Browsing by Author "Mendes, C"
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- Lower prevalence of congenital cytomegalovirus infection in Portugal: possible impact of COVID-19 lockdown?Publication . Fernandez, C; Chasqueira, MJ; Marques, A; Rodrigues, L; Marçal, M; Tuna, M; Braz, MC; Neto, AS; Mendes, C; Lito, D; Rocha, P; Vasconcellos, G; Menezes, MF; Sousa, MJ; Nunes, C; Paixão, PCytomegalovirus (CMV) is the most frequent cause of congenital infection all over the world. Its prevalence ranges from 0.2 to 2.2%. Transmission from children to their pregnant mothers is a well-known risk factor, particularly if they attend a childcare centre. This study aims to compare the prevalence of CMV congenital infection (CMV_CI) in Portugal (Lisbon) between two studies, performed respectively in 2019 and 2020. In the 2019 study, performed in two hospitals, we found a 0.67% CMV_CI prevalence, using a pool strategy previously tested with saliva samples. In the 2020 study, using the same pool approach in four hospitals (the previous and two additional), and based on 1277 samples, the prevalence was 0.078%.Conclusion: The close temporal coincidence with COVID-19 lockdown suggests that these measures may have had a significant impact on this reduction, although other explanations cannot be ruled-out. What is Known: • Cytomegalovirus is the leading cause of congenital infection. • Behavioural measures decrease cytomegalovirus seroconversion in pregnant women. What is New: • From 2019 to 2020 there was a significant reduction in the prevalence of congenital CMV infection.
- Practical Guidance on the Detection of NTRK Fusions in Sarcomas: Current Status and Diagnostic ChallengesPublication . Fernandes, I; Macedo, D; Gouveia, E; Ferreira, A; Lima, J; Lopez, D; Melo-Alvim, C; Carvalho, A; Tavares, P; Rodrigues-Santos, P; Cardoso, P; Magalhães, M; Vieira, P; Brito, J; Mendes, C; Rodrigues, J; Netto, E; Oliveira, V; Sousa, C; Henriques Abreu, M; Pina, F; Vasques, HSarcomas 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 novel and unexpected therapeutic targets with prognostic/predictive biomarkers, namely the neurotrophic tyrosine receptor kinase (NTRK) gene fusion. The NTRK fusion assessment has recently become a standard part of management for patients with unresectable locally advanced or metastatic cancers and has been identified in various tumor types. In the more prevalent adult and pediatric sarcomas, NTRK fusions are present in 1% and 20%, respectively, and in more than 90% of very rare subsets of tumors. The inhibition of TRK activity with first-generation TRK inhibitors has been found to be effective and well tolerated in adult and pediatric patients, independently of the tumor type. Overall, the therapeutic benefit to those patients compensates for the difficulties of identifying NTRK gene fusions. However, the rarity and diagnostic complexity of NTRK gene fusions raise several questions and challenges for clinicians. To address these issues, an expert panel of medical and pediatric oncologists, radiologists, surgeons, orthopedists, and pathologists reviewed the recent literature and discussed the current status and challenges, proposing a diagnostic algorithm for identifying NTRK fusion sarcomas. The aim of this article is to review the updated information on this issue and to provide the experts' recommendations and practical guidance on the optimal management of patients with soft tissue sarcomas, infantile fibrosarcoma, gastrointestinal stromal tumors, and osteosarcoma.
- Validation of control of allergic rhinitis and asthma test for children (CARATKids)--a prospective multicenter studyPublication . Linhares, DV; Fonseca, JA; Borrego, LM; Matos, A; Pereira, AM; Sá-Sousa, A; Gaspar, A; Mendes, C; Moreira, C; Gomes, E; Rebelo, FF; Cidrais-Rodrigues, JC; Onofre, JM; Azevedo, LF; Alfaro, M; Calix, MJ; Amaral, R; Rodrigues-Alves, R; Correia-Sousa, J; Morais-Almeida, M; CARATKids study groupBACKGROUND: Control of Allergic Rhinitis and Asthma Test for Children (CARATKids) is the first questionnaire that assesses simultaneously allergic rhinitis and asthma control in children. It was recently developed, but redundancy of questions and its psychometric properties were not assessed. This study aimed to (i) establish the final version of the CARATKids questionnaire and (ii) evaluate its reliability, responsiveness, cross-sectional validity, and longitudinal validity. METHODS: A prospective observational study was conducted in 11 Portuguese centers. During two visits separated by 6 wk, CARATKids, visual analog scale scales and childhood asthma control test were completed, and participant's asthma and rhinitis were evaluated by his/her physician without knowing the questionnaires' results. Data-driven item reduction was conducted, and internal consistency, responsiveness analysis, and associations with external measures of disease status were assessed. RESULTS: Of the 113 children included, 101 completed both visits. After item reduction, the final version of the questionnaire has 13 items, eight to be answered by the child and five by the caregiver. Its Cronbach's alpha was 0.80, the Guyatt's responsiveness index was -1.51, and a significant (p < 0.001) within-patient change of CARATKids score in clinical unstable patients was observed. Regarding cross-sectional validity, correlation coefficients of CARATKids with the external measures of control were between 0.45 and -0.69 and met the a priori predictions. In the longitudinal validity assessment, the correlation coefficients between the score changes of CARATKids and those of external measures of control ranged from 0.34 to 0.46.