Study of genetic markers of CODIS and ESS systems in a population of individuals from Cabo Verde living in Lisboa.

Twenty-two autosomal short tandem repeats included in the PowerPlex® Fusion System Amplification kit (Promega Corporation) were genotyped in a population sample of 500 unrelated individuals from Cabo Verde living in Lisboa. Allelic frequency data and forensic and statistical parameters were calculated and evaluated in this work. The genetic relationship among immigrant population from Cabo Verde living in Lisboa and other populations, such as Brazilian and Angola immigrants living in Lisboa; Afro-Americans, Caucasians, Hispanics and Asians living in the USA and the population from Lisboa was assessed, and a multidimensional scaling plot was drown to show these results.

Assessment of IrisPlex-based multiplex for eye and skin color prediction with application to a Portuguese population.

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.

X-chromosome STR markers data in a Cabo Verde immigrant population of Lisboa.

Population genetic data of 12 X chromosomal short tandem repeats markers (DXS10074, DXS10079, DXS10101, DXS10103, DXS10134, DXS10135, DXS10146, DXS10148, DXS7132, DXS7423, DXS8378 and HPRTB) were analysed in 54 females and 95 males of an immigrant population from Cabo Verde living in Lisboa. The obtained results for forensic statistical parameters such as observed heterozigosity, polymorphism information content, power of discrimination and mean exclusion chance, based on single allele frequencies, reveal that this multiplex system is highly informative and can represent an important tool for genetic identification purposes in the immigrant population of Cabo Verde. Since the studied short tandem repeats genetic markers are distributed on four linkage groups, that can provide independent genotype information, we studied those groups as haploytes. The forensic efficiency parameters for the linked groups were all higher than 0.97, with linkage group I being the most polymorphic and linkage group III the less informative.

Reconsidering the ethics of compulsive treatment in light of clinical psychiatry: A selective review of literature.

The ethics of compulsive treatment (CT) is a medical, social and legal discussion that reemerged after the ratification by 181 countries of the 2007 United Nations Convention on the Rights of Persons with Disabilities (UN-CRPD). The optional protocol of the UN-CRPD was ratified by 86 countries aiming to promote, protect and ensure the full and equal enjoyment of all human rights. It also determined the need to review mental health laws as under this light treatment of persons with disabilities, particularly those with mental disorders, cannot accept the use of CT. This selective review of literature aims to clarify inputs from clinical psychiatry adding evidence to the multi-disciplinary discussion. It focuses on how patients experience CT and its impact on their mental health and treatment programs, the reasons for the use of CT versus voluntary treatment and what efforts have been made to reduce, replace and refine the presence of CT in psychiatry.

Analysis of 17 STR data on 5362 southern Portuguese individuals-an update on reference database.

The 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.

Population data of the GlobalFiler(®) Express loci in South Portuguese population.

Allele frequencies and other relevant forensic parameters for 21 loci studied with GlobalFiler(®) Express amplification kit (Life Technologies) were calculated in a population of individuals residing in the south of Portugal. Blood stain samples were obtained from a total of 502 unrelated individuals involved in paternity testing casework and directly PCR amplified with GlobalFiler(®) Express following manufacturer's instructions. This kit comprises all the loci included in the extended European Standard Set (ESS) and in the Combined DNA Index System (CODIS), besides the very polymorphic D2S441, D19S433, and SE33. In our laboratory this is used as a screening tool to solve complex cases, as fatherless paternity tests or to help in paternity investigations where there is the need to study additional genetic markers. These studies are necessary to calculate statistical forensic parameters, such as power of discrimination or as power of exclusion. Statistical parameters including heterozigosity, homozigosity and combined power of exclusion were estimated.

[The disclosed DSM-5: what impact will it have on forensic psychiatry?]. / O anunciado DSM-5: que implicações em psiquiatria forense?

INTRODUCTION: On 10 February 2010, the American Psychiatric Association published an online draft of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders, which, like the previous editions, after having received several comments and contributions, was subject during the next following years, to the technical and scientific scrutiny, and, of course, susceptible to modification leading to a final improved version. MATERIAL AND METHODS: This article aims to analyze the changes proposed by this new review, investigate whether these have implications in the field of Forensic Psychiatry and discuss the implications identified. DISCUSSION: In this perspective, the object of analysis are issues related to the classification and structuring of nosological entities, with special focus on personality disorders, substance abuse disorders, sexual and gender identity disorders, anxiety disorders, dissociative disorders, psychotic disorders and also disorders suggested by external sources. CONCLUSION: the main changes proposed are essentially about diagnostic criteria, which, for some of nosological entities, may hinder the outcome of the expert assessment, while for others there could be otherwise, since the introduction of new models closer to reality appears to offer greater objectivity and diagnostic rigor.

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.

Population data of the AmpFlSTR® NGM™ loci in South Portuguese population.

Allele frequencies and other relevant forensic parameters for 15 loci studied with AmpFlSTR(R) NGM™ kit were calculated in a population of individuals residing in the south of Portugal. Blood stain samples were obtained from a total of 452 unrelated individuals involved in paternity testing casework. The kit has five loci - D10S1248, D22S1045, D2S441, D1S1656 and D12S391 not present in any other kit used in our laboratory (Powerplex 16 System and Identifiler Plus). In our laboratory, this new kit is used as a screening tool to solve deficient cases as fatherless paternity test, and to help in paternity investigations with only one genetic incompatibility after the use of routine seventeen loci. Furthermore, this five loci included in the European Standard Set are also recommended by the European Network of Forensic Science Institutes "ENFSI" and the European DNA Profiling group "EDNAP". These studies are necessary to calculate statistical forensic parameters such as power of discrimination, power of exclusion, minimum allele frequency. Statistical parameters such as heterozigoty, homozigoty and combined power of exclusion were determinated. This kind of study is part of the Quality Program for Certificated Forensic Laboratories.

[Attention-deficit hyperactivity disorder in adults: implications to forensic medicine]. / Perturbação de hiperactividade e défice de atenção em adultos: implicações médico-legais.

Attention-deficit hyperactivity disorder (ADHD) in adults has been associated to a higher probability of problems with justice. Studies in prison populations disclosed higher prevalence of this disturbance. ADHD association with personality disorders and higher substance abuse could partially help in the explanation of this phenomenon. Based in a literature review, the authors present a reflection on the possible implications of the ADHD diagnosis to Forensic Medicine. After a brief review of the clinical aspects, epidemiology, etiology and nosology of ADHD, its repercussions in the sphere of justice are analysed, namely the prevalence of associated criminality, risk factors and the co-morbidity with personality disorders and substance abuse. These elements are used as a base to the discussion of the results and to a subsequent reflection on the question of (in)imputability related with this disorder.

[Training in forensic psychiatry: comparative issues towards a rethinking of the Portuguese model]. / Formação em psiquiatria forense: aspectos comparativos para uma reflexão sobre o modelo Português.

BACKGROUND AND AIMS: Forensic psychiatry has experienced a significant development in the last few decades. Several mechanisms underlie this shift, including deinstitutionalization of mental health patients and extraordinary progress in neurosciences, imaging technologies and psychology, just no name a few. This development has put in evidence specific needs for training and education. A review and comparison of forensic psychiatry training in several European countries, U.S.A. and Brazil is made. METHODS: A mixed approach was used, including a) systematic literature review (Pubmed search, 1989-2009) and cross-reference search and inclusion; b) specific online sites search (e.g. medical associations or scientific societies responsible for forensic psychiatry training); c) direct contact with psychiatrists and forensic psychiatrists. RESULTS AND CONCLUSIONS: Forensic psychiatry training is still a heterogeneous field. While not all countries have specialization, subspecialization or competency certification in forensic psychiatry, there has been, however, a definite shift towards its individuation as a specific technico-scientific area. This contributes to an improvement in quality standards and promotes research. Notwithstanding, forensic training in general adult and child psychiatry's residencies should continue to be strengthened as it is likely that most forensic activities will remain at their care in the near future.