Carla Bini

Background/Objectives: Forensic epigenetics complements DNA profiling by informing donor age and trace origin, but technical promise does not establish casework validity. We mapped applications and validation evidence. Methods: Scopus, PubMed/MEDLINE and Web of Science were searched through 15 June 2026. Empirical reports were assigned a dominant application and an author-defined C1–C5 evidence category (not a readiness score). Results: Of 596 assessed full texts, 338 entered the evidence map (322 empirical studies and 16 contextual records). Among studies, 312/322 (96.9%) fell within C1–C3, 10 were C4 and none met the C5 definition of documented routine implementation in the indexed and retrievable corpus. C4 records advanced evaluation designs, which may reveal unsuccessful transfer or unresolved bias rather than acceptable casework performance. Age estimation (177 studies) and body-fluid/tissue identification (92) accounted for all C4 evidence. Of 272 identifiable methylation workflows, chemical conversion predominated; 23 studies were non-methylation, 26 reused methylation data without a new assay and one workflow remained unresolved. Conclusions: Published evidence is substantial but heterogeneous; internal performance cannot substitute for independent validation, inter-laboratory reproducibility, calibrated uncertainty, laboratory-specific procedures, controlled reporting and proportionate governance. Study-level counts do not quantify the proportion of distinct validated methods or establish absence of unindexed operational use.

Background/Objectives: The potential role of domestic animals in DNA transfer, persistence, prevalence and recovery (TPPR) warrants careful consideration in forensic contexts. This mini narrative review aims to provide an updated overview of human DNA transfer involving household dogs and cats as vectors, to clarify their forensic relevance, and to identify key considerations for the design of future experimental research. Methods: A narrative review was conducted using multiple electronic databases as search engines without restriction related to the timing of publication. Results: Experimental evidence shows that dogs and cats readily acquire human DNA following even brief contact, acting as reservoirs for primary DNA transfer. Once acquired, human DNA can be redistributed via secondary transfer to a wide range of substrates, such as gloved hands, vehicle interiors, clothing, and surfaces. Moreover, multi-step and higher-order transfer events have been documented, highlighting the complexity of DNA transfer involving household animals. Conclusions: The sampling on pets may be included in certain scenarios and may contribute to building a Bayesian network together with the experimental data. To deal with uncertainty during probability assignment, more experimental data, especially addressing the main variables impacting DNA TPPR involving pets, should be generated and are highly needed to assist in activity level evaluation.

Background/Objectives: The increasing global trend in nail beautification may lead to analyses of nails with semi-permanent polish for the identification of degraded human remains. This study aimed to evaluate the effects of cosmetic nail treatment on forensic STR DNA profiling and phenotyping of eye, hair, and skin colour characteristics using a massively parallel sequencing (MPS) assay. Methods: Forty-two nail samples obtained from 21 volunteers, classified in “new”, occasional and regular semi-permanent polish users, were submitted to DNA analysis. Results: The use of semi-permanent nail polish, particularly when applied repeatedly, resulted in a significant reduction in DNA recovery, but it did not affect STR typing for personal identification. Mixed STR profiles were observed in 28.6% of the samples, indicating that the nail washing procedure employed before DNA extraction did not completely remove the foreign DNA; however, this could be useful depending on the forensic context. FDP analysis was successfully applied on nails with semi-permanent polish that showed a good quantity of DNA and single-source profiles. Conclusions: The results highlight the evidentiary value of fingernails even if treated with semi-permanent nail polish that should still be regarded as a source of DNA for personal identification and further investigation in the forensic context.

The two primary classes of opioid substances are morphine and its synthetic derivative, heroin. Opioids can cross the placental barrier, reaching fetal circulation. Therefore, at any gestational age, the fetus is highly exposed to pharmacologically active opioid metabolites and their associated adverse effects. This review aimed to investigate all the studies reported in a timeframe of forty years about prenatal and postnatal outcomes of opioid exposition during pregnancy. Clinical and toxicological aspects, as well as pharmacogenetic and epigenetic research focusing on fetal and infant effects of opioid use during pregnancy together with their medico-legal implications are exposed and discussed.

Body fluid identification by means of mRNA profiling provides valuable supplementary information in forensic investigations. In particular, the detection of vaginal mucosa mRNA markers is highly relevant in sexual assault cases. Although the vagina undergoes characteristic age-related physiological changes over a lifetime, few studies have evaluated the efficacy of vaginal mRNA markers in women of different ages. In this multicentric study, a 19-plex mRNA profiling assay including vaginal-specific markers (CYP2B7P1, MUC4, MYOZ1) was tested in a collection of 6–20-month-old vaginal swabs obtained from pre- (n = 84) and postmenopausal (n = 55) female volunteer donors. Overall, participating laboratories were able to correctly identify ~85% of samples as vaginal mucosa by mRNA profiling. The assay’s success rate did not differ between the two age groups and was not affected by the time interval between swab collection and RNA analysis. MYOZ1 resulted a less sensitive vaginal marker compared to MUC4 and CYP2B7P1. A significant relative increase in the contribution to the total amplification signal was observed for MUC4, compared to CYP2B7P1 and MYOZ1, in postmenopausal women. Observation of other body fluids and tissues different from vaginal mucosa was also evaluated in connection to information on previous sexual activity and menstrual cycle phase at the time of sampling.

Sudden cardiac death (SCD) is an unexpected natural death due to cardiac causes, usually happening within one hour of symptom manifestation or in individuals in good health up to 24 h before the event. Genomic screening has been increasingly applied as a useful approach to detecting the genetic variants that potentially contribute to SCD and helping the evaluation of SCD cases in the post-mortem setting. Our aim was to identify the genetic markers associated with SCD, which might enable its target screening and prevention. In this scope, a case–control analysis through the post-mortem genome-wide screening of 30 autopsy cases was performed. We identified a high number of novel genetic variants associated with SCD, of which 25 polymorphisms were consistent with a previous link to cardiovascular diseases. We ascertained that many genes have been already linked to cardiovascular system functioning and diseases and that the metabolisms most implicated in SCD are the lipid, cholesterol, arachidonic acid, and drug metabolisms, suggesting their roles as potential risk factors. Overall, the genetic variants pinpointed herein might be useful markers of SCD, but the novelty of these results requires further investigations.