Percorrer por autor "Baptista, Teresa"
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- Prenatal Diagnosis of Congenital Heart Disease IN A Fetus with A 8p23.1 Interstitial DeletionPublication . Simão, Laurentino; Marques, Bárbara; Serafim, Sílvia; Alves, Ana; Pedro, Sónia; Brito, Filomena; Ferreira, Cristina; Peliano, Ricardo; Silva, Marisa; Baptista, Teresa; Quintal, Idolinda; Tomás, Edite; Cascais, Inês; Correia, HildebertoIntroduction: Congenital heart disease (CHD) is the most common form of birth defects. The incidence of CHD is about 0.8% to 1% in live-born, full-term births, and it is ten times higher in preterm infants (8.3%). The atrioventricular septum defect (AVDS) is the most common CHD detectable in utero. AVSD is known to occur in either a nonsyndromic (isolated) form or, more commonly, as part of a malformation syndrome. Methodology: A 30-year-old woman at 12 weeks of gestation was referred for prenatal diagnosis due to fetal AVSD. Chromosomal microarray analysis (CMA) was carried out after a normal molecular rapid aneuploidy test result. Results: CMA identified, in a male fetus, a 3.11 Mb interstitial deletion at 8p23.1 - arr[GRCh37] 8p23.1(8824857_11935465)x1. This region encompasses 17 OMIM genes including GATA4. This protein is thought to regulate genes involved in embryogenesis and in myocardial differentiation and function. Parental testing was requested and CMA was performed revealing that the deletion is de novo. Discussion: Deletions and mutations of the GATA4 gene are associated with cardiac septal defects. This deletion has a pathogenic clinical significance. The AVSD found in the fetus can be explained by the observed genomic change. Interstitial deletions of 8p23.1 are associated with a variable spectrum of anomalies that include congenital heart malformations. The prevalence is unknown but 8p23.1 deletions are rare. Most 8p deletions occurs de novo. The accuracy of cardiac defects in obstetric ultrasound and the identification of the genetic cause provide more knowledge for the genetic counseling. The parents opted to terminate the pregnancy.
- Viral genetic clustering and transmission dynamics of the 2022 mpox outbreak in PortugalPublication . Borges, Vítor; Duque, Mariana Perez; Martins, João Vieira; Vasconcelos, Paula; Ferreira, Rita; Sobral, Daniel; Pelerito, Ana; de Carvalho, Isabel Lopes; Núncio, Maria Sofia; Borrego, Maria José; Roemer, Cornelius; Neher, Richard A.; O’Driscoll, Megan; Rocha, Raquel; Lopo, Sílvia; Neves, Raquel; Palminha, Paula; Coelho, Luís; Nunes, Alexandra; Isidro, Joana; Pinto, Miguel; Santos, João Dourado; Mixão, Verónica; Santos, Daniela; Duarte, Silvia; Vieira, Luís; Martins, Fátima; Machado, Jorge; Veríssimo, Vítor Cabral; Grau, Berta; Peralta-Santos, André; Neves, José; Caldeira, Margarida; Pestana, Mafalda; Fernandes, Cândida; Caria, João; Pinto, Raquel; Póvoas, Diana; Maltez, Fernando; Sá, Ana Isabel; Salvador, Mafalda Brito; Teófilo, Eugénio; Rocha, Miguel; Moneti, Virginia; Duque, Luis Miguel; e Silva, Francisco Ferreira; Baptista, Teresa; Vasconcelos, Joana; Casanova, Sara; Mansinho, Kamal; Alves, João Vaz; Alves, João; Silva, António; Alpalhão, Miguel; Brazão, Cláudia; Sousa, Diogo; Filipe, Paulo; Pacheco, Patrícia; Peruzzu, Francesca; de Jesus, Rita Patrocínio; Ferreira, Luís; Mendez, Josefina; Jordão, Sofia; Duarte, Frederico; Gonçalves, Maria João; Pena, Eduarda; Silva, Claúdio Nunes; Guimarães, André Rodrigues; Tavares, Margarida; Freitas, Graça; Cordeiro, Rita; Gomes, João PauloPathogen genome sequencing during epidemics enhances our ability to identify and understand suspected clusters and investigate their relationships. Here, we combine genomic and epidemiological data of the 2022 mpox outbreak to better understand early viral spread, diversification and transmission dynamics. By sequencing 52% of the confirmed cases in Portugal, we identified the mpox virus sublineages with the highest impact on case numbers and fitted them into a global context, finding evidence that several international sublineages probably emerged or spread early in Portugal. We estimated a 62% infection reporting rate and that 1.3% of the population of men who have sex with men in Portugal were infected. We infer the critical role played by sexual networks and superspreader gatherings, such as sauna attendance, in the dissemination of mpox virus. Overall, our findings highlight genomic epidemiology as a tool for the real-time monitoring and control of mpox epidemics, and can guide future vaccine policy in a highly susceptible population.
- Viral genetics and transmission dynamics in the second wave of mpox outbreak in Portugal and forecasting public health scenariosPublication . Cordeiro, Rita; Caetano, Constantino P.; Sobral, Daniel; Ferreira, Rita; Coelho, Luís; Pelerito, Ana; de Carvalho, Isabel Lopes; Namorado, Sónia; Loyens, Dinis B.; Mexia, Ricardo; Fernandes, Cândida; Neves, José Miguel; João, Ana Luísa; Rocha, Miguel; Duque, Luís Miguel; Correia, Inês; Baptista, Teresa; Brazão, Cláudia; Sousa, Diogo; Filipe, Paulo; Alpalhão, Miguel; Maltez, Fernando; Póvoas, Diana; Pinto, Raquel; Caria, João; Patrocínio de Jesus, Rita; Pacheco, Patrícia; Peruzzu, Francesca; Méndez, Josefina; Ferreira, Luís; Mansinho, Kamal; Alves, João Vaz; Vasconcelos, Joana; Domingos, João; Casanova, Sara; Duarte, Frederico; Gonçalves, Maria João; Salvador, Mafalda Brito; Guimarães, Mafalda Andresen; Martins, Sueila; Oliveira, Marvin Silva; Santos, Daniela; Vieira, Luís; Núncio, Maria Sofia; Borges, Vítor; Gomes, João PauloIn 2023, a second wave of the global mpox epidemic, which is mainly affecting men who have sex with men (MSM), was observed in some countries. Herein, we benefited from a large viral sequence sampling (76/121; 63%) and vast epidemiological data to characterise the re-emergence and circulation of the (MPXV) in Portugal during 2023. We also modelled transmission and forecasted public health scenarios through a compartmental susceptible-exposed-infectious-recovered (SEIR) model. Our results suggest that the 2023 mpox wave in Portugal resulted from limited introduction(s) of MPXV belonging to C.1.1 sublineage, hypothetically from Asia, followed by sustained viral transmission and potential exportation to other countries. We estimated that the contribution of the MSM high sexual activity group to mpox transmission was 120 (95% CrI: 30-3553) times higher than that of the low sexual activity group. However, among the high sexual activity group, vaccinated individuals likely contributed approximately eight times less [0.123 (95% CrI: 0.068-0.208)] than the unvaccinated ones. Vaccination was also linked to potential reduced disease severity, with a Mpox Severity Score of 6.0 in the vaccinated group compared to 7.0 in unvaccinated individuals. Scenario analysis indicated that transmission is highly sensitive to sexual behaviour, projecting that a slight increase in the MSM sub-population with high sexual activity can trigger new mpox waves. This study strongly supports that continued vaccination, targeted awareness among risk groups and routine genomic epidemiology is needed to anticipate and respond to novel MPXV threats (e.g. global dissemination of clade I viruses).