Browsing by Author "Ribeiro, L."
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- Accuracy of prenatal culture in predicting intrapartum group B streptococcus colonization statusPublication . Florindo, C.; Damião, V.; Lima, J.; Nogueira, I.; Rocha, I.; Caetano, P.; Ribeiro, L.; Viegas, S.; Gomes, João Paulo; Borrego, M.J.Objective: To evaluate the positive predictive value (PPV) of group B Streptococcus (GBS) cultures at 35–37 weeks of gestation relative to GBS colonization status at delivery. Methods: Rectovaginal swabs from 221 women at labor in four Lisbon hospitals were collected for GBS screening according to the CDC guidelines. Results: The PPV was 24.4%. IAP was administered to 100% of prenatally GBS positive women. There was no case of early onset GBS disease (EOD). Conclusions: Poor accuracy of prenatal cultures in identifying true candidates for IAP highlights the need for Portuguese clinical and laboratory guidelines to prevent EOD and antibiotic overtreatment of pregnant women.
- Hereditary breast and ovarian cancer: two cases of double heterozigosity for pathogenic variants in the BRCA1 or BRCA2 and ATM genesPublication . Theisen, Patrícia; Rodrigues, Pedro; Silva, Catarina; Carpinteiro, Dina; Ribeiro, L.; Carreiro, Helena; Gervásio, H.; Leal da Silva, José; Vieira, Luís; Gonçalves, JoãoIntroduction: 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, after appropriate genetic counseling. Two female patients with a personal and family history of cancer were studied by next-generation sequencing (NGS). Methods: NGS using TruSight Cancer Panel (Illumina) followed by bioinformatic analysis of 18 genes associated with HBOC was performed. Pathogenic variants were confirmed by Sanger sequencing. Results: A rare event of double heterozigosity for pathogenic variants was identified in both patients: patient A was heterozygous for BRCA1:c.2037delinsCC, p.(Lys679Asn*4) and ATM:c.3802delG, p.(Val1268*) and patient B carried both BRCA2:c.6001dupT, p.(Ser2001Phefs*2) and ATM:3435_3436delTGinsA, p.(Asp1145Glufs*11). After genetic counseling, three relatives of patient A were analyzed: while one of her two healthy sons was heterozygous for the ATM variant, the other was a double heterozygote for BRCA1:c.2037delinsCC and ATM:c.3802delG; a female cousin, recently diagnosed with breast cancer, was a carrier of ATM:c.3802delG only. Conclusions: The identification of these two rare cases of double heterozigosity for pathogenic variants in BRCA1/BRCA2 and ATM genes, highlights the importance of using NGS-gene panel testing in HBOC. If molecular analysis had been restricted to BRCA genes only, the pathogenic ATM variants would have been missed in both families, depriving them of appropriate genetic counseling and cancer risk management.
- Rapid response Task Force: addressing the detection of Aedes albopictus in Lisbon, PortugalPublication . Grau-Pujol, B.; Moreira, A.; Vieira Martins, J; Costa Osório, H; Ribeiro, L.; Dinis, A.; Sousa, C.; Alves, M. João; Leite, P. Pinto; Vasconcelos, P.Issue: The invasive Aedes albopictus mosquitoes are spreading in southern Europe and pose a heightened risk of mosquito-borne diseases, like Dengue and Chikungunya. On September 2023, A. albopictus was first identified in Lisbon through community-based surveillance and a multidisciplinary national Task Force (TF) was convened. Description of the problem: The TF included experts in epidemiology, entomology, environmental health, laboratory diagnosis, prevention and control and communication. The objectives were to i) confirm A.albopictus presence in Lisbon and adjust the risk assessment, ii) raise awareness and prevent mosquitoes’ spread, iii) revise national guidelines on arboviruses surveillance and control. During September-December 2023, the National Network for Vectors Surveillance (REVIVE) and the Hygiene and Tropical Medicine Institute sampled mosquito-prone habitats within 2km-radius of the detection point using QGIS software. They used snowball sampling to identify any new foci. They placed ovitraps for ongoing surveillance and conducted morphological analysis and xenomonitoring for pathogen DNA and RNA detection at the national reference laboratory. Results: By November 2023, A.albopictus was detected in two new foci. No mosquitoes tested positive for arboviruses, and no autochthonous cases of mosquito-borne diseases were identified. The TF developed national guidelines for vector prevention and control and awareness for arboviruses and trained municipality workers. To raise awareness, we communicated with experts and the public through existing channels and media. As of April 2024, no new foci have been detected. Lessons: Community-based surveillance and REVIVE approach were crucial for invasive A.albopictus detection and monitoring in Lisbon. Rapid multidisciplinary TF coordination may have been key for timely vector control.
- Vigilância de vetores e saúde públicaPublication . Osório, H. C.; Ribeiro, L.Vigilância de vetores e saúde pública relativa ao ano de 2021, no âmbito do programa REVIVE.