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Practical Guidance on the Detection of NTRK Fusions in Sarcomas

Fernandes, Isabel; Macedo, Daniela; Gouveia, Emanuel; Ferreira, Ana; Lima, Jorge; Lopez, Dolores; Melo-Alvim, Cecília; Carvalho, Alice; Tavares, Paulo

Publisher Copyright: © 2025 CELOM. All rights reserved.; Sarcomas are a rare and heterogeneous group of mesenchymal malignant tumors and account for approximately 1% of all adult cancers and around 20% of all pediatric solid tumors in Europe. Technology advances have enabled a more accurate and efficient characterization of the molecular mechanisms underlying the pathogenesis of sarcoma subtypes and revealed no...


Plasmodium falciparum genetic diversity in continental Equatorial Guinea before...

Guerra, Mónica; Neres, Rita; Salgueiro, Patrícia; Mendes, Cristina; Ndong-Mabale, Nicolas; Berzosa, Pedro; de Sousa, Bruno; Arez, Ana Paula

Efforts to control malaria may affect malaria parasite genetic variability and drug resistance, the latter of which is associated with genetic events that promote mechanisms to escape drug action. The worldwide spread of drug resistance has been a major obstacle to controlling Plasmodium falciparum malaria, and thus the study of the origin and spread of associated mutations may provide some insights into the pr...


Characterization of rotavirus infection in children with acute gastroenteritis ...

Gasparinho, Carolina; Piedade, João; Mirante, Maria Clara; Mendes, Cristina; Mayer, Carlos; Nery, Susana Vaz; Brito, Miguel; Istrate, Claudia

Background: Rotavirus group A (RVA) is considered the leading cause of pediatric diarrhea, responsible for the high burden of diarrheal diseases in sub-Saharan Africa. Despite recent studies, the existent data are scarce for some African countries like Angola, a country with one of the highest RVA-related death estimates. The aim of this study was to determine the RVA detection rate and circulating genotypes in...


Molecular evolution and population genetics of a Gram-negative binding protein ...

Salgueiro, Patrícia; Lopes, Ana Sofia; Mendes, Cristina; Charlwood, Jacques Derek; Arez, Ana Paula; Pinto, João; Silveira, Henrique

Background: Clarifying the role of the innate immune system of the malaria vector Anopheles gambiae is a potential way to block the development of the Plasmodium parasites. Pathogen recognition is the first step of innate immune response, where pattern recognition proteins like GNBPs play a central role. Results: We analysed 70 sequences of the protein coding gene GNBPB2 from two species, Anopheles gambiae (s.s...


Genetic diversity and signatures of selection of drug resistance in Plasmodium ...

Mendes, Cristina; Salgueiro, Patrícia; Gonzalez, Vicenta; Berzosa, Pedro; Benito, Agustin; Do Rosário, Virgílio E.; De Sousa, Bruno; Cano, Jorge

Background: In Plasmodium, the high level of genetic diversity and the interactions established by co-infecting parasite populations within the same host may be a source of selection on pathogen virulence and drug resistance. As different patterns have already been described in humans and mosquitoes, parasite diversity and population structure should be studied in both hosts to properly assess their effects on ...


Pyruvate Kinase Deficiency in Sub-Saharan Africa

Machado, Patrícia; Manco, Licínio; Gomes, Cláudia; Mendes, Cristina; Fernandes, Natércia; Salomé, Graça; Sitoe, Luis; Chibute, Sérgio; Langa, José

Background: Pyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far. This work shows the results of a study undertaken to determine PK deficiency occurrence in some sub-Saharan African countries, as well as finding a prevalent PK variant underlying this deficiency. Materials and Methods: Blood samples of in...


Duffy negative antigen is no longer a barrier to Plasmodium vivax - molecular e...

Mendes, Cristina; Dias, Fernanda; Figueiredo, Joana; Mora, Vicenta Gonzalez; Cano, Jorge; de Sousa, Bruno; do Rosário, Virgílio E.; Benito, Agustin

Background: Plasmodium vivax shows a small prevalence in West and Central Africa due to the high prevalence of Duffy negative people. However, Duffy negative individuals infected with P. vivax have been reported in areas of high prevalence of Duffy positive people who may serve as supply of P. vivax strains able to invade Duffy negative erythrocytes. We investigated the presence of P. vivax in two West African ...


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