分子生物学检查在猝死综合症患者法医学尸体检验中的应用

猝死综合症用来泛指急死后是用传统检查技术手段未能发现致死病变的情况。由于原因不明，其诊断和病因学的研究均十分困难。猝死综合症的诊断是法医学尸体检验实践中的难题之一。近年来。随着分子生物学技术和遗传学研究的不断深入，对于一些与猝死有关的发现不断报道，有希望用于法医学实践，用于将此类猝死进一步分型，并为进一步的深入研究提供准确的流行病学资料。     

过敏性休克死亡法医学诊断的研究现状

过敏性休克死亡在临床医学及法医学鉴定中较为常见,但过敏性猝死的死后诊断一直是法医病理学鉴定的一大难点。近年来,国内外学者研究了过敏性死亡血清IgE、组胺、肥大细胞类胰蛋白酶和P物质的含量以及其在肺脏和胃肠等组织中的免疫表达,试图为过敏性猝死的法医学鉴定提供客观、准确的形态学依据和诊断指标。本文就过敏性休克死亡法医学诊断的研究进展和存在的问题加以综述。     

过敏性休克猝死的法医学鉴定7例

过敏性休克猝死的法医学鉴定７例黄飞骏，刘世沧（华西医科大学法医学系，四川６１００４１）过敏性休克的法医学鉴定有相当的困难。现将近１０年来我系鉴定为过敏性休克猝死的７例尸解材料进行分析，并就过敏性休克猝死的诊断问题进行探讨。１资料分析１．１一般情况死者...     

常见抗精神病药物心血管毒性的研究进展

心源性猝死居猝死发生率之首,除了心血管疾病等因素之外,抗精神病药物引起心血管损伤致心源性猝死也时常发生。在法医学司法鉴定案例中,因部分猝死案例有抗精神病药物服药史,案情调查可以发现心电图呈现缺血或者心律失常改变,但尸检后组织病理学检查无明显病理改变,故法医病理诊断该类型猝死存在一定困难。因此,研究抗精神病药物引起心源性死亡的原因和机制,寻找抗精神病药物引起心源性死亡的特异性指标尤为重要,本文通过对常见抗精神病药物药理作用及心血管毒性进行总结分析,为下一步开展抗精神病药物致心源性猝死的法医学研究及病理生理机制提供参考。     

波兰-莫比尤斯综合症(Poland-Moebius Syndrome)婴儿猝死一例

<正> 莫比尤斯综合症的特征是双侧面肌和第Ⅵ对脑神经麻痹。波兰综合症的特征是胸肌发育不全及同侧手畸型。波兰综合症与莫比尤斯综合症常常并发,两者一起被命名为波兰-莫比尤斯综合症。我们剖验了一例11月的男婴尸体,临床诊断为波兰-莫比尤斯综合症猝死。死后发现气     

冠心病猝死心肌肌动蛋白缺失的免疫组织化学定量研究

应用免疫组织化学LSAB法和图像处理系统，对德国慕尼黑大学法医学研究所1994年尸检冠心病猝死和对照组病例（各15例）的心肌肌动蛋白缺失情况进行定量研究。发现冠心病猝死病例心肌纤维内有明显的肌动蛋白缺失，是大小不一，多发、散在分布；对照组无或仅局限性小灶状缺失。将检测结果定量分析比较，其差异非常显著，说明重度冠状动脉粥样硬化患者是否冠心病猝死，其心肌肌动蛋白缺失的范围和程度有明显差异，冠心病猝死和对照组病例心肌肌动蛋白缺失的差异具有诊断意义，而形态定量分析能较客观准确地反映心肌纤维内肌动蛋白缺失量的变化。     

大鼠支气管哮喘模型的心肌HSP70表达研究

目的探讨支气管哮喘心肌组织的损害机制,为支气管哮喘诱发的猝死的法医学诊断提供形态学依据。方法应用HE和免疫组化技术,对大鼠支气管哮喘模型的心肌HSP70的表达规律进行研究。结果实验组的心肌HSP70阳性表达明显高于对照组(P<0.01),随着哮喘时间的延续,心肌HSP70的阳性表达逐渐增强(P<0.05),在第8周表达最强。结论实验组支气管哮喘早期心肌有损害,且随时间延续,损害增强。HSP70对支气管哮喘诱发的猝死的法医学诊断有一定的帮助。     

连接蛋白43与心性猝死的相关性研究进展

部分心性猝死者死后尸检时心脏没有发现明显病理学异常征象,过去均将其归属原因不明的猝死范畴。近年来研究显示,心肌连接蛋白43（connexin43,Cx43）表达对于心性猝死的诊断具有十分重要的意义。本文就Cx43结构、功能以及在心血管疾病发生发展中的作用与法医学意义作一综述。     

4例肺血栓栓塞致死的法医学鉴定

肺动脉血栓栓塞,简称肺血栓栓塞（pulmonary thromboembolism,PTE）,是指血栓栓塞肺动脉及其分支引起肺循环障碍的临床和病理生理综合症.因PTE导致的死亡突然、意外,常引起纠纷.本文回顾合肥市公安局刑科所4例因PTE死亡的案例资料,并就其猝死的发病机制及法医学鉴定应注意的问题进行讨论,以期有助于法医学实践工作.     

大鼠支气管哮喘模型的心肌HSP70表达研究

目的探讨支气管哮喘心肌组织的损害机制，为支气管哮喘诱发的猝死的法医学诊断提供形态学依据。方法应用HE和免疫组化技术，对大鼠支气管哮喘模型的心肌HSP70的表达规律进行研究。结果实验组的心肌HSP70阳性表达明显高于对照组（P〈0．01），随着哮喘时间的延续，心肌HSP70的阳性表达逐渐增强（P〈0．05），在第8周表达最强。结论实验组支气管哮喘早期心肌有损害，且随时间延续，损害增强。HSP70对支气管哮喘诱发的猝死的法医学诊断有一定的帮助。     

Is there progress in the autopsy diagnosis of sudden unexpected death in adults?

Sudden death is now currently described as natural unexpected death occurring within 1h of new symptoms. Most studies on the subject focused on cardiac causes of death because most of the cases are related to cardiovascular disease, especially coronary artery disease. The incidence of sudden death varies largely as a function of coronary heart disease prevalence and is underestimated. Although cardiac causes are the leading cause of sudden death, the exact incidence of the other causes is not well established because in some countries, many sudden deaths are not autopsied. Many risk factors of sudden cardiac death are identified: age, gender, heredity factors such as malignant mutations, left ventricular hypertrophy and left ventricle function impairment. The role of the police surgeon in the investigation of sudden death is very important. This investigation requires the interrogation of witnesses and of the family members of the deceased. The interrogation of physicians of the rescue team who attempted resuscitation is also useful. Recent symptoms before death and past medical history must be searched. Other sudden deaths in the family must be noted. The distinction between sudden death at rest and during effort is very important because some lethal arrhythmia are triggered by catecholamines during stressful activity. The type of drugs taken by the deceased may indicate a particular disease linked with sudden death. Sudden death in the young always requires systematic forensic autopsy performed by at least one forensic pathologist. According to recent autopsy studies, coronary artery disease is still the major cause of death in people aged more than 35 years. Cardiomyopathies are more frequently encountered in people aged less than 35 years. The most frequent cardiomyopathy revealed by sudden death is now arrhythmogenic right ventricular cardiomyopathy also known simply as right ventricular cardiomyopathy (RVC). The postmortem diagnosis of cardiomyopathies is very important because the family of the deceased will need counseling and the first-degree relatives may undergo a possible screening to prevent other sudden deaths. In each case of sudden death, one important duty of the forensic pathologist is to inform the family of all autopsy results within 1 month after the autopsy. Most of the recent progress in autopsy diagnosis of sudden unexpected death in the adults comes from molecular biology, especially in case of sudden death without significant morphological anomalies. Searching mutations linked with functional cardiac pathology such as long-QT syndrome, Brugada syndrome or idiopathic ventricular fibrillation is now the best way in order to explain such sudden death. Moreover, new syndromes have been described by cardiologists, such as short-QT syndrome and revealed in some cases by a sudden death. Molecular biology is now needed when limits of morphological diagnosis have been reached.     

Sudden death associated with solitary intracavitary right atrial metastatic tumour deposit.

We report a case of cardiac metastasis of primary adrenal cortical carcinoma to the endocardium of the right atrium resulting in an intracavitary mass which we believe caused sudden death by blocking the tricuspid valve orifice. We have been unable to find a similar case previously reported although primary atrial myxoma is well known to be a rare cause of sudden cardiac death by the same mechanism. Modern non-invasive imaging techniques have facilitated recognition of intracavitary cardiac metastases, and with surgical intervention, when feasible, the risk of sudden cardiac death can be reduced.     

TGF-β1在SCN5A基因变异所致心源性猝死中调控作用

SCN5A基因变异所致心源性猝死发生机制尚不清楚。目前研究显示TGF-β1介导心肌纤维化以及离子通道重构调节机制的异常可能是SCN5A基因变异导致SUNDS发生的主要原因。本文就转化生长因子β1对SCN5A基因变异所致心源性猝死调控的影响机制研究进展进行综述,以期为心源性猝死法医学研究和实践提供参考。     

Association of right coronary artery hypoplasia with sudden death in an eleven-year-old child

Congenital coronary artery abnormalities are a rare but well-documented cause of sudden and unexpected death in the pediatric age group. Most reported cases involve both an aberrant origin and course of the abnormal vessel. A case of unexpected death occurring in an otherwise healthy eleven-year-old boy, who had been previously investigated for sudden collapse, is described. The major finding at autopsy was marked disparity in diameter between the coronary arteries due to diffuse hypoplasia of the right coronary artery. This case demonstrates the importance of meticulous examination of the coronary artery system in cases of sudden death in childhood so that significant reduction in luminal cross section will be adequately documented. The possible role played by this finding in the etiology of sudden death is discussed.     

Sudden death due to delayed rupture of hepatic subcapsular hematoma following blunt abdominal trauma

Blunt abdominal trauma can cause sudden, unexpected death due to injuries to internal organs. Rupture of a hepatic subcapsular hematoma is a relatively rare cause of sudden death following minor blunt abdominal trauma. Death may be delayed several days to weeks. The autopsy is an invaluable diagnostic tool that can be utilized to uncover sudden deaths due to abdominal trauma. The case of an alcoholic who died of a ruptured hepatic subcapsular hematoma is presented. The death investigation revealed that the victim had sustained blunt abdominal trauma during a fall a few days prior to death.     

Sudden death due to undiagnosed Wilms' tumor in an adult

Sudden unexpected deaths due to natural causes constitute a large number of cases encountered by the forensic pathologist. In a majority of such cases, heart disease is responsible for sudden death. Rare disease entities resulting in sudden death are occasionally encountered and may not fit the classic epidemiological profile. We present a case of sudden death due to a previously undiagnosed Wilms' tumor (WT) in an adult. The pathology of WT is discussed, as is the topic of sudden death due to previously unrecognized malignancy.     

Cardiac concussion: definition, differential diagnosis, and cases presentation and the legal ramification of a misdiagnosis

A cardiac concussion is caused by a sudden, nonpenetrating, localized impact to the chest that is theorized to result in almost simultaneous sudden death from a disruption to the conductive system. The detailed external/internal forensic examination of the body reveals no evidence of structural, pathologic, or histologic signs of trauma to the heart. A cardiac concussion is a rare and often overlooked cause of sudden death. This type of sudden death is typically seen among younger individuals participating in sports involving projectiles and, to a lesser degree, where collisions occur. Cardiac concussions are clinically, pathologically, and chemically different from a cardiac contusion. The objective of this paper will be to define cardiac concussion, differentiate between cardiac concussion and cardiac contusion, and describe the clinical and pathologic features of a 32-year-old white male who died of a cardiac concussion following a collision with a catcher during a softball game. The civil ramification of incorrectly diagnosing the manner of death in cases of death involving a cardiac concussion will also be addressed.     

类胰蛋白酶和IgE测定在过敏性猝死诊断中的应用研究

目的探讨过敏性猝死法医学鉴定的诊断方法和指标。方法采取10例正常人、9例过敏性猝死和19例其他死因（排除过敏反应、冠心病）尸体的静脉血，采用荧光酶联免疫法（Pharmacia UniCAP100过敏原定量分析仪）和酶联免疫吸附试验ELISA法分别测定血清肥大细胞类胰蛋白酶和]gE含量，采用免疫组化方法观察过敏性猝死和其他死因的肺组织中的肥大细胞类胰蛋白酶免疫组化染色。结果过敏性猝死者的血清类胰蛋白酶和IgE含量升高，与其他死因之间的差异具有显著性意义（P〈0．01），其他死因和正常人之间的差异无统计学意义（P〉0．05）；与其它死因相比，过敏性猝死肺组织中的肥大细胞类胰蛋白酶免疫组化阳性染色增强（P〈0．01）。结论过敏性猝死者血清IgE和肥大细胞类胰蛋白酶含量显著升高；过敏性猝死者肺组织中肥大细胞类胰蛋白酶染色增强。     

Unexpected perinatal death and sudden infant death syndrome (SIDS): anatomopathologic and legal aspects

This work intends to be a review of the recent histopathological findings elicited by research into sudden and unexpected perinatal death and sudden infant death syndrome (SIDS) that have dictated a novel approach to the inherent problems by pathologists, especially those entrusted with forensic medical authority. The new approach stems from the recent advances made in the understanding of neuro- and/or cardiac-conduction-system diseases present in unexpected perinatal death and SIDS. These demand that an accurate morphologic examination be performed of these structures, which modulate respiratory, cardiovascular, digestive, and arousal activities, in all victims of sudden death. A histopathologic study of an ample register of cases of victims of sudden death, either perinatally or in early infancy, has demonstrated frequent alterations both of the autonomic nervous system (especially hypoplasia of the arcuate nucleus) and of the cardiac conduction system (accessory atrioventricular pathways). The present research provides an in-depth study of the many still-controversial aspects underlying perinatal unexpected death and SIDS and is recommended for professionals working in the forensic field, whose greater insight into this problem will allow more complete medicolegal documentation.