International Journal of Legal Medicine最新文献

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Postmortem data collection protocol for cardiac implantable electronic devices by the forensic pathologists: how to avoid conflicts of interest and minimize data loss? 法医病理学对心脏植入式电子设备的死后数据收集方案:如何避免利益冲突,最大限度地减少数据丢失?
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-11-01 Epub Date: 2025-08-11 DOI: 10.1007/s00414-025-03579-y
Sébastien Gaertner, Laurent Berthelon, Eric Quiring, Laurence Jesel-Morel, Jean-Sébastien Raul, Audrey Farrugia
{"title":"Postmortem data collection protocol for cardiac implantable electronic devices by the forensic pathologists: how to avoid conflicts of interest and minimize data loss?","authors":"Sébastien Gaertner, Laurent Berthelon, Eric Quiring, Laurence Jesel-Morel, Jean-Sébastien Raul, Audrey Farrugia","doi":"10.1007/s00414-025-03579-y","DOIUrl":"10.1007/s00414-025-03579-y","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"3071-3077"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144816559","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}
引用次数: 0
Reliability of London atlas for dental age estimation in an Australian cohort. 伦敦地图集对澳大利亚队列牙齿年龄估计的可靠性。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-11-01 Epub Date: 2025-07-09 DOI: 10.1007/s00414-025-03559-2
Amanda Chua, Christabel Halim, Ethan Pham, Selwin Samuel, Sobia Zafar, Sakher AlQahtani
{"title":"Reliability of London atlas for dental age estimation in an Australian cohort.","authors":"Amanda Chua, Christabel Halim, Ethan Pham, Selwin Samuel, Sobia Zafar, Sakher AlQahtani","doi":"10.1007/s00414-025-03559-2","DOIUrl":"10.1007/s00414-025-03559-2","url":null,"abstract":"<p><strong>Introduction: </strong>Age estimation is a very essential tool that is required for quite a lot of purposes in legal settings and for disaster victim identification purposes. In the recent years, London Atlas for dental age estimation has gained popularity and its applicability in Australia has not been sufficiently validated. Therefore, a study was aimed to study the ability of London Atlas to accurately estimate the ages of an Australian cohort.</p><p><strong>Aim: </strong>To test the age prediction reliability of the London Atlas on an Australian population and to determine if there is a difference in its prediction accuracy between males and females.</p><p><strong>Methods: </strong>A total of 193 panoramic radiographs were accessed from the University of Queensland's archival records. The London Atlas was used to estimate the dental ages of these radiographs of 96 females and 97 males, aged between 5 and 17 years.</p><p><strong>Results: </strong>Of the entire cohort, the difference between the mean estimated age (11.56 years) and mean chronological (11.92 years) age was 0.36 years. This difference was found to be statistically significant (p < 0.001). The over-estimation of ages was significant in age groups 6, 7, 8,10 and 11. The mean age difference for males was - 0.038 years while the difference for females was 0.471 years. However, the difference between the two sexes (0.509 years) was statistically insignificant (p > 0.001). The London Atlas shows a tendency to over-estimate ages of females and under-estimate ages of males.</p><p><strong>Conclusion: </strong>The London Atlas was found to overestimate the ages of children in an Australian population by approximately four and a half months (0.37 years). However, there was no difference in age prediction accuracy between males and females. Overall, the London Atlas has comparable accuracy with other dental age estimation methods and should be considered as a tool for age estimation.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2913-2920"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532637/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144591132","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}
引用次数: 0
Hypothermia drives fatty acid transporter 1 upregulation and lipid accumulation in renal tubules: evidence from forensic cases. 低温驱动脂肪酸转运蛋白1上调和肾小管脂质积累:来自法医案例的证据。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-11-01 Epub Date: 2025-06-19 DOI: 10.1007/s00414-025-03550-x
Kie Horioka, Hiroki Tanaka, Akira Hayakawa, Yoichiro Takahashi, Henrik Druid, Lasse Pakanen, Katja Porvari
{"title":"Hypothermia drives fatty acid transporter 1 upregulation and lipid accumulation in renal tubules: evidence from forensic cases.","authors":"Kie Horioka, Hiroki Tanaka, Akira Hayakawa, Yoichiro Takahashi, Henrik Druid, Lasse Pakanen, Katja Porvari","doi":"10.1007/s00414-025-03550-x","DOIUrl":"10.1007/s00414-025-03550-x","url":null,"abstract":"<p><p>Forensic pathology lacks generally accepted markers for hypothermia, relying instead on various physiological responses to low temperatures as postmortem diagnostic indicators. We have demonstrated that fatty acid transporter 1 (FATP1) is upregulated in renal tubules of a mouse hypothermia model, causing lipid accumulation. This study aims to determine if a similar phenomenon occurs in cases of human hypothermia and evaluate its potential as a diagnostic tool. Blood and renal tissue samples were collected from 17 hypothermia cases and 23 non-hypothermia cases. Free fatty acid (FFA) and triglyceride levels were quantified in both blood and renal tissue, while mRNA and protein were extracted from renal tissue to assess FATP1 expression. Oil Red O staining revealed lipid-positive droplets in renal tubular cells in hypothermia cases. Both FFA and triglyceride levels were significantly elevated in the blood and renal tissue samples of hypothermia cases. In cultured human renal tubular cells, low temperature upregulated FATP1 expression and FFA uptake, while FATP1 inhibition reduced FFA uptake. FATP1 mRNA and protein expression were significantly increased in hypothermic renal tissue compared with those in controls. Additionally, this expression positively correlated with FFA content in hypothermic renal tissue. These findings suggest that FATP1-dependent lipid accumulation in renal tubules is a conserved response in both animal models and human hypothermia cases, highlighting its potential as a diagnostic marker in forensic investigations of fatal hypothermia.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"3039-3049"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532652/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325647","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}
引用次数: 0
Fatalities in opioid agonist treatment with long-acting injectable buprenorphine. 阿片类激动剂与长效注射丁丙诺啡治疗的死亡率。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-11-01 Epub Date: 2025-06-18 DOI: 10.1007/s00414-025-03535-w
Margareeta Häkkinen, Claudia Mariottini, Pirkko Kriikku, Ilkka Ojanperä
{"title":"Fatalities in opioid agonist treatment with long-acting injectable buprenorphine.","authors":"Margareeta Häkkinen, Claudia Mariottini, Pirkko Kriikku, Ilkka Ojanperä","doi":"10.1007/s00414-025-03535-w","DOIUrl":"10.1007/s00414-025-03535-w","url":null,"abstract":"<p><strong>Purpose: </strong>Long-acting injectable buprenorphine (LAI BUP) is a novel opioid agonist treatment (OAT) medication with several benefits for patients, OAT units, and society. We present a case series of fatalities in OAT with LAI BUP.</p><p><strong>Methods: </strong>This was an audit of OAT patient records, supplemented with results of post-mortem (PM) investigation. We started with all deaths (N = 604) between 2018 and 2020 in Finland with a buprenorphine or norbuprenorphine finding in PM toxicology and with known substance use history or concomitant findings of illicit drugs. We then examined the patient records of the 43 individuals in OAT at the time of death. We analyzed information on OAT medication, OAT structure, and performance, including concomitant substance use, and PM findings.</p><p><strong>Results: </strong>Ten LAI BUP patients died during the study period, all of them in 2020, out of the 18 patients receiving some OAT that year. Among the LAI BUP patients, four died from buprenorphine poisoning. Eight patients had PM findings of abused drugs, always including unprescribed benzodiazepines. Two patients showed signs of additional buprenorphine use of which their OAT unit was unaware. Three patients were classified as non-compliant with OAT but had received no extra support to tackle their situation. Visits to the OAT clinic had mainly occurred only on injection days.</p><p><strong>Conclusions: </strong>LAI BUP comprised 56% of OAT medication among all deceased OAT patients in 2020. Despite its recognized benefits, LAI BUP treatment was associated with deaths. Psychosocial support among the deceased LAI BUP patients seemed inadequate.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2687-2694"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144325645","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}
引用次数: 0
Inversion time optimization in postmortem 1.5 tesla FLAIR brain imaging: a pilot study. 死后1.5特斯拉FLAIR脑成像的反演时间优化:一项初步研究。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-11-01 Epub Date: 2025-07-29 DOI: 10.1007/s00414-025-03571-6
Christine Bruguier, V Magnin, J-F Knebel, S Grabherr, V Dunet, P Genet
{"title":"Inversion time optimization in postmortem 1.5 tesla FLAIR brain imaging: a pilot study.","authors":"Christine Bruguier, V Magnin, J-F Knebel, S Grabherr, V Dunet, P Genet","doi":"10.1007/s00414-025-03571-6","DOIUrl":"10.1007/s00414-025-03571-6","url":null,"abstract":"<p><strong>Introduction: </strong>Postmortem magnetic resonance imaging (PMMR) has gained importance during the last decade in forensic pathology. While many clinical radiology sequences are applicable for the evaluation of the brain, the 3D FLAIR sequence shows different contrast in postmortem cases compared to living patients. Two factors-the temperature and the interval between official declaration of the death and PMMR (DC-PMMR interval) are suspected to influence the optimal inversion time (TI) needed to achieve living patient-like image contrast. This study aimed to investigate if our empirical approach had the same results as previous study.</p><p><strong>Materials and methods: </strong>3D FLAIR sequences with varying TI values (from 1660 ms to 900 ms, every 110 ms) were acquired. Two radiologists independently assessed the images, selecting the TI that produced the most patient-like contrast. Rectal temperature and the DC-PMMR interval were recorded, and Pearson correlation tests were conducted to evaluate interrelations between TI, temperature, and DC-PMMR interval. Interobserver reliability was assessed using PABAK.</p><p><strong>Result: </strong>Overall, 23 cases were analyzed. Rectal temperature ranged from 5.7 °C to 29.0 °C, and the DC-PMMR interval from 13.05 to 768 h. A moderate interobserver reliability (PABAK = 0.56) was observed. Significant correlations were observed between TI and both temperature (r = 0.70, p = 0.0014) and DC-PMMR interval (r = - 0.68, p < 0.0003).</p><p><strong>Conclusion: </strong>Our empirical approach trends the results of previous studies: Postmortem 3D FLAIR contrast is significantly affected by the temperature and the DC-PMMR interval, suggesting that TI should be adapted accordingly.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":"2847-2855"},"PeriodicalIF":2.3,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12532620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730334","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}
引用次数: 0
Fatal case of obstructive fibrinous tracheal pseudomembrane caused by hemorrhagic tracheal rupture during bronchoscopy: a multimodal post-mortem imaging case report. 支气管镜检查时因出血性气管破裂致阻塞性纤维性气管假膜死亡病例:多模式尸检影像病例报告。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-10-25 DOI: 10.1007/s00414-025-03617-9
Xin Zhao, Zhiming Chen, Bo Wang, Hongyang Li, Liyao Yang, Hang Mu, Weilong Chen, Chaopeng Yang, Guanglong He, Hongshi Cao
{"title":"Fatal case of obstructive fibrinous tracheal pseudomembrane caused by hemorrhagic tracheal rupture during bronchoscopy: a multimodal post-mortem imaging case report.","authors":"Xin Zhao, Zhiming Chen, Bo Wang, Hongyang Li, Liyao Yang, Hang Mu, Weilong Chen, Chaopeng Yang, Guanglong He, Hongshi Cao","doi":"10.1007/s00414-025-03617-9","DOIUrl":"https://doi.org/10.1007/s00414-025-03617-9","url":null,"abstract":"<p><p>Obstructive fibrinous tracheal pseudomembrane (OFTP) is a rare but potentially fatal condition characterized by the formation of a fibrin-rich membrane that occludes the airway. We report a case of a 16-year-old girl who died of asphyxia because of massive hemorrhage resulting from partial detachment of an OFTP and tracheal wall rupture during a rigid bronchoscopy procedure. The diagnosis of OFTP was confirmed through post-mortem magnetic resonance imaging (PMMR), post-mortem computed tomography (PMCT), and regional neck autopsy. This case underscores the importance of considering OFTP in patients undergoing bronchoscopy after short-term endotracheal intubation. It also highlights the diagnostic challenges posed by OFTP and demonstrates the forensic value of multimodal post-mortem imaging.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145368039","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}
引用次数: 0
Interpretable machine learning for individualized sex estimation from long bones. 从长骨中进行个性化性别估计的可解释机器学习。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-10-25 DOI: 10.1007/s00414-025-03635-7
Siam Knecht, Paolo Morandini, Lucie Biehler-Gomez, Yann Ardagna, Marie Perrin, Cristina Cattaneo, Christophe Roman, Pascal Adalian
{"title":"Interpretable machine learning for individualized sex estimation from long bones.","authors":"Siam Knecht, Paolo Morandini, Lucie Biehler-Gomez, Yann Ardagna, Marie Perrin, Cristina Cattaneo, Christophe Roman, Pascal Adalian","doi":"10.1007/s00414-025-03635-7","DOIUrl":"https://doi.org/10.1007/s00414-025-03635-7","url":null,"abstract":"<p><p>Sex estimation is an essential task in forensic anthropology. It is not only crucial for the identification of individuals from skeletal remains, but it is also essential for improving the reliability of other methods of biological profile estimation, such as age and stature, some of which perform better when sex is taken into account. This study investigates the application of machine learning (ML) techniques to sex estimation, with a particular focus on interpretability to address the \"black box\" challenge inherent in AI models. Using a diverse dataset of long bone measurements from 2,969 individuals, 12 different ML algorithms were evaluated. Missing data were handled using iterative regression imputation, though challenges arising from incomplete datasets underscored the need for improved data handling strategies. Linear Discriminant Analysis (LDA) emerged as the most accurate approach, achieving 95.2% accuracy. A key feature of this study is the integration of SHapley Additive exPlanations (SHAP) values, which provide individualized insights into the factors influencing each prediction. This interpretability framework ensures transparency and addresses legal and scientific concerns about the admissibility of AI-generated evidence in court. Indeed, misclassifications possibilities highlight the importance of clear, understandable models in forensic applications. The study emphasizes the significance of individualized prediction, illustrated by the probability of male or female classification for each individual, as well as the impact of missing values on prediction accuracy. This research demonstrates that ML models can effectively balance accuracy with interpretability, offering personalized, actionable insights for forensic investigations. It paves the way for AI-driven methods that meet both scientific rigor and legal standards, transforming sex estimation in forensic science by providing individualized, defensible evidence suitable for court.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145368028","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}
引用次数: 0
Assessing subjectivity in dental age estimation: intra- and inter-observer reliability across four well established third molar evaluation methods. 评估牙齿年龄估计的主观性:在四种建立良好的第三磨牙评估方法中,内部和内部观察者的可靠性。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-10-25 DOI: 10.1007/s00414-025-03616-w
Nikolaos Angelakopoulos, Rizky Merdietio Boedi, Ademir Franco, Nikita Polukhin, Akiko Kumagai, Ivan Galic, Jeta Kelmendi, Israel Soriano Vázquez, Sang-Seob Lee, Galina Zolotenkova, Roberto Scendoni, Stefano De Luca
{"title":"Assessing subjectivity in dental age estimation: intra- and inter-observer reliability across four well established third molar evaluation methods.","authors":"Nikolaos Angelakopoulos, Rizky Merdietio Boedi, Ademir Franco, Nikita Polukhin, Akiko Kumagai, Ivan Galic, Jeta Kelmendi, Israel Soriano Vázquez, Sang-Seob Lee, Galina Zolotenkova, Roberto Scendoni, Stefano De Luca","doi":"10.1007/s00414-025-03616-w","DOIUrl":"https://doi.org/10.1007/s00414-025-03616-w","url":null,"abstract":"<p><p>In forensic contexts, age assessments constitute matters of substantial legalconsequence, particularly in proceedings involving children and young adolescents. Dental age estimation (DAE) techniques are widely used for this purpose, especially in cases involving undocumented minors. This study assesses intra- and inter-observer reliability across four well-established DAE methods: Gleiser and Hunt Modified by Köhler (GHK), Demirjian (DEM), Kullman (KUL), and Cameriere's Third Molar Maturity Index (I3M). A total of 50 panoramic radiographs from individuals aged 14-23.99 years were analyzed by nine qualified forensic experts. The observers assessed the development stages of third molars using the three staging methods (GHK, DEM, KUL) and measured the I3M using Cameriere's metric approach. Primarily, the quantitative assessment for analyzing the agreement was Cohen's Kappa, Gwet's Agreement Coefficient (AC1) and (AC2), and Intraclass Correlation Coefficient (ICC). Statistical analysis revealed high intra-observer reliability for all methods, with coefficient values indicating strong agreement among individual observers. In terms of inter-observer reliability, the I3M achieved the highest agreement (ICC 0.986), followed by DEM (AC2 0.918), GHK (AC2 0.914), and KUL (AC2 0.868). Notably, maxillary third molars consistently showed lower inter-observer agreement than mandibular third molars, particularly when assessed using the DEM and GHK methods. The highest inter-observer agreement in cases where a tooth could not be staged or measured was observed for the KUL method (AC1 0.993), followed by I3M (AC1 0.988), with DEM and GHK, demonstrating equivalent levels of agreement (AC1 0.954). All of the tested methods yielded highly reliable results, especially DEM and GHK. The choice of a staging method should be guided by the specific objectives of each study. Moreover, while the I3M method demonstrated high reliability values, obtaining identical repeated measurements was nearly impossible due to its metric approach..</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145368050","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}
引用次数: 0
Single stab injuries to the trunk in survivors of corroborated assaults. 经过证实的袭击幸存者的躯干上有一处刺伤。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-10-23 DOI: 10.1007/s00414-025-03629-5
Maria Berg von Linde, Stefan Acosta, Ardavan M Khoshnood, Carl Johan Wingren
{"title":"Single stab injuries to the trunk in survivors of corroborated assaults.","authors":"Maria Berg von Linde, Stefan Acosta, Ardavan M Khoshnood, Carl Johan Wingren","doi":"10.1007/s00414-025-03629-5","DOIUrl":"https://doi.org/10.1007/s00414-025-03629-5","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145345134","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}
引用次数: 0
Linking STRs/SNPs and DNA methylation using massively parallel sequencing for potential forensic applications. 链接STRs/SNPs和DNA甲基化使用大规模平行测序潜在的法医应用。
IF 2.3 3区 医学
International Journal of Legal Medicine Pub Date : 2025-10-21 DOI: 10.1007/s00414-025-03602-2
Laura Schmelzer, Jerry Hoogenboom, Jana Naue
{"title":"Linking STRs/SNPs and DNA methylation using massively parallel sequencing for potential forensic applications.","authors":"Laura Schmelzer, Jerry Hoogenboom, Jana Naue","doi":"10.1007/s00414-025-03602-2","DOIUrl":"https://doi.org/10.1007/s00414-025-03602-2","url":null,"abstract":"<p><p>DNA methylation is an important target for crime trace analysis. Amongst others, the combined analysis of tissue-specific differentially methylated DNA positions (tDMP) and person-identifying single nucleotide polymorphisms (iSNP) has demonstrated potential to link known mixture contributors to their respective body fluid. As STRs are the gold standard for individualization, we aimed to implement a pipeline to perform STR analysis of bisulfite converted DNA and to characterize DNA methylation sites in their close proximity, potentially identifying body fluid-varying methylation. We analyzed forensically used STR regions in blood, semen, saliva, buccal mucosa, nasal secretion, menstrual blood and vaginal fluid using amplicon-based bisulfite massively parallel sequencing. Furthermore, we evaluated the DNA methylation of eight known tDMPs for blood, semen, saliva and vaginal fluid and ten surrounding iSNPs. Successful STR analysis and allele structure reporting from bisulfite converted DNA was possible for 18 of 22 STRs. We identified D1S1677, FGA, D5S2800, SE33, D8S1179 and D19S433 flanking sites with varying DNA methylation between body fluids, but not sufficient discrimination power for use as exclusive body fluid identification markers. A first exemplary experiment showed STR potential for assignment of the corresponding contributor in mixtures, most promising for specific mixture cases including semen and second pre-determined body fluid. We confirmed known tDMPs and linked iSNPs as valuable targets for contributor assignment in mixtures. FDSTools was used with a newly generated library file for the naming of STRs in bisulfite converted DNA and allele-linked DNAm analysis usable and editable even for other research questions and applications.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145336890","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}
引用次数: 0
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