Objective: To evaluate the impact of the use of the molecular test for Mycobacterium tuberculosis and its resistance to rifampin (Xpert MTB/RIF), under routine conditions, at a referral hospital in the Brazilian state of Bahia. Methods: This was a descriptive study using the database of the Mycobacteriology Laboratory of the Octávio Mangabeira Specialized Hospital, in the city of Salvador, and georeferencing software. We evaluated 3,877 sputum samples collected from symptomatic respiratory patients, under routine conditions, between June of 2014 and March of 2015. All of the samples were submitted to sputum smear microscopy and the Xpert MTB/RIF test. Patients were stratified by gender, age, and geolocation. Results: Among the 3,877 sputum samples evaluated, the Xpert MTB/RIF test detected M. tuberculosis in 678 (17.5%), of which 60 (8.8%) showed resistance to rifampin. The Xpert MTB/RIF test detected M. tuberculosis in 254 patients who tested negative for sputum smear microscopy, thus increasing the diagnostic power by 59.9%. Conclusions: The use of the Xpert MTB/RIF test, under routine conditions, significantly increased the detection of cases of tuberculosis among sputum smear-negative patients.

Keywords: Tuberculosis/diagnosis; Molecular diagnostic techniques; Sputum.

Tuberculosis continues to be a major public health problem worldwide. The aim of the present study was to evaluate the accuracy of the Xpert MTB/RIF rapid molecular test for tuberculosis, using pulmonary samples obtained from patients treated at the Júlia Kubitschek Hospital, which is operated by the Hospital Foundation of the State of Minas Gerais, in the city of Belo Horizonte, Brazil. This was a retrospective study comparing the Xpert MTB/RIF test results with those of standard culture for Mycobacterium tuberculosis and phenotypic susceptibility tests. Although the Xpert MTB/RIF test showed high accuracy for the detection of M. tuberculosis and its resistance to rifampin, attention must be given to the clinical status of the patient, in relation to the test results, as well as to the limitations of molecular tests.

Keywords: Tuberculosis/diagnosis; Molecular diagnostic techniques; Sputum; Bronchoalveolar lavage fluid.

A pneumonia por Pneumocystis carinii (PPC), que é a infecção oportunista que mais comumente põe em risco a vida de pacientes com síndrome da imunodeficiência adquirida (SIDA), tem sido há bastante tempo associada a outros estados de imunodeficiência. Os relatos iniciais sugeriram que a apresentação clínica da PPC em SIDA difere de sua apresentação em outras situações, embora ambas tenham sofrido modificações nos últimos anos. O objetivo do presente estudo é comparar os achados clínicos e laboratoriais da PPC em SIDA com os de pacientes portadores de PPC sem SIDA. Foram revisados os prontuários médicos de todos os pacientes em nossa instituição que tiveram o diagnóstico confirmado de PPC e SIDA durante o ano de 1994 (17 pacientes) e sem SIDA no período de 1992-1994 (dez pacientes). Quando da apresentação, os pacientes sem SIDA tinham uma duração de sintomas significativamente menor (8,4 ± 7,7 vs 19,5 ± 10,2 dias, p < 0,05), menor PaO2 média a ar ambiente (47 ± 8,2 vs 63 ± 10mmHg, p < 0,05), e mais freqüente infiltrado unilateral no radiograma do tórax (60 vs 6%, p < 0,05). O índice de mortalidade da PPC foi marcadamente maior nos pacientes sem SIDA (40 vs 6%, p < 0,05), e este fato estava associado com retarde no início do tratamento específico nestes pacientes. Devido a seu curso mais agudo, apresentação radiológica atípica e alto índice de mortalidade, concluímos que o diagnóstico de PPC deve ser afastado em pacientes que recebem terapia imunossupressora e que profilaxia anti-PPC deve ser fortemente considerada em pacientes que serão imunossuprimidos.

Keywords: PPC-AIDS. PPC não-AIDS.

Objetivo: Realizar a tradução para a língua portuguesa e a adaptação cultural para uso no Brasil do Quality of Communication Questionnaire (QOC) para pacientes com DPOC em cuidados paliativos. Métodos: Após a aprovação do autor do questionário e do comitê de ética da instituição, a versão original do QOC com 13 itens foi traduzida, de forma independente, por dois tradutores brasileiros com fluência na língua inglesa. Uma síntese das duas traduções foi realizada por uma médica bilíngue e os dois tradutores, que chegaram a um consenso, gerando uma versão na língua portuguesa. Essa versão foi retraduzida por dois tradutores nativos de países de língua inglesa com fluência na língua portuguesa. Para resolver quaisquer discrepâncias, um comitê de especialistas comparou a versão original com todas as versões produzidas e, assim, obteve-se a versão pré-final do QOC. O pré-teste foi aplicado em 32 pacientes internados em UTIs de três hospitais públicos da grande Florianópolis (SC) para avaliar a clareza e a aceitabilidade cultural da versão pré-final do QOC. Resultados: A média de idade dos pacientes foi de 48,5 ± 18,8 anos. A maioria dos itens foi bem compreendida e aceita, recebendo pontuações ≥ 8. Um item, sobre morte, suscitou dificuldades na compreensão dos participantes do pré-teste. Ao submeter a retradução ao autor do QOC, ele solicitou alterações em dois itens, que foram acatadas. Após essas alterações, a versão final foi aprovada. Conclusões: A tradução e a adaptação cultural do QOC para uso no Brasil foi concluída com sucesso.

Keywords: Doença pulmonar obstrutiva crônica; Inquéritos e questionários; Comunicação; Unidades de terapia intensiva.

Abstract Objective: To compare four laboratory methods in the diagnosis of pulmonary tuberculosis. Methods: Respiratory secretion specimens were collected from 160 patients suspected of having pulmonary tuberculosis. Direct testing for Mycobacterium tuberculosis was carried out using Ziehl-Neelsen staining, auramine staining, culture on Löwenstein-Jensen (LJ) medium and polymerase chain reaction (PCR). The strains isolated were identified by means of a radiometric method using p-nitro-alpha-acetylamino-beta-hydroxypropiophenone (NAP) and classical methods. The sensitivity of the methods was compared to the gold standard for the diagnosis of pulmonary tuberculosis, based on clinical, radiological and microbiological criteria. Results: Of the 160 patients, 142 were diagnosed with pulmonary tuberculosis according to the gold standard. The sensitivity of Ziehl-Neelsen staining, auramine staining, culture on LJ medium and PCR was 54.2%, 58.4%, 67.6% and 77.5%, respectively, when compared with the diagnostic criterion adopted. All four methods presented 100% specificity. In the identification of mycobacteria, there was high (96.8%) concordance between PCR and the radiometric method using NAP. The sensitivity of PCR was 50.8% in samples with negative sputum smear microscopy results and 98.8% in those with positive results. The sensitivity of PCR was lower in specimens with negative results in sputum smear microscopy and culture than in those with positive results (25.6% and 99.0%, respectively). Conclusions: We found PCR to be a promising method for the diagnosis of pulmonary tuberculosis, even in paucibacillary specimens. Simultaneous identification and faster results are additional advantages of this method.

Keywords: Tuberculosis, pulmonary/diagnosis; Culture media; Polymerase chain reaction; Sputum/microbiology.

This retrospective molecular study involving restriction fragment length polymorphism, using insertion sequence 6110 as a marker, was conducted in order to provide an initial insight into the genetic diversity of Mycobacterium tuberculosis strains isolated in the slums of the Complexo de Manguinhos, located in the city of Rio de Janeiro, Brazil. Of the 67 strains evaluated, 23 (34.3%) were found to belong to clusters (total clusters, 10). Household and social chains of transmission were associated with clustering, in 20% and 60%, respectively. Living in the Conjunto Habitacional Programado 2 slum was associated with clustering. Although not significant, it is relevant that 26% of the clustered strains presented primary resistance. These findings, although possibly underestimating the prevalence due to the failure to analyze all strains, could help improve the local tuberculosis control program.

Keywords: Tuberculosis; Epidemiology, molecular; Mycobacterium tuberculosis/transmission; Polymorphism, Restriction Fragment Length.

Epidemiological studies have demonstrated a causal relationship between smoking and lung cancer. Although most lung cancer cases are linked to smoking, only a minority of heavy smokers develop lung cancer, leading to the notion that genetic factors affect individual susceptibility. The principal molecular changes in lung cancer are seen in tumor suppressor genes, proto-oncogenes, growth factors, telomerase activity, and methylation status of promoters. Well-known agents include angiogenesis-stimulating factors (such as vascular endothelial growth factor), as well as factors related to tumor cell proliferation and apoptosis (epidermal growth factor receptor, p53, K-ras, retinoblastoma and BCL-2). Several of these genetic factors have already been investigated, but no single parameter has yet presented sufficient selectivity regarding prognostic value or therapeutic efficacy. Treatment strategies to cure lung cancer should focus on these early genetic lesions in order to promote their repair or to eliminate these lung cancer cells.

Keywords: Smoking; Lung neoplasms; Genetic markers; Prognosis

Background: Tuberculosis is an ancient disease, which still remains one of the major ills faced by mankind in the 21st century. In recent decades, new technologies employing the knowledge gained from molecular biology studies have allowed for more accurate detection of tuberculosis and increased investigation of the etiology and epidemiology of the disease. Aim: Evaluating the degree of similarity among strains of Mycobacterium tuberculosis provided by the Phthisiology Sector of Centro de Saúde Navegantes (Navegantes Health Clinic) in Porto Alegre, RS, Brazil. Method: A retrospective study was performed involving RFLP typing of 55 sputum samples from outpatients examined at the Centro de Saúde Navegantes. The results of the genotyping were correlated to the conventional epidemiology data. Results: A single pattern was seen in 39 (70.9%) of the isolates, whereas 16 isolates (29.1%) showed clustering patterns and were grouped into 8 clusters of 2 patients each. An epidemiological link was found for 6 (37.5%) of the 16 patients in the clusters. Conclusion: The appropriate combination of conventional epidemiology and genotyping of M. tuberculosis contributes to a better understanding of the dynamics of tuberculosis transmission even when such a study is performed in a single, isolated health clinic.

Keywords: Mycobacterium tuberculosis. Transmission. Polymorphism, Restriction Fragment Length. Epidemiology.

Objective: To determine the relevance of screening for the F508del mutation of the cystic fibrosis transmembrane conductance regulator gene as a first step in the genetic diagnosis of cystic fibrosis (CF) by associating the genotype with various clinical variables. Methods: We evaluated 180 CF patients regarding the F508del mutation. The clinical data were obtained from the medical records of the patients and from interviews with their parents or legal guardians. Results: Of the 180 patients studied, 65 (36.1%) did not carry the F508del mutation (group 0 [G0]), 67 (37.2%) were F508del heterozygous (G1), and 48 (26.7%) were F508del homozygous (G2). All three groups showed associations with the clinical variables. Homozygosis was associated with younger patients, younger age at CF diagnosis, and younger age at the first isolation of Pseudomonas aeruginosa (PA), as well as with higher prevalence of pancreatic insufficiency (PI) and non-mucoid PA (NMPA) colonization. In comparison with G1+G2 patients, G0 patients were older; first experienced clinical symptoms, digestive disease, and pulmonary disease at an older age; were older at CF diagnosis and at first PA isolation; and had a lower prevalence of PI and meconium ileus, as well as of colonization by NMPA, mucoid PA, and Burkholderia cepacia. In G1 patients, values were intermediate for age at CF diagnosis; age at first PA isolation, first pulmonary symptoms, and first clinical manifestations; MPA colonization; and OR for PI. Conclusions: The identification of F508del in 63.9% of the patients studied showed that this can be a useful tool as a first step in the genetic diagnosis of CF. The F508del genotype was associated with clinical severity of the disease, especially with the variables related to CF onset.

Keywords: Cystic Fibrosis; Cystic Fibrosis Transmembrane Conductance Regulator; Genotype; Mutation.

Objective: To evaluate the accuracy of rapid molecular testing as a diagnostic tool and estimate the incidence of smear-positive pulmonary tuberculosis among the indigenous population. Methods: This is an epidemiological study based on secondary data. We calculated the incidence of smear-positive pulmonary tuberculosis between January 1st, 2011 and December 31, 2016, and the performance of bacilloscopy and rapid molecular testing in diagnosing pulmonary tuberculosis compared to sputum culture (standard test). Results: We included 4,048 cases of indigenous people with respiratory symptoms who provided sputum samples for analysis. Among them, 3.7%, 6.7%, and 3.7% had positive results for bacilloscopy, sputum culture, and rapid molecular testing, respectively. The mean incidence of pulmonary tuberculosis was 269.3/100 thousand inhabitants. Rapid molecular testing had 93.1% sensitivity and 98.2% specificity, compared to sputum culture. Bacilloscopy showed 55.1% sensitivity and 99.6% specificity. Conclusions: Rapid molecular testing can be useful in remote areas with limited resources and a high incidence of tuberculosis, such as indigenous villages in rural regions of Brazil. In addition, the main advantages of rapid molecular testing are its easy handling, fast results, and the possibility of detecting rifampicin resistance. Together, these attributes enable the early start of treatment, contributing to reduce the transmission in communities recognized as vulnerable to infection and disease.

Keywords: Tuberculosis; Molecular diagnostic testing; Diagnostic tests, routine; Indians, South American.

Objective: To determine the prevalence and characteristics of smoking among inpatients at a university hospital, as well as to evaluate their motivation, interest, and need for help in quitting smoking. Methods: A prospective study involving inpatients treated between May of 2008 and April of 2009 on the cardiovascular disease wards at the Antonio Pedro University Hospital, located in the city of Niterói, Brazil. All inpatients were asked to complete a questionnaire designed to collect data regarding demographics, reasons for admission, and smoking status. The smokers also responded to additional questions regarding their smoking habits. The level of nicotine dependence was determined with the Fagerström Test for Nicotine Dependence. Results: Of the 136 inpatients who participated in the study, 68 (50.0%) were male. The mean age was 60.7 years. The prevalence of smoking was 13.2%. Among the 49 patients with coronary disease, 36 (73.5%) were smokers or former smokers. The majority of the patients presented with a high level of nicotine dependence and reported withdrawal symptoms during hospitalization. Although most smokers were motivated to quit smoking, they admitted that they needed help to do so. Conclusions: Because smoking is forbidden in the hospital environment and most inpatients who smoke are highly motivated to quit, health professionals should view the hospitalization period as an opportunity to promote smoking cessation.

Keywords: Smoking; Inpatients; Smoking cessation.

Objective: To determine the main causes of hemoptysis and to classify this symptom, in terms of the amount of blood expectorated, in patients hospitalized at a referral hospital for pulmonology. Methods: The study included 50 patients with hemoptysis admitted to the pulmonology ward of a general hospital in the city of Recife, Brazil, between July of 2005 and February of 2006. The data of interest were analyzed and compared with those in the literature. Results: The most common cause of hemoptysis was infection-in 39 patients (78%)-mostly related to tuberculosis sequelae or active tuberculosis. Regarding the severity of hemoptysis, moderate hemoptysis, diagnosed in 28 patients (56%), was the most common. Conclusions: Our results suggest that all patients who present with hemoptysis should be investigated for infection.

Keywords: Hemoptysis/classification; Hemoptysis/etiology; Comorbidity.

Objective: To evaluate the use of venous thromboembolism (VTE) prophylaxis in a general hospital. Methods: A cross-sectional cohort study at the Hospital Nossa Senhora da Conceição, located in the city of Porto Alegre, Brazil, involving a random sample of patients admitted between October of 2008 and February of 2009. We included patients over 18 years of age and hospitalized for more than 48 h. The exclusion criteria were anticoagulant use, pregnancy, puerperium, and a history of thromboembolic disease. The adequacy of prophylaxis was evaluated in accordance with a protocol created by the Hospital and principally based on the American College of Chest Physicians guidelines, eighth edition. Results: We included 262 patients. The mean age was 59.1 ± 16.6 years. The most common risk factors were immobilization (in 70.6%), infection (in 44.3%), cancer (in 27.5%), obesity (in 23.3%), and major surgery (in 14.1%). The risk of VTE was classified as high and moderate in 143 (54.6%) and 117 (44.7%) of the patients, respectively. Overall, 46.2% of the patients received adequate prophylaxis, 25% of those with ≥ three risk factors for VTE and 18% of those with cancer, the differences between these last two groups and their counterparts (patients with < three risk factors and those without cancer) being statistically significant (p < 0.001 for both). Conclusions: Our data reveal that nearly all patients at our hospital were at risk for VTE, and that less than half received adequate VTE prophylaxis, which is in agreement with the literature. It is surprising that inadequate prophylaxis is more common in high-risk patients.

Keywords: Venous thromboembolism/prevention and control; Venous thrombosis/prevention and control; Heparin.

Objective: To evaluate the diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in patients suspected of having mild or atypical cystic fibrosis (CF). Methods: This was a cross-sectional study involving adolescents and adults aged ≥ 14 years. Volunteers underwent clinical, laboratory, and radiological evaluation, as well as spirometry, sputum microbiology, liver ultrasound, sweat tests, and molecular analysis of the CFTR gene. We then divided the patients into three groups by the number of mutations identified (none, one, and two or more) and compared those groups in terms of their characteristics. Results: We evaluated 37 patients with phenotypic findings of CF, with or without sweat test confirmation. The mean age of the patients was 32.5 ± 13.6 years, and females predominated (75.7%). The molecular analysis contributed to the definitive diagnosis of CF in 3 patients (8.1%), all of whom had at least two mutations. There were 7 patients (18.9%) with only one mutation and 26 patients (70.3%) with no mutations. None of the clinical characteristics evaluated was found to be associated with the genetic diagnosis. The most common mutation was p.F508del, which was found in 5 patients. The combination of p.V232D and p.F508del was found in 2 patients. Other mutations identified were p.A559T, p.D1152H, p.T1057A, p.I148T, p.V754M, p.P1290P, p.R1066H, and p.T351S. Conclusions: The molecular analysis of the CFTR gene coding region showed a limited contribution to the diagnostic investigation of patients suspected of having mild or atypical CF. In addition, there were no associations between the clinical characteristics and the genetic diagnosis.