INMLCF - Artigos Científicos
URI permanente para esta coleção:
Navegar
Entradas recentes
- 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.
- Opioid detection and quantification in plasma and oral fluid by LC-MS/MS.Publication . Rosendo, Luana M; Costa, Suzel; Simões, Susana; Franco, João; Serrano Gadea, Noelia; Escorial, Mónica; Toboso Ortega, Francisco Javier; Jiménez-García, Segundo; Peiró, Ana M; Duque, Isabel; Rosado, Tiago; Barroso, Mário; Gallardo, EugeniaThe opioid crisis remains a significant public health concern, necessitating the development of sensitive and reliable analytical methods for drug detection. This study aimed to develop and validate a liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the simultaneous detection and quantification of fentanyl, buprenorphine, oxycodone, morphine, tramadol, and tapentadol in plasma and oral fluid. The method was validated according to FDA guidelines, assessing selectivity, linearity, precision, accuracy, matrix effect, extraction efficiency, stability, carryover, and dilution integrity. The lower limits of quantification (LLOQs) were established at 0.1 ng/mL for fentanyl, 1.2 ng/mL for tramadol, and 0.6 ng/mL for the remaining opioids, demonstrating high sensitivity. The method exhibited excellent precision and accuracy, with coefficients of variation below 15% for intra-day, inter-day, and intermediate precision analyses. Extraction efficiencies exceeded 90% for most analytes, and matrix effects remained within acceptable limits. Real-world application to authentic plasma and oral fluid samples confirmed the method's robustness and reliability. Oral fluid concentrations were detectable across all target opioids, although plasma-oral fluid ratios showed some compound-dependent variability. These findings highlight the potential of oral fluid as a non-invasive complementary matrix to plasma for opioid monitoring, with relevant implications for forensic toxicology and clinical drug monitoring.
- Procedimentos técnicos, éticos e legais da competência do médico no cumprimento da lei da fiscalização da condução rodoviária sob influência do álcool e substâncias psicotrópicasPublication . Dinis-Oliveira, Ricardo Jorge; Nunes, Rui; Carvalho, Félix; Santos, Agostinho; Teixeira, Helena M.; Vieira, Duarte Nuno; Salgado de Magalhães, Teresa MariaA toxicologia forense é uma ciência de características essencialmente analíticas que tem como objectivo esclarecer sobre questões judiciárias e judiciais que possam estar relacionadas com intoxicações e suas potenciais consequências, fatais ou não fatais, no âmbito dos diversos domínios do Direito (Penal, Civil, do Trabalho, ou outros). Entre o tipo de perícias toxicológicas que mais vezes são solicitadas (e que revelam tendência crescente) estão as que dizem respeito aos procedimentos relacionados com a fiscalização da condução rodoviária sob influência do álcool e de substâncias psicotrópicas no vivo e no cadáver. São peças chave em todo este sistema: (a) as entidades fiscalizadoras que procedem ao rastreio e quantificação do álcool no ar expirado e ao rastreio de substâncias psicotrópicas na saliva; (b) os serviços públicos de saúde que procedem ao rastreio de substâncias psicotrópicas na urina (quando não é realizado na saliva); (c) o médico que colhe as amostras de sangue, no vivo ou no cadáver; (d) o toxicologista forense que realiza a análise toxicológica no sangue (ou, eventualmente, noutra amostra biológica); (e) os magistrados do ministério público que, em última estância, irão receber o relatório toxicológico para fundamentação de uma eventual decisão judicial. Sendo assim é importante conhecer a Lei da Fiscalização Rodoviária sob Influência do Álcool e de Substâncias Psicotrópicas, designadamente no que ao papel do médico diz respeito. Por conseguinte, é objectivo deste trabalho proceder a uma revisão destes tópicos fornecendo os elementos necessários tendo em vista o esclarecimento dos interessados sobre os procedimentos que devem considerar ao nível técnico, ético e legal.
- Where the public health principles meet the individual: a framework for the ethics of compulsory outpatient treatment in psychiatryPublication . Martinho, Sérgio M.; Santa-Rosa, Bárbara; Silvestre, MargaridaBackground Compulsory treatments represent a legal means of imposing treatment on an individual, usually with a mental illness, who refuses therapeutic intervention and poses a risk of self-harm or harm to others. Compulsory outpatient treatment (COT) in psychiatry, also known as community treatment order, is a modality of involuntary treatment that broadens the therapeutic imposition beyond hospitalization and into the community. Despite its existence in over 75 jurisdictions worldwide, COT is currently one of the most controversial topics in psychiatry, and it presents significant ethical challenges. Nonetheless, the ethical debate regarding compulsory treatment almost always stops at a preclinical level, with the different ethical positions arguing for or against its use, and there is little guidance to support for the individual clinicians to act ethically when making the decision to implement COT.
- Miniaturised extraction techniques in personalised medicine: analytical opportunities and translational perspectives.Publication . Rosendo, Luana M; Rosado, Tiago; Barroso, Mário; Gallardo, EugeniaMiniaturised sampling and extraction are redefining therapeutic drug monitoring (TDM) by enabling low-volume sampling, simplifying collection, and improving patient acceptability, while also promoting decentralised workflows and more sustainable laboratory practices. This review critically appraises the current landscape, with emphasis on analytical performance, matrix compatibility, and readiness for clinical implementation. It examines validation requirements, the extent of alignment and existing gaps across major regulatory guidelines, and recurrent challenges such as haematocrit bias, real-world stability and transport, incurred sample reanalysis, device variability, commutability with conventional matrices, and inter-laboratory reproducibility. To make the evidence actionable, operational recommendations are distilled into a practical ten-point checklist designed to support validation and translation of miniaturised approaches into routine laboratory practice. Looking ahead, priorities include automation and portable platforms, advanced functional materials, and integration with digital tools and biosensors, alongside the development of harmonised frameworks tailored to miniaturised methods and prospective clinical studies that demonstrate impact on dosing decisions, adherence, and clinical outcomes. Overall, this review aims to equip researchers, laboratory professionals, and regulators with the knowledge to implement miniaturised bioanalysis and advance personalised medicine through TDM.
- Dried matrix spots for the determination of opiates and opioids: Methodological advances and applications.Publication . Rosendo, Luana M; Gonçalves, Rita; Martins, Rodrigo; Castro, Vitória; Rosado, Tiago; Barroso, Mário; Gallardo, EugeniaDried matrix spot (DMS) techniques have gained increasing attention in bioanalytical and forensic toxicology for the detection of opiates and opioids, offering minimally invasive sampling, enhanced sample stability, and simplified storage and transport. This review provides a critical overview of recent methodological advances and applications of DMS across multiple biological matrices, including blood, plasma, urine, and oral fluid. Particular focus is given to sample preparation protocols, extraction strategies, analytical instrumentation, and method performance. Dried blood spots (DBS) remain the most established format; however, alternative matrices such as dried plasma, urine, and saliva spots (DPS, DUS, DSS) are expanding the scope of DMS, particularly in decentralised and point-of-care contexts. Despite clear advantages, such as reduced biohazard risk and compatibility with high-throughput workflows, several limitations persist, including low sample volumes, matrix-specific recovery issues, and lack of standardised procedures. Future efforts should aim to optimise paper substrates, improve solvent-matrix compatibility, and integrate DMS workflows with automated or miniaturised mass spectrometry platforms. Overall, DMS techniques represent a versatile and evolving analytical platform with strong potential for reliable opioid monitoring in both clinical and forensic settings.
- Detection and intervention strategies by primary health care professionals in suspected elder abusePublication . Ferreira, Mafalda; Santos, César Lares dos; Vieira, Duarte NunoIntroduction: Primary health care professionals are in a privileged position to recognize and manage cases of suspected elder abuse. The purpose of this study was to provide some insight of these professionals’ views and knowledge on this subject. Material and Methods: A questionnaire was elaborated and sent to physicians and nursing staff practicing in 12 different health care units in Coimbra. The data collected included parameters related to demography, perception of abuse and management strategies, personal experience and training on this subject. Results: The global response rate was 67.9% corresponding to 127 validated questionnaires. From the results found, we highlight the following: there was a significant contact between these professionals and older people; most (64.6%) considered the abuse as more prevalent in the familiar context and 32.3% signed negligence as the most common type; the majority of professionals considered themselves as useful (97.6%); the uncertainty in the diagnosis was one of the most important causes for non-reporting; there were doubts concerning mandatory report of abuse to judicial authorities. It was also found that 87.4% of the respondents stated they would feel more comfortable having formal protocol to handle these cases and this subject was not included in the training curriculum of 70.9% of the respondents. Discussion: The significant contact between older population and health care professionals allows for an early diagnose and intervention. The professionals showed knowledge in accordance to some studies, namely, as to the context and prevalence of abuse. Doubts as to the best way to manage these cases could be solved by implementing protocols and by specific training, which is a fundamental cornerstone for preparing professionals to deal with these kind of cases. Conclusion: Health care professionals seemed to be aware of the relevance of elder abuse, as well as the importance of their role in preventing and diagnosing these abuses. However, a more extensive approach on this subject during clinical training and the definition of general clinical guidelines are important to increase the professionals’ confidence in managing suspected cases.
- Chromatographic determination of antidepressants in plasma and saliva: Towards non-invasive therapeutic monitoringPublication . Soares, Sofia; Rosendo, Luana; Fonseca, Suzana; Gonçalves, Nuno; Franco, João; da Costa, António Pissarra; Rosado, Tiago; Barroso, Mário; Santos, Vítor Hugo; Rei, Cristina; Amantegui, Patricia; Chaves, Telma; Valente, Rita; Duarte, Fábio; Pacheco, Susana; Martins, Marco; Dias, Kátia; Costa, Patricia; Costa, Rui; Castro, Sílvia; Sousa, Diana; Figueiredo, Diana; Soares, Isabel; Mouta, Salomé; Jesus, Bianca; Pires, Ana; Ribeiro, Cândida; Lobo, Sónia; Correia, Leonor; Malés, Sofia; Vale, Fátima; Moita, Carina; Moura, Carolina; Sousa, Joana; Afonso, Luís Rafael; Costa, Rita Santinho; Gallardo, EugeniaDrug monitoring of antidepressants in plasma and oral fluid represents a valuable tool in clinical practice, enabling the optimisation of treatment efficacy and the reduction of adverse effects. Given the significant interindividual variability in antidepressant response-driven by factors such as metabolism, drug-drug interactions, and adherence to therapy-drug monitoring facilitates dose adjustment based on measured drug concentrations, ensuring levels remain within the therapeutic window. This study aimed at developing and validating a robust, rapid, and sensitive method for the simultaneous quantification of 21 selected antidepressants and their metabolites in only 100 μL of plasma and oral fluid. Sample preparation was performed using a simple protein precipitation protocol, followed by analysis via liquid chromatography-tandem mass spectrometry (LC-MS/MS). The method was validated in accordance with internationally accepted bioanalytical guidelines, demonstrating linearity over the concentration range of 0.98-1000 ng/mL. Limits of quantification were established at 0.98 ng/mL for all analytes across both matrices. The extraction procedure yielded high recovery rates, and the method showed excellent selectivity, sensitivity, precision, and accuracy, confirming its suitability for routine toxicological applications. The validated method was successfully applied to 142 paired authentic plasma and oral fluid specimens from patients undergoing antidepressant therapy. Antidepressant concentrations were determined in both matrices, and treatment adherence was considered high, being confirmed in 88.7 % of patients. Correlation analysis between plasma and oral fluid concentrations produced promising results for several of the compounds under investigation, reinforcing the potential utility of oral fluid as a non-invasive alternative matrix in drug monitoring.