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.     

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。     

旋覆花素对过度训练致急性心肌损伤大鼠caspase-3和细胞色素c表达的影响

目的 探讨旋覆花素对过度训练致急性心肌损伤大鼠半胱氨酸天冬氨酸酶-3(caspase3)和细胞色素c表达的影响.方法 雄性Wistar大鼠48只,体重200 ～ 220 g,采用随机数字表法,将其随机分为3组:正常对照组(C组,n=8)、过度训练组(E组,n=24)和旋覆花素组(IB组,n=16).E组和IB组采用游泳致力竭法制备过度训练致大鼠急性心肌损伤模型.IB组于过度训练前24 h及过度训练前即刻分别经口灌入旋覆花素25 ml/kg.E组于过度训练后即刻、6、24h时,IB组于过度训练后6、24h时分别取8只大鼠,采集下腔静脉血样,采用ELISA法检测血清心肌肌钙蛋白I(cTnI)浓度;然后处死大鼠,取心肌组织,采用免疫组化法检测心肌组织caspase-3和细胞色素c表达,光镜下观察心肌组织病理学结果.结果 与C组比较,E组和IB组过度训练后各时点血清cTnI浓度升高,心肌组织caspase-3与细胞色素c表达上调(P＜0.05);与E组比较,IB组过度训练后6、24h时血清cTnI浓度降低,心肌组织caspase-3与细胞色素c表达下调(P＜0.05).IB组心肌损伤程度轻于E组.结论 旋覆花素可减轻过度训练致大鼠急性心肌损伤,其机制与下调心肌组织caspase-3及细胞色素c表达有关.     

HTK液与含血停搏液对瓣膜置换术中心肌保护的研究

目的比较HTK液和含血停搏液在风湿性心脏病患者瓣膜置换术中的心肌保护效果。方法42例风湿性心脏病联合瓣膜病的患者分为对照组（应用4：1冷含血停搏液）和实验组（应用HTK液）。测定麻醉诱导前、术后6、12、24h的心排量（CO）和心脏指数（CI）,并比较两组患者主动脉阻断时间、主动脉开放到心脏复跳时间、辅助循环时间、心脏自动复跳率、心律失常、起搏器应用、多巴胺平均最大剂量、呼吸机支持时间等临床指标。结果实验组患者术后12h和24h监测点心排量和心指数均高于对照组[12h：（4．82±0．18）IMminvs（3．50±0．32）L／min,（3．80±0．48）I／（min·m^2）vs（2．79±0．39）I／（min·m^2）;24h：（4．97±0．45）L／minV8（3．81±0．19）L／min,（4．22±0．17）L／（min·m^2）vs（2．91±0．21）L／（min·m^2）,P〈0．05];主动脉阻断时间、主动脉开放到心脏复跳时间、辅助循环时间,多巴胺最大剂量、呼吸机支持时间均低于对照组[（53．6±24．3）min vs（68．9±26．1）min;（1．8±1．3）min vs（2．3±1．2）min;（33±11）min vs（42±13）min;（10．2±2．1）μg／（kg·min）vs（15．7±3．8）μg／（kg·min）;（14．6±4．8）hV8（20．7±5．1）h,P〈0．05],心脏自动复跳率高于对照组（90％ vs 67％,P〈0．05）,术后出现心律失常、低心排和使用临时心脏起搏器的患者数在实验组中明显减少。结论HTK心脏停搏液对风湿性心脏病患者瓣膜置换术中心肌的保护作用优于1：4含血停搏液。     

病理性心脏脂肪浸润的MSCT特征

目的：利用MSCT观察病理性心脏脂肪浸润的影像特征.方法：观察不同病因导致心脏脂肪浸润的85例患者的CT图像,分析其不同的心肌脂肪浸润形态特点和分布规律.结果：85例病理性脂肪浸润者包括陈旧性心肌梗死脂肪浸润69例,致心律失常性右心室发育不全4例,房间隔脂肪瘤样肥厚7例,病毒性心肌炎5例.其脂肪分布分别具备各自的特征性.结论：不同病变导致的心脏脂肪浸润的形态特征以及分布区域具备各自的特征性,有助于鉴别诊断.     

Use of Short-term Circulatory Support as a Bridge in Pediatric Heart Transplantation

Background

Heart transplantation is considered the gold standard therapy for the advanced heart failure, but donor shortage, especially in pediatric patients, is the main limitation for this procedure, so most sick patients die while waiting for the procedure.

Objective

To evaluate the use of short-term circulatory support as a bridge to transplantation in end-stage cardiomyopathy.

Methods

Retrospective clinical study. Between January 2011 and December 2013, 40 patients with cardiomyopathy were admitted in our Pediatric Intensive Care Unit, with a mean age of 4.5 years. Twenty patients evolved during hospitalization with clinical deterioration and were classified as Intermacs 1 and 2. One patient died within 24 hours and 19 could be stabilized and were listed. They were divided into 2 groups: A, clinical support alone and B, implantation of short-term circulatory support as bridge to transplantation additionally to clinical therapy.

Results

We used short-term mechanical circulatory support as a bridge to transplantation in 9. In group A (n=10), eight died waiting and 2 patients (20%) were transplanted, but none was discharged. In group B (n=9), 6 patients (66.7%) were transplanted and three were discharged.The mean support time was 21,8 days (6 to 984h). The mean transplant waiting list time was 33,8 days. Renal failure and sepsis were the main complication and causeof death in group A while neurologic complications were more prevalent en group B.

Conclusion

Mechanical circulatory support increases survival on the pediatric heart transplantation waiting list in patients classified as Intermacs 1 and 2.