International Journal of Legal Medicine最新文献

{"title":"Forensic insights into genetic polymorphism and tri-allelic pattern in the Brahmin population of Gujarat, India, using 21 autosomal STR markers.","authors":"Ankita Arunrao Fulkar, Vrunda Dave, Malay Ashvinkumar Shukla","doi":"10.1007/s00414-025-03619-7","DOIUrl":"https://doi.org/10.1007/s00414-025-03619-7","url":null,"abstract":"<p><p>India's genomic diversity is influenced by regional population dynamics and strong endogamy. The present study explores the genetic structure of the Brahmin population in Gujarat, a culturally and genetically preserved community, using autosomal Short Tandem Repeats (STR). Genomic DNA from the blood samples of 819 healthy individuals (562 males and 257 females) were subjected to autosomal STR typing using the GlobalFiler™ Express PCR Amplification Kit. Capillary electrophoresis-based fragment analysis was performed using the ABI 3500 Genetic Analyser, and proceeded to genotype analysis using GeneMapper ID-X. In total, 74 alleles were assessed with observed heterozygosity (Ho) of 0.80 ± 0.01, expected heterozygosity (He) of 0.79 ± 0.02, and unbiased expected heterozygosity (uHe) of 0.79 ± 0.02. Hardy-Weinberg equilibrium was followed by most of the markers except D16S539 and D3S1358. Forensic efficiency measures (PIC = 0.63-0.95; PD = 1; PE = 0.99999) confirmed the significance of these markers for genetic and forensic research. Additionally, comparative genomic analysis using principal component analysis (PCA) and multidimensional scaling (MDS) revealed close genetic affinity between Brahmins of Gujarat and Brahmins from Haryana and Rajasthan. These findings enhance the genetic makeup of the Brahmin population of Gujarat. Additionally, a novel germline-origin Type 2 tri-allelic pattern (8, 9, 11) at the D13S317 locus was identified in a healthy male participant, which was traced to a Type 2(B) tri-allelic variant at the same locus in his biological mother. These findings highlight the need for understanding the tri-allelic pattern for its appropriate interpretation in STR analysis.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145279633","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}

{"title":"The potential of mRNA markers in body fluids and personal source analysis based on the QNome nanopore sequencing.","authors":"Suyu Li, Haowen Song, Jing Liu, Liu Qin, Mengyao Zhao, Yiping Hou, Bin Cong, Zheng Wang","doi":"10.1007/s00414-025-03637-5","DOIUrl":"https://doi.org/10.1007/s00414-025-03637-5","url":null,"abstract":"<p><p>In forensic casework, unraveling the criminal nature of an event requires not only identifying the individual source of specific biological stains but also confirming their cellular origin. Recent studies have demonstrated the feasibility of identifying body fluids using specific mRNA markers and linking body fluids to their donors via coding region SNPs (cSNPs) within these mRNAs. Nanopore sequencing enables the detection of more cSNPs within longer mRNA amplicons due to its long-read capability. In this proof-of-principle study, we developed a targeted mRNA nanopore sequencing panel to simultaneously infer body fluid sources and identify individuals. This panel includes 12 body fluid-specific mRNAs and two reference genes (RGs), with a total of 41 cSNPs included in these 14 mRNA transcripts. Sequencing data showed that specific mRNAs were highly expressed in peripheral blood, semen, and menstrual blood, with an average read proportion exceeding 95% (excluding RGs reads). Cross-reactivity was observed in saliva and vaginal secretions, but all body fluid samples could still be accurately clustered. Alternative alleles were detected for 16 cSNPs, and genotyping results for randomly selected samples were validated for consistency with Sanger sequencing. The system demonstrated discriminatory power (DP) ranging from 0.5645 to 0.9017, providing information about the body fluid donor. However, further research is needed to identify more specific mRNAs, introduce additional highly polymorphic cSNPs, and perform evaluations on larger populations.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145279964","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}

{"title":"Facial soft tissue thickness in the sub-adult population of Türkiye: MRI-based assessment and its correlation with body-mass index (BMI).","authors":"Zehra Arslan, Elif Aze Bol, Seda Kaynak Şahap, Nergis Cantürk, Gürol Cantürk","doi":"10.1007/s00414-025-03588-x","DOIUrl":"https://doi.org/10.1007/s00414-025-03588-x","url":null,"abstract":"<p><p>This study conducted a retrospective analysis of head and neck magnetic resonance imaging (MRI) scans from the Pediatric Radiology Department at Ankara University Faculty of Medicine, covering the period from 2014 to 2022. The objective was to assess facial soft tissue thickness (FSTT) in children aged 3-18 years, thereby contributing to forensic and anthropological identification processes and establishing a dataset. A sample of 300 healthy youngsters was included, divided into three age groups: 3-8 years, 9-13 years, and 14-18 years, according to age and body mass index (BMI) percentiles. The findings demonstrate that FSTT rises with age, with subnasale dimensions attaining 15.0 ± 2.9 mm in males and 12.6 ± 2.3 mm in females at the age range of 14-18 years (p < 0.001). Males demonstrated elevated FSTT values at the glabella landmark, whereas children in the 85th and 95th BMI percentiles exhibited significantly higher FSTT values (p < 0.001). The most significant BMI-related differences were observed in the labiale superius and subnasale in females aged 9 to 18 years. This study offers the pilot comprehensive dataset on variations in FSTT across children, categorized by age, sex, and BMI in Türkiye. The dataset primarily facilitates profile-based approximations, given its emphasis on midline features. However it may also provide limited utility in 3D facial reconstruction efforts. The findings will be essential for forensic and anthropological research. The findings address a gap in the forensic science literature and highlight the necessity for more research with varied age groups and foreigners.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145280245","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}

{"title":"Post-mortem fundus examination after sudden unexpected death in infancy (SUDI): can we do better? a study based on the French SUDI registry.","authors":"Romain Provost, Jean- Baptiste Ducloyer, Caroline Rambaud, Christele Gras-LeGuen, Renaud Clement, Sophie T Brouard, Audrey Farrugia, Mathilde Ducloyer","doi":"10.1007/s00414-025-03613-z","DOIUrl":"https://doi.org/10.1007/s00414-025-03613-z","url":null,"abstract":"<p><strong>Background: </strong>Fundus examination is crucial to assess retinal haemorrhages after sudden unexpected death in infancy (SUDI), to rule out fatal abusive head trauma.</p><p><strong>Objective: </strong>To determine how many SUDI cases in France underwent a fundus examination, and to identify factors associated with its completion.</p><p><strong>Method: </strong>Children who died from SUDI included in the French SUDI registry were analysed. It was determined whether a fundus examination had been performed and, if so, whether the results showed the presence of retinal haemorrhages. Groups having undergone or not fundus examinations were compared in terms of age at death, gender, perinatal history, need for resuscitation, post-mortem investigations (brain imaging, autopsy), potential prosecutor's intervention, and presence of traumatic injuries. A survey was sent to referral centres to determine whether and how they performed fundus examinations.</p><p><strong>Results: </strong>Our study included 1,326 cases of SUDI occurring between 2015 and 2022, of which 252 (19%) underwent fundus examinations, with a significant increase from 10 (9.3%) in 2015 to 57 (31.8%) in 2022 (p < 0.001). Significant differences were observed between the groups with and without fundus examination in the number of autopsies (217 [86.8%] vs. 845 [79%]; p = 0.004), and the presence of traumatic injuries (15 [6.4%] vs. 23 [2.3%]; p = 0.003). Retinal haemorrhages were detected in 26 children, and were significantly associated with higher rates of prosecutor's interventions after hospital admission (12 [57.1%] vs. 32 [16.2%]; p < 0.001), cardiac activity resumption (9 [40.9%] vs. 17 [7.9%]; p < 0.001) and traumatic injuries (14 [53.8%] vs. 1 [0.5%]; p < 0.001). Of the 34 centres surveyed, 15 completed the questionnaire, and only 5 reported regularly performing fundus examinations.</p><p><strong>Conclusion: </strong>A fundus examination is performed in only 19% of SUDI cases in France. Efforts should be made to generalize this examination to avoid missing out fatal abusive head trauma.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274639","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}

{"title":"Ex-situ identification of vertebral artery injuries from stab wounds through contrast-enhanced fluoroscopy and micro-CT.","authors":"Laura Secco, Giorgia Franchetti, Guido Viel, Paolo Fais, Filippo Pirani, Barbara Bonvicini, Anna Michielin, Silvia Damiana Visonà, Chiara Giraudo, Giovanni Cecchetto","doi":"10.1007/s00414-025-03608-w","DOIUrl":"https://doi.org/10.1007/s00414-025-03608-w","url":null,"abstract":"<p><p>Vertebral artery injuries (VAIs) are rarely observed in forensic practice and can result from either penetrating injuries or blunt force trauma to the neck. The identification of such injuries represents a pivotal challenge for forensic pathologists, due to the protected anatomical course of these vessels, particularly in their extracranial tract. Over the years, several approaches have been proposed to address this issue, including vessel gross examination through different dissection techniques, the water injection method and, more recently, post-mortem computed tomography angiography (PMCTA), which is currently deemed the gold standard approach. However, no studies have employed contrast-enhanced radiological techniques using an ex-situ approach to investigate VAIs.The aim of this study is to investigate the diagnostic potential of fluoroscopy and contrast-enhanced micro-CT in detecting extracranial vertebral artery lesions via an ex-situ approach. Cervical blocks (C1-C3) from three forensic cases of neck stab wounds were collected, and fluoroscopy and contrast-enhanced micro-CT, using Barium Sulfate and Diatrizoate Sodium as contrast agents respectively, were performed. The above radiological techniques proved accurate and reliable in identifying vascular injuries, exhibiting enhanced diagnostic performance compared to conventional macroscopic examination. Fluoroscopy provides dynamic imaging, enabling real-time detection of contrast leakages, while contrast-enhanced micro-CT allows simultaneous assessment of both vascular injuries and bone fractures. Therefore, these promising techniques could serve as complementary tools to conventional diagnostic approaches, offering an accurate and comprehensive characterization of the cervical injury pattern in cases of fatal penetrating neck trauma.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274663","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}

{"title":"High-voltage electrocution at a hydroelectric plant: a case report with SEM-EDS analysis of electrical wounds.","authors":"Lise Pestourie, Eulalie Pefferkorn, Claudie Josse, Anthony Blanc, Norbert Telmon, Céline Guilbeau-Frugier","doi":"10.1007/s00414-025-03628-6","DOIUrl":"https://doi.org/10.1007/s00414-025-03628-6","url":null,"abstract":"<p><p>Electrocution remains a significant cause of workplace fatalities, particularly in high-voltage environments. Diagnostic challenges arise from the often non-specific internal and external autopsy findings, necessitating robust evidence for reconstructing events and determining liability. This report presents a case of fatal high-voltage electrocution at a hydroelectric plant, focusing on the analysis of suspected electrical entry and exit wounds using scanning electron microscopy coupled with energy-dispersive X-ray spectroscopy (SEM-EDS). A middle-aged male electrician sustained fatal injuries while working on a 63 kV transformer. Autopsy revealed electrical burns consistent with electrocution. SEM-EDS analysis identified an electrical entry wound on the right hand, characterized by metallization consistent with contact with a conductive object, specifically a metal tape measure found near the body. This finding supports a scenario involving safety protocol violations and human error. Multiple exit wounds were observed, a recognized phenomenon in high-voltage electrocutions. Notably, metallization was confirmed at exit wounds in skin samples from the left hand and feet, a finding typically considered a hallmark of electrical entry wounds. This unexpected observation underscores the importance of analyzing both entry and exit wounds with SEM-EDS to avoid misinterpretations. This case highlights the crucial role of SEM-EDS in the forensic analysis of electrical injuries, facilitating accurate event reconstruction and aiding in liability assessment.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274656","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}

{"title":"From cartilage to bone: the utility of ultrasonography in age estimation using forearm bones: a novel scoring system approach.","authors":"Manar Maher Fayed, Donia A Abo Seada, Radwa M Elkhouly, Ahmed Abdel Raouf Hashem, Asmaa F Sharif","doi":"10.1007/s00414-025-03623-x","DOIUrl":"https://doi.org/10.1007/s00414-025-03623-x","url":null,"abstract":"<p><p>Forensic age estimation is of critical legal importance. This study aimed to assess the utility of ultrasonography (US) as an alternative, safe, non-invasive technique that could replace other roentgenographic modalities in forensic age estimation. Epiphyseal maturation staging of the upper and lower ends of the radius and ulna using US was conducted for 155 Egyptian juveniles and adolescents, showing a mean age of 15.8 ± 3.7 years. Above the age of 17, all females demonstrated complete epiphyseal closure of the proximal bone ends, and above the age of 18, the distal end of ulna was completely united. All males demonstrated complete epiphyseal union of the proximal ulna above 17 years, the proximal radius above 18 years, and distal ulnas above 20 years. A proposed model. [Formula: see text] using a novel total score assessing epiphyseal maturation of all forearm bones could significantly explain 85.6% of age variations, with very low error, where the predicted age deviates from the real age by approximately 1.0 to 1.2 years. We observed a substantial to near-perfect agreement between the estimated and chronological age (coefficients>0.879). The overall score has the highest accuracy in predicting the ages of 15, 16, 17, and 18 years (p < 0.001). Females showed accelerated epiphyseal maturation compared to males, and the proximal forearm bones approached full maturation before the distal ends. Using the proposed novel score assessing the proximal and distal ends of the ulna and radius through US offers a simple and radiation-free approach that could predict age with precision.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145274679","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}

{"title":"Update on the similarities between SADS, SIDS, and SUDEP: Three sides of the same pyramid?","authors":"Rosario Barranco, Isabella Caristo, Andrea Molinelli, Gabriele Rocca, Nicolò Vernazza, Francesco Ventura","doi":"10.1007/s00414-025-03612-0","DOIUrl":"https://doi.org/10.1007/s00414-025-03612-0","url":null,"abstract":"<p><p>Sudden Arrhythmic Death Syndrome (SADS), Sudden Unexpected Death In Epilepsy (SUDEP) and Sudden Infant Death Syndrome (SIDS) present some overlaps and similarities in terms of molecular autopsy and pathophysiological mechanism. Genes associated with cardiac arrhythmias represent promising biomarkers, in light of the growing evidence of neurocardiac interconnections and phenotypic similarities between SUDEP, SADS and also SIDS. The interactions between these different forms of sudden death are reciprocal and could help to understand the mechanism of death that in some cases remains unexplained. In this review of the literature we analyse the overlaps and the common aspects between these different conditions of sudden death, we discuss the clinical, social and medico-legal implications. SIDS, SADS and SUDEP still represent a huge challenge for the Forensic Pathologist and their diagnostic interpretation contains some ambiguities and evaluation difficulties. All cases of sudden death require a thorough cardio-pathological and neuropathological evaluation. A thorough anamnesis and molecular analysis of the major channel protein genes (such as SCN5A, RYR2, KCHN2, and KCNQ1) should be performed in these cases, in addition to histological and toxicological analyses. Only a thorough and multidisciplinary evaluation can help to better define the cases of sudden death, avoid improper classifications and clarify the pathological mechanism more precisely.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250966","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}

{"title":"Correction to: Population substructure affects kinship testing in multi-ethnic areas of China.","authors":"Yuhan Hu, Xuan Dai, Haoyu Wang, Yifan Wei, Yuntao Cai, Chun Yang, Qiang Zhu, Ji Zhang","doi":"10.1007/s00414-025-03639-3","DOIUrl":"https://doi.org/10.1007/s00414-025-03639-3","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145244476","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}

{"title":"Species-level taxonomic characterization enhances the power of saliva and feces stain microbiota for inferring the time since deposition (TsD).","authors":"Litao Huang, Jiaqian Le, Mingyue Zhao, Jieyu Du, Xiaohui Chen, Qin Su, Linying Ye, Quyi Xu, Xiaolong Han, Bofeng Zhu, Chao Liu, Ling Chen","doi":"10.1007/s00414-025-03607-x","DOIUrl":"https://doi.org/10.1007/s00414-025-03607-x","url":null,"abstract":"<p><p>Accurate identification of body fluid stains found at crime scenes and inference of the time since deposition support forensic investigations. Forensic microbiology is recognized as a promising approach for addressing these challenges. Saliva and feces, which are frequently obtained as biological samples at crime scenes, contain greatly enriched bacterial communities. Therefore, we collected saliva and feces stains exposed to indoor environment. To simulate the time intervals typically encountered in forensic evidence examination, samples were exposed to indoor conditions for a 3-day short-term interval, and control samples were collected on the 3rd day to simulate the time point of arrest. We utilized the 16S rDNA full-length sequencing to characterize the microbial community. The results showed that microbial community composition of fresh body fluids, whether saliva or feces samples, remained stable on day 0 and day 3, with no substantial changes after 6 hour of exposure. The relative abundance of the dominant flora changed mainly after 24 h of exposure, such as an increase in Streptococcus oralis in saliva and a decrease in Bifidobacterium adolescentis in feces, and remained stable after 48 h and 72 h. The decrease in humidity seems to cause a reduction in some fluid flora, such as Prevotella melaninogenica in saliva. This suggests that collecting body fluid stain samples and recording environmental factors as early as possible after a case may increase the reliability of the evidence. In addition, saliva and feces stains exhibited distinct microbial composition profiles after exposure, indicating that they retained the potential for body fluid identification. The difference mainly stemmed from the respective dominant flora. Then, the time since deposition (TsD) prediction models were constructed, using a random forest regression algorithm, based on genus-level and species-level, respectively. The predictive efficacy of species-level microbial markers was higher, with the mean absolute error (MAE) of the saliva and feces prediction models being 0.30 day and 0.56 day, respectively. This finding suggests that using species-level microbial markers to determine the type and time since deposition (TsD) of body fluid stains has promising forensic value.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145250925","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}