Study of InDel genetic markers with forensic and ancestry informative interest in PALOP's immigrant populations in Lisboa.

The 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.

Characteristics of offenders deemed not guilty by reason of insanity in Portugal.

In Portugal, offenders found not guilty by reason of insanity (NGRI), may be given a restricted order to a special hospital as an alternative to prison. In European countries there is a recognized need for data concerning this special population. The aim of the present study was to examine the characteristics of all the NGRI subjects (n = 274) detained in the country in a descriptive and retrospective survey conducted in January 2009. Offence committed, demographic factors, diagnosis at admission, background of substance abuse and diagnostic stability were recorded. Schizophrenia was the commonest diagnosis (51.5%). Mean population age was 42.6 years, with only 6.2% women. Homicide was the most common offense (41.2%). A background of substance abuse was found in 42.3% of subjects. There were significant differences in the schizophrenia and mental retardation patient groups when compared individually with the other diagnoses concerning homicide and arson as the offence. Mean duration of inpatient stay did not differ significantly between diagnoses. The findings also point to poor follow-up of the NGRI patients after admission.

Victims of sexual offences: medicolegal examinations in emergency settings.

The aim of the study was to present some data concerning the examinations of victims of sexual offences in emergency settings conducted by medicolegal examiners of the Lisbon Department of the National Institute of Legal Medicine (NILM) over a two-year period (2002-2003). The study was based on 352 alleged victims of sexual offences referred by investigating police authorities and physicians working at hospital emergency rooms. Examination records were reviewed and data collected according to the extended medicolegal protocol adopted by NILM, which includes sociodemographic variables, and medical and laboratory findings. The results show that examinations in emergency settings represented about 43% of the total examinations of victims of sexual offences, 44% of them being performed at hospital emergency rooms. Victims' ages ranged from a minimum of 93 days to a maximum of 86 years. The mean age was 17.5 years. Females represented about 92% with a large over-representation of those aged from 0 to 19 years (61% of the total). Victims were mainly girls of school age (36%) or under 6 years old (25%). Offenders were male, referred to mainly, as acquaintances/neighbours (32%), friends (24%) or cohabiting family members (20%), a large majority belonging to the victim's social or family circle (85%). Of the examinations requested as "urgent cases" only 61% were reported as having occurred within 72h prior to the examination. Traumatic lesions on the whole body were found in only 28% of the cases, while findings on the genitalia and/or the anus were present in 31%. Medical and laboratory findings were in accordance with some sort of sexual offence in 34% of the cases. Our findings show the great heterogeneity of the victims, with a high proportion of children as well as the interplay between examination requests in emergency settings and the need to define more accurate criteria and proceedings for legal authorities and physicians who are usually the first line of intervention before specialists in legal medicine.

Sequencing CYP2D6 for the detection of poor-metabolizers in post-mortem blood samples with tramadol.

Tramadol 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.

Genetic portrait of Lisboa immigrant population from Angola with mitochondrial DNA.

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.

How to do identify single cases according to the quality assurance from IOFOS. The positive identification of an unidentified body by dental parameters: a case of homicide.

UNLABELLED: The positive identification of skeletal by individual dental parameters is one of the objectives of the criminal investigation. The intervention of Forensic Dentistry in some circumstances may represent the only way to obtaining a positive identification of an unidentified bodies. The teeth constitute a scientific method in forensic identification, principally due to the great resistance to the agents who provoke the destruction of the soft tissues in the corpses (putrefaction, traumatic, physical and chemical agents) and to the high morphological variability of the human teeth. The human identification in Forensic Dentistry is made by two ways: comparative and reconstructive. The identification allows to determine several parameters of forensic interest: specimen, population affinity, sex, age, stature and individualization's factors. The Forensic Dentistry is one of the most important fields in individual identification, because teeth have less variability in the chronology of events in terms of the reconstructive way. On the other side, in terms of the comparative way, this area is also important, because of the individualization's factors: positive identification in individual cases and in mass disasters. In this forensic case report, a homicide case, the objective of the medico-legal investigation was a positive identification of the unidentified corpse found one year after the crime, July 2010. The Portuguese Criminal Police of Lisbon, Homicide Group, requested to South Branch of the Portuguese National Institute of Forensic Medicine, a forensic examination by a Forensic Odontologist for dental positive identification. The objectives were: 1) post mortem reconstruction of the dental status of the victim; 2) obtain the ante mortem information of the presumable victims; 3) comparison of the post mortem information with the ante mortem information, for a positive identification of the presumable homicide victim. MATERIALS AND METHODS: in this field of dental investigation, the guidelines of the International Organization of Forensic Odontology were used for reconstruction of the post mortem dental profile, to register ante mortem information of the presumable victims and to compared for individualized dental factors, by using Interpol DVI Forms for Individual Case, post mortem and ante mortem forms F1 and F2. RESULTS: the unidentified victim of homicide was positive identified where it was established the identity by more than 12 individual dental characteristics. CONCLUSION: the Forensic Dentistry is a very important and simple field for individual identification of unidentified corpses for application of the criminal law.

[Forensic telepsychiatry in Portugal: a few reflections]. / Telepsiquiatria forense em portugal: algumas reflexões.

Forensic Telepsychiatry has had growing usage in countries such as the USA and England in the last decade, due to ongoing development of technologies which allow a better access to mental health care in needed populations, and improve the outcome of technicians' work, while facing a more demanding performance of Mental Health facilities. In this article we make a revision of literature concerning applications of Forensic Telepsychiatry, analyzing its potencialities and limits in Portugal. The literature shows positive evidence about efficiency, cost and acceptance, to both patients and doctors. On the other hand, several authors rise issues related to technical, ethical and legal aspects, such as restrictions to its application in forensics; privacy, confidentiality, safety, consent, diagnostic skills and professional responsibility. Forensic Telepsychiatry has shown special utility in remote rural populations with poor access to mental health care, victims of domestic violence, victims of sexual abuse, minor inpatients in correctional facilities and convicts in prisons. It may improve exchange of information with courts and penitentiaries, and production of evidence through quick and efficacious auditing. It has also been used in court to communicate forensic reports concerning mental health patients, to clarify issues related to psychiatric evaluations and testify in criminal and civil courts. Besides the literature revision, three areas of applicability for Forensic Telepsychiatry in Portugal are discussed in this article: teleconference for experts - psychiatrists and psychologists - testifying in court sessions; psychiatric and psychological evaluations through teleconference; expert auditions through a hotline, designed to provide specialized support to courts - both for urgent guidance and clarification. The reflections and proposals included in this article aim to make way to empirical studies which could evaluate the applicability of a more widespread usage of Forensic Telepsychiatry in Portugal in the near future.

Contribution of teeth in human forensic identification--discriminant function sexing odontometrical techniques in Portuguese population.

We investigate the accuracy of odontometric methods in sex determination, using a sample from the Portuguese population. Measurements were made on dental casts using a digital caliper, and various odontometric indexes have been defined using upper incisor and canine teeth. Comparison of the means in both sexes was performed using Student's t-test. Significant differences (p<0.05) were found in all variables except for the "Incisor Index". The canine showed the greatest sexual discriminant characteristics. In the presence of one or both canines the distobuccal-mesiolingual crown diameter and the "Robustness Value" allowed discrimination between sexes in the studied population. We also provide further arguments on the debate on whether sex determination is population specific.