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In recent years, molecular biology-based diagnostic techniques have made remarkable strides and are now extensively utilized in clinical practice, providing invaluable insights for disease diagnosis and treatment. However, forensic medicine, especially forensic pathology, has witnessed relatively limited progress in the application of molecular biology technologies. A significant challenge in employing molecular techniques for forensic diagnoses lies in the quantitative and qualitative changes observed in diagnostic markers due to sample degradation-a recognized and formidable obstacle. Inspired by the success of DNA sequencing in forensic practices, which enables accurate individual identification even in cases involving degraded and deteriorated tissues and organs, we propose the application of the assay for transposase-accessible chromatin with sequencing (ATAC-seq) to identify targets at the transcriptional onset, exploring chromatin and DNA-level alterations for injury and disease inference in forensic samples. This study employs ATAC-seq to explore alterations in chromatin accessibility post-injury and their subsequent changes over a 2-h degradation period, employing traumatic brain injury (TBI) as a representative model. Our findings reveal high sensitivity of chromatin accessibility sites to injury, evidenced by shifts in thousands of peak positions post-TBI. Remarkably, these alterations remain largely unaffected by early degradation. Our results robustly endorse the notion that integrating and incorporating these specific loci for injury and disease diagnosis in forensic samples holds tremendous promise for practical application. We further validated the above results using human cortical tissue, which supported that early degradation did not significantly affect chromatin accessibility. This pioneering advancement in molecular diagnostic techniques may revolutionize the field of forensic science, especially forensic pathology. [ABSTRACT FROM AUTHOR]

In recent years, new studies based on artificial intelligence (AI) have been conducted in the forensic field, posing new challenges and demonstrating the advantages and disadvantages of using AI methodologies to solve forensic well-known problems. Specifically, AI technology has tried to overcome the human subjective bias limitations of the traditional approach of the forensic sciences, which include sex prediction and age estimation from morphometric measurements in forensic anthropology or evaluating the third molar stage of development in forensic odontology. Likewise, AI has been studied as an assisting tool in forensic pathology for a quick and easy identification of the taxonomy of diatoms. The present systematic review follows the PRISMA 2020 statements and aims to explore an emerging topic that has been poorly analyzed in the forensic literature. Benefits, limitations, and forensic implications concerning AI are therefore highlighted, by providing an extensive critical review of its current applications on forensic sciences as well as its future directions. Results are divided into 5 subsections which included forensic anthropology, forensic odontology, forensic pathology, forensic genetics, and other forensic branches. The discussion offers a useful instrument to investigate the potential benefits of AI in the forensic fields as well as to point out the existing open questions and issues concerning its application on real-life scenarios. Procedural notes and technical aspects are also provided to the readers. [ABSTRACT FROM AUTHOR]

Determining postmortem interval (PMI) is one of the most challenging and essential endeavors in forensic science. Developments in PMI estimation can take advantage of machine learning techniques. Currently, applying an algorithm to obtain information on multiple organs and conducting joint analysis to accurately estimate PMI are still in the early stages. This study aimed to establish a multi-organ stacking model that estimates PMI by analyzing differential compounds of four organs in rats. In a total of 140 rats, skeletal muscle, liver, lung, and kidney tissue samples were collected at each time point after death. Ultra-performance liquid chromatography coupled with high-resolution mass spectrometry was used to determine the compound profiles of the samples. The original data were preprocessed using multivariate statistical analysis to determine discriminant compounds. In addition, three interrelated and increasingly complex patterns (single organ optimal model, single organ stacking model, multi-organ stacking model) were established to estimate PMI. The accuracy and generalized area under the receiver operating characteristic curve of the multi-organ stacking model were the highest at 93% and 0.96, respectively. Only 1 of the 14 external validation samples was misclassified by the multi-organ stacking model. The results demonstrate that the application of the multi-organ combination to the stacking algorithm is a potential forensic tool for the accurate estimation of PMI. [ABSTRACT FROM AUTHOR]

Evaluating evidence and providing opinions are at the heart of forensic science, and forensic experts are expected to provide opinions that are based on logically sound and transparent scientific reasoning, and that honour the boundaries of their area of expertise. In order to meet these objectives, many fields of science explicitly apply Bayes' theorem, which describes the logically correct way to update probabilities on the basis of observations. Making a distinction between 'investigative' and evaluative' modes of operating helps to implement the theorem into daily casework. Use of these principles promotes the logic and transparency of the reasoning that leads to expert's opinion and helps the expert to stay within her remit. Despite these important benefits, forensic pathology seems slow to adopt these principles. In this article, we explore this issue and suggest a way forward. We start with a short introduction to Bayes' theorem and its benefits, followed by a discussion of why its application is actually second nature to medical practitioners. We then discuss the difference between investigative and evaluative opinions, and how they enable the forensic pathologist to reconcile Bayes' theorem with the different phases of a forensic investigation. Throughout the text, practical examples illustrate the various ways in which the logically correct way of evidence interpretation can be implemented, and how it may help the forensic pathologist to provide an appropriate and relevant opinion. [ABSTRACT FROM AUTHOR]

Further to a previous publication by the European Council of Legal Medicine (ECLM) concerning on-site forensic and medico-legal scene and corpse investigation, this publication provides guidance for forensic medical specialists, pathologists and, where present, coroners' activity at a scene of death inspection and to harmonize the procedures for a correct search, detection, collection, sampling and storage of all elements which may be useful as evidence, and ensure documentation of all these steps. This ECLM's inspection form provides a checklist to be used on-site for the investigation of a corpse present at a crime or suspicious death scene. It permits the collection of all relevant data not only for the pathologist, but also for forensic anthropologists, odontologists, geneticists, entomologists and toxicologists, thus supporting a collaborative work approach. Detailed instructions for the completion of forms are provided. [ABSTRACT FROM AUTHOR]

Immersion pulmonary edema is a rare, underrecognized, and potentially lethal pathology developing during scuba diving and other immersion-related activities (swimming or apnoea). Physiopathology is complex and not fully understood, but its mechanisms involve an alteration of the alveolo-capillary barrier caused by transcapillary pressure elevation during immersion, leading to an accumulation of fluid and blood in the alveolar space. Diagnosis remains a challenge for clinicians and forensic practionner. The symptoms begin during ascent, with cough, frothy sputum, and hemoptysis. Auscultation reveals signs of pulmonary edema. Pulmonary CT scan, which is the radiological exam of choice, shows ground glass opacities and interlobular thickening, eventually demonstrating a patterned distribution, likely in the anterior segments of both lungs. Apart from the support of vital functions, there is no specific treatment and hyperbaric oxygen therapy is not systematically recommended. We present a case of fatal IPE occurring in a recreational diver who unfortunately died shortly after his last dive. Diagnosis was made after complete forensic investigations including post-mortem-computed tomography, complete forensic autopsy, histological examination, and toxicological analysis. [ABSTRACT FROM AUTHOR]

A biobank is a collection of biological material associated with health database. The field of biobanking has significantly developed over the past 30 years. Research based on biobank material gives access to data of a large number of people and can often significantly accelerate the understanding of disease and improve the quality of care. In the University Center of Legal Medicine Lausanne-Geneva, samples collected during autopsies are used for forensic investigations. The legal and ethical framework to use these samples for research is often complex and confused, which is unfortunate given the potential of these biospecimens. Indeed, forensic samples are valuable for research because they originate in part from young (including pediatrics cases) and healthy people who are poorly represented in worldwide institutional biobanks. In this context at the beginning of the year 2019, the Forensic Pathology Biobank was created. Creation of a forensic pathology biobank is the best way to standardize local conservation practices and improve personal data management, thus providing a very valuable biological material for scientific projects. Its development gives rise to many questions about technical standards, ethical and legal issues but also many research opportunities. [ABSTRACT FROM AUTHOR]

The diagnosis of drowning is one of the most difficult in forensic medicine. Forensic diatomology has been proposed to be useful in solving the diagnosis of drowning and considered to be a reliable indicator of the site of drowning. The Yangtze River and Jialing River are the main rivers in the Chongqing area (China), and a large number of corpses are found in the rivers every year. However, the distribution of diatoms in the rivers was not fully studied. In the presented study, a Microwave Digestion-Vacuum Filtration-Scanning Electron Microscopy (MD-VF-SEM) method was performed to acquire the qualitative and quantitative data of diatoms of water samples collected from 10 different sites of the Yangtze River and Jialing River in Chongqing section during different seasons. Our study not only created the diatomological maps of water bodies in Chongqing section of the Yangtze River and Jialing River for the first time but also identified some seasonal and site-specific diatoms that can be taken as markers of particular sites or seasons of drowning. The results of our study may provide forensic scientists helpful reference in solving the drowning cases. [ABSTRACT FROM AUTHOR]

Schizophrenia patients have higher mortality rates and lower life expectancy than the general population. However, forensic investigations of their deaths often fail to determine the cause of death, hindering prevention. As schizophrenia is a highly heritable condition and given recent advances in our understanding of the genetics of schizophrenia, it is now possible to investigate how genetic factors may contribute to mortality. We made use of findings from genome-wide association studies (GWAS) to design a targeted panel (PsychPlex) for sequencing of exons of 451 genes near index single nucleotide polymorphisms (SNPs) identified with GWAS. We sequenced the DNA of 95 deceased schizophrenia patients included in SURVIVE, a prospective, autopsy-based study of mentally ill persons in Denmark. We compared the allele frequencies of 1039 SNPs in these cases with the frequencies of 2000 Danes without psychiatric diseases and calculated their deleteriousness (CADD) scores. For 81 SNPs highly associated with schizophrenia and CADD scores above 15, expression profiles in the Genotype-Tissue Expression (GTEx) Project indicated that these variants were in exons, whose expressions are increased in several types of brain tissues, particularly in the cerebellum. Molecular pathway analysis indicated the involvement of 163 different pathways. As for rare SNP variants, most variants were scored as either benign or likely benign with an average of 17 variants of unknown significance per individual and no pathogenic variant. Our results highlight the potential of DNA sequencing of an exon panel to discover genetic factors that may be involved in the development of schizophrenia. [ABSTRACT FROM AUTHOR]

The aim of this study is to assess the added value of post-mortem computed tomography (PMCT) in fatal shooting incidents compared with autopsy findings. For this study, the analysis was restricted to the following four features: location of the entrance and exit wounds, internal injuries, location of projectiles or metal fragments and course of the trajectories. These features were selected because they provide essential information on the cause and manner of death. All data were retrospectively collected from medical forensic examinations of fatal shooting incidents in the Netherlands that occurred in 2010–2014. Twenty-one fatal shooting victims were included in this study, with a total of 100 trajectories. For all 100 trajectories, the forensic radiologist and pathologist came to a consensus on which examination had the highest diagnostic value for each of the four features. PMCT provides superior information on the presence of metal fragments, internal injuries and the course of trajectories. PMCT provides limited information on the discrimination of entrance and exit wounds. In conclusion, PMCT provides additional relevant information in over 60% of forensic medical examinations of deceased victims of shooting incidents. We therefore recommend adding PMCT as a standard examination in these cases. [ABSTRACT FROM AUTHOR]

Diatom test has been a significant tool for the diagnosis of drowning. The reliability of the diatom test is still in strong dispute in the field of forensic science because of the false-positive results. This study was designed to quantitatively compare the numbers of the diatoms in false-positive cases and true drowning cases. Diatom samples from 64 victims were used in this study: 32 cases are confirmed drowning victims and other 32 cases died from non-drowned death. Samples were subject for the diatom test those were analyzed by the microwave digestion-vacuum filtration-automated scanning electron microscopy method (MD-VF-Auto SEM method) that we developed before. The results did show that there are false-positive diatoms detected in the liver and kidney tissues of non-drowned bodies: 6/20 in liver tissues and 7/20 in kidney tissues. However, the quantitative studies showed that there are statistical differences with the numbers of diatoms in the false-positive cases and in the true drowning cases. Diatom test of single organ is difficult for us to distinguish the sources of the diatoms detected. Therefore, comprehensive analysis of multiple organs would be more useful for the diagnosis of drowning. [ABSTRACT FROM AUTHOR]

Introduction: Despite the constantly growing popularity of radiological imaging in forensic pathology, a systematic review investigating the efficiency and limits of radiological techniques, in comparison to forensic autopsy, was still missing. Aim: The present review aims at providing an overview on the current role of radiology in the forensic investigation of fatal gunshot wounds without any restriction to specific radiological techniques. Material and methods: A systematic literature search on three databases (PubMed, Web of Science, and Science Direct) was performed until December 2017. The Oxford Centre for Evidence Based Medicine (OCEBM) grading system for levels of evidence was applied, in order to weigh published evidence. Results and discussion: Eighty-six papers (1.64% of the records) were included. Despite the quite limited general level of evidence, which contrasts with the abundance of the scientific literature on this topic, several recommendations/statements, coupled to their OCEBM grade, were distilled as for the identification of retained bullets, gunshot wounds detection, diagnosis of entrance and exit wounds, trajectories and internal injury detection and estimation of the firing distance. Conclusions: Imaging radiological technologies represent the present and future of wound ballistics. However, traditional, micro and molecular imaging techniques require further validation through blinded cross-sectional studies with appropriate reference standards (e.g. forensic autopsy). [ABSTRACT FROM AUTHOR]

Human and non-human identification of unknown skeletal remains is of great importance in forensic and anthropologic contexts. However, the traditional morphological methods for bone species identification are subjective or time-consuming. Here, we utilized Fourier transform infrared (FTIR) spectroscopy and chemometric methods to determinate the spectral variances between human and non-human (i.e., pig, goat, and cow) bones. To simulate real forensic situations as much as possible, fresh, boiled, and decomposed bones were included in this study. Principal component analysis (PCA) results illustrated pig bones were more sensitive to the environmental and external factors than other species studied in this work. Thus, pig bone might not be a suitable proxy for human bone in the study of postmortem changes. More importantly, score plots of PCA results showed clear separation with a slight overlap between the human and non-human fresh bones, but it failed to distinguish the boiled and decomposed bones. Then, partial least squares discriminant analysis (PLS-DA) was employed, and both internal and external validations were conducted to assess its classification ability, which resulted in 99.72 and 99.53% accuracy, respectively. According to the loading plots of PCA and PLS-DA, the spectral diversity was mainly due to the inorganic portion (i.e., carbonates and phosphates), which can remain relatively stable under various conditions. As such, our results illustrate that FTIR spectroscopy could serve as a reliable tool to assist in bone species determination and also has great potential in real forensic cases with natural conditions. [ABSTRACT FROM AUTHOR]

Although many clinical trials have demonstrated its efficacy during active compression-decompression cardiopulmonary resuscitation (ACD-CPR), the Ambu® CardioPump seems likely to cause severe and sometimes lethal injuries. In this paper, we report two cases observed at the Institute of Legal Medicine of Nancy, France. A 67-year-old man collapsed in the street, in the presence of witnesses, and without any sign of trauma. The autopsy revealed a flail chest, a wound of the left ventricle, a rupture of the right ventricle, and a wrenching of the inferior vena cava. A 71-year-old woman was found in her apartment during an accidental fire. The autopsy revealed a sternal fracture, many rib fractures, and a perforation of the superior vena cava, the pericardium, and the heart. Despite articles focusing on complications of the use of the CardioPump in the late 1990s, this technique is still used in practice. These two cases emphasize that iatrogenic injuries must be taken into account in the CardioPump benefit/risk balance and the relevance of its daily use. [ABSTRACT FROM AUTHOR]

The diatom test is considered a useful aid in determining the site of death from drowning. Nevertheless, there is disagreement within the scientific community concerning its reliability, and its findings have been challenged and sometimes overturned in courts of law. Using a model based on animal experimentation, we have developed a diatom test to discriminate between the locations of drowning sites from different aquatic systems. We carried out a complementary combination of quantitative and qualitative analyses together with a statistical analysis based on the Kullback-Leibler distance of the samples. A restrictive selection of exclusive diatom species from each reservoir was also made. This approach allowed us to validate the usefulness of the diatom test in determining the location of the site of drowning. [ABSTRACT FROM AUTHOR]

A sample of 158 Brazilian males from São Paulo (SP), Brazilian southeast, was typed for 17 Y-STR loci (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635, YGATA_H4.1, and DYS385ab). A total of 158 haplotypes were identified, of which all were unique. The haplotype diversity and discrimination capacity were calculated in 1.0 and the genetic diversity was 67.4%. Pairwise haplotype distances showed that the São Paulo population is not significantly different from Rio de Janeiro and Portugal, but is different from African and Native American. [ABSTRACT FROM AUTHOR]

A block of an injury instrument will be left in wounds sometimes, and the suspect instrument can be discriminated by comparison with the block that was left through elemental analysis. In this study, three brands (Shibazi, Zhangxiaoquan, Qiaoxifu) of kitchen knives with forged, chop, and slice application series were analyzed by inductively coupled plasma atomic emission spectroscopy (ICP-AES) and Infrared Absorption to investigate the type, number of elements and the reference range used for comparing. The results show that when regarding one or more element as the discriminative threshold, together with 5 % relative standard deviation (RSD) as the reference range, all the samples could be distinguished among different series. Furthermore, within the same series, the discriminative capability could reach up to 88.57 % for all samples. In addition, elements with high content, such as Cr, Mn, and C, were useful to discriminate among different series, and trace elements, such as Ni, Si, and Cu, were useful within the same series. However, in practice, it is necessary to evaluate the accuracy of the method by Standard Reference Material (SRM) before an examination is performed. [ABSTRACT FROM AUTHOR]

In the forensic assessment of burned bodies, the question of whether the victim was exposed to the fire before or after death is of crucial importance. Several external signs have been used in the past to indicate heat exposure prior to the death of the victim but these did not include tongue protrusion. The internal signs of heat exposure are generally regarded as much more important than those observed externally. No one factor has been found to be totally reliable. This study found a statistically significant dependence between tongue protrusion and presence of soot in the respiratory tract and stomach, the latter being a good indicator of vital burning. The results of this study confirm that tongue protrusion can be used as an additional indicator of vital burning. [ABSTRACT FROM AUTHOR]

The aim of this investigation was to identify pathogenic variants of the ryanodine receptor 2 ( RYR2) gene in a cohort of persons aged 0-40 years who died of sudden unexpected death syndrome (SUD), including a cohort of infants who died of sudden infant death syndrome (SIDS). We genetically screened 29 of the 105 exons of the RYR2 gene associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) in 74 cases of SUD without reported structural abnormalities of the heart. Cases were selected from the case database at the Institute of Forensic Medicine, and subsequent mutational screening by DNA sequencing was performed to detect variants in DNA samples extracted from blood samples of deceased persons. A total of 7 of the examined 74 cases were heterozygous for a rare sequence variant in the RYR2 gene. We identified five novel missense variants (p.Q486H, p.D1872N, p.G2367R, p.E4213D, and p.H4579Y), one synonymous variant (p.L4767L), and one previously reported missense variant (p.G4315E). Follow-up studies were possible in family members of three probands (p.Q486H, p.D1872N, and p.H4579Y), and clinical examinations were conducted in family members of two of these probands (p.Q486H and p.H4579Y). In conclusion, we identified a higher prevalence of variants in the CPVT-associated gene RYR2 than in a previously reported cohort of SIDS (9.4% vs. 1-2%). Segregation studies show that one variant (p.H4579Y) co-segregates with CPVT and is presumed to be pathogenic. [ABSTRACT FROM AUTHOR]

In cases of suspected neonaticide, the results of a forensic autopsy might be important for conviction or acquittal. But autopsy findings in dead newborns are often unspecific and can rarely provide corroborative evidence of inflicted injury, as they are known to occur during normal birth as well. In our study, we examined 59 vaginally delivered, healthy newborns within the first 30 min after birth to know more about the prevalence and possible correlations of a caput succedaneum and facial petechiae. Caput succedaneum occurred in 33.9%, facial petechiae in 20.3%. As for the occurrence of caput succedaneum, statistically significant differences could be shown for the duration of delivery and the mother's parity. These correlations could not be shown for the occurrence of facial petechiae. Within the scope of our study, we could demonstrate that neither caput succedaneum nor facial petechiae are rare findings in healthy newborns. In the forensic investigation of suspected neonaticide, their potential significance can only be ascertained together with further investigations of the circumstances of death and a thorough forensic pathological autopsy. [ABSTRACT FROM AUTHOR]

In literature, many studies have been performed in order to investigate the presence of GSR ('gunshot residue') and metallic residues in general with radiological techniques on several types of material, but the survival of metallic residues on charred samples has never been systematically performed. In this study, 31 adult bovine ribs underwent a shooting test. Every rib was shot with a single bullet, at a near-contact shooting distance, using two kinds of projectile: 17 samples were shot with a full metal-jacketed bullet and the remaining 14 with an unjacketed bullet. After the shooting test, every rib underwent a 'charring cycle' in an electric oven up to 800°C. Every sample underwent radiological investigation with conventional radiography, before and after the burning process, to evaluate any changes in number and distribution of metallic residues. Radiographs showed survival of radiopaque residues in every sample, even after the charring process, especially when the bullet used was of the unjacketed type. [ABSTRACT FROM AUTHOR]

Abstract??Based on only one objective and several subjective signs, the forensic classification of strangulation incidents concerning their life-threatening quality can be problematic. Reflecting that it is almost impossible to detect internal injuries of the neck with the standard forensic external examination, we examined 14 persons who have survived manual and ligature strangulation or forearm choke holds using MRI technique (1.5-T scanner). Two clinical radiologists evaluated the neck findings independently. The danger to life was evaluated based on the ?classical? external findings alone and in addition to the radiological data. We observed hemorrhaging in the subcutaneous fatty tissue of the neck in ten cases. Other frequent findings were hemorrhages of the neck and larynx muscles, the lymph nodes, the pharynx, and larynx soft tissues. Based on the classical forensic strangulation findings with MRI, eight of the cases were declared as life-endangering incidents, four of them without the presence of petechial hemorrhage but with further signs of impaired brain function due to hypoxia. The accuracy of future forensic classification of the danger to life will probably be increased when it is based not only on one objective and several subjective signs but also on the evidence of inner neck injuries. However, further prospective studies including larger cohorts are necessary to clarify the value of the inner neck injuries in the forensic classification of surviving strangulation victims. [ABSTRACT FROM AUTHOR]