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- Chronic granulomatous disease associated with common variable immunodeficiency - 2 clinical casesPublication . Pacheco, C; Morais, A; Rolo, R; Ferreira, L; Nabiço, R; Cunha, JINTRODUCTION: Chronic granulomatous disease associated with common variable immunodeficiency (GD-CVID), although well documented, is rare. Granulomatous lesions can affect several organs and are histologically indistinguishable from sarcoidosis. CLINICAL CASES: Case 1: A 39-year-old male patient with CVID, asymptomatic although with thrombocytopenia and mediastinal-hilar adenopathies. GD-CVID was diagnosed by bone marrow biopsy. Progressive clinical and radiological improvement was obtained with corticotherapy. Case 2: A 38-year-old male patient with CVID, suffered from asthenia, anorexia, myalgia, lower limbs edemas, and dry cough. He had mediastinal and bilateral hilar adenopathies within which biopsy revealed non-necrotizing granulomatous infiltrate. A spontaneous resolution was detected after 9 months of evolution. CONCLUSION: GD-CVID is rare and can mimetize other pathologies, namely, sarcoidosis; it should therefore be publicized and discussed so that it becomes a general clinical knowledge.
- The Impact of Polymorphic Variations in the 5p15, 6p12, 6p21 and 15q25 Loci on the Risk and Prognosis of Portuguese Patients with Non-Small Cell Lung CancerPublication . de Mello, RA; Ferreira, M; Soares-Pires, F; Costa, S; Cunha, J; Oliveira, P; Hespanhol, V; Reis, RMINTRODUCTION: Polymorphic variants in the 5p15, 6p12, 6p21, and 15q25 loci were demonstrated to potentially contribute to lung cancer carcinogenesis. Therefore, this study was performed to assess the role of those variants in non-small cell lung cancer (NSCLC) risk and prognosis in a Portuguese population. MATERIALS AND METHODS: Blood from patients with NSCLC was prospectively collected. To perform an association study, DNA from these patients and healthy controls were genotyped for a panel of 19 SNPs using a Sequenom® MassARRAY platform. Kaplan-Meier curves were used to assess the overall survival (OS) and progression-free survival (PFS). RESULTS: One hundred and forty-four patients with NSCLC were successfully consecutively genotyped for the 19 SNPs. One SNP was associated with NSCLC risk: rs9295740 G/A. Two SNPs were associated with non-squamous histology: rs3024994 (VEGF intron 2) T/C and rs401681 C/T. Three SNPs were associated with response rate: rs3025035 (VEGF intron 7) C/T, rs833061 (VEGF -460) C/T and rs9295740 G/A. One SNP demonstrated an influence on PFS: rs401681 C/T at 5p15, p = 0.021. Four SNPs demonstrated an influence on OS: rs2010963 (VEGF +405 G/C), p = 0.042; rs3025010 (VEGF intron 5 C/T), p = 0.047; rs401681 C/T at 5p15, p = 0.046; and rs31489 C/A at 5p15, p = 0.029. CONCLUSIONS: Our study suggests that SNPs in the 6p12, 6p21, and 5p15 loci may serve as risk, predictive and prognostic NSCLC biomarkers. In the future, SNPs identified in the genomes of patients may improve NSCLC screening strategies and therapeutic management as well.
- Prevalência do consumo de tabaco em adolescentes escolarizados portugueses por sexo: podemos estar otimistas?Publication . Precioso, J; Samorinha, C; Macedo, M; Antunes, HAbstract INTRODUCTION: According to the MPOWER approach adopted in 2008 by the WHO, monitoring smoking epidemics is necessary in order to assess the effectiveness of the preventive measures used in smoking control in adolescents and adults. OBJECTIVES: To determine the prevalence of smoking in Portuguese school-aged adolescents by region. MATERIAL AND METHODS: The sample is made up of 8764 students, 4060 boys and 4704 girls, and is representative of the Portuguese students in regular public education. The data was collected in the 2008/2009 academic year, through a quantitative self-report questionnaire. RESULTS: In the total sample, 10.2% of boys and 9.1% of girls are regular smokers. Smoking increases with age. At 15 years old 12.3% of the boys and 8.6% of the girls are regular smokers and 6.1% of the boys and 4.0% of the girls are occasional smokers. Looking at prevalence by region, the highest prevalence of regular smoking is found in Alentejo (14.7%), followed by Azores (11.8%) and the lowest is found in Algarve (4.1%). CONCLUSIONS: The prevalence of smokers among Portuguese school-aged adolescents varies within the several regions of the country, similar to what happens in the adult Portuguese population.
- Sedation with midazolam in flexible bronchoscopy - a prospective studyPublication . Rolo, R; Mota, PC; Coelho, F; Alves, D; Fernandes, G; Cunha, J; Hespanhol, V; Magalhães, AINTRODUCTION: Sedatives have been increasingly used to improve patient comfort during flexible bronchoscopy (FOB). Due to its rapid-onset, anxiolytic and amnestic properties, midazolam is one of the most commonly used sedatives. OBJECTIVES: To evaluate the effect of sedation with midazolam, including patient tolerance, complications and its potential use on a daily routine basis. MATERIAL AND METHODS: A multi-centre, prospective, randomized, placebo-controlled study was made on 100 patients submitted to FOB in two Pulmonology Departments. Midazolam (0.05mg/kg) was administered to patients in Group 1 and saline solution (0,9% NaCl) to patients in Group 2, five minutes before the procedure. The Hospital Anxiety and Depression Scale (HADS-A) was used to determine patient anxiety level. Subjective questionnaires concerning main fears and complaints were answered before and after FOB. RESULTS: Mean age was 56.0 ± 14.1 years; 66% male. Most (65%) patients had low score (<7) in HADS-A scale with no difference between groups. No significant differences were seen between groups concerning FOB duration, procedures, lidocaine dosage and complications. Systolic blood pressure during and after FOB was significantly higher (p<0.003) in Group 2. Patients in Group 1 experienced less cough (32% vs 56%; p=0.03) and dyspnea (2% vs 34%; p<0.001) than in Group 2, while nausea (6% vs 18%; p>0.05) and pain (4% vs 12%; p>0.05) were not statistically different. Willingness to repeat the exam was reported in all patients in Group 1 and in 82% in Group 2 (p=0.003). CONCLUSION: Sedation with midazolam in FOB improved patient's comfort and decreased complaints, without significant haemodynamic changes. It should be offered to the patient on a routine basis.
- Implicações terapêuticas do lobo da veia ázigos em doente com adenocarcinoma do pulmãoPublication . Pinto, CS; Santos, N; Alves, D; Cunha, J; Miranda, J; Vouga, L
- Crohn's disease and intestinal tuberculosis: A clinical challenge.Publication . Rolo, R; Campainha, S; Duarte, R
- Mixoma endobrônquico: Caso clínicoPublication . Rolo, R; Pereira, R; Eisele, L; Ferreira, L; Nogueira, R; Cunha, JINTRODUCTION: Pulmonary myxoma is an extremely rare benign neoplasm. It is mostly parenchymal but may occasionally occur within the tracheobronchial tree. There are very few reports of endobronchial myxoma. CASE REPORT: We describe a case of endobronchial myxoma in a 40-year-old female patient with a history of asthma and repeated right-sided pneumonia. Thoracic computed tomography (CT) showed medium lobe atelectasis. Fiber optic bronchoscopy revealed a polypoid, well-circumscribed tumor, causing total obstruction of the medium lobe bronchus. Biopsy of the mass was non-diagnostic. Further study included a positron emission tomography (PET) which demonstrated low metabolic activity of the tumor and no evidence of neoplasia in other location. The patient was submitted to a medium lobectomy and microscopic examination of the tumor revealed myxoid stroma with lobulated pattern, elongated and stellate cells, compatible with myxoma. CONCLUSION: Pulmonary myxoma is extraordinary rare and endobronchial location is very few reported in medical literature.