Search Results (215)

Forensic biochemistry has often relied on the vitreous humor as a matrix for toxicological investigations due to its stability and isolation from post-mortem redistribution processes. Recently, the scope of research has expanded to explore the vitreous humor as a medium reflecting systemic and pathological changes, particularly in its protein composition. This study delves into the detection and quantification of cardiac damage markers such as CK-MB and myoglobin in vitreous humor samples from 45 autopsy cases. For the first time, it demonstrates a statistically significant correlation between these markers and the perimortem agony interval (PAI), defined as the survival time before death. This discovery paves the way for innovative forensic applications, including the estimation of the PAI, a critical parameter for judicial and compensatory assessments. The findings underscore the potential of the vitreous humor as a diagnostic medium, opening new avenues for understanding the systemic dynamics of cardiac markers and the role of the blood–retinal barrier in post-mortem scenarios. Full article

Road accidents are one of the leading causes of death worldwide, with significant repercussions on public health and the global economy. Fatal accidents can cause injuries in various anatomical areas with different dynamics. The thorax is one of the main sites involved in fatal accidents, due to the presence of vital organs such as the heart and lungs. Protective devices, such as seatbelts and airbags, also play a fundamental role in preventing chest injuries. However, external examination is often insufficient to determine the extent of internal trauma, resulting in significant difficulties in reconstructing the accident dynamics. In particular, in the absence of an autopsy, it is difficult to determine whether the driver or passengers were wearing protective devices, such as seatbelts, at the time of the accident. Diagnosing injuries secondary to protective devices, such as airbags, can also be complex without this assessment. Through a review of the literature, this work analyzes the different types of thoracic trauma that can be found at autopsy, providing indications to the forensic pathologist for the examination of these injuries. This review highlights the importance of the autopsy examination as a gold-standard investigation in the analysis of thoracic trauma from road accidents, in order to evaluate with certainty the injuries that caused death, and to facilitate the reconstruction of the dynamics for judicial purposes. Finally, an analysis of postmortem radiological investigations and of the role of protective measures in these events, such as the seatbelt and airbag, is provided. Full article

The term “overkilling” in forensic medicine is not clearly defined and is used to refer to homicides involving unusually massive injuries, far exceeding those necessary to kill the victim. This is the clinical case of a dog found in February 2023 in a town near Naples, with a rope around its neck and the metacarpal region of its forelimbs. The dog was taken to the Istituto Zooprofilattico Sperimentale del Mezzogiorno (IZSM, Portici, Southern Italy), where it underwent a total body radiographic study performed using the “Philosophy HF400” X-ray device (Pan Vet, Kildare Town, Ireland). Subsequently, a full autopsy was performed, and samples of the injured organs were analyzed by accredited in-house laboratories for microbiological, histological and toxicological analyses. The autopsy revealed anatomopathological lesions compatible with strangulation, which were confirmed by histological examination. The autopsy also reported serosanguineous chest effusion, food material mixed with blackish microgranules and harmful substances in the stomach and, finally, uncoagulated blood in the atrioventricular chambers of the heart. These findings raised the suspicion of poisoning, which was confirmed by the positive outcome of toxicological tests. Full article

Molecular autopsy is a term employed to describe the investigation of the cause of death through the analysis of genetic information using biological samples collected post-mortem. Its utility becomes evident in situations where conventional medico-legal autopsy methods are not able to identify the cause of death, i.e., in sudden cardiac death (SCD) cases in young individuals, where deaths are commonly due to genetic cardiac conditions, such as cardiomyopathies and channelopathies. The recent advancement in high-throughput sequencing techniques, such as next-generation sequencing (NGS), has allowed the investigation of a high number of genomic regions in a more cost-effective and faster approach. Unlike traditional sequencing methods, which can only sequence one DNA fragment at a time, NGS can sequence millions of short polynucleotide fragments simultaneously. This parallel approach reduces both the time and cost required to generate large-scale genomic data, making it a useful tool for applications ranging from basic research to molecular autopsy. In the forensic context, by enabling the examination of multiple genes or entire exomes and genomes, NGS enhances the accuracy and depth of genetic investigations, contributing to a better understanding of complex inherited diseases. However, challenges remain, such as the interpretation of variants of unknown significance (VUS), the need for standardized protocols, and the high demand for specialized bioinformatics expertise. Despite these challenges, NGS continues to offer significant promise for enhancing the precision of molecular autopsies. The goal of this review is to assess the effectiveness of contemporary advancements in molecular autopsy methodologies when applied to cases of SCD in young individuals and to present an overview of the steps involved in the analysis of NGS data and the interpretation of genetic variants. Full article

Background: Hospital autopsies, once considered fundamental to evidence-based medicine, have declined in many Western countries due to legislative changes, faith-based objections, and inadequate funding in public healthcare. However, the COVID-19 pandemic has revitalized interest in their importance for determining the cause of death and generating public health statistics. This study analyzes the factors contributing to this decline, with a focus on the Italian context and the new medicolegal perspectives arising in the post-pandemic era. Methods: The research was conducted through an analysis of 91 relevant scientific sources, including government documents, policy briefs, and academic studies. Legislative and regulatory factors influencing the reduction in hospital autopsies were examined, along with new technological and medicolegal perspectives that have emerged following the COVID-19 pandemic. Special attention was given to the Italian context and the pandemic’s impact on autopsy practices. Results: The analysis revealed that the perceived “low value” of autopsies often stems from technological advancements, which have led to the view of these procedures as redundant. However, in the post-COVID-19 era, there has been a renewed awareness of the medicolegal value of autopsies, with significant implications for public health statistics and the evolution of forensic medicine. Conclusions: The COVID-19 pandemic highlighted the vital role of autopsies in delivering accurate medical information, prompting renewed attention to these procedures in the post-pandemic era. Moving forward, hospital autopsies will need to balance technological innovations with traditional medicolegal practices, paving the way for new perspectives in forensic medicine and public health data management. Full article

Road traffic accidents (RTAs) are a leading cause of morbidity and mortality worldwide, frequently resulting in traumatic brain injuries (TBIs), skull fractures, and spinal injuries. This manuscript examines the forensic aspects of head trauma caused by RTAs, focusing on the role of autopsy and imaging in diagnosing and characterizing injuries. Through a systematic review of the literature, the study highlights the mechanisms of injury, including high-speed collisions, whiplash, and pedestrian impacts, and explores their pathological consequences, such as subarachnoid hemorrhage, intracranial hemorrhage, and diffuse axonal injury. The differentiation between traumatic and non-traumatic conditions, such as aneurysmal subarachnoid hemorrhage, is emphasized to ensure accurate clinical and forensic assessments. Advances in imaging technologies, particularly virtopsy, are discussed for their potential in non-invasive documentation and analysis of head injuries, while limitations of this approach are acknowledged. Furthermore, the manuscript underscores the importance of preventive measures, including helmet and seatbelt use, vehicle safety innovations, and improved road design, in reducing the incidence and severity of RTAs. By integrating clinical, forensic, and preventive perspectives, this study provides a comprehensive framework for understanding and addressing the burden of head trauma related to RTAs. Full article

Suicide in Italy represents a serious public health problem, with significant data highlighting the urgency for prevention interventions. According to the epidemiological data, in the two-year period 2020–2021, 7422 suicides were recorded, representing an increase compared to previous years. Suicide is the most extreme self-harm. The contributing factors that surround this event are multiple, typically in conditions of serious distress or psychological distress, in particular in people suffering from serious psychiatric and/or mental disorders, such as depression. The role of the forensic pathologist in the context of suicide is crucial for ascertaining the contributing factors of death and for understanding the circumstances that lead to the suicidal act. Forensic medicine plays a crucial role in the analysis and understanding of suicides, addressing both the legal and medical implications. The aim of this study was to accurately describe the phenomenon of suicide in Italy. The accuracy of the review was very important in paying attention to the large difference in how the phenomenon manifests itself in the male population compared to the female population. The different ages at which suicide is committed were highlighted. The geographical difference between the North and the South and between the more urbanized areas compared to the rural areas where suicide is committed was analyzed. This scientific work also aimed to explore how forensic pathologists contribute to the resolution of complex forensic investigations. Psychological autopsy is an investigative method used primarily in cases of violent or questionable death, with the aim of understanding the psychological and social circumstances that led to an individual’s death. This practice is distinct from forensic autopsy, which focuses on the physical analysis of the body to determine the cause of death. The role of forensic pathologists in investigating suicide cases is crucial, as they not only determine the cause of death but also analyze the psychological implications that may have led to the extreme act. The main objective of a forensic pathologist in these cases is to gather and interpret evidence that can help understand the psychological and social context that influenced the decision to commit suicide, identifying any warning signs and underlying motivations and factors that may have contributed to the suicide. This approach provides valuable information for prevention, enhancing the understanding of the psychological mechanisms behind suicide and supporting targeted interventions in the future. The manuscripts also have an explanatory purpose and may have a therapeutic role in helping surviving relatives understand suicide. Knowledge of the messages contained in suicide notes could be useful for suicide prevention programs. Full article

Background: SARS-CoV-2 is classified as a class 3 biological agent; therefore, autopsies on positive subjects must be performed in BSL 3 sectorial rooms. However, many centers lacking such facilities perform molecular nasopharyngeal swabs for SARS-CoV-2 on corpses before autopsy. This approach, though, is marked by prolonged reporting times and extremely high costs. This study aims to compare the results of molecular swabs (RT-PCR) with rapid antigen swabs (RAT) in order to assess if RAT can serve as the sole test for determining corpse positivity or negativity. Methods: Sixty corpses with positive molecular nasopharyngeal swabs for SARS-CoV-2, performed either ante-mortem or post-mortem, were selected. Afterward, they underwent rapid antigen swabs within 0 to 11 days after the last molecular exam. Results: Out of 60 corpses with positive molecular swabs, 52 antigen swabs were positive (86.67%), and 8 were negative (13.33%), indicating a sensitivity of 86.66% and specificity of 100%. Conclusions: Considering the sensitivity and specificity values observed in this study, RAT could be used as the primary investigation on corpses, especially in centers that lack BSL 3 sectorial rooms. Molecular swabs could then serve as a secondary test for subjects negative on RAT. Full article

Background/Objectives: Virtual autopsy (virtopsy) is a new domain of research for interdisciplinary teams of radiologists and forensic specialists. This scoping review aims to underline the current state-of-the-art research using combined imaging modalities. Methods: We searched the PubMed database using the term virtopsy for articles that are available in free full text, indexed in the Medline Database, and published in English. The query returned 49 articles on this subject that have been published since 2002. Results: The main imaging modalities used for postmortem imaging were computed tomography (PMCT), angiography (PMCTA), magnetic resonance imaging (PMMRI), and ultrasonography (PMUS). PMCT is highly effective for detecting complex osseous injuries, tracing bullet trajectories, or identifying characteristic findings in drowning cases. PMCTA is valuable for evaluating vascular lesions, particularly in natural death cases. PMMRI is superior in analyzing soft tissues, including brain and spinal structures, cerebrospinal fluid, microbleeds, and laryngohyoid lesions, and identifying cardiomyopathies in young individuals. PMUS serves as an alternative, and its portability also allows for use in forensic settings. One specific situation observed was the increased number of studies published about virtopsy during the COVID-19 pandemic. Another aspect is the increased focus on this alternative to conventional autopsy in the regions where maneuvering of the deceased is limited according to cultural and social customs. Conclusions: We underline the advantages and limitations of each imaging modality used for virtopsy. Further studies need to be developed in order to gather supplementary data regarding the use of these imaging modalities in the new era of artificial intelligence in medicine. Full article

Background: Dilated cardiomyopathy (DCM) can be an inherited condition related to premature sudden cardiac death (SCD). Pathogenic variants in some genes, like LMNA, SCN5A, FLNC or RBM20, have been linked to an increased risk of SCD. Although genetic study can help to stratify the arrhythmic risk, there are no specific guidelines for RBM20 carriers’ management. We aimed to evaluate the genetic profile and clinical features of all DCM patients with pathogenic variants in RBM20.Methods: We identified all carriers of pathogenic variants in RBM20 in a single national center that specializes in inherited cardiac conditions. Forensic and molecular autopsies provided crucial information. Results: We identified a large family with inherited DCM due to RBM20 p.Arg636Cy and several SCDs. The proband was a 37-year-old male who suffered an unexpected SCD despite presenting a mild DCM phenotype with normal left ventricular ejection fraction. Family screening identified four other carriers, who were asymptomatic, but presented concealed mild DCM phenotypes. Family history revealed that six other relatives (two of them obligate carriers) had also suffered sudden deaths at young ages. Conclusions: We present an informative family with DCM, due to RBM20 p.Arg636Cys, and high rates of SCD, even in members with mild DCM phenotypes. ICD implantation to prevent SCD should be carefully evaluated in all RBM20 p.Arg636Cys carriers. Moreover, the frequent development of AF and HF progression requires specific awareness. Full article

Background/Objectives: Differential diagnosis of sudden cardiac death (SCD) remains challenging, particularly in cases lacking evident structural abnormalities. Cardiac markers have been proposed as useful tools for this differentiation in forensic contexts. However, key issues include the influence of postmortem interval (PMI) on marker stability and the limitations of traditional approaches that focus on pericardial fluid, which requires invasive sampling compared to peripheral blood. This study aimed to evaluate the potential of cardiac markers in peripheral blood for diagnosing SCD, addressing methodological concerns related to PMI, hemolysis, and sample handling. Methods: This study analyzed 5 cardiac markers (creatine kinase-MB [CK-MB], myoglobin, troponin I [TnI], BNP, and D-dimer) in peripheral blood samples from 42 autopsied cadavers, divided into an SCD group and a control group. Marker levels were quantified using immunofluorescence, with cases meticulously selected to exclude confounding factors such as chronic diseases, pulmonary thromboembolism, and drowning. The study also accounted for potential degradation due to PMI, and evaluated the accuracy of point-of-care testing (POCT) in forensic samples. Results: The study identified statistically significant differences in myoglobin and TnI levels between the SCD group and the control group, though myoglobin’s diagnostic reliability remains limited due to its lack of specificity for myocardial injury. TnI emerged as a more robust marker for SCD. Contrary to prior concerns, PMI showed no significant correlation with marker levels in samples handled without freeze–thaw cycles. Issues related to hemolysis were addressed, and no significant effects were observed from resuscitation maneuvers. Conclusions: This study supports the potential use of cardiac markers, particularly TnI, in peripheral blood for postmortem SCD diagnosis, emphasizing the importance of rapid and systematic analysis to minimize hemolysis-related variability. While further validation is needed to confirm these findings, this approach offers a less invasive, economical, and practical method for forensic investigations. Full article

Background: Cause of death analysis is fundamental to forensic pathology. We present the case of a 9½-year-old girl with a genetically confirmed diagnosis of Dravet syndrome who died in her sleep with no evidence of motor seizure. She also had a lifelong history of recurrent pneumonias and, along with her family, had tested positive for COVID-19 10 days before death. Methods: Long-term clinical history of Dravet Syndrome and respiratory infections were obtained from patient’s medical charts and radiology reports. A Rapid-Antigen Test was used to confirm SARS-CoV2 infection days prior to death. At autopsy, brain, heart and lung tissues were obtained. Paraffin-embedded tissues were double-stained with H&E, and immunohistochemically stained using various antibodies. Results: Autopsy revealed evidence of previous seizure activity in the brain and cellular interstitial thickening in the lung. The brain showed edema and fibrillary gliosis without neuronal loss in neocortex and hippocampus. The lung showed inflammatory interstitial thickening with histiocytes, megakaryocytes, B-lymphocytes, and T-lymphocytes, including helper/suppressor cells and cytotoxic T-lymphocytes. Diffuse alveolar damage was observed as alveolar flooding with proteinaceous fluid. Conclusions: The cause of death may be attributed to Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet syndrome, sudden death in viral pneumonia, or some combination of the two. When two independent risk factors for sudden unexpected death are identified due to co-pathology, it may not be possible to determine a single cause of death beyond a reasonable doubt. Full article

Fentanyl is a synthetic opioid widely used for its potent analgesic effects in chronic pain management and intraoperative anesthesia. However, its high potency, low cost, and accessibility have also made it a significant drug of abuse, contributing to the global opioid epidemic. This review aims to provide an in-depth analysis of fentanyl’s medical applications, pharmacokinetics, metabolism, and pharmacogenetics while examining its adverse effects and forensic implications. Special attention is given to its misuse, polydrug interactions, and the challenges in determining the cause of death in fentanyl-related fatalities. Fentanyl misuse has escalated dramatically, driven by its substitution for heroin and its availability through online platforms, including the dark web. Polydrug use, where fentanyl is combined with substances like xylazine, alcohol, benzodiazepines, or cocaine, exacerbates its toxicity and increases the risk of fatal outcomes. Fentanyl undergoes rapid distribution, metabolism by CYP3A4 into inactive metabolites, and renal excretion. Genetic polymorphisms in CYP3A4, OPRM1, and ABCB1 significantly influence individual responses to fentanyl, affecting its efficacy and potential for toxicity. Fentanyl’s side effects include respiratory depression, cardiac arrhythmias, gastrointestinal dysfunction, and neurocognitive impairments. Chronic misuse disrupts brain function, contributes to mental health disorders, and poses risks for younger and older populations alike. Fentanyl-related deaths require comprehensive forensic investigations, including judicial inspections, autopsies, and toxicological analyses. Additionally, the co-administration of xylazine presents distinct challenges for the scientific community. Histological and immunohistochemical studies are essential for understanding organ-specific damage, while pharmacogenetic testing can identify individual susceptibilities. The growing prevalence of fentanyl abuse highlights the need for robust forensic protocols, advanced research into its pharmacogenetic variability, and strategies to mitigate its misuse. International collaboration, public education, and harm reduction measures are critical for addressing the fentanyl crisis effectively. Full article

Background/Objectives: Sudden cardiac death (SCD) constitutes approximately 50% of cardiovascular mortality. Numerous studies have established an interrelation and a strong association between SCD and pulmonary diseases, such as chronic obstructive pulmonary disease (COPD). The aim of this study is to examine the presence of more pronounced cardiopulmonary histopathological changes in individuals who died from SCD compared to the histopathological changes in those who died from violent deaths, in two groups with comparable demographic characteristics, age and sex. Methods: This retrospective case–control study investigated the histopathological changes in cardiac and pulmonary tissues in two cohorts, each comprising 40 cases of SCD and 40 cases of violent death (self-inflicted hanging). Forensic autopsies were conducted at the Maramureș County Forensic Medicine Service, Romania, between 2019 and 2020. Results: The mean ages recorded were 43.88 years (SD 5.49) for the SCD cohort and 41.98 years (SD 8.55) for the control cohort. In the SCD cases, pulmonary parenchyma exhibited inflammatory infiltrate in 57.5% (23), fibrosis in 62.5% (25), blood extravasation in 45% (18), and vascular media thickening in 37.5% (15), compared to the control cohort, where these parameters were extremely low. In myocardial tissue, fibrosis was identified in 47.5% (19) and subendocardial adipose tissue in 22.5% (9) of the control cohort. Conclusions: A close association exists between SCD and the histopathological alterations observed in the pulmonary parenchyma, including inflammation, fibrosis, emphysema, blood extravasation, stasis, intimal lesions, and vascular media thickening in intraparenchymal vessels. Both the histopathological modifications in the pulmonary parenchyma and vessels, as well as those in myocardial tissue, were associated with an increased risk of SCD, ranging from 2.17 times (presence of intimal lesions) to 58.50 times (presence of interstitial and perivascular inflammatory infiltrate in myocardial tissue). Full article

Background: Strangulation by ligature, most frequently employed for homicidal purposes, is not a common suicide method. Even more infrequent is the use by the victim of cable ties as a tool of self-strangulation. Methods: We describe a case of a 50-year-old woman who was found dead with a cable tie tight around her neck. In our case, analysis of the circumstantial data and the psychopathological history of the victim—along with an external examination, an autopsy, and toxicological findings—was crucial in the differential diagnosis between death intentionally inflicted by a third person and suicide. Through a narrative review conducted by performing a literature search using online resources (PubMed, Google Scholar, and ScienceDirect). Results: we were only able to identify eight similar cases. Conclusions: These were compared with our case, to trace similarities and differences, useful in guiding the forensic doctor in the diagnosis of death in such circumstances. Full article