Pub Date : 2025-01-06DOI: 10.1007/s00414-024-03394-x
Heba Ibrahim Lashin, Asmaa Fady Sharif, Mohamed Salah Ghaly, Shaimaa Shaban El-Desouky, Amira Elsayed Elhawary
Estimating the chronological age of humans is a prevalent need in forensic practice. Comparing the accuracy of different age identification methods helps provide the most reliable method for a specific population. This study aimed to compare the accuracy of age assessments using skeletal maturation and dental mineralization in a sample of Egyptians and to assess if combining both methods yields more precise age prediction. A cross-sectional study included 176 Egyptian children and adolescents aged between 8 and 16 who underwent orthopantomograms and hand-wrist radiographs. All radiographs were scored independently for skeletal maturation using the Fishman method and dental development using the Nolla method. While Fishman and Nolla methods were valid and reliable age predictors with variable sex and age group accuracy in Egyptians, the Nolla method showed superior performance. The Nolla method slightly underestimated the chronological age, while the Fishman method slightly over-estimated it, showing median differences of -0.21 and 0.17, respectively. Correlating the estimated age using the Fishman and Nolla methods and the chronological age showed intraclass correlation coefficients of (0.854 and 0.660) and (0.973 and 0.977) for females and males, respectively (P < 0.001). The model adopting the Nolla score exhibited the highest R² (0.973 and 0.968) and the lowest Akaike information criteria (96 and 106) for females and males, respectively, which is comparable to the model adopting both Nolla scores and skeletal maturation indicators. Therefore, we recommend adopting the model incorporating only the Nolla scores for age estimation without the need for further hand and wrist radiography.
{"title":"Bridging gaps in age estimation: a cross-sectional comparative study of skeletal maturation using Fishman method and dental development using Nolla method among Egyptians.","authors":"Heba Ibrahim Lashin, Asmaa Fady Sharif, Mohamed Salah Ghaly, Shaimaa Shaban El-Desouky, Amira Elsayed Elhawary","doi":"10.1007/s00414-024-03394-x","DOIUrl":"https://doi.org/10.1007/s00414-024-03394-x","url":null,"abstract":"<p><p>Estimating the chronological age of humans is a prevalent need in forensic practice. Comparing the accuracy of different age identification methods helps provide the most reliable method for a specific population. This study aimed to compare the accuracy of age assessments using skeletal maturation and dental mineralization in a sample of Egyptians and to assess if combining both methods yields more precise age prediction. A cross-sectional study included 176 Egyptian children and adolescents aged between 8 and 16 who underwent orthopantomograms and hand-wrist radiographs. All radiographs were scored independently for skeletal maturation using the Fishman method and dental development using the Nolla method. While Fishman and Nolla methods were valid and reliable age predictors with variable sex and age group accuracy in Egyptians, the Nolla method showed superior performance. The Nolla method slightly underestimated the chronological age, while the Fishman method slightly over-estimated it, showing median differences of -0.21 and 0.17, respectively. Correlating the estimated age using the Fishman and Nolla methods and the chronological age showed intraclass correlation coefficients of (0.854 and 0.660) and (0.973 and 0.977) for females and males, respectively (P < 0.001). The model adopting the Nolla score exhibited the highest R² (0.973 and 0.968) and the lowest Akaike information criteria (96 and 106) for females and males, respectively, which is comparable to the model adopting both Nolla scores and skeletal maturation indicators. Therefore, we recommend adopting the model incorporating only the Nolla scores for age estimation without the need for further hand and wrist radiography.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931737","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 : 2025-01-02DOI: 10.1007/s00414-024-03404-y
Josip Vickov, Ivan Jerković, Iva Perić, Nika Jerković, Željana Bašić
This study aimed to test age-related changes in sternal fusion and sternal-rib cartilage ossification on multi-slice computed tomography (MSCT) images of the Croatian population. The additional aim was to develop models to estimate age and provide an interface for the model's application and validation. This retrospective study was conducted on 144 MSCT images of the sternal region, and the developed models were tested on 36 MSCT images. We scored manubrium-mesosternal joint fusion (FM), xiphoid process and mesosternum fusion (FX), ossification of the first costal cartilage (OF), ossification of the second to seventh costal cartilages at the rib ends (OR), and ossification of the second to seventh costal cartilages at the sternal ends (OS). All sternal-rib cartilage ossification phases and sternal body and xiphoid process fusion scores showed statistically significant age differences (P < 0.001), except manubrium-mesosternal joint fusion. The final model that combined regression and classification using FM, FX, OR, OS, and sex obtained a 95% prediction interval (PI) coverage of 94.46% on the cross-validation (cv) and 91.67% on the test set with an average PI width of 42.29 and 42.95 years respectively. We also developed a Python Flask app called CroSterna: Age estimation from sternal fusion and rib ossification in the Croatian population ( https://crosterna.onrender.com/ ) to facilitate the estimation for professionals.
{"title":"Age estimation through sternal fusion and costal cartilage ossification using MSCT in a Croatian population: model development and application.","authors":"Josip Vickov, Ivan Jerković, Iva Perić, Nika Jerković, Željana Bašić","doi":"10.1007/s00414-024-03404-y","DOIUrl":"https://doi.org/10.1007/s00414-024-03404-y","url":null,"abstract":"<p><p>This study aimed to test age-related changes in sternal fusion and sternal-rib cartilage ossification on multi-slice computed tomography (MSCT) images of the Croatian population. The additional aim was to develop models to estimate age and provide an interface for the model's application and validation. This retrospective study was conducted on 144 MSCT images of the sternal region, and the developed models were tested on 36 MSCT images. We scored manubrium-mesosternal joint fusion (FM), xiphoid process and mesosternum fusion (FX), ossification of the first costal cartilage (OF), ossification of the second to seventh costal cartilages at the rib ends (OR), and ossification of the second to seventh costal cartilages at the sternal ends (OS). All sternal-rib cartilage ossification phases and sternal body and xiphoid process fusion scores showed statistically significant age differences (P < 0.001), except manubrium-mesosternal joint fusion. The final model that combined regression and classification using FM, FX, OR, OS, and sex obtained a 95% prediction interval (PI) coverage of 94.46% on the cross-validation (cv) and 91.67% on the test set with an average PI width of 42.29 and 42.95 years respectively. We also developed a Python Flask app called CroSterna: Age estimation from sternal fusion and rib ossification in the Croatian population ( https://crosterna.onrender.com/ ) to facilitate the estimation for professionals.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914502","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 : 2025-01-01Epub Date: 2024-10-09DOI: 10.1007/s00414-024-03349-2
Manuel Partido Navadijo, Jose Francisco Muñoz Molina, Fernando Navarro Merino, Inmaculada Alemán Aguilera
Sexual dimorphism in the human species is key to the development of sex estimation techniques in the human skeleton. This dimorphism is manifested, as in other regions of the skeleton, in the bones that constitute the thoracic cage, according to the existing bibliography. In this aspect, the study of the human skeleton through 3D images has also proved to be useful for the development and validation of sex estimation methodologies for the reconstruction of the osteobiological profile.For this purpose, a sample of 240 thoracic CT scans of adult individuals was selected from a collection of 3D images belonging to the University of Granada, provided by the Castilla-La Mancha Health Service (SESCAM). Different measurements of the thoracic bones (ribs R2 to R5 width, sternum length and width, and clavicles width) have been taken with OsiriX software, with the aim of developing discriminant functions for sex estimation.The obtained results are positive, allowing sex estimation through 3D images of the thorax with up to 89.6% accuracy through discriminant functions, which shows the usefulness of image analysis for the reconstruction of the osteobiological profile.
{"title":"Sex estimation by CT image analysis of the rib cage in a Mediterranean population.","authors":"Manuel Partido Navadijo, Jose Francisco Muñoz Molina, Fernando Navarro Merino, Inmaculada Alemán Aguilera","doi":"10.1007/s00414-024-03349-2","DOIUrl":"10.1007/s00414-024-03349-2","url":null,"abstract":"<p><p>Sexual dimorphism in the human species is key to the development of sex estimation techniques in the human skeleton. This dimorphism is manifested, as in other regions of the skeleton, in the bones that constitute the thoracic cage, according to the existing bibliography. In this aspect, the study of the human skeleton through 3D images has also proved to be useful for the development and validation of sex estimation methodologies for the reconstruction of the osteobiological profile.For this purpose, a sample of 240 thoracic CT scans of adult individuals was selected from a collection of 3D images belonging to the University of Granada, provided by the Castilla-La Mancha Health Service (SESCAM). Different measurements of the thoracic bones (ribs R2 to R5 width, sternum length and width, and clavicles width) have been taken with OsiriX software, with the aim of developing discriminant functions for sex estimation.The obtained results are positive, allowing sex estimation through 3D images of the thorax with up to 89.6% accuracy through discriminant functions, which shows the usefulness of image analysis for the reconstruction of the osteobiological profile.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"419-427"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390325","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 : 2025-01-01Epub Date: 2024-10-25DOI: 10.1007/s00414-024-03357-2
Rogier van der Hulst, Reza R R Gerretsen, Lisette M Kootker, Sanne W L Palstra, Arnoud J Kal, Saskia T M Ammer, Shirley P Verschoor, Lennaert C P Borra, Carina S M van Leeuwen, Miranda Verschraagen, Gareth R Davies, Roelof-Jan Oostra, Daniël J Touw
Introduction: Analysis of a single tooth and nail can provide valuable forensic information, including year of birth, year of death, age, sex, DNA-profile, geographic residence during childhood and at time of death and drug exposure. The aim is to minimize the amount of used bodily material and to validate the applicability of a multidisciplinary sampling protocol.
Methods: A nail of the big toe, a tooth and blood of seven deceased individuals were collected postmortem. Collected materials were sampled and segmented in accordance with the multidisciplinary sampling protocol. DNA analysis was conducted on the pulp of the tooth, isotope analysis (Sr, Pb, O and C) on the enamel and 14C-, toxicological and tooth cementum annulation analysis on root segments. DNA-, isotope (Sr, Pb, O and C) -, toxicological-, and 14C -analysis were conducted on toenail segments. The acquired DNA profiles were compared with profiles acquired from blood.
Results: Material from seven deceased persons was analysed. 45 out of 56 analyses on dental samples were successful, constituting a success rate of 80%. Additionally, 27 out of 35 analyses were successful on nail samples, yielding a success rate of 77%. DNA-, toxicological and 14C- analyses performed better in nail than in tooth. Isotope analyses performed better in tooth than in nail. A profile with personal characteristics was constructed and matched for 62% of parameters with collected medical information.
Conclusion: The performed sampling protocol for simultaneous multidisciplinary forensic analysis on a single tooth and nail sample provided applicable results and valuable information.
{"title":"A multidisciplinary approach to forensic biological profiling on a single tooth and nail sample.","authors":"Rogier van der Hulst, Reza R R Gerretsen, Lisette M Kootker, Sanne W L Palstra, Arnoud J Kal, Saskia T M Ammer, Shirley P Verschoor, Lennaert C P Borra, Carina S M van Leeuwen, Miranda Verschraagen, Gareth R Davies, Roelof-Jan Oostra, Daniël J Touw","doi":"10.1007/s00414-024-03357-2","DOIUrl":"10.1007/s00414-024-03357-2","url":null,"abstract":"<p><strong>Introduction: </strong>Analysis of a single tooth and nail can provide valuable forensic information, including year of birth, year of death, age, sex, DNA-profile, geographic residence during childhood and at time of death and drug exposure. The aim is to minimize the amount of used bodily material and to validate the applicability of a multidisciplinary sampling protocol.</p><p><strong>Methods: </strong>A nail of the big toe, a tooth and blood of seven deceased individuals were collected postmortem. Collected materials were sampled and segmented in accordance with the multidisciplinary sampling protocol. DNA analysis was conducted on the pulp of the tooth, isotope analysis (Sr, Pb, O and C) on the enamel and <sup>14</sup>C-, toxicological and tooth cementum annulation analysis on root segments. DNA-, isotope (Sr, Pb, O and C) -, toxicological-, and <sup>14</sup>C -analysis were conducted on toenail segments. The acquired DNA profiles were compared with profiles acquired from blood.</p><p><strong>Results: </strong>Material from seven deceased persons was analysed. 45 out of 56 analyses on dental samples were successful, constituting a success rate of 80%. Additionally, 27 out of 35 analyses were successful on nail samples, yielding a success rate of 77%. DNA-, toxicological and <sup>14</sup>C- analyses performed better in nail than in tooth. Isotope analyses performed better in tooth than in nail. A profile with personal characteristics was constructed and matched for 62% of parameters with collected medical information.</p><p><strong>Conclusion: </strong>The performed sampling protocol for simultaneous multidisciplinary forensic analysis on a single tooth and nail sample provided applicable results and valuable information.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"361-374"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499962","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}
Because emergency departments are often the first point of contact for victims of violence, it is critical to provide the appropriate treatment in compliance with all necessary medicolegal precautions. For this reason, a randomized controlled trial was conducted at the Policlinico Hospital of Milan (Italy) in which an intervention group (12 physicians) received a 6-h course on clinical forensic medicine and their performance in medicolegal procedures in claimed cases of violence was compared with that of a control group (13 physicians) by means of a 16-item assessment scale over the 3 months before and the 3 months after the course. Overall, 195 medical records were included in the statistical analysis. Out of these cases, 105 occurred before the course (60 analyzed by the control group and 45 by the intervention group) and 90 occurred after the course (45 analyzed by the control group and 45 by the intervention group). The results showed that the overall mean score of physicians who participated to the course increased from 14.0 (IQR 7.0) to 19.0 (IQR 8.0) with a p-value < 0.0001 and that the comparison between the intervention group and the control group after the course was 19.0 (IQR = 8.0) and 14.0 (IQR = 7.0), respectively, with a p-value < 0.0001. The improvement was very little and below the expectations pointing out that educational courses, although they can be a first step towards raising the ED physicians' awareness of clinical forensics, may not be enough and that more structured training and new strategies should be implemented.
{"title":"Clinical forensic medicine in emergency departments: a pilot study of a forensic training and evaluation of its effectiveness in an Italian hospital.","authors":"Stefano Tambuzzi, Cecilia Rossi, Donatella Pavanello, Riccardo Primavera, Giorgio Costantino, Cristina Cattaneo","doi":"10.1007/s00414-024-03313-0","DOIUrl":"10.1007/s00414-024-03313-0","url":null,"abstract":"<p><p>Because emergency departments are often the first point of contact for victims of violence, it is critical to provide the appropriate treatment in compliance with all necessary medicolegal precautions. For this reason, a randomized controlled trial was conducted at the Policlinico Hospital of Milan (Italy) in which an intervention group (12 physicians) received a 6-h course on clinical forensic medicine and their performance in medicolegal procedures in claimed cases of violence was compared with that of a control group (13 physicians) by means of a 16-item assessment scale over the 3 months before and the 3 months after the course. Overall, 195 medical records were included in the statistical analysis. Out of these cases, 105 occurred before the course (60 analyzed by the control group and 45 by the intervention group) and 90 occurred after the course (45 analyzed by the control group and 45 by the intervention group). The results showed that the overall mean score of physicians who participated to the course increased from 14.0 (IQR 7.0) to 19.0 (IQR 8.0) with a p-value < 0.0001 and that the comparison between the intervention group and the control group after the course was 19.0 (IQR = 8.0) and 14.0 (IQR = 7.0), respectively, with a p-value < 0.0001. The improvement was very little and below the expectations pointing out that educational courses, although they can be a first step towards raising the ED physicians' awareness of clinical forensics, may not be enough and that more structured training and new strategies should be implemented.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"275-284"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142080264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
In forensic genetics, sometimes formalin-fixed paraffin-embedded (FFPE) biopsy material taken during life is the only biological sample available for individual identification or paternity testing. In most cases, this biological tissue is characterized by the presence of tumor cells characterized by instability and loss of heterozygosity of microsatellites (MSI/LOH) compared to the DNA present in cells of normal tissue.In this case report, two FFPE samples from the same male subject were available for genetic investigation: one sample with colorectal cancer tissue and the other with normal tissue (no cancerous histopathological features). The comparison of the genetic profiles obtained from DNA extracted from the two tissues showed in the tumor tissue the presence of three genomic instability phenomena affecting FGA, CSF1P0, D21S2055 loci, located on three distinct autosomal chromosomes, and one duplication phenomenon affecting the DYS438. Therefore, due to the MSI/LOH phenomena, the genetic profile acquired from the tumor tissue was distorted and thus generated a fictitious genetic profile, not corresponding to the subject's real one (normal tissue free of tumor cells).
在法医遗传学中,有时生前提取的福尔马林固定石蜡包埋(FFPE)活检材料是唯一可用于个体鉴定或亲子鉴定的生物样本。在大多数情况下,这种生物组织的特点是存在肿瘤细胞,与正常组织细胞中的 DNA 相比,肿瘤细胞具有不稳定性和微卫星杂合性缺失(MSI/LOH)。在本病例报告中,有两份来自同一男性受试者的 FFPE 样本可用于基因调查:一份样本为结直肠癌组织,另一份样本为正常组织(无癌症组织病理学特征)。通过比较从两个组织中提取的 DNA 所获得的基因图谱,发现肿瘤组织中存在三个基因组不稳定现象,分别影响位于三个不同常染色体上的 FGA、CSF1P0 和 D21S2055 位点,以及一个影响 DYS438 的重复现象。因此,由于 MSI/LOH 现象,从肿瘤组织获得的基因图谱被扭曲,从而产生了一个虚构的基因图谱,与受试者的真实基因图谱(无肿瘤细胞的正常组织)不符。
{"title":"Unveiling STRs instability in a colorectal cancer FFPE sample: a case report.","authors":"Giulia Soldati, Chiara Saccardo, Dario Raniero, Domenico De Leo, Stefania Turrina","doi":"10.1007/s00414-024-03341-w","DOIUrl":"10.1007/s00414-024-03341-w","url":null,"abstract":"<p><p>In forensic genetics, sometimes formalin-fixed paraffin-embedded (FFPE) biopsy material taken during life is the only biological sample available for individual identification or paternity testing. In most cases, this biological tissue is characterized by the presence of tumor cells characterized by instability and loss of heterozygosity of microsatellites (MSI/LOH) compared to the DNA present in cells of normal tissue.In this case report, two FFPE samples from the same male subject were available for genetic investigation: one sample with colorectal cancer tissue and the other with normal tissue (no cancerous histopathological features). The comparison of the genetic profiles obtained from DNA extracted from the two tissues showed in the tumor tissue the presence of three genomic instability phenomena affecting FGA, CSF1P0, D21S2055 loci, located on three distinct autosomal chromosomes, and one duplication phenomenon affecting the DYS438. Therefore, due to the MSI/LOH phenomena, the genetic profile acquired from the tumor tissue was distorted and thus generated a fictitious genetic profile, not corresponding to the subject's real one (normal tissue free of tumor cells).</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"61-65"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142390326","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-10-15DOI: 10.1007/s00414-024-03335-8
Dennis McNevin, Jessica Watson, Kelly Grisedale, Ayusha Dahal, Corey Goodwin, Jodie Ward
Targeted amplicon sequencing (TAS) facilitates the genotyping of forensically informative single nucleotide polymorphisms (SNPs) using massively parallel sequencing (MPS). For human remains identification, where any extracted DNA is likely to be degraded, TAS may succeed when short tandem repeat (STR) profiling using capillary electrophoresis fails. Further, as well as yielding identity information, SNPs can provide information about ancestry, phenotype, kinship and paternal lineage (Y chromosome haplotypes). Two TAS platforms were compared in this study: Ion AmpliSeq™ panels coupled with Ion Torrent sequencing on an Ion GeneStudio™ S5 Plus System, manufactured by Thermo Fisher Scientific, and the ForenSeq® Kintelligence Kit coupled with Illumina sequencing on the MiSeq FGx® Sequencing System, manufactured by QIAGEN. Four Ion AmpliSeq™ panels (Precision ID Identity, Precision ID Ancestry, DNA Phenotyping and HID Y-SNP) share 177 SNPs with the ForenSeq® Kintelligence Kit and all five were used to profile the DNA extracted from the petrous part of the temporal bone from six skeletonised cadavers. Of the 6 × 177 = 1,062 SNP genotype comparisons, 1,055 (99%) were concordant between the Ion AmpliSeq™ panels and Kintelligence Kit. Of the seven (< 1%) non-concordant SNPs, only three of them (0.3%) would have resulted in erroneous genotypes being reported as a result of allele dropout by either assay, using our optimised relative variant frequency windows for allele calling. We conclude that both the Ion AmpliSeq™ panels and the ForenSeq® Kintelligence Kit were suitable for TAS applied to the human remains in this study.
靶向扩增片段测序(TAS)有助于利用大规模并行测序(MPS)对具有法医参考价值的单核苷酸多态性(SNPs)进行基因分型。在人类遗骸鉴定中,提取的任何 DNA 都有可能降解,因此当使用毛细管电泳进行短串联重复序列 (STR) 分析失败时,TAS 可能会取得成功。此外,SNP 除了能提供身份信息外,还能提供有关祖先、表型、亲缘关系和父系血统(Y 染色体单倍型)的信息。本研究比较了两种 TAS 平台:Ion AmpliSeq™ 面板与赛默飞世尔科技公司生产的 Ion GeneStudio™ S5 Plus 系统上的 Ion Torrent 测序相结合,以及 ForenSeq® Kintelligence 套件与 QIAGEN 公司生产的 MiSeq FGx® 测序系统上的 Illumina 测序相结合。四个 Ion AmpliSeq™ 面板(Precision ID Identity、Precision ID Ancestry、DNA Phenotyping 和 HID Y-SNP)与 ForenSeq® Kintelligence 套件共享 177 个 SNPs,所有五个面板都用于对从六具骸骨尸体的颞骨岩石部分提取的 DNA 进行特征分析。在 6 × 177 = 1,062 个 SNP 基因型比较中,有 1,055 个(99%)在 Ion AmpliSeq™ 面板和 Kintelligence Kit 之间是一致的。在 7 个(
{"title":"Comparison of commercial targeted amplicon sequencing assays for human remains identification casework.","authors":"Dennis McNevin, Jessica Watson, Kelly Grisedale, Ayusha Dahal, Corey Goodwin, Jodie Ward","doi":"10.1007/s00414-024-03335-8","DOIUrl":"10.1007/s00414-024-03335-8","url":null,"abstract":"<p><p>Targeted amplicon sequencing (TAS) facilitates the genotyping of forensically informative single nucleotide polymorphisms (SNPs) using massively parallel sequencing (MPS). For human remains identification, where any extracted DNA is likely to be degraded, TAS may succeed when short tandem repeat (STR) profiling using capillary electrophoresis fails. Further, as well as yielding identity information, SNPs can provide information about ancestry, phenotype, kinship and paternal lineage (Y chromosome haplotypes). Two TAS platforms were compared in this study: Ion AmpliSeq™ panels coupled with Ion Torrent sequencing on an Ion GeneStudio™ S5 Plus System, manufactured by Thermo Fisher Scientific, and the ForenSeq® Kintelligence Kit coupled with Illumina sequencing on the MiSeq FGx® Sequencing System, manufactured by QIAGEN. Four Ion AmpliSeq™ panels (Precision ID Identity, Precision ID Ancestry, DNA Phenotyping and HID Y-SNP) share 177 SNPs with the ForenSeq® Kintelligence Kit and all five were used to profile the DNA extracted from the petrous part of the temporal bone from six skeletonised cadavers. Of the 6 × 177 = 1,062 SNP genotype comparisons, 1,055 (99%) were concordant between the Ion AmpliSeq™ panels and Kintelligence Kit. Of the seven (< 1%) non-concordant SNPs, only three of them (0.3%) would have resulted in erroneous genotypes being reported as a result of allele dropout by either assay, using our optimised relative variant frequency windows for allele calling. We conclude that both the Ion AmpliSeq™ panels and the ForenSeq® Kintelligence Kit were suitable for TAS applied to the human remains in this study.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"49-60"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-01-01Epub Date: 2024-08-22DOI: 10.1007/s00414-024-03309-w
Christophe Maruejouls, Alice Ameline, Laurie Gheddar, Cédric Mazoyer, Kati Teston, Frédéric Aknouche, Pascal Kintz
Protonitazene is a synthetic benzoimidazole opioid of the nitazenes class, developed in the 1950s as an effective analgesic, but never released in the market due to severe side effects and major risk of dependence. The laboratory was involved in the determination of the cause of death for 5 subjects deceased in a French department of the Indian Ocean. The 5 victims were male, aged between 20 and 35 years. The first 2 victims were found dead in their prison cell and the 3 other victims were found dead in a squat. Therefore, we have developed and validated a specific procedure to identify and quantify the drug in post mortem specimens using LC-MS/MS. The procedure involves extraction of 0.5 mL fluid at pH 9.5 with a mixture of organic solvents in presence of 20 ng fentanyl-d5 used as internal standard. Linearity of the method was verified from 0.1 to 20 ng/mL in both whole blood and urine (r2 = 0.9983 and 0.9993, respectively). The limit of detection was estimated at 0.05 ng/mL in each matrix. Protonitazene was identified at < LOQ to 0.8 ng/mL, 0.4 to 2.9 ng/mL and 3.0 to 8.0 ng/mL in femoral blood, urine and bile, respectively. Post mortem concentrations were very low, which is consistent with reported high toxicity of protonitazene. As nitazenes represent a growing threat to public health in various parts of the world, this method seems to be a good response to the challenges posed by the identification of this class of substances.
{"title":"First evidence in an oversea French department of the deadly risk of protonitazene use: about 5 post mortem cases.","authors":"Christophe Maruejouls, Alice Ameline, Laurie Gheddar, Cédric Mazoyer, Kati Teston, Frédéric Aknouche, Pascal Kintz","doi":"10.1007/s00414-024-03309-w","DOIUrl":"10.1007/s00414-024-03309-w","url":null,"abstract":"<p><p>Protonitazene is a synthetic benzoimidazole opioid of the nitazenes class, developed in the 1950s as an effective analgesic, but never released in the market due to severe side effects and major risk of dependence. The laboratory was involved in the determination of the cause of death for 5 subjects deceased in a French department of the Indian Ocean. The 5 victims were male, aged between 20 and 35 years. The first 2 victims were found dead in their prison cell and the 3 other victims were found dead in a squat. Therefore, we have developed and validated a specific procedure to identify and quantify the drug in post mortem specimens using LC-MS/MS. The procedure involves extraction of 0.5 mL fluid at pH 9.5 with a mixture of organic solvents in presence of 20 ng fentanyl-d<sub>5</sub> used as internal standard. Linearity of the method was verified from 0.1 to 20 ng/mL in both whole blood and urine (r<sup>2</sup> = 0.9983 and 0.9993, respectively). The limit of detection was estimated at 0.05 ng/mL in each matrix. Protonitazene was identified at < LOQ to 0.8 ng/mL, 0.4 to 2.9 ng/mL and 3.0 to 8.0 ng/mL in femoral blood, urine and bile, respectively. Post mortem concentrations were very low, which is consistent with reported high toxicity of protonitazene. As nitazenes represent a growing threat to public health in various parts of the world, this method seems to be a good response to the challenges posed by the identification of this class of substances.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"87-93"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142017374","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 : 2025-01-01Epub Date: 2024-09-20DOI: 10.1007/s00414-024-03328-7
Asyraff Md Najib, Khairunnisa' Md Yusof, Wan Muhammad Azfar Wan Shuaib, Mohamed Swarhib Shafee, Faridah Mohd Nor
Postmortem analysis of C-reactive protein (CRP) in autopsies has been extensively researched for its potential utility. This analysis could aid forensic pathologists in screening for and investigating the potential infectious or inflammatory causes of death, thereby guiding appropriate autopsy procedures. To assess the diagnostic accuracy of postmortem CRP analysis in autopsy settings, a thorough electronic literature search was conducted across databases such as PubMed, Scopus, Web of Science, and Cochrane Library. Two independent reviewers screened eligible studies, followed by a methodological quality assessment using the QUADAS-2 checklist. Utilising a random-effects model, hierarchical summary receiver operating characteristic (HSROC) curve analysis and bivariate model meta-analysis were performed to evaluate heterogeneity across studies. Of the 1286 studies initially identified, nine met the eligibility criteria for the final analysis. The pooled sensitivity of postmortem CRP analysis was 0.93 (95% CI, 0.76, 0.98), with a pooled specificity of 0.80 (95% CI, 0.71, 0.87). The prevalence across studies ranged from 0.23 to 0.68, with a median of 0.5. Moderate variability was observed in the heterogeneity assessment across the primary studies. In summary, the study findings indicate that postmortem serum CRP analysis demonstrates high diagnostic accuracy with moderate heterogeneity. Additionally, postmortem CRP testing may be useful as a screening tool in autopsy practice to rule out the likelihood of sepsis.
{"title":"A systematic review on the use of C-reactive protein in autopsy practice.","authors":"Asyraff Md Najib, Khairunnisa' Md Yusof, Wan Muhammad Azfar Wan Shuaib, Mohamed Swarhib Shafee, Faridah Mohd Nor","doi":"10.1007/s00414-024-03328-7","DOIUrl":"10.1007/s00414-024-03328-7","url":null,"abstract":"<p><p>Postmortem analysis of C-reactive protein (CRP) in autopsies has been extensively researched for its potential utility. This analysis could aid forensic pathologists in screening for and investigating the potential infectious or inflammatory causes of death, thereby guiding appropriate autopsy procedures. To assess the diagnostic accuracy of postmortem CRP analysis in autopsy settings, a thorough electronic literature search was conducted across databases such as PubMed, Scopus, Web of Science, and Cochrane Library. Two independent reviewers screened eligible studies, followed by a methodological quality assessment using the QUADAS-2 checklist. Utilising a random-effects model, hierarchical summary receiver operating characteristic (HSROC) curve analysis and bivariate model meta-analysis were performed to evaluate heterogeneity across studies. Of the 1286 studies initially identified, nine met the eligibility criteria for the final analysis. The pooled sensitivity of postmortem CRP analysis was 0.93 (95% CI, 0.76, 0.98), with a pooled specificity of 0.80 (95% CI, 0.71, 0.87). The prevalence across studies ranged from 0.23 to 0.68, with a median of 0.5. Moderate variability was observed in the heterogeneity assessment across the primary studies. In summary, the study findings indicate that postmortem serum CRP analysis demonstrates high diagnostic accuracy with moderate heterogeneity. Additionally, postmortem CRP testing may be useful as a screening tool in autopsy practice to rule out the likelihood of sepsis.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"253-265"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142286460","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 : 2025-01-01Epub Date: 2024-09-27DOI: 10.1007/s00414-024-03334-9
Varsha Warrier, Marta San-Millán
Sex estimation is essential for human identification within bioarchaeological and medico-legal contexts. Amongst the sexually dimorphic skeletal elements commonly utilised for this purpose, the pelvis is usually preferred because of its direct relationship with reproduction. Furthermore, the posterior part of the innominate bone has proven to have better preservation within degraded contexts. With the aim of investigating the potential of the vertical acetabular diameter as a sex marker, 668 documented individuals from three different Iberian skeletal collections were randomly divided into training and test samples and eventually analysed using different statistical approaches. Two traditional (Discriminant Function Analysis and Logistic Regression Analysis) and four Machine learning methodologies (Support Vector Classification, Decision Tree Classification, k Nearest Neighbour Classification, and Neural Networks) were performed and compared. Amongst these statistical modalities, Machine Learning methodologies yielded better accuracy outcomes, with DTC garnering highest accuracy percentages of 83.59% and 89.85% with the sex-pooled and female samples, respectively. With males, ANN yielded highest accuracy percentage of 87.70%, when compared to other statistical approaches. Higher accuracy obtained with ML, along with its minimal statistical assumptions, warrant these approaches to be increasingly utilised for further investigations involving sex estimation and human identification. In this line, the creation of a statistical platform with easier user interface can render such robust statistical modalities accessible to researchers and practitioners, effectively maximising its practical use. Future investigations should attempt to achieve this goal, alongside examining the influence of factors such as age, on the obtained accuracy outcomes.
{"title":"A statistical evaluation of the sexual dimorphism of the acetabulum in an Iberian population.","authors":"Varsha Warrier, Marta San-Millán","doi":"10.1007/s00414-024-03334-9","DOIUrl":"10.1007/s00414-024-03334-9","url":null,"abstract":"<p><p>Sex estimation is essential for human identification within bioarchaeological and medico-legal contexts. Amongst the sexually dimorphic skeletal elements commonly utilised for this purpose, the pelvis is usually preferred because of its direct relationship with reproduction. Furthermore, the posterior part of the innominate bone has proven to have better preservation within degraded contexts. With the aim of investigating the potential of the vertical acetabular diameter as a sex marker, 668 documented individuals from three different Iberian skeletal collections were randomly divided into training and test samples and eventually analysed using different statistical approaches. Two traditional (Discriminant Function Analysis and Logistic Regression Analysis) and four Machine learning methodologies (Support Vector Classification, Decision Tree Classification, k Nearest Neighbour Classification, and Neural Networks) were performed and compared. Amongst these statistical modalities, Machine Learning methodologies yielded better accuracy outcomes, with DTC garnering highest accuracy percentages of 83.59% and 89.85% with the sex-pooled and female samples, respectively. With males, ANN yielded highest accuracy percentage of 87.70%, when compared to other statistical approaches. Higher accuracy obtained with ML, along with its minimal statistical assumptions, warrant these approaches to be increasingly utilised for further investigations involving sex estimation and human identification. In this line, the creation of a statistical platform with easier user interface can render such robust statistical modalities accessible to researchers and practitioners, effectively maximising its practical use. Future investigations should attempt to achieve this goal, alongside examining the influence of factors such as age, on the obtained accuracy outcomes.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"393-409"},"PeriodicalIF":2.2,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11732899/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142346202","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}