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}
Pub Date : 2024-11-08DOI: 10.1007/s00414-024-03363-4
Živa Miriam Geršak, Aja Golob, Pia Kravanja, Monica Concato, Tamara Leskovar, Irena Zupanič Pajnič
Analysing genetic material from skeletonised human remains has become valuable in forensic and archaeological contexts. While the petrous bone is often preferred for DNA extraction, its availability is not guaranteed, and because of destructive sampling, it is not frequently used in forensic cases. This study explores the potential of patellae as an alternative source of bone material for genetic investigations. Forty-five patellae were sampled from a post-World War II mass grave and an archaeological Christian cemetery dated from the 13th to 19th centuries. A full demineralisation extraction method was used to obtain the DNA, and real-time PCR quantification was used to determine the quantity and quality of DNA. To evaluate the suitability of patellae for forensic and archaeological analyses, short tandem repeat (STR) typing was performed using the ESI17 Fast PCR amplification kit (Promega). To explore the difference in DNA yield, DNA degradation and STR typing success between the post-World War II and archaeological patellae, statistical analysis was performed. The results revealed significantly higher DNA yield and STR typing success in WWII patellae and higher degradation of DNA in archaeological patellae, highlighting the impact of environmental exposure time on genetic material preservation. Almost all WWII patellae achieved a high success rate in STR typing with full profiles generated. More than half of the archaeological patellae showed high STR typing performance and highly informative partial profiles were obtained, indicating the suitability of patellae not only for forensic purposes but also for archaeological genetic analyses.
在法医学和考古学中,对骸骨化人类遗骸中的遗传物质进行分析已变得非常重要。虽然提取 DNA 时通常首选岩石骨,但其可用性无法保证,而且由于取样具有破坏性,因此在法医案件中并不常用。本研究探讨了髌骨作为基因调查的替代骨材料来源的潜力。研究人员从一个二战后的乱葬坑和一个 13 至 19 世纪的基督教考古墓地中采集了 45 块髌骨样本。采用完全脱矿提取法获得 DNA,并通过实时 PCR 定量来确定 DNA 的数量和质量。为了评估髌骨是否适合用于法医和考古分析,使用ESI17快速PCR扩增试剂盒(Promega)进行了短串联重复(STR)分型。为了探究二战后髌骨与考古髌骨在DNA产量、DNA降解和STR分型成功率方面的差异,我们进行了统计分析。结果显示,二战后髌骨的DNA产量和STR分型成功率明显较高,而考古髌骨的DNA降解率较高,这凸显了环境暴露时间对遗传物质保存的影响。几乎所有二战髌骨的 STR 分型成功率都很高,并生成了完整的图谱。半数以上的考古髌骨显示出很高的 STR 分型成功率,并获得了信息量很大的部分图谱,这表明髌骨不仅适用于法医目的,也适用于考古遗传分析。
{"title":"Patellae as a source of DNA in forensic and archaeological analysis.","authors":"Živa Miriam Geršak, Aja Golob, Pia Kravanja, Monica Concato, Tamara Leskovar, Irena Zupanič Pajnič","doi":"10.1007/s00414-024-03363-4","DOIUrl":"https://doi.org/10.1007/s00414-024-03363-4","url":null,"abstract":"<p><p>Analysing genetic material from skeletonised human remains has become valuable in forensic and archaeological contexts. While the petrous bone is often preferred for DNA extraction, its availability is not guaranteed, and because of destructive sampling, it is not frequently used in forensic cases. This study explores the potential of patellae as an alternative source of bone material for genetic investigations. Forty-five patellae were sampled from a post-World War II mass grave and an archaeological Christian cemetery dated from the 13th to 19th centuries. A full demineralisation extraction method was used to obtain the DNA, and real-time PCR quantification was used to determine the quantity and quality of DNA. To evaluate the suitability of patellae for forensic and archaeological analyses, short tandem repeat (STR) typing was performed using the ESI17 Fast PCR amplification kit (Promega). To explore the difference in DNA yield, DNA degradation and STR typing success between the post-World War II and archaeological patellae, statistical analysis was performed. The results revealed significantly higher DNA yield and STR typing success in WWII patellae and higher degradation of DNA in archaeological patellae, highlighting the impact of environmental exposure time on genetic material preservation. Almost all WWII patellae achieved a high success rate in STR typing with full profiles generated. More than half of the archaeological patellae showed high STR typing performance and highly informative partial profiles were obtained, indicating the suitability of patellae not only for forensic purposes but also for archaeological genetic analyses.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604451","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 : 2024-11-07DOI: 10.1007/s00414-024-03364-3
Nadeem Mubarik, Masroor Ahmad Ganei, Shivani Dixit, R K Kumawat, Jaison Jeevan Sequeira, Naseer Ahmad Ahangar, Shahul Ahmad Kanth, Imtiyaz Ahmad Dar, Ishrat Mushtaq, Mohammad Mohsin, Mohammed S Mustak, Gyaneshwer Chaubey, Sania Hamid, Pankaj Shrivastava
The Union Territory of Jammu and Kashmir has always been a point of contention among India, Pakistan, and China for various reasons. This region has great significance historically due to its geography and ethnic diversity. However, a comprehensive genetic study providing the genetic landscape of Jammu and Kashmir was lacking until now. In this study, we analysed 21 hyper-variable autosomal STR loci of 694 individuals from Jammu and Kashmir and compared them with neighbouring populations to explore the genetic implications of demographic dynamics that have taken place in this region. Our findings suggest that the population of Jammu and Kashmir is a genetic mixture of two major clines, northern and southern, that correspond with the variation in geography, linguistics, and demography of the region. Broadly, the gene flow into the southern cline appears to be in historical times perhaps as a result of the spread of Gurjars, Dogri language and invasions of Mongols. However, the arrival of ancient nomadic tribes into this region may belong to the time depth of the arrival of pastoralist communities in this region. As a future perspective, a comprehensive study including samples from individual tribes will provide fine-scale structure of the gene pool of Jammu and Kashmir.
{"title":"Exploring the genetic implications of demographic dynamics in Jammu and Kashmir using autosomal STRs.","authors":"Nadeem Mubarik, Masroor Ahmad Ganei, Shivani Dixit, R K Kumawat, Jaison Jeevan Sequeira, Naseer Ahmad Ahangar, Shahul Ahmad Kanth, Imtiyaz Ahmad Dar, Ishrat Mushtaq, Mohammad Mohsin, Mohammed S Mustak, Gyaneshwer Chaubey, Sania Hamid, Pankaj Shrivastava","doi":"10.1007/s00414-024-03364-3","DOIUrl":"https://doi.org/10.1007/s00414-024-03364-3","url":null,"abstract":"<p><p>The Union Territory of Jammu and Kashmir has always been a point of contention among India, Pakistan, and China for various reasons. This region has great significance historically due to its geography and ethnic diversity. However, a comprehensive genetic study providing the genetic landscape of Jammu and Kashmir was lacking until now. In this study, we analysed 21 hyper-variable autosomal STR loci of 694 individuals from Jammu and Kashmir and compared them with neighbouring populations to explore the genetic implications of demographic dynamics that have taken place in this region. Our findings suggest that the population of Jammu and Kashmir is a genetic mixture of two major clines, northern and southern, that correspond with the variation in geography, linguistics, and demography of the region. Broadly, the gene flow into the southern cline appears to be in historical times perhaps as a result of the spread of Gurjars, Dogri language and invasions of Mongols. However, the arrival of ancient nomadic tribes into this region may belong to the time depth of the arrival of pastoralist communities in this region. As a future perspective, a comprehensive study including samples from individual tribes will provide fine-scale structure of the gene pool of Jammu and Kashmir.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604446","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 : 2024-11-07DOI: 10.1007/s00414-024-03351-8
Darya Ali, Roland A H van Oorschot, Adrian Linacre, Mariya Goray
"Shedder status" describes the inherent variation between individuals to leave touch DNA on a surface through direct contact. Depending on the amount and quality of DNA or cellular deposition, individuals are typically deemed high, intermediate, or low shedders. Although many shedder tests have been described, variability in study design and categorisation criteria has limited the ability of researchers to accurately compare results, as well as accrue the necessary population data. As activity level reporting becomes more common, the need for reliable and standardised testing increases. To assess reproducibility, this study compared shedder status data generated by six participants using three different shedder tests, as modified from the literature. This involved DNA quantification and profiling of a handprint made on a glass plate, DNA quantification and profiling of a grip mark made on a plastic conical tube, and cell scoring of a Diamond™ Dye-stained fingermark. All participants washed and dried their hands fifteen minutes before each deposit. To assess the impact of behaviour on shedder designation, participants either refrained from activity or went about their daily tasks during this wait. The shedder status of participants changed between tests, as DNA-based testing often generated lower shedder statuses than cell scores. Further, when different categorisation methods were applied to a single test, intra-person variability increased as the number of shedder designations increased from two (low/high) to five (low/low-intermediate/intermediate/intermediate-high/high). Moving forward, the utilisation of a single shedder test and standardised categorisation criteria is needed to employ shedder testing in forensic casework.
"脱落者状态 "是指个体之间通过直接接触在物体表面留下接触 DNA 的固有差异。根据 DNA 或细胞沉积的数量和质量,个体通常被视为高、中或低脱落者。虽然已有许多脱落者测试方法,但研究设计和分类标准的差异限制了研究人员准确比较结果和积累必要人群数据的能力。随着活动水平报告越来越普遍,对可靠和标准化测试的需求也在增加。为了评估可重复性,本研究比较了六名参与者使用三种不同的脱落者检测方法(根据文献修改)得出的脱落者状态数据。这包括对玻璃板上的手印进行 DNA 定量和特征分析,对塑料锥形管上的抓痕进行 DNA 定量和特征分析,以及对 Diamond™ 染色指痕进行细胞评分。所有参与者都在每次存款前 15 分钟洗手并擦干双手。为了评估行为对脱落者认定的影响,参与者在等待期间要么停止活动,要么继续做日常工作。参与者的脱落细胞状态在两次检测之间会发生变化,因为基于 DNA 的检测通常会产生比细胞评分更低的脱落细胞状态。此外,在一次测试中采用不同的分类方法时,随着脱落细胞数量从两种(低/高)增加到五种(低/低-中/中/中-高/高),人与人之间的差异也随之增加。展望未来,在法医办案中采用脱落细胞检测时,需要使用单一脱落细胞检测和标准化分类标准。
{"title":"How to best assess shedder status: a comparison of popular shedder tests.","authors":"Darya Ali, Roland A H van Oorschot, Adrian Linacre, Mariya Goray","doi":"10.1007/s00414-024-03351-8","DOIUrl":"https://doi.org/10.1007/s00414-024-03351-8","url":null,"abstract":"<p><p>\"Shedder status\" describes the inherent variation between individuals to leave touch DNA on a surface through direct contact. Depending on the amount and quality of DNA or cellular deposition, individuals are typically deemed high, intermediate, or low shedders. Although many shedder tests have been described, variability in study design and categorisation criteria has limited the ability of researchers to accurately compare results, as well as accrue the necessary population data. As activity level reporting becomes more common, the need for reliable and standardised testing increases. To assess reproducibility, this study compared shedder status data generated by six participants using three different shedder tests, as modified from the literature. This involved DNA quantification and profiling of a handprint made on a glass plate, DNA quantification and profiling of a grip mark made on a plastic conical tube, and cell scoring of a Diamond™ Dye-stained fingermark. All participants washed and dried their hands fifteen minutes before each deposit. To assess the impact of behaviour on shedder designation, participants either refrained from activity or went about their daily tasks during this wait. The shedder status of participants changed between tests, as DNA-based testing often generated lower shedder statuses than cell scores. Further, when different categorisation methods were applied to a single test, intra-person variability increased as the number of shedder designations increased from two (low/high) to five (low/low-intermediate/intermediate/intermediate-high/high). Moving forward, the utilisation of a single shedder test and standardised categorisation criteria is needed to employ shedder testing in forensic casework.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604450","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}