全外显子组测序对肥厚型心肌病猝死者的基因分析

目的在全外显子组水平分析1例肥厚型心肌病(hypertrophic cardiomyopathy,HCM)猝死病例的相关致病性基因突变。方法对1例具有HCM病理学特征的猝死病例样本,利用Illumina~Hi Seq 2500平台进行全外显子组测序(whole exome sequencing,WES)。测序数据分析以hg19为参照序列,筛选可疑的单核苷酸变异位点,通过PhyloP、PolyPhen-2、SIFT等软件进行突变的保守性和功能分析。结果经过筛选,发现该病例的MYBPC3基因发生C719R杂合突变。结论利用二代测序技术进行全外显子组水平的分子解剖(基因突变检测和分析),有助于明确HCM的分子机制,并为死因分析提供新的方法和思路。     

Death related to aortic coarctation in a young female during sexual intercourse

Coarctation of the aorta (CA) is diagnosed mainly in pediatric patients, and therapy is conservative if asymptomatic, but surgical treatment is required if advanced arterial hypertension is present. Moderate to severe forms contraindicate any type of physical activity requiring cardiac effort. Here, we describe the first documented death of an apparently healthy 35-year-old woman because of cardiac tamponade by rupture of an aortic aneurysm, possibly related to congenital CA, prolonged use of oxymetazoline hydrochloride, and physical and/or emotional stress during sexual activity. Our patient was asymptomatic for classical CA symptoms. The patient's breathing difficulties likely in hindsight were due not so much to nasal congestion, but rather to an ineffective oxygenation of the blood from the abnormal heart. In an attempt to treat the "nasal disease," the patient ingested chronic and excessive doses of decongestants, aggravating her fatal disease. The danger of inhaling large doses of nasal decongestants without an appropriate medical indication is highlighted here.     

Sudden death owing to right atrial hemangioma

Primary cardiac tumors are rare, with an autopsy incidence of 0.03%. Seventy-nine percent to 85% of primary cardiac tumors are benign, and of the benign tumors, cardiac hemangiomas account for 5-10% of cases. Most cardiac hemangiomas are asymptomatic and are discovered incidentally at autopsy, or by echocardiography, computerized tomography, or magnetic resonance imaging. We report a case of sudden death owing to cardiac hemangioma in a 22-year-old woman who collapsed while shopping and became unresponsive. The autopsy revealed a hemorrhagic mass on the surface of the right atrium which was infiltrating and replacing the wall of the right atrium; histopathological examination confirmed the tumor was a cavernous hemangioma. Fewer than 20 cases of right atrial cavernous hemangiomas have been reported in English literature, emphasizing the rarity of our case.     

Diagnostic dilemma of sudden deaths due to acute hemorrhagic pancreatitis

Sudden death due to acute pancreatitis has been rarely determined. A review of 3305 autopsies performed between 1991 and 2001 at the Council of Forensic Medicine found 12 cases (0.36%) with sudden death due to acute hemorrhagic pancreatitis without symptoms. A history of chronic alcohol ingestion was obtained from family in four cases (33%), and no stones were found in the bile ducts or in the gall bladders. During the autopsies, hemorrhage and edema were localized on the head of the pancreas in three cases and the whole pancreas in nine cases. The most common extrapancreatic pathology was found in the lung including pulmonary edema, alveolar hemorrhage, pleural effusion, and pulmonary congestion. There was no correlation between pulmonary and pancreatic damage. It is suggested that the forensic pathologists who are dealing with sudden unexpected death must not ignore the examination of pancreatic and extrapancreatic regions to avoid missing acute pancreatitis.     

试论突发公共事件管理应对能力

突发公共事件严重威胁公众的生命健康和财产安全,影响经济发展和社会稳定。现代政府必须全面增强应对突发公共事件的能力,当危机爆发时尽量减少危机带来的损失,将危机消灭在萌芽状态。我国政府在长期应对突发公共事件的过程中积累了一些经验,但也存在许多问题和不足,须从预警、决策、社会力量动员等九个方面提高应对突发公共事件的能力。     

Sudden Death Secondary to an Undiagnosed B‐Cell Lymphoma of the Hypopharynx and Infiltration of the Inferior Constrictor Muscle

The aim of this presentation was to share an uncommon form of sudden death, suffered by a 64‐year‐old woman, due to a mechanical obstruction of hypopharynx by an undiagnosed B‐cell lymphoma, infiltrating the inferior pharyngeal constrictor muscle. A forensic approach by means of scene investigation, circumstantial data collection, autopsy, and histological and toxicological investigations led to conclude that the cause of death was asphyxia, correlated with B‐cell lymphoma of the hypopharynx. The autopsy examination highlighted the presence of a wall thickening, infiltrating, and projecting into the hypopharynx lumen. The histological analysis showed the essential finding of a B‐cell lymphoma of the hypopharynx, diffusely infiltrating the inferior pharyngeal constrictor muscle. To conclude, this case demonstrates once more that in the absence of specific data, a thorough forensic investigation including autopsy, histological examination, and circumstantial data collection is mandatory to reach a correct cause of death.     

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。     

RyR2相关心脏性猝死的研究进展

雷诺定受体2(ryanodine receptor 2,RyR2)是心肌细胞肌浆网上主要的钙释放通道,主要参与心肌的兴奋收缩耦联过程,其基因突变及调控异常可导致心肌舒张期钙漏引起心律失常,甚至猝死。本文重点综述RyR2基因突变及调控异常引起心脏性猝死的机制,并对以后的研究提出建议,旨在为心脏性猝死的法医学诊断提供一种新的思路。     

论灵感思维与刑事侦查

灵感思维是指人脑对某个问题百思不解而在内部或外界因素的触发下突然顿悟的一种思维形式。灵感思维具有偶然性与必然性的统一、久思性与突发性的统一、潜意识与显意识的统一、模糊性与明晰性的统一、单一性与综合性的统一等哲学特征。灵感思维在刑事侦查中有着十分重要作用,可以突破侦查僵局,可以侦破冷案,可以调整或改变审讯方案。刑侦人员只要努力培养和提高侦查灵感思维能力,就可不断提高破案效率。