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- Analysis of 17 STR data on 5362 southern Portuguese individuals-an update on reference databasePublication . Cabezas Silva, Raquel; Ribeiro, Teresa; Lucas, Isabel; Porto, Maria João; Costa Santos, Jorge; 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.
- Psychopathology of aggressors in intimate partner violencePublication . Leitão, Catarina; Graça, Olindina; Vieira, Fernando; Costa Santos, JorgeDespite the decreasing of the overall crime in Portugal indicated by official statistics, the same is not true with domestic violence. Most interventions are directed towards the treatment and support of victims, so therefore, there is a very short knowledge about the characteristics of aggressors, both in the context of domestic violence, as in intimate relationships in particular, especially with regard to the existence of psychopathology or mental illness. This work aims to identify mental disorders (personality disorders or mental illness) associated with such conduct, with respect to the aggressor. A research was performed in the PubMed, PsycINFO and Index databases and nineteen expert reports of aggressors, in the context of domestic violence conducted in the Clinical Forensic South Delegation of the National Institute of Legal Medicine and Forensic Sciences, were analyzed. The majority of these cases fulfills the diagnostic criteria for personality disorder, the most prevalent being the borderline type, or has a high rating in certain pathological traits.Therefore, it seems important to develop domestic violence prevention programs, including signaling and an assessment of the aggressors at the earliest possible stage, followed by a specialized intervention aimed at their rehabilitation and prevention of violent behavior.
- Population Genetic Data for F13A01, FES/FPS, F13B and LPL in the South Portuguese PopulationPublication . Vieira da Silva, Cláudia; Amorim, António; Afonso Costa, Heloísa; Espinheira, Rosa; Costa Santos, JorgeDNA parentage testing is currently performed using several highly polymorphic short tandem repeats (STRs). In our routine casework, we apply two validated STRs kits, in order to have results in the 13 codis loci plus D2S1338, D19S433, PENTA E, PENTA D, and Amelogenin. In complex and deficient paternity cases it is often necessary to increment the number of studied STRs. For this reason, we introduced in our laboratory GenePrint® FFFL Multiplex kit, which can provide results in F13A1, FES/FPS, F13B, and LPL using the GenePrint® FFFL System (Promega, USA) kit. In this study, we analyzed 150 unrelated and healthy individuals from the south Portugal population. Allele frequencies and statistical parameters were estimated with Arlequin 3.5.1.2. Paternity Statistics were calculated using software package PowerStats v12. The forensic efficiency values suggested that loci F13A01, FES/FPS, F13B, and LPL are discriminative and very useful to solve complex forensic casework, and should be added to the set of STRs loci routinely used in Forensic laboratories. In conclusion, an additional 4 loci dataset was established for the south Portuguese population, which can be used for both forensic casework and complex kinship testing
- Particular physical characteristics – a clinical case of Van der Woude Syndrome (poster)Publication . Costa Lopes, Miguel; Gallo, Filipa; Costa Santos, Jorge
- Uma década de neonaticídios na Grande LisboaPublication . Câmara, Catarina Klut; Graça, Olindina; Costa, Tiago; Costa Santos, JorgeO neonaticídio corresponde ao homicídio de uma criança durante as primeiras 24 horas de vida. Neste trabalho procurou-se caracterizar casos de neonaticídio ocorridos na área da Grande Lisboa, através de um estudo retrospetivo de todos os processos investigados na Delegação do Sul do Instituto Nacional de Medicina Legal e Ciências Forenses, I.P. (INMLCF), entre 1 de janeiro de 2001 e 31 de dezembro de 2010. Identificaram-se cinco casos de neonaticídio (2.96 por 100000 nados-vivos), atribuíveis a cinco mães com uma idade média de 25 anos, cuja principal motivação foi a gravidez indesejada. Em todos os casos, a gravidez foi ocultada, evoluiu sem cuidados médicos pré-natais e o parto ocorreu em casa, sem assistência. Não foi identificada qualquer perturbação mental que verificasse os requisitos normativos de inimputabilidade para o crime. Embora raros, os casos de neonaticídio causam particular alarme social e levantam diversas questões jurídicas e médicolegais. O facto de se encontrarem associados à ocultação da gravidez e à ausência de perturbação mental evidente das suas autoras, dificulta a adoção de medidas preventivas, destacando-se a importância de um diagnóstico precoce de gravidez em mulheres em idade fértil.
- A decade of neonaticides in the greater Lisbon areaPublication . Câmara, Catarina Klut; Graça, Olindina; Costa, Tiago; Costa Santos, JorgeNeonaticide is the homicide of a child by a parent during the first 24 hours of life. The goal of this paper is to characterize cases of neonaticide that have occurred in the Great Lisbon area. The clinical files of all neonaticide cases that were studied at the Delegação do Sul, Instituto Nacional de Medicina Legal e Ciências Forenses (INMLCF, IP), between January, 1st 2001 and December 31st 2010 were reviewed and analyzed. Five cases of neonaticide were identified (2.96 per 100000 live births), perpetrated by five mothers with an average age of 25 years, whose main motivation was unwanted pregnancy. The pregnancies were concealed, no pre-natal care was obtained and delivery was unassisted and occurred at home. There were no cases of mental disorders that could justify, under a medico-legal point of view, a decision of not guilty by reason of insanity. Although rare, neonaticide cases affect societies and raise forensic questions. Due to its lower association with major psychopathology, low careseeking behavior, opportunities for prevention are reduced. Therefore, the early detection of pregnancy in women of fertile age may provide a valuable chance to offer the required support.
- Psicopatologia dos agressores nas relações de IntimidadePublication . Leitão, Catarina; Graça, Olindina; Vieira, Fernando; Costa Santos, JorgeApesar das estatísticas oficiais indicarem a diminuição da criminalidade, em geral, em Portugal, o mesmo não acontece com violência doméstica. A maioria das intervenções está dirigida para o apoio e tratamento das vítimas, pelo que pouco se sabe ainda sobre as características dos agressores, tanto no contexto da violência doméstica, como nas relações de intimidade em particular, nomeadamente no que diz respeito à existência de psicopatologia ou doenças mentais. Este trabalho tem por objetivo identificar perturbações mentais (distúrbios da personalidade ou doenças mentais) associadas a tais condutas, no que ao agressor diz respeito. Foi realizada uma pesquisa nas bases de dados PubMed, PsycINFO e Index e analisados dezanove relatórios periciais de agressores em contexto de violência doméstica realizados no Serviço de Clínica Forense da Delegação do Sul do Instituto Nacional de Medicina Legal e Ciências Forenses. A maioria dos casos preenche critérios de diagnóstico para perturbação da personalidade, sendo o tipo borderline o mais prevalente, ou tem uma cotação elevada em determinados traços patológicos da personalidade. Parece pois importante o desenvolvimento de programas de prevenção da violência doméstica, que incluam a sinalização e uma avaliação tão precoces quanto possível dos agressores, a que se seguiria uma intervenção especializada visando a sua reabilitação e prevenção de comportamentos violentos.
- Got her mummy´s eyes: Eye color investigation using IrisPlex – preliminary studyPublication . Dario, Paulo; Rita Olivera, Ana; Ribeiro, Teresa; Lucas, Isabel; Marques, Manuela; Porto, Maria João; Costa Santos, Jorge; Corte Real, F.; Dias, DeodáliaSNP phenotypic markers are being studied by several groups worldwide. As a result, phenotypic loci such as the ones responsible for human eye, hair and skin color are starting to get known. These may provide information for identification of unknown sample donors in criminal casework when there are no suspects. This kind of information may be even more relevant when the sample donor possesses phenotypic characteristics which distinguish him from the population in which he is inserted. Nevertheless, this approach may be used in similar scientific areas. In this work, a DNA sample from a mummified corpse with historical and scientific interest was studied in order to discover more information about who this corps belonged to. One of the tools used in this investigation was IrisPlex, designed for eye color prediction. This study presents one example on how this methodologies may be useful, not only in forensic investigation but also in areas such as physical anthropology.
- Parâmetros populacionais e forenses da população do Sul de Portugal – atualização dos dados genéticos dos loci STR usados na casuística forensePublication . Silva, Raquel Cabezas; Ribeiro, Teresa; Lucas, Isabel; Porto, Maria João; Costa Santos, Jorge; Dario, Paulo
- Variabilidade da quantidade de ADN em zaragatoas bucais –estudo preliminarPublication . Lucas, Isabel; Oliveira, Rita; Dourado, Catarina; Dario, Paulo; Reis, R.; Vieira Da Silva, Cláudia; Amorim, António; Afonso Costa, Heloísa; Simão, F.; Ribeiro, Teresa; Porto, Maria João; Costa Santos, JorgeOs laboratórios de Genética Forense têm como objetivo a obtenção de perfis genéticos com vista à identificação humana, para a resolução de perícias do âmbito cível e criminal. Com vista à obtenção dos perfis genéticos dos indivíduos, é necessário efetuar colheitas de amostras biológicas dos mesmos, denominadas por amostras de referência. As mais comummente usadas são as obtidas por descamação do epitélio da mucosa bucal, com recurso ao uso de zaragatoas bucais. A variabilidade da quantidade de células colhidas através deste procedimento, pode ser originada por diversos fatores. O objetivo deste estudo é avaliar fatores que eventualmente possam contribuir para tal facto.