氧化应激和糖基化终末产物在2型糖尿病心肌病变中的作用及其相关性

目的研究氧化应激因素和糖基化终末产物(AGEs)在2型糖尿病(T2DM)心肌病变(DCM)的作用及其相关性。方法选择泰安地区的T2DM患者78例,根据超声心动图、冠状动脉造影等情况,分为单纯T2DM组40例,DCM组38例,另选取正常对照组(NC)40例。测定超氧化物歧化酶(SOD)、丙二醛(MDA)、一氧化氮(NO)以及谷胱甘肽过氧化物酶(GHS-PX)等氧化应激指标和糖基化终末产物(AGEs),进行数据统计,并进行相关性分析。结果 T2DM组SOD、NO、GHS-PX较NC组均明显下降,MDA、AGEs则较NC组均明显升高;而DCM组较T2DM组SOD、GHS-PX明显下降,MDA、AGEs明显升高,差异均有统计学意义(P<0.01),而血清NO水平T2DM组较NC组下降,DCM组再次升高,且高于NC组,差异均有统计学意义(P<0.01)。结论氧化应激因素和AGEs在DCM的进展中均有重要作用,促进DCM的发生和发展,且二者之间有相关性,SOD的下降和MDA的升高是AGEs的独立相关因素。     

围生期心肌病33例临床分析

目的探讨围生期心肌病的临床特点。方法回顾性分析33例围生期心肌病病例的心电图,胸片,超声心动图等指标及治疗转归。结果 33例患者均有不同程度的心力衰竭表现,入院时心功能(NYHA分级)III级16例,IV级17例,其中31例患者左室射血分数平均值(0.46±0.09)。经过治疗后,患者临床症状缓解或消失,其中显效11例,有效21例,无效1例,其中7例产前发病患者采取适时终止妊娠,母婴平安。结论围生期心肌病经过及时的诊断和治疗,部分患者心功能可以得到改善和恢复。     

糖尿病肾病患者贫血的特点及其相关因素分析

目的：分析糖尿病肾病患者贫血的特点及其影响因素。方法：临床和肾活检明确诊断为2型糖尿病肾病患者235例,分析贫血的发生率、贫血的性质及其与肾小管功能、血清肌酐（SCr）和胱抑素C（cystatinC,Cys-C）水平以及代谢指标及其他血管并发症的关系。结果：235例糖尿病肾病患者总的贫血发生率为43.8%,SCr正常患者即已出现相当比例的贫血;患者大部分为正细胞正色素性贫血;血红蛋白（Hb）与RBP、NAG水平成负相关（r=-0.310,-0.353,P〈0.01）,贫血组肾小球滤过率（eGFR）正常者大部分已存在肾小管功能损害;SCr在正常情况下贫血组肾小管病变较非贫血组更重;Hb与eGFR、Cys-C成正相关（r=0.365,0.578,P〈0.01）,在eGFR下降前即出现贫血;Cys-C升高者小管病变更重;非贫血组胰岛素及C肽水平明显高于贫血组;非贫血者三酰甘油水平较高,贫血者高密度脂蛋白胆固醇更高;Hb与血清白蛋白及前白蛋白水平成正相关（r=0.504,0.282,P〈0.05）,非贫血组患者体重指数高于贫血组;贫血组视网膜病变及心脏病变发生率明显高于非贫血组（P〈0.01）。结论：糖尿病肾病患者贫血的发生率高,并且出现时间早,它与患者的肾小管间质病变密切相关,在GFR下降前即可出现贫血。糖尿病肾病的贫血除与患者的肾功能有关外,还与体内存在的代谢异常及患者的营养状态相关。贫血是糖尿病肾病患者出现其他血管并发症的高危因素。因此,认识糖尿病肾病患者贫血的特点,早期纠正贫血对改善患者症状,减少并发症的发生,提高患者生活质量具有重要意义。     

意外电击致死16例尸检病理分析

目的 探讨电击致死的诊断依据.方法 收集2001年1月-2008年7月受理的16例意外电击致死法医尸检案例.采用大体观察和HE镜下观察.结果 16例意外电击致死尸检肉眼具典型电流斑者仅5例,光镜下典型电流斑11例.非典型电流斑形态多样化,以单纯性表皮剥脱和颜色改变多见.体内器官病理变化主要为心肌纤维排列紊乱、断裂较明显和部分案例心肌间质灶性出血和血管内皮细胞极性化改变.结论 光镜下皮肤电流损伤是诊断电击致死的主要依据;而心肌的病理改变具有一定的辅助诊断意义.     

Effects of physical training on the myocardium of streptozotocin-induced diabetic rats

Summary Effects of endurance swimming training on myocardial contractility and left ventricular myosin isoenzymes were examined in diabetic rats. A diabetic condition was induced in 15-weck-old male Wistar rats, by intravenous injection of streptozotocin (50 mg/kg). Swimming training was carried out for five to six weeks (90 min/day, 6 days/week). In order to estimate myocardial contractility, the isometric developed tension of the isolated left ventricular papillary muscle was measured. Myosin isoenzymes were obtained by pyrophosphate gel electrophoresis. Fasting blood glucose of the trained group was significantly lower than that of the sedentary group (sedentary vs. trained=409.6±25.9 vs. 266.3±20.5 mg/dl, p<0.001). There was no significant difference in isometric developed tension (T) between the two groups, and the dT/dt_max of the trained group showed a tendency to increase (sedentary vs. trained, T: 2.8±0.8 vs. 2.9±0.8 g/mm², dT/dt_max: 23.1±3.6 vs. 26.2±3.5 g/mm² · 2, p<0.1). Myocardial mechanical responses to isoproterenol and dibutyryl cAMP were increased in the trained group. Left ventricular myosin isoenzyme pattern was shifted towards VM-1 by endurance swimming (sedentary vs. trained, VM-1: 5.6±4.5 vs. 19.6±8.8%, p<0.001, VM-3: 75.1±10.0 vs. 54.9±14.7%, p<0.001). These results indicate that endurance swimming can improve disordered glucose metabolism and also influence myocardial contractility, myocardial catecholamine responsiveness, and energetics in myocardial contraction.     

Muerte súbita de jóvenes: rendimiento diagnóstico de un programa autonómico de autopsia molecular con secuenciación masiva

Introduction and objectivesSudden cardiac death (SCD) in young people often has a genetic cause. Consequently, the results of “molecular autopsy” may have important implications for their relatives. Our objective was to evaluate the diagnostic yield of a molecular autopsy program using next-generation sequencing.MethodsWe performed a prospective study of a cohort of consecutive patients who died from nonviolent SCD, aged ≤ 50 years, and who underwent molecular autopsy using large panels of next-generation sequencing, with subsequent clinical and genetic family screening. We analyzed demographic, clinical, toxicological, and genetic data.ResultsWe studied 123 consecutive cases of SCD in persons aged ≤ 50 years. The incidence of SCD was 5.8 cases/100 000 individuals/y, mean age was 36.15 ± 12.7 years, and 95 were men (77%). The cause was cardiac in 53%, unexplained SCD in 24%, toxic in 10.6%, and infant SCD in 4%. Among cardiac causes, ischemic heart disease accounted for 38% of deaths, arrhythmogenic cardiomyopathy for 7%, hypertrophic cardiomyopathy for 5%, and idiopathic left ventricular hypertrophy for 11%. Genetic analysis was performed in 62 cases (50.4%). Genetic variants were found in 42 cases (67.7%), with a mean of 3.4 ± 4 genetic variants/patient, and the variant found was considered to be pathogenic or probably pathogenic in 30.6%. In unexplained SCD, 70% showed some genetic variant. Family screening diagnosed 21 carriers or affected individuals, 5 of whom were at risk, indicating an implantable cardiac defibrillator.ConclusionsProtocol-based and exhaustive study of SCD from cardiac causes in persons aged ≤ 50 years is feasible and necessary. In a high percentage of cases, the cause is genetic, indicating the existence of relatives at risk who could benefit from early diagnosis and treatment to avoid complications.Full English text available from: www.revespcardiol.org/en     

Next generation sequencing applications for cardiovascular disease

The Human Genome Project (HGP), as the primary sequencing of the human genome, lasted more than one decade to be completed using the traditional Sanger’s method. At present, next-generation sequencing (NGS) technology could provide the genome sequence data in hours. NGS has also decreased the expense of sequencing; therefore, nowadays it is possible to carry out both whole-genome (WGS) and whole-exome sequencing (WES) for the variations detection in patients with rare genetic diseases as well as complex disorders such as common cardiovascular diseases (CVDs). Finding new variants may contribute to establishing a risk profile for the pathology process of diseases. Here, recent applications of NGS in cardiovascular medicine are discussed; both Mendelian disorders of the cardiovascular system and complex genetic CVDs including inherited cardiomyopathy, channelopathies, stroke, coronary artery disease (CAD) and are considered. We also state some future use of NGS in clinical practice for increasing our information about the CVDs genetics and the limitations of this new technology.

• Key messages

• Traditional Sanger’s method was the mainstay for Human Genome Project (HGP); Sanger sequencing has high fidelity but is slow and costly as compared to next generation methods.

• Within cardiovascular medicine, NGS has been shown to be successful in identifying novel causative mutations and in the diagnosis of Mendelian diseases which are caused by a single variant in a single gene.

• NGS has provided the opportunity to perform parallel analysis of a great number of genes in an unbiased approach (i.e. without knowing the underlying biological mechanism) which probably contribute to advance our knowledge regarding the pathology of complex diseases such as CVD.

     

MRI检测糖尿病心肌病研究进展

糖尿病心肌病是表现为心室功能异常的糖尿病心血管并发症,早期检测和诊断糖尿病心肌病有助于预防不良心血管事件的发生,降低死亡率。目前心脏MRI技术飞速发展,新序列的开发不仅可有效地检测疾病本身,也有助于理解疾病产生的病理生理机制。本文就近年来心脏MRI检测糖尿病心肌病的研究进展进行综述。