云南363例猝死案例的法医病理学分析

目的研究云南猝死(sudden death,SD)的流行病学及病理学特点,为猝死的防治和法医学鉴定提供科学依据。方法收集昆明医科大学司法鉴定中心2009—2017年尸体检验的363例猝死案例,回顾性分析其性别、年龄、发病到死亡时间、好发季节、死亡原因及诱因等猝死相关因素。结果猝死者男性多于女性,≥35~55岁年龄段为猝死高峰,发病后6h内死亡率较高,各季节死亡人数从高到低分别为春季、夏季、冬季、秋季。导致猝死的前十位死亡原因依次为冠心病、不明原因猝死(sudden unexplained death,SUD)、脑出血、急性出血坏死性胰腺炎、主动脉夹层破裂、心肌病、肺炎、肺动脉血栓栓塞、羊水栓塞、过敏。运动,输液、手术、药物以及轻微损伤是冠心病猝死最常见的发病诱因,意识障碍或昏迷、胸痛或胸闷以及腹痛是冠心病猝死最常见的死亡前症状。结论中年男性猝死最常见,是猝死防治的重点人群。在法医学鉴定和猝死的防治中应对不明原因猝死给予重视。     

云南不明原因猝死高发地区汉族人群易感基因变异筛查

目的筛查云南不明原因猝死高发地区汉族人群的心脏疾病易感基因变异。方法采集96例云南不明原因猝死高发地区汉族村民(病区组)和183例邻村健康村民(对照组)的外周静脉血,提取基因组DNA,使用基质辅助激光解析电离时间飞行质谱技术(MALDI-TOF-MS)对19个心脏疾病相关基因的35个单核苷酸变异位点进行基因分型。采用SPSS17.0软件分析数据,并通过蛋白质功能预测软件PolyPhen-2、SIFT和MutationTaster对具有统计学差异的变异位点进行致病性预测。使用十二导联心电图机对所有个体进行心电图检测。结果 AKAP9(rs146797353,c.3827GA,p.R1276Q)、AKAP9(rs73407505,c.4199TC,p.M1400T)和RNF207(rs201773865,c.1616GA,p.R539H)的等位基因频率及基因型频率在病区组与对照组之间具有统计学差异,且AKAP9(rs146797353)、AKAP9(rs73407505)在病区组中的等位基因频率及基因型频率均高于对照组。蛋白功能预测软件SIFT对R1276Q预测结果为影响蛋白质功能,SIFT和MutationTaster对R539H预测结果为可致病性。病区组中检出ST-T改变、T波异常、传导阻滞等异常心电图改变且频率高于对照组。结论 YNSUD高发地区汉族人群的心脏电生理异常可能是其发病的易感因素。YNSUD高发地区汉族人群中尚未发现明确的可致病性心脏疾病基因的可致病性变异,YNSUD在云南汉族人群高发的原因有待进一步研究。     

81例不明原因猝死法医学鉴定分析

目的总结不明原因猝死案例的流行病学及法医病理检验特点,为探明其死因提供依据和线索。方法回顾分析发生于云南省的81例不明原因猝死案例的年龄、性别、死亡时状态等流行病学特征以及解剖检验和组织学检验结果。结果 81例不明原因猝死中7例为聚集性不明原因猝死,74例为散发性不明原因猝死。聚集性不明原因猝死发生具有时间、空间和家庭聚集性,死亡时清醒状态较多。散发性不明原因猝死以男性较多见,死亡时以睡眠状态居多。聚集性不明原因猝死病理改变以心肌炎为主,同一家庭内死亡案例间病变可互不相同。散发性不明原因猝死常见的心脏病变依次为心肌脂肪浸润、心肌间质水肿、心肌纤维断裂等非特异性病变和心肌间质局灶性炎性细胞浸润。结论聚集性不明原因猝死符合云南不明原因猝死的特征,其病因可能与季节、环境、遗传等多种因素有关。散发性不明原因猝死大多数具有青壮年猝死综合征的特征。     

浅析青壮年猝死综合征的法医学鉴定

正青壮年猝死综合征是指青壮年男性原因不明的突然死亡,在法医实践中并不罕见,但其发生原因及死亡机制尚无统一的认识。近年来,我国也有多例这类死亡的报道。笔者根据自己的法医学经验,参考一些法医学资料,对青壮年猝死综合证发生的原因、病理特点、发病的临床表现以及法医学鉴定时应注意的事项分析如下,以供同道参考。     

夜间不明原因猝死综合征和阻塞性睡眠呼吸暂停低通气综合征关系的研究进展

夜间不明原因猝死综合征一直是法医学研究的难点,近年来分子遗传学的发展促进了其病因学研究,但仍有大部分案例病因不明。睡眠呼吸暂停综合征是一种常见的睡眠障碍性疾病,其中以阻塞性睡眠呼吸暂停低通气综合征最为常见。近年来,国内外研究表明阻塞性睡眠呼吸暂停低通气综合征与心血管疾病的发生密切相关,可以导致心律失常甚至引起猝死。本文主要综述了夜间不明原因猝死综合征与阻塞性睡眠呼吸暂停低通气综合征之间的关系,从而为不明原因猝死的发病机制提供新的思路。     

26例心脏传导系统发育异常猝死的病理学分析

目的研究心脏传导系统发育异常致猝死的病理变化。方法排除外伤、中毒及疾病所致死亡,收集26例不明原因猝死者心脏,采用作者创建的心脏传导系统取材法,常规切片、HE染色和Masson三色染色,光镜观察。结果 26例中见心传导系统有发育不全、结构异常、细胞或组织结构移位和窦房结纤维垫等病变,9例同时具有2~3种类型。16~30岁共21例,占全部样本的80.8%。结论心脏传导系统发育异常可能是不明原因青壮年猝死的重要原因之一。     

心脏性猝死的法医学研究进展

猝死是一类特殊的疾病死亡形式,严重威胁着社区人群的生命安全。心脏性猝死(sudden cardiac death,SCD)是最常见的猝死类型,一直以来是法医病理学鉴定和研究的重要内容之一。本文从流行病学、形态学、分子病理学、虚拟解剖学等角度综述了SCD的法医学研究进展,以期为此类猝死的形态学鉴定、死亡原因诊断及其综合防治提供借鉴。     

中国汉族人群不明原因猝死与NOS1AP基因多态性的相关性

目的研究日常活动中不明原因猝死(sudden unexpected death,SUD)者NOS1AP基因的单核苷酸多态性。方法收集60例一般日常活动中SUD病例心血样本作为SUD组,另外随机抽取80例无关个体的外周血样本作为对照组,提取基因组DNA,用特异性引物对NOS1AP部分SNP位点(rs10494366、rs10918859、rs12143842、rs12742393、rs3751284、rs348624)进行PCR扩增和直接测序,计算等位基因频率和基因型频率,并分析各SNP位点在SUD组与对照组之间的差异性。结果 NOS1AP第6外显子区域的rs3751284位点的等位基因频率和基因型频率在两组人群中的差异均有统计学意义(P0.05)。rs3751284位点的最小等位基因的频率在SUD组为0.325,在对照组为0.475。结论 rs3751284位点可能是SUD的易感基因位点。     

中国汉族人群不明原因猝死与NOSlAP基因多态性的相关性

目的研究日常活动中不明原因猝死（suddenunexpecteddeath,SUD）者NOSlAP基因的单核苷酸多态性。方法收集60例一般日常活动中SUD病例心血样本作为SUD组,另外随机抽取80例无关个体的外周血样本作为对照组,提取基因组DNA,用特异性引物对NOSlAP部分SNP位点（rsl0494366、rsl0918859、FSl2143842、rsl2742393、rs3751284、rs348624）进行PCR扩增和直接测序,计算等位基因频率和基因型频率．并分析各SNP位点在SUD组与对照组之间的差异性。结果NOSlAP第6外显子区域的rs3751284位点的等位基因频率和基因型频率在两组人群中的差异均有统计学意义（P〈0．05）。rs3751284位点的最小等位基因的频率在SUD组为0．325,在对照组为0．475。结论rs3751284位点可能是SUD的易感基因位点。     

云南猝死综合征的流行特征及其研究进展

云南猝死综合征(Yunnan sudden death syndrome,YSDS)是一种每年6~9月份发生在云南省中部和西北部海拔1815~2225m的山区、半山区,以突然发病并死亡为特征且病因不明的疾病。该病以青壮年为主,女性多于男性,傈僳族、彝族和苗族发病率较高,具有家庭聚集性,临床表现多样,病理学特点缺乏特异性,发病原因与卫生、经济条件、硒铬微量元素缺乏、柯萨奇B组病毒感染、食用蘑菇及当地特殊地质条件相关。本文综述了YSDS的流行病学特征、临床表现、病理性特点、病因研究及假说,以期对YSDS进一步研究提供线索。     

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。     

Travel, time zones, and sudden cardiac death. Emporiatric pathology

In an 11-year retrospective study of coroner's autopsies on the Hawaiian island of Kauai, it was found that an unusual and apparently unique subset of travelers died suddenly. Death was caused by coronary arteriosclerosis, was characterized by acute coronary changes, and occurred in a group younger than the usual age for sudden cardiac death. Visitors with two-vessel disease had an incidence of sudden death nearly four times that of Kauaians (p less than 0.02), with a ninefold increase of coronary thrombosis (p less than 0.001), a sixfold prevalence of old myocardial infarcts (p less than 0.001), and three times the prevalence of cardiomegaly (p less than 0.001). The circadian pattern of these deaths was different from that previously described in acute myocardial infarction or sudden death, with the number of incidents rising steadily through the day in contrast to the morning peak described in previously published series. The syndrome was expressed in decedents with two-vessel coronary disease either with acute coronary artery lesions--thrombosis, hemorrhage in a plaque, or ruptured coronary artery--or no lesions, presumably spasm. Underlying chronic processes included enlarged heart or old myocardial infarct, which both occurred with a significantly greater incidence in travelers than in local residents, and in a totally different pattern from that occurring in subjects with three-vessel disease. It is postulated that the syndrome is caused by stress related to travel and time zone changes.     

Cardiovascular Conditions and the Evaluation of the Heart in Pregnancy‐Associated Autopsies

Abstract: Pregnancy‐associated death is defined as the death of a woman from any cause during pregnancy or in the year after delivery. This review concentrates on cardiac conditions that may result in pregnancy‐associated death including, but not limited to, acute myocardial infarction, endocarditis, peripartum cardiomyopathy, and prolonged QT syndrome. Lethal vascular conditions may also occur involving arterial dissection and thromboembolism, on occasion exacerbated by hypercoagulability, and altered hormonal and physiologic states. The autopsy evaluation of these patients includes a careful assessment of the medical history particularly for prior pregnancy‐related conditions, fetal loss, and episodes of unexplained collapse. A family history of sudden death at an early age may be significant. At autopsy, evaluation for underlying syndromes such as Marfan, or evidence of intravenous narcotism should be undertaken. Autopsy examination involves careful dissection of the heart and vessels with consideration of conduction tract studies and possible genetic evaluation for prolonged QT syndrome.     

Forensic medicine aspects of fatal coronary insufficiency with normal coronary arteries

Clinical experiences give examples for the existence of various courses of anginal symptomatology even with cases of sudden heart death demonstrating angiographically normal coronary arteries. Pathogenetically may be considered spasms of regular or little changed coronary arteries, coronary muscle bridges and acute arrhythmias. In cases of recurrent myocardial ischemias an interstitial fibrosis and endocardial fibrosis can be proved histologically in the myocardial supply area. However an acute coronary insufficiency based on rheological and metabolic etiology cannot be found with morphological methods. The results are discussed, considering forensic aspects in cases of competitive causes of death.     

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.     

猝死与冠状动脉肌桥

冠状动脉肌桥临床上的表现,血管造影,诊断以及治疗得到医生的普遍认可,但在导致猝死尚还没有引起法医同仁的注意。通过复习相关的文献。本文主要对冠状动脉肌桥的研究状况、致死机制以及由此引起猝死的病理特点等进行阐述。     

冠心病猝死心肌mcl-1蛋白检测及其意义

目的观察冠心病猝死(SCD)心肌mcl-1蛋白产物,探讨其免疫组化检测及其对SCD诊断的意义。方法运用免疫组织化学SABC法,对46例SCD和40例非猝死心肌(有冠心病和无冠心病)中mcl-1蛋白产物进行检测和观察,并比较其差异。结果(1)自症状出现至死亡,时间超过30min的SCD(36例),其心肌组织均出现mcl-1蛋白阳性染色;(2)自症状出现至死亡,时间短于30min的SCD(10例),其心肌组织mcl-1蛋白呈弱阳性染色;(3)冠心病非猝死样本(20例),4例心肌出现微弱的mcl-1蛋白阳性染色,无冠心病非猝死样本(20例)几乎没有出现阳性染色。结论心肌mcl-1蛋白的免疫组化检测可诊断自症状出现至死亡时间超过30min的SCD。     

An Autopsy Case of Sudden Unexplained Death Caused by Malaria*

Abstract: Sudden unexplained deaths, especially those unwitnessed can lead to forensic issues and would necessitate the need for a meticulous and complete postmortem examination including ancillary investigations to discover the cause of death. We herein report a case of sudden unexplained death caused by malaria in an apparently healthy individual. This fatal case is presented to remind the forensic pathologist of the possibility of malaria as a cause of sudden unexplained death in malaria‐endemic regions. In the present case, histopathological examination demonstrated the presence of parasitized red blood cells with malarial pigment in the blood capillaries in the brain, myocardium, pericardium, lungs, kidneys, liver, and the spleen. Cerebral malaria with acute renal insufficiency or pulmonary edema with an acute respiratory distress syndrome might have been the cause of death.     

Sudden unexpected death associated with atlanto-occipital fusion

A case of sudden, unexplained death in a 24-year-old male is presented. There were two previous spells of loss of consciousness. There was remarkable narrowing of the foramen magnum with indentation of the medulla. The atlas was partly fused with the occipital bone and a portion of abnormal bone compromised the foramen magnum from anterior reducing its anteroposterior dimensions to 16 mm (n 25-35 mm). Close clinical examination of this area in patients with acute intermittent symptomatology, or at the time of autopsy in cases of sudden unexpected death is stressed.     

Sudden death and anomalous origin of the coronary arteries from the aorta. A case report and review

Based on a case report of sudden death in a young boy, this paper reviews the available information concerning the various combinations of anomalous origins of coronary arteries and associated sudden death. Left coronary arteries arising from the right sinus of Valsalva and passing between the aorta and pulmonary arteries are often associated with sudden death and myocardial ischemia in young people. Although right coronary arteries originating from the left sinus of Valsalva and passing between the aorta and pulmonary artery are less frequently associated with symptoms, this condition may be associated with sudden death. The incidence of symptoms associated with other anomalous origins is also discussed.