23 documents found, page 1 of 3
Surveying genetic markers of antibiotic resistance and genomic background in Ch...
Lodhia, Zohra; da Silva, Jorge Costa; Correia, Cristina; Cordeiro, Dora; João, Inês; Carreira, Teresa; Schäfer, Sandra; Aliyeva, Elzara; Portugal, ClaraObjectives: To survey genetic markers of potential antimicrobial resistance (AMR) to macrolides and fluoroquinolones among Chlamydia trachomatis–positive samples from the collection of the Portuguese National Reference Laboratory for Sexually Transmitted Infections (STIs), and explore a multiplex PCR approach coupled with NGS to provide complementary information regarding a strain’s genomic backbone. Methods: A...
Comparison of Multi-locus Genotypes Detected in Aspergillus fumigatus Isolated ...
Morais, Susana; Toscano, Cristina; Simões, Helena; Carpinteiro, Dina; Viegas, Carla; Veríssimo, Cristina; Sabino, RaquelBackground: Aspergillus fumigatus is a saprophytic fungus, ubiquitous in the environment and responsible for causing infections, some of them severe invasive infections. The high morbidity and mortality, together with the increasing burden of triazole-resistant isolates and the emergence of new risk groups, namely COVID-19 patients, have raised a crescent awareness of the need to better comprehend the dynamics ...
Comparison of multi-locus genotypes detected in Aspergillus fumigatus isolated ...
Morais, Susana; Toscano, Cristina; Simões, Helena; Carpinteiro, Dina; Viegas, Carla; Veríssimo, Cristina; Sabino, RaquelBackground: Aspergillus fumigatus is a saprophytic fungus, ubiquitous in the environment, and responsible for causing infections, some of them severe invasive infections. The high morbidity and mortality, together with the increasing burden of triazole-resistant isolates and the emergence of new risk groups, namely COVID-19 patients, have raised a crescent awareness of the need to better comprehend the dynamics...
Genetic testing for germline variants in homologous recombination repair genes,...
Arnaut, Daniela; Rodrigues, Pedro; Theisen, Patrícia; Carpinteiro, Dina; Vieira, Luís; Gonçalves, JoãoHomologous recombination repair (HRR) is the cellular mechanism for error-free repair of DNA double-strand breaks. Pathogenic germline variants in BRCA1 and BRCA2 lead to HRR deficiency associated with breast, ovarian, prostate, pancreatic cancers and are sensitive to PARP inhibitors (PARPi). Defects in HRR genes beyond BRCA1/2 could also result in HRR deficiency and sensitize the tumor to PARPi, thus expanding...
Development and testing of microsatellite loci for the study of population gene...
Velez, Rita; De Meeûs, Thierry; Beati, Lorenza; Younsi, Hend; Zhioua, Elyes; Antunes, Sandra; Domingos, Ana; Ataíde Sampaio, Daniel; Carpinteiro, DinaIxodes ricinus is an important vector of several human and veterinary infectious agents. Its wide geographical distribution and permissive feeding behaviour have prompted earlier studies on its population genetics. Results were, nevertheless, not conclusive. Furthermore, no research has fully focused on the south-western distribution range of I. ricinus, where exchanges between European and North African popula...
Multilocus genotyping of Aspergillus fumigatus isolated from patients diagnosed...
Morais, Susana; Toscano, Cristina; Simões, Helena; Carpinteiro, Dina; Viegas, Carla; Verissímo, Cristina; Sabino, RaquelAspergillus fumigatus is an environmental fungus responsible for causing severe invasive infections, especially in immunocompromised individuals. In 2020, during SARS-CoV-2 pandemics, a high number of cases of pulmonary aspergillosis was detected in COVID-19 patients, leading to the definition of CAPA (COVID-19 associated pulmonary aspergillosis). Patients with CAPA harbor many baseline prognostic factors with ...
ABC system used as an add-on to clarify germline variants previously classified...
Rodrigues, Pedro; Theisen, Patrícia; Silva, Catarina; Mendonça, Joana; Carpinteiro, Dina; Vieira, Luís; Gonçalves, JoãoThe increasing number of patients screened by NGS to identify germline variants associated with hereditary breast/ovarian cancer (HBOC) syndromes, is leading to a growing number of variants classified as Variants of Uncertain Significance (VUS) according to ACMG guidelines1. Since the ACMG system merges functional and clinical data into a one-dimensional system, it is not always clear how the classification was...
Avaliação do desempenho de uma core-facility de sequenciação genómica especiali...
Vieira, Luís; Silva, Catarina; Duarte, Sílvia; Mendonça, Joana; Carpinteiro, Dina; Sampaio, Daniel A.; Ferrão, José; Santos, Daniela; Machado, MiguelA Unidade de Tecnologia e Inovação (UTI) do Departamento de Genética Humana foi criada em 2009 pelo despacho normativo n.º 15/2009. Apesar de estar integrada num departamento técnico científico, esta unidade constituiu-se desde logo como core-facility de sequenciação genómica do Instituto Nacional de Saúde Doutor Ricardo Jorge (INSA). Este papel envolve uma gestão contínua de prioridades dos serviços a prestar ...
BRCA1 and BRCA2 variants identified in patients with a personal/familial histor...
Rodrigues, Pedro; Theisen, Patrícia; Silva, Catarina; Carpinteiro, Dina; Mendonça, Joana; Vieira, Luís; Gonçalves, JoãoIntroduction: Screening for BRCA1 and BRCA2 variants (Vs) in patients with Hereditary Breast/Ovarian Cancer (HBOC) or other Hereditary Cancer Syndromes (HCS) is performed using next-generation sequencing (NGS), allowing detection of a high number and types of Vs. The growing use of PARP inhibitors (PARPi) in the treatment of patients with homologous recombination-deficient tumors contributes to an increasing nu...
Hereditary breast and ovarian cancer: two cases of double heterozigosity for pa...
Theisen, Patrícia; Rodrigues, Pedro; Silva, Catarina; Carpinteiro, Dina; Ribeiro, L.; Carreiro, Helena; Gervásio, H.; Leal da Silva, José; Vieira, LuísIntroduction: Hereditary breast and ovarian cancer (HBOC) is estimated to represent 5-10% of all breast and ovarian cancer cases. Pathogenic germline variants in BRCA1 and BRCA2 account for 25% of familial cases. The identification of genetic defects in HBOC patients allows detection of carriers that can benefit from cancer risk management protocols, and predictive genetic testing to at-risk family members, aft...