Mechanisms of unexpected death in tuberous sclerosis

Tuberous sclerosis complex is a protean autosomal dominant disorder characterized by multifocal tissue lesions arising from defects in cellular migration, proliferation, and differentiation. It has an association with sudden death. In the current study, review of all cases of sudden death due to tuberous sclerosis was undertaken at the Forensic Science Centre in Adelaide, Australia from 1991 to 2001, in addition to an analysis of cases from the literature. There were two local cases where unexpected death had occurred in individuals with known tuberous sclerosis, involving a 31-year-old male (epilepsy), and a 24-year-old female (massive hemorrhage into a renal angiomyolipoma). Fatal mechanisms in cases of tuberous sclerosis may be associated with underlying cardiovascular, renal and cerebral abnormalities. Sudden death may be due to cardiac arrhythmia, epilepsy, and intra-tumoral hemorrhage with additional complications including cardiac outflow obstruction, obstructive hydrocephalus, aneurysm rupture, and spontaneous pneumothorax. An awareness of the highly variable tissue manifestations of tuberous sclerosis and the mechanisms that may be responsible for death is necessary to establish correctly the diagnosis in occult cases (possibly with molecular confirmation), and to chart accurately organ changes in individuals with established disease.     

Sudden unexpected death in epilepsy: a retrospective study

Patients with epilepsy have a mortality rate higher than that of the general population; sudden unexpected death represents a significant category of mortality in these patients. The precise frequency of occurrence of sudden unexpected death in epilepsy (SUDEP) is not well defined, with a range of 1 in 370 to 1100 in the general epileptic population. A major difficulty with incidence studies is the continued reluctance in using the term SUDEP as a cause of death, making reliance solely on death certificates inconsistent and incomplete. Knowledge about SUDEP remains limited, as no single common risk factor has yet been identified, although predisposing conditions have been suggested. The purpose of this study is to review the association between several clinical variables and SUDEP to elucidate risk factors. The characteristics of the 67 cases in this series correlate with published findings in previous studies. Attributes that may be used to define an at-risk group of epileptics include age less than 40 years, male gender, long history of seizure disorder, undermedication or poorly controlled seizure activity, and mental or physical stress. Education of physicians as to the existence of SUDEP and risk factors is imperative in improving patient education and reduction in mortality.     

Acute pancreatitis presenting as sudden, unexpected death: an autopsy-based study of 27 cases

Acute pancreatitis represents a spectrum of disease, ranging from a mild, transitory illness to a severe, rapidly progressive hemorrhagic form, with massive necrosis and mortality rates of up to 24%. The reported incidence of acute pancreatitis diagnosed first at clinicopathologic autopsy ranges between 30% and 42%. To better describe outpatient fatalities due to acute pancreatitis that present as sudden, unexpected death, we retrospectively reviewed the autopsy files at the Institute of Legal Medicine, University of Hamburg, Germany, from 2000-2004. Individual cases were analyzed for sex, age, race, circumstances of death, social background of the deceased and previous medical history, seasonal occurrence of the disease, blood alcohol concentration at the time of death, body mass index, autopsy findings, histopathology, and etiology of acute pancreatitis. Among the 6178 autopsies carried out during the 5-year period evaluated, there were 27 cases of acute pancreatitis that presented as sudden, unexpected death. In all cases, the diagnosis was first made at autopsy. The male:female ratio was 1.7:1 and the mean age was 52 years (range, 30-91 years). Etiologies of acute pancreatitis included alcohol (n=19), gall stones (n=2), other identified etiologic factors (n=3), and idiopathic (n=3). Complications of acute pancreatitis included lung edema and/or acute respiratory distress syndrome, peritonitis, disseminated intravascular coagulation, and sepsis. At least 20 subjects (74%) had lived isolated, with no social contacts. Contrary to the clinical observations of a clear seasonal variation in the onset of acute pancreatitis, we found no correlation between death due to acute pancreatitis and a specific month or season. Many prior studies have suggested that the majority of deaths in severe acute pancreatitis occur in the late phase of the disease as a result of pancreatic sepsis. Conversely, in the present study, the majority of affected individuals died during the very early phase of the disease. While gallstones represent the main etiologic factor in most larger clinical series, biliary etiology seems to play only a minor role in outpatient deaths undergoing medicolegal autopsies. Data derived from medicolegal autopsy studies should be included in future population-based studies of acute pancreatitis.     

DCM猝死与晚期DCM心肌Cx43表达的比较

目的观察和探讨扩张型心肌病(DCM)猝死与晚期DCM心肌中心肌连接蛋白(connexin,Cx)43表达差异及其意义。方法收集13例DCM猝死者心脏(A组)和5例晚期DCM患者行心脏移植手术切除的心脏(B组),运用免疫组化染色和图像分析技术,检测心肌Cx43阳性表达产物的平均光密度(OD)值和面积(S)值,比较两组间和左右心室间的差异。结果 Cx43阳性表达在A组明显减少,分布不均;在B组表达清晰,主要位于闰盘处。A组与B组心肌Cx43的S值之间的差异有统计学意义(P0.01),而各组左、右心室肌间相比,差异无统计学意义(P0.05);心肌Cx43的OD值,在A组与B组之间,以及各组左、右心室肌间差异均无统计学意义(P0.05)。结论 DCM猝死心肌Cx43表达较晚期DCM心肌明显减少,这种变化可能与DCM患者因心律失常发生猝死有关。     

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。     

眼眶骨折的法医学鉴定研究(附50例分析)

目的　研究眼眶骨折的法医学特点。方法　从 3 653例损伤程度的法医学鉴定中筛选出涉及眼眶骨折的案例 ,分成 3组 :Ⅰ组 :爆裂性骨折 ,眼眶骨折而眶缘无骨折 ;Ⅱ组 :直接骨折 ,合并眶缘骨折 ;Ⅲ组 :复合骨折 ,上述两种骨折兼而有之。结果　涉及眶骨骨折 50例。Ⅰ组 2 6例 ,占 52 % ;Ⅱ组 1 9例 ,占 3 8% ;Ⅲ组 5例 ,占 1 0 %。爆裂性骨折以内、下壁多见 ,占 96% ,致伤物以拳脚多见 ,占 78% ,视力和眼球结构损伤较轻。直接骨折以外壁多见 ,占 56% ,致伤物以钝性工具多见占 63 % ,视力和眼球结构损伤较重。复合骨折各壁均可发生。结论　爆裂骨折损伤程度轻于直接骨折和复合骨折 ,容易引起误诊。     

眼眶骨折的法医学鉴定研究(附50例分析)

目的 研究眼眶骨折的法医特点。方法 从３６５３例损伤程度的法医学鉴定中筛选出涉及眼眶骨折的案例,分成３组：Ⅰ组：爆裂性骨折,眼眶骨折而眶缘无骨折;Ⅱ组：直接骨折,合并眶缘骨折;Ⅲ组：复合骨折,上述两种骨折兼而有之。结果 涉及眶骨骨折５０例。Ⅰ组２６例,占５２％;Ⅱ组１９例,占３８％;Ⅲ组５例,占１０％。爆裂性骨折以内、下壁多见,占９６％,致伤物以钝性工具多见占６３％,视力和眼球结构损伤较重。复合骨     

Natural death in the forensic setting: a study and approach to the autopsy

Although unexpected natural deaths comprise a large proportion of the cases seen in the forensic setting, the investigation of these cases remains a unique challenge. Some cases are straightforward; however, others require special examination and dissections, as well as the use of special dissections and ancillary studies. For the forensic investigator to accurately assign a cause and manner of death, one must be aware of the differential diagnoses, common scenarios, and typical victim. The authors reviewed all forensic cases referred to the Forensic Section of the Medical University of South Carolina over a 15-year period from January 1989-December 2003. The number of natural deaths occurring in adults (age 18 years and older) was 6932, compared with the overall number of 13,227 cases. The natural deaths were then analyzed as to autopsy findings, cause of death, cardiac versus noncardiac, age, race, and gender. Current techniques, special dissections, and ancillary studies that can assist in the classification of these deaths in the forensic setting are reviewed.     

300例心源性猝死案例的法医学鉴定分析

目的探讨心源性猝死案例的病因、诱发因素及法医病理学特点,以期为心源性猝死案件的法医病理诊断提供参考。方法收集法医病理检案中的心源性猝死案例,对其年龄、性别、死亡时间、死因、诱因及场所等流行病学特点进行回顾分析。结果 300例心源性猝死案例中男性多于女性,18~45岁发病最多;病因包括冠心病(129例),心肌病(78例),心肌炎(36例)等;应激为SCD最常见的诱发因素(157例)。结论 1应激和冠心病是心源性猝死的重要危险因素。2心源性猝死的法医学鉴定除了要进行系统的尸检及病理学检查外,还要对死者的相关资料如:基础疾病、诱因、死亡时间、死亡经过等进行全面系统的分析以明确死因。     

过敏性反应死亡法医病理学研究

目的探讨过敏性反应死亡的法医病理学特点,从而解决困扰法医学工作者对过敏性反应死后诊断的鉴定要点。方法对华西法医鉴定中心1995―2004年尸检检出的26例药物过敏性死亡案例进行回顾性分析。结果本组26例药物过敏所致死亡案例的死者年龄以31-40岁的例数最多,占了38%;26例因药物过敏所致死亡的案例中,12例为青霉素类药物过敏,为引起过敏最常见的药物;而药物使用途径引起过敏反应死亡的案例中以注射为主,共20例;以个体诊所及基层医院多发生过敏反应死亡的案例;18例在使用药物后出现典型的严重的过敏性反应的临床表现;15例为在用药后半小时内发生死亡;病理解剖可见咽喉粘膜水肿20例,其中咽喉腔阻塞大于75%2例,50￣75%5例,25～50%7例,小于25%6例,显微镜下检查嗜酸性粒细胞浸润咽喉粘膜者21例、肺组织18例;6例血清IgE检测值呈现出显著的升高。结论过敏性反应的死后诊断应结合死者的生前临床病史,死亡时间,生前临床表现,病理解剖发现及血清IgE检测值综合分析。     

过敏性反应死亡法医病理学研究

目的 探讨过敏性反应死亡的法医病理学特点，从而解决困扰法医学工作者对过敏性反应死后诊断的鉴定要点。方法 对华西法医鉴定中心1995--2004年尸检检出的26例药物过敏性死亡案例进行回顾性分析。结果 本组26例药物过敏所致死亡案例的死者年龄以31—40岁的例数最多．占了38％；26例因药物过敏所致死亡的案例中，12例为青霉素类药物过敏，为引起过敏最常见的药物；而药物使用途径引起过敏反应死亡的案例中以注射为主，共20例；以个体诊所及基层医院多发生过敏反应死亡的案例；18例在使用药物后出现典型的严重的过敏性反应的临床表现；15例为在用药后半小时内发生死亡；病理解剖可见咽喉粘膜水肿20例，其中咽喉腔阻塞大于75％2例，50．75％5例，25-50％7例，小于25％6例，显微镜下检查嗜酸性粒细胞浸润咽喉粘膜者21例、肺组织18例；6例血清IgE检测值呈现出显著的升高。结论 过敏性反应的死后诊断应结合死者的生前临床病史，死亡时间，生前临床表现，病理解剖发现及血清IgE检测值综合分析。     

Motives for maternal filicide: results from a study with female forensic patients

The objective of this study was to examine different motivational factors, leading mothers to commit neonaticidal, infanticidal or filicidal acts. This study was based on data gathered through a retrospective chart review of all filicidal women admitted to the Mid-Hudson Forensic Psychiatric Hospital in New York State (MHFPC) between 1976 and 2000 (n=57). Because our sample was drawn from MHFPC records it excludes filicidal mothers who went directly to prison. Our women were either found not competent to stand trial, or found not guilty by reason of insanity, or were convicted offenders who were seriously mentally ill and were not sent to prison. Fourteen percent committed neonaticide, meaning that they killed their child within the first day of its life; 21% killed the child after the first day but before it reached its first birthday (infanticide); and 65% committed filicide by murdering a child older than one. Two groups of women could be identified as having different motivational profiles: The neonaticidal mothers were mostly troubled by psychosis and social problems while the filicidal women were defined as severely depressed, with a history of self-directed violence and a high rate of suicide attempts following the filicidal offense.     

35例胰腺出血案例死亡原因分析

３５例胰腺出血案例死亡原因分析刘敏，吴家Ｃａｕｓｅｓｏｆｄｅａｔｈｏｆｐａｎｃｒｅａｓｈｅｍｏｒｒｈａｇｅ：３５ａｕｔｏｐｓｙｃａｓｅｓｒｅｐｏｒｔ￥ＬｉｕＭｉｎ；ＷｕＪｉａｗｅｎ（ＤｅｐａｒｍｅｎｔｏｆＦｏｒｅｎｓｉｃＰａｔｈｏｌｏｇｙ，ＷｅｓｔＣ...     

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.     

316例急死的法医学分析

对重庆地区316例急死进行分析。结果表明：男性多于女性，中青年及小于10岁的婴幼儿居多，第三季度增多，呼吸系统疾病居首位，其次为循环系统疾病，死亡场所是医院占多数。     

Serum tryptase levels in sudden infant death syndrome in forensic autopsy cases

An elevated serum tryptase concentration is considered to be a specific marker for systemic mast-cell activation, a central feature of anaphylaxis, which has been observed in some cases of sudden infant death syndrome (SIDS). However, it is still unclear whether anaphylaxis is involved in the etiology for SIDS. In the present study, we measured serum tryptase levels in 21 infants with SIDS, and 14 control infants from forensic autopsy cases by Uni-CAP TRYPTASE Fluoroenzyme immunoassay system, which detects both alpha- and beta-tryptase. The assay did not show any significant elevation of tryptase levels in the SIDS group compared with controls. Additionally, increased concentrations of tryptase were not observed in any SIDS case. Our results indicated that anaphylaxis does not seem to be involved in the etiology of SIDS.     

Evaluation of sudden death in psychiatric patients with special reference to phenothiazine therapy: forensic pathology

The investigation of sudden unexpected death in psychiatric patients and the ensuing litigation has brought to our attention many unusual features important in the evaluation of such deaths. Certain pathophysiologic mechanisms of death, rarely encountered in routine forensic science practice, may be important in determining the cause of death in psychiatric patients, especially in cases where the autopsy is unrevealing. Of particular concern is a tendency in the current literature to implicate phenothiazines as a cause of death when the death investigation and the autopsies are incomplete. Thus, based on our experience and on a review of the current literature, we have set forth factors that the forensic pathologist should consider when faced with a sudden psychiatric death. A case report illustrates these unique aspects of scene investigation and analysis of terminal events and autopsy findings.     

Sudden unexpected death in epilepsy: neuropathologic findings

Sudden unexpected death in epilepsy refers to sudden death of an individual with a clinical history of epilepsy, in whom a postmortem examination fails to uncover a gross anatomic, toxicologic, or environmental cause of death. Evidence of terminal seizure activity may not be present. One to two percent of natural deaths certified by the medicolegal death investigator are attributed to epilepsy. Detailed microscopic examination of the brain has increasingly afforded the identification of structural changes representative of epileptogenic foci. The authors present 70 cases of death attributed to sudden unexpected death in epilepsy. These cases were classified as follows: individuals who lacked a gross brain lesion, those who had a brain lesion demonstrable at autopsy, and those who lacked neuropathologic evaluation because of decomposition or because only an external examination was done. All of the subjects had a clinical history of seizures. The authors confirm that various microscopic findings, including neuronal clusters, increased perivascular oligodendroglia, gliosis, cystic gliotic lesions, decreased myelin, cerebellar Bergmann's gliosis, and folial atrophy, are present in a higher percentage of the brains of sudden unexpected death in epilepsy subjects than in the brains of age- and sex-matched control subjects.     

316例急死的法医学分析

对重庆地区316例急死进行分析。结果表明:男性多于女性,中青年及小于10岁的婴幼儿居多,第三季度增多,呼吸系统疾病居首位,其次为循环系统疾病,死亡场所是医院占多数。