Browsing by Author "Carvalho, F"
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- Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 familiesPublication . Sá, MJ; Storey, H; Flinter, F; Nagel, M; Sampaio, S; Castro, R; Araújo, JA; Gaspar, MA; Soares, C; Oliveira, A; Henriques, AC; Costa, AG; Abreu, CP; Ponce, P; Alves, R; Pinho, L; Silva, SE; Moura, CP; Mendonça, L; Carvalho, FPathogenic mutations in genes COL4A3/COL4A4 are responsible for autosomal Alport syndrome (AS) and thin basement membrane nephropathy (TBMN). We used Sanger sequencing to analyze all exons and splice site regions of COL4A3/COL4A4, in 40 unrelated Portuguese probands with clinical suspicion of AS/TBMN. To assess genotype-phenotype correlations, we compared clinically relevant phenotypes/outcomes between homozygous/compound heterozygous and apparently heterozygous patients. Seventeen novel and four reportedly pathogenic COL4A3/COL4A4 mutations were identified in 62.5% (25/40) of the probands. Regardless of the mutated gene, all patients with ARAS manifested chronic renal failure (CRF) and hearing loss, whereas a minority of the apparently heterozygous patients had CRF or extrarenal symptoms. CRF was diagnosed at a significantly younger age in patients with ARAS. In our families, the occurrence of COL4A3/COL4A4 mutations was higher, while the prevalence of XLAS was lower than expected. Overall, a pathogenic COL4A3/COL4A4/COL4A5 mutation was identified in >50% of patients with fewer than three of the standard diagnostic criteria of AS. With such a population background, simultaneous next-generation sequencing of all three genes may be recommended as the most expedite approach to diagnose collagen IV-related glomerular basement membrane nephropathies.
- Etiology of bronchiolitis in a hospitalized pediatric population: prospective multicenter studyPublication . Antunes, H; Rodrigues, H; Silva, N; Ferreira, C; Carvalho, F; Ramalho, H; Gonçalves, A; Branca, FBACKGROUND: In 2006, bronchiolitis due to adenovirus nosocomial infections resulted in the closure of a pediatric department in northern Portugal. OBJECTIVES: To determine the etiology of bronchiolitis in northern Portugal. STUDY DESIGN: It was a prospective multicenter study on the etiology of bronchiolitis during the respiratory syncytial virus (RSV) season (November-April). Children < or = 24 months of age admitted for a first wheezing episode were included. Nasopharyngeal specimens were analyzed by an indirect immunofluorescent-antibody assay (IFA) for RSV, adenovirus (HAdV), parainfluenza (PIV) 1-3 and influenza (IV) A and B and by polymerase chain reaction (PCR) or reverse transcription-PCR for the same viruses and for human metapneumovirus (hMPV), bocavirus (HBoV), rhinovirus (HRV), coronaviruses (229/E; NL63; OC43; HKU1) and enterovirus. RESULTS: During this period, 253 children were included, 249 IFA analyses and 207 PCRs were performed. IFA detected RSV in 58.1%; PCR increased it to 66.7%. IFA detected HAdV in 3.2%, PCR 10.0%. PCR detected IV A in 5; IV B in 2; PIV 1 in 6, PIV 2 in 4 and PIV 3 in 11 cases. HBoV, as single agent in 2 cases, and HRV were positive in 8 samples and hMPV in 11. With this virus panel, 19.7% remained without etiology. CONCLUSIONS: The most frequent agent was RSV, followed by HAdV. PCR can be cost-effective and more accurate than IFA, which is crucial for HAdV that may be associated with significant mortality (IFA alone did not detect 2/3 of the cases).
- Odynophagia and neck pain after exercisePublication . Faria, CA; Medeiros, I; Carvalho, F; Antunes, A
- The incidence of cancer and potential role of sirolimus immunosuppression conversion on mortality among a single-center renal transplantation cohort of 1,816 patientsPublication . Branco, F; Cavadas, V; Osório, L; Carvalho, F; Martins, L; Dias, L; Castro-Henriques, A; Lima, EINTRODUCTION: The chronic use of immunosuppressive drugs in renal transplant recipients increases the risk of developing de novo malignancies. Herein we analyze the incidence of de novo tumors and the potential role of sirolimus to improve cancer-specific survival among a cohort at a single center. METHODS: This retrospective analysis of our 1,816 patients allografted between January 1983 and December 2009 sought subjects who developed de novo tumors. Epidemiological and clinical data were examined using Mann-Whitney and Pearson's chi-square or Fisher exact tests for statistical comparisons of continuous and categorical variables, respectively. Kaplan-Meier survival curves were used to determine cancer-specific survival according to type of neoplasia and immunosuppressive regimen, namely, conversion to sirolimus. RESULTS: One hundred patients (5.5%) were diagnosed with a de novo malignancy. The 110 different cancers were diagnosed at a median interval of 73 months after kidney transplantation. The overall cancer-specific survivals at 1 and 5 years after cancer diagnosis were 87.0% and 76.9%, respectively. The 15 patients converted to sirolimus showed no difference in survival. CONCLUSION: The observed frequencies of cancer in our center are consistent with the literature. Among our cohort, sirolimus did not significantly impact survival among subjects who had de novo malignancies.
- Tuberculose em idade pediátrica: características, incidência e distribuição geográfica (2000-2010)Publication . Gonçalves, JP; Cerqueira, A; Machado, C; Carvalho, F; Cruz, S; Gonçalves, A; Martins, S