International Journal of Legal Medicine最新文献

The diagnosis of abusive head trauma (AbHT) in children is a challenging one that needs to be differentiated from natural disease and accidental head injury (AcHT). There is increasing evidence from the Neuroradiology field showing spinal cord injury in children subject to AbHT, which has, so far, been poorly investigated pathologically. In this study we retrospectively reviewed the forensic records of 110 paediatric head injury cases over an eight-year-period. The records included detailed circumstances of death and clinical history alongside neuropathology, ophthalmic pathology and osteo-articular pathology. Based on the final multidisciplinary agreement, the 110 case were grouped into AbHT (n = 40), AcHT (n = 9), not clearly accidental or abusive ("undetermined" (UHT) n = 8) and non-traumatic brain injury (NTBI, n = 53). The spinal cord pathology present within each group was compared. Spinal subdural haematoma (SDH) was present in 71% of AbHT and 50% of AcHT cases and were located predominantly at the thoracolumbar level. In AbHT cases without spinal SDH, the suspected mechanism of injury was that of head impact rather than shaking, whilst cases of AcHT with spinal SDH were associated with direct trauma to the spinal cord. Injury of spinal nerve roots in AbHT was almost three times that seen in the accidental head injury group (58% vs. 17%). The study shows that pathological examination of the spinal cord and spinal nerve roots is of high value in investigating AHT and may help in differentiating AbHT from AcHT.

The authors present a case involving a 37-year-old woman discovered in an operating freezer. Suicide hypothesis has been considered from the beginning. Due to the exceptional scene circumstances, a forensic autopsy was performed. Apart from some non-specific hypothermia and asphyxia signs, the autopsy revealed several skull fractures, prompting extensive anatomopathological and histological analyses. These analyses confirmed the fractures origin and determined whether they were ante-mortem or post-mortem, thus ruling out the possibility of a criminal act disguised as suicide. The authors also describe the challenges in determining the cause of death, particularly the issues related to the post-mortem diagnosis of lethal hypothermia and asphyxia. This case is the first in the literature to describe suicide by exposure to cold in a confined environment. It highlights the importance of close collaboration between forensic pathologists, histologists, toxicologists, and police investigators to answer judicial inquiries.

The diagnostic use of the diatom test for drowning has been under investigation for more than a century. Despite continuing research, its true usefulness remains controversial and under debate. Data regarding the extent to which diatoms can penetrate the lungs and other organs of drowning victims are conflicting; similar discrepancies exist as to the presence of diatoms in the organs of living individuals; and as to the occurrence of postmortem (PM) contamination. To shed light on current understanding, we conducted a systematic review based on the Preferred Reporting Items for Systematic Review and Meta-Analysis (PRISMA) to investigate how the presence of diatoms PM may be interpreted during medico-legal investigations of drowning. Following sequential screening of records based on our predetermined eligibility criteria, we assessed scientific evidence and risk of bias by use of the SPICOT framework. A total of 17 studies reporting diatom concentrations in victims of drowning, in non-drowned controls, and in non-drowned immersed controls were eligible for this review. Our findings suggest that diatom testing may be of use in medico-legal investigations, although its evidentiary value remains uncertain because both quantitative and qualitative results from the literature are insufficiently comparable. Variations in study design, methodology and reporting approach also fail to provide a comprehensive understanding of the significance of false-positive and false-negative results. Further research is warranted on antemortem and PM contamination, and on standardized autopsy and laboratory procedures, as well as on automated and certified diatom-counting and -identification systems. Moreover, since diatom taxonomy lies outside the specialty of forensic medicine, we underscore that collaboration with expert diatomologists is necessary for analysis and interpretation. Until these issues are adequately addressed, the evidentiary value of diatom testing for the diagnosis of drowning will continue to remain elusive and contentious.

In July 2023, an in-house forensic neuropathology consultation pilot was established at the Helsinki office of the Forensic Medicine Unit, Finnish Institute for Health and Welfare. This offered an alternative to the previous practice of full outsourcing to a hospital neuropathology department. This paper aims to introduce the first year experiences of the pilot. The in-house consultant team comprised two forensic pathologists with special training in neuropathology. In-house consultations were offered for medico-legal autopsy cases with traumatic brain injury (TBI) and hypoxic-ischaemic encephalopathy. The in-house histology laboratory participated in the pilot, implementing beta-amyloid precursor protein (β-APP) stain at the end of the pilot year. An electronic database was also developed for data collection and reporting. The characteristics, costs, and duration of the first 25 consultation cases were reviewed. The cases involved mostly male decedents (84.0%) with TBI (84.0%). The median total cost of a pilot case was €624, which was substantially lower compared to the previous outsourced practice (€1013 per case + €38/84 for each microscope slide with special/immunohistochemical stain, respectively). After the implementation of β-APP stain into the in-house laboratory service, the median total cost of a pilot case was reduced further to €94. The median duration of an in-house consultation was 2.3 months. Thanks to a favourable in-house atmosphere, the first year experiences are encouraging. While the costs of the in-house consultation practice appear to be markedly lower than those of an external provider, both alternatives should be available for cases where sufficient expertise cannot be found in-house.

The ForenSeq™ DNA Signature Prep kit has not been thoroughly tested with crude buccal swab lysates in large-scale population studies using massively parallel sequencing (MPS). Commonly used lysis buffers for swabs intending to undergo direct polymerase chain reaction (PCR) are SwabSolution™ and STR GO! Lysis Buffers, and these have been successfully used to generate population data using capillary electrophoresis (CE) systems. In this study, we investigated the performance and optimisation of SwabSolution™ and STR GO! lysates with the ForenSeq™ DNA Signature Prep workflow and addressed the challenge of failed MPS profiles in initial trials. To mitigate PCR inhibition in SwabSolution™ lysates, three optimisation methods were evaluated: dilution of lysates, addition of 5X AmpSolution^® reagent, and purification with magnetic beads. For STR GO! lysates, we explored spin-column purification using the QIAamp^® DNA Investigator kit, magnetic bead purification, and a pH adjustment with 1 M hydrochloric acid. Our findings indicated that the addition of 5X AmpSolution^® was effective for overcoming PCR inhibition in SwabSolution™ lysates, thereby maintaining a direct PCR approach. Spin-column purification, however, is recommended for STR GO! lysates to minimise MPS profile failure rates. These improvements enhance first-time success rates of crude swab lysates, and reduce the need for repeat sampling and re-sequencing, making the workflow more suitable for large-scale population studies in forensic laboratories.

The burnout phenomenon is a subject of considerable interest due to its impact on both employee well-being and scientific inquiry. Workplace factors, both intrinsic and extrinsic, play a pivotal role in its development, often leading to job dissatisfaction and heightened burnout risk. Chronic stress and burnout induce significant dysregulation in the autonomic nervous system and hormonal pathways, alongside structural brain changes. This paper presents a preliminary review of the literature on burnout syndrome among forensic science workers, focusing on the prevalence of this phenomenon and its triggers. This review aims to consolidate existing research on burnout among forensic medicine workers, highlight significant findings, and encourage further studies. Symptoms range from demoralization to somatic complaints. The Maslach Burnout Inventory (MBI) was the main tool in assessing burnout levels alongside measures of occupational stress, vicarious trauma and posttraumatic stress syndrome. Forensic medicine workers face unique stressors, with notable impacts on burnout levels. These workers experience challenges such as workplace conflicts and exposure to traumatic cases, leading to moderate or high burnout levels, particularly, emotional exhaustion, depersonalization or low personal accomplishment. Despite the prevalence of burnout, many forensic medicine workers lack access to support networks and perceive a disregard for their well-being from supervisors. There is a pressing need for further research to understand the biological mechanisms, susceptibility factors, and discover diagnostic markers of burnout syndrome, with the goal of its recognition as a psychiatric disorder in diagnostic manuals like the Diagnostic and Statistical Manual of Mental Disorders.

The so-called "shedder status", which can more precisely be referred to as "individual shedding propensity" (ISP), has been the subject of forensic genetic research for more than two decades. Numerous studies have been published on this topic many of which report contradictory and/or insufficiently documented results regarding the existence, influencing factors, classifications of and test methodologies for the ISP of skin material. To date, there is no scientific consensus on the best way to register and conceptualize this variable, that is essential for the assessment of DNA transfer events. Here, we present the results of a systematic review and meta-analysis to give an account of the current state of research on the ISP (including data up to end of December 2023). To this end, 50 publications on the topic of "shedder status" were systematically surveyed and the combined data was statistically analysed regarding the comprehensibility and test methodology for determining the ISP as well as key influencing factors (including sex and age) and classifications. Despite difficulties in the analysis due to missing or incomplete information in individual publications, the following insights and recommendations are established, also considering current dermatological and histological research: the tendency to shed (mostly) skin material upon physical contact with surfaces is a genuine and meaningfully ascertainable, person-specific i.e. individual variable, which is apparently influenced by male sex and young age. In contrast, time since handwashing and the choice of hand do not appear to have any relevant influence. When testing an individual's tendency to deposit DNA containing material, it is preferable to set a standardised contact time and use plastic tubes as the contact surface or perform direct skin abrasion. The body region from which the sample is taken also appears to be relevant. Overall, however, the results confirm the difficulty to compare and interpret the results from many available studies, and we advocate to harmonise and standardise study designs and experiments and to apply a quality control before publishing such data.

Inferring the ancestral origin of DNA evidence recovered from crime scenes is crucial in forensic investigations, especially in the absence of a direct suspect match. Ancestry informative markers (AIMs) have been widely researched and commercially developed into panels targeting multiple continental regions. However, existing forensic ancestry inference panels typically group East Asian individuals into a homogenous category without further differentiation. In this study, we screened Y chromosomal short tandem repeat (Y-STR) haplotypes from 10,154 Asian individuals to explore their genetic structure and generate an ancestry inference tool through a machine learning (ML) approach. Our research identified distinct genetic separations between East Asians and their neighboring Southwest Asians, with tendencies of northern and southern differentiation observed within East Asian populations. All machine learning models developed in this study demonstrated high accuracy, with the Asian classification model achieving an optimal performance of 82.92% and the East Asian classification model reaching 84.98% accuracy. This work not only deepens the understanding of genetic substructures within Asian populations but also showcases the potential of ML in forensic ancestry inference using extensive Y-STR data. By employing computational methods to analyze intricate genetic datasets, we can enhance the resolution of ancestry in forensic contexts involving Asian populations.

The 20 established STRs that make up the CoDIS package must comply with national and international privacy rights and legal policies. Current research reveals that it is possible that certain genetic markers, used in forensic contexts, may show information about other neighboring markers that could reflect certain private characteristics of individuals. Therefore, we will aim to find out, through a literature review, whether there may indeed be associations between some of the STRs alleles established by CoDIS and medical and phenotypic conditions, with the aim of checking whether this problem has a real basis. To carry out this review, a systematic search has been carried out in different databases, as well as a critical evaluation of the articles collected and a synthesis of all the relevant studies. The results generally show that private phenotypic data of the individual can be known from certain STRs established by CoDIS, due to their association with neighboring genes. However, most of the papers state that practically none of the established associations offer proof of causality, but rather a relationship between some STRs and a phenotype.

Genetic markers of the Y chromosome are powerful tools for investigating paternal ancestry and are widely used in population and forensic genetics. However, in order to obtain statistics with a higher degree of certainty using these markers, it is necessary to obtain haplotypic frequencies from a representative database, as well as knowing the diversity and structure of the population. The aim of this study was to investigate the genetic diversity of a sample of 1114 unrelated men from three states in the Northeast of Brazil: Paraíba, Pernambuco and Ceará, through the analysis of 23 Y-STRs and to contribute to the expansion of the Brazilian database on these markers. The PPY23 panel had a high discriminatory power, and the population structure was consistent with the historical aspects of the colonization of the Northeast of Brazil. Population comparisons based on paired genetic differentiation values (Fst) revealed no statistically significant differences between the three populations in this study. However, it was observed that Pernambuco and Paraíba were genetically closer to states outside the Northeast region. Y-STR-based haplogroup prediction, carried out using the NevGen software, revealed that the paternal lineage of the populations in this study is essentially European, with little African or Native American influence, just like the rest of the Brazilian population. Additionally, this work contributes to a more representative database for use in forensic and population genetics.