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In forensic genetics, sometimes formalin-fixed paraffin-embedded (FFPE) biopsy material taken during life is the only biological sample available for individual identification or paternity testing. In most cases, this biological tissue is characterized by the presence of tumor cells characterized by instability and loss of heterozygosity of microsatellites (MSI/LOH) compared to the DNA present in cells of normal tissue.In this case report, two FFPE samples from the same male subject were available for genetic investigation: one sample with colorectal cancer tissue and the other with normal tissue (no cancerous histopathological features). The comparison of the genetic profiles obtained from DNA extracted from the two tissues showed in the tumor tissue the presence of three genomic instability phenomena affecting FGA, CSF1P0, D21S2055 loci, located on three distinct autosomal chromosomes, and one duplication phenomenon affecting the DYS438. Therefore, due to the MSI/LOH phenomena, the genetic profile acquired from the tumor tissue was distorted and thus generated a fictitious genetic profile, not corresponding to the subject's real one (normal tissue free of tumor cells)., (© 2024. The Author(s).)

When a charred corpse is found, a primary unavoidable phase of the subject's identification is performed. Then, the medico-legal investigation must clarify whether the charring occurred before or after death, and so establish a differential diagnosis between accidental, homicidal, or suicidal modality. We report three cases of charred corpses in which a death dynamic was initially suspected but subsequently disproved: a suicidal intoxication in arson at first thought to be homicidal strangulation, a suicidal hanging revealed by neck haemorrhages in a suspected accidental fire, a femicide through ligature strangulation concealed with the simulation of a car accident. Many of the events are accidental, related to fires or traffic accidents. However, it must be considered that charring following a murder was deliberately provoked to prevent the identification of the subject and to conceal evidence of how the murder occurred. Because of the complex operational conditions in the study of a charred corpse, all the diagnostic tools proper to forensic science should be held beyond the preliminary circumstantial suggestions. We aim to emphasise the importance of a multidisciplinary approach since the solution of the three cases was possible thanks to the combination of crime scene investigation, radiological exams, autopsy, and histopathological and genetic analysis., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Introduction: Artificial intelligence has become an increasingly powerful technological instrument in recent years, revolutionizing many sectors, including public health. Its use in this field will inevitably change clinical practice, the patient-caregiver relationship and the concept of the diagnosis and treatment pathway, affecting the balance between the patient's right to self-determination and health, and thus leading to an evolution of the concept of informed consent. The aim was to characterize the guidelines for the use of artificial intelligence, its areas of application and the relevant legislation, to propose guiding principles for the design of optimal informed consent for its use., Materials and Methods: A classic review by keywords on the main search engines was conducted. An analysis of the guidelines and regulations issued by scientific authorities and legal bodies on the use of artificial intelligence in public health was carried out., Results: The current areas of application of this technology were highlighted, divided into sectors, its impact on them, as well as a summary of current guidelines and legislation., Discussion: The ethical implications of artificial intelligence in the health care system were assessed, particularly regarding the therapeutic alliance between doctor and patient, and the balance between the right to self-determination and health. Finally, given the evolution of informed consent in relation to the use of this new technology, seven guiding principles were proposed to guarantee the right to the most informed consent or dissent., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2024 Saccà, Turrini, Ausania, Turrina and De Leo.)

Background: Massively Parallel Sequencing (MPS) allowed an increased number of information to be retrieved from short tandem repeat (STR) analysis, expanding them not only to the size, as already performed in Capillary Electrophoresis (CE), but also to the sequence. MPS requires constant development and validation of the analytical parameters to ensure that the genotyping results of STRs correspond to those obtained by CE. Given the increased frequency of usage of Y-STRs as supplementary markers to the autosomal STRs analysis, it is urgent to validate the concordance of the typing results between CE and MPS analyses., Methods and Results: DNA extracted from 125 saliva samples of unrelated males was genotyped using Yfiler™ Plus PCR Amplification Kit and ForenSeq™ DNA Signature Prep Kit, which were analyzed by SeqStudio™ Genetic Analyzer for HID and MiSeq™ FGx Forensic Genomics System, respectively. For each shared Y-STR, allele designation, number of length- and sequence-based alleles per locus, stutter percentage, and the intra-locus balance of multicopy Y-STRs were screened., Conclusions: Although the number of forensic genetics laboratories that are applying the MPS technique in routine analysis is small and does not allow a global assessment of MPS limitations, this comparative study highlights the ability of MPS to produce reliable profiles despite the generation of large amounts of raw data., (© 2023. The Author(s).)

The SeqStudio™ for human identification (HID) is a new benchtop capillary electrophoresis (CE) platform recently developed by Applied Biosystems for genotyping and sequencing short tandem repeat (STR) fragments. Compared to the previous series of CE systems developed by this maker, it is more compact and easier to use. Moreover, by allowing the detection of 4 to 8 fluorescent dyes, it seems to be fully compatible with the different kits of autosomal and gonosomal STR markers usually used in forensic genetics, which are available in trade and supplied by various manufacturers. However, being a new CE model, before its routine use in forensic genetics applications, it should undergo appropriate analytical validation studies in its own laboratories to understand its potential and limitations. A series of experiments on DNA samples coming from cell line controls, using the GlobalFiler™ IQC Amplification Kit, were carried out to meet this purpose. The SeqStudio™ Genetic Analyzer for HID's findings on genotyping reproducibility (precision and accuracy of sizing), sensitivity, signal variability between dyes (intra- and inter-color channel balance), and stutter ratios are reported. These findings confirm the validity of this new CE system and its capability to generate reliable results., (© 2023. The Author(s).)

Surprisingly, Italian legal doctrine and jurisprudence never systematically address the medical error disclosure issue. The topic of medical error communication represents a non-negligible profile of interest, relating to the possible detrimental effects on doctors who accuse themselves of conduct that does not comply with the lex artis. The effects of error disclosure on the effectiveness of insurance guarantees in civil and administrative liability are particularly relevant, as are the implications for ethical liability. Although the burden of reporting an error falls within the wide range of informative duties doctors hold, it still seems far from having found a factual statement in clinical practice, especially in Italy. This applies whether the error has a marginal or significant impact on the patient's health. The reasons lay in a very contradictory legal framework. Doctors tend with increasing ease not to comply with their information obligation - especially in cases where fulfilling this duty means admitting a personal, professional error - to preserve the integrity of their professional images. This article aims to offer a brief overview of that topic in the context of Italian healthcare., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Background: In many forensic cases, the medical records of the deceased are not available at the time of the autopsy; therefore, no information about the deceased's state of health, including any infectious diseases contracted during life, is accessible. The detection of some of the principal viral infections, such as hepatitis B virus (HBV), hepatitis C virus (HCV), and human immunodeficiency virus type 1 (HIV-1), could contribute to determining causes of death and interesting applications could be found in medico-legal practice, such as occupational risk assessment. To date, accurate and sensitive serological and molecular assays capable of detecting these viruses have been validated on biological samples taken from living beings, while their efficiency on forensic post-mortem biological samples has yet to be thoroughly assessed. To further this aim, this study evaluated whether the nucleic acid amplification techniques (NAATs) for the detection of viral genomes that are applied in clinical settings can be used, with the same success rate, for these latter samples., Methods: Manual viral nucleic acid extraction processes and fully-automated amplification-based detection techniques developed in-house were evaluated on blood samples taken during the routine autopsies of 21 cadavers performed 2 to 9 days after death. Information on HBV, HCV, and HIV-1 seropositive status was previously known for only four of these cadavers., Results: Using automated quantitative real-time PCR (qPCR) and qualitative PCR (end-point) analyses, it was possible to confirm the presence of viral genomes in the four post-mortem whole blood samples with previously reported specific serological positivity. In addition, the genomes of HCV and/or HIV-1 genomes were detected in three other blood samples with unknown serological status at the time of autopsy., Conclusions: Therefore, our findings suggest that molecular assays may detect the presence of viral genomes in forensic post-mortem blood samples up to five days after death. This provides an additional means of investigation that can contribute to the determination of the deceased's cause of death., Competing Interests: The authors declare no conflict of interest., (© 2022 The Author(s). Published by IMR Press.)

Lichtenberg figures are pathognomonic markings commonly described as transient pink-red fractal pattern marks on the skin of people struck by a lightning. Their nature and the underlying physiopathology are still largely unknown. Here we describe a Lichtenberg figure in a 45-year-old woman who died due to a lightning strike during a thunderstorm. On autopsy, five days after the fatal event, she presented atypical green Lichtenberg figures on the skin of her abdomen. This appearance has not previously been described in the scientific literature, so a review of literature was done to support our observation., (Copyright © 2022 Elsevier B.V. All rights reserved.)

Multiple suicidal gunshot wounds are rare and often present a challenging issue for forensic pathologists in determining the manner of death.We describe three cases of suicidal multiple gunshot wounds in which crime scene investigation, cadaveric examination, and autopsy were provided. In all cases, integration of circumstantial data and crime scene investigation suggested a suicidal event.Firstly, we describe the self-infliction of two gunshots to the chest and head in a 90-year-old man by a revolver with wounds to the left lung and lethal wound to both frontal and temporal lobes. The second case concerns a 97-year-old man found dead with two gunshot wounds to the chest by a semi-automatic weapon and bullets penetrated to the left lung and heart. The last case, exceptional in literature, is a 41-year-old man with three self-inflicted gunshots, all-penetrating the left lung and the heart, using a revolver. This paper illustrates that immediate incapacitation can lack even in case of multiple fatal gunshot wounds on instantaneously lethal targets. Therefore, a complete investigation is required for a correct interpretation of the manner of death.An extensive review of literature is also provided., (© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

At the dawn of the fourth industrial revolution, the healthcare industry is experiencing a momentous shift in the direction of increasingly pervasive technologization of care. If, up until the 2000s, imagining healthcare provided by robots was a purely futuristic fantasy, today, such a scenario is in fact a concrete reality, especially in some countries, such as Japan, where nursing care is largely delivered by assistive and social robots in both public and private healthcare settings, as well as in home care. This revolution in the context of care, already underway in many countries and destined to take place soon on a global scale, raises obvious ethical issues, related primarily to the progressive dehumanization of healthcare, a process which, moreover, has undergone an important acceleration following the outbreak of the COVID-19 pandemic, which has made it necessary to devise new systems to deliver healthcare services while minimizing interhuman contact. According to leading industry experts, nurses will be the primary users of healthcare robots in the short term. The aim of this study is to provide a general overview, through a scoping review approach, of the most relevant ethical issues that have emerged in the nursing care field in relation to the increasingly decisive role that service robots play in the provision of care. Specifically, through the adoption of the population-concept-context framework, we formulated this broad question: what are the most relevant ethical issues directly impacting clinical practice that arise in nursing care delivered by assistive and social robots? We conducted the review according to the five-step methodology outlined by Arksey and O'Malley. The first two steps, formulating the main research question and carrying out the literature search, were performed based on the population-context-concept (PCC) framework suggested by the Joanna Briggs Institute. Starting from an initial quota of 2,328 scientific papers, we performed an initial screening through a computer system by eliminating duplicated and non-English language articles. The next step consisted of selection based on a reading of the titles and abstracts, adopting four precise exclusion criteria: articles related to a nonnursing environment, articles dealing with bioethical aspects in a marginal way, articles related to technological devices other than robots, and articles that did not treat the dynamics of human-robot relationships in depth. Of the 2,328 titles and abstracts screened, we included 14. The results of the 14 papers revealed the existence of nonnegligible difficulties in the integration of robotic systems within nursing, leading to a lively search for new theoretical ethical frameworks, in which robots can find a place; concurrent with this exploration are the frantic attempts to identify the best ethical design system applicable to robots who work alongside nurses in hospital wards. In the final part of the paper, we also proposed considerations about the Italian nursing context and the legal implications of nursing care provided by robots in light of the Italian legislative panorama. Regarding future perspectives, this paper offers insights regarding robot engagement strategies within nursing., Competing Interests: The authors declare that there are no conflicts of interest regarding the publication of this study., (Copyright © 2021 Filippo Gibelli et al.)

Abusive head trauma (AHT) in children is notoriously one of the most challenging diagnoses for the forensic pathologist. The pathological "triad", a combination of intracranial subdural haematoma, cerebral oedema with hypoxic-ischaemic changes and retinal haemorrhages, is frequently argued to be insufficient to support a corroborated verdict of abuse. Data from all available English-language scientific literature involving radiological and neuropathological spinal cord examination is reviewed here in order to assess the contribution of spinal cord changes in differentiating abusive from accidental head trauma. In agreement with the statistically proven association between spinal subdural haemorrhage (SDH) and abuse (Choudhary et al. in Radiology 262:216-223, 2012), spinal blood collection proved to be the most indicative finding related to abusive aetiology. The incidence of spinal blood collection is as much as 44-48% when all the spinal cord levels are analysed as opposed to just 0-18% when the assessment is performed at cervical level only, in agreement with the evidence of the most frequent spinal SDH location at thoracolumbar rather than cervical level. In this review, the source of spinal cord blood collection and how the age of the child relates to the position of spinal cord lesions is also discussed. We concluded that the ante mortem MRI examination and post mortem examination of whole-length spinal cord is of fundamental interest for the assessment of abuse in the forensic setting.

The introduction of next generation sequencing (NGS; also known as massively parallel sequencing) technology in the field of forensic genetics has been welcomed by the scientific community, above all because it complements the weaknesses of capillary electrophoresis (CE) in the analysis of genetic markers, such as single nucleotide polymorphism (SNP) typing. However, one of the main obstacles to its adoption does not seem to be the cost of the instrumentation, but rather the cost of the NGS library preparation kits. With the aim of reducing the cost of library preparation without compromising the quality of the results, we tried to scale down reaction volumes for the first two polymerase chain reactions in the amplification and enrichment phases of the targeted loci of library preparation using the ForenSeq™ DNA Signature Prep kit. We used 1 µL templated DNA input to a concentration of 1 ng/µL, instead of the 5 µL at 0.2 ng/µL recommended by the manufacturer. Our findings indicate that reduction of the library preparation volume using the ForenSeq™ DNA Signature Prep kit did not interfere with the quality and reproducibility of the DNA profiles obtained and can help lower the overall cost of NGS.

The magnitude of the diagnostic benefit conferred by performing histopathological examinations after medico-legal/forensic autopsies remains debatable. We have tried to address this issue by reviewing a series of histopathology referrals concerning medico-legal autopsies in real-world routine practice. We present an audit of the consultations provided to forensics by clinical pathologists at our institute between 2015 and 2018. Over this period, 493 post-mortem examinations were performed by forensic pathologists. Of these cases, 52 (11%) were referred for histopathology. Gross assessment was requested in 22/52 (42%) cases. Histopathology examination was performed on single organs in 15/52 (29%) cases, primarily on the lung and heart, whereas parenchymatous multi-organ analysis was carried out in 14/52 (27%) cases. Bone-marrow sampling was studied in 4/52 (8%) cases. Immunohistochemistry was needed in 16/52 (31%) cases, special stains in 9/52 (21%) cases and molecular analysis in 4/52 (8%) cases. Focusing on technical processes, standard methodology on pre-analytical procedures was changed in 10/52 (19%) cases in order to answer specific diagnostic questions. We showed that although most of the time the diagnosis is clear by the end of dissection on the basis of the macroscopic findings, histopathology can provide, modify or confirm the cause of death in many medico-legal/forensic cases. Therefore, it is desirable that forensic pathologists and clinical pathologists establish robust working relationships in a cooperative environment. We conclude that it is important to implement guidelines based on real-world routine practice in order to identify cases where histopathology can provide useful contributions, which in our experience applied to 11% of forensic cases.

The relationship between physician and patient has undergone profound changes in recent years. Patients increasingly insist on being thoroughly informed with detailed information about treatments and procedures suggested for their best care. This is also due to the growing suspicion towards doctors and the health-care system in general. Therefore, it is no longer possible to hide a medical error. To satisfy the request for honesty and safety of patients and society, it is necessary to enhance the skills and tools that physicians can use when disclosing and explaining an error to the patient. All modern codes of medical conduct acknowledge the importance of strengthening communication between physician and patient, which is the only way to save a relationship under constant threat of rupture and to improve the quality and safety of the treatment. The disclosure and explanation of the error has become not only an ethical duty but also a prudent way of avoiding negligence lawsuits. In this context, in 2013, Germany approved a law known as Patientenrechtegesetz , which we consider a good compromise between patient expectations and the need for doctors to work without the constant fear of being sued for malpractice. This work seeks to provide an overview of the most important issues pertaining to disclosure of medical error and of practice in other countries, with the aim of offering a contribution to the debate on this subject in Italy.