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Atypical allelic patterns with additional alleles at multicopy Y-short tandem repeats (Y-STRs), such as DYS385a/b and DYF387S1, mainly arise from duplication or gene conversion events occurring in the palindromic regions of the Y chromosome where these markers are located. Although rarely encountered in forensic genetics, these allelic patterns require accurate deconvolution of the single allelic components to ensure correct genotype interpretation. Capillary electrophoresis (CE), the standard method for STR typing, infers multiallelic Y-STR genotypes through intra-locus and intra-color peak height ratios. However, this approach may be insufficient when the pattern includes isoalleles (alleles identical in length but differing in sequence), potentially leading to an underestimation of the number of alleles and therefore the true allelic configuration. Massively parallel sequencing (MPS) technique, through amplicon sequence-based analysis, provides additional information that can overcome ambiguities and interpretative errors arising from CE analysis of complex Y-STR patterns. In this study, analysis of raw MPS sequence data enabled the identification, in two male-derived DNA samples, of complex tri-allelic patterns at DYS385a/b and DYF387S1 loci, classifiable as type 2-B and 2-C, respectively. Furthermore, in a third male-derived DNA sample, a previously undescribed tetra-allelic pattern was detected at DYF387S1, characterized by an isoallele with double read counts.

In this study, 172 Single-Nucleotide Polymorphisms (SNPs) (94 identity-informative SNPs, 56 ancestry-informative SNPs, and 22 phenotypic-informative SNPs) included in the ForenSeq™ DNA Signature Prep kit/DNA Primer Mix B (Verogen) were used for genotyping DNA samples from a population of twenty-one unrelated subjects, native to Northeast Italy. SNP sequencing was performed with the MiSeq FGx™ Forensic Genomics System (Illumina-Verogen), and data were analyzed using the Universal Analysis Software (UAS) v1.2. Raw data underwent further examination with STRait Razor v3 (SRv3) to compare the target SNPs’ genotype calls made with UAS and to identify the presence of microhaplotypes (MHs) due to SNPs associated with the same target SNP’s amplicon. The allele (haplotype) frequencies, Hardy–Weinberg equilibrium, linkage disequilibrium, number of effective alleles (Ae), and relevant forensic statistic parameters were calculated. Among the 172 SNPs evaluated, 45 unique microhaplotypes were found, comprising a novel sequence variant never previously described. The presence of MHs resulted in an 8.00% rise in the typologies of unique sequences, leading to changes in Ae. Notably, for 12 out of the 94 iiSNPs, the values of Ae exceeded 2.00, which is generally associated with a higher expected heterozygosity and increased power of discrimination.

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 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.

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.

The imposition of compulsory health treatments has always been a subject of animated legal and bioethical debate. What is at stake are two opposing interests that are in their own way protected by international treaties and constitutional provisions: the right to individual self-determination and the duty to defend and preserve collective safety. The global health crisis related to the COVID-19 pandemic has placed the issue of the legitimacy of imposing compulsory vaccination at the center of the multifaceted debate on pandemic health policies. Indonesia, Tajikistan, Turkmenistan, and the Federated States of Micronesia are currently the only four countries in the world where the COVID-19 vaccine is mandatory for all citizens. Italy was the first country in the European Union to introduce this obligation, effective from 8 January 2022 by virtue of the decree-law approved on 5 January 2022, which imposed vaccination compulsory for everyone over the age of 50. Similar paths have been undertaken by Greece and Austria, where the obligation will start respectively on 16 January 2022 (for citizens aged over 60) and 1 February 2022 (for citizens of all ages). However, in many civilized countries, “selective” forms of compulsory vaccination, i.e., aimed at specific categories of individuals, especially healthcare professionals, are already provided for. The present work aims to offer a concise and as much as possible exhaustive overview of the main ethical and legal issues related to compulsory COVID-19 vaccination, with reference to both the Italian and the international context, mainly European.

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.

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. 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. 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. 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.

Ageing of the global population represents a challenge for national healthcare systems and healthcare professionals, including medico-legal experts, who assess personal damage in an increasing number of older people. Personal damage evaluation in older people is complex, and the scarcity of evidence is hindering the development of formal guidelines on the subject. The main objectives of the first multidisciplinary Consensus Conference on Medico-Legal Assessment of Personal Damage in Older People were to increase knowledge on the subject and establish standard procedures in this field. The conference, organized according to the guidelines issued by the Italian National Institute of Health (ISS), was held in Bologna (Italy) on June 8, 2019 with the support of national scientific societies, professional organizations, and stakeholders. The Scientific Technical Committee prepared 16 questions on 4 thematic areas: (1) differences in injury outcomes in older people compared to younger people and their relevance in personal damage assessment; (2) pre-existing status reconstruction and evaluation; (3) medico-legal examination procedures; (4) multidimensional assessment and scales. The Scientific Secretariat reviewed relevant literature and documents, rated their quality, and summarized evidence. During conference plenary public sessions, 4 pairs of experts reported on each thematic area. After the last session, a multidisciplinary Jury Panel (15 members) drafted the consensus statements. The present report describes Conference methods and results, including a summary of evidence supporting each statement, and areas requiring further investigation. The methodological recommendations issued during the Conference may be useful in several contexts of damage assessment, or to other medico-legal evaluation fields.