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Browsing by Author "Soares, J"

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  • Cerolipofuscinose: Estudo Ultrastrutural de 8 Casos
    Publication . Matias, C; Cabral, A; Tasso, T; Portela,R; Jorge, A; Moura Nunes, JF; Soares, J
    Os autores apresentam as principais características clínicas e descrevem os achados ultrastruturais de 8 casos de cerolipofuscinose (CLF)dos tipo infantil tardio (5 casos) e juvenil (3 casos) cujo diagnóstico clínico foi confirmado pela observação em microscopia electrónica de microbuffycoats de linfócitos do sangue periférico, e de biópsias de músculo estriado, pele, conjuntiva palpebral e mucosa rectal. A observação ultrastrutural confirmou o predomínio de agrupamentos de perfis paralelos de membranas e figuras paracristalinas nas células dos casos do tipo juvenil, e de corpos curvilineares nas células dos casos de tipo infantil tardio. Nestes dois tipos não se verificou preferência pela observação de um determinado tecido para a confirmação ultrastrutural do diagnóstico clínico. Em dois casos foram observados, nos linfócitos do sangue periférico, feixes de tubos paralelos associados no mesmo citosoma às inclusões típicas das CLF, o que pode sugerir uma relação daquelas estruturas com a alteração metabólica destas doenças. A sensibilidade e a especificidade reveladas pelo exame ultrastrutural de linfócitos do sangue periférico, e a facilidade de execução técnica, recomendam o seu uso para a confirmação do diagnóstico clínico de cerolipofuscinose.
    1989Journal article Open access Show more
  • HIV-1-Transmitted Drug Resistance and Transmission Clusters in Newly Diagnosed Patients in Portugal Between 2014 and 2019
    Publication . Pingarilho, M; Pimentel, V; Miranda, M; Silva, AR; Diniz, A; Ascenção, B; Piñeiro, C; Koch, C; Rodrigues, C; Caldas, C; Morais, C; Faria, D; Gomes da Silva, E; Teófilo, E; Monteiro, F; Roxo, F; Maltez, F; Rodrigues, F; Gaião, G; Ramos, H; Costa, I; Germano, I; Simões, J; Oliveira, J; Ferreira, J; Poças, J; Saraiva da Cunha, J; Soares, J; Henriques, J; Mansinho, K; Pedro, L; Aleixo, MJ; Gonçalves, MaJ; Manata, MJ; Mouro, M; Serrado, M; Caixeiro, M; Marques, N; Costa, O; Pacheco, P; Proença, P; Rodrigues, P; Pinho, R; Tavares, R; Correia de Abreu, R; Côrte-Real, R; Serrão, R; Sarmento e Castro, R; Nunes, S; Faria, T; Baptista, T; Martins, MR; Gomes, P; Mendão, L; Simões, D; Abecasis, A
    Objective: To describe and analyze transmitted drug resistance (TDR) between 2014 and 2019 in newly infected patients with HIV-1 in Portugal and to characterize its transmission networks. Methods: Clinical, socioepidemiological, and risk behavior data were collected from 820 newly diagnosed patients in Portugal between September 2014 and December 2019. The sequences obtained from drug resistance testing were used for subtyping, TDR determination, and transmission cluster (TC) analyses. Results: In Portugal, the overall prevalence of TDR between 2014 and 2019 was 11.0%. TDR presented a decreasing trend from 16.7% in 2014 to 9.2% in 2016 (p for-trend = 0.114). Multivariate analysis indicated that TDR was significantly associated with transmission route (MSM presented a lower probability of presenting TDR when compared to heterosexual contact) and with subtype (subtype C presented significantly more TDR when compared to subtype B). TC analysis corroborated that the heterosexual risk group presented a higher proportion of TDR in TCs when compared to MSMs. Among subtype A1, TDR reached 16.6% in heterosexuals, followed by 14.2% in patients infected with subtype B and 9.4% in patients infected with subtype G. Conclusion: Our molecular epidemiology approach indicates that the HIV-1 epidemic in Portugal is changing among risk group populations, with heterosexuals showing increasing levels of HIV-1 transmission and TDR. Prevention measures for this subpopulation should be reinforced.
    2022-04Journal article Open access Show more
  • Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings
    Publication . Valsassina, R; Briosa, F; Soares, J; Amorim, M; Limbert, C
    The authors present a new association of two heterozygous TACR3 mutations (p.Arg230His and p.Trp275*) responsible for a clinical trait of normosmic congenital hypogonadotropic hypogonadism in a family.
    2020-12Journal article Open access Show more
  • Intrathyroidal Ectopic Thymus: A Case Series
    Publication . Fernandes, AC; Fitas, AL; Soares, J; Nunes, A; Lopes, L
    2022Journal article Open access Show more
  • The Portuguese Severe Asthma Registry: Development, Features, and Data Sharing Policies
    Publication . Sá-Sousa, A; Fonseca, JA; Pereira, AM; Ferreira, A; Arrobas, A; Mendes, A; Drummond, M; Videira, W; Costa, T; Farinha, P; Soares, J; Rocha, P; Todo-Bom, A; Sokolova, A; Costa, A; Fernandes, B; Chaves Loureiro, C; Longo, C; Pardal, C; Costa, C; Cruz, C; Loureiro, CC; Lopes, C; Mesquita, D; Faria, E; Magalhães, E; Menezes, F; Todo-Bom, F; Carvalho, F; Regateiro, FS; Falcão, H; Fernandes, I; Gaspar-Marques, J; Viana, J; Ferreira, J; Silva, JM; Simão, L; Almeida, L; Fernandes, L; Ferreira, L; van Zeller, M; Quaresma, M; Castanho, M; André, N; Cortesão, N; Leiria-Pinto, P; Pinto, P; Rosa, P; Carreiro-Martins, P; Gerardo, R; Silva, R; Lucas, S; Almeida, T; Calvo, T
    The Portuguese Severe Asthma Registry (Registo de Asma Grave Portugal, RAG) was developed by an open collaborative network of asthma specialists. RAG collects data from adults and pediatric severe asthma patients that despite treatment optimization and adequate management of comorbidities require step 4/5 treatment according to GINA recommendations. In this paper, we describe the development and implementation of RAG, its features, and data sharing policies. The contents and structure of RAG were defined in a multistep consensus process. A pilot version was pretested and iteratively improved. The selection of data elements for RAG considered other severe asthma registries, aiming at characterizing the patient's clinical status whilst avoiding overloading the standard workflow of the clinical appointment. Features of RAG include automatic assessment of eligibility, easy data input, and exportable data in natural language that can be pasted directly in patients' electronic health record and security features to enable data sharing (among researchers and with other international databases) without compromising patients' confidentiality. RAG is a national web-based disease registry of severe asthma patients, available at asmagrave.pt. It allows prospective clinical data collection, promotes standardized care and collaborative clinical research, and may contribute to inform evidence-based healthcare policies for severe asthma.
    2018Journal article Open access Show more