Tuberculose pulmonar: relação entre baciloscopia do escarro e lesões radiológicas

OBJECTIVES: To determine the frequency of radiological manifestations of chest tuberculosis among the tuberculosis outpatients at the Santa Casa de Misericórdia de São Paulo Hospital, and to correlate these radiological findings with the sputum bacilloscopy. SAMPLE AND METHODS: A review was made of the medical record cards and chest X-rays of all patients attended between January 1996 and December 1998. Patients with a diagnosis of tuberculosis who presented intrathoracic manifestations of the disease and negative anti-HIV serology were selected. RESULTS: The selection included 153 patients, with an average age of 37.5 years, who were predominantly male (60.8%) and white (56.9%). Pulmonary lesions were present in 121 (79.9%) and extrapulmonary lesions in 32 (20.1%). Parenchymal-infiltrate lesions appeared in 56 patients (36.6%), cavity lesions in 55 (36.0%), pleural effusion in 28 (18.3%), isolated nodules in 6 (3.9%), mediastinal enlargement in 4 (2.6%) and miliary pattern in 4 (2.6%). Cavities were present in 45.5% of the patients with pulmonary lesions, generally in association with the parenchymal-infiltrate lesions. Parenchymal infiltrate was present in 86.8% of the patients with pulmonary lesions. There was significant presence of alcohol-acid resistant bacillus in the sputum of patients with cavities (76.4%), in comparison with those without cavities (50%) (p = 0.003). CONCLUSIONS: Parenchymal-infiltrate lesions are the most frequent radiological manifestation of pulmonary tuberculosis, and they are generally associated with cavities. There is a relationship between the presence of acid fast bacilli in sputum and pulmonary cavity lesions.OBJETIVOS: Determinar a freqüência das manifestações radiológicas da tuberculose nos pacientes do Ambulatório de Tuberculose do Departamento de Medicina da Santa Casa de Misericórdia de São Paulo, e correlacionar a manifestação radiológica e a baciloscopia direta do escarro. CASUÍSTICA E MÉTODOS: Foram revisados os prontuários e as radiografias de tórax de todos os doentes atendidos entre janeiro/1996 e dezembro/1998. Foram selecionados os doentes com diagnóstico de tuberculose e que apresentavam manifestação intratorácica da doença e sorologia anti-HIV negativa. RESULTADOS: Foram incluídos 153 doentes, média de 37,5 anos, predominância do sexo masculino (60,8%) e da raça branca (56,9%). Lesões pulmonares estavam presentes em 121 (79,1%); no restante ocorreu envolvimento torácico sem comprometimento pulmonar. Alterações do tipo infiltrado pulmonar ocorreram em 56 (36,6%), cavidade em 55 (36,0%), derrame pleural em 28 (18,3%), nódulo isolado em 6 (3,9%), linfonodomegalia mediastinal em 4 (2,6%) e padrão miliar em 4 (2,6%). Excetuando-se as lesões extrapulmonares, cavidades estiveram presentes em 45,5% dos doentes com lesões pulmonares. Considerando o infiltrado pulmonar que acompanhou a lesão cavitária, em 105 (68,6%) o infiltrado esteve presente. Excluindo-se aqueles com lesões extrapulmonares, o infiltrado apareceu em 86,8% dos doentes com lesões pulmonares. Baciloscopia foi positiva em 76,4% dos doentes com cavidade e em 50,0% dos sem cavidade (p = 0,003). CONCLUSÕES: O infiltrado pulmonar constitui-se na manifestação radiográfica mais freqüente da tuberculose pulmonar, estando a cavidade geralmente associada às lesões do tipo infiltrado pulmonar. Existe relação entre a presença de BAAR no escarro e as lesões cavitárias pulmonares

Carotid stenosis: what is the high-risk population?

OBJECTIVE: Prevention is the best treatment for cerebrovascular disease, which is why early diagnosis and the immediate treatment of carotid stenosis contribute significantly to reducing the incidence of stroke. Given its silent nature, 80% of stroke cases occur in asymptomatic individuals, emphasizing the importance of screening individuals with carotid stenosis and identifying high-risk groups for the disease. The aim of this study was to determine the prevalence and the most frequent risk factors for carotid stenosis. METHODS: A transversal study was conducted in the form of a stroke prevention campaign held on three nonconsecutive Saturdays. During the sessions, carotid stenosis diagnostic procedures were performed for 500 individuals aged 60 years or older who had systemic arterial hypertension and/or diabetes mellitus and/or coronary heart disease and/or a family history of stroke. RESULTS: The prevalence of carotid stenosis in the population studied was 7.4%, and the most frequent risk factors identified were mean age of 70 years, carotid bruit, peripheral obstructive arterial disease, coronary insufficiency and smoking. Independent predictive factors of carotid stenosis include the presence of carotid bruit or peripheral obstructive heart disease and/or coronary insufficiency. CONCLUSIONS: The population with peripheral obstructive heart disease and carotid bruit should undergo routine screening for carotid stenosis

Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing

<p>Abstract</p> <p>Background</p> <p>Duchenne and Becker Muscular dystrophies (DMD/BMD) are allelic disorders caused by mutations in the dystrophin gene, which encodes a sarcolemmal protein responsible for muscle integrity. Deletions and duplications account for approximately 75% of mutations in DMD and 85% in BMD. The implementation of techniques allowing complete gene sequencing has focused attention on small point mutations and other mechanisms underlying complex rearrangements.</p> <p>Methods</p> <p>We selected 47 patients (41 families; 35 DMD, 6 BMD) without deletions and duplications in <it>DMD </it>gene (excluded by multiplex ligation-dependent probe amplification and multiplex polymerase chain reaction analysis). This cohort was investigated by systematic direct sequence analysis to study sequence variation. We focused our attention on rare mutational events which were further studied through transcript analysis.</p> <p>Results</p> <p>We identified 40 different nucleotide alterations in DMD gene and their clinical correlates; altogether, 16 mutations were novel. DMD probands carried 9 microinsertions/microdeletions, 19 nonsense mutations, and 7 splice-site mutations. BMD patients carried 2 nonsense mutations, 2 splice-site mutations, 1 missense substitution, and 1 single base insertion. The most frequent stop codon was TGA (n = 10 patients), followed by TAG (n = 7) and TAA (n = 4). We also analyzed the molecular mechanisms of five rare mutational events. They are two frame-shifting mutations in the <it>DMD </it>gene 3'end in BMD and three novel splicing defects: IVS42: c.6118-3C>A, which causes a leaky splice-site; c.9560A>G, which determines a cryptic splice-site activation and c.9564-426 T>G, which creates pseudoexon retention within IVS65.</p> <p>Conclusion</p> <p>The analysis of our patients' sample, carrying point mutations or complex rearrangements in <it>DMD </it>gene, contributes to the knowledge on phenotypic correlations in dystrophinopatic patients and can provide a better understanding of pre-mRNA maturation defects and dystrophin functional domains. These data can have a prognostic relevance and can be useful in directing new therapeutic approaches, which rely on a precise definition of the genetic defects as well as their molecular consequences.</p