Browsing by Author "Cavaco, J"
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- Cystic Fibrosis, Atopy, Asthma and ABPAPublication . Antunes, J; Fernandes, A; Borrego, LM; Leiria-Pinto, P; Cavaco, JThe role of atopy on cystic fibrosis (CF) progression remains unclear but evidence suggests that it may influence the appearance of co-morbid conditions such as CF asthma or allergic bronchopulmonary aspergillosis (ABPA). Recognising asthma in patients with CF is not always easy but the identification of atopic markers favours the diagnosis. Physicians should be aware of this fact in order to achieve a better control of respiratory symptoms in patients with CF. Bronchial mucosa inflammation and abnormal mucus predispose to mould colonisation. These patients are at higher risk of allergic sensitisation, especially when atopic susceptibility is present. In the particular case of A. fumigatus, allergic sensitisation precedes ABPA development, which occurs in up to 10% of CF patients. Progression of lung function deterioration is most strikingly pronounced in patients with ABPA. Therefore, sensitisation with A. fumigatus should be regularly tested in patients with CF, especially those at higher risk. Recombinant allergens constitute an important advance in differentiating Aspergillus sensitisation from ABPA itself.
- Primary Pulmonary Tumor in an AdolescentPublication . Rodrigues, L; Domingues, R; Amaral, D; Cavaco, JPrimary lung tumors in the pediatric age group are rare, histologically diverse and have different therapeutic approaches. The inflammatory myofibroblastic tumor of the lung accounts for 0.04% - 1.2% of all lung tumors, is more common in children and young adults and its etiology is unknown. The diagnosis is difficult as clinical and radiological findings are highly variable. We report a case of a 15-year-old adolescent who presented with a single pulmonary nodule on a chest radiograph, in the context of a respiratory infection, and whose etiological investigation revealed an inflammatory myofibroblastic tumor of the lung. Atypical resection was performed by video-assisted thoracoscopic surgery, with full recovery. We highlight the rarity of this entity, the need for a high suspicion index and the diagnostic investigation undertaken to reach a definitive diagnosis and a successful outcome.
- The Burkholderia Cenocepacia OmpA-Like Protein BCAL2958: Identification, Characterization, and Detection of Anti-BCAL2958 Antibodies in Serum from B. Cepacia Complex-Infected Cystic Fibrosis PatientsPublication . Sousa, S; Morad, M; Feliciano, JR; Pita, T; Nady, S; El-Hennamy, R; Abdel-Rahman, M; Cavaco, J; Pereira, L; Barreto, C; Leitão, JHRespiratory infections by bacteria of the Burkholderia cepacia complex (Bcc) remain an important cause of morbidity and mortality among cystic fibrosis patients, highlighting the need for novel therapeutic strategies. In the present work we have studied the B. cenocepacia protein BCAL2958, a member of the OmpA-like family of proteins, demonstrated as highly immunogenic in other pathogens and capable of eliciting strong host immune responses. The encoding gene was cloned and the protein, produced as a 6× His-tagged derivative, was used to produce polyclonal antibodies. Bioinformatics analyses led to the identification of sequences encoding proteins with a similarity higher than 96 % to BCAL2958 in all the publicly available Bcc genomes. Furthermore, using the antibody it was experimentally demonstrated that this protein is produced by all the 12 analyzed strains from 7 Bcc species. In addition, results are also presented showing the presence of anti-BCAL2958 antibodies in sera from cystic fibrosis patients with a clinical record of respiratory infection by Bcc, and the ability of the purified protein to in vitro stimulate neutrophils. The widespread production of the protein by Bcc members, together with its ability to stimulate the immune system and the detection of circulating antibodies in patients with a documented record of Bcc infection strongly suggest that the protein is a potential candidate for usage in preventive therapies of infections by Bcc.
- The effect of premature termination codon mutations on CFTR mRNA abundance in human nasal epithelium and intestinal organoids: a basis for read-through therapies in cystic fibrosisPublication . Clarke, LA; Awatade, NT; Felício, VM; Silva, IA; Calucho, M; Pereira, L; Azevedo, P; Cavaco, J; Barreto, C; Bertuzzo, C; Gartner, S; Beekman, J; Amaral, MDA major challenge in cystic fibrosis (CF) research is applying mutation-specific therapy to individual patients with diverse and rare CF transmembrane conductance regulator (CFTR) genotypes. Read-through agents are currently the most promising approach for Class I mutations that introduce premature termination codons (PTCs) into CFTR mRNA. However, variations in degradation of PTC containing transcripts by nonsense mediated decay (NMD) might lower read-through efficacy. Allele specific quantitative real time (qRT)-PCR was used to measure variations in CFTR mRNA abundance for several PTC mutations in respiratory cells and intestinal organoids. The majority of PTC mutations were associated with reduced levels of relative mRNA transcript abundance (∼33% and 26% of total CFTR mRNA in respiratory cells and intestinal organoids, respectively, compared to >50% for non-PTC causing mutations). These levels were generally not affected by PTC mutation type or position, but there could be twofold variations between individuals bearing the same genotype. Most PTC mutations in CFTR are subject to similar levels of NMD, which reduce but do not abolish PTC bearing mRNAs. Measurement of individual NMD levels in intestinal organoids and HNE cells might, therefore, be useful in predicting efficacy of PTC read-through in the context of personalized CFTR modulator therapy.
- Tuberculose Infantil — Anos 90. Revisão Casuística de 5 AnosPublication . Lage, MJ; Cruz, C; Chaves, F; Cavaco, J; Lopes, B; Carapau, JÉ apresentada a revisão de 204 casos de tuberculose doença diagnosticados e tratados no Hospital de D. Estefânia num período de 5 anos (1990-1994). Refira-se, nos casos estudados (204), a maior percentagem de crianças no grupo etário dos 5 aos 14 anos (67%), uma incidência de 32% para a raça negra e um predomínio nas classes sociais mais desfavorecidas, contribuindo o concelho da Amadora com a maior percentagem de casos. A inoculação prévia de BCG observou-se em 80% dos casos. As formas mediastino-pulmonares verificaram-se em 91% das crianças, tendo ocorrido complicações em 23%. A complicação mais frequente foi o derrame pleural. A tuberculose extrapulmonar observou-se em 9% das formas de tuberculose doença, sendo a meningite a mais frequente. A identificação da fonte de contágio foi possível em 42% dos casos e a pesquisa de BK positiva em 23%. Considerando o grupo racial como factor de variabilidade, verificou-se uma maior frequência de complicações na raça negra (29%) do que na raça branca (17%). Salienta-se a alta prevalência de tuberculose em Portugal e a sua incidência preferencial nas classes sociais mais desfavorecidas e nas zonas habitacionais urbanas mais degradadas.