Pub Date : 2024-11-25DOI: 10.1007/s00414-024-03375-0
Sari Matsumoto, Shojiro Takasu, Yuko Kanto, Kimiharu Iwadate
Acrolein, a polyamine produced from spermine during brain infarction, has recently been used in clinical settings for brain infarction risk assessment. However, few studies have investigated the diagnostic usefulness of acrolein measurement in postmortem specimens. In this study, we measured the acrolein concentration in postmortem specimens to assess its potential as a marker for stroke diagnosis. Acrolein concentrations in the serum and urine were measured using an enzyme-linked immunosorbent assay in 25, 19, 21, and 93 brain infarction, subarachnoid hemorrhage, cerebral hemorrhage, and control cases, respectively. No correlations or significant differences were observed between the acrolein concentrations in blood or urine, age, time since death, or sex. However, the serum acrolein concentrations increased significantly in cases of brain infarction, subarachnoid hemorrhage, and cerebral hemorrhage compared with non-stroke cases, with diagnostic cutoff values of 117.1, 119.9, and 130.3 nmol/mL, respectively. Conversely, the urinary acrolein concentrations decreased in specimens from subarachnoid hemorrhage and cerebral hemorrhage cases, suggesting dilution due to higher urine volumes. In conclusion, our findings suggest that serum acrolein concentration remains unaffected by the time elapsed after death. Moreover, the measurement of serum acrolein in postmortem specimens is effective in diagnosing stroke.
{"title":"Measurement of acrolein concentrations in postmortem specimens as an indicator for stroke diagnosis.","authors":"Sari Matsumoto, Shojiro Takasu, Yuko Kanto, Kimiharu Iwadate","doi":"10.1007/s00414-024-03375-0","DOIUrl":"https://doi.org/10.1007/s00414-024-03375-0","url":null,"abstract":"<p><p>Acrolein, a polyamine produced from spermine during brain infarction, has recently been used in clinical settings for brain infarction risk assessment. However, few studies have investigated the diagnostic usefulness of acrolein measurement in postmortem specimens. In this study, we measured the acrolein concentration in postmortem specimens to assess its potential as a marker for stroke diagnosis. Acrolein concentrations in the serum and urine were measured using an enzyme-linked immunosorbent assay in 25, 19, 21, and 93 brain infarction, subarachnoid hemorrhage, cerebral hemorrhage, and control cases, respectively. No correlations or significant differences were observed between the acrolein concentrations in blood or urine, age, time since death, or sex. However, the serum acrolein concentrations increased significantly in cases of brain infarction, subarachnoid hemorrhage, and cerebral hemorrhage compared with non-stroke cases, with diagnostic cutoff values of 117.1, 119.9, and 130.3 nmol/mL, respectively. Conversely, the urinary acrolein concentrations decreased in specimens from subarachnoid hemorrhage and cerebral hemorrhage cases, suggesting dilution due to higher urine volumes. In conclusion, our findings suggest that serum acrolein concentration remains unaffected by the time elapsed after death. Moreover, the measurement of serum acrolein in postmortem specimens is effective in diagnosing stroke.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-23DOI: 10.1007/s00414-024-03372-3
Alexandra Wulff, Joanna F Dipnall, Richard G D Fernandez, Emma C Cheshire, Michael J P Biggs, Hans de Boer, Samantha K Rowbotham
Globally, thousands of truck occupants die annually from motor vehicle incidents. During medico-legal investigations of such incidents, forensic practitioners are required to undertake thorough examinations of the injuries present. Despite this, very few studies assessing skeletal fractures in particular, in deceased truck occupants are currently available in the literature for practitioners. Consequently, this research aimed to investigate the whole-body skeletal fracture patterns resulting from fatal truck incidents. The study group comprised 62 adult truck occupants who died in motor vehicle incidents between 2006 and 2020 and were examined at the Victorian Institute of Forensic Medicine, Australia, and the East Midlands Forensic Pathology Unit, United Kingdom. Available intrinsic and extrinsic variable information was extracted from medico-legal reports and fracture patterns were documented using associated post-mortem computed tomography scans. Descriptive and basic inferential statistics were performed to analyse the pattern and extent of fracturing, and where possible, the role of variables. The study found 97% of occupants exhibited skeletal blunt force trauma, with 94% fracturing multiple anatomical regions. The thorax (85%), followed by the skull (63%) and cervical vertebrae (56%) comprised the most fractured and fragmented skeletal regions, whilst the upper limb (23%) and pelvic girdle (31%) were fractured least often. The variables body mass index, impact velocity and truck type were associated with fracture patterning. This research provides medico-legal investigators with a greater evidence base of the fracture patterns that result from fatal truck incidents, including the patterning, complexity and quantity of fracturing, and the potential mechanisms behind them.
{"title":"Investigating skeletal fracture patterns in truck occupants involved in fatal motor vehicle incidents.","authors":"Alexandra Wulff, Joanna F Dipnall, Richard G D Fernandez, Emma C Cheshire, Michael J P Biggs, Hans de Boer, Samantha K Rowbotham","doi":"10.1007/s00414-024-03372-3","DOIUrl":"https://doi.org/10.1007/s00414-024-03372-3","url":null,"abstract":"<p><p>Globally, thousands of truck occupants die annually from motor vehicle incidents. During medico-legal investigations of such incidents, forensic practitioners are required to undertake thorough examinations of the injuries present. Despite this, very few studies assessing skeletal fractures in particular, in deceased truck occupants are currently available in the literature for practitioners. Consequently, this research aimed to investigate the whole-body skeletal fracture patterns resulting from fatal truck incidents. The study group comprised 62 adult truck occupants who died in motor vehicle incidents between 2006 and 2020 and were examined at the Victorian Institute of Forensic Medicine, Australia, and the East Midlands Forensic Pathology Unit, United Kingdom. Available intrinsic and extrinsic variable information was extracted from medico-legal reports and fracture patterns were documented using associated post-mortem computed tomography scans. Descriptive and basic inferential statistics were performed to analyse the pattern and extent of fracturing, and where possible, the role of variables. The study found 97% of occupants exhibited skeletal blunt force trauma, with 94% fracturing multiple anatomical regions. The thorax (85%), followed by the skull (63%) and cervical vertebrae (56%) comprised the most fractured and fragmented skeletal regions, whilst the upper limb (23%) and pelvic girdle (31%) were fractured least often. The variables body mass index, impact velocity and truck type were associated with fracture patterning. This research provides medico-legal investigators with a greater evidence base of the fracture patterns that result from fatal truck incidents, including the patterning, complexity and quantity of fracturing, and the potential mechanisms behind them.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-19DOI: 10.1007/s00414-024-03352-7
Giovanni Aulino, Francesco Ausania, Paolo Fais, Giovanni Cecchetto, Davide Ferorelli, Silvia Damiana Visonà, Flavia Beccia, Stefania Boccia, Antonio Lanzone, Luca Morini, Guido Viel, Francesco Ventura, Alessandro Dell'Erba, Giancarlo Di Vella, Domenico De Leo, Antonio Oliva
Introduction: This study aimed to assess students' knowledge, awareness, and attitudes regarding forensic-medicine concepts taught during a Medicine and Surgery degree program at eight Italian universities. Additionally, the study aimed to evaluate the impact of the course on students' knowledge and attitudes toward choosing medical residency.
Materials and methods: A cross-sectional study was conducted through an anonymous web-based survey of medical students at eight italian universities. Descriptive, univariate, and logistic regression analyses were performed for the selected questions.
Results: The survey was completed by 1022 students. Forensic medicine appears to be important for providing training in the fundamental concepts of forensic medicine, especially professional liability, defensive medicine, and forensic pathology. The descriptive and univariate analyses demonstrate that the course can assist students in choosing their specialisation school. The multivariate analysis highlighted the impact of the forensic medicine course on orienting students' choice of medical residency, increasing it by nine times after attending the course. In the logistic regression analysis of the influence of medical liability on the choice of medical residency, students recognised a doubled effect after attending the course. Finally, the perceived usefulness of the course was significantly higher after attendance.
Conclusions: Forensic medicine courses have the task of defining the duties and responsibilities of forensic physicians, providing indispensable tools for future medical practitioners regardless of their future specialisation, and limiting the increasing use of defensive medicine. In conclusion, it is imperative for governments to implement measures directed at diminishing the risk of burnout arising from the ongoing pressure associated with the fear of medicolegal litigation, encompassing both criminal and civil contexts.
{"title":"Assessment of forensic medicine education impact on medical students' knowledge and specialisation attitudes: a multicenter analysis from Italian universities.","authors":"Giovanni Aulino, Francesco Ausania, Paolo Fais, Giovanni Cecchetto, Davide Ferorelli, Silvia Damiana Visonà, Flavia Beccia, Stefania Boccia, Antonio Lanzone, Luca Morini, Guido Viel, Francesco Ventura, Alessandro Dell'Erba, Giancarlo Di Vella, Domenico De Leo, Antonio Oliva","doi":"10.1007/s00414-024-03352-7","DOIUrl":"10.1007/s00414-024-03352-7","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to assess students' knowledge, awareness, and attitudes regarding forensic-medicine concepts taught during a Medicine and Surgery degree program at eight Italian universities. Additionally, the study aimed to evaluate the impact of the course on students' knowledge and attitudes toward choosing medical residency.</p><p><strong>Materials and methods: </strong>A cross-sectional study was conducted through an anonymous web-based survey of medical students at eight italian universities. Descriptive, univariate, and logistic regression analyses were performed for the selected questions.</p><p><strong>Results: </strong>The survey was completed by 1022 students. Forensic medicine appears to be important for providing training in the fundamental concepts of forensic medicine, especially professional liability, defensive medicine, and forensic pathology. The descriptive and univariate analyses demonstrate that the course can assist students in choosing their specialisation school. The multivariate analysis highlighted the impact of the forensic medicine course on orienting students' choice of medical residency, increasing it by nine times after attending the course. In the logistic regression analysis of the influence of medical liability on the choice of medical residency, students recognised a doubled effect after attending the course. Finally, the perceived usefulness of the course was significantly higher after attendance.</p><p><strong>Conclusions: </strong>Forensic medicine courses have the task of defining the duties and responsibilities of forensic physicians, providing indispensable tools for future medical practitioners regardless of their future specialisation, and limiting the increasing use of defensive medicine. In conclusion, it is imperative for governments to implement measures directed at diminishing the risk of burnout arising from the ongoing pressure associated with the fear of medicolegal litigation, encompassing both criminal and civil contexts.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667936","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-18DOI: 10.1007/s00414-024-03370-5
Bertrand Pierre Ludes, Arthur Chambre, Tania Delabarde
This article evaluates the criteria for diatom testing in forensic investigations, focusing on drowning cases. Diatoms, unicellular algae found in aquatic environments, are critical to the determination of drowning because water containing diatoms is inhaled during submersion. The primary objectives include defining the exact amount and type of tissue to be analyzed, expressed in terms of diatom concentration relative to tissue weight, and detailing the conditions under which water samples are collected to study the diatom flora at the site. In addition, the importance of accurately identifying diatom taxa and comparing them by unit weight is emphasized. To improve the reliability of diatom testing, the study discusses advanced methods such as microwave digestion, vacuum filtration, and automated scanning electron microscopy (MD-VF-Auto SEM), which offer higher sensitivity and specificity. The integration of DNA sequencing and deep learning techniques is explored, offering promising improvements in diatom detection and classification. These advances aim to reduce false positives and improve the accuracy of determining drowning as the cause of death. The article highlights the need for standardized protocols for diatom testing to ensure consistency and reliability. By incorporating new technologies and refining existing methods, the forensic application of diatom testing can be significantly improved, allowing for more accurate and reliable conclusions in drowning investigations.
本文以溺水案件为重点,评估了法医调查中硅藻检测的标准。硅藻是水生环境中发现的单细胞藻类,对溺水的判定至关重要,因为含有硅藻的水会在浸入水中时被吸入。主要目标包括确定要分析的组织的确切数量和类型(以硅藻浓度相对于组织重量表示),并详细说明在什么条件下收集水样以研究现场的硅藻群。此外,还强调了准确识别硅藻类群并按单位重量进行比较的重要性。为了提高硅藻检测的可靠性,该研究讨论了微波消解、真空过滤和自动扫描电子显微镜(MD-VF-Auto SEM)等先进方法,这些方法具有更高的灵敏度和特异性。此外,还探讨了 DNA 测序与深度学习技术的整合,从而有望改进硅藻检测和分类。这些进步旨在减少误报,提高将溺水确定为死因的准确性。文章强调了硅藻检测标准化协议的必要性,以确保一致性和可靠性。通过采用新技术和改进现有方法,硅藻检测的法医应用可以得到显著改善,从而在溺水调查中得出更准确、更可靠的结论。
{"title":"The diatom test in the field of forensic medicine: a review of a long-standing question.","authors":"Bertrand Pierre Ludes, Arthur Chambre, Tania Delabarde","doi":"10.1007/s00414-024-03370-5","DOIUrl":"https://doi.org/10.1007/s00414-024-03370-5","url":null,"abstract":"<p><p>This article evaluates the criteria for diatom testing in forensic investigations, focusing on drowning cases. Diatoms, unicellular algae found in aquatic environments, are critical to the determination of drowning because water containing diatoms is inhaled during submersion. The primary objectives include defining the exact amount and type of tissue to be analyzed, expressed in terms of diatom concentration relative to tissue weight, and detailing the conditions under which water samples are collected to study the diatom flora at the site. In addition, the importance of accurately identifying diatom taxa and comparing them by unit weight is emphasized. To improve the reliability of diatom testing, the study discusses advanced methods such as microwave digestion, vacuum filtration, and automated scanning electron microscopy (MD-VF-Auto SEM), which offer higher sensitivity and specificity. The integration of DNA sequencing and deep learning techniques is explored, offering promising improvements in diatom detection and classification. These advances aim to reduce false positives and improve the accuracy of determining drowning as the cause of death. The article highlights the need for standardized protocols for diatom testing to ensure consistency and reliability. By incorporating new technologies and refining existing methods, the forensic application of diatom testing can be significantly improved, allowing for more accurate and reliable conclusions in drowning investigations.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Estimation of the age of epidural hematoma (EDH) is a challenge in clinical forensic medicine, and this issue has yet to be conclusively resolved. The advantages of objectivity and non-invasiveness make computing tomography (CT) imaging an potential diagnostic method for EDH in living individuals. Recently, radiomics, the extraction hidden information from medical images, has emerged as a promising method for constructing predictive models. The aim of this study is to explore the feasibility and applicability of CT-based radiomics in predicting the timing of EDH injuries in surviving victims. A cohort of 95 EDH cases with definite injured time (within 12 h since injury) was selected. Clinical characteristics (age, gender, injury time, bleeding location, bleeding volume, and fracture) were recorded. The datasets were divided randomly into training and test cohorts. LIFEx software was used to segment the hematoma area in the CT and extract radiomic features. Machine learning algorithms were applied for features selection and model building. Twenty-three features were selected to calculate the Radscore, a key metric in our analysis. Utilizing this Radscore in conjunction with the time since injury, we constructed an Ordinary Least Squared (OLS) model. Our validation study has shown that mean absolute error (MAE) of the test cohort was 2.42 h, indicating a high degree of accuracy. In order to enhance the accuracy of prediction, the dataset was divided into unstable phase, occurring within the first 5 h post injury, and the stable phases. The Random Forest algorithm presented a significant divergence in predictive performance between the two phases, achieving an area under the curve (AUC) of 0.79, with an accuracy of 75.86%. The MAE of the regression model was 1.05 h for the unstable phase, and 1.23 h for the stable phase. Our findings underscore the potential of CT-based radiomics to offer a novel, convenient, and efficient approach to dating EDH, promising to illuminate new avenues in the field of medical diagnostics.
{"title":"Computer tomography-based radiomics combined with machine learning for predicting the time since onset of epidural hematoma.","authors":"Mingzhe Wu, Pengfei Wang, Hao Cheng, Ziyuan Chen, Ning Wang, Ziwei Wang, Chen Li, Linlin Wang, Dawei Guan, Hongzan Sun, Rui Zhao","doi":"10.1007/s00414-024-03374-1","DOIUrl":"https://doi.org/10.1007/s00414-024-03374-1","url":null,"abstract":"<p><p>Estimation of the age of epidural hematoma (EDH) is a challenge in clinical forensic medicine, and this issue has yet to be conclusively resolved. The advantages of objectivity and non-invasiveness make computing tomography (CT) imaging an potential diagnostic method for EDH in living individuals. Recently, radiomics, the extraction hidden information from medical images, has emerged as a promising method for constructing predictive models. The aim of this study is to explore the feasibility and applicability of CT-based radiomics in predicting the timing of EDH injuries in surviving victims. A cohort of 95 EDH cases with definite injured time (within 12 h since injury) was selected. Clinical characteristics (age, gender, injury time, bleeding location, bleeding volume, and fracture) were recorded. The datasets were divided randomly into training and test cohorts. LIFEx software was used to segment the hematoma area in the CT and extract radiomic features. Machine learning algorithms were applied for features selection and model building. Twenty-three features were selected to calculate the Radscore, a key metric in our analysis. Utilizing this Radscore in conjunction with the time since injury, we constructed an Ordinary Least Squared (OLS) model. Our validation study has shown that mean absolute error (MAE) of the test cohort was 2.42 h, indicating a high degree of accuracy. In order to enhance the accuracy of prediction, the dataset was divided into unstable phase, occurring within the first 5 h post injury, and the stable phases. The Random Forest algorithm presented a significant divergence in predictive performance between the two phases, achieving an area under the curve (AUC) of 0.79, with an accuracy of 75.86%. The MAE of the regression model was 1.05 h for the unstable phase, and 1.23 h for the stable phase. Our findings underscore the potential of CT-based radiomics to offer a novel, convenient, and efficient approach to dating EDH, promising to illuminate new avenues in the field of medical diagnostics.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-16DOI: 10.1007/s00414-024-03368-z
Marcel Obal, Tomaž Zupanc, Irena Zupanič Pajnič
Identification of human remains is a challenge in forensic genetics without relatives or personal items available. In Slovenia, a Konfin II mass grave from the Second World War (WWII) was found, containing skeletal remains of 65 victims. The archival documents detailing victims' information describe 45 persons of which 33 could be considered Germanic and 12 Slavic. This study aims to check for concordance between the victim list and actual victims found by using uniparental markers to differentiate between Slavic and non-Slavic origin by attempting to infer ancestry by analyzing the control region (CR) of mitochondrial DNA (mtDNA) and Y-chromosomal STRs. Diaphyses of femurs were used as a DNA source. Next Generation Sequencing (NGS) technology was used for mtDNA- namely HID Ion Chef™ Instrument, Precision ID mtDNA Control Region Panel, and Ion GeneStudio™ S5 System. For the Y-chromosome, PowerPlex® Y23 System (Promega) kit and SeqStudio™ for human identification (HID) were used. European DNA Profiling mtDNA Population Database (EMPOP) and Y-Chromosome STR Haplotype Reference Database (YHRD) were searched for haplotype matches. Closest haplogroups were predicted using EMPOP, Y-DNA Haplogroup Predictor- NevGen, and Whit Athey's Haplogroup Predictor. Despite mitotypes being more diverse than Y-haplotypes, the Y-haplotypes had more database matches and more unequivocal differentiation between populations. 16 victims could be considered Slavic, 15 non-Slavic, and the remaining 34 had a rather scarce informativeness- either unclear or not providing any match. To address ancestry inference more comprehensively, analysis of autosomal ancestry informative markers as well as expansion on haploid markers will be conducted in future research.
在没有亲属或个人物品的情况下,遗骸鉴定是法医遗传学的一项挑战。在斯洛文尼亚,发现了一个第二次世界大战(WWII)时期的 Konfin II 乱葬坑,坑内有 65 具遇难者遗骸。档案文件详细描述了 45 名受害者的信息,其中 33 人被认为是日耳曼人,12 人是斯拉夫人。本研究旨在通过分析线粒体 DNA(mtDNA)控制区(CR)和 Y 染色体 STR 来推断祖先,从而使用单亲标记检查受害者名单与实际发现的受害者是否一致,以区分斯拉夫和非斯拉夫血统。股骨骺被用作 DNA 来源。mtDNA 采用新一代测序(NGS)技术,即 HID Ion Chef™ 仪器、Precision ID mtDNA 控制区面板和 Ion GeneStudio™ S5 系统。对于 Y 染色体,使用了 PowerPlex® Y23 系统(Promega)试剂盒和用于人类鉴定的 SeqStudio™ (HID)。在欧洲 DNA 分析 mtDNA 群体数据库(EMPOP)和 Y 染色体 STR 单倍型参考数据库(YHRD)中搜索单倍型匹配。使用 EMPOP、Y-DNA 单倍群预测器 NevGen 和 Whit Athey 的单倍群预测器预测了最接近的单倍群。尽管mitotypes比Y-单倍型更多样化,但Y-单倍型的数据库匹配度更高,人群之间的区分也更明确。16 名受害者可被视为斯拉夫人,15 名受害者为非斯拉夫人,其余 34 名受害者的信息相当匮乏--要么不清楚,要么没有提供任何匹配信息。为了更全面地解决祖先推断问题,今后的研究将对常染色体祖先信息标记进行分析,并扩大单倍体标记的范围。
{"title":"Testing the informativeness of Y-STR and mitochondrial DNA control region markers in an attempt to predict ancestry of World War II victims from Slovenian mass grave.","authors":"Marcel Obal, Tomaž Zupanc, Irena Zupanič Pajnič","doi":"10.1007/s00414-024-03368-z","DOIUrl":"https://doi.org/10.1007/s00414-024-03368-z","url":null,"abstract":"<p><p>Identification of human remains is a challenge in forensic genetics without relatives or personal items available. In Slovenia, a Konfin II mass grave from the Second World War (WWII) was found, containing skeletal remains of 65 victims. The archival documents detailing victims' information describe 45 persons of which 33 could be considered Germanic and 12 Slavic. This study aims to check for concordance between the victim list and actual victims found by using uniparental markers to differentiate between Slavic and non-Slavic origin by attempting to infer ancestry by analyzing the control region (CR) of mitochondrial DNA (mtDNA) and Y-chromosomal STRs. Diaphyses of femurs were used as a DNA source. Next Generation Sequencing (NGS) technology was used for mtDNA- namely HID Ion Chef™ Instrument, Precision ID mtDNA Control Region Panel, and Ion GeneStudio™ S5 System. For the Y-chromosome, PowerPlex<sup>®</sup> Y23 System (Promega) kit and SeqStudio™ for human identification (HID) were used. European DNA Profiling mtDNA Population Database (EMPOP) and Y-Chromosome STR Haplotype Reference Database (YHRD) were searched for haplotype matches. Closest haplogroups were predicted using EMPOP, Y-DNA Haplogroup Predictor- NevGen, and Whit Athey's Haplogroup Predictor. Despite mitotypes being more diverse than Y-haplotypes, the Y-haplotypes had more database matches and more unequivocal differentiation between populations. 16 victims could be considered Slavic, 15 non-Slavic, and the remaining 34 had a rather scarce informativeness- either unclear or not providing any match. To address ancestry inference more comprehensively, analysis of autosomal ancestry informative markers as well as expansion on haploid markers will be conducted in future research.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1007/s00414-024-03369-y
Kemalettin Acar
{"title":"The place and outlook of legal medicine as a medical specialty in European countries.","authors":"Kemalettin Acar","doi":"10.1007/s00414-024-03369-y","DOIUrl":"https://doi.org/10.1007/s00414-024-03369-y","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-15DOI: 10.1007/s00414-024-03358-1
Marta San-Millán, Varsha Warrier, Anna Carrera, Francisco Reina
Applying existing sexing methodologies to different populations, and reporting these findings is important to enhance their applicability and accuracy in real cases across the world. DSP was published in 2005 (Murail et al., 2005) and updated as a DSP2 in 2017 (Brůžek et al., 2017) based on a database of 10 pelvic measurements from 2040 individuals worldwide. These tools have been applied subsequently to various populations, however, its applicability to a dry Spanish population is lacking. 303 hipbones belonging to 157 individuals from the School of Legal Medicine from the University Complutense of Madrid (Spain), of which 140 individuals were documented, were analyzed to investigate the reliability, applicability and accuracy of the DSP2 sex estimation methodology, examining side and sex-based potential differences for the first time. In most of the DSP variables, intra-rater reliability showed excellent results and % applicability was higher than 85.0%. Overall % accuracy was higher than 94.0% regardless of the number or discriminant power of the utilized DSP variables. However, % sexing decreased when less variables or less discriminant ones were used for estimations, reaching 45.51% (left) and 43.31% (right). Regarding sexual dimorphism, females' results of % applicability, % sexing and % accuracy were higher compared to males. In addition, left os coxae achieved better outcomes (aforementioned percentages) in most of the cases in the sex-pooled sample. Decreasing the mandatory posterior probability by 10% yielded an increase in the % sexing but reduced % accuracy, and thus, does not seem to enhance the approach's performance. The present study validates the applicability and reliability of DSP for sexing a Spanish population. Future investigations will attempt to assess its applicability within virtual anthropology.
{"title":"Application of DSP2 for biological sex estimation in a Spanish sample: analysis based on sex and side.","authors":"Marta San-Millán, Varsha Warrier, Anna Carrera, Francisco Reina","doi":"10.1007/s00414-024-03358-1","DOIUrl":"https://doi.org/10.1007/s00414-024-03358-1","url":null,"abstract":"<p><p>Applying existing sexing methodologies to different populations, and reporting these findings is important to enhance their applicability and accuracy in real cases across the world. DSP was published in 2005 (Murail et al., 2005) and updated as a DSP2 in 2017 (Brůžek et al., 2017) based on a database of 10 pelvic measurements from 2040 individuals worldwide. These tools have been applied subsequently to various populations, however, its applicability to a dry Spanish population is lacking. 303 hipbones belonging to 157 individuals from the School of Legal Medicine from the University Complutense of Madrid (Spain), of which 140 individuals were documented, were analyzed to investigate the reliability, applicability and accuracy of the DSP2 sex estimation methodology, examining side and sex-based potential differences for the first time. In most of the DSP variables, intra-rater reliability showed excellent results and % applicability was higher than 85.0%. Overall % accuracy was higher than 94.0% regardless of the number or discriminant power of the utilized DSP variables. However, % sexing decreased when less variables or less discriminant ones were used for estimations, reaching 45.51% (left) and 43.31% (right). Regarding sexual dimorphism, females' results of % applicability, % sexing and % accuracy were higher compared to males. In addition, left os coxae achieved better outcomes (aforementioned percentages) in most of the cases in the sex-pooled sample. Decreasing the mandatory posterior probability by 10% yielded an increase in the % sexing but reduced % accuracy, and thus, does not seem to enhance the approach's performance. The present study validates the applicability and reliability of DSP for sexing a Spanish population. Future investigations will attempt to assess its applicability within virtual anthropology.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142638914","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-09DOI: 10.1007/s00414-024-03367-0
Guido Pelletti, Nicola Galante, Lorenzo Franceschetti, Luca Berti, Maria Carla Mazzotti, Riccardo Zoia, Susi Pelotti
Autoerotic deaths, defined as accidental fatalities occurring during solitary sexual activities, show complex forensic challenges due to their different mechanisms and variable death scene presentations. This study combines a systematic review of global literature spanning 44 years (from 1980 to 2024) with a detailed case series analysis from the Legal Medicine Institutes of Bologna and Milan, Italy, to provide comprehensive insights into this phenomenon.The systematic review identified 67 relevant reports from databases namely Scopus, Web of Science, and PubMed. In parallel, a case series of 7 autoerotic fatalities was analyzed, highlighting victims' demographics, causes of death, and associated factors.Findings from 101 cases of autoerotic deaths included in the systematic review indicate a predominant prevalence of asphyxial deaths, with hanging being the most common method, followed by intoxication. The study underscores significant gender disparities, with men comprising most cases (n = 91), spanning a broader age range (12-87 y.o.) compared to women (17-48 y.o.). The findings are fully consistent with the Italian case series presented here, in which all the subjects were men aged 18 to 72 years, and the cause of death was asphyxia in 6 cases.Toxicological analyses played a crucial role in elucidating the cause and manner of death in most cases, yet their utilization varies widely, impacting data reliability and evaluation of the cause of death. Notably, the evidence of volatile substances, especially inhalants, creates an emerging area of interest with potential epidemiological and preventive implications. The systematic analysis revealed substantial variability in death scene characteristics and forensic procedures, emphasizing the need for standardized investigative protocols.This study highlights the multifaceted nature of autoerotic deaths and the importance of a holistic forensic approach encompassing death scene investigation, autopsy, and toxicological analysis. By enhancing the understanding and awareness about this phenomenon, this research aims to inform evidence-based practices in forensics, mitigate diagnostic uncertainties, and facilitate preventive interventions.
{"title":"Forensic issues in autoerotic deaths: A 44-year systematic review and a case series from the legal medicine institutes of Bologna and Milan, Italy.","authors":"Guido Pelletti, Nicola Galante, Lorenzo Franceschetti, Luca Berti, Maria Carla Mazzotti, Riccardo Zoia, Susi Pelotti","doi":"10.1007/s00414-024-03367-0","DOIUrl":"https://doi.org/10.1007/s00414-024-03367-0","url":null,"abstract":"<p><p>Autoerotic deaths, defined as accidental fatalities occurring during solitary sexual activities, show complex forensic challenges due to their different mechanisms and variable death scene presentations. This study combines a systematic review of global literature spanning 44 years (from 1980 to 2024) with a detailed case series analysis from the Legal Medicine Institutes of Bologna and Milan, Italy, to provide comprehensive insights into this phenomenon.The systematic review identified 67 relevant reports from databases namely Scopus, Web of Science, and PubMed. In parallel, a case series of 7 autoerotic fatalities was analyzed, highlighting victims' demographics, causes of death, and associated factors.Findings from 101 cases of autoerotic deaths included in the systematic review indicate a predominant prevalence of asphyxial deaths, with hanging being the most common method, followed by intoxication. The study underscores significant gender disparities, with men comprising most cases (n = 91), spanning a broader age range (12-87 y.o.) compared to women (17-48 y.o.). The findings are fully consistent with the Italian case series presented here, in which all the subjects were men aged 18 to 72 years, and the cause of death was asphyxia in 6 cases.Toxicological analyses played a crucial role in elucidating the cause and manner of death in most cases, yet their utilization varies widely, impacting data reliability and evaluation of the cause of death. Notably, the evidence of volatile substances, especially inhalants, creates an emerging area of interest with potential epidemiological and preventive implications. The systematic analysis revealed substantial variability in death scene characteristics and forensic procedures, emphasizing the need for standardized investigative protocols.This study highlights the multifaceted nature of autoerotic deaths and the importance of a holistic forensic approach encompassing death scene investigation, autopsy, and toxicological analysis. By enhancing the understanding and awareness about this phenomenon, this research aims to inform evidence-based practices in forensics, mitigate diagnostic uncertainties, and facilitate preventive interventions.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-09DOI: 10.1007/s00414-024-03366-1
José Alonso Aguilar-Velázquez, Mayra Elizabeth García-Aceves, Miranda Fabiola Córdova-Mercado, Mariano Guardado-Estrada, Emiliano Peña-Durán, Alexa Villavicencio-Queijeiro, Orlando Salas-Salas, Carolina Elena Coronado-Ávila, Christian Adrián Cárdenas-Monroy, Benito Ramos-González, Héctor Rangel-Villalobos
Massively parallel sequencing (MPS) overcomes many PCR-CE limitations to analyze STRs and allow simultaneous inclusion of SNPs in forensic cases. By MPS, the ForenSeq™ DNA Signature Prep kit analyzes 27 aSTRs, 7 X-STRs, 24Y-STRs, and 94 identity-informative SNPs (iiSNPs) with the DNA Primer Set-A (DPS-A). Optionally, the DNA Primer Set-B (DPS-B) adds to the analysis 56 ancestry-informative SNPs (aiSNPs) and 24 phenotype-informative SNPs (piSNPs), but diminishes from 96 to 32 the number of samples per sequencing run. We assessed the forensic informativity provided by the loci analyzed by these two DPS in admixed individuals from Mexico City (Center, Mexico). For STRs, we report length-based (LB) and sequence-based (SB) allele frequencies and forensic parameters of the 152 identity informative markers (DPS-A). For aSTRs, the combined PD of SB genotypes (PD ~ 100%) was ~ 2949 times larger than that from LB. Conversely, the observed phenotype distribution offered low PD levels (PD = 6.6% and 10.4%), whereas piSNPs predicted accurately only the modal brown eye and dark hair colors, respectively. Similarly, aiSNPs detected a large prevalence of admixed individuals (97.3%; PD = 5.4%). Although few individuals were inferred as Europeans and Native Americans (1.37% each), they were self-declared as admixed, which result confusing for HID purposes. In brief, SB genotypes increased significantly the informativity of STRs to solve complex cases (DPS-A), whereas aiSNPs and piSNPs added mostly irrelevant information (DPS-B). We provide useful cost-benefit criteria in one Latin American population to choose DPS-A (96 samples) instead of DPS-B (32 samples) of the Forenseq kit.
{"title":"Choice between DNA primer sets (A or B) of the ForenSeq kit: forensic evaluation in a Mexican admixed population sample.","authors":"José Alonso Aguilar-Velázquez, Mayra Elizabeth García-Aceves, Miranda Fabiola Córdova-Mercado, Mariano Guardado-Estrada, Emiliano Peña-Durán, Alexa Villavicencio-Queijeiro, Orlando Salas-Salas, Carolina Elena Coronado-Ávila, Christian Adrián Cárdenas-Monroy, Benito Ramos-González, Héctor Rangel-Villalobos","doi":"10.1007/s00414-024-03366-1","DOIUrl":"https://doi.org/10.1007/s00414-024-03366-1","url":null,"abstract":"<p><p>Massively parallel sequencing (MPS) overcomes many PCR-CE limitations to analyze STRs and allow simultaneous inclusion of SNPs in forensic cases. By MPS, the ForenSeq™ DNA Signature Prep kit analyzes 27 aSTRs, 7 X-STRs, 24Y-STRs, and 94 identity-informative SNPs (iiSNPs) with the DNA Primer Set-A (DPS-A). Optionally, the DNA Primer Set-B (DPS-B) adds to the analysis 56 ancestry-informative SNPs (aiSNPs) and 24 phenotype-informative SNPs (piSNPs), but diminishes from 96 to 32 the number of samples per sequencing run. We assessed the forensic informativity provided by the loci analyzed by these two DPS in admixed individuals from Mexico City (Center, Mexico). For STRs, we report length-based (LB) and sequence-based (SB) allele frequencies and forensic parameters of the 152 identity informative markers (DPS-A). For aSTRs, the combined PD of SB genotypes (PD ~ 100%) was ~ 2949 times larger than that from LB. Conversely, the observed phenotype distribution offered low PD levels (PD = 6.6% and 10.4%), whereas piSNPs predicted accurately only the modal brown eye and dark hair colors, respectively. Similarly, aiSNPs detected a large prevalence of admixed individuals (97.3%; PD = 5.4%). Although few individuals were inferred as Europeans and Native Americans (1.37% each), they were self-declared as admixed, which result confusing for HID purposes. In brief, SB genotypes increased significantly the informativity of STRs to solve complex cases (DPS-A), whereas aiSNPs and piSNPs added mostly irrelevant information (DPS-B). We provide useful cost-benefit criteria in one Latin American population to choose DPS-A (96 samples) instead of DPS-B (32 samples) of the Forenseq kit.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}