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Hemoperitoneum Due to Dissection and Rupture of the Superior Mesenteric Artery in a Patient With COL3A1 Mutation. 一名 COL3A1 基因突变患者因肠系膜上动脉交叉和破裂导致的腹腔积血。
Q4 Medicine Pub Date : 2024-10-01 DOI: 10.1177/19253621241283723
Fabio Tironi, Wijesinghe Lakmali, Jayantha Herath

Introduction: Vascular Ehlers-Danlos syndrome (vEDS) is an autosomal dominant disorder that results from mutations in the collagen type III gene. It is a risk factor for medium-sized artery aneurysms, dissections, and ruptures. We report a case of hemoperitoneum due to medial dissection and rupture of the superior mesenteric artery related to vEDS. Methods: A full body CT scan and full three cavity autopsy was performed in a 47-year-old man with a history of an intermittent abdominal cramping for one week rand complex past medical history that included a sigmoid bowel perforation at age 20, and previous popliteal artery pseudoaneurysm rupture. Histology and genetic testing were performed. Results: The postmortem computed tomography and autopsy showed a significant hemoperitoneum due to a ruptured dissection of the superior mesenteric artery and branches, and multiple splanchnic artery dissections with renal and small bowel infarctions. Genetic testing revealed a heterozygous COL3A1 gene variant associated with Ehlers-Danlos syndrome. Death was attributed to hemoperitoneum due to medial dissection and rupture of the superior mesenteric artery due to arteriopathy. Discussion: The relatively young age and medical history correlate with the autopsy findings and genetic testing towards the conclusion of an arteriopathy consistent with vEDS.

简介血管性埃勒斯-丹洛斯综合征(vEDS)是一种常染色体显性遗传疾病,由 III 型胶原蛋白基因突变引起。它是中型动脉瘤、动脉夹层和破裂的危险因素。我们报告了一例与 vEDS 有关的肠系膜上动脉内侧夹层和破裂导致的腹腔积血。手术方法对一名47岁男性进行了全身CT扫描和三腔尸体解剖,该患者有一周间歇性腹部绞痛病史和复杂的既往病史,包括20岁时乙状结肠穿孔和既往腘动脉假性动脉瘤破裂。进行了组织学和基因检测。结果:死后的计算机断层扫描和尸检显示,由于肠系膜上动脉及其分支断裂、多发性脾动脉断裂以及肾脏和小肠梗死,导致严重的腹腔积血。基因检测显示,该患者的COL3A1基因为杂合型,与埃勒斯-丹洛斯综合征有关。死亡原因是内侧解剖导致的腹腔积血和肠系膜上动脉破裂引起的动脉病变。讨论:相对年轻的年龄和病史与尸检结果和基因检测结果相吻合,得出了与vEDS一致的动脉病变结论。
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引用次数: 0
Forensic Investigation of Rare Complications of Endoscopic Sinus Surgery: Two Case Reports. 内窥镜鼻窦手术罕见并发症的法医调查:两例报告
Q4 Medicine Pub Date : 2024-09-27 DOI: 10.1177/19253621241286142
Semyon S Plis, Olesya V Veselkina

This article describes two cases of rare surgical complications during functional endoscopic sinus surgery (FESS) and the resulting forensic investigations. The first case involved damage to the skull base and intracerebral artery, leading to a fatal cerebrovascular event, while the second case involved destruction of the medial orbital wall. The clinical and pathological findings are described in detail for each case. In Russia, in cases of disputes regarding medical malpractice, a commission-based expert examination is appointed by the civil court, criminal court, or investigator. This commission includes, in addition to a forensic pathologist, a practicing physician specializing in the field related to the case under consideration. Single-expert examinations for such cases are not provided; the investigation is always conducted jointly by a forensic pathologist and a clinician. It is important to investigate whether the mistake was due to preventable causes or deviations from accepted standards. This can only be done through the joint work of clinicians and forensic pathologists. These two cases are important because they demonstrate how different forensic conclusions can be for patients who undergo the same operation and experience similar severe complications. Despite the similarities, the forensic and legal outcomes were entirely different due to different reasons for the mistakes.

本文描述了两例在功能性内窥镜鼻窦手术(FESS)中出现的罕见手术并发症,以及由此引发的法医调查。第一例涉及颅底和脑内动脉损伤,导致致命的脑血管事件;第二例涉及眼眶内侧壁破坏。本文详细介绍了每个病例的临床和病理结果。在俄罗斯,在医疗事故纠纷案件中,民事法庭、刑事法庭或调查人员会指定一个以委员会为基础的专家鉴定。除法医病理学家外,该委员会还包括一名与审理案件相关领域的专业执业医师。此类案件不提供单一专家检查;调查始终由一名法医病理学家和一名临床医生共同进行。重要的是要调查错误是否是由于可预防的原因或偏离公认的标准造成的。只有通过临床医生和法医病理学家的共同努力才能做到这一点。这两个案例非常重要,因为它们表明,对于接受相同手术并出现类似严重并发症的患者,法医结论可能会有很大不同。尽管有相似之处,但由于错误的原因不同,法医和法律的结果也完全不同。
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引用次数: 0
Sudden Death in Pediatric Patient With Dilated Cardiomyopathy Due to Founder Variant in NKX2-5: Case Report 小儿扩张型心肌病患者因 NKX2-5 基因方差变异而猝死:病例报告
Q4 Medicine Pub Date : 2024-07-21 DOI: 10.1177/19253621241264857
Nicholas Scibetta, Barbara A. Sampson, Yingying Tang, Bruce D. Gelb
Background: The NKX2-5 gene encodes a transcription factor that plays a role in atrioventricular nodal and myocardial development. Pathogenic variants of NKX2-5 are associated with congenital heart disease and sudden cardiac death. The missense variant in this case is one of the more common ones in Northern Europe and has high penetrance in familial cases. To our knowledge, this is the youngest person who died due to this variant. Case summary: This was a healthy, asymptomatic 14-year-old male with well-managed mild congenital dilated cardiomyopathy who died unexpectedly in his home. Postmortem examination revealed the NKX2-5 pathogenic missense variant, p.Phe145Leu, as the only explicable cause of death. Discussion: We propose that immediate family members of those who die suddenly due to NKX2-5 disease undergo genetic counseling and longitudinal screening to include this gene, as pathogenic variants in the NKX2-5 gene may manifest in a time-dependent manner.
背景:NKX2-5 基因编码一种转录因子,在房室结和心肌发育中发挥作用。NKX2-5 基因的致病变异与先天性心脏病和心源性猝死有关。本病例中的错义变异是北欧较常见的变异之一,在家族病例中具有高渗透性。据我们所知,这是因这种变异而死亡的最年轻的患者。病例摘要:这是一名健康、无症状的 14 岁男性,患有管理良好的轻度先天性扩张型心肌病,在家中意外死亡。尸检显示,NKX2-5致病性错义变异p.Phe145Leu是唯一可以解释的死因。讨论:我们建议因 NKX2-5 疾病而猝死者的直系亲属接受遗传咨询和包括该基因在内的纵向筛查,因为 NKX2-5 基因的致病变异可能会以时间依赖性的方式表现出来。
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引用次数: 0
Gandhak-Potash Blast: Mechanism of Explosion and its Legal Consideration in India 甘达克-钾盐爆炸:印度的爆炸机制及其法律考量
Q4 Medicine Pub Date : 2024-06-13 DOI: 10.1177/19253621241259706
Devendra Jadav
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引用次数: 0
Fatal Hemoperitoneum Secondary to a Spontaneous Splenic Vein Rupture 继发于自发性脾静脉破裂的致命性腹腔积血
Q4 Medicine Pub Date : 2024-06-13 DOI: 10.1177/19253621241259827
Luther Fleury, Carolina McEnnan
Spontaneous hemoperitoneum is rare and is often labeled as idiopathic because the source of bleeding is never found. We report the case of a 35-year-old male who died of a splenic vein rupture. The decedent was a chronic alcoholic with a reported history of cirrhosis and medication noncompliance. Internal examination revealed pale visceral organs, marked hemoperitoneum, a fibrotic/nodular liver, esophageal varices, and a ruptured splenic vein. Pertinent microscopic findings include liver parenchyma with bridging fibrous septa, nodules of regenerating hepatocytes, and the presence of Mallory-Denk bodies. The immediate cause of death was determined to be splenic vein rupture with the underlying cause of death being chronic alcoholism. This case is reported to emphasize the importance of correlating past medical history with thorough vascular dissection in cases of spontaneous hemoperitoneum. In a patient with fatal hemoperitoneum and risk factors for splenic vein pathology (ie, cirrhosis, portal vein hypertension), a high suspicion should be kept for splenic vein rupture.
自发性腹腔积血非常罕见,由于从未找到出血源,因此通常被称为特发性腹腔积血。我们报告了一例死于脾静脉破裂的 35 岁男性病例。死者长期酗酒,据报告有肝硬化和不遵医嘱用药的病史。内脏检查显示内脏器官苍白,腹腔积血明显,肝脏纤维化/结节化,食管静脉曲张,脾静脉破裂。显微镜下的相关发现包括肝脏实质与桥接的纤维间隔、再生肝细胞结节以及马洛里-登克体的存在。直接死因被确定为脾静脉破裂,根本死因是慢性酒精中毒。本病例的报告强调了在自发性腹腔积血病例中,将既往病史与彻底的血管解剖联系起来的重要性。对于有致命性血腹腔和脾静脉病变危险因素(即肝硬化、门静脉高压)的患者,应高度怀疑脾静脉破裂。
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引用次数: 0
SARS-CoV-2 (COVID-19) Experience at an Academic Medical Examiner's Office. 学术法医办公室的 SARS-CoV-2 (COVID-19) 经验。
Q4 Medicine Pub Date : 2024-05-30 eCollection Date: 2024-09-01 DOI: 10.1177/19253621231224532
Joseph A Prahlow, Prentiss Jones, Kristi Bailey, Abigail Grande, Asmaa Obead, Christine Pink, Elizabeth Douglas, Brandy Shattuck, Amanda Fisher-Hubbard, Theodore Brown, Joyce L deJong

Introduction: The coronavirus disease of 2019 (COVID-19) pandemic has resulted in a great deal of morbidity and mortality worldwide. Since most deaths related to COVID-19 are currently considered natural, and they tend to occur following a clinically recognized illness, many medical examiner/coroner offices within the United States do not take jurisdiction over the majority of COVID-19 deaths.

Methods: In this review, we present the experience of a medium-sized medical examiner's office affiliated with an academic medical school institution, over the first 15 months of the COVID-19 pandemic.

Results: Compared to a 15-month period that immediately preceded the pandemic, our office experienced a significant increase in the total number of reported deaths, scene investigations, full autopsies, natural deaths, accidents, homicides, and drug-related deaths, but a decrease in the number of suicides. Overall, our office performed 5 autopsies during the study period where COVID-19 was considered the primary cause of death, 4 cases where COVID-19 was considered a contributory cause of death, and 28 cases where COVID-19 testing was positive, but COVID-19 was not contributory to death.

Discussion: The COVID-19 pandemic was accompanied by a sizeable increase in work volume within our academic medical examiner's office. Although this increased workload was not related to a large number of COVID-19-related deaths investigated by the office, there were numerous areas of increased workload that were likely secondarily related to the conditions associated with the pandemic.

导言:2019 年冠状病毒病(COVID-19)大流行在全球范围内造成了大量的发病率和死亡率。由于大多数与 COVID-19 相关的死亡目前被认为是自然死亡,而且这些死亡往往发生在临床公认的疾病之后,因此美国的许多法医/验尸官办公室并不管辖大多数 COVID-19 死亡:在这篇综述中,我们介绍了 COVID-19 大流行头 15 个月中,一家医学院校附属中型法医办公室的经验:与大流行之前的 15 个月相比,我们的办公室在死亡报告、现场调查、全面尸检、自然死亡、事故、凶杀和毒品相关死亡的总数上都有显著增加,但自杀的数量却有所下降。总体而言,我们办公室在研究期间进行了5例COVID-19被认为是主要死因的尸体解剖,4例COVID-19被认为是促成死亡的原因,28例COVID-19检测呈阳性,但COVID-19不是促成死亡的原因:在 COVID-19 大流行的同时,我们学术法医办公室的工作量也大幅增加。虽然工作量的增加与该办公室调查的大量 COVID-19 相关死亡无关,但有许多方面的工作量增加可能与大流行病的相关情况有间接关系。
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引用次数: 0
Gandhak Potash Blast: An Actual Sitting Over the Powder Keg-A Case Report. 甘达克钾盐爆炸:实际坐在火药桶上--案例报告。
Q4 Medicine Pub Date : 2024-03-31 DOI: 10.1177/19253621231218028
Rahul Kaushik, Luv Sharma, Jitender Kumar Jakhar, Piyush Jain, Priti Singh

An explosive is a container that is filled with material that will explode when it is thrown or dropped, or when a device inside it makes it explode. Many materials can be used in making up of a bomb individually or when mixed with some other chemical. The type of explosive that gets misused most commonly are those used in manufacturing and other commercial applications due to their easy accessibility to public. Improper handling and inattentive behavior toward the explosives can lead to disastrous circumstances. Here we report such a case in which a 30-year-old male took rocks of potassium sulphate (called Gandhak Potash in the local vernacular language) and struck them with a metallic pestle, which triggered an explosion. The distal phalanges of both hands were found traumatically amputated. Stippling effect due to unburnt powdered explosive substance were present over the head, face, chest, and anteromedial aspect of legs. He died within few hours after the blast. Different type of mechanical injuries and injuries to the internal organs can be sustained over the body due to effects of explosion as we've seen in our case, that is, abrasion, contusion, lacerations, fractures, burn injury and such pattern of injury, and specific injuries sustained due to pressure effect like blast lung along with circumstantial evidence helps in deciding the manner of death.

爆炸物是一种装有材料的容器,当它被投掷或掉落时,或当里面的装置使其爆炸时,就会发生爆炸。许多材料可单独或与其他化学物质混合后用于制造炸弹。最常被滥用的爆炸物类型是用于制造业和其他商业用途的爆炸物,因为公众很容易获得。对爆炸物的不当处理和疏忽大意可能会导致灾难性的后果。我们在此报告了这样一个案例:一名 30 岁的男性拿着硫酸钾石块(当地方言称作 Gandhak Potash)用金属杵敲击,引发了爆炸。双手的远端指骨被发现因外伤而截断。头部、脸部、胸部和腿部前内侧都有未燃烧的爆炸物粉末造成的条纹。他在爆炸后几小时内死亡。正如我们在本案中看到的那样,由于爆炸的影响,身体上可能会出现不同类型的机械损伤和内脏损伤,即擦伤、挫伤、撕裂伤、骨折、烧伤和此类损伤模式,以及由于压力效应(如爆炸肺)而造成的特定损伤,再加上间接证据,有助于确定死亡方式。
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引用次数: 0
Lethal Complications of Meningiomas: A Case Series 脑膜瘤的致命并发症:病例系列
Q4 Medicine Pub Date : 2024-02-12 DOI: 10.1177/19253621241228625
Jeffrey J. Feng, Joyce L. deJong, Elizabeth A. Douglas, Amanda O. Fisher-Hubbard, J. Prahlow
Meningiomas are the most prevalent type of primary intracranial tumor in adults, comprising nearly one-third of all intracranial tumors. They are typically benign, slow-growing, and asymptomatic but may cause neurological symptoms as they expand due to mass effect. Classification is determined by World Health Organization (WHO) grades 1 to 3 following pathological examination corresponding to benign, atypical, and anaplastic (malignant), respectively, reflecting their rate of growth and risk of recurrence. The vast majority are WHO grade 1 and their slow growth permits timely presentation for elective resection; however, meningiomas in vulnerable locations and coexisting morbidities can result in sudden death. We present a series of four adult patients with meningiomas which resulted in death, including a case of fatal seizure, midline hemorrhagic meningioma, postresection meningitis, and compression of the cerebellum. Retrospective review of the authors’ cases was conducted. Available pathology, medical, and autopsy records including gross images were reviewed in each case. The inclusion criteria were adult patients (>18 years old) and that the cause of death had to include meningioma. The four patients included a 61-year-old male, an 84-year-old female, a 62-year-old male, and a 37-year-old female. Qualitative; autopsy reports describing cause of death and pathology report findings including gross and microscopic analysis. Meningiomas are often benign in nature but can rarely result in death. Size and location of the tumor and risk factors are contributory. Autopsy examination can be instrumental in identifying the cause and mechanism of deaths associated with meningiomas.
脑膜瘤是成人颅内最常见的原发性肿瘤,占颅内肿瘤总数的近三分之一。脑膜瘤通常是良性的,生长缓慢且无症状,但由于肿块效应,在肿瘤扩大时可能会引起神经系统症状。世界卫生组织(WHO)根据病理检查结果将其分为 1 至 3 级,分别对应良性、非典型和无弹性(恶性)肿瘤,以反映其生长速度和复发风险。绝大多数脑膜瘤为WHO 1级,生长缓慢,可及时进行选择性切除。我们介绍了四例导致死亡的成年脑膜瘤患者,包括一例致命性癫痫发作、中线出血性脑膜瘤、切除术后脑膜炎和小脑受压病例。我们对作者的病例进行了回顾性分析。对每个病例的病理、医疗和尸检记录(包括大体图像)都进行了审查。纳入标准是成年患者(大于 18 岁),死因必须包括脑膜瘤。四名患者包括一名 61 岁的男性、一名 84 岁的女性、一名 62 岁的男性和一名 37 岁的女性。定性;尸检报告描述死因和病理报告结果,包括大体和显微镜分析。脑膜瘤通常是良性肿瘤,但很少会导致死亡。肿瘤的大小和位置以及风险因素都是诱因。尸检有助于确定与脑膜瘤相关的死亡原因和机制。
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引用次数: 0
Lethal Complications of Meningiomas: A Case Series 脑膜瘤的致命并发症:病例系列
Q4 Medicine Pub Date : 2024-02-12 DOI: 10.1177/19253621241228625
Jeffrey J. Feng, Joyce L. deJong, Elizabeth A. Douglas, Amanda O. Fisher-Hubbard, J. Prahlow
Meningiomas are the most prevalent type of primary intracranial tumor in adults, comprising nearly one-third of all intracranial tumors. They are typically benign, slow-growing, and asymptomatic but may cause neurological symptoms as they expand due to mass effect. Classification is determined by World Health Organization (WHO) grades 1 to 3 following pathological examination corresponding to benign, atypical, and anaplastic (malignant), respectively, reflecting their rate of growth and risk of recurrence. The vast majority are WHO grade 1 and their slow growth permits timely presentation for elective resection; however, meningiomas in vulnerable locations and coexisting morbidities can result in sudden death. We present a series of four adult patients with meningiomas which resulted in death, including a case of fatal seizure, midline hemorrhagic meningioma, postresection meningitis, and compression of the cerebellum. Retrospective review of the authors’ cases was conducted. Available pathology, medical, and autopsy records including gross images were reviewed in each case. The inclusion criteria were adult patients (>18 years old) and that the cause of death had to include meningioma. The four patients included a 61-year-old male, an 84-year-old female, a 62-year-old male, and a 37-year-old female. Qualitative; autopsy reports describing cause of death and pathology report findings including gross and microscopic analysis. Meningiomas are often benign in nature but can rarely result in death. Size and location of the tumor and risk factors are contributory. Autopsy examination can be instrumental in identifying the cause and mechanism of deaths associated with meningiomas.
脑膜瘤是成人颅内最常见的原发性肿瘤,占颅内肿瘤总数的近三分之一。脑膜瘤通常是良性的,生长缓慢且无症状,但由于肿块效应,在肿瘤扩大时可能会引起神经系统症状。世界卫生组织(WHO)根据病理检查结果将其分为 1 至 3 级,分别对应良性、非典型和无弹性(恶性)肿瘤,以反映其生长速度和复发风险。绝大多数脑膜瘤为WHO 1级,生长缓慢,可及时进行选择性切除。我们介绍了四例导致死亡的成年脑膜瘤患者,包括一例致命性癫痫发作、中线出血性脑膜瘤、切除术后脑膜炎和小脑受压病例。我们对作者的病例进行了回顾性分析。对每个病例的病理、医疗和尸检记录(包括大体图像)都进行了审查。纳入标准是成年患者(大于 18 岁),死因必须包括脑膜瘤。四名患者包括一名 61 岁的男性、一名 84 岁的女性、一名 62 岁的男性和一名 37 岁的女性。定性;尸检报告描述死因和病理报告结果,包括大体和显微镜分析。脑膜瘤通常是良性肿瘤,但很少会导致死亡。肿瘤的大小和位置以及风险因素都是诱因。尸检有助于确定与脑膜瘤相关的死亡原因和机制。
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引用次数: 0
Potential Dextromethorphan-Induced Serotonin Syndrome Leading to Homicide and Suicide. 右美沙芬诱发血清素综合征导致杀人和自杀的可能性。
Q4 Medicine Pub Date : 2024-01-30 eCollection Date: 2024-03-01 DOI: 10.1177/19253621231224531
Matthew M Pavelka, Roland Kohr

Limited case reports have been published regarding serotonin syndrome due to the combined effects of supratherapeutic levels of dextromethorphan and selective serotonin reuptake inhibitor. We report a case of an adolescent with postmortem findings suggestive of a diagnosis of serotonin syndrome-induced psychosis associated with a double homicide and suicide. Postmortem toxicology of the suicide victim was remarkable for elevated serotonergic metabolites of fluoxetine and dextromethorphan in a 14-year-old male.

关于右美沙芬和选择性 5-羟色胺再摄取抑制剂超治疗量联合作用导致的 5-羟色胺综合征,已发表的病例报告非常有限。我们报告了一个青少年病例,该病例的尸检结果提示,血清素综合征引起的精神病诊断与双重凶杀和自杀有关。自杀者的尸检毒理学结果显示,一名 14 岁男性体内的氟西汀和右美沙芬的血清素代谢物明显升高。
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引用次数: 0
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Academic Forensic Pathology
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