Postmortem Next-Generation Sequencing in an Autopsy Case with Hypertrophic Cardiomyopathy / 대한법의학회지

Postmor tem next-generation sequencing (NGS) plays a crucial role in uncovering previously unidentified genetic causes of death. It provides essential findings useful for counseling affected family members and advancing our understanding of genetic diseases. In this report, we present the first documented autopsy case of hypertrophic cardiomyopathy (HCM) in South Korea in which postmortem NGS was used to identify a novel mutation. A 40-year-old male with no relevant medical history experienced sudden death at home. The autopsy revealed cardiac findings consistent with HCM but no other potential causes of sudden death. Through postmortem NGS analysis, a novel pathogenic mutation, c.2833_2834del, in MYBPC3 gene, was discovered; hence, this serves as the first report of this mutation in a Korean population. This finding not only confirms the diagnosis of HCM but also provides a plausible explanation for the sudden death. Given the hereditary nature of HCM, genetic counseling is strongly recommended, especially for the deceased’s nine-year-old son, who has a 50% risk of inheriting the mutation. This case underscores the critical role of postmortem NGS in the field of forensic medicine. The significance of NGS and necessity for integration into autopsy investigations are highlighted.

Exploring the Relationship between Psychosocial Risk Factors and Sudden Unexplained Infant Death: A Study of Autopsy Cases from a Perspective of Child Welfare / 대한법의학회지

Infants who are born between 24 hours and 1 year of age require extreme caution in their care due to their fragility. However, if there are multiple risk factors associated with the infant, caretaker, household, and surrounding circumstances, providing proper and appropriate care becomes problematic. This difficulty in caring for infants can contribute to abuse, neglect, or even death. This study investigates unexplained infant deaths that occur in the presence of multiple psychosocial risk factors. This study aimed to explore the relationship between various psychosocial risk factors and sudden, unexplained infant deaths. We examined nine cases from the autopsy archive of the National Forensic Service using a statistical approach. Among these cases, three were subject to legal action, while six were closed without further legal process. Although it was difficult to establish a clear relationship between death and abuse or neglect in the six cases, all were found to have experienced a harsh environment that was similar to abuse or neglect. We discuss the implications of our findings for understanding infant deaths and legal outcomes and propose a new framework to understand the deaths of infants.

Evaluation of the Usefulness of Cardiac Marker Analysis for Postmortem Diagnosis of Acute Myocardial Infarction / 대한법의학회지

Acute myocardial infarction is one of the main causes of unusual death. However, diagnosing acute myocardial infarction based on post-mortem examination may be difficult; notably, it cannot be diagnosed based on postmortem inspection. In this study, we aimed to investigate the usefulness of cardiac marker analysis in the diagnosis of acute myocardial infarction and to review the possibility of its application in post-mortem inspections. This study included 69 autopsy cases, including 29 cases in which the post-mortem interval was ≤24 hours, performed at the National Forensic Service Seoul Institute from July to November 2018. Tests for three cardiac markers (myoglobin, creatinine kinase-MB, and cardiac troponin I) were performed in each case using portable equipment, Triage Meter. The reliability of the equipment enzyme levels according to cause of death, and factors affecting the postmortem test results were analyzed. Cardiac marker concentrations were not significantly different between the heart disease and other disease groups, and Triage Meter was not found to be suitable for postmortem examination. Therefore, we can conclude that using cardiac marker analysis in the diagnosis of acute myocardial infarction using portable equipment at the scene of postmortem inspection is inappropriate.

Usefulness of Near-infrared Spectroscopy for Diagnosis of Traumatic Intracranial Hemorrhage in Postmortem Inspection / 대한법의학회지

Near-infrared spectroscopy is a device used to determine whether traumatic intracranial hemorrhage has occurred and is primarily used for screening in emergency situations. In this study we examined the applicability of this equipment in postmortem inspection. This study included 124 autopsy cases and 59 postmortem inspection cases performed in the National Forensic Service from July 2017 to October 2018. We carried out the test using Infrascanner Model 2000 (Infrascan Inc.). Autopsy cases were divided into four groups (epidural hemorrhage or subdural hemorrhage group, traumatic subarachnoid hemorrhage or cerebral contusion group, nontraumatic intracerebral hemorrhage group, and control group) and analyzed. There was no difference in the test results according to the presence and type of intracranial hemorrhage. The possibility that variables related to postmortem change affected the test results was considered. In conclusion, this study confirmed that near-infrared spectroscopy is not suitable for the detection of traumatic intracranial hemorrhage in postmortem inspection.

Usefulness of Near-infrared Spectroscopy for Diagnosis of Traumatic Intracranial Hemorrhage in Postmortem Inspection / 대한법의학회지

Near-infrared spectroscopy is a device used to determine whether traumatic intracranial hemorrhage has occurred and is primarily used for screening in emergency situations. In this study we examined the applicability of this equipment in postmortem inspection. This study included 124 autopsy cases and 59 postmortem inspection cases performed in the National Forensic Service from July 2017 to October 2018. We carried out the test using Infrascanner Model 2000 (Infrascan Inc.). Autopsy cases were divided into four groups (epidural hemorrhage or subdural hemorrhage group, traumatic subarachnoid hemorrhage or cerebral contusion group, nontraumatic intracerebral hemorrhage group, and control group) and analyzed. There was no difference in the test results according to the presence and type of intracranial hemorrhage. The possibility that variables related to postmortem change affected the test results was considered. In conclusion, this study confirmed that near-infrared spectroscopy is not suitable for the detection of traumatic intracranial hemorrhage in postmortem inspection.

A Study on the Usefulness of Postmortem Diabetes Mellitus-Related Tests / 대한법의학회지

Diabetes mellitus (DM) is a group of metabolic disorders, that have become a major cause of death worldwide. This study aimed to determine the usefulness of diabetes-related laboratory tests for diagnosis of postmortem DM. From March to August 2018, among the autopsy cases investigated by the National Forensic Service, heart blood and vitreous humor samples from 253 cases that had not been decomposed were collected, and the data from 208 cases except 45 cases that were incapable of testing were analyzed for statistical significance and compared with the causes of death on autopsy reports. The levels of C-peptide, insulin, acetoacetate, β-hydroxybutyrate (β-HA), total ketone, and HbA1c were measured in the heart blood, and the levels of glucose, blood urea nitrogen, creatinine, and potassium were measured in the vitreous humor. The levels of glucose in the vitreous humor and HbA1c, β-HA, and total ketone in the heart blood were significantly correlated. C-peptide and insulin levels were lower than normal levels in most cases (C-peptide 92.3%, P=0.480, insulin 97.6%, P=0.589), and were not useful measures indicating diabetic complications. In the group with DM history, the average levels of HbA1c from the heart blood and glucose from the vitreous humor were higher than in those with no or unknown history of DM, indicating their usefulness as diagnostic tools. The results of this study suggest a postmortem DM diagnosis model.Therefore, postmortem DM-related tests can help diagnose the cause of death in forensic medicine.

Usefulness of Near-infrared Spectroscopy for Diagnosis of Traumatic Intracranial Hemorrhage in Postmortem Inspection / 대한법의학회지

Near-infrared spectroscopy is a device used to determine whether traumatic intracranial hemorrhage has occurred and is primarily used for screening in emergency situations. In this study we examined the applicability of this equipment in postmortem inspection. This study included 124 autopsy cases and 59 postmortem inspection cases performed in the National Forensic Service from July 2017 to October 2018. We carried out the test using Infrascanner Model 2000 (Infrascan Inc.). Autopsy cases were divided into four groups (epidural hemorrhage or subdural hemorrhage group, traumatic subarachnoid hemorrhage or cerebral contusion group, nontraumatic intracerebral hemorrhage group, and control group) and analyzed. There was no difference in the test results according to the presence and type of intracranial hemorrhage. The possibility that variables related to postmortem change affected the test results was considered. In conclusion, this study confirmed that near-infrared spectroscopy is not suitable for the detection of traumatic intracranial hemorrhage in postmortem inspection.

Risk Factors for Sudden Infant Death Syndrome and Sleeping Practices in Korea

Sudden infant death syndrome (SIDS) in Korea remains a poorly-understood subject for both professionals and the public. Recent reports have emphasized ethnic differences in SIDS rates, suggesting that making adjustments in child-rearing practices may contribute substantially to SIDS reduction. Two of the three major risk factors for SIDS-vulnerability of the infant and exogenous factors-need to be understood in particular depth due to their broad scope and sociocultural grounding. This paper presents substantial issues regarding preterm birth and male gender on infants’ vulnerability to SIDS in Korea. Practices of caring for healthy infants are addressed in the context of sleeping practices, including sleeping position, bedding arrangements, sleeping on the floor, the back-to-sleep position, high indoor temperatures and ondol floor heating, and swaddling. Professional and social awareness about how to reduce SIDS should be raised by promoting a better understanding of risk factors in the context of ethnic and cultural variations in child-rearing practices.

Evaluation of the Usefulness of Cardiac Enzyme Analysis for the Diagnosis of Acute Myocardial Infarction in Postmortem Inspection / 대한법의학회지

Acute myocardial infarction is one of the most common causes of unexpected deaths, but there are limitations to its diagnosis in postmortem inspection. In this study, we aimed to investigate the usefulness of cardiac marker analysis for the diagnosis of acute myocardial infarction in postmortem inspection. This study was conducted on 30 postmortem inspection cases conducted by the National Forensic Service from 2016 to 2018. Tests for three myocardial enzymes (myoglobin, creatinine kinase-MB, and cardiac troponin I) were performed in each case, and the relationships between enzyme levels, cause of death, and factors affecting the postmortem tests were analyzed. Cardiac enzyme concentrations were not significantly different between the heart disease group and other disease groups, and the false-positive rate was increased due to postmortem changes. Therefore, we can conclude that it is not appropriate to use cardiac enzyme analysis for the diagnosis of acute myocardial infarction in postmortem inspection.

Traumatic Rupture of the Middle Cerebral Artery Followed by Acute Basal Subarachnoid Hemorrhage: Tailored Approach in Forensic Pathology by Aid of Post-mortem Angiographic Findings / 대한법의학회지

We present the case of a 23-year-old man who suddenly collapsed during a physical altercation with his friends while in a drunken state. The post-mortem computed tomography (CT) with angiography revealed acute basal subarachnoid hemorrhage with rupture of the left middle cerebral artery. On autopsy, the head, face, mandible and neck showed multifocal hemorrhages with fracture of the hyoid bone, and the pathologic findings of the brain was consistent with CT findings. However, the vascular rupture site was not observed macroscopically. On histologic examination, a microscopic focal rupture was identified at the proximal portion of the middle cerebral artery, and possibility of arteriopathy was considered. This case illustrates that other parts of intracerebral arteries (other than the vertebral arteries) can be the culprit of rupture in the case of traumatic basal subarachnoid hemorrhage, and the post-mortem angiographic findings can be helpful in targeting the site of vascular injury. Furthermore, meticulous sampling of intracranial vessels could help find the vascular rupture site and identify any histologic findings suspicious of arteriopathy. Therefore, we suggest that post-mortem angiography can be an effective and adjunctive tool for a tailored approach in finding the vascular injury, and that histologic examination of both the intracranial and extracranial arteries be important to medicolegally ensure the death of traumatic basal subarachnoid hemorrhage and to examine presence of arteriopathy as a predisposing factor.

Statistical Analysis of Postmortem Inspection Cases of the National Forensic Service Seoul Institute in 2017 / 대한법의학회지

This study provides a statistical analysis of 1,226 cases of death occurring in Area 8, Seoul Metropolitan Police Agency (Gangseo, Yangcheon, and Guro Police Stations) from January 1 to December 31, 2017. There were 427 postmortem inspection cases in Gangseo, 393 in Yangcheon, 377 in Guro, and 29 in other areas. The number of autopsy cases was 69 in Gangseo, 70 in Yangcheon, 86 in Guro, and seven in other areas. According to the postmortem inspection reports, there were 593 cases of natural death and 336 cases of unnatural death, while in 297 cases the cause of death was unknown. Of the 297 unknown cases, autopsy rates from each police station were as follows: 54 of 99 cases (54.5%) in Gangseo, 60 of 101 cases (59.4%) in Yangcheon, 67 of 93 cases (72.0%) in Guro, and in all four cases (100%) from other areas. Unnatural deaths included 215 cases of suicide, nine cases of homicide, and 64 accidental death, while 48 cases were undetermined. Among the unnatural deaths, the cause of death included 138 cases of hanging, 72 cases of falls from a height, and 32 cases of poisoning. Since this statistical study is based on actual postmortem inspection data for 1,226 cases of death in the eight areas of Seoul (excluding deaths from traffic accidents), it raises issues relating to the current postmortem inspection system, and can be used as reference material for a comprehensive overview of causes of death.

Statistical Analysis of Postmortem Inspection Cases of the National Forensic Service Seoul Institute in 2017 / 대한법의학회지

This study provides a statistical analysis of 1,226 cases of death occurring in Area 8, Seoul Metropolitan Police Agency (Gangseo, Yangcheon, and Guro Police Stations) from January 1 to December 31, 2017. There were 427 postmortem inspection cases in Gangseo, 393 in Yangcheon, 377 in Guro, and 29 in other areas. The number of autopsy cases was 69 in Gangseo, 70 in Yangcheon, 86 in Guro, and seven in other areas. According to the postmortem inspection reports, there were 593 cases of natural death and 336 cases of unnatural death, while in 297 cases the cause of death was unknown. Of the 297 unknown cases, autopsy rates from each police station were as follows: 54 of 99 cases (54.5%) in Gangseo, 60 of 101 cases (59.4%) in Yangcheon, 67 of 93 cases (72.0%) in Guro, and in all four cases (100%) from other areas. Unnatural deaths included 215 cases of suicide, nine cases of homicide, and 64 accidental death, while 48 cases were undetermined. Among the unnatural deaths, the cause of death included 138 cases of hanging, 72 cases of falls from a height, and 32 cases of poisoning. Since this statistical study is based on actual postmortem inspection data for 1,226 cases of death in the eight areas of Seoul (excluding deaths from traffic accidents), it raises issues relating to the current postmortem inspection system, and can be used as reference material for a comprehensive overview of causes of death.

Evaluation of the Usefulness of Cardiac Enzyme Analysis for the Diagnosis of Acute Myocardial Infarction in Postmortem Inspection / 대한법의학회지

Acute myocardial infarction is one of the most common causes of unexpected deaths, but there are limitations to its diagnosis in postmortem inspection. In this study, we aimed to investigate the usefulness of cardiac marker analysis for the diagnosis of acute myocardial infarction in postmortem inspection. This study was conducted on 30 postmortem inspection cases conducted by the National Forensic Service from 2016 to 2018. Tests for three myocardial enzymes (myoglobin, creatinine kinase-MB, and cardiac troponin I) were performed in each case, and the relationships between enzyme levels, cause of death, and factors affecting the postmortem tests were analyzed. Cardiac enzyme concentrations were not significantly different between the heart disease group and other disease groups, and the false-positive rate was increased due to postmortem changes. Therefore, we can conclude that it is not appropriate to use cardiac enzyme analysis for the diagnosis of acute myocardial infarction in postmortem inspection.

Traumatic Rupture of the Middle Cerebral Artery Followed by Acute Basal Subarachnoid Hemorrhage: Tailored Approach in Forensic Pathology by Aid of Post-mortem Angiographic Findings / 대한법의학회지

We present the case of a 23-year-old man who suddenly collapsed during a physical altercation with his friends while in a drunken state. The post-mortem computed tomography (CT) with angiography revealed acute basal subarachnoid hemorrhage with rupture of the left middle cerebral artery. On autopsy, the head, face, mandible and neck showed multifocal hemorrhages with fracture of the hyoid bone, and the pathologic findings of the brain was consistent with CT findings. However, the vascular rupture site was not observed macroscopically. On histologic examination, a microscopic focal rupture was identified at the proximal portion of the middle cerebral artery, and possibility of arteriopathy was considered. This case illustrates that other parts of intracerebral arteries (other than the vertebral arteries) can be the culprit of rupture in the case of traumatic basal subarachnoid hemorrhage, and the post-mortem angiographic findings can be helpful in targeting the site of vascular injury. Furthermore, meticulous sampling of intracranial vessels could help find the vascular rupture site and identify any histologic findings suspicious of arteriopathy. Therefore, we suggest that post-mortem angiography can be an effective and adjunctive tool for a tailored approach in finding the vascular injury, and that histologic examination of both the intracranial and extracranial arteries be important to medicolegally ensure the death of traumatic basal subarachnoid hemorrhage and to examine presence of arteriopathy as a predisposing factor.

Radiocarbon Dating of Skeletal Remains: Case Report / 대한법의학회지

While radioactive isotope analysis has proved to be a useful method in disciplines such as archaeology and forensic anthropology, more recently, radiocarbon dating has allowed for a more nuanced biological profile of human skeletal remains. Radiocarbon dating has been made possible by the above ground nuclear bomb test conducted in 1963, which raised the level of atmospheric radiocarbon concentration to almost twice the natural level. Because the annually measured tropospheric ¹⁴C concentrations are integrated into the bomb peak curve, the time of birth and death of an individual can be estimated by comparing the radiocarbon content of a skeletal sample to the bomb-curve value. In July 2017, about 1,000 skeletal remains were excavated at the construction site of Sokcho. For medico-legal purposes, we conducted anthropological and odontological examinations of all the human remains. We then conducted the radiocarbon analysis on seven femora (head and body portions), five mandibular teeth, and soil from the site through a request to the Korea Institute of Geoscience and Mineral Resources. The results demonstrated that the estimated year of birth or death was prior to the 1950s. Due to the diverse distribution of results, we deduced that the human remains were from the local mass grave. This study supports and suggests the use of radiocarbon dating more frequently in the analysis of human skeletal remains.

A Statistical Analysis on Forensic Autopsies Performed in Korea in 2017 / 대한법의학회지

Statistical analysis was performed on national forensic autopsy data collected in the Republic of Korea, with the exception of Ulsan, during 2017. A total of 8,777 cases were categorized based on the region; information was provided by the Police Agency and the Coast Guard regarding sex, age, manner of death, and cause of death. Analysis of the manner of death revealed that 3,971 cases (45.2%) were unnatural deaths, 3,679 cases (41.9%) were natural deaths, and 1,127 cases (12.8%) were unknown deaths. Among the unnatural deaths, the majority of the cases (1,740 cases, 43.8%) were accidents, 1,316 cases (33.1%) were suicide, 385 cases (9.7%) were homicide, and 530 cases (13.3%) were undetermined deaths. Among the unnatural deaths, the majority of the cases (1,575 cases, 39.7%) were trauma, followed by 793 cases (20.0%) of poisoning and 689 cases (17.4%) of asphyxia. Falling down was the major cause of death by trauma (737 cases, 46.8%). As a result of the classification of asphyxia based on previous study, strangulation was the major cause, with 538 cases (78.1%). Among the natural deaths, heart disease was the major cause (1,790 cases, 48.7%), followed by vascular disease (697 cases, 18.9%).

Retrospective Genetic Analysis of 200 Cases of Sudden Infant Death Syndrome and Its Relationship with Long QT Syndrome in Korea

BACKGROUND: There has been a campaign by the National Education on Sleeping Habits and Living Environment, to reduce the incidence of sudden infant death syndrome (SIDS). However, more than 100 infants die suddenly and unexplainably before the age of 1 year in Korea. Long QT syndrome (LQTS), an inheritable cardiac disease, has been reported to likely be associated with up to 14% of SIDS cases. However, genetic studies of the association between SIDS and LQTS have not yet been conducted in Korea. METHODS: We conducted genetic analysis using genomic DNA extracted from paraffin-embedded tissue blocks from 200 SIDS cases autopsied between 2005 and 2013. We analyzed the following genetic mutations associated with LQTS, KCNQ1, SCN5A, KCNE1, KCNE2, KCNJ2, and CAV3. RESULTS: Of the 200 SIDS cases, 58% involved male infants (116 male and 84 female infants, respectively), the mean age was 140 days (median, 107 days; range, 24–270 days), and they were all of Asian-Korean ethnicity. SIDS IA category criteria comprised 45 cases (22.5%) while the rest were SIDS IB. Fifteen infants (7.5%) had R1193Q in SCN5A, of doubtful pathogenicity, and no pathogenic LQTS variants were observed. CONCLUSION: This genetic investigation of LQTS in SIDS showed a low diagnostic yield. These findings suggest that LQTS molecular autopsy could be cautiously conducted in selected cases with family involvement to improve the available genetic counseling information. Meanwhile, a national SIDS registry should be established to document and evaluate the genetic risk of SIDS in Korea.

Radiocarbon Dating of Skeletal Remains: Case Report / 대한법의학회지

While radioactive isotope analysis has proved to be a useful method in disciplines such as archaeology and forensic anthropology, more recently, radiocarbon dating has allowed for a more nuanced biological profile of human skeletal remains. Radiocarbon dating has been made possible by the above ground nuclear bomb test conducted in 1963, which raised the level of atmospheric radiocarbon concentration to almost twice the natural level. Because the annually measured tropospheric ¹⁴C concentrations are integrated into the bomb peak curve, the time of birth and death of an individual can be estimated by comparing the radiocarbon content of a skeletal sample to the bomb-curve value. In July 2017, about 1,000 skeletal remains were excavated at the construction site of Sokcho. For medico-legal purposes, we conducted anthropological and odontological examinations of all the human remains. We then conducted the radiocarbon analysis on seven femora (head and body portions), five mandibular teeth, and soil from the site through a request to the Korea Institute of Geoscience and Mineral Resources. The results demonstrated that the estimated year of birth or death was prior to the 1950s. Due to the diverse distribution of results, we deduced that the human remains were from the local mass grave. This study supports and suggests the use of radiocarbon dating more frequently in the analysis of human skeletal remains.

A Statistical Analysis on Forensic Autopsies Performed in Korea in 2017 / 대한법의학회지

Statistical analysis was performed on national forensic autopsy data collected in the Republic of Korea, with the exception of Ulsan, during 2017. A total of 8,777 cases were categorized based on the region; information was provided by the Police Agency and the Coast Guard regarding sex, age, manner of death, and cause of death. Analysis of the manner of death revealed that 3,971 cases (45.2%) were unnatural deaths, 3,679 cases (41.9%) were natural deaths, and 1,127 cases (12.8%) were unknown deaths. Among the unnatural deaths, the majority of the cases (1,740 cases, 43.8%) were accidents, 1,316 cases (33.1%) were suicide, 385 cases (9.7%) were homicide, and 530 cases (13.3%) were undetermined deaths. Among the unnatural deaths, the majority of the cases (1,575 cases, 39.7%) were trauma, followed by 793 cases (20.0%) of poisoning and 689 cases (17.4%) of asphyxia. Falling down was the major cause of death by trauma (737 cases, 46.8%). As a result of the classification of asphyxia based on previous study, strangulation was the major cause, with 538 cases (78.1%). Among the natural deaths, heart disease was the major cause (1,790 cases, 48.7%), followed by vascular disease (697 cases, 18.9%).

The Statistical Analysis on the Postmortem Inspection Cases of National Forensic Service Seoul Institute in 2016 / 대한법의학회지

From January 1, 2016 to December 31, 2016, a total of 1147 postmortem inspection cases in Area 8, Seoul Metropolitan Police Agency (Gangseo, Yangcheon, and Guro police stations) were statistically analyzed. Autopsies were performed in 205 cases (17.9%), and the autopsy rates were 17.6% (75/426 cases) in the Gangseo police station, 9.5% (34/357 cases) in the Yangcheon police station, and 24.3% (82/337 cases) in the Guro police station. For 288 cases with an unknown cause of death, the autopsy rates were 70.0% (60/87 cases) in the Gangseo police station, 28.6% (26/91 cases) in the Yangcheon police station, and 63.1% (65/103 cases) in the Guro police station. For 65 cases due to fall from height, the autopsy rate was 7.7% (n=5). Of the 187 cases due to hanging, 155 cases were classified as suicide at the scene with a 4.5% (n=7) autopsy rate and 32 cases were classified as an undetermined manner of death at the scene with a 15.6% (n=5) autopsy rate. The distribution of the “manner of death” was natural death, 45% (n=516); unnatural death, 29.9% (n=343); and other and undetermined, 25.1% (n=288). Proportions of dispatch times were 50.9% (584 cases) during work hours (09:00–18:00), 13.8% (n=158) during evening hours (18:00–21:00), 13.4% (n=154) at night (21:00–00:00), 11% (n=126) at dawn (00:00–06:00), and 10.9% (n=125) during morning hours (06:00–09:00). The male-to-female ratio was 1.86:1 (746:401). These statistics are valuable for the evaluation of postmortem inspections by experts.