正常人心脏传导系统神经组织的免疫组化研究

作者应用抗Ｓ１００抗体，对１０例正常心脏传导系统的神经进行了免疫组化研究。结果显示：Ｓ１００阳性的神经组织在心脏传导系统内广泛分布，其含量以窦房结最多，房室结次之，希氏束和束支最少。该研究获得了正常人心脏传导系统神经组织分布的概貌，为进一步研究心脏传导系统神经组织病变与猝死的关系打下了基础。     

心脏传导系统的增龄性变化

心脏传导系统（CCS）包括窦房结（SAN）、房室结（AVN）、房室束（又称希氏束，HB）、左右束支（LBB，RBB）及其终末纤维网，其功能是把心脏搏动的冲动传导到整个心脏，以协调心脏的节律性收缩．近年来，CCS病变与猝死的关系引起重视，已有研究表明，一些猝死与CCS的病变有关。但在实际应用中，必须将CCS增龄变化同其病变区分开来，以免误将其正常增龄变化视为病变，导致错误的结论．1SAN的年龄变化在光镜水平，Lev[1]首先对53例4个月胎儿至90岁老人的SAN进行了分年龄组观察；Davies[2]对50岁以下和75岁以上两组各50例的SAN…     

Diagnostic value of post-mortem examination of the cardiac conduction system

Introduction (Aim)

Sudden unexplained death (SUD) is a common problem in forensic pathology. In many of these cases, the autopsy findings, toxicological examinations and patient history are inconclusive. Many studies suggest that in such cases, the cardiac conduction system (CCS) should be histologically examined. We decided to determine the diagnostic value of histological examination of the CCS.

Methods

We reviewed autopsy files from the period 2005–2007 and selected those cases in which the CCS had been sampled. These were divided into two groups, the first comprising cases with an obvious cardiac pathology (e.g. severe coronary disease, myocardial infarction, significant myocardial hypertrophy/dilatation, valvular disease, etc.) and the second comprising cases without obvious cardiac pathology (i.e. fatal injuries, intoxications and deaths unexplainable by routine procedures). The CCS was sampled according to a detailed protocol and examined under a light microscope. On the basis of the findings of histological examination of CCS, we formed subgroups of the aforementioned main groups.

Results

We analyzed 118 cases, of which 83 were males and 35 females. In 57% of cases, autopsy revealed gross pathological abnormalities of the heart. In 10 (15%) of them, examination of the CCS showed significant pathological changes (narrowing of the nodal artery and its branches, moderate to severe interstitial fibrosis, calcifications in the central fibrous body impinging upon CCS). In some, especially those with no acute findings, CCS disease can be considered to have been the cause of fatal arrhythmias. In 43% of cases, autopsy revealed no gross abnormalities of the heart, while histological examination of the CCS disclosed significant pathological changes in 4 (8%). Among them, CCS disease was regarded as the cause of death in one case and as a possible cause in another case.

Conclusion

As with other similar studies, our study showed that examination of the CCS can provide valuable information on the cause of death. We therefore consider that examination of the CCS should be performed in all SUD cases, especially those in which the cause of death cannot be established by routine procedures. Although we had only 1 confirmed cause of death linked to CCS disease and one possible, we had 14 cases with significant pathological CCS changes. This leads us to the conclusion that post-mortem examination of the CCS is of diagnostic value.     

Examination of the cardiac conduction system: forensic application in cases of sudden cardiac death

Forensic pathologists may occasionally encounter cases of apparent sudden cardiac death without gross cardiac abnormality. In some of these cases, evaluation of the cardiac conduction system may reveal pathologic lesions which may act as the substrates for ventricular tachyarrhythmias and sudden death. Sample case studies are used to illustrate the suggested criteria and techniques for examination, and commonly-encountered pathologic lesions and normal variants are discussed.     

Sudden death resulting from lesions of the cardiac conduction system

Sudden unexpected deaths in young persons with noncontributory histories, autopsy results, and drug screen results are a common problem in forensic pathology. As part of the evaluation of such cases, the cardiac conduction system (CCS) should be studied. To determine the type and incidence of lethal CCS lesions, the authors reviewed their files of sudden unexpected cardiac deaths with particular attention to cases with causes of death in the conduction system. Cases of sudden cardiac death in patients aged < or=40 years during a 10-year period (Michigan) and a 4 year-period (Spain) were selected from the files. From this group, cases were identified in which the cause of death was a lethal change in the CCS. The portions of the heart containing the CCS were excised, and at least one hematoxylin and eosin slide and at least one trichrome or elastic trichrome slide per block were studied. In the two centers, 381 cases of sudden cardiac death were identified. The most common causes of sudden cardiac death were arteriosclerotic narrowing of the coronary arteries, cardiomyopathy, and myocarditis. In 82 cases, there was no identifiable cause of death even after complete gross and microscopic autopsy was performed, a medical history was obtained, and a drug screen was performed. In 11 cases, the CCS contained lesions that were considered lethal: narrowing of the atrioventricular node artery by fibromuscular hyperplasia (7 cases) and atrioventricular node tumors (4 cases). The 11 cases accounted for 2.9% of the 381 cases of sudden cardiac death and 11.8% of the indeterminable cases. It was concluded that examination of the CCS in deaths in which the gross and microscopic autopsy, history, and drug screen fail to provide a cause of death can yield a cause of death in a significant percentage of cases. If heart block was not documented during life and no explanatory lesions were found during routine cardiac examination, examination of the CCS can yield valuable information.     

886例人心传导系统形态变异研究

探讨划分心传导系统 (CCS)变异与发育异常的界限。用本组建立的CCS检查法[1] ,连续切片 ,HE或Masson三色染色 ,光镜检查 ,对非心源性死亡组 (737例 )和心源性猝死组 (14 9例 )进行形态学及死因对比分析。结果显示 :(1)人CCS具有大小、位置和形态的先天性变异 ;(2 ) 4例心源性猝死者的房室结、房室束发育异常。房室束分叉部向室间隔膜部内移位、偏向于室间隔左侧、向左下侧移位 ,以及不足 1/2房室结移位至中心纤维体内、普通心肌移位至房室束或左束支内等应属变异 ;成年人胎儿型房室结及房室结全部移位至中心纤维体内或房室束完全分成 3束以上 ,房室束分叉部移位至三尖瓣根部应视为发育异常     

青年人CCS脂肪超前变化致猝死

为研究心传导系统（CCS）与猝死的相互关系，对120例心性猝死者CCS作常规检查，光镜下作半定量计算其脂肪含量。结果发现：9例经一般常规尸检未找到任何致死原因的青年人（30岁以下），其房室结（AVN）与房室束（HB）的脂肪组织含量为70％，比同龄人明显增多，致使结、束肌细胞被脂肪分割中断或压迫萎缩。结内外细胞连接不足或缺失是构成心电不稳的病理基础。此外本文尚对其脂肪浸润的病因发病，猝死机理作了探讨。     

DNATyper^TM15与Identifiler^TM试剂盒遗传学调查应用比较

目的比较DNATyper^TM 15和Identifiler^TM试剂盒的遗传学调查应用结果，以评价DNATyper^TM15试剂盒的指标和性能。方法用DNATyper^TM 15和Identifiler^TM试剂盒同时对290份北方汉族群体的血样本进行扩增检测，比较遗传学统计数据。结果DNATyper^TM15和Identifiler^TM荧光检测试剂盒中各基因座在汉族群体中的基因型分布均符合Hardy—Weinberg平衡，累积个人识别率和累计非父排除率：DNATyper^TM15试剂盒分别为2．66×10^-18和0．9999997；Identifiler^TM试剂盒分别为1．28×10^-17和0．9999984。且两个试剂盒对相同基因座的频率调查数据一致。结论DNATyper^TM15具有较高的个体识别和亲权鉴定能力，对法医学检案和DNA数据库建设具有应用价值。     

中国汉族人群的线粒体DNA控制区多态性研究

探讨mtDNA多态性在法庭科学中个体识别的理论基础。应用PCR扩增产物直接测序方法 ,对 111名中国北方地区汉族人群无血缘关系个体的mtDNA控制区 (HVⅠ和HVⅡ )进行测序分析。在高变区Ⅰ 15 998～ 16 40 0之间发现 10 2处碱基变异 ,10 3个mtDNA单倍型 ;在高变区Ⅱ 0 0 0 35～ 0 0 36 9之间的发现 36处碱基变异 ,6 9个mtDNA单倍型。其可变碱基的变异形式主要为碱基替代 (转换和颠换 )、插入和缺失 ;碱基转换 (78 9% )明显高于颠换(14 3% )、插入 (3 4% ) ,缺失 (3 4% )。分析表明 ,人群个体mtDNA控制区碱基序列 ,基因多样性为 99 9% ,两个无关个体的偶合概率为 0 92 % ,具有高度序列的多态性     

Sudden death following exercise testing related to abnormalities of the cardiac conduction system and coronary artery pathology

A case of sudden death following exercise testing in a 33-year-old man is reported. The forensic autopsy showed atherosclerotic stenosis of the left coronary artery, as well as some changes in the cardiac conduction system, including anomalies of the atrioventricular node and moderate fibrosis and fatty infiltration of the branching bundle. This case demonstrates that cardiac arrest during vigorous exercise may be multifactorial and that abnormalities of the cardiac conduction system may have played some role in the fatal issue.     

中国汉族人腰椎的性别差异

目的提供体质人类学的数据资料 ,建立中国汉族腰椎性别判别的方法。方法根据人体骨骼测量方法 ,测量 117付 (男 80 ,女 3 7付 ,年龄 17～ 90岁 )中国汉族人腰椎的 10项指标 ;选择性别差异显著的椎测量项目 ,建立腰椎及各腰椎的性别判别方程。结果第一至第五腰椎均有 5个以上的测量项目的数据存在显著意义的性别差异 (P<0 0 5 ) ;建立的 5个腰椎及各腰椎的性别判别方程 ,判别率在 69 4%～ 91 8% ,以 5个腰椎的多项指标的性别判别方程的准确率最高 (91 8% ) ,其次为第一腰椎 (84 5 % )和第二腰椎 (82 1% )。结论中国汉族人腰椎的性别差异以第一和第二腰椎明显 ,腰椎性别判定以多项指标的准确率高     

Metastatic calcification of the cardiac conduction system with heart block: an under-reported entity in chronic renal failure patients

Systemic metastatic calcification is a common complication of chronic renal failure. Cardiac involvement is particularly ominous, especially when the cardiac conduction system is affected. Conduction defects, arrhythmias, and sudden death have all been reported with conduction system calcification; however, these are relatively under-reported or unrecognized causes of cardiac morbidity and mortality. We describe a 40-year-old man with Von Hippel-Lindau disease who had been maintained on hemodialysis for two years following bilateral nephrectomies for renal cell carcinoma. The patient presented with symptomatic complete heart block that had progressed from Mobitz type I atrioventricular block. Two months later, while being internally paced, the patient died unexpectedly after a complicated hospital admission. Postmortem revealed extensive vascular, myocardial, and conduction system calcification. Conduction system calcification may cause sudden death in chronic renal failure patients during hospital admission, or unexpectedly while the patient is in the community. Knowledge of this condition is necessary to detect it, as the conduction system is not routinely examined. A routine abbreviated conduction system examination is warranted for patients with systemic metastatic calcification, especially if they have sudden death or a known history of heart block.     

中国汉族成人胸骨多项测量值与身高关系的研究

目的 研究中国汉族成人胸骨多项测量值与身高的关系,建立以胸骨推算身高的方法。方法 测量135例(男100,女35)已知身高的中国汉族成年人干燥胸骨的全长、柄长、体长、柄最大宽、柄最小宽、体最大宽、体最大厚、柄厚、柄最大厚9项指标,采用多元逐步回归分析的方法,分别求出由男性(分年龄组)和女性胸骨的多项测量值推算身高的多元回归方程式。结果 所建立的4个男性(分年龄组)和1个女性胸骨推算身高的多元回归方程式,其复相关系数(R)在0.6237～0.7350之间,标准差(s)在4.5720—7.0348之间。结论 根据人体胸骨的多项测量值可以推算其身高,准确性略低于四肢长骨的同类推算;相同身高组的男女性胸骨多项测量值均存在明显的性别差异,胸骨柄长不能作为单因素推算身高的测量指标。     

CI-mass fragmentographic analysis of methamphetamine and amphetamine in human autopsy tissues after acute methamphetamine poisoning

A 22-year-old male methamphetamine abuser was put under police protection owing to his abnormal state of excitation, but died 1 h later. Distribution of methamphetamine and amphetamine in the body was analyzed by the chemical ionization mass fragmentographic method. Amphetamine/methamphetamine concentrations (μmol/100 g) were $\text{0.24}\text{5.59}$ in blood, $\text{0.41}\text{9.43}$ in liver, $\text{0.41}\text{10.02}$ in brain, $\text{0.37}\text{9.80}$ in kidney, $\text{0.18}\text{4.57}$ in muscle, $\text{0.02}\text{0.63}$ in subcutaneous fat and $\text{1.87}\text{1464}$ in gastric contents. Total amount of methamphetamine hydrochloride in stomach contents was about 54 mg. Amphetamine concentrations in tissues ranged from 3.2% to 4.3% of methamphetamine, and was 0.1% in stomach contents. Amphetamine in tissues seems to be a metabolite of methamphetamine, and amphetamine in gastric contents is presumed to result from gastric mucous excretion. The blood concentration of methamphetamine was at a fatal level, and the total amount of the drug in gastric contents indicates that fatal poisoning occurred by ingestion.     

The earlobe crease, coronary artery disease, and sudden cardiac death: an autopsy study of 520 individuals

The majority of previous studies have demonstrated a correlation between diagonal earlobe creases (ELC) and coronary artery disease (CAD).In this study of 520 forensic autopsy cases, the earlobes were studied and photographed before autopsy, and the existence of a diagonal ELC was noted in 55%. The cause of death, the degree of coronary atherosclerosis, aortosclerosis, and cerebrosclerosis, as well as heart, kidney, and spleen weights, were noted in each case. The body mass index (BMI), thickness of abdominal fat, baldness, and excessive hair in the meatus externa of the external ears were also assessed. Nonparametric methods were used in the statistical calculations.It was found that ELC was strongly correlated with CAD in both men and women (P < 0.0001) but with sudden cardiac death (SCD) only in men (P < 0.04). The sensitivity of the ELC sign was 75% and the positive predictive value (ppv) was 68%. In individuals below 40 years, the ppv was as high as 80%. Using multiple logistic regression analysis, ELC was found to be the strongest independent risk factor for CAD and SCD apart from age and BMI (both genders), as well as baldness and hair in the meatus externa (in males).It is concluded that in a patient population similar to that in the present study the ELC sign could be especially useful in screening for premature CAD in younger individuals.     

The value of the hospital autopsy. A study of causes and modes of death estimated before and after autopsy

Among 312 consecutive deaths in a Danish Central Hospital autopsy was performed in the pathology department on 266 cases, i.e. 85%. Retrospectively, the underlying causes of death were estimated from the clinical information alone by an experienced clinician and subsequently compared with the autopsy report. The definite cause of death was determined jointly by the clinician and the pathologist. The clinician's diagnosis was thereby confirmed as incorrect in 18% of the cases if small differences in site and type of malignant tumours were not considered. This is less than in many other investigations, but it is stressed that this could partly be because formal errors in completing the death certificate were avoided. The main causes of death were ischaemic heart disease and neoplasia. Clinical diagnosis of malignant diseases was never found to be erroneous. There was a slight tendency to clinically overestimate ischaemic heart disease, but in general the different errors outweighed each other, so that the total number of different causes of death before and after autopsy was nearly the same. The original death certificate was investigated in 12 accidental cases. Hereby it was found that the mode of death was originally stated erroneously as natural in 7 cases, i.e. 4.5%. It is concluded that hospital autopsy is still needed for the control and correction of causes of death, and it is stressed that clinicians as well as pathologists should be more aware of cases with a trauma in the history to avoid errors in the mode of death. Such errors can imply legal as well as insurance problems.     

2个Y——STR基因座在成都汉族群体中的遗传学研究

目的为了寻求新的适合于法医学应用的Y染色体STR基因座,我们调查了基因座DYS442和DYS446在成都群体中的分布. 方法样本来自于成都地区汉族无血缘关系的个体,通过Chelex法提取样本DNA,利用PCR扩增硝酸银染色方法进行分型 . 结果 DYS442是一个四核苷酸简单重复基因座,而DYS446则为五核苷酸简单重复基因座.男性样本都出现了谱带,而女性样本则无PCR产物.DYS442基因座和DYS44 6基因座变异度分别为:0.6867、0.7552. 结论 DYS442和DYS446是非常适合于法医学应用的STR基因座.     

用PCR-SSP法分析中国辽宁汉族HLA-DRBI基因多态性

应用PCR－SSP方法对辽宁地区159名无关个体进行HLA－DRB1位点基因分型，检出8组等位基因（扩增片段大小为100bp），基因频率范围在0．02201～0．23899。36种可能基因型中检出33种。经x2检验符合Hardy－Weinberg平衡定律。本地区汉族群体的期望杂合度为85％，观察杂合度为83％。个人鉴别机率（DP）为0．94非父排除率（EPP）为66％。本法具有简单、快速、结果可靠的特点，不仅适用于法医学亲子鉴定和个人识别、移植配型，亦可用于相关疾病及人类遗传学研究。     

The polymorphic study of HLA-DRB1 gene in Chinese Liaoning Han with PCR-sequence specific primers

8 allele and group specificity at HLA-DRB1 locus were genotyped in 159 unrelated individuals of Liaoning Han, with polymerase chain reaction-sequence specific primers. The range of gene frequencies was from 0.02201-0.23899. Heterozagosity was 83%. 33 out of 36 theoretical genotypes were identified and the result conformed to Hardy-Weinberg equilibrium law. The present method can be used not only in paternity test, individual identification, but also in clinic graft matching between donor and recipient as well as the study of HLA.     

成都地区汉族人群D2S441位点的遗传多态性研究

为研究 STR位点 D2S441的遗传多态性,为法医学应用提供基础数据,应用 PCR及 PAG电泳技术对 260名成都地区汉族无关个体进行了调查,共检出 9个等位基因及 26种基因型,首次获得汉族群体频率分布 ,其等位基因片段大小范围为 131～ 155bp。该位点基因型频率分布符合 Hardy－ Weinberg平衡。家系调查证实了等位基因的传递遵循孟德尔遗传规律。其个人识别能力（ Dp）、杂合度（ H）、多态性信息含量（ PIC）和非父排除率（ PE）分别为 0.9084、 0.7885、 0.7390和 0.5778,表明该位点在法医学个人识别及亲子鉴定中具有较高的实用价值。