Pub Date : 2025-02-01DOI: 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":"10.1016/j.legalmed.2025.102567","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102567"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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":"10.1016/j.legalmed.2024.102562","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102562"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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}
Pub Date : 2025-02-01DOI: 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":"10.1016/j.legalmed.2024.102565","url":null,"abstract":"","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102565"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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 : 2025-02-01DOI: 10.1016/j.legalmed.2024.102557
Beáta Ágnes Borsay , Barbara Dóra Halasi , Róbert Kristóf Pórszász , Péter Attila Gergely
The focus is on unnatural death in forensic pathology including criminal death. One special field is the murder-suicide or homicide-suicide. It is a relatively rare occurrence worldwide mainly with male perpetrators and female victims. The authors report a case about a special type of homicide-suicide which is so-called intimate partner homicide (femicide)-suicide in which the victim was a 42-year-old woman with more than 55 incised- (cuts, stabs, etc.) and blunt force injuries with external examination. The resuscitation was unsuccessful by the paramedics. Not one of the wounds was incompatible with life, some of them had life-threatening conditions, and numerous self-defense type of wounds were observed. Not so far from the crime scene, the 48-year-old perpetrator’s hanging corpse was found on a high voltage electric column who previously committed suicide, talked to one of his daughters from his first marriage, left money at his funeral, and asserted he would not have gone to prison again. The authors compared this case with the international literature data.
{"title":"Homicide-suicide as domestic violence: A case report with a little literature review","authors":"Beáta Ágnes Borsay , Barbara Dóra Halasi , Róbert Kristóf Pórszász , Péter Attila Gergely","doi":"10.1016/j.legalmed.2024.102557","DOIUrl":"10.1016/j.legalmed.2024.102557","url":null,"abstract":"<div><div>The focus is on unnatural death in forensic pathology including criminal death. One special field is the murder-suicide or homicide-suicide. It is a relatively rare occurrence worldwide mainly with male perpetrators and female victims. The authors report a case about a special type of homicide-suicide which is so-called intimate partner homicide (femicide)-suicide in which the victim was a 42-year-old woman with more than 55 incised- (cuts, stabs, etc.) and blunt force injuries with external examination. The resuscitation was unsuccessful by the paramedics. Not one of the wounds was incompatible with life, some of them had life-threatening conditions, and numerous self-defense type of wounds were observed. Not so far from the crime scene, the 48-year-old perpetrator’s hanging corpse was found on a high voltage electric column who previously committed suicide, talked to one of his daughters from his first marriage, left money at his funeral, and asserted he would not have gone to prison again. The authors compared this case with the international literature data.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102557"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142787490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.legalmed.2024.102564
Xinying Wang , Xin Wang , Wei Liu , Hang Chen , Zhen Zhang , Yunli Zhao , Ping Xiang
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.
乌头草含有几种剧毒的二酯二萜生物碱，包括乌头碱、中乌头碱和次乌头碱。然而，在乌头碱致死的法医尸检中，法医病理学家很难找到死亡原因。因此，在这些情况下，测定乌头生物碱的能力是重要的。本研究的目的是审查法医科学院从2005年到2023年收到的25例乌头碱诱发死亡的尸检标本中生物碱的数据。采用LC-MS/MS法对乌头生物碱进行分析，并在血液、尿液和肝脏组织中进行验证。简单地说，取0.5 mL (g)生物样品，在pH 9.2条件下用乙醚液液萃取。在25例乌头碱致死亡病例中，乌头碱、中乌头碱和次乌头碱的血药浓度分别为2.9 ~ 470 ng/mL （n = 22）、
{"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":"10.1016/j.legalmed.2024.102564","url":null,"abstract":"<div><div><em>Aconitum</em> 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 <em>Aconitum</em> 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. <em>Aconitum</em> 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 (<em>n</em> = 22), ＜LOQ–30 ng/mL (<em>n</em> = 10), and ＜LOQ–5.0 ng/mL (<em>n</em> = 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 <em>Aconitum</em> alkaloids, the use of unprocessed or improperly processed <em>Aconitum</em> 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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102564"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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}
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":"10.1016/j.legalmed.2024.102566","url":null,"abstract":"<div><div>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.</div><div>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.</div><div>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.</div><div>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. <em>R</em><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.</div><div>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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102566"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-01DOI: 10.1016/j.legalmed.2024.102558
Shuai Luo , Fei Fan , Meng Liu , Li-rong Qiu , Meng‑jun Zhan , Yu-chi Zhou , Hui-kun Yang , Hu Chen , Xue-ling Chen , Zhen‑hua Deng
This case presents a unique age estimation involving Chinese Tibetan twins, where one of them has been arrested for alleged rape. His parents claimed he was about 13 years old without providing any official age documentation. Since age is important in criminal proceedings in China, bone age estimation was conducted to determine the chronological age of the twins. The twins underwent a physical examination, X-rays of the left hand/wrist, and pelvis, and a CT scan of the clavicle. Two age estimation standards in China were used: “Skeletal Maturity and Assessment Methods of Hand and Wrist for Chinese” (China-05 standard), and “Technical Specifications for Skeletal Age Evaluation of Han Population Teenagers” (TSSHPT standard). The bone radiographs showed that most of the twins’ epiphyseal development was similar, with only slight differences observed in the distal radius, distal ulna, and iliac crest apophysis. The results of the two methods showed differences in the range of predicted ages. Applying the RUS-CHN method to hand/wrist images, the estimated age of the suspect was determined to be 16–16.5 years old, while his brother’s age was 15.5–16 years old. Applying the TSSHPT standard to all three images, the estimated age of the suspect was 17–17.5 years old, while his brother’s age was estimated to be 16.5–17 years old.
In this case, two commonly used methods for age estimation were introduced. The disparity in age estimations using the RUS-CHN and TSSHPT standards, with the age of the suspect ranging from 16 to 17.5 years. This case revealed that the choice of bone age estimation method can significantly impact the result of estimated age, which has important implications for legal proceedings. Additionally, the minor differences in skeletal maturity between the twins emphasize the need to account for individual variations, even among genetically similar individuals. Furthermore, this case contributes to the broader discourse on the effectiveness of skeletal age estimation methods across diverse populations, underscoring the necessity for tailored evaluation standards that consider genetic and environmental diversity.
{"title":"Age assessment of Chinese Tibetan twins using multiple skeletal age estimation methods: A case report","authors":"Shuai Luo , Fei Fan , Meng Liu , Li-rong Qiu , Meng‑jun Zhan , Yu-chi Zhou , Hui-kun Yang , Hu Chen , Xue-ling Chen , Zhen‑hua Deng","doi":"10.1016/j.legalmed.2024.102558","DOIUrl":"10.1016/j.legalmed.2024.102558","url":null,"abstract":"<div><div>This case presents a unique age estimation involving Chinese Tibetan twins, where one of them has been arrested for alleged rape. His parents claimed he was about 13 years old without providing any official age documentation. Since age is important in criminal proceedings in China, bone age estimation was conducted to determine the chronological age of the twins. The twins underwent a physical examination, X-rays of the left hand/wrist, and pelvis, and a CT scan of the clavicle. Two age estimation standards in China were used: “Skeletal Maturity and Assessment Methods of Hand and Wrist for Chinese” (China-05 standard), and “Technical Specifications for Skeletal Age Evaluation of Han Population Teenagers” (TSSHPT standard). The bone radiographs showed that most of the twins’ epiphyseal development was similar, with only slight differences observed in the distal radius, distal ulna, and iliac crest apophysis. The results of the two methods showed differences in the range of predicted ages. Applying the RUS-CHN method to hand/wrist images, the estimated age of the suspect was determined to be 16–16.5 years old, while his brother’s age was 15.5–16 years old. Applying the TSSHPT standard to all three images, the estimated age of the suspect was 17–17.5 years old, while his brother’s age was estimated to be 16.5–17 years old.</div><div>In this case, two commonly used methods for age estimation were introduced. The disparity in age estimations using the RUS-CHN and TSSHPT standards, with the age of the suspect ranging from 16 to 17.5 years. This case revealed that the choice of bone age estimation method can significantly impact the result of estimated age, which has important implications for legal proceedings. Additionally, the minor differences in skeletal maturity between the twins emphasize the need to account for individual variations, even among genetically similar individuals. Furthermore, this case contributes to the broader discourse on the effectiveness of skeletal age estimation methods across diverse populations, underscoring the necessity for tailored evaluation standards that consider genetic and environmental diversity.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102558"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830692","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 : 2025-02-01DOI: 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":"10.1016/j.legalmed.2024.102561","url":null,"abstract":"<div><div>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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102561"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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}
Pub Date : 2025-02-01DOI: 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":"10.1016/j.legalmed.2025.102569","url":null,"abstract":"<div><div>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.</div><div>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 <em>Serotype 23B Streptococcus pneumoniae</em> infection.</div><div>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.</div></div>","PeriodicalId":49913,"journal":{"name":"Legal Medicine","volume":"72 ","pages":"Article 102569"},"PeriodicalIF":1.3,"publicationDate":"2025-02-01","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}
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