Browsing by Author "Santos, Jorge Costa"
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- Age estimation of unaccompanied minors: A portuguese overviewPublication . Pereira, Cristiana Palmela; Escobar, Catarina Pereira; Santos, Jorge Costa"In the past decade there has been a considerable increase in the number of unaccompanied asylum seeking children, many of whom appeared to be older than their given age. Dental age assessment has been included as part of the asylum seeking process in Portugal since the Law n. º 27/2008 dated 30 June (the “Asylum Law”). The legal framework of the forensic examination is based in biomedical ethics. The aim is to find the frequency of unaccompanied asylum seeking children with dental evidence of being older 18 years during the period between 2009 and 2013. In this period age estimations have been performed on 82 unaccompanied asylum seeking children whose given ages were queried by the Aliens and Bored Service – SEF, to the South Branch of National Institute of Legal Medicine and Forensic Sciences from Portugal. The dental development was studied on ortopantomograpic radiographs and the developing teeth staged from the tables according to Liversidge (2008), Mincer et al. (1993), Kullmanet al. (1992) and Haavikko (1970). If the dental development was complete, the dental age was estimated from Kvaal et al. (1995). The majority of the unaccompanied asylum seeking children clamed to came from Guinea Conakry, Nigeria, Guinea Bissau, Syria, Congo, Morocco and other African countries and non-African countries. There was no statistical significant difference between sexes. The majority gave the age as being 14 or 15 years (70%). Forty percent were found to be 18 years or older by the dental methods. Fifty percent were in need of dental treatment."
- Analysis of 17 STR data on 5362 southern Portuguese individuals—an update on reference databasePublication . Silva, Raquel Cabezas; Ribeiro, Teresa; Lucas, Isabel; Porto, Maria João; Santos, Jorge Costa; Dario, PauloThe main objective of this work consisted of the updating of allele frequencies and other relevant forensic parameters for the 17 autosomal STR loci provided by the combination of the two types of kits used routinely in our laboratory casework: AmpF/STR Identifiler® and the Powerplex® 16 Systems. This aim was of significant importance, given that the last study on these kits within the southern Portuguese population dates back to 2006, and, as a consequence, it was necessary to correct the deviation caused by population evolution over the last ten years so that they might be better applied to our forensic casework. For this reason genetic data from 5362 unrelated Caucasian Portuguese individuals from the south of Portugal who were involved in paternity testing casework from 2005 to 2014 was used. Of all the markers, TPOX proved to be the least polymorphic, and Penta E the most. Secondly, this up-to-date southern Portuguese population was compared not only with the northern and central Portuguese populations, but also with that of southern Portugal in 2006, along with populations from Spain, Italy, Greece, Romania, Morocco, Angola and Korea in order to infer information about the relatedness of these respective populations, and the variation of the southern Portuguese population over time.
- O anunciado DSM-5: que implicações em Psiquiatria Forense?Publication . Fernandes, Susana; Leite, Edna; Vieira, Fernando; Santos, Jorge Costa"Introdução: Em 10 de Fevereiro de 2010, a American Psychiatric Association publicou online a versão preliminar (draft) da quinta edição do Manual de Diagnóstico e Estatística das Perturbações Mentais (Diagnostic and Statistical Manual of Mental Disorders), que, à semelhança das edições anteriores, depois de ter acolhido comentários e contribuições diversas, esteve sujeita, durante os dois anos seguintes, a um escrutínio técnico e científico, e, naturalmente, a alterações e revisões suscetíveis de conduzirem a uma versão final melhorada. Material e Métodos: Este artigo visa analisar as alterações propostas por esta nova revisão, averiguar se estas têm implicações no domínio da Psiquiatria Forense e discutir as implicações identificadas. Discussão: Nesta perspetiva, constituem objeto de análise as questões relacionadas com a classificação e estruturação das entidades nosológicas, com especial enfoque nas perturbações da personalidade, perturbações de abuso de substâncias, perturbações sexuais e da identidade de género, perturbações de ansiedade, perturbações dissociativas, perturbações psicóticas e, ainda, perturbações sugeridas por fontes externas. Conclusão: As principais alterações propostas têm a ver essencialmente com os critérios de diagnóstico, que, relativamente a algumas das entidades nosológicas, poderão dificultar o resultado da avaliação pericial, enquanto em relação a outras poderá verificar-se o contrário, uma vez que a introdução de novos modelos de aproximação à realidade parece oferecer uma maior objetividade e rigor diagnósticos."
- Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese populationPublication . Dario, Paulo; Mouriño, Helena; Oliveira, Ana Rita; Lucas, Isabel; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Dias, Deodália; Real, Francisco Corte"DNA phenotyping research is one of the most emergent areas of forensic genetics. Predictions of externally visible characteristics are possible through analysis of single nucleotide polymorphisms. These tools can provide police with “intelligence” in cases where there are no obvious suspects and unknown biological samples found at the crime scene do not result in any criminal DNA database hits. IrisPlex, an eye color prediction assay, revealed high prediction rates for blue and brown eye color in European populations. However, this is less predictive in some non-European populations, probably due to admixing. When compared to other European countries, Portugal has a relatively admixed population, resulting from a genetic influx derived from its proximity to and historical relations with numerous African territories. The aim of this work was to evaluate the utility of IrisPlex in the Portuguese population. Furthermore, the possibility of supplementing this multiplex with additional markers to also achieve skin color prediction within this population was evaluated. For that, IrisPlex was augmented with additional SNP loci. Eye and skin color prediction was estimated using the multinomial logistic regression and binomial logistic regression models, respectively. The results demonstrated eye color prediction accuracies of the IrisPlex system of 90 and 60 % for brown and blue eye color, respectively, and 77 % for intermediate eye color, after allele frequency adjustment. With regard to skin color, it was possible to achieve a prediction accuracy of 93 %. In the future, phenotypic determination multiplexes must include additional loci to permit skin color prediction as presented in this study as this can be an advantageous tool for forensic investigation."
- Estudo dos marcadores genéticos dos sistemas CODIS e ESS numa população de indivíduos provenientes de Cabo Verde residente em LisboaPublication . Resende, Ana; Amorim, António; Silva, Cláudia Vieira da; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Costa, Heloísa Afonso
- Genetic portrait of Lisboa immigrant population from Angola with mitochondrial DNAPublication . Simão, Filipa; Costa, Heloísa Afonso; Silva, Cláudia Vieira da; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Amorim, António"Portugal has been considered a country of emigrants, nevertheless in the past decades the number of immigrants has grown throughout all the country. This migratory flux has contributed to a raise of heterogeneity at multiple levels. According to statistical data, at the end of 2012 the total number of Angolan immigrants in Portugal equalled about 20,000 individuals. A territorial predominance has been found for the metropolitan region of Lisboa. Angola is a country located in the Atlantic coast of Africa. The presence of Bantu people and the colonisation by Portuguese people on Angolan territory are considered to be the major modulators of the genetic patterns in Angola. Mitochondrial DNA is known for its features that enable an approach to the study of human origin and evolution, as well to the different migration pathways of populations. This genetic marker can also contribute to ascertaining the identity of individuals in forensic cases. The main aim of this study was to determine the genetic structure of the Angolan immigrant population living in Lisboa. Therefore, a total of 173 individuals, inhabitants in Lisboa, nonrelated and with Angolan ancestry were studied. Total control region of mitochondrial DNA was amplified from position 16,024 to position 576 using two pairs of primers - L15997/H016 and L16555/H639. The majority of the identified haplotypes belong to mtDNA lineages known to be specific of the sub-Saharan region. Our results show that this immigrant population inhabitant in Lisboa presents a genetic profile that is characteristic of African populations. This study also demonstrates the genetic diversity that this immigrant population introduces in Lisboa. This does not contradict the historical data concerning colonization of Angola, since this was made mainly by male European individuals, who did not contribute with their maternal information of mtDNA. Lisboa immigrant population from Angola can be accessed via EMPOP dataset with accession number EMPOP662."
- Genetic portrait of Lisboa immigrant population from Cabo Verde with mitochondrial DNA analysisPublication . Morais, Paulo; Amorim, António; Silva, Cláudia Vieira da; Ribeiro, Teresa; Santos, Jorge Costa; Costa, Heloísa Afonso"The aims of this study were (i) to enrich mtDNA global database, (ii) obtainment of the mtDNA variability of the Cabo Verde population living in Lisboa to complement previous studies by our group using STR genetic markers (Amorim et al. 2012; Afonso Costa et al. 2014), (iii) assign haplotypes to designated haplogroups, (iv) infer whether there are genetic proximity between the studied population and previous studies according to the mtDNA profile of the Cabo Verde population, and (v) compare the studied population with other African populations, with the aim to bring more light to our understanding on the subject of the impact of migrations involving Cabo Verde archipelago’s origin."
- Relevance and coherence as measures of quality in forensic psychological reportsPublication . Guerreiro, João da Silva; Casoni, Dianne; Santos, Jorge Costa"The goal of this research is to provide a general portrait of forensic psychological reports under the Portuguese justice system. An analysis of 106 reports in terms of their relevance and coherence was conducted since these two dimensions appear to be key to better understanding some of the specific characteristics related to the overall quality of forensic psychological reports. A grid was constructed to identify elements related to these two dimensions and its application show that, while mostly meeting formal characteristics such as adequate organization, most of the reports surveyed fell short of meeting the criteria defining relevance and coherence. Results suggest that research on the quality of forensic psychological reports should direct more attention to the internal coherence of the reports and to the importance of reporting on assessment findings that regard the uniqueness of assessees in view of optimizing reports’ role as informational support for legal decision-making."
- Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadolPublication . Fonseca, Suzana; Amorim, António; Costa, Heloísa Afonso; Franco, João; Porto, Maria João; Santos, Jorge Costa; Dias, MárioTramadol concentrations and analgesic effect are dependent on the CYP2D6 enzymatic activity. It is well known that some genetic polymorphisms are responsible for the variability in the expression of this enzyme and in the individual drug response. The detection of allelic variants described as non-functional can be useful to explain some circumstances of death in the study of post-mortem cases with tramadol. A Sanger sequencing methodology was developed for the detection of genetic variants that cause absent or reduced CYP2D6 activity, such as *3, *4, *6, *8, *10 and *12 alleles. This methodology, as well as the GC/MS method for the detection and quantification of tramadol and its main metabolites in blood samples was fully validated in accordance with international guidelines. Both methodologies were successfully applied to 100 post-mortem blood samples and the relation between toxicological and genetic results evaluated. Tramadol metabolism, expressed as its metabolites concentration ratio (N-desmethyltramadol/O-desmethyltramadol), has been shown to be correlated with the poor-metabolizer phenotype based on genetic characterization. It was also demonstrated the importance of enzyme inhibitors identification in toxicological analysis. According to our knowledge, this is the first study where a CYP2D6 sequencing methodology is validated and applied to post-mortem samples, in Portugal. The developed methodology allows the data collection of post-mortem cases, which is of primordial importance to enhance the application of these genetic tools to forensic toxicology and pathology.
- Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in LisboaPublication . Inácio, Ana; Costa, Heloísa Afonso; Silva, Cláudia Vieira da; Ribeiro, Teresa; Porto, Maria João; Santos, Jorge Costa; Igrejas, Gilberto; Amorim, AntónioThe migratory phenomenon in Portugal has become one of the main factors for the genetic variability. In the last few years, a new class of autosomal insertion/deletion markers—InDel—has attracted interest in forensic genetics. Since there is no data for InDel markers of Portuguese-speaking African countries (PALOP) immigrants living in Lisboa, our aim is the characterization of those groups of individuals by typing them with at least 30 InDel markers and to compare different groups of individuals/populations. We studied 454 bloodstain samples belonging to immigrant individuals from Angola, Guinea-Bissau, and Mozambique. DNA extraction was performed with the Chelex® 100 method. After extraction, all samples were typed with the Investigator® DIPplex method. Through the obtained results, allelic frequencies show that all markers are at Hardy-Weinberg equilibrium, and we can confirm that those populations show significant genetic distances between themselves, between them, and the host Lisboa population. Because of this, they introduce genetic variability in Lisboa population.