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- Genetic identification of human skeletal remains in forensic context: a reviewPublication . Cainé, Laura; Henriques, Madalena; Rohovska, Adelina; Sousa, Bárbara; Afonso Costa, Heloísa; Correia Dias, Maria Helena; Rodrigues, Joana; Franco, Magda; Mukan, Olena; Nascimento, Rui; Vânia Mofreita; Amorim, AntónioBackground/Objectives: Genetic identification of human skeletal remains plays a pivotal role in forensic investigations when other traditional or primary methods are not appropriate. Decomposition, storage and environmental conditions often leave the skeletal structure as the only basis for identification. This review synthesizes current methodologies and technological advances in damaged DNA extraction and analysis, emphasizing the forensic relevance of skeletal remains for genetic identification. Methods: A comprehensive literature analysis highlights the basis of genetic identification; sampling that considers intrinsic and extrinsic factors influencing the DNA yield and its quality; pre-treatment methods; extraction protocols that are suitable for its sensitivity; genetic marker panels that allow for human identification; and statistical evaluation and analysis of the results. The last chapter demonstrates the real-world impact of genetic identification on historical cases, underscoring its broader significance in legal, humanitarian, and socio-historical contexts, supporting a critical evaluation of best practices, methodological robustness, and ethical considerations within the field. Results: Teeth, femur and the petrous portion of temporal bone are the main samples used for genetic analysis. STR profiling and mitochondrial DNA are the gold standard markers for skeletal human identification. Minimally destructive protocols that enhance a high DNA yield are chosen, with silica-based methods being highlighted in the extraction protocols. Next-Generation Sequencing techniques have also improved analytical outcomes, by enabling high-throughput data generation, increased coverage depth, nucleotide-level sequence data, and high-level multiplexing of genetic targets. Conclusions: This review provides a comprehensive framework for researchers and practitioners seeking to optimize genetic identification workflows in forensic sciences and bioarcheology. These methodological advances have significantly increased identification success rates, especially in cases involving degraded or limited skeletal remains. Reviews such as this one help us to identify methodological gaps, ethical concerns, and future research directions, thereby establishing best practices when working with highly degraded skeletal material, supporting more reliable, standardized, and legally defensible applications of genetic identification in forensic, archeological, and humanitarian contexts.
- Detection and quantification of selected cannabinoids in hair samples by liquid-liquid extraction and LC-MS/MSPublication . Antunes, Mónica; Simões, Susana; Fonseca, Suzana; Franco, João; Barroso, Mário; Gallardo, EugeniaCannabis remains the most used illicit drug worldwide, with rising use linked to medical and recreational decriminalization. This has driven the development of analytical techniques to detect cannabinoids in biological matrices. Hair offers key advantages due to its non-invasive collection, extended detection window, stability, and easy storage. This study presents the development and validation of a robust method for extracting natural cannabinoids from hair, following ANSI/ASB 2019, FDA, and Society of Hair Testing guidelines. Hair samples were washed with methanol and cut into small pieces. Approximately 20 mg of hair was incubated with 1 M NaOH and methanol (30 min, 50 °C). The mixture was acidified with acetic acid and underwent liquid-liquid extraction using hexane/ethyl acetate (90/10, v/v). The organic phase was evaporated and reconstituted in 1-pentanol/methanol (50/50, v/v). Analysis was conducted by LC-MS/MS using multiple reaction monitoring (MRM) and triple-stage mass spectrometry (MS³). The method was selective, specific, precise, and linear, with working ranges of 5-2000 pg/mg for THC, CBN, and CBD; 50-2000 pg/mg for THC-OH; and 0.2-20 pg/mg for THC-COOH. Ion suppression was observed but did not affect sensitivity, with LLOQs and LODs from 0.2 to 50 pg/mg. Over 25 hair samples from university students tested positive for cannabis. THC ranged from 5.9 to 2430.7 pg/mg; one sample had THC-OH above LLOQ (61.4 pg/mg); THC-COOH ranged from 0.3 and 36.4 pg/mg; CBN from 5.7 to 461.0 pg/mg; and CBD from 5.7 to 850.2 pg/mg. Results aligned with self-reported use, confirming the method's forensic suitability.
- Development and validation of a simple and fast method for routine analysis of new synthetic opioids and hallucinogens in whole blood using protein precipitation and UHPLC-MS/MSPublication . Pereira, Joana R.P.; Antunes, Mónica; Neng, N.R.; Mustra, Carla; Franco, João; Fonseca, SuzanaIn forensic toxicology, the rapid and reliable detection of emerging synthetic opioids and hallucinogens is crucial for case investigations and public health monitoring. This work describes the development, optimization and validation of a simple, fast and sensitive methodology for the simultaneous analysis of 6 new synthetic opioids (carfentanil, fentanyl, isotonitazene, metonitazene, norfentanyl, and sufentanil) and 2 hallucinogens (lysergide [LSD] and mescaline), together with the main LSD metabolite 2-oxo-3-hydroxy-lysergide [LSD-OH], in whole blood samples by liquid chromatography coupled to tandem mass spectrometry. Under optimized experimental conditions, linearity was verified between 0.1 and 20 ng/mL for all analytes except mescaline (2.5-500 ng/mL), with r2 > 0.99 for 1/x weighting, and no significant carryover or matrix effects were observed. Good precision (% RSD < 13 %) and trueness (% Bias within ± 20 %) values were achieved. The estimated limit of quantification (LOQ) was 0.1 ng/mL for all compounds except mescaline (2.5 ng/mL). Authentic forensic samples were also analyzed, and positive samples for fentanyl, norfentanyl, and sufentanil were identified. The proposed methodology allows the simultaneous analysis of compounds from different families of psychoactive substances, in both postmortem and in vivo samples, using only 50 µL of whole blood. The demonstrated speed, simplicity, and effectiveness make it particularly advantageous for routine implementation in forensic toxicology laboratories.
- Medico-legal examination of sexual assaulted victims unable to consent in Portugal: ethical decision makingPublication . Santa-Rosa, Bárbara; Silvestre, Margarida; Vieira, Duarte Nuno; Corte Real, FranciscoMedical decision-making is a complex task in any field. In the medico-legal examination of victims that have (allegedly) been sexually assaulted there are many specific variables and features influencing the decision. It is essential to complement the clinical intervention with a forensic approach. Clinical parameters such as the victim's physical and cognitive state along with circumstantial information such as the elapsed time from the event and the type of abuse (described or suspected) grant different levels of priority to the forensic medical assessment. In such cases, forensic medical doctors or other medical doctors responsible for attending to the victim may have to decide whether to perform the examination prior to a judicial analysis of the case if consent cannot be obtained. This implies the need to deliberate about performing the examination and/or reporting the case to legal authorities. This article discusses the forensic medical decision-making process in cases of alleged recent sexual assault of victims who are legally unable to consent or unable to consent for other reasons. We aimed to identify possible ethical problems that can arise in this context and discuss which elements should be considered by medical doctors when making decisions about such cases. The Portuguese legal framework of medico-legal examinations is analyzed. The authors also make considerations about reporting these cases from a legal point of view. The discussion turns to an ethical perspective where possible ethical problems arising from medical deliberation are identified. Issues about legally incompetent victims and incompetent victims due to other reasons are addressed. A decision-making tree, based on the problems identified, is proposed.
- Reading between the lines. Older people’s maltreatment: from detection to reporting in primary healthcarePublication . Frazão, S.; Morais, C.; Norton, P.; Pinto, P. Vieira; Magalhães, T.The issue of older people’s maltreatment (OPM) is gaining increased attention worldwide because of its significant short and long-term severe consequences. Healthcare professionals play a crucial role in detecting, reporting, and managing these cases, but many difficulties in these procedures exist, and underreporting is very frequent. Thus, the aim of this study was to identify the extent of and difficulties in detecting and reporting suspected OPM cases by general practitioner physicians in Portugal. A cross-sectional survey was conducted among general practice physicians (GPPs) to assess their perceptions, experiences, and challenges in detecting and reporting older people maltreatment (OPM). The 13-item questionnaire explored sociodemographic factors, responsibility, confidence, reporting practices, and training needs, providing an updated insight into OPM management in primary healthcare. It was anonymous and conducted through a self-report questionnaire distributed in paper format to GPPs working in the National Health Service in the Northern of Portugal. We received 356 completed questionnaires for further analysis. The findings indicate that, on average, physicians suspect fewer than one OPM case per year; only 32% suspected at least one case in the previous year, although 55.3% and 54.5% of the physician’s revealed confidence in identifying signs of physical abuse and neglect, respectively. The ambiguity of the psychological symptoms was identified as a great challenge in detection (50.3%). Only 36.5% of the physicians were acquainted with the procedures for reporting suspected cases; however, of the 32% who suspected at least of one case in the previous year, only 39.5% reported all or at least some suspected cases; 16.9% chose not to report the case when requested by the victim or his/her caregivers. Most (91.6%) expressed a willingness to adopt protocols to assist them in managing such cases. A correlation was found between physicians’ satisfaction with OPM reporting training during undergraduate and postgraduate education and their ability to report (p=0.024), as well as with the number of reported cases (p=0.003). Thus, the detection and reporting of OPM by physicians remain major challenges that need to be overcome. Further research and greater awareness of the importance of these procedures are essential to ensure victims’ protection, safety, and health.
- General data protection regulation: an algorithmic proposal for forensic photographyPublication . Cura, Mariana; Loureiro, Ricardo; Marcelino, Pedro; Rodrigues, Vanessa; Andrade, José PauloSince 2018, the General Data Protection Regulation (GDPR) has regulated personal data within the scope of the European Union. With the exponential technological advancements in mobile photography, it is crucial to expose forensic professionals to this body of law to maintain good practices for fieldwork and scientific research in this field. GDPR, as far as its application in forensic photography, can be broken down into four pillars: informed consent of the subject, acceptable image capture practices (data), data storage and security at rest, and data transfers and security in transit. All these pillars have different approaches currently in use by forensic professionals. However, only some of them are permitted under the law. We present the appropriate ways to proceed with smartphone photography while remaining in compliance and maintaining the ability to share data critical to fieldwork and scientific research. In addition, some of the common pitfalls are described. An algorithm is proposed to facilitate compliance with European regulations relating to personal data, as applied to mobile forensic photography. The same flow chart can be used in other countries with different regulations concerning health data, privacy, and security issues.
- Oral health professional intervention and child physical abuse: European legal approachPublication . Corte-Real, Ana; Almiro, Pedro Armelim; Silva, Mafalda; Nunes, Tiago; Abreu, João; Carreira, Carla; Vieira, Duarte NunoPhysical violence against children and adolescents is an issue of Global Public Health. This study aims to identify traumatic injuries and the medicolegal temporary framework of the victim’s profile in the European legal approach. Participants and setting include the following: the clinical reports of a Portuguese European Clinical Academic Center database were analysed. An observational and prospective cohort study was performed. A descriptive analysis of the variables was conducted, considering gender, bimodal age groups, place of residence, offender data, place of occurrence, aetiology, localization, type of injuries, personal injury assessment by Quantum doloris, and injury time. The statistical analysis was performed by Spearman’s rho and Kendall’s tau-b correlation tests, Pearson’s chi-square test of independence (χ2), and Mann Whitney and Kruskal–Wallis nonparametric tests (P < 0.05). The relationship between age groups and the place of occurrence was statistically significant (P = 0.001). Orofacial and non-orofacial injuries were related (P = 0.035). The General Data Protection Regulation is not a barrier to the treatment and sharing of justified data but a framework for safeguarding individuals’ fundamental rights, including the Right to Health. Meticulous reporting of the clinical situation involves the victim, the occurrence, and the potential offender. Key points: • An oral health professional’s notification of the event is a fundamental step of the judicial process. • The timeline is the core of traumatic injury assessment in a child physical abuse scenario. • Medicolegal evaluation impacts disability prevention, imputability, and notification of the crime.
- Population of Northern Portugal: study of genetic diversity and forensic parameters of 26 Y-STR markersPublication . Maia, Bárbara; Souto, Luís; Fadoni, Jennifer; Cainé, Laura; Amorim, AntónioShort tandem repeats (STRs) are highly variable sequences present along the human genome, including the Y-chromosome. Y-STRs are exclusive to males, and the haplotypes they define are informative. Objectives: Twenty-six Y-STR loci were genotyped in 252 males from Northern Portugal to characterise Y-chromosome genetic variation using the Investigator Argus Y28 QS Kit. Methods: The kit mentioned was used to amplify male DNA samples, and capillary electrophoresis was used to analyze the fragments. Forensic parameters and haplotype diversity were computed, and samples’ haplogroups were predicted. A multidimensional scaling (MDS) plot was used to graphically represent the RST genetic distances, including reference populations. Results: A total of 250 different haplotypes were observed, including 248 unique ones, yielding a very high haplotype diversity (HD = 0.999) and discriminatory power (DP = 0.992). Haplogroup analysis indicated a predominance of R1b (58.7%), followed by E1b1b, I and J, pointing to a population history shaped by Mediterranean and North African gene flow. Comparative analysis between Portugal and 5 other populations showed greater genetic affinity with Spain and Italy, while revealing marked differentiation from Greece, Morocco, and former Portuguese colonies. Conclusions: The results confirm that the Northern Portuguese Population exhibits high Y-STR variability and robust forensic resolution. The dataset was submitted to the YHRD database, enhancing the representation of the Portuguese population and underscoring the value of the 26 locus panel for applications in forensic science, genealogy, and population genetics.
- External causes of death in younger than 18 years old in Portugal in the last 10 years - a retrospective analysis.Publication . Gomes, Carlota Jardim; Heitor, Marta; Albuquerque, Joana; Inácio, Ana RitaPediatric mortality from external causes has been a worldwide concern in the last decades. In particular, the prevalence of accidental deaths is a key concern, especially traffic accidents. This is retrospective study based on autopsy reports of violent deaths in individuals younger than 18 years from 2014 to 2023 in Portugal, aimed at providing valuable insight in order to help formulate preventive strategies. There were 554 pediatric deaths due to exogenous causes, with a predominance of males (68,95%). Adolescents were the most prevalent age group. The leading cause of death was land transport injury (38,27%). Asphyxia-related deaths were predominant in younger age groups. Accidental deaths accounted for 76,71% of all cases. Preventable injury-related causes continue to be a major contributor to child mortality. The inconsistent mortality rates from various mechanisms emphasize the necessity for targeted and effective preventive measures. Above all, land transport accidents seem to be an issue in need of prompt intervention.
- Missing persons response: national programs and global cooperation in Brazil’s migration contextPublication . Minervino, Aline; Amorim, António; Corte Real, F.; Cainé, LauraThe search and identification of missing persons represent a pressing global issue with profound humanitarian, legal, and institutional implications. This study presents an illustrative documentary review of MP/UHR identification initiatives in countries selected for their migration-related links to Brazil and their relevance to transnational DNA cooperation (Brazil, Portugal, Spain, France, the United Kingdom, the United States, Canada, Mexico, and Belgium). Grounded in the United Nations guidelines and using peer-reviewed literature, official reports, and documentation from international organizations, the analysis examine how forensic genetics is integrated into MP/UHR workflows, the legal and governance frameworks that enable or constrain the processing of relatives’ reference profiles, and the operational arrangements that support cross-border exchange. The synthesis indicates that identification outcomes depend not only on laboratory capacity, but also on institutional coordination and the linkage of ante-mortem and post-mortem data. The study also describes international mechanisms such as INTERPOL’s I-Familia database, and humanitarian identification platforms. Although these tools show great potential, their effectiveness is limited due to inconsistent adoption across countries and variations in national protocols. The identification of missing persons must be approached as a shared international responsibility, requiring cooperation in science, law, and policy to ensure dignity, truth, and justice for families of the missing.