients, ultimately leading to disease prevention and possible curative treatment.     

Cerebrovascular disease in children

Cerebrovascular disease in children is more common than was once recognized. It is typically associated with an underlying anatomic anomaly or systemic disease. The most common underlying anomaly found with thrombotic or embolic stroke is congenital or acquired heart disease, while the most common predisposing factors to intracranial hemorrhage in children, other than trauma, are the leukemias and arteriovenous malformations. Many of the disorders associated with childhood stroke are treatable. Children tend to show more recovery after a stroke than adults do.     

Genetic basis of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) was the first cardiovascular disorder in which a genetic basis was identified. The disease is characterized by a marked thickening of the left ventricle and is the most common structural cause of sudden cardiac death in those aged under 35 years. HCM is primarily a disease of the sarcomere with over 250 mutations identified currently within 13 sarcomere-related genes. At present, genetic screening is available for the genes shown to cause HCM most frequently, with a mutation pick-up rate of up to 60%. Current research is focused on the identification of additional causative genes and elucidation into signaling mechanisms involved in HCM pathogenesis, as well as investigation of modifying factors that can alter the clinical phenotype in HCM. The unifying goal of these studies is to improve our understanding of disease pathogenesis in HCM, thereby facilitating the process of new diagnostic and therapeutic approaches in patients, ultimately leading to disease prevention and possible curative treatment.     

Polycystic ovary (Stein-Leventhal) syndrome: etiology, complications, and treatment.

Polycystic ovary syndrome (PCOS) occurs in approximately 3% to 5% of the female population and may be the leading cause of infertility in those of reproductive age. PCOS presents clinically with a variety of signs and symptoms; the most common being menstrual irregularities, hyperandrogenism, infertility, and obesity. The true pathophysiology has not been clearly elucidated; however, there is growing agreement that gonadotropin dynamic dysfunction, hyperandrogenism, and insulin resistance are key features. The diagnosing of PCOS involves radiologic and laboratory studies. Radiologic studies typically include pelvic ultrasound; laboratory data should be obtained regarding pertinent gonadotropins and other hormone levels. PCOS is not a benign condition. It may lead to complications involving glucose metabolism, dyslipidemias, cardiovascular disease, and cancer. The goals of treatment should focus on restoring menstrual regularity, decreasing androgen excesses, and decreasing insulin resistance.     

COPD相关性疲劳的研究进展

疲劳是COPD患者的第二大常见的症状,发生率高,干扰了患者正常的工作生活。本文综述了疲劳的概念和发病机制,以及COPD患者疲劳症状的诱因和治疗方法,为医务人员加深对疲劳的了解,以采取有效的措施,缓解患者疲劳,提高其生活质量提供参考。