Pub Date : 2024-12-06DOI: 10.1007/s00414-024-03390-1
Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim
{"title":"Correction to: Analysis of the sequencing quality of next-generation sequencing for the entire mitochondrial genome in decomposed human samples.","authors":"Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim","doi":"10.1007/s00414-024-03390-1","DOIUrl":"10.1007/s00414-024-03390-1","url":null,"abstract":"","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785281","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-05DOI: 10.1007/s00414-024-03365-2
Yu Qian, Qianqian Peng, Qili Qian, Xingjian Gao, Xinxuan Liu, Yi Li, Xiu Fan, Yuan Cheng, Na Yuan, Sibte Hadi, Li Jin, Sijia Wang, Fan Liu
Estimating individual age from DNA methylation at age associated CpG sites may provide key information facilitating forensic investigations. Systematic marker screening and feature selection play a critical role in ensuring the performance of the final prediction model. In the discovery stage, we screened for 811876 CpGs from whole blood of 2664 Chinese individuals ranging from 18 to 83 years of age based on a stepwise conditional epigenome-wide association study (SCEWAS). The SCEWAS identified 28 CpGs showing genome-wide significant and independent effects. Further restricting this panel to 10 most informative CpGs showed a tolerable loss of information. A linear model consisting of these 10 CpGs could explain 93% of the age variance (R2 = 0.93) in the training set (n = 2664). In an independent test set of Chinese individuals (n = 648), this model also provided highly accurate predictions (R2 = 0.85, mean absolute deviation, MAD = 3.20 years). The model was additionally validated in a public dataset of multiple ancestral origins (86 Europeans, 14 Asians, and 273 Africans) and the prediction accuracy reduced significantly (R2 = 0.85, MAD = 6.21 years), as might be expected due to different genomic backgrounds, sample sizes, and age ranges. Our 10 CpG model also outperformed the recently proposed 9-CpG model constructed in 390 Chinese males (R2 = 0.79 in test set). We also demonstrated that our SCEWAS approach outperformed the traditional EWAS and the elastic net approach in obtaining a small set of most age informative CpGs. Overall, our systematic genome-wide feature selection identified a small panel of 10 CpGs for accurate age estimation with high potential in forensic applications.
{"title":"A methylation panel of 10 CpGs for accurate age inference via stepwise conditional epigenome-wide association study.","authors":"Yu Qian, Qianqian Peng, Qili Qian, Xingjian Gao, Xinxuan Liu, Yi Li, Xiu Fan, Yuan Cheng, Na Yuan, Sibte Hadi, Li Jin, Sijia Wang, Fan Liu","doi":"10.1007/s00414-024-03365-2","DOIUrl":"https://doi.org/10.1007/s00414-024-03365-2","url":null,"abstract":"<p><p>Estimating individual age from DNA methylation at age associated CpG sites may provide key information facilitating forensic investigations. Systematic marker screening and feature selection play a critical role in ensuring the performance of the final prediction model. In the discovery stage, we screened for 811876 CpGs from whole blood of 2664 Chinese individuals ranging from 18 to 83 years of age based on a stepwise conditional epigenome-wide association study (SCEWAS). The SCEWAS identified 28 CpGs showing genome-wide significant and independent effects. Further restricting this panel to 10 most informative CpGs showed a tolerable loss of information. A linear model consisting of these 10 CpGs could explain 93% of the age variance (R<sup>2</sup> = 0.93) in the training set (n = 2664). In an independent test set of Chinese individuals (n = 648), this model also provided highly accurate predictions (R<sup>2</sup> = 0.85, mean absolute deviation, MAD = 3.20 years). The model was additionally validated in a public dataset of multiple ancestral origins (86 Europeans, 14 Asians, and 273 Africans) and the prediction accuracy reduced significantly (R<sup>2</sup> = 0.85, MAD = 6.21 years), as might be expected due to different genomic backgrounds, sample sizes, and age ranges. Our 10 CpG model also outperformed the recently proposed 9-CpG model constructed in 390 Chinese males (R<sup>2</sup> = 0.79 in test set). We also demonstrated that our SCEWAS approach outperformed the traditional EWAS and the elastic net approach in obtaining a small set of most age informative CpGs. Overall, our systematic genome-wide feature selection identified a small panel of 10 CpGs for accurate age estimation with high potential in forensic applications.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142780154","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-04DOI: 10.1007/s00414-024-03386-x
Suguru Torimitsu, Akari Nakazawa, Ambika Flavel, Hirotaro Iwase, Yohsuke Makino, Salina Hisham, Daniel Franklin
It is imperative in a forensic investigation to determine the identity of an unidentified corpse, for which a crucial starting point is to establish population affinity as part of the biological profile supplied by the forensic anthropologist. The present study investigates the feasibility of using multidetector computed tomography (MDCT) images to quantify craniometric variation between Japanese and Malay populations relative to the estimation of population affinity in a forensic context. The Japanese and Malay samples comprise MDCT scans of 252 (122 female; 130 male) and 182 (84 female; 98 male) adult individuals, respectively. A total of 18 measurements were acquired, and two machine learning methods (random forest modeling, RFM; support vector machine, SVM) were applied to classify population affinity. The accuracy of the two-way pooled-sex model was 88.0% for RFM and 94.5% for SVM, respectively. The four-way population and sex model produced an overall classification accuracy of 81.3% for RFM and 91.7% for SVM. The sex-specific models of population affinity showed correct rates of classification of more than 90% in both females (90.8% for RFM and 97.6% for SVM) and males (91.2% for RFM and 97.4% for SVM). Our findings clearly indicate that the cranial measurements acquired in MDCT images can be used for the forensic classification of Japanese and Malay individuals and thus serve as a reference for forensic anthropologists attempting to identify unidentified remains.
{"title":"Estimation of population affinity using cranial measurements acquired in multidetector computed tomography images of Japanese and Malay individuals.","authors":"Suguru Torimitsu, Akari Nakazawa, Ambika Flavel, Hirotaro Iwase, Yohsuke Makino, Salina Hisham, Daniel Franklin","doi":"10.1007/s00414-024-03386-x","DOIUrl":"https://doi.org/10.1007/s00414-024-03386-x","url":null,"abstract":"<p><p>It is imperative in a forensic investigation to determine the identity of an unidentified corpse, for which a crucial starting point is to establish population affinity as part of the biological profile supplied by the forensic anthropologist. The present study investigates the feasibility of using multidetector computed tomography (MDCT) images to quantify craniometric variation between Japanese and Malay populations relative to the estimation of population affinity in a forensic context. The Japanese and Malay samples comprise MDCT scans of 252 (122 female; 130 male) and 182 (84 female; 98 male) adult individuals, respectively. A total of 18 measurements were acquired, and two machine learning methods (random forest modeling, RFM; support vector machine, SVM) were applied to classify population affinity. The accuracy of the two-way pooled-sex model was 88.0% for RFM and 94.5% for SVM, respectively. The four-way population and sex model produced an overall classification accuracy of 81.3% for RFM and 91.7% for SVM. The sex-specific models of population affinity showed correct rates of classification of more than 90% in both females (90.8% for RFM and 97.6% for SVM) and males (91.2% for RFM and 97.4% for SVM). Our findings clearly indicate that the cranial measurements acquired in MDCT images can be used for the forensic classification of Japanese and Malay individuals and thus serve as a reference for forensic anthropologists attempting to identify unidentified remains.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768775","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-04DOI: 10.1007/s00414-024-03379-w
Franziska Spleis, Matthias Bantle, Dominik Schuldis, Lorenz M Bell, Annette Thierauf-Emberger, Wolfgang Weinmann
Alcohol consumption is widespread in most western countries such as Germany and a relevant risk factor for morbidity and mortality. Sensitive detection of alcohol consumption using suitable markers is therefore of central importance for clinical and forensic diagnostics. Direct alcohol markers are non-oxidative products of ethanol, which are produced in the body during the degradation of ethanol and provide high sensitivity and specificity. Phosphatidylethanol (PEth) is a promising marker for detecting alcohol consumption in the past days to weeks. The aim of this study was to determine the minimum amount of ethanol for a single alcohol consumption that leads to a detectable increase in blood PEth concentration. Therefore, 12 participants were recruited and, after four weeks of abstinence, drinking tests were carried out with target blood alcohol concentrations (BAC) of 0.6 g/kg and 0.75 g/kg. The PEth samples were obtained as dried-blood spots on the test day and the three following days and analyzed using LC-MS/MS. The result of the study were a detectable increase of PEth in the blood above limit of detection after both drinking events in all participants and an increase in PEth above the cutoff concentration for abstinence of 20 ng/mL in 9/12 (75%) and 7/12 (58%) participants, respectively, from a minimum BAC of 0.48 g/kg. These results make PEth appear promising as a marker for controlled moderate alcohol consumption.
{"title":"Detection of phosphatidylethanol after ethanol intake with targeted blood alcohol concentrations of 0.6 g/kg and 0.75 g/kg.","authors":"Franziska Spleis, Matthias Bantle, Dominik Schuldis, Lorenz M Bell, Annette Thierauf-Emberger, Wolfgang Weinmann","doi":"10.1007/s00414-024-03379-w","DOIUrl":"https://doi.org/10.1007/s00414-024-03379-w","url":null,"abstract":"<p><p>Alcohol consumption is widespread in most western countries such as Germany and a relevant risk factor for morbidity and mortality. Sensitive detection of alcohol consumption using suitable markers is therefore of central importance for clinical and forensic diagnostics. Direct alcohol markers are non-oxidative products of ethanol, which are produced in the body during the degradation of ethanol and provide high sensitivity and specificity. Phosphatidylethanol (PEth) is a promising marker for detecting alcohol consumption in the past days to weeks. The aim of this study was to determine the minimum amount of ethanol for a single alcohol consumption that leads to a detectable increase in blood PEth concentration. Therefore, 12 participants were recruited and, after four weeks of abstinence, drinking tests were carried out with target blood alcohol concentrations (BAC) of 0.6 g/kg and 0.75 g/kg. The PEth samples were obtained as dried-blood spots on the test day and the three following days and analyzed using LC-MS/MS. The result of the study were a detectable increase of PEth in the blood above limit of detection after both drinking events in all participants and an increase in PEth above the cutoff concentration for abstinence of 20 ng/mL in 9/12 (75%) and 7/12 (58%) participants, respectively, from a minimum BAC of 0.48 g/kg. These results make PEth appear promising as a marker for controlled moderate alcohol consumption.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768768","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-04DOI: 10.1007/s00414-024-03377-y
Esther Carneiro Ribeiro, Paulo Ricardo Martins-Filho, Diego Santiago de Mendonça, Marcela Lima Gurgel, Lucia Helena Soares Cevidanes, Cauby Maia Chaves Junior, Paulo Goberlânio de Barros Silva, Fábio Wildson Gurgel Costa
The human neurocranium exhibits significant sexual dimorphism, making it a valuable resource for anthropological studies. This systematic review aggregated and analyzed data from literature on sex differences in neurocranial dimensions as measured by computed tomography (CT). Following registration of the review protocol with PROSPERO (#CRD 42023442451), comprehensive searches were conducted in six databases and gray literature. From an initial pool of 1,499 articles, 14 met the inclusion criteria and were analyzed for data extraction, meta-analysis of linear measurements, risk of bias (RoB), and certainty of evidence (GRADE) evaluation. In the meta-analysis (Sample size- 1726 female and 1837 male), the inverse variance method and a random-effects model were employed using Review Manager (version 5.4.1). Statistical heterogeneity was quantified using the I2 coefficient. The studies primarily involved linear measurements between specific cranial landmarks, manually delineated using imaging software. Measurements analyzed included Maximum Cranial Length (G-Op), Cranial Base Length (N-Ba and N-Pfm), Cranial Height (Ba-Br), Frontal Chord (N-Br), Maximum Cranial Breadth (Eu-Eu), Minimum Frontal Breadth (Ft-Ft), Upper Facial Breadth (Fmt-Fmt), and Bimastoid Breadth (Ms-Ms). Results indicated that the mean values were significantly lower in females (p < 0.001), with no differences between the subgroups of dry skulls and living patients. The largest differences between sexes were observed in G-Op [-8.64 (-9.69, -7.59) mm] and N-Pfm [-8.83 mm (-12.75, -4.91)]. Our meta-analysis showed a low risk of bias, and measurements of N-Ba, Ba-Br, N-Br, and Ms-Ms demonstrated high certainty of evidence according to the GRADE approach. This research underscores the reliability of specific neurocranial measurements for sex differentiation in CT scans, with smaller dimensions consistently found in females.
{"title":"Computed tomography assessment of neurocranial structures for sexual dimorphism identification: a meta-analysis.","authors":"Esther Carneiro Ribeiro, Paulo Ricardo Martins-Filho, Diego Santiago de Mendonça, Marcela Lima Gurgel, Lucia Helena Soares Cevidanes, Cauby Maia Chaves Junior, Paulo Goberlânio de Barros Silva, Fábio Wildson Gurgel Costa","doi":"10.1007/s00414-024-03377-y","DOIUrl":"https://doi.org/10.1007/s00414-024-03377-y","url":null,"abstract":"<p><p>The human neurocranium exhibits significant sexual dimorphism, making it a valuable resource for anthropological studies. This systematic review aggregated and analyzed data from literature on sex differences in neurocranial dimensions as measured by computed tomography (CT). Following registration of the review protocol with PROSPERO (#CRD 42023442451), comprehensive searches were conducted in six databases and gray literature. From an initial pool of 1,499 articles, 14 met the inclusion criteria and were analyzed for data extraction, meta-analysis of linear measurements, risk of bias (RoB), and certainty of evidence (GRADE) evaluation. In the meta-analysis (Sample size- 1726 female and 1837 male), the inverse variance method and a random-effects model were employed using Review Manager (version 5.4.1). Statistical heterogeneity was quantified using the I<sup>2</sup> coefficient. The studies primarily involved linear measurements between specific cranial landmarks, manually delineated using imaging software. Measurements analyzed included Maximum Cranial Length (G-Op), Cranial Base Length (N-Ba and N-Pfm), Cranial Height (Ba-Br), Frontal Chord (N-Br), Maximum Cranial Breadth (Eu-Eu), Minimum Frontal Breadth (Ft-Ft), Upper Facial Breadth (Fmt-Fmt), and Bimastoid Breadth (Ms-Ms). Results indicated that the mean values were significantly lower in females (p < 0.001), with no differences between the subgroups of dry skulls and living patients. The largest differences between sexes were observed in G-Op [-8.64 (-9.69, -7.59) mm] and N-Pfm [-8.83 mm (-12.75, -4.91)]. Our meta-analysis showed a low risk of bias, and measurements of N-Ba, Ba-Br, N-Br, and Ms-Ms demonstrated high certainty of evidence according to the GRADE approach. This research underscores the reliability of specific neurocranial measurements for sex differentiation in CT scans, with smaller dimensions consistently found in females.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-02DOI: 10.1007/s00414-024-03381-2
Ioannis Ketsekioulafis, Konstantinos Katsos, Christoforos Kolentinis, Dimitrios Kouzos, Konstantinos Moraitis, Chara Spiliopoulou, Emmanouil I Sakelliadis
Various concerns relating to international humanitarian law and human rights were risen by natural catastrophes (tsunamis, floods, fires), the Covid-19 pandemic, the epidemic breakouts of Ebola, as well as the significant migrant wave observed in the Mediterranean region. Forensic Medicine has direct interactions with both domestic and international law, and thus is frequently asked to provide solutions for these issues. The term "Humanitarian Forensic Action" (HFA), which refers to the application of forensic science to serve humanitarian endeavors, was created. The management of crises including armed conflicts, natural disasters, and humanitarian crises is therefore related to HFA. HFA is a specialized field of forensic sciences that is used to handle the identification of the deceased and human remains, as well as to contribute to the management of the dead, the management of mass disasters, and the investigation of abuse and torture. The psychosocial effects that these tragic events have on the victims, their loved ones, and society at large represent another HFA-related field. Firstly this systematic review aims to present all available international literature that discusses HFA as a unique forensic discipline. Secondly, through this review, it is hoped that HFA awareness will be risen among forensic practitioners, thus allowing improved adoption in general and future development as a branch of forensic sciences. As far as we are aware, there isn't another systematic study that presents the entirety of HFA's branches at once.
{"title":"Humanitarian forensic medicine: a systematic review.","authors":"Ioannis Ketsekioulafis, Konstantinos Katsos, Christoforos Kolentinis, Dimitrios Kouzos, Konstantinos Moraitis, Chara Spiliopoulou, Emmanouil I Sakelliadis","doi":"10.1007/s00414-024-03381-2","DOIUrl":"https://doi.org/10.1007/s00414-024-03381-2","url":null,"abstract":"<p><p>Various concerns relating to international humanitarian law and human rights were risen by natural catastrophes (tsunamis, floods, fires), the Covid-19 pandemic, the epidemic breakouts of Ebola, as well as the significant migrant wave observed in the Mediterranean region. Forensic Medicine has direct interactions with both domestic and international law, and thus is frequently asked to provide solutions for these issues. The term \"Humanitarian Forensic Action\" (HFA), which refers to the application of forensic science to serve humanitarian endeavors, was created. The management of crises including armed conflicts, natural disasters, and humanitarian crises is therefore related to HFA. HFA is a specialized field of forensic sciences that is used to handle the identification of the deceased and human remains, as well as to contribute to the management of the dead, the management of mass disasters, and the investigation of abuse and torture. The psychosocial effects that these tragic events have on the victims, their loved ones, and society at large represent another HFA-related field. Firstly this systematic review aims to present all available international literature that discusses HFA as a unique forensic discipline. Secondly, through this review, it is hoped that HFA awareness will be risen among forensic practitioners, thus allowing improved adoption in general and future development as a branch of forensic sciences. As far as we are aware, there isn't another systematic study that presents the entirety of HFA's branches at once.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-28DOI: 10.1007/s00414-024-03380-3
Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim
Human body decomposition significantly damages DNA, particularly short tandem repeats used in DNA profiling. In degraded samples, mitochondrial DNA (mtDNA) is used for aiding identification, utilizing hard tissues such as bones as DNA sources. However, extracting DNA from these tissues is complex and time-consuming. This study explores soft tissues for mtDNA analysis employing a next-generation sequencing (NGS) panel. A total of 290 samples from 30 autopsy cases were analyzed using an NGS panel targeting the entire mitochondrial genome. Among them, 239 samples were from 25 decomposed bodies with total body scores (TBS) ranging from 3 to 24. Nine types of soft tissue, including heart, liver, kidney, lung, brain, pectoralis muscle, iliacus muscle, aorta, and uterus, were examined. Rib cartilage, a representative hard tissue, and blood samples served as reference materials. Over 90% of the mtDNA sequence was confirmed in 49.6% of decomposed samples, increasing to 78.7% in hypervariable regions. As much as 95-100% of the mtDNA sequence could be retrieved from several highly decomposed soft tissues, comparable to rib cartilage. Among soft tissues, the uterus and aorta showed the shortest regions of uncovered mtDNA, highlighting their potential in decomposed bodies. No significant correlation was found between mtDNA sequencing quality and TBS or the nuclear DNA degradation index. The NGS panel successfully obtained most mtDNA sequences from decomposed soft tissues, suggesting that decomposition does not preclude genetic testing. Employing uterine or aortic tissues as alternatives to hard tissues in forensic contexts could streamline procedures, saving both time and resources.
{"title":"Analysis of the sequencing quality of next-generation sequencing for the entire mitochondrial genome in decomposed human samples.","authors":"Seung Eun Lee, Ga Eun Kim, Dong Yeon Lee, Hajin Kim, Moon-Young Kim","doi":"10.1007/s00414-024-03380-3","DOIUrl":"10.1007/s00414-024-03380-3","url":null,"abstract":"<p><p>Human body decomposition significantly damages DNA, particularly short tandem repeats used in DNA profiling. In degraded samples, mitochondrial DNA (mtDNA) is used for aiding identification, utilizing hard tissues such as bones as DNA sources. However, extracting DNA from these tissues is complex and time-consuming. This study explores soft tissues for mtDNA analysis employing a next-generation sequencing (NGS) panel. A total of 290 samples from 30 autopsy cases were analyzed using an NGS panel targeting the entire mitochondrial genome. Among them, 239 samples were from 25 decomposed bodies with total body scores (TBS) ranging from 3 to 24. Nine types of soft tissue, including heart, liver, kidney, lung, brain, pectoralis muscle, iliacus muscle, aorta, and uterus, were examined. Rib cartilage, a representative hard tissue, and blood samples served as reference materials. Over 90% of the mtDNA sequence was confirmed in 49.6% of decomposed samples, increasing to 78.7% in hypervariable regions. As much as 95-100% of the mtDNA sequence could be retrieved from several highly decomposed soft tissues, comparable to rib cartilage. Among soft tissues, the uterus and aorta showed the shortest regions of uncovered mtDNA, highlighting their potential in decomposed bodies. No significant correlation was found between mtDNA sequencing quality and TBS or the nuclear DNA degradation index. The NGS panel successfully obtained most mtDNA sequences from decomposed soft tissues, suggesting that decomposition does not preclude genetic testing. Employing uterine or aortic tissues as alternatives to hard tissues in forensic contexts could streamline procedures, saving both time and resources.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142739227","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-25DOI: 10.1007/s00414-024-03375-0
Sari Matsumoto, Shojiro Takasu, Yuko Kanto, Kimiharu Iwadate
Acrolein, a polyamine produced from spermine during brain infarction, has recently been used in clinical settings for brain infarction risk assessment. However, few studies have investigated the diagnostic usefulness of acrolein measurement in postmortem specimens. In this study, we measured the acrolein concentration in postmortem specimens to assess its potential as a marker for stroke diagnosis. Acrolein concentrations in the serum and urine were measured using an enzyme-linked immunosorbent assay in 25, 19, 21, and 93 brain infarction, subarachnoid hemorrhage, cerebral hemorrhage, and control cases, respectively. No correlations or significant differences were observed between the acrolein concentrations in blood or urine, age, time since death, or sex. However, the serum acrolein concentrations increased significantly in cases of brain infarction, subarachnoid hemorrhage, and cerebral hemorrhage compared with non-stroke cases, with diagnostic cutoff values of 117.1, 119.9, and 130.3 nmol/mL, respectively. Conversely, the urinary acrolein concentrations decreased in specimens from subarachnoid hemorrhage and cerebral hemorrhage cases, suggesting dilution due to higher urine volumes. In conclusion, our findings suggest that serum acrolein concentration remains unaffected by the time elapsed after death. Moreover, the measurement of serum acrolein in postmortem specimens is effective in diagnosing stroke.
{"title":"Measurement of acrolein concentrations in postmortem specimens as an indicator for stroke diagnosis.","authors":"Sari Matsumoto, Shojiro Takasu, Yuko Kanto, Kimiharu Iwadate","doi":"10.1007/s00414-024-03375-0","DOIUrl":"https://doi.org/10.1007/s00414-024-03375-0","url":null,"abstract":"<p><p>Acrolein, a polyamine produced from spermine during brain infarction, has recently been used in clinical settings for brain infarction risk assessment. However, few studies have investigated the diagnostic usefulness of acrolein measurement in postmortem specimens. In this study, we measured the acrolein concentration in postmortem specimens to assess its potential as a marker for stroke diagnosis. Acrolein concentrations in the serum and urine were measured using an enzyme-linked immunosorbent assay in 25, 19, 21, and 93 brain infarction, subarachnoid hemorrhage, cerebral hemorrhage, and control cases, respectively. No correlations or significant differences were observed between the acrolein concentrations in blood or urine, age, time since death, or sex. However, the serum acrolein concentrations increased significantly in cases of brain infarction, subarachnoid hemorrhage, and cerebral hemorrhage compared with non-stroke cases, with diagnostic cutoff values of 117.1, 119.9, and 130.3 nmol/mL, respectively. Conversely, the urinary acrolein concentrations decreased in specimens from subarachnoid hemorrhage and cerebral hemorrhage cases, suggesting dilution due to higher urine volumes. In conclusion, our findings suggest that serum acrolein concentration remains unaffected by the time elapsed after death. Moreover, the measurement of serum acrolein in postmortem specimens is effective in diagnosing stroke.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142710110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-23DOI: 10.1007/s00414-024-03372-3
Alexandra Wulff, Joanna F Dipnall, Richard G D Fernandez, Emma C Cheshire, Michael J P Biggs, Hans de Boer, Samantha K Rowbotham
Globally, thousands of truck occupants die annually from motor vehicle incidents. During medico-legal investigations of such incidents, forensic practitioners are required to undertake thorough examinations of the injuries present. Despite this, very few studies assessing skeletal fractures in particular, in deceased truck occupants are currently available in the literature for practitioners. Consequently, this research aimed to investigate the whole-body skeletal fracture patterns resulting from fatal truck incidents. The study group comprised 62 adult truck occupants who died in motor vehicle incidents between 2006 and 2020 and were examined at the Victorian Institute of Forensic Medicine, Australia, and the East Midlands Forensic Pathology Unit, United Kingdom. Available intrinsic and extrinsic variable information was extracted from medico-legal reports and fracture patterns were documented using associated post-mortem computed tomography scans. Descriptive and basic inferential statistics were performed to analyse the pattern and extent of fracturing, and where possible, the role of variables. The study found 97% of occupants exhibited skeletal blunt force trauma, with 94% fracturing multiple anatomical regions. The thorax (85%), followed by the skull (63%) and cervical vertebrae (56%) comprised the most fractured and fragmented skeletal regions, whilst the upper limb (23%) and pelvic girdle (31%) were fractured least often. The variables body mass index, impact velocity and truck type were associated with fracture patterning. This research provides medico-legal investigators with a greater evidence base of the fracture patterns that result from fatal truck incidents, including the patterning, complexity and quantity of fracturing, and the potential mechanisms behind them.
{"title":"Investigating skeletal fracture patterns in truck occupants involved in fatal motor vehicle incidents.","authors":"Alexandra Wulff, Joanna F Dipnall, Richard G D Fernandez, Emma C Cheshire, Michael J P Biggs, Hans de Boer, Samantha K Rowbotham","doi":"10.1007/s00414-024-03372-3","DOIUrl":"https://doi.org/10.1007/s00414-024-03372-3","url":null,"abstract":"<p><p>Globally, thousands of truck occupants die annually from motor vehicle incidents. During medico-legal investigations of such incidents, forensic practitioners are required to undertake thorough examinations of the injuries present. Despite this, very few studies assessing skeletal fractures in particular, in deceased truck occupants are currently available in the literature for practitioners. Consequently, this research aimed to investigate the whole-body skeletal fracture patterns resulting from fatal truck incidents. The study group comprised 62 adult truck occupants who died in motor vehicle incidents between 2006 and 2020 and were examined at the Victorian Institute of Forensic Medicine, Australia, and the East Midlands Forensic Pathology Unit, United Kingdom. Available intrinsic and extrinsic variable information was extracted from medico-legal reports and fracture patterns were documented using associated post-mortem computed tomography scans. Descriptive and basic inferential statistics were performed to analyse the pattern and extent of fracturing, and where possible, the role of variables. The study found 97% of occupants exhibited skeletal blunt force trauma, with 94% fracturing multiple anatomical regions. The thorax (85%), followed by the skull (63%) and cervical vertebrae (56%) comprised the most fractured and fragmented skeletal regions, whilst the upper limb (23%) and pelvic girdle (31%) were fractured least often. The variables body mass index, impact velocity and truck type were associated with fracture patterning. This research provides medico-legal investigators with a greater evidence base of the fracture patterns that result from fatal truck incidents, including the patterning, complexity and quantity of fracturing, and the potential mechanisms behind them.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142695165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-19DOI: 10.1007/s00414-024-03352-7
Giovanni Aulino, Francesco Ausania, Paolo Fais, Giovanni Cecchetto, Davide Ferorelli, Silvia Damiana Visonà, Flavia Beccia, Stefania Boccia, Antonio Lanzone, Luca Morini, Guido Viel, Francesco Ventura, Alessandro Dell'Erba, Giancarlo Di Vella, Domenico De Leo, Antonio Oliva
Introduction: This study aimed to assess students' knowledge, awareness, and attitudes regarding forensic-medicine concepts taught during a Medicine and Surgery degree program at eight Italian universities. Additionally, the study aimed to evaluate the impact of the course on students' knowledge and attitudes toward choosing medical residency.
Materials and methods: A cross-sectional study was conducted through an anonymous web-based survey of medical students at eight italian universities. Descriptive, univariate, and logistic regression analyses were performed for the selected questions.
Results: The survey was completed by 1022 students. Forensic medicine appears to be important for providing training in the fundamental concepts of forensic medicine, especially professional liability, defensive medicine, and forensic pathology. The descriptive and univariate analyses demonstrate that the course can assist students in choosing their specialisation school. The multivariate analysis highlighted the impact of the forensic medicine course on orienting students' choice of medical residency, increasing it by nine times after attending the course. In the logistic regression analysis of the influence of medical liability on the choice of medical residency, students recognised a doubled effect after attending the course. Finally, the perceived usefulness of the course was significantly higher after attendance.
Conclusions: Forensic medicine courses have the task of defining the duties and responsibilities of forensic physicians, providing indispensable tools for future medical practitioners regardless of their future specialisation, and limiting the increasing use of defensive medicine. In conclusion, it is imperative for governments to implement measures directed at diminishing the risk of burnout arising from the ongoing pressure associated with the fear of medicolegal litigation, encompassing both criminal and civil contexts.
{"title":"Assessment of forensic medicine education impact on medical students' knowledge and specialisation attitudes: a multicenter analysis from Italian universities.","authors":"Giovanni Aulino, Francesco Ausania, Paolo Fais, Giovanni Cecchetto, Davide Ferorelli, Silvia Damiana Visonà, Flavia Beccia, Stefania Boccia, Antonio Lanzone, Luca Morini, Guido Viel, Francesco Ventura, Alessandro Dell'Erba, Giancarlo Di Vella, Domenico De Leo, Antonio Oliva","doi":"10.1007/s00414-024-03352-7","DOIUrl":"10.1007/s00414-024-03352-7","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to assess students' knowledge, awareness, and attitudes regarding forensic-medicine concepts taught during a Medicine and Surgery degree program at eight Italian universities. Additionally, the study aimed to evaluate the impact of the course on students' knowledge and attitudes toward choosing medical residency.</p><p><strong>Materials and methods: </strong>A cross-sectional study was conducted through an anonymous web-based survey of medical students at eight italian universities. Descriptive, univariate, and logistic regression analyses were performed for the selected questions.</p><p><strong>Results: </strong>The survey was completed by 1022 students. Forensic medicine appears to be important for providing training in the fundamental concepts of forensic medicine, especially professional liability, defensive medicine, and forensic pathology. The descriptive and univariate analyses demonstrate that the course can assist students in choosing their specialisation school. The multivariate analysis highlighted the impact of the forensic medicine course on orienting students' choice of medical residency, increasing it by nine times after attending the course. In the logistic regression analysis of the influence of medical liability on the choice of medical residency, students recognised a doubled effect after attending the course. Finally, the perceived usefulness of the course was significantly higher after attendance.</p><p><strong>Conclusions: </strong>Forensic medicine courses have the task of defining the duties and responsibilities of forensic physicians, providing indispensable tools for future medical practitioners regardless of their future specialisation, and limiting the increasing use of defensive medicine. In conclusion, it is imperative for governments to implement measures directed at diminishing the risk of burnout arising from the ongoing pressure associated with the fear of medicolegal litigation, encompassing both criminal and civil contexts.</p>","PeriodicalId":14071,"journal":{"name":"International Journal of Legal Medicine","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667936","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}