Characterization of GlobalFiler loci in Angolan and Guinean populations inhabiting Southern Portugal.

We analyzed the GlobalFiler short tandem repeat (STR) loci for 152 and 70 unrelated individuals from Angolan and Guinean immigrant populations inhabiting Southern Portugal, respectively. After Bonferroni correction, no significant deviations from the Hardy-Weinberg equilibrium and linkage disequilibrium were detected for either population. For the Angolan population, SE33 was the most informative marker. In contrast, D5S818 and D13S317 were the least informative loci. The combined power of discrimination was 99.9999999999999999999999961907%. For the Guinean population, SE33 and D21S1 were the most informative loci, while D13S317 was the least. The combined power of discrimination was 99.99999999999999999999997915%. No significant differences were observed between Angolan, Guinean, and Afro-American populations for any of the analyzed STRs. The South African population presented significant differences at D22S1045 and D10S1248 when compared to Angola, and at D22S1045 when compared to Guinea-Bissau. The MDS plot and neighbor-joining tree analysis revealed that Angolan and Guinean populations are genetically close to African-American and South African populations, and genetically different from Korean, Mexican, European (including American-Caucasian), and Middle Eastern populations.

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.

Autosomal SNPs study of a population sample from Southern Portugal and from a sample of immigrants from Guinea-Bissau residing in Portugal.

In recent years, autosomal single nucleotide polymorphisms (SNPs) have been comprehensively investigated in forensic research due to their usefulness in certain circumstances in complementing short tandem repeats (STRs) analysis, or even for use on their own when analysis of STRs fails. However, as with STRs, in order to properly use SNP markers in forensic casuistic we need to understand the population and forensic parameters in question. As a result of Portugal's colonial history during the time of empire, and the subsequent process of decolonization, some African individuals migrated to Portugal, giving rise to large African and African-descendent communities. One of these groups is the community originating from Guinea-Bissau, that in 2014, was enumerated to consist of more than 17,700 individuals with official residency status, more than the third major city of Guinea-Bissau. In order to study the population and forensic parameters mentioned above for the two populations important to our casuistic, a total of 142 unrelated individuals from the South of Portugal and 90 immigrants from Guinea-Bissau (equally non related and all residing in Portugal) were typed with SNaPshot™ assay for all 52 loci included in the SNPforID 52plex.

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.

Breve revisão da antiguidade à atualidade / The doctor-patient relationship. Brief review of antiquity to present days

Introdução. Podemos referir que a comunicação pode e deve ser vista como um dos principais ingredientes dos cuidados médicos. Neste trabalho de revisão é avaliado o estabelecimento da relação entre o médico e o doente, relação esta que permite que duas pessoas, anteriormente desconhecidas entre si, estabeleçam uma ligação que permita um grau de intimidade suficiente que possibilite o conhecimento do doente como um todo, bem como permita a participação deste no estabelecimento das metas e objetivos para o atingimento do seu estado de saúde. Materiais e Métodos. Usados para a realização deste sucinto artigo de revisão, foi realizada uma pesquisa bibliográfica na PUBMED, tendo sido usadas as palavras-chave definidas como base no MeSH. As Bases da relação médico-doente assentam em 4 pilares: a confiança, o conhecimento, o respeito e a lealdade, tendo estes elementos um forte impacto nesta relação e na sua natureza, chegando mesmo a ter impacto nos resultados do tratamento no doente. Os Modelos de relação médico-doente consistem em três modelos-base: a) o modelo de atividade-passividade; b) o de orientação-cooperação; e, c) o de participação mútua, envolvendo diferentes níveis de participação do doente na tomada de decisão e na participação na escolha dos tratamentos. Os modelos de prática médica: da antiguidade aos dias de hoje passaram por uma transição ao longo dos anos. Nos primórdios, era predominantemente centrada em um modelo de atividade-passividade até ao modelo vigente nos dias de hoje, o modelo de participação mútua. Observações finais. Podemos verificar que os componentes da comunicação identificados como sendo mais eficazes, podem ser usados como base para o desenvolvimento de currículos de educação médica bem como para programas de educação de doentes.

Introduction. we can say that communication can and should be seen as one of the main ingredients of medical care. This review work evaluates the establishment of the relationship between the doctor and the patient, a relationship that allows two people previously unknown to each other to establish a connection that allows a sufficient degree of intimacy that enables the knowledge of the patient as a whole as well as his participation in the establishment of the goals and objectives for the attainment of his state of health. Materials and Methods. Used for the accomplishment of this succinct review article, they consisted of a bibliographic search in PUBMED, using the keywords defined based on MeSH. The bases of doctor-patient relationship are based on four pillars: trust, knowledge, respect and loyalty, these elements having a strong impact on the doctor-patient relationship and the nature of this relationship, even having an impact on treatment results of the patient. The models of physician-patient relationship consist in three basic models: a) the activity-passivity model; b) orientation-cooperation; and c) mutual participation involving different levels of patient participation in decision making and participation in the choice of treatments. The models of medical practice: from antiquity to the present have undergone a transition over the years. In the early days, it was predominantly centered on an activity-passivity model up to the current model, the model of mutual participation. Final observations. We can verify that the components of communication identified as being more effective can be used as a basis for the development of medical education curricula as well as for patient education programs.

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.

Spotted-dick, a zinc-finger protein of Drosophila required for expression of Orc4 and S phase.

The highly condensed chromosomes and chromosome breaks in mitotic cells of a Drosophila mutant, spotted-dick/pita, are the consequence of defects in DNA replication. Reduction of levels of Spotted-dick protein, by either RNAi or mutation, leads to the accumulation of cells that have DNA content intermediate to 2N and 4N in proliferating tissues and also compromises endoreduplication in larval salivary glands. The Spotted-dick Zinc-finger protein is present in the nuclei of cells committed to proliferation but necessary in cells undertaking S phase. We show that Spotted-dick/Pita functions as a transcription factor and that, in cultured S2 cells, it is an activator of expression of some 30 genes that include the Orc4 gene, required for initiation of DNA replication. Chromatin immunoprecipitation indicates that it associates with the genes that it activates in S2 cells together with other sites that could represent genes activated in other tissues. We discuss the role of Spotted-dick in the coordination of cellular growth and DNA replication.