Primary immunodeficiency diseases comprise a genetically heterogeneous group of disorders that affect distinct components of the innate and adaptive immune system, such as neutrophils, macrophages, dendritic cells, complement proteins and natural killer cells, as well as T and B lymphocytes. The study of these diseases has provided essential insights into the functioning of the immune system. Primary immunodeficiency diseases have been linked to over 120 different genes, abnormalities in which account for approximately 180 different forms of these diseases. Patients with primary immunodeficiency diseases are most often recognized because of their increased susceptibility to infections. However, these patients can also present with a variety of other manifestations, such as autoimmune diseases, inflammatory diseases and cancer. The purpose of this article is to update the main aspects of primary immunodeficiency diseases, especially regarding the clinical manifestations related to the diagnosis, emphasizing the need for the early recognition of warning signs for these diseases.

Keywords: Respiratory tract infections; Complement activation; Immunologic deficiency syndromes; Phagocytes; Immunoglobulins.

Objective: To present the computed tomography aspects of Rhodococcus equi pneumonia in seven patients with acquired immunodeficiency syndrome. Methods: A retrospective study of the computed tomography scans of seven patients with acquired immunodeficiency syndrome and Rhodococcus equi infection. Results: The most common findings were consolidation (n = 7), consolidation with cavitation (n = 6), ground glass opacities (n = 6), peribronchial nodules (n = 4) and centrilobular nodules presenting a "tree-in-bud" pattern (n = 3). Conclusion: The most common finding in patients with Rhodococcus equi pulmonary infection and acquired immunodeficiency syndrome was consolidation with cavitation.

Keywords: Acquired immunodeficiency syndrome; Rhodococcus equi; Actimomycetales infections; Lung diseases, fungal; Tomography, emission-computed

In lung function laboratories, statistical responses after bronchodilators (Bd) administration are widely used in patients with airflow limitation. However, their clinical relevance is debatable. Objective: To determine which spirometric parameters best reflect improvement in both exercise tolerance and exertional dyspnea in response to bronchodilators in obstructive lung diseases. Methods: Fifty patients with persistent asthma and/or COPD (FEV1/FVC = 41 ± 11%) were submitted to slow and forced vital capacity testing, MVV and a six-minute walking test (6 MW) following practice, before and after a 400 mg dose of salbutamol was given by MDI. Responses to Bd were expressed in absolute values and considered as increments to the initial values and predicted values. Responses to Bd were considered clinically significant if distance was longer than 30 m in the 6 MW test and/or if there was a 2-point decrease in the Borg scale in the walking distance. Results: 32 patients were responsive (R) to Bd and 18 were non-responsive (NR). As DMW correlated with age, (rs = -0.38 - p < 0.01) an analysis on spirometric data, including age as covariant, was performed and expressed as x ± SE. No difference in FEV1 was observed between the groups (R = 255 ± 57 ml; NR = 256 ± 43 ml). The same occurred regarding MVV (R = 11± 2 L/min; NR = 10 ± 2 L/min.). The best separation (p < 0.01) was given by changes in inspiration capacity (IC) followed by changes in slow vital capacity (SVC): IC% of initial R = 23 ± 3% and NR = 3 ± 4%; absolute IC = 411 ± 58 ml and NR = 163 ± 77 ml; predicted IC%: R = 19 ± 3% and NR = 3 ± 4%. For SVC, the values were: % initial - R = 18 ± 2% and NR = 9 ± 3%; absolute changes - R = 448 ± 52 ml and NR = 256 ± 70 ml. Increases in IC > 15% of the initial values and 0.3 L and increases in SVS > 15% of the initial values and 0.4 L determined responsive patients with positive predicted values as approximately 90%. Conclusion: Variations in FEV1, FVC and MVV do not predict improvement in exercise capacity after Bd. This is best reflected by 15% of increases in IC and/or in the SVC initial values.

Keywords: Obstructive lung diseases. Spirometry. Predictive value of tests. Bronchodilator agents. Exercise tolerance. Dyspnea.

Background: Mediastinal affections are common and encompass a great number of different diagnoses. Objective: To analyze the clinical aspects and the therapeutic response of 114 patients with mediastinal diseases treated at the Thoracic Surgery Department of Santa Casa de São Paulo Hospital, from 1979 and 1997. Method: The patients were grouped according to the benign or malignant nature of the disease, and the two groups were compared regarding gender, age bracket, symptomatology, topography of the lesion, mortality, and response to treatment. Results: Sixty-three patients had neoplasia: 31 benign and 32 malignant. Fifty-one cases were not neoplastic. No difference was found between the groups regarding gender or age bracket. Half of the patients were between 20 and 49 years of age. The anterior mediastinum was the most frequently affected compartment (66 patients), followed by the upper mediastinum (18 patients), the posterior mediastinum (16 patients), and the middle mediastinum (14 patients). The most frequent histological types were: benign thymus diseases (N = 40), mesenchymal tumors (N = 17), lymphomas (N = 15), neural tumors (N = 9), and germ cell tumors (N = 8). Malignant tumors were more frequently symptomatic (91%), and benign tumors were more frequent in asymptomatic patients (92%). The most frequent symptoms were related to myastenia gravis, followed by dyspnea and chest pain. Weight loss, anorexia and fever were significantly more frequent in patients with malignant neoplasias. Conclusions: Regarding the clinical aspects we can state that benign lesions were predominant, that mediastinal diseases were more prevalent in young adults, and that benign lesions were more frequent in asymptomatic patients. Treatment (clinical/surgical) was effective in most patients, benefiting approximately 90% of the patients with benign affections and 45% of the patients with malignant tumors. In 73% of the benign affections, surgical treatment was capable of achieving the cure. Mortality resulting from complications was 1.75%.

Keywords: Key words - Mediastinum. Mediastinal disease/epidemiology. Mediastinal neoplasms.

Objective: This study aimed to characterize the epidemiological profile of tuberculosis cases reported in the city of Ribeirão Preto between 1998 and 2003, according to patient HIV status, gender, age bracket and treatment outcome. Methods: This was a descriptive epidemiological study that employed the Brazilian National Tuberculosis Notification Database as an instrument of data collection. The study sample consisted of all cases of human immunodeficiency virus/tuberculosis co-infection occurring in residents of Ribeirão Preto and reported between 1998 and 2003. Results: During this period, 1273 new cases of tuberculosis were reported, 377 of which were in HIV-positive individuals, for a co-infection rate of 30%. Of the cases of co-infection, 76% were in men, and the majority occurred in individuals in the 20-59 age bracket. In terms of treatment outcome, cure was achieved in 52%, treatment abandonment was reported in 11%, and death occurred in 32%. The predominant clinical form of tuberculosis was the pulmonary form, which accounted for 58% of the cases. Conclusion: A high prevalence of co-infection was observed in the community studied. The treatment outcomes seen among the cases in our study sample underscore the need to adopt special strategies to monitor this clientele. Comparing the cases of tuberculosis in isolation with the cases of co-infection, no gender-related or age-related differences were observed.

Keywords: Tuberculosis; HIV infections; Comorbidity

The present article purports to analyze aspects related to the concept of quality of life, taking into account the relevance of setting down parameters that allow for the evaluation of those aspects, especially in patients with chronic diseases. The analysis considered quality of life as one of the essential components of medical care, and pointed out the precautions that should be taken to choose instruments of evaluation, that should be sensitive and reliable to the dimensions they intend to evaluate.

Keywords: quality of life, chronic diseases, asthma, chronic obstructive pulmonary disease

The greatest causes of morbidity and mortality in patients infected with human immunodeficiency virus are opportunistic infections and neoplastic diseases. Most of them are lung diseases. Its correct diagnosis and proper treatment improve the quality of life as well as the survival in this group of patients.

Keywords: lung disease; acquired immunodeficiency syndrome; bronchoscopy

Smoking is a medical condition, since there is drug dependence, and health professionals should treat it as a chronic disease. In order to understand the attitudes of Brazilian pulmonologists toward smokers, we conducted a national survey, using a questionnaire posted on the Internet, of 2,800 pulmonologists, 587 (21%) of whom completed and returned the questionnaires. We found that 3.2% of the respondents did not believe that smoking is a medical condition. Only 14.7% treated smokers, and 32.4% stated that they would refer smokers to another professional for treatment. These results suggest that Brazilian pulmonologists have insufficient knowledge of smoking cessation therapies.

Keywords: Physicians; Tobacco use cessation; Smoking/therapy.

Primary ciliary dyskinesia is an autosomal recessive disorder characterized by a history of recurrent upper and lower respiratory tract infections with chronic otitis media, bronchitis and rhinosinusitis, associated with situs inversus in 50% of cases. The diagnosis is established by ciliary ultrastructural analysis of respiratory specimens, after ruling out some disorders as cystic fibrosis, a-1 anti-trypsin deficiency, immune deficiencies (IgG, neutrophils and complement) and Young's syndrome. The purpose of this paper is to review the clinical features, diagnosis and management of primary ciliary dyskinesia, including a diagnostic algorithm.

Keywords: Ciliary dyskinesia. Situs inversus. Diagnosis.

Tracheobronchial amyloidosis is an uncommon localized form of amyloidosis, characterized by amyloid deposits restricted to the trachea, main bronchi and segmental bronchi. We present the case of a retired 67-year-old man with long-term progressive dyspnea, wheezing and chest pain. A diagnosis of tracheobronchial amyloidosis was made after the third fiberoptic bronchoscopy and histological confirmation through Congo red staining of tissue samples.

Keywords: Amiloidose/traquéia; Broncoscopia; Doenças da traquéia/diagnóstico.

Amyloidosis is a disease characterized by extracellular deposition of fibrillar protein in organs and tissues. Primary tracheal amyloidosis is rare. We report here a case of a 55-year-old man with tracheal amyloidosis hospitalized for acute respiratory insufficiency and with a history of recent episodes of pneumonia. Chest X-ray and chest computed tomography showed tracheal obstruction due to a tumor. A passage was created in order to relieve the symptoms. Histological examination (Congo red staining) revealed amyloid deposits but no evidence of neoplasia. Although this is a rare clinical condition, its importance is discussed regarding the differential diagnosis of tracheal tumors and the repercussions for therapeutic decision-making.

Keywords: Amyloidosis; Respiratory insufficiency; Congo red; Airway obstruction.

Primary ciliary dyskinesia (PCD) is a genetic disorder of ciliary structure or function. It results in mucus accumulation and bacterial colonization of the respiratory tract which leads to chronic upper and lower airway infections, organ laterality defects, and fertility problems. We review the respiratory signs and symptoms of PCD, as well as the screening tests for and diagnostic investigation of the disease, together with details related to ciliary function, ciliary ultrastructure, and genetic studies. In addition, we describe the difficulties in diagnosing PCD by means of transmission electron microscopy, as well as describing patient follow-up procedures.

Keywords: Kartagener Syndrome; Cilia; Mucociliary clearance; Ciliary motility disorders; Diagnosis.

With the advent of HRCT, primary spontaneous pneumothorax has come to be better understood and managed, because its etiology can now be identified in most cases. Primary spontaneous pneumothorax is mainly caused by the rupture of a small subpleural emphysematous vesicle (designated a bleb) or of a subpleural paraseptal emphysematous lesion (designated a bulla). The aim of this pictorial essay was to improve the understanding of primary spontaneous pneumothorax and to propose a description of the major anatomical lesions found during surgery.

Keywords: Pneumothorax; Pulmonary emphysema; Tomography, X-ray computed.