International Journal of Legal Medicine最新文献

{"title":"Interpretation of molecular autopsy findings in 45 sudden unexplained death cases: from coding region to untranslated region","authors":"Shouyu Wang, Jianghua Du, Qi Shen, Cordula Haas, Jacqueline Neubauer","doi":"10.1007/s00414-024-03329-6","DOIUrl":"https://doi.org/10.1007/s00414-024-03329-6","url":null,"abstract":"<p>Sudden unexplained death (SUD) can affect apparently healthy adolescents and young adults with no prior clinical symptoms and no clear diagnostic findings at autopsy. Although primary cardiac arrhythmias have been shown to be the direct cause of death in the majority of SUD cases, the genetic predisposition contributing to SUD remains incompletely understood. Currently, molecular autopsy is considered to be an effective diagnostic tool in the multidisciplinary management of SUD, but the analysis focuses mainly on the coding region and the significance of many identified variants remains unclear. Recent studies have demonstrated the strong association between human disease and genetic variants in untranslated regions (UTRs), highlighting the potential role of UTR variants in the genetic predisposition to SUD. In this study, we searched for UTR variants with likely functional effects in the exome data of 45 SUD cases. Among 244 genes associated with cardiac diseases, three candidate variants with high confidence of pathogenicity were identified in the UTRs of <i>SCO2</i>, <i>CALM2</i> and <i>TBX3</i> based on a rigorous filtering strategy. A functional assay further validated the effect of these candidate variants on gene transcriptional activity. In addition, the constraint metrics, intolerance indexes, and dosage sensitivity scores of genes affected by the candidate variants were considered when estimating the consequence of aberrant gene expression. In conclusion, our study presents a practical strategy for UTR variant prioritization and functional annotation, which could improve the interpretation of molecular autopsy findings in SUD cohorts.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191024","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":"Age estimation of burnt human remains through DNA methylation analysis","authors":"Pierangela Grignani, Barbara Bertoglio, Maria Cristina Monti, Riccardo Cuoghi Costantini, Ugo Ricci, Martina Onofri, Paolo Fattorini, Carlo Previderè","doi":"10.1007/s00414-024-03320-1","DOIUrl":"https://doi.org/10.1007/s00414-024-03320-1","url":null,"abstract":"<p>The identification of human fire victims is a challenging task in forensic medicine. The heat-induced alterations of biological tissues can make the conventional anthropological analyses difficult. Even if the DNA profile of the victim is achieved, it is possible that no match can be found in a forensic DNA database, thus hindering positive identification. In such cases, any information useful to nail down a possible identity should be collected, such as DNA methylation analysis which could provide useful investigative leads. In the present study, five age-related epigenetic markers (ELOVL2, FHL2, KLF14, C1orf132, and TRIM59) were initially analysed in blood samples of 72 living Italian individuals of known age, using a Single Base Extension (SBE) assay. An age prediction model was built by multiple linear regression including all the markers (Mean Absolute Error, MAE: 3.15 years). This model was tested on 29 blood samples collected during autopsies from burnt human remains, already identified through DNA analysis, providing a MAE of 6.92 years. The model allowed a correct prediction in 79.3% of the cases (95% prediction interval), while six cases were associated with inaccurate predictions (min-max prediction error: 9.8–37.3 years). Among the different sample variables considered to explain these results, only the DNA degradation index was a relevant factor affecting the reliability of the predictions. In conclusion, the SBE typing of blood from burnt remains proved to be a reliable tool to estimate chronological age of most of the samples, also in consideration of its cost-effectiveness and the availability of CE sequencers in every forensic genetics laboratory.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191023","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":"A calcification subtraction method for postmortem coronary computed tomography angiography","authors":"Go Inokuchi, Masatoshi Kojima, Fumiko Chiba, Yumi Hoshioka, Maiko Yoshida, Shigeki Tsuneya, Hirotaro Iwase","doi":"10.1007/s00414-024-03321-0","DOIUrl":"https://doi.org/10.1007/s00414-024-03321-0","url":null,"abstract":"<p>Although coronary computed tomography (CT) angiography is a useful tool for evaluating coronary artery lesions both ante- and postmortem, accurate evaluation of the lumen is difficult when highly calcified lesions are present, owing to overestimation of stenosis caused by blooming and partial volume artifacts. In clinical practice, to overcome this diagnostic problem, a subtraction method has been devised to remove calcification by subtracting the precontrast image from the contrast image. In this report, we describe a calcification subtraction method using image analysis software for postmortem coronary CT angiography. This method was devised based on preliminary experimental results showing that the most accurate subtraction was achieved using images reconstructed with a narrower field of view and bone kernel, resulting in higher spatial resolution. This subtraction method allowed evaluation of lumen patency and the degree of stenosis on contrast-enhanced images in a verification using actual specimens where evaluation of the lumen had been difficult because of high calcification. The results were morphologically similar to the macroscopic findings. This method allows more rapid and reliable lesion retrieval and is expected to be useful for postmortem coronary angiography in forensic practice.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191033","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 utility of Neuron Specific Enolase (NSE) and Calcium Binding Protein B (S100B) for differentiating traumatic brain injury from other causes of death","authors":"Ramaswamy Nagappan, Siddhartha Das, Vinod Ashok Chaudhari, Prashant Shankarrao Adole, SreeRekha Jinkala, Harichandrakumar Kottyen Thazhath","doi":"10.1007/s00414-024-03332-x","DOIUrl":"https://doi.org/10.1007/s00414-024-03332-x","url":null,"abstract":"<p>In forensic pathology, identifying causes of death in traumatic brain injuries (TBIs) devoid of observable signs presents a significant challenge. Post-mortem biochemistry plays a crucial role in forensic medicine, particularly in determining causes of death in TBIs that lack macroscopic or histopathological evidence. This study aimed to evaluate the utility of Neuron Specific Enolase (NSE) and S100 Calcium Binding Protein B (S100B) in post-mortem serum and cerebrospinal fluid (CSF) as markers for TBI. The relationship of these biochemical markers with survival time and post-mortem interval was also studied. The study sample consisted of 63 cases each from the TBI and the Non-TBI (NTBI) group. The NTBI group comprised of deaths due to mechanical asphyxia, myocardial infarction and isolated trunk trauma. While serum S100B and CSF NSE emerged as a promising marker for TBI, CSF S100B failed to differentiate TBI from the other causes of death. The absence of an association between the level of markers and survival time or post-mortem interval in TBIs highlights the limitations of these biomarkers in such contexts. This study underscores the potential of biochemical markers like serum S100B and CSF NSE in identifying TBI deaths, aiding forensic diagnoses where there are evidentiary limitations in traditional methods. Further research exploring additional markers and body fluids could enhance diagnostic precision in forensic neuropathology.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191035","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":"Molecular age prediction using skull bone samples from individuals with and without signs of decomposition: a multivariate approach combining analysis of posttranslational protein modifications and DNA methylation","authors":"J. Becker, V. Bühren, L. Schmelzer, A. Reckert, S. B. Eickhoff, S. Ritz, J. Naue","doi":"10.1007/s00414-024-03314-z","DOIUrl":"https://doi.org/10.1007/s00414-024-03314-z","url":null,"abstract":"<p>The prediction of the chronological age of a deceased individual at time of death can provide important information in case of unidentified bodies. The methodological possibilities in these cases depend on the availability of tissues, whereby bones are preserved for a long time due to their mineralization under normal environmental conditions. Age-dependent changes in DNA methylation (DNAm) as well as the accumulation of pentosidine (Pen) and D-aspartic acid (D-Asp) could be useful molecular markers for age prediction. A combination of such molecular clocks into one age prediction model seems favorable to minimize inter- and intra-individual variation. We therefore developed (I) age prediction models based on the three molecular clocks, (II) examined the improvement of age prediction by combination, and (III) investigated if samples with signs of decomposition can also be examined using these three molecular clocks. Skull bone from deceased individuals was collected to obtain a training dataset (<i>n</i> = 86), and two independent test sets (without signs of decomposition: <i>n</i> = 44, with signs of decomposition: <i>n</i> = 48). DNAm of 6 CpG sites in <i>ELOVL2</i>,<i> KLF14</i>,<i> PDE4C</i>,<i> RPA2</i>,<i> TRIM59</i> and <i>ZYG11A</i> was analyzed using massive parallel sequencing (MPS). The D-Asp and Pen contents were analyzed by high performance liquid chromatography (HPLC). Age prediction models based on ridge regression were developed resulting in mean absolute errors (MAEs)/root mean square errors (RMSE) of 5.5years /6.6 years (DNAm), 7.7 years /9.3 years (Pen) and 11.7 years /14.6 years (D-Asp) in the test set. Unsurprisingly, a general lower accuracy for the DNAm, D-Asp, and Pen models was observed in samples from decomposed bodies (MAE: 7.4–11.8 years, RMSE: 10.4–15.4 years). This reduced accuracy could be caused by multiple factors with different impact on each molecular clock. To acknowledge general changes due to decomposition, a pilot model for a possible age prediction based on the decomposed samples as training set improved the accuracy evaluated by leave-one-out-cross validation (MAE: 6.6–12 years, RMSE: 8.1–15.9 years). The combination of all three molecular age clocks did reveal comparable MAE and RMSE results to the pure analysis of the DNA methylation for the test set without signs of decomposition. However, an improvement by the combination of all three clocks was possible for the decomposed samples, reducing especially the deviation in case of outliers in samples with very high decomposition and low DNA content. The results demonstrate the general potential in a combined analysis of different molecular clocks in specific cases.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142191034","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":"Investigation into temporal changes in the human bloodstain lipidome.","authors":"Weifen Sun, Ao Huang, Shubo Wen, Qianqian Kong, Xiling Liu","doi":"10.1007/s00414-024-03330-z","DOIUrl":"https://doi.org/10.1007/s00414-024-03330-z","url":null,"abstract":"<p><p>Bloodstains are crucial pieces of physical evidences found at violent crime scenes, providing valuable information for reconstructing forensic cases. However, there is limited data on how bloodstain lipidomes change over time after deposition. Hence, we deployed a high-throughput high-performance liquid chromatography-mass spectrometry (HPLC-MS) approach to construct lipidomic atlases of bloodstains, whole blood, plasma, and blood cells from 15 healthy adults. A time-course analysis was also performed on bloodstains deposited for up to 6 months at room temperature (~ 25°C). The molecular levels of 60 out of 400 detected lipid species differed dramatically between bloodstain and whole blood samples, with major disturbances observed in membrane glycerophospholipids. More than half of these lipids were prevalent in the cellular and plasmic fractions; approximately 27% and 10% of the identified lipids were uniquely derived from blood cells and plasma, respectively. Furthermore, a subset of 65 temporally dynamic lipid species arose across the 6-month room-temperature deposition period, with decreased triacylglycerols (TAGs) and increased lysophosphatidylcholines (LPCs) as representatives, accounting for approximately 8% of the total investigated lipids. The instability of lipids increased linearly with time, with the most variability observed in the first 10 days. This study sheds light on the impact of air-drying bloodstains on blood components at room temperature and provides a list of potential bloodstain lipid markers for determining the age of bloodstains.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142153977","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: Post-mortem to ante-mortem facial image comparison for deceased migrant identification.","authors":"Caroline Wilkinson, Martina Pizzolato, Danilo De Angelis, Debora Mazzarelli, Annalisa D'Apuzzo, Jessica Ching Liu, Pasquale Poppa, Cristina Cattaneo","doi":"10.1007/s00414-024-03325-w","DOIUrl":"10.1007/s00414-024-03325-w","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142145608","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":"Internal blood loss in fatal liver lacerations - determining lethality from relative blood loss.","authors":"Sandra Holmgren, Torfinn Beer","doi":"10.1007/s00414-024-03323-y","DOIUrl":"https://doi.org/10.1007/s00414-024-03323-y","url":null,"abstract":"<p><p>Certificates of medical evidence are often used to aid the court in assessing the cause and severity of a victim's injuries. In cases with significant blood loss, the question whether the bleeding itself was life-threatening sometimes arises. To answer this, the volume classification of hypovolemic shock described in ATLS^® is commonly used as an aid, where a relative blood loss > 30% is considered life-threatening. In a recent study of deaths due to internal haemorrhage, many cases had a relative blood loss < 30%. However, many included cases had injuries which could presumably cause deaths via other mechanisms, making the interpretation uncertain. To resolve remaining ambiguity, we studied whether deaths due to isolated liver lacerations had a relative blood loss < 30%, a cause of death where the mechanism of death is presumably exsanguination only. Using the National Board of Forensic Medicine autopsy database, we identified all adult decedents, who had undergone a medico-legal autopsy 2001-2021 (n = 105 952), where liver laceration was registered as the underlying cause of death (n = 102). Cases where death resulted from a combination of also other injuries (n = 79), and cases that had received hospital care, were excluded (n = 4), leaving 19 cases. The proportion of internal haemorrhage to calculated total blood volume in these fatal pure exsanguinations ranged from 12 to 52%, with 63% of cases having a proportion < 30%. Our results lend further support to the claim that the volume classification of hypovolemic shock described in ATLS^® is inappropriate for assessing the degree of life-threatening haemorrhage in medico-legal cases.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142125677","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":"Evaluation of foreign national cases applied to Tokat Gaziosmanpasa University Hospital Forensic Medicine Department, 2014-2022.","authors":"Selçuk Çetin, Mete Gedikbaş, Şule Sinem Gedikbaş","doi":"10.1007/s00414-024-03246-8","DOIUrl":"10.1007/s00414-024-03246-8","url":null,"abstract":"<p><strong>Introduction/aim: </strong>Turkey has experienced a heavy migration burden in recent years due to its location and benevolent policies. This study aimed to retrospectively examine and discuss the reports prepared for foreign nationals who requested assistance at the Forensic Medicine Department of Tokat Gaziosmanpaşa University Hospital in Tokat, which is located in the Middle Black Sea Region of Turkey, between 2014 and 2022.</p><p><strong>Materials and methods: </strong>This study retrospectively evaluated reports prepared between 2014 and 2022 in the outpatient clinics of Forensic Medicine at Tokat Gaziosmanpaşa University Hospital.</p><p><strong>Results: </strong>Based on the files reviewed, 219 cases were included in the study, of which 70.8% (n = 155) were male and 29.2% (n = 64) were female. Among the 75 cases referred by judicial authorities, 34.6% (n = 26) involved assault, 28% (n = 21) involved determination of the ability to understand the legal significance and consequences of the act, 16% (n = 12) involved traffic accidents, 8% (n = 6) involved poisoning, 9.3% (n = 7) involved abuse, and 4% (n = 3) involved age determinations.</p><p><strong>Discussion: </strong>Problems with immigrants, which have always been a reality due to Turkey's location on migration routes, have increased significantly in recent years. For this reason, we believe that studies with multicenter and larger series should be conducted to determine the current situation that foreigners create for themselves and Turkey to facilitate necessary arrangements, determine proposed solutions, increase the quality of services offered, and develop plans for the future.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11306730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141075222","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}

{"title":"Oxidative stress and NF-KB/iNOS inflammatory pathway as innovative biomarkers for diagnosis of drowning and differentiating it from postmortem submersion in both fresh and saltwater in rats.","authors":"Rana Adel, Manar Fouli Gaber Ibrahim, Samar Hisham Elsayed, Nada A Yousri","doi":"10.1007/s00414-024-03249-5","DOIUrl":"10.1007/s00414-024-03249-5","url":null,"abstract":"<p><strong>Background: </strong>Finding a dead body in water raises an issue concerning determining the cause of death as drowning because of the complex pathophysiology of drowning. In addition, the corpse may be submersed postmortem.</p><p><strong>Objective: </strong>Evaluate the role of oxidative stress markers and NF-KB/iNOS inflammatory pathway as diagnostic biomarkers in drowning and whether they could differentiate freshwater from saltwater drowning.</p><p><strong>Methods: </strong>This study included forty-five adult male albino rats classified into five groups: control group (C), Freshwater-drowned group (FD), Freshwater postmortem submersion group (FPS), saltwater-drowned group (SD), and saltwater postmortem submersion group (SPS). After the autopsy, the rats' lungs in each group were prepared for histological, immunohistochemical (caspase 3, TNF-α, NF-kB, COX-2 & iNOS), biochemical studies; MDA, NOx, SOD, GSH, VCAM-1, COX-2; and RT-PCR for the relative quantification of NF-kB and iNOS genes expression.</p><p><strong>Results: </strong>Lung oxidative markers were significantly affected in drowned groups than in postmortem submersion groups. Inflammatory pathway markers were also significantly increased in the drowned groups, with concern that all markers were significantly affected more in saltwater than in freshwater drowned group.</p><p><strong>Conclusions: </strong>It is concluded that the tested markers can be used accurately in diagnosing drowning and differentiating it from postmortem submersion with a better understanding of the mechanism of death in drowning as both mechanisms, inflammatory and oxidative stress, were revealed and involved.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11306576/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141154973","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}