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Browsing INMLCF - Artigos Científicos by Field of Science and Technology (FOS) "Ciências Médicas"
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- Forensic Microbiology: challenges in detecting sexually transmitted InfectionsPublication . Eira, Ana; Fadoni, Jennifer; Amorim, António; Cainé, LauraSexual assault crimes consist of acts committed without consent and represent a major global issue with serious implications for victims. These acts have both short- and long-term consequences on the physical, mental, and sexual health of victims, with sexually transmitted infections (STIs) being one of the direct outcomes of such crimes. Sexually transmitted infections constitute a serious global public health problem and can lead to severe consequences. These infections may be caused by bacteria, viruses, or parasites and are transmitted through sexual contact. Some of the most common STIs among the general population and victims of sexual crimes include gonorrhoea, chlamydia, trichomoniasis, and syphilis. In most carriers, these infections are asymptomatic, making their detection particularly challenging. Considering the importance of further research in this field, the primary objectives of this study are to review the existing literature on the incidence of major STIs in victims of sexual crimes, to identify the various risk factors associated with these infections, and to explore their public health implications. Additionally, this study aims to assess different STI detection techniques, analyzing their advantages and disadvantages. Studies on this topic are crucial for better understanding the role of sexually transmitted infections in the context of sexual crimes. However, throughout this work, it was verified that point-of-care methods are a good option to allow the diagnosis to be faster and more accurate, when compared to other methods of detecting sexually transmitted infections.
- The Genetic Structure of Cape Verdean Population Revealed by Y-Chromosome STRsPublication . Cainé, Laura; Costa, Rita; Fadoni, Jennifer; Amorim, António; AmorimBackground/Objectives: Y-chromosomal short tandem repeats (Y-STR) are genetic markers widely used in forensic and population genetics. However, despite their importance, many populations remain under-represented in published studies and genetic databases. One such population is the Cape Verdean, which, despite its unique history of admixture between European and sub-Saharan African populations, continues to be under-represented in global Y-STR reference databases. This study aims to characterize the Y-STR haplotype diversity and paternal lineage composition of the Cape Verdean population using a high-resolution STR panel. Methods: A total of 143 unrelated Cape Verdean men were analyzed using a set of 26 Y-STR loci, including rapidly mutating markers. Allele and haplotype frequencies were calculated, along with standard forensic parameters such as gene and haplotype diversity. Paternal lineages were inferred, and genetic relationships with other populations were evaluated using distance-based and graphical methods. Results: A total of 135 haplotypes were detected, with 88.8% being unique, yielding a haplotype diversity of 0.999. The most common haplogroups reflected both West African and European ancestry. Genetic distance analysis positioned the Cape Verdean population between African and European groups, supporting its intermediate and admixed genetic background. Conclusions: This study provides the first high-resolution Y-STR dataset for Cape Verdeans, contributing valuable reference data for forensic casework and population genetic studies. The results highlight the utility of extended Y-STR panels in admixed populations and underscore the need to enhance the representation of admixed populations in international forensic reference databases
- Sexually Transmitted Infections: Usefulness of Molecular Methods for Microorganism Detection in Stored Sexual Assault SamplesPublication . Cainé, Laura; Eiras, Ana; Fadoni, Jennifer; Franco, Magda; Correia Dias, Maria Helena; Amorim, AntónioSexual assault is a global public health and human rights concern, with serious physical, psychological and reproductive consequences for survivors. Among these, sexually transmitted infections are particularly relevant due to their frequently asymptomatic nature and potential for long-term complications. The detection of sexually transmitted infections in forensic settings is crucial for clinical management of victims and for evidentiary support in forensic sexual crimes investigations. This study aimed to evaluate the applicability of real-time polymerase chain reaction for detecting Chlamydia trachomatis, Trichomonas vaginalis, Neisseria gonorrhoeae, and Treponema pallidum in biological samples collected from victims of sexual assault and stored under routine forensic conditions, in some cases, for up to 18 years. A total of 231 swabs from 116 individuals collected between 2004 and 2017 were analysed using real-time PCR with pathogen-specific primers and fluorescent probes. The analysis revealed 13 positive samples of T. vaginalis (5.6%) and 11 of C. trachomatis (4.8%). No positive results were obtained for N. gonorrhoeae or T. pallidum. These findings demonstrate the usefulness of real-time polymerase chain reaction for detecting sexually transmitted infections in long-term preserved forensic samples. Moreover, the ability to identify pathogen DNA in archived samples highlights the potential role of molecular diagnostics in the retrospective investigation of sexual crimes, including cold cases. It underscores the value of molecular methods as a complementary tool in forensic proceedings and survivor care.
- Y-STR Databases-Application in Sexual Crimes.Publication . Costa, Rita; Fadoni, Jennifer; Amorim, António; Cainé, LauraBackground/objectives: The Y chromosome is a crucial tool in forensic genetics due to its unique characteristics, such as its haploid inheritance and lack of recombination. Y-STRs (short tandem repeats on the Y chromosome) are widely used for identifying male genetic profiles in DNA mixtures, especially in sexual assault cases where high levels of female DNA hinder autosomal analysis. This study evaluates the applicability of Y-STRs in forensic investigations, addressing their limitations and the impact of advanced technologies, such as rapidly mutating Y-STRs (RM Y-STRs). Methods: A comprehensive literature review was conducted to analyze existing knowledge on the application of Y-STRs in sexual crimes. The study also examines the role of population databases, such as YHRD, in estimating haplotype frequencies and enhancing forensic reliability. Results: Y-STR analysis proves essential for male DNA identification in complex mixtures, with RM Y-STRs enhancing discriminatory power. However, limitations persist, particularly in cases involving closely related male lineages. The population database coverage remains insufficient in regions like Cape Verde, affecting forensic reliability. Case studies demonstrate Y-STR effectiveness in solving cold cases and sexual crimes, reinforcing the need for expanded databases and methodological advancements. Conclusions: Y-STRs play a fundamental role in forensic genetics, particularly in sexual assault investigations. Their integration with advanced sequencing technologies and expanded databases is critical for improving forensic accuracy. Ethical considerations regarding genetic data privacy and potential discrimination must be addressed through clear regulations and forensic best practices.