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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. [ABSTRACT FROM AUTHOR]

Vascular abnormalities of the spleen are infrequently encountered in medical practice and, among these, an aneurysm of the splenic vein is a rare event, being only a few dozen cases reported to date in the literature. The rarity of this clinical condition hinders the understanding of its clinical history, related medical management and potential complications, which are currently unclear. In this article, we report an autopsy case observed in the practice of forensic medicine concerning a 45-year-old woman, anaemic, who died at home a few hours after a previous hospital evaluation for abdominal pain and vaginal spotting. The autopsy revealed a massive secondary hemoperitoneum caused by a laceration of the spleen. On examination of the organ, an aneurysm of the proximal branch of the splenic vein was detected, affected by complete thrombotic occlusion. This case offers a new perspective regarding the clinical evolution of splenic vein aneurysm to death, unprecedented in the current literature. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

This document is a correction notice for an article titled "Concordance study on Y-STRs typing between SeqStudio™ genetic analyzer for HID and MiSeq™ FGx forensic genomics system" published in the journal Molecular Biology Reports. The correction states that the given and family names of all the authors were incorrectly swapped in the original version of the article. The correct names of the authors are Giulia Soldati, Stefania Turrina, Mirko Treccani, Chiara Saccardo, Francesco Ausania, and Domenico De Leo. The correction has been made to the original article. The publisher, Springer Nature, remains neutral regarding jurisdictional claims and institutional affiliations. [Extracted from the article]

Dear Editor, Functional neurological disorders (FND) are common in general neurology, with an incidence of 4 to 12 per 100,000 population per year and a prevalence of 50 per 100,000 population. Nonetheless, patients suffering from FND experience disability and distress similar to patients with chronic neurodegenerative disorders. In a large study, FND patients were detected to have more severe self-reported disability as well as physical and mental distress and unemployment because of health reasons than controls with neurological diseases. [Extracted from the article]

Background: Y-chromosomal short tandem repeats (Y-STRs) are essential to relate male lineages in forensic and evolutionary studies. Although large panels of Y-STR markers are now available, none possess sufficient discrimination power to distinguish close male relatives. This limit may be overcome by the use of rapidly mutating Y-STRs (RM Y-STRs), characterized by mutation rates higher than common Y-STRs. Recently, multicenter studies evaluated the ability of RM Y-STRs to differentiate father-son pairs; however, more extensive data on distantly related males are needed.Study Design and Method: A total of 157 male relative pairs separated by two to seven meiotic events, originating from Italy, were analyzed by 13 RM Y-STRs and 23 Y-STRs.Results: Overall, 154 mutational events were observed at RM Y-STR loci and the estimated mutation rate was of 2.59 × 10(-2) (95% confidence interval, 2.16 × 10(-2) -2.97 × 10(-2) ). A total of 105 male relative pairs showed at least one mutation in at least one locus and differentiation rates increased from 52.8% to 88.9% from the second to the fourth generation, while 23 Y-STRs provided much lower values, spanning from 10.1% to 29.6%.Conclusions: These findings confirmed the higher capability of RM Y-STRs than conventional Y-STRs to resolve male lineages, thus suggesting a possible future use for forensic male individual identification. [ABSTRACT FROM AUTHOR]

The study aimed at evaluating whether the adoption of enlarged batteries of STR markers in kinship analysis may provide LR values suitable for discrimination of relatives from non-relatives, in comparison to conventionally used STR panels. The presence of LD among some loci and its effects on LR values were also assessed. Three hundred pairs of related and unrelated individuals, each separated from 1-3 generations and residing in North Italy were genotyped with the Investigator HDplex STR kit (Qiagen), AmpFlSTR Identifiler (Applied Biosystems), and PowerPlex Fusion System (Promega). Loci and alleles shared between each pair and within groups of relatives were compared. Also, combined LR values with and without loci in LD, sensitivity and specificity were calculated for each commercial kit and their combinations. Full siblings displayed the largest number of shared loci and alleles, with a proportion of LR ≥ 10 results significantly higher than other degrees of relatedness and, consequently, with the lowest percentage of inconclusive and false negative results. Only minor differences were detected in the combined LR distributions, after including or omitting loci in LD. However, these became only appreciable when analyzing more distant relative pairs.The implementation of additional STRs into the LR calculation allowed a complete and robust discrimination between relatives and non-relatives only for full siblings, by removing the typical uncertainty of the 'grey zone', while this was not achieved among other degrees of relatedness. Furthermore, the presence of loci in LD seems to not significantly affect LR distributions within each generation. [ABSTRACT FROM AUTHOR]

The PowerPlex® Y 23 System (Promega) is a short tandem repeat (STR) multiplex that allows co-amplification of 23 gonosomal Y-STRs, combining 17 loci commonly included in commercially available kits (DYS389I, DYS448, DYS389II, DYS19, DYS391, DYS438, DYS437, DYS635, DYS390, DYS439, DYS392, DYS393, DYS458, DYS385a/b, DYS456, and Y-GATA-H4) and six new loci (DYS481, DYS549, DYS533, DYS643, DYS576, and DYS570) with the last two being rapidly mutating Y-STRs (RM Y-STRs). In order to assess the possible gain in forensic efficiency provided by the six additional markers, a population sample of 410 unrelated healthy males originating from Northeast Italy (Veneto, Trentino Alto Adige, Lombardia, and Friuli Venezia Giulia regions) was typed. The data (335 of the 410 samples) are available in the Y chromosome haplotype reference database under accession number YA003327. Overall, 410 unique haplotypes were found corresponding to a global haplotype diversity (HD) of 0.999994 with a discriminatory capacity (DC) of 100 %. Allelic microvariants, null alleles, and duplications were detected. Pairwise genetic distances ( R) calculated among neighboring European reference populations revealed no significant differences. Furthermore, for studying Y-STR mutation rates, 90 father-son pairs, in which the fathers were already included in the full dataset, were tested. On a total of 2,070 meioses considered, eight single-step mutational events were observed, two of which within the same father-son pair and the average mutation rate was 3.38 × 10 per locus per generation (95 % confidence interval, 1.36 × 10-6.95 × 10). [ABSTRACT FROM AUTHOR]

Increasing the knowledge of multiple and microstructural events within the Y-chromosome may prove useful to better characterize abnormal short tandem repeats patterns complicating DNA profile interpretation. On the long arm of the human Y-chromosome, such structural rearrangements were observed in azoospermia factor regions (AZFa, AZFb, AZFc) that play an important role in male fertility and also host Y-STRs commonly used in forensic genetics. Here, we describe two cases, involving two males formerly included in an Italian population study, where DYS448 and DYS626 loci, located within the AZFc region, simultaneously displayed a double deletion in one case and a double duplication in the other. With the aim of better defining the size of both events, low and high-resolution mapping by means of 16 sequence-tagged sites was performed, and unexpected discontinued patterns within the palindromic segments b1/b3 of the AZFc were identified. Extending the analysis to their respective male relatives revealed unaltered transmission of the patterns along the two pedigrees. Reviewing literature data describing DYS448-DYS626 deletion and duplication suggested no close correlation between the occurrence of multiple/microstructural events and geographical origin. [ABSTRACT FROM AUTHOR]

Autosomal short tandem repeats (STRs) analysis represents the method of election in forensic genetics and up to now, 23 STRs are available for these purposes. However, in particular circumstances such as human identification or complex kinship cases, examination of additional STRs may be required in order to obtain reliable conclusions. For this purpose, a new multiplex STR system, namely Investigator® HDplex kit (QIAGEN) that coamplifies a set of 12 autosomal loci, 9 of which, represents novel supplementary STRs, was recently developed. A population sample of 359 unrelated healthy subjects residing in North Italy was typed to determine allele frequencies, forensic parameters and genetic distances among European populations. Furthermore, to evaluate the suitability of the HDplex kit as an auxiliary tool for paternity testing, mutation rates were estimated on 84 confirmed family trios. The 12 loci resulted highly informative with a combined power of discrimination of 0.999998 and no departures from Hardy-Weinberg equilibrium were observed with the sole exception of locus D4S2366. From the comparison of our population sample and European reference populations, a single significant difference was revealed with the Poland population at D4S2366 locus. With regard to the mutation rate study, on a total of 2,016 meioses considered, six single-step mutational events were observed and the average mutation rate calculated was of 2.94 × 10 per locus per generation (95 % confidence interval, 1.08 × 10-6.39 × 10). [ABSTRACT FROM AUTHOR]

The PowerPlex® Fusion System (Promega, Madison, WI) is a short tandem repeat (STR) multiplex that allows co-amplification of 22 autosomal STRs, including the CODIS core and the European Standard Set loci, plus amelogenin for gender determination and DYS391 male specific marker included in order to avoid errors in gender assignment when null Y-alleles or deletions of the Y-chromosome short arm involve the amelogenin locus. Allele frequencies and forensic efficiency parameters were estimated in a population sample of 303 unrelated healthy individuals living in Northern Italy. No significant deviations from Hardy-Weinberg expectations were observed after applying Bonferroni's correction for multiple testing. The combined power of discrimination was 0.999999999999 and the combined power of exclusion was 0.9999956. A rare 28 allele at locus D12S391 was observed, while one tri-allelic pattern at Penta E locus was detected. Population differentiation test revealed significant genetic diversity between our population sample and other European populations considered. The results showed that the PowerPlex® Fusion System is one of the most informative kit available in forensic genetics and may prove useful in both human identification and kinship analysis. [ABSTRACT FROM AUTHOR]

Discusses the collection of samples for database studies from unrelated healthy individuals living and born in North Italy. Extraction of DNA from blood samples; Determination of the quantity of human DNA by spectrophotometry; Typing of the amplified products.