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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
Prediction of Body Height Using Hand Length and Hand Breadth in Pharmacy and Nursing Students at Misrake Ghion College, Northeast Ethiopia: An Anthropometry Study. 使用手长和手宽预测埃塞俄比亚东北部米斯拉克吉翁学院药学和护理专业学生的身高:一项人体测量学研究。
Q4 Medicine Pub Date : 2024-01-30 eCollection Date: 2024-03-01 DOI: 10.1177/19253621231225259
Chalachew Tiruneh, Daniel Teshome, Teshome Geberemeskel, Mohammed Derso, Mogesie Necho, Yossef Teshome, Abebaw Molla

Objectives: To predict body height using hand length and hand breadth in pharmacy and nursing students at Misrake Ghion College, Northeast Ethiopia.

Methods: A cross-sectional prospective study was conducted from October 15 to January 20, 2021. The study was carried out on 316 students (160 males and 156 females). The study participants were from the Amhara ethnic groups, with the age range of 18 to 25 years. Body height, hand length, and hand breath were measured and analyzed using SPSS version 23. The strength of association was evaluated using correlation analysis. The significance level was set at p < 0.05. A paired sample t test was performed. Regression equations were derived using simple and multiple linear regression analysis.

Results: Hand length and hand breadth had a positive significant correlation with body height in both male and females. In both males and females, left hand length had a strong significant correlation (males r = 0.768, females r = 0.670), followed by right hand length (males r = 0.711, females r = 0.626). Regarding hand length, right hand breadth (males r = 0.671, female r = 0.438) and left hand length (males r = 0.504, females r = 0.525). There was a significant bilateral difference in hand length and hand breadth on its right and left sides (p < 0.05). Simple and multiple regression equations were formulated for each sex.

Conclusion: In both males and females, body height can be estimated from hand length and breadth using simple or multiple regression equations.

目的利用手长和手宽预测埃塞俄比亚东北部米斯拉克吉翁学院药学和护理专业学生的身高:于 2021 年 10 月 15 日至 1 月 20 日进行了一项横断面前瞻性研究。研究对象为 316 名学生(160 名男生和 156 名女生)。研究对象来自阿姆哈拉族,年龄在 18 至 25 岁之间。使用 SPSS 23 版测量并分析了身高、手长和手部呼吸。相关性分析评估了相关性的强度。显著性水平设定为 p <0.05。进行了配对样本 t 检验。使用简单和多元线性回归分析得出回归方程:男性和女性的手长和手宽与身高呈显著正相关。在男性和女性中,左手长度具有很强的显著相关性(男性 r = 0.768,女性 r = 0.670),其次是右手长度(男性 r = 0.711,女性 r = 0.626)。在手长方面,右手宽(男性 r = 0.671,女性 r = 0.438)和左手长(男性 r = 0.504,女性 r = 0.525)。左右两侧的手长和手宽存在明显的双侧差异(P < 0.05)。为每种性别制定了简单和多元回归方程:男性和女性的身高均可通过手长和手宽使用简单或多元回归方程进行估算。
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引用次数: 0
Frothing in a Case of Electrocution: A Rare Case and Review of Literature 电击病例中的泡沫:罕见病例与文献综述
Q4 Medicine Pub Date : 2023-12-18 DOI: 10.1177/19253621231218031
Sahil Thakral, Sarthak Aeron, P. Setia
Electrocution is a leading cause of unnatural deaths, especially in industrial and developing regions like India. In a recent case, an individual was brought in for autopsy following an apparent accidental electrocution. Strikingly, the postmortem examination revealed no typical entry or exit wounds associated with electric shocks. The body exhibited rigor mortis and a unique sign: reddish froth draining from the nasal cavities. Internal examination unveiled distinctive findings. Multiple tiny hemorrhages were observed over the heart’s left ventricle, while the heart’s blood vessels and valves remained unobstructed. In contrast, the lungs showed a frothy, whitish-red appearance extending into the bronchioles. This case presents an unprecedented observation: the presence of froth in the respiratory tract during electrocution. This case underscores the need for thorough autopsies. Even when specific indicators are absent, it highlights the importance of considering electrocution when froth is found in the respiratory tract. Such cases remind forensic pathologists of the diverse and occasionally unexpected manifestations they may encounter, encouraging the exploration of new phenomena within forensic medicine.
触电是导致非正常死亡的一个主要原因,尤其是在印度这样的工业和发展中地区。在最近的一个案例中,一个人在明显的意外触电后被送去尸检。令人震惊的是,尸检没有发现与电击有关的典型的进出伤口。尸体呈僵硬状,并有一个独特的体征:鼻腔排出淡红色泡沫。内部检查发现了一些独特的现象。在心脏左心室发现多处微小出血点,而心脏血管和瓣膜仍然畅通无阻。与此相反,肺部出现了泡沫状的白红色外观,并延伸至支气管。本病例展示了前所未有的观察结果:电击时呼吸道内出现泡沫。本病例强调了彻底尸检的必要性。即使没有特定的指标,它也强调了在呼吸道中发现泡沫时考虑电击的重要性。此类病例提醒法医病理学家,他们可能会遇到多种多样、偶尔出乎意料的表现形式,鼓励他们探索法医学中的新现象。
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引用次数: 0
期刊
Academic Forensic Pathology
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