青壮年猝死综合征与SCN5A基因突变的相关性

近几年来,国内外青壮年不明原因猝死的报道逐年增多,对其死因的界定是法医工作者深感棘手的问题。随着病因学向分子水平的深入,心脏病研究已用分子遗传学技术证实了一类“原发性心电紊乱”导致的心律失常与SCN5A突变引发的钠通道疾病有关,本文回顾了法医学中青壮年猝死综合征(SMDS)的特征及临床医学中几种疾病的基因型和表型,分析其相关性,期望为进一步研究获得一些启示。     

宝鸡市358例法医送检器官的组织病理学分析

目的 分析法医尸体检验后送检器官的病理学特征,总结此类案件的特点.方法 对宝鸡市法医送检358例尸体解剖器官标本进行常规检查并进行组织病理学诊断. 结果 358例中以青壮年男性为主,死亡原因主要为创伤、猝死、中毒.组织学能明确死亡原因250例,无典型组织学病变101例,组织自溶腐败7例.病理诊断以心血管疾病为主,其次为呼吸、神经、消化系统疾病. 结论 法医解剖具有专业特点,与病理解剖不尽相同.组织病理学检验进行死亡原因诊断时,应积极与法医沟通,以充分掌握案情、死亡经过及特定的法医病理学特征.     

A pathological study of sudden coronary death in China: report of 89 autopsy cases.

This paper reports the results of a forensic pathological study of 89 autopsy cases of Sudden Coronary Death (SCD). Of 89 cases, 63 (52 male, 11 female) were narrowed by 76-100% in cross-sectional area (XSA) of the coronary artery (CA) and 26 (22 male, 4 female), by 51-75%. Atherosclerotic plaques in the CA were serious and extensive, especially in the left anterior descending and often involved several branches of CA at the same time. Recent thrombosis was found in 18 cases, haemorrhage in plaques in 17 cases. Only 2 cases had visible acute myocardial infarction. Inflammatory cell infiltration was found in coronary plaques in 36 cases. Myocardial fibrosis or small scar formation was detected in 51 cases. It is suggested that although the incidence of coronary heart disease (CHD) is low in China, SCD is the commonest mode of Sudden Unexpected Death. The majority of SCD (52%) were middle aged males (30-49 years old). Most of the cases died suddenly during sleep without any clear precipitating factors. The characteristics of occurrence and pathological changes in the CA and myocardium and the pathological diagnosis of SCD are also analysed and discussed.     

Sudden cardiac death following psychoemotional stress

Sudden death from cardiac arrest is described, which occurred after a minor accident. Morphologically, a coronary change was found in the sense of "juvenile coronary atherosclerosis" in connection with intramural bleeding postmortem. As there were no injuries in connection with the accident but psychoemotional stress had occurred, it is concluded that affective resonance resulting from the accident initiated the death. The pathological and pathophysiological relationships are discussed.     

97例心性猝死的法医病理学分析

目的探讨心性猝死（SCD）的特点、病理基础及致死因素和诱因等。方法对本系2002年12月至2006年12月期间，所作450例法医病理检案的97例心性猝死案例进行分析研究。结果97例SCD患者中，冠心痛猝死38例，心肌炎23例，心肌痛16例，高血压性心脏病12例，主动脉瘤破裂4例，肺栓塞4例。结论SCD病程短骤、凶险，以老年男性多见，冠心病占首位。由于猝死的因素繁多，因此对猝死事件的法医学鉴定要根据其发生特征和变化规律，作出客观、全面、准确的签定结论。     

178例心源性猝死法医组织病理学诊断分析

目的探讨心源性猝死(SCD)的病理特点与鉴别要点。方法对四川华西法医学鉴定中心2000—2005年尸检出的178例SCD死亡案例进行回顾性分析,主要对其病因、年龄、诱因及病理改变进行分析。结果本组资料显示冠心病、心传导系统病变、心肌炎、心肌病等在SCD中占有较大比例。冠心病猝死是中老年人SCD的最主要原因,青壮年人SCD的病因以非冠心病为主。如传导系统病变、心肌炎、心肌病。在儿童的SCD中先天性心脏病、传导系统病变及心肌炎占主导地位。结论不同的病因,其病理特点不同,其病理变化是法医学鉴定的主要依据。     

The importance of biochemical studies for practical forensic-medical expert examination

Sudden death along with differential diagnosis of deaths from coronary heart disease and alcoholic cardiomyopathy is a challenging problem in practical forensic medicine. Relevant investigations demonstrated the possibility to address it using a battery of biochemical methods, such as measurement of blood glucose level in heart cavities, lactate dehydrogenase activity in myocardium, etc.     

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 caused by malignant testicular tumors

Sudden unexpected death of apparent healthy young males due to malignant tumours are extremely rare in forensic autopsy material. We report on three such cases dying of pulmonary embolism caused by metastazing tumour of the testis. In each subject the tumour was localized to the right testis and consisted of two types of tumour tissue: Seminoma and embryonic carcinoma, the latter of which was always the metastazing one. Each of the cases represent different aspects of forensic medicine. In the first subject the tumour had remained undiagnosed in a recent medical examination. The second one underwent surgery because of acute abdomen and died intraoperatively and the third one died suddenly during antibiotic treatment, because the tumour had been mistakenly diagnosed as orchitis.     

Incidental myocardial infarction in Ehlers-Danlos syndrome type IV?

Ehlers-Danlos Syndrome Type IV is an illness that often leads to premature death due to arterial rupture or dissection and is characterized by very fragile connective tissue. This report documents the death of a 30-year-old man with Ehlers-Danlos Syndrome Type IV from myocardial rupture and cardiac tamponade following a myocardial infarction. We believe that Ehlers-Danlos Syndrome Type IV contributed to the coronary atherosclerosis and myocardial rupture in this young man and that this disease led indirectly to his death by myocardial infarction, an unusual cause of death in this syndrome.     

Forensic medical specificity of death in atypical sexual behavior: asphyxiophilia, autoerotism

The diagnosis of death of autoerotic asphyxia has not been virtually stated by Russian forensic medical expert. All such cases were interpreted as mechanical asphyxia entailing suicide, and "accidental" or "fatal" death. The authors observed, during the recent 5 years, 10 lethal cases in different-type autoerotic practice. Strangulation asphyxia was the death cause in 7 cases. Compression asphyxia, inhaling of glue vapor and electric shock caused death, each in one case. Death of asphyxia seizes to be exceptional; it is rather a regular phenomenon in the present-day life, which needs a proper research from 2 standpoints--etiopathogenesis, and forensic medical diagnosis.     

Postmortem Skeletal Survey Practice in Pediatric Forensic Autopsies: A National Survey*

Abstract: Recommendations for the evaluation of an unexplained death in infancy include a postmortem skeletal survey (PMSS) to exclude skeletal trauma. Objectives of this study were to assess adherence to these recommendations in forensic autopsies in children equal to or less than 36 months of age, and what factors influence the use or nonuse of the PMSS. We surveyed pathologists who were members of the American Academy of Forensic Sciences. The survey included practice characteristics about where, when, and how PMSS were done. Nearly all respondents (99.6%) indicated they performed PMSS at least some of the time; however, almost a third did not use PMSS for all suspected Sudden Infant Death Syndrome (SIDS), abuse, unsafe sleep, or undetermined causes of death. Despite evidence that “babygrams” are inappropriate in a SIDS workup, 30% of pathologists use them preferentially. Despite SIDS being a diagnosis of exclusion that requires a PMSS, almost 10% of pathologists do not order a PMSS. Future research is necessary to reduce barriers to this important component of the pediatric forensic autopsy.     

婴儿猝死综合征的研究现状及其法医学检验

婴儿猝死综合征(dudden infant death s yndrome,SIDS)一直是法医学和儿科学领域的研究热点。相对于北美、欧洲、澳洲以及日本等地对SIDS广泛深入的研究,来自中国的报道相对较少。本文通过总结文献,介绍SIDS的发展历史、研究现状和新的发展趋势,并结合2004年各国学者在美国圣地亚哥公布的SIDS分型,讨论实际检案中需注意的问题以及推进其调查研究的可行性。     

损伤伴心血管系统疾病死亡42例法医病理学研究

目的探讨心血管系统疾病伴外伤死亡案例法医病理学特点,并从伤病的角度揭示两者之间的联系。方法42例心血管系统疾病伴损伤死亡案例均接受系统病理学解剖和组织学观察,且死因明确。结果42例中40岁以上者占到64.28%,男性较女性死者多。擦伤和挫伤在损伤中比例最大共占到80.95%,冠心病和高血压病死亡者各占45.24%、16.67%。损伤和疾病共存死亡案例共20例。结论在死因分析中年龄、性别、损伤类型、疾病分布有其规律性,死者中年龄偏老年化,损伤多为钝器、摔跌所致擦伤、挫伤。疾病中冠心病、高血压为最多。损伤和疾病对死因共同起作用的案例主。     

Myocardial sarcoidosis in forensic medicine

Sudden death is the most common manifestation of myocardial sarcoidosis, which is often clinically silent. The disease is rarely encountered in forensic medicine, but the diagnosis is important because it may change the interpretation of the manner of death and thus have insurance implications. Six cases of myocardial sarcoidosis diagnosed at autopsy are reported, and the significance of the findings is discussed.     

Histologic findings in the lung in sudden infant death

The lungs of 79 children who had died between the ages of 1 week and 2 years old were histologically examined. 59 of these children could be categorized as cases of Sudden Infant Death because of the history and postmortem findings. In the remaining 20 cases a definite cause of death could be established. This is the same collective on which the histological investigations of the lymphatic tissue has been carried out. Morphological changes which are typical for a virus pneumonia were found in a substantially higher frequency in the cases of Sudden Infant Death than in the control cases. The validity of these findings and their possible significance for the cause of death are discussed.     

Digoxin-like immunoreactive substance in postmortem blood of infants and children

A digoxin-like immunoreactive substance (DLIS) has been reported in the serum of infants not receiving digoxin. This study was undertaken to determine if DLIS is present in the postmortem blood and tissues of infants or children and whether the endogenous substance could interfere with forensic toxicological analysis in suspected overdose. Ninety blood specimens taken from the heart at autopsy of children or infants were screened for DLIS using commercial radioimmunoassay kits. The average age at death in these cases was 8.6 months, the median age was 2 months. DLIS equivalent to 0.25 to 2.0 ng/mL digoxin was found in one third of the cases. The incidence of positive findings was 5/6 stillborns, 10/45 Sudden Infant Death Syndrome (SIDS), 10/15 deaths as a result of infection, 4/7 homicides, 1/8 deaths caused by congenital defects, and 0/9 accidental deaths. The body distribution of DLIS was investigated and highest levels were found in the liver. Findings of DLIS in blood were correlated with renal failure, (elevated vitreous urea nitrogen), electrolyte imbalance, and liver trauma. Apparent concentrations were in the equivalent therapeutic range of digoxin and would not be confused with accidental or intentional overdose with digoxin.     

Impact of Myocardial Infarction and Abnormalities of Cardiac Conduction System on Sudden Cardiac DeathCSCD

Sudden cardiac death (SCD), most commonly seen in coronary heart disease, is a kind of sudden death caused by series of cardiac parameters, which usually combines with myocardial infarction. However, some SCDs (including early myocardial infarction) happen suddenly and cause death in a very short time. In these circumstances, typical morphological changes are lack in macroscopic or microscopic fields, which make such SCDs become the emphasis and difficulty in the present research. SCD caused by myocardial infarction and abnormalities of cardiac conduction system (CCS) is related to atherosclerosis of coronary artery closely. This paper reviews cardiac dysfunction caused by myocardial infarction and diseases of CCS from morphology and molecular biology, and explores potential relationship between them. This paper aims to provide clues to the mechanism of myocardial infarction related sudden death and possible assistance for forensic diagnosis of SCD. © 2017 by the Editorial Department of Journal of Forensic Medicine.