Pub Date : 2025-01-10DOI: 10.1016/j.legalmed.2025.102572
Dragan Ječmenica, Snežana Pavlekić, Vladimir Živković, Aleksandra Repić, Suzana Marković, Veljko Milošević
Introduction: Suicide by sodium nitrite poisoning (SNP) is not common. In the last decade, an increase in the number of suicides caused by SNP was observed.
Case report: A 47-year-old female was found dead in her apartment. Four cups with a yellowish liquid and a scale for precise measurement were found at the scene. Also, an empty plastic bag labeled "Sodium Nitrite NaNO2". In the external examination, general signs of asphyxia were noticed. Bluish and slightly brownish hypostasis, which was prominent on the face and thighs, was present. The blood and all tissues were somewhat darker in appearance than usual. Toxicological analysis showed high levels of nitrites, nitrates, methemoglobin, and metoclopramide in blood and stomach content. It was concluded that this was a suicide by SNP.
Discussion: Autopsy signs of SNP are nonspecific. The grayish-brown color of the hypostasis is a characteristic sign of SNP but is very subjective and may be missed. Sodium nitrite cannot be legally purchased for domestic use in Serbia. Even though sodium nitrite commerce is strictly regulated, the victim was able to illegally obtain it and use it in combination with the antiemetic drug metoclopramide, which shows the knowledge that exceeds the common knowledge regarding this substance and is an example of suicide committed by intellectuals.
Conclusion: Cases of the fatal SNP may present a significant challenge in forensic practice due to their rarity and nonspecific presentation. Without any information about the circumstances of the case, it is often unrecognizable.
{"title":"Suicide by sodium nitrite: Autopsy case report.","authors":"Dragan Ječmenica, Snežana Pavlekić, Vladimir Živković, Aleksandra Repić, Suzana Marković, Veljko Milošević","doi":"10.1016/j.legalmed.2025.102572","DOIUrl":"https://doi.org/10.1016/j.legalmed.2025.102572","url":null,"abstract":"<p><strong>Introduction: </strong>Suicide by sodium nitrite poisoning (SNP) is not common. In the last decade, an increase in the number of suicides caused by SNP was observed.</p><p><strong>Case report: </strong>A 47-year-old female was found dead in her apartment. Four cups with a yellowish liquid and a scale for precise measurement were found at the scene. Also, an empty plastic bag labeled \"Sodium Nitrite NaNO<sub>2</sub>\". In the external examination, general signs of asphyxia were noticed. Bluish and slightly brownish hypostasis, which was prominent on the face and thighs, was present. The blood and all tissues were somewhat darker in appearance than usual. Toxicological analysis showed high levels of nitrites, nitrates, methemoglobin, and metoclopramide in blood and stomach content. It was concluded that this was a suicide by SNP.</p><p><strong>Discussion: </strong>Autopsy signs of SNP are nonspecific. The grayish-brown color of the hypostasis is a characteristic sign of SNP but is very subjective and may be missed. Sodium nitrite cannot be legally purchased for domestic use in Serbia. Even though sodium nitrite commerce is strictly regulated, the victim was able to illegally obtain it and use it in combination with the antiemetic drug metoclopramide, which shows the knowledge that exceeds the common knowledge regarding this substance and is an example of suicide committed by intellectuals.</p><p><strong>Conclusion: </strong>Cases of the fatal SNP may present a significant challenge in forensic practice due to their rarity and nonspecific presentation. Without any information about the circumstances of the case, it is often unrecognizable.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102572"},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973000","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-07DOI: 10.1016/j.legalmed.2025.102569
Anna Laura Santunione, Jessika Camatti, Fabrizio Zucchi, Cecilia Ferronato, Filippo Ferrari, Stefania Caramaschi, Enrico Silingardi, Rossana Cecchi
Waterhouse-Friderichsen Syndrome (WFS) is a rare but life-threatening condition characterized by massive adrenal hemorrhage. WFS represents one of the features of the Overwhelming Post-Splenectomy Infection, which occurs any time after spleen removal and is recognized as the most serious complication in asplenic patients. We report a fatal case of WFS resulting from Streptococcus pneumoniae infection in a vaccinated and splenectomized patient. D.R., a 62-year-old man who had been splenectomized 20 years earlier following a traffic accident and had undergone Streptococcus Pneumoniae vaccination, had an acute febrile episode with chills at home, followed by vomiting. He died suddenly within 12 h of presentation. A multidisciplinary approach was adopted to resolve the case. Autopsy, histological, immunohistochemical, microbiological and toxicological examinations were performed. At autopsy, both adrenal glands presented increased volume and diffuse intraparenchimal hemorrhage. Postmortem bacteriological cultures of blood, cerebrospinal fluid and pericardial fluid showed S. pneumoniae, while serologic and molecular characterization demonstrated that the serotype responsible was serotype 23B, which was not included in the vaccination which D.R. underwent. Accordingly, the cause of death of D.R. was attributed to acute adrenal insufficiency due to Waterhouse-Friderichsen syndrome caused by Serotype 23B Streptococcus pneumoniae infection. In splenectomized patients with fever, accompanied by other nonspecific symptoms, the diagnosis of WFS should be considered, even if the subjects received the recommended vaccinations. The postmortem diagnosis of WFS requires a multidisciplinary approach, including macroscopic examination, histological analysis, and microbiologic investigations, so it is necessary to collect appropriate postmortem biological specimens for microbiological investigation.
{"title":"Fatal Waterhouse-Friderichsen Syndrome caused by Streptococcus pneumoniae in a vaccinated adult with traumatic splenectomy: A case report.","authors":"Anna Laura Santunione, Jessika Camatti, Fabrizio Zucchi, Cecilia Ferronato, Filippo Ferrari, Stefania Caramaschi, Enrico Silingardi, Rossana Cecchi","doi":"10.1016/j.legalmed.2025.102569","DOIUrl":"https://doi.org/10.1016/j.legalmed.2025.102569","url":null,"abstract":"<p><p>Waterhouse-Friderichsen Syndrome (WFS) is a rare but life-threatening condition characterized by massive adrenal hemorrhage. WFS represents one of the features of the Overwhelming Post-Splenectomy Infection, which occurs any time after spleen removal and is recognized as the most serious complication in asplenic patients. We report a fatal case of WFS resulting from Streptococcus pneumoniae infection in a vaccinated and splenectomized patient. D.R., a 62-year-old man who had been splenectomized 20 years earlier following a traffic accident and had undergone Streptococcus Pneumoniae vaccination, had an acute febrile episode with chills at home, followed by vomiting. He died suddenly within 12 h of presentation. A multidisciplinary approach was adopted to resolve the case. Autopsy, histological, immunohistochemical, microbiological and toxicological examinations were performed. At autopsy, both adrenal glands presented increased volume and diffuse intraparenchimal hemorrhage. Postmortem bacteriological cultures of blood, cerebrospinal fluid and pericardial fluid showed S. pneumoniae, while serologic and molecular characterization demonstrated that the serotype responsible was serotype 23B, which was not included in the vaccination which D.R. underwent. Accordingly, the cause of death of D.R. was attributed to acute adrenal insufficiency due to Waterhouse-Friderichsen syndrome caused by Serotype 23B Streptococcus pneumoniae infection. In splenectomized patients with fever, accompanied by other nonspecific symptoms, the diagnosis of WFS should be considered, even if the subjects received the recommended vaccinations. The postmortem diagnosis of WFS requires a multidisciplinary approach, including macroscopic examination, histological analysis, and microbiologic investigations, so it is necessary to collect appropriate postmortem biological specimens for microbiological investigation.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102569"},"PeriodicalIF":1.3,"publicationDate":"2025-01-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957964","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-06DOI: 10.1016/j.legalmed.2025.102567
Varjas Péter Nagy, Viktor Soma Poór, Mónika Kuzma, Mátyás Mayer, Dénes Tóth, Veronika Heckmann, Gábor Simon
Motor vehicle accidents (MVA) are the leading cause of death in childhood and young adult age. One of the most important factors behind MVA is driving under the influence of alcohol (DUIA) and drugs (DUID). The importance of DUID is rising together with the increasing drug abuse. The legal approaches to DUID are based on impairment, impairment per se or zero tolerance. In case of impairment, the negative effect of the substance on the driving abilities has to be proven by a forensic expert, which can be challenging. This study compares the medical signs registered during blood sampling with the concentrations of substances detected by toxicological examination to find medical signs indicative of impairment. Statistical analysis did not find a correlation between substance concentration and measured parameters (pupil diameter, blood pressure and pulse rate). No connection was found between substance concentrations and the appearance of medical signs. The results indicate that pupil dilation, heart rate, and blood pressure could not be used as indicators of possible driving impairment by drugs, and no medical sign could reliably indicate the driving impairment by substances other than ethanol.
{"title":"Driving under the influence of drugs - The failed quest of finding medical signs indicative to driving impairment.","authors":"Varjas Péter Nagy, Viktor Soma Poór, Mónika Kuzma, Mátyás Mayer, Dénes Tóth, Veronika Heckmann, Gábor Simon","doi":"10.1016/j.legalmed.2025.102567","DOIUrl":"https://doi.org/10.1016/j.legalmed.2025.102567","url":null,"abstract":"<p><p>Motor vehicle accidents (MVA) are the leading cause of death in childhood and young adult age. One of the most important factors behind MVA is driving under the influence of alcohol (DUIA) and drugs (DUID). The importance of DUID is rising together with the increasing drug abuse. The legal approaches to DUID are based on impairment, impairment per se or zero tolerance. In case of impairment, the negative effect of the substance on the driving abilities has to be proven by a forensic expert, which can be challenging. This study compares the medical signs registered during blood sampling with the concentrations of substances detected by toxicological examination to find medical signs indicative of impairment. Statistical analysis did not find a correlation between substance concentration and measured parameters (pupil diameter, blood pressure and pulse rate). No connection was found between substance concentrations and the appearance of medical signs. The results indicate that pupil dilation, heart rate, and blood pressure could not be used as indicators of possible driving impairment by drugs, and no medical sign could reliably indicate the driving impairment by substances other than ethanol.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102567"},"PeriodicalIF":1.3,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We aimed to evaluate the correlation between cadaver stature and mandibular bone measurements using three-dimensional (3D) computed tomography (CT) images and develop a stature estimation formula for a Japanese population. In total, 307 and 72 identified cadavers who underwent postmortem CT were selected as the "training" and "validation" datasets, respectively, to derive a stature estimation formula. Four mandibular bone measurements (linear distances between the bilateral mandibular condyles: C-C, from the mental spine to the mandibular condyle: S-C, between the bilateral mandibular foramen: F-F, and from the mental spine to the mandibular foramen: S-F) were obtained from 3D CT-reconstructed images that included only the mandibular bone. Correlations between stature and each of the mandibular bone measurements were assessed using Pearson product-moment correlation coefficients. Multiple stepwise regression analyses (including and excluding sex status) were performed using all measurements to develop the stature estimation formula, and its accuracy was validated. Significant correlations were observed between the mandibular bone measurements and stature. The correlation coefficients were 0.668, 0.699, 0.705, and 0.669 for C-C, S-C, F-F, and S-F, respectively. R2 was 0.660 and 0.615, and the standard error of estimation (SEE) was 6.13 and 6.53 cm for including and excluding sex status, respectively. The validation test confirmed its accuracy. In conclusion, mandibular bone measurements based on 3D CT images may be useful for stature estimation in Japanese individuals in forensic investigations, particularly in cases where better predictors, such as long bones, are unavailable.
{"title":"Stature estimation based on the mandibular bone measurements using three-dimensional images from postmortem computed tomography in a Japanese population.","authors":"Shoken Suzuki, Maki Ohtani, Yuhei Matsuo, Masayuki Fukuda, Sohtaro Mimasaka","doi":"10.1016/j.legalmed.2024.102566","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102566","url":null,"abstract":"<p><p>We aimed to evaluate the correlation between cadaver stature and mandibular bone measurements using three-dimensional (3D) computed tomography (CT) images and develop a stature estimation formula for a Japanese population. In total, 307 and 72 identified cadavers who underwent postmortem CT were selected as the \"training\" and \"validation\" datasets, respectively, to derive a stature estimation formula. Four mandibular bone measurements (linear distances between the bilateral mandibular condyles: C-C, from the mental spine to the mandibular condyle: S-C, between the bilateral mandibular foramen: F-F, and from the mental spine to the mandibular foramen: S-F) were obtained from 3D CT-reconstructed images that included only the mandibular bone. Correlations between stature and each of the mandibular bone measurements were assessed using Pearson product-moment correlation coefficients. Multiple stepwise regression analyses (including and excluding sex status) were performed using all measurements to develop the stature estimation formula, and its accuracy was validated. Significant correlations were observed between the mandibular bone measurements and stature. The correlation coefficients were 0.668, 0.699, 0.705, and 0.669 for C-C, S-C, F-F, and S-F, respectively. R<sup>2</sup> was 0.660 and 0.615, and the standard error of estimation (SEE) was 6.13 and 6.53 cm for including and excluding sex status, respectively. The validation test confirmed its accuracy. In conclusion, mandibular bone measurements based on 3D CT images may be useful for stature estimation in Japanese individuals in forensic investigations, particularly in cases where better predictors, such as long bones, are unavailable.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102566"},"PeriodicalIF":1.3,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142933405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-27DOI: 10.1016/j.legalmed.2024.102565
Radu Moldovan, Vlad Andrei Ichim, Vladimir Beliș
{"title":"Immunohistochemical study of ATP1A3 and plakophilin 2 as new potential markers in the diagnosis of myocardial ischemia.","authors":"Radu Moldovan, Vlad Andrei Ichim, Vladimir Beliș","doi":"10.1016/j.legalmed.2024.102565","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102565","url":null,"abstract":"","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102565"},"PeriodicalIF":1.3,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142903988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-19DOI: 10.1016/j.legalmed.2024.102562
Laetitia Afonso, Mélanie Voyer, Michel Sapanet, Ghina Harika-Germaneau, Alexia Delbreil
In the past several years, children and adolescents have increasingly been enticed into playing dangerous and challenging games, particularly through social networks. Epidemiological data regarding this phenomenon are particularly difficult to come by, as is information regarding the somatic and psychological consequences of these activities, which can end up having fatal outcomes. We here report the case of a suspicion of child abuse that turned out to be due to participation in a challenge game known as "The Deodorant Challenge" by a 10-year-old child who presented with burn-like lesions. Collaboration with the police and assessment of the psychopathological profile of the child allowed the self-inflicted nature of the injuries to be identified, thereby allowing intrafamilial abuse to be ruled out as the cause of the injuries.
{"title":"Let's \"game\" it!: Dangerous games, a new health challenge.","authors":"Laetitia Afonso, Mélanie Voyer, Michel Sapanet, Ghina Harika-Germaneau, Alexia Delbreil","doi":"10.1016/j.legalmed.2024.102562","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102562","url":null,"abstract":"<p><p>In the past several years, children and adolescents have increasingly been enticed into playing dangerous and challenging games, particularly through social networks. Epidemiological data regarding this phenomenon are particularly difficult to come by, as is information regarding the somatic and psychological consequences of these activities, which can end up having fatal outcomes. We here report the case of a suspicion of child abuse that turned out to be due to participation in a challenge game known as \"The Deodorant Challenge\" by a 10-year-old child who presented with burn-like lesions. Collaboration with the police and assessment of the psychopathological profile of the child allowed the self-inflicted nature of the injuries to be identified, thereby allowing intrafamilial abuse to be ruled out as the cause of the injuries.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102562"},"PeriodicalIF":1.3,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142928450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Aconitum herbs contain several highly toxic diester-diterpenoid alkaloids, including aconitine, mesaconitine, and hypaconitine. However, finding the cause of death is rather difficult for forensic pathologists during forensic autopsy of aconitine-induced death. Therefore, the ability to determine Aconitum alkaloids is important in these cases. The aim of this study was to review the data for alkaloids in postmortem specimens from 25 aconitine-induced deaths received by the Academy of Forensic Science from 2005 to 2023. Aconitum alkaloids were analyzed using an LC-MS/MS method, which was validated for blood, urine, and liver tissue. Briefly, 0.5 mL (g) of biological sample was subjected to liquid-liquid extraction with diethyl ether at pH 9.2. In 25 aconitine-induced deaths, the blood levels of aconitine, mesaconitine, and hypaconitine were 2.9-470 ng/mL (n = 22), <LOQ-30 ng/mL (n = 10), and <LOQ-5.0 ng/mL (n = 10), respectively. In some cases, other biological samples (e.g., urine, gastric contents, and liver tissue) and the materials seized on site (e.g., homemade medicinal liquor) were also analyzed. A significant positive correlation was observed between the biological samples and the seized materials for the concentration ratios of aconitine to mesaconitine and of aconitine to hypaconitine. The risk of aconite poisoning is increased by inappropriate administration, including drinking of homemade medicinal liquors containing Aconitum alkaloids, the use of unprocessed or improperly processed Aconitum plant material, and excessive consumption or misuse without doctors' directions. Accidental death caused by misuse of herbal drugs was the main cause of death in the 25 aconitine-induced deaths studied here.
{"title":"Toxicological investigation of 25 aconitine-induced deaths from 2005 to 2023.","authors":"Xinying Wang, Xin Wang, Wei Liu, Hang Chen, Zhen Zhang, Yunli Zhao, Ping Xiang","doi":"10.1016/j.legalmed.2024.102564","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102564","url":null,"abstract":"<p><p>Aconitum herbs contain several highly toxic diester-diterpenoid alkaloids, including aconitine, mesaconitine, and hypaconitine. However, finding the cause of death is rather difficult for forensic pathologists during forensic autopsy of aconitine-induced death. Therefore, the ability to determine Aconitum alkaloids is important in these cases. The aim of this study was to review the data for alkaloids in postmortem specimens from 25 aconitine-induced deaths received by the Academy of Forensic Science from 2005 to 2023. Aconitum alkaloids were analyzed using an LC-MS/MS method, which was validated for blood, urine, and liver tissue. Briefly, 0.5 mL (g) of biological sample was subjected to liquid-liquid extraction with diethyl ether at pH 9.2. In 25 aconitine-induced deaths, the blood levels of aconitine, mesaconitine, and hypaconitine were 2.9-470 ng/mL (n = 22), <LOQ-30 ng/mL (n = 10), and <LOQ-5.0 ng/mL (n = 10), respectively. In some cases, other biological samples (e.g., urine, gastric contents, and liver tissue) and the materials seized on site (e.g., homemade medicinal liquor) were also analyzed. A significant positive correlation was observed between the biological samples and the seized materials for the concentration ratios of aconitine to mesaconitine and of aconitine to hypaconitine. The risk of aconite poisoning is increased by inappropriate administration, including drinking of homemade medicinal liquors containing Aconitum alkaloids, the use of unprocessed or improperly processed Aconitum plant material, and excessive consumption or misuse without doctors' directions. Accidental death caused by misuse of herbal drugs was the main cause of death in the 25 aconitine-induced deaths studied here.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102564"},"PeriodicalIF":1.3,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-16DOI: 10.1016/j.legalmed.2024.102563
Andrea Gentilomo, Stefano Tambuzzi, Guendalina Gentile, Riccardo Zoja
{"title":"Letter to the Editor regarding the Article \"Complex suicides involving the use of firearms and hanging: A retrospective study and review of the literature\".","authors":"Andrea Gentilomo, Stefano Tambuzzi, Guendalina Gentile, Riccardo Zoja","doi":"10.1016/j.legalmed.2024.102563","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102563","url":null,"abstract":"","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102563"},"PeriodicalIF":1.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142866131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-15DOI: 10.1016/j.legalmed.2024.102561
Dong Gyu Lee, Jung-Eun Kim, Ji Hwan Park, Mi-Jung Kim, Man Il Kim, Si-Keun Lim, Ju Yeon Jung
Owing to the unique inheritance pattern of the X chromosome, X-chromosomal short tandem repeat (X-STR) analysis represents a valuable tool in forensic DNA examination-particularly in complex kinship cases, missing person investigations, and disaster victim identification. We analyzed buccal swabs from 429 unrelated Korean males for forensic statistical parameters of 12 X-STRs. Among the 427 individuals analyzed (2 were excluded), DXS10135 was the most informative marker (polymorphism information content [PIC] = 0.9131) and DXS7423 the least informative (PIC = 0.4250). When analyzed based on the four linkage groups (LGs), each individual had unique 12 X-STR haplotypes, with LG1 showing the highest haplotype diversity (0.9968) and the most common haplotype frequency (0.0164). LG1 was also the most informative (PIC = 0.9945), followed by LG3, LG4, and LG2 (with haplotype diversities of 0.9882-0.9968). Our analysis shows that Koreans clustered with East Asians, displayed strong genetic similarity, but differed significantly from Emirati Arabs, Brazilians, Argentinians, and Europeans, forming three distinct clusters influenced by historical and geographical factors. Within the examined X-STR haplotypes, biallelic patterns were identified in two instances: one involved a duplication at DXS10146, as indicated by relative peak height and normalized peak height ratio analysis, and the other encompassed eight loci, where balanced peak heights (72.51 %) and an X peak height imbalance at the amelogenin locus (59.69 %) were indicative of Klinefelter syndrome with sex chromosome aneuploidy. The 12 X-STR loci are informative and discriminatory in the Korean population, providing critical insights for forensic applications and genetic research.
{"title":"Allelic and haplotype diversity of 12 X-chromosomal short tandem repeats in Koreans, with an analysis of anomalous profiles.","authors":"Dong Gyu Lee, Jung-Eun Kim, Ji Hwan Park, Mi-Jung Kim, Man Il Kim, Si-Keun Lim, Ju Yeon Jung","doi":"10.1016/j.legalmed.2024.102561","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102561","url":null,"abstract":"<p><p>Owing to the unique inheritance pattern of the X chromosome, X-chromosomal short tandem repeat (X-STR) analysis represents a valuable tool in forensic DNA examination-particularly in complex kinship cases, missing person investigations, and disaster victim identification. We analyzed buccal swabs from 429 unrelated Korean males for forensic statistical parameters of 12 X-STRs. Among the 427 individuals analyzed (2 were excluded), DXS10135 was the most informative marker (polymorphism information content [PIC] = 0.9131) and DXS7423 the least informative (PIC = 0.4250). When analyzed based on the four linkage groups (LGs), each individual had unique 12 X-STR haplotypes, with LG1 showing the highest haplotype diversity (0.9968) and the most common haplotype frequency (0.0164). LG1 was also the most informative (PIC = 0.9945), followed by LG3, LG4, and LG2 (with haplotype diversities of 0.9882-0.9968). Our analysis shows that Koreans clustered with East Asians, displayed strong genetic similarity, but differed significantly from Emirati Arabs, Brazilians, Argentinians, and Europeans, forming three distinct clusters influenced by historical and geographical factors. Within the examined X-STR haplotypes, biallelic patterns were identified in two instances: one involved a duplication at DXS10146, as indicated by relative peak height and normalized peak height ratio analysis, and the other encompassed eight loci, where balanced peak heights (72.51 %) and an X peak height imbalance at the amelogenin locus (59.69 %) were indicative of Klinefelter syndrome with sex chromosome aneuploidy. The 12 X-STR loci are informative and discriminatory in the Korean population, providing critical insights for forensic applications and genetic research.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102561"},"PeriodicalIF":1.3,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142856562","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: The aim of this study was to estimate the legal age using the parameters obtained from radiomic analysis of the mandibular condyle in cone beam computed tomography (CBCT) images.
Material and methods: The study group consisted of 300 mandibular condyles, which were categorized into six groups based on the age of the patients: 8-11 years, 12-14 years, 15-17 years, 18-20 years, 21-23 years, and over 24 years. Each patient's condyle was segmented individually using the 3D Slicer program. Radiomic features were extracted from the segmented images using the SlicerRadiomics plugin. Subsequently, three distinct models were developed with reference to three specific subgroups of the 12-14 age group, 15-17 age group, 18-20 age group and the efficacy of radiomic features in predicting the age of the patient was evaluated.
Results: The ROC analysis of the three radiomics scores (RS) yielded AUC values of 0.927, 0.860, and 0.769 for RS12-14, RS15-17, and RS18-20, respectively. The RS12-14 model exhibited the highest sensitivity and specificity values among the models, with 88% and 84.4%, respectively.
Conclusion: Among the radiomic features extracted from the mandibular condyle in CBCT images, the most significant features, identified based on developed models and their respective coefficients, can be applied to estimate patients' ages. Future studies hold substantial potential for advancing this method, particularly in automating both the segmentation process and the derivation of formulae for age estimation. The use of radiomic features for age prediction presents a promising alternative method for developing fully automated systems in clinical practice.
{"title":"Age estimation by radiomics analysis of mandibular condylar cone beam computed tomography images.","authors":"Aytaç Üzel, Alican Kuran, Oğuz Baysal, Umut Seki, Enver Alper Sinanoglu","doi":"10.1016/j.legalmed.2024.102560","DOIUrl":"https://doi.org/10.1016/j.legalmed.2024.102560","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to estimate the legal age using the parameters obtained from radiomic analysis of the mandibular condyle in cone beam computed tomography (CBCT) images.</p><p><strong>Material and methods: </strong>The study group consisted of 300 mandibular condyles, which were categorized into six groups based on the age of the patients: 8-11 years, 12-14 years, 15-17 years, 18-20 years, 21-23 years, and over 24 years. Each patient's condyle was segmented individually using the 3D Slicer program. Radiomic features were extracted from the segmented images using the SlicerRadiomics plugin. Subsequently, three distinct models were developed with reference to three specific subgroups of the 12-14 age group, 15-17 age group, 18-20 age group and the efficacy of radiomic features in predicting the age of the patient was evaluated.</p><p><strong>Results: </strong>The ROC analysis of the three radiomics scores (RS) yielded AUC values of 0.927, 0.860, and 0.769 for RS<sub>12-14</sub>, RS<sub>15-17</sub>, and RS<sub>18-20</sub>, respectively. The RS<sub>12-14</sub> model exhibited the highest sensitivity and specificity values among the models, with 88% and 84.4%, respectively.</p><p><strong>Conclusion: </strong>Among the radiomic features extracted from the mandibular condyle in CBCT images, the most significant features, identified based on developed models and their respective coefficients, can be applied to estimate patients' ages. Future studies hold substantial potential for advancing this method, particularly in automating both the segmentation process and the derivation of formulae for age estimation. The use of radiomic features for age prediction presents a promising alternative method for developing fully automated systems in clinical practice.</p>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"102560"},"PeriodicalIF":1.3,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142878425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}