International Journal of Legal Medicine最新文献

DNA mixture analysis poses a significant challenge in forensic genetics, particularly when dealing with degraded and trace amount DNA samples. Multi-SNPs (MNPs) are genetic markers similar to microhaplotypes but with smaller molecular sizes (< 75 bp), making them theoretically more suitable for analyzing degraded and trace amount samples. In this case report, we investigated a cold case involving a campstool stored for over a decade, aiming to detect and locate the suspect's DNA. We employed both conventional capillary electrophoresis-based short tandem repeat (CE-STR) analysis and next-generation sequencing-based multi-SNP (NGS-MNP) analysis. The typing results and deconvolution of the mixed CE-STR profiles were inconclusive regarding the presence of the suspect's DNA in the mixed samples. However, through NGS-MNP analysis and presence probability calculations, we determined that the suspect's DNA was present in the samples from Sect. 4-1 with a probability of 1-8.41 × 10^- 6 (99.999159%). This evidence contradicted the suspect's statement and aided in resolving the case. Our findings demonstrate the significant potential of MNP analysis for examining degraded and trace amount DNA mixtures in forensic investigations.

The inference of body fluids and tissues is critical in reconstructing crime scenes and inferring criminal behaviors. Nevertheless, present methods are incompatible with conventional DNA genotyping, and additional testing might result in excessive consumption of forensic scene materials. This study aims to investigate the feasibility of distinguishing common body fluids/tissues through the difference in mitochondrial DNA copy number (mtDNAcn). Four types of body fluids/tissues were analyzed in this study - hair, saliva, semen, and skeletal muscle. MtDNAcn was estimated by dividing the read counts of mitochondrial DNA to that of nuclear DNA (RR_mt/nu). Results indicated that there were significant differences in RR_mt/nu between different body fluids/tissues. Specifically, hair samples exhibited the highest RR_mt/nu (log₁₀RR_mt/nu: 4.3 ± 0.28), while semen samples showed the lowest RR_mt/nu (log₁₀RR_mt/nu: -0.1 ± 0.28). RR_mt/nu values for DNA samples without extraction were notably higher (approximately 2.9 times) than those obtained after extraction. However, no significant difference in RR_mt/nu was observed between various age and gender groups. Hierarchical clustering and Kmeans clustering analyses showed that body fluids/tissues of the same type clustered closely to each other and could be inferred with high accuracy. In conclusion, this study demonstrated that the simultaneous detection of nuclear and mitochondrial DNA made it possible to perform conventional DNA analyses and body fluid/tissue inference at the same time, thus killing two birds with one stone. Furthermore, mtDNAcn has the potential to serve as a novel and promising biomarker for the identification of body fluids/tissues.

In Chinese criminal law, the ages of 12, 14, 16, and 18 years old play a significant role in the determination of criminal responsibility. In this study, we developed an epiphyseal grading system based on magnetic resonance image (MRI) of the hand and wrist for the Chinese Han population and explored the feasibility of employing deep learning techniques for bone age assessment based on MRI of the hand and wrist. This study selected 282 Chinese Han Chinese males aged 6.0-21.0 years old. In the course of our study, we proposed a novel deep learning model for extracting and enhancing MRI hand and wrist bone features to enhance the prediction of target MRI hand and wrist bone age and achieve precise classification of the target MRI and regression of bone age. The evaluation metric for the classification model including precision, specificity, sensitivity, and accuracy, while the evaluation metrics chosen for the regression model are MAE. The epiphyseal grading was used as a supervised method, which effectively solved the problem of unbalanced sample distribution, and the two experts showed strong consistency in the epiphyseal plate grading process. In the classification results, the accuracy in distinguishing between adults and minors was 91.1%, and the lowest accuracy in the three minor classifications (12, 14, and 16 years of age) was 94.6%, 91.1% and 96.4%, respectively. The MAE of the regression results was 1.24 years. In conclusion, the deep learning model proposed enabled the age assessment of hand and wrist bones based on MRI.

Post-mortem computed tomography (PMCT) is routinely used at many forensic institutions to guide the following autopsy and is especially useful for diagnosing fractures. This systematic review aims to investigate the sensitivity and specificity of a PMCT scan in fracture diagnosis of the hyoid-larynx complex (HLC) compared to traditional autopsy in cases involving traumatic neck injuries. We searched PubMed, SCOPUS and Web of Science and included papers with cases n ≥ 3 published between January 2000 and April 2023 reporting on PMCT and autopsy findings of fractures of the HLC. The search provided 259 results of which 10 were included. Overall sensitivity and specificity were 0.70 [0.59; 0.79] and 0.92 [0.80; 0.97] for hyoid bone fractures and 0.80 [0.62; 0.91] and 0.76 [0.63; 0.85] for the thyroid cartilage. The results show great variation, and a large range between studies. These results indicate that PMCT cannot replace autopsy in cases with HLC fractures. Future larger prospective studies are needed, examining fracture details, scan protocols and different slice thicknesses using uniform reporting.

Cardiac arrhythmia is currently considered to be the direct cause of death in a majority of sudden unexplained death (SUD) cases, yet the genetic predisposition and corresponding endophenotypes contributing to SUD remain incompletely understood. In this study, we aimed to investigate the involvement of Coenzyme Q (CoQ) deficiency in SUD. First, we re-analyzed the exome sequencing data of 45 SUD and 151 sudden infant death syndrome (SIDS) cases from our previous studies, focusing on previously overlooked genetic variants in 44 human CoQ deficiency-related genes. A considerable proportion of the SUD (38%) and SIDS (37%) cases were found to harbor rare variants with likely functional effects. Subsequent burden testing, including all rare exonic and untranslated region variants identified in our case cohorts, further confirmed the existence of significant genetic burden. Based on the genetic findings, the influence of CoQ deficiency on electrophysiological and morphological properties was further examined in a mouse model. A significantly prolonged PR interval and an increased occurrence of atrioventricular block were observed in the 4-nitrobenzoate induced CoQ deficiency mouse group, suggesting that CoQ deficiency may predispose individuals to sudden death through an increased risk of cardiac arrhythmia. Overall, our findings suggest that CoQ deficiency-related genes should also be considered in the molecular autopsy of SUD.

Cranial vault thickness (CVT) and its variations provide valuable insights into an individual's biological attributes such as age and sex. This paper aimed to assess the correlations of CVT with age and sex and develop a regression model for age estimation in Malaysian subadults using computed tomography (CT) images. A total of 521 CT images (male/female: 279/242; age range: 0-20 years; Malay/Chinese/Indian: 221/145/155) were included in the study. Correlations of CVT measurements with age and sex, including frontal bone thickness (FBT), occipital bone thickness (OBT), left parietal bone thickness (LPBT), and right parietal bone thickness (RPBT) were assessed and regression formulae were developed for age estimation in subadults. A significant correlation between CVT measurements and age was demonstrated (p < 0.001). Age estimation was most accurate in the younger age group (< 2 years) at frontal and occipital, and accuracy decreases in the older age groups. Additionally, sexual dimorphism was evident in the frontal and parietal bone thickness within the age range of 3-6 years and 16-20 years, respectively. In conclusion, the findings suggested CVT measurements could be used to corroborate other age estimation methods for subadults.

The importance of non-human DNA in the forensic field has increased greatly in recent years, together with the type of applications. The molecular species identification of animal and botanical material may be crucial both for wildlife trafficking and crime scene investigation. However, especially for forensic botany, several challenges slow down the implementation of the discipline in the routine.Although the importance of molecular analysis of animal origin samples is widely recognized and the same value is acknowledged to the botanical counterpart, the latter does not find the same degree of application.The availability of molecular methods, especially useful in cases where the material is fragmented, scarce or spoiled preventing the morphological identification, is not well known. This work is intended to reaffirm the relevance of non-human forensic genetics (NHFG), highlighting differences, benefits and pitfalls of the current most common molecular analysis workflow for animal and botanical samples, giving a practical guide. A flowchart describing the analysis paths, divided in three major working areas (inspection and sampling, molecular analysis, data processing and interpretation), is provided. More real casework examples of the utility of non-human evidence in forensic investigations should be shared by the scientific community, especially for plants. Moreover, concrete efforts to encourage initiatives in order to promote quality and standardization in the NHFG field are also needed.

As two kinds of increasingly popular pets, the saliva of cat or canine is most likely to be left at the crime scene compared with the common types of body fluids in forensics. Accurately identifying the species of saliva samples found at the crime scene involving pets will help the investigators find available testing materials, reduce the consumption of reagents and save the investigative time of the case. Therefore, it is necessary to explore the characteristics and differences of saliva microbiomes of cat, canine and human. In this study, 16S rRNA gene amplicon sequencing technology was used to reveal microbial communities of saliva samples of healthy human, cat, and canine. Alpha diversity analyses indicated that canine saliva demonstrated the highest microbial diversity, followed by cat saliva, whereas human saliva microbial diversity was the lowest. The saliva samples of the three species all had their own unique microbial community compositions, and the dominant phyla of canine and cat salivas were Proteobacteria and Bacteroidete, while the dominant phyla of human saliva were Firmicutes and Proteobacteria. There was no significant statistical difference in the salivary microbiota obtained by the two collection methods (cotton swab and liquid saliva). The gender of cats and canines might have no effect on the salivary microbiota, but the different breeds had an impact on their saliva microbiomes. Principal coordinates analysis, non-metric multidimensional scaling analysis and random forest analysis all indicated significant differences in microbial community structures among the three species, allowing inference on the species sources of saliva samples by microbiome method. Differential microbial biomarkers for the salivas of three species were screened out using a variety of bioinformatics analyses, and the results demonstrated that Prevotella melaninogenica, Veillonella parvula, and Haemophilus parainfluenzae could be used as species-specific microbial biomarkers of human saliva. The detections of human species-specific microbes provide a potential method for determining human saliva.

Age-at-death estimation is an important issue in forensic medicine and anthropology. Initially, methods relied on morphological criteria, but with the advancement of radiology, new techniques such as morphological studies on multi-slice computed tomography (CT) reconstructions have emerged. Recent studies have shown promising results by investigating the correlation between age and bone mineral density (BMD). However, there is currently a lack of data on post-mortem CTs (PMCT) involving decomposed bodies, and limited information exists regarding changes in Hounsfield Units measurement in a post-mortem context. In light of these gaps, our study aimed to examine the relationship between age at death and pubic and ilium BMD using a sample of forensic bodies. We also aimed to determine whether post-mortem processes, such as putrefaction, could interfere with this correlation. Our retrospective analysis encompassed 637 PMCTs conducted before medicolegal autopsies at Tours University Hospital. Utilizing simple and multiple linear regressions, we investigated the correlation between age and pubic and ilium BMD, as well as the relationship between BMD and the radiologic alteration index (RAI), a scale employed to quantify the degree of putrefaction. Our findings indicate promising outcomes in age-at-death estimation using pubic and/or ilium BMD for bodies exhibiting no or moderate decomposition (RAI < 80), particularly among individuals under 40 years old. However, for highly decomposed corpses (RAI ≥ 80), the presence of gas infiltration significantly influences the BMD of both the ilium and pubis. Consequently, we advocate for the incorporation of the RAI score into the age estimation equation to enhance the accuracy of our results in such cases. Further investigation involving a larger cohort of decomposed bodies could facilitate refinement and validation of our method within this specific population.

Age estimation in forensic odontology is mainly based on the development of permanent teeth. To register the developmental status of an examined tooth, staging techniques were developed. However, due to inappropriate calibration, uncertainties during stage allocation, and lack of experience, non-uniformity in stage allocation exists between expert observers. As a consequence, related age estimation results are inconsistent. An automated staging technique applicable to all tooth types can overcome this drawback.This study aimed to establish an integrated automated technique to stage the development of all mandibular tooth types and to compare their staging performances.Calibrated observers staged FDI teeth 31, 33, 34, 37 and 38 according to a ten-stage modified Demirjian staging technique. According to a standardised bounding box around each examined tooth, the retrospectively collected panoramic radiographs were cropped using Photoshop CC 2021® software (Adobe®, version 23.0). A gold standard set of 1639 radiographs were selected (n₃₁ = 259, n₃₃ = 282, n₃₄ = 308, n₃₇ = 390, n₃₈ = 400) and input into a convolutional neural network (CNN) trained for optimal staging accuracy. The performance evaluation of the network was conducted in a five-fold cross-validation scheme. In each fold, the entire dataset was split into a training and a test set in a non-overlapping fashion between the folds (i.e., 80% and 20% of the dataset, respectively). Staging performances were calculated per tooth type and overall (accuracy, mean absolute difference, linearly weighted Cohen's Kappa and intra-class correlation coefficient). Overall, these metrics equalled 0.53, 0.71, 0.71, and 0.89, respectively. All staging performance indices were best for 37 and worst for 31. The highest number of misclassified stages were associated to adjacent stages. Most misclassifications were observed in all available stages of 31.Our findings suggest that the developmental status of mandibular molars can be taken into account in an automated approach for age estimation, while taking incisors into account may hinder age estimation.