Air cysts abnormally emerging from the trachea and/or larger bronchi is an extremely rare disease. Only a few isolated cases of paratracheal air cysts associated with chronic lung diseases have been described in the literature. The aim of this communication is to describe two cases of this rare, clinical entity in members of the same family. The father of the patients died from this disease at 43 years of age and his two daughters are currently under treatment. The clinical findings are similar to those of chronic pulmonary suppuration syndrome. The diagnosis was established by bronchovideoscopy, axial CT with 3D reconstitution and virtual bronchoscopy. The patients are under observation and palliative treatment is being administered.

Keywords: Lung diseases. Cysts. Trachea. Bronchi. Bronchoscopy. Computed tomography.

Amyloidosis is a disease characterized by extracellular deposition of pathologic fibrillar protein in organs and tissues. Diffuse primary tracheobronchial amyloidosis is rare. Herein, we report a case of a male patient with diffuse tracheobronchial amyloidosis, initially diagnosed as bronchial asthma.

Keywords: Asthma/pathology. Amyloidosis/diagnosis. Trachea/pathology.

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.

Objective: To evaluate the perception of disease severity in patients with cystic fibrosis (CF), investigating its relationship with clinical score, radiographic score, respiratory function tests, adherence to treatment and perception of self-care practices. Methods: Prospective, cross-sectional study involving CF patients treated in a program for adults with CF. The perception of disease severity, adherence to treatment and reported self-care practices were evaluated by means of questionnaires. Clinical data, Shwachman-Kulczycki clinical score, Brasfield radiographic score and spirometry were obtained for all of the patients. Results: Of the 38 patients studied, 3 (7.9%) patients rated their perception of health status as well below average; 5 (13.2%), as below average; 15 (39.5%), as average; 10 (26.3%), as above average; and 5 (13.2%), as well above average. The perception of disease severity correlated significantly with clinical score (r = 0.43, p = 0.007), FVC (r = 0.34, p = 0.034), FEV1 (r = 0.38, p = 0.019) and self-care practices (r = 0.33, p = 0.044), but not with degree of adherence (r = -0.03, p = 0.842) and radiographic score (r = 0.33, p = 0.51). Conclusions: The perception of disease severity correlated with objective measurements of disease severity (clinical score and respiratory function tests) and with reported self-care practices, but not with adherence to treatment.

Keywords: Severity of illness index; Cystic fibrosis; Patient compliance; Respiratory function tests.

Objective: Bone disease is a common comorbidity in patients with cystic fibrosis (CF). We sought to determine risk factors and identify potential biochemical markers for CF-related bone disease (CFBD) in a unique cohort of CF patients with end-stage lung disease undergoing lung transplantation (LTx) evaluation. Methods: All of the CF patients who were evaluated for LTx at our center between November of 1992 and December of 2010 were included in the study. Clinical data and biochemical markers of bone turnover, as well as bone mineral density (BMD) at the lumbar spine and femoral neck, were evaluated. Spearman's rho and multivariate logistic regression analysis were used. Results: A total of 102 adult CF patients were evaluated. The mean age was 28.1 years (95% CI: 26.7-29.5), and the mean body mass index was 17.5 kg/m2 (95% CI: 17.2-18.2). Mean T-scores were −2.3 and −1.9 at the lumbar spine and femoral neck, respectively, being lower in males than in females (−2.7 vs. −2.0 at the lumbar spine and −2.2 vs. −1.7 at the femoral neck). Overall, 52% had a T-score of < −2.5 at either skeletal site. The homozygous Phe508del genotype was found in 57% of patients without osteoporosis and in 60% of those with low BMD. Mean T-scores were not particularly low in patients with severe CFTR mutations. Although the BMI correlated with T-scores at the femoral neck and lumbar spine, serum 25-hydroxyvitamin D and parathyroid hormone levels did not. Conclusions: CFBD is common in CF patients with end-stage lung disease, particularly in males and patients with a low BMI. It appears that CF mutation status does not correlate with CFBD. In addition, it appears that low BMD does not correlate with other risk factors or biochemical parameters. The prevalence of CFBD appears to have recently decreased, most likely reflecting increased efforts at earlier diagnosis and treatment.

Keywords: Lung transplantation; Cystic fibrosis; Bone density; Osteoporosis.

Objective: To identify associations between genetic polymorphisms (in the MBL2, TGF-β1 and CD14 genes) and the severity of the lung disease in patients with cystic fibrosis (CF), as well as between the presence of ΔF508 alleles and lung disease severity in such patients. Methods: This was a cross-sectional cohort study, based on clinical and laboratory data, involving 105 patients with CF treated at a university hospital in the 2005-2006 period. We included 202 healthy blood donors as controls for the determination of TGF-β1 and CD14 gene polymorphisms. Polymorphisms in the MBL2 and TGF-β1 genes at codon 10, position +869, were genotyped using the allele-specific PCR technique. The C-159T polymorphism in the CD14 gene was genotyped using PCR and enzymatic digestion. Results: Of the 105 CF patients evaluated, 67 presented with severe lung disease according to the Shwachman score. The MBL2 gene polymorphisms were not associated with disease severity in the CF patients. Analysis of the T869C polymorphism in the TGF-β1 gene showed an association only between TC heterozygotes and mild pulmonary disease. Although patients presenting the TT genotype of the C159T polymorphism in the CD14 gene predominated, there was no significant difference regarding lung disease severity. Conclusions: There was an association between the TC genotype of the T869C polymorphism (TGF-β1) and mild pulmonary disease in CF patients. In the CD14 gene, the TT genotype seems to be a risk factor for pulmonary disease but is not a modulator of severity. We found no association between being a ΔF508 homozygote and presenting severe lung disease.

Keywords: Cystic fibrosis; Polymorphism, genetic; Severity of illness index; Mannose-binding lectin; Transforming growth factor beta.

Objective: Cystic fibrosis (CF) affects multiple organs, the most severe consequences being observed in the lungs. Despite significant progress in developing CF transmembrane conductance regulator-specific treatments for CF lung disease, exploring alternative CF-targeted medications seems reasonable. We sought to evaluate the potential beneficial effects of oral benzbromarone as an adjuvant therapy in CF patients with reduced lung function. Methods: This was a prospective open-label pilot study of oral benzbromarone (100 mg/day) administered once daily for 90 days. Patients were followed at a tertiary referral center in southern Brazil. Safety was assessed by the number of reported adverse events. Secondary objectives included percent predicted FEV1 (FEV1%) and pulmonary exacerbations. Results: Ten patients were enrolled. Benzbromarone was found to be safe, with no serious drug-related adverse events. Eight patients completed the study; the median relative change in FEV1% tended to increase during the treatment, showing an 8% increase from baseline at the final visit. However, a nonparametric test showed that the change was not significant (p = 0.06). Of a total of ten patients, only one experienced at least one pulmonary exacerbation during the study. Conclusions: Oral benzbromarone appears to be safe, and improved FEV1% has been observed in patients with CF. Further assessment in larger trials is warranted to elucidate whether oral benzbromarone can be a potential adjuvant therapy for CF.

Keywords: Cystic fibrosis/therapy; Mucociliary clearance; respiratory tract diseases.

Two cases of complete bronchial rupture and one case of tracheobronchial rupture by blunt chest trauma were treated at the Thoracic Surgical and Respiratory Endoscopy Department of the Hospital Universitário Cajuru in a period of 2 years. The surgical technique used was end-to-end anastomosis with interrupt absorbable suture after either resection of the stenotic edges or debridement of the lacerated edges. All three patients have had good recovery. The mean period to remove the chest tubes was 3.6 days, and the mean period of discharge from the Thoracic Surgical Department was 5.6 days. The follow-up was made using chest X-ray (PA and lateral projections), lung function tests, and bronchoscopy.

Keywords: Tracheobronchial rupture. Blunt chest trauma. Evaluation. Treatment.

The surgical treatment of patients with tracheobronchial stenosis requires individualized attention due to the complexity of its origin though tracheoplasty is considered to be the ideal procedure. The most common causes of stenosis are tracheal intubation and the development of neoplasias. These are the very conditions that most benefit from endoscopic treatment when surgical correction is not indicated. Today, endoscopic procedures include the application of different kinds of laser and dilators usually delivered with a rigid bronchoscope, as well as radiotherapy and stents that may be used separately or associated. Basically, there are two types of stents, metal or silicone. The metallic ones are more frequently indicated in cases of tracheomalacia and extrinsic compressive stenosis. Silicone are more applicable in cases of tracheobronchial obstruction resultant from acute inflammation or endoluminal tumor. Although these methods can be used interchangeably in some cases, the best way to correct tracheobronchial stenosis is to correctly decide upon the treatment as early as the preliminary steps.

Keywords: Tracheal stenosis. Orthopedics fixation devices. Angioplasty.

Introduction: Inhalations, postural drainage and respiratory physiotherapy are not always effective in removing tracheobronchial secretions. Objectives: To evaluate an alternative surgical technique, modified crichothyroidotomy, to aspirate tracheobronchial secretions. Method: Modified crichothyroidotomy is the introduction of a catheter number 8, 10 or 12 into the crichothyroid membrane in order to stimulate coughing and the aspiration of secretions. This is a descriptive study of the benefits as well as immediate and late complications caused by the use of this technique in 45 patients with excessive tracheobronchial secretions inadequately removed by usual methods. Results: Immediate surgical complications were bleeding (10 patients), oropharynx deviation (3), subcutaneous emphysema (1) and difficult introduction (1). Mean catheter permanence was 14 ± 16 days and, in all cases, the catheter provoked coughing and allowed the easy aspiration of secretions. The most frequent occurrence (17 patients) was the expulsion of the catheter by coughing, inadequate catheter handling during aspiration and moving of the patients. Conclusion: This is a simple technique with a low morbidity rate and represents constitutes an effective alternative to be used in the aspiration of tracheobronchial secretions.

Keywords: Postural drainage. Aspiration.

Objective: To evaluate the effect that maintaining tracheobronchial sputum at room temperature has on the analysis of ciliary transport and cough, as well as on the contact angle. Methods: Hyaline sputum was collected from 30 individuals without pulmonary diseases, and purulent sputum was collected from patients with bronchiectasis. The samples were analyzed immediately after collection and again after 24 h. Results: After 24 h at room temperature, the purulent sputum presented an increase in cough-induced dislodgment (96 ± 50 vs. 118 ± 61 mm) and a decrease in the contact angle (32 ± 6 vs. 27 ± 6 degrees) (p < 0.05). For the hyaline sputum, there were no alterations in the parameters analyzed. Conclusion:  Hyaline tracheobronchial sputum can be stored in room temperature for 24 h without presenting alterations in ciliary transport or contact angle. However, purulent sputum should not be stored at room temperature for many hours, since ciliary transport and contact angle might be altered as a result.

Keywords: Temperature; Sputum; Cough; Mucociliary clearance

Fistulas in the tracheobronchial tree (bronchopleural and tracheoesophageal fistulas) have a multifactorial etiology and present a variable incidence in the literature. In general, the related morbidity and mortality are high. Once such a fistula has been diagnosed, surgical closure is formally indicated. However, the clinical status of affected patients is usually unfavorable, which precludes the use of additional, extensive surgical interventions. In addition, attempts at endoscopic closure of these fistulas have seldom been successful, especially when the fistula is large in diameter. We report the cases of three patients submitted to endoscopic closure of fistulas, two of which were larger than 10 mm in diameter, by means of the insertion of atrial septal defect occluders. The procedure was minimally invasive, and the initial results were positive. The results indicate that this is a promising technique for the resolution of tracheobronchial tree fistulas.

Keywords: Bronchial fistula; Tracheoesophageal fistula; Bronchoscopy; Respiratory therapy.

This article aims to review the physiopathology, diagnosis and treatment of cystic fibrosis-related dyslipidemia (CFD). Bibliographic searches of the Medline and Latin American and Caribbean Health Sciences Literature databases were made (year range, 1987-2007), and the most representative papers on the theme were selected. The characteristic symptoms of CFD are hypertriglyceridemia-with or without hypocholesterolemia-and essential fatty acid deficiency. The principal CFD risk factors are pancreatic insufficiency, high-carbohydrate diet, liver diseases, inflammatory state and corticosteroid therapy. There are no specific recommendations regarding screening, which is typically performed based on the diagnosis, and at regular intervals, and more frequently in individuals belonging to high-risk groups. Treatment includes a balanced diet, micronutrient supplementation, and regular physical exercise according to individual tolerance. In the great majority of the cases, CFD-related hypertriglyceridemia does not reach values for which the use of hypolipidemic drugs is indicated. We conclude that there are few articles in the literature regarding the frequency, etiology and management of CFD. Preventive and therapeutic recommendations for hypertriglyceridemia are extrapolated from studies in individuals without cystic fibrosis. Further research is necessary to investigate the association of essential fatty acid deficiency and the physiopathology of cystic fibrosis. Since hypertriglyceridemia is an important risk factor for coronary artery disease, prospective studies will contribute for a better understanding of the natural history of this condition and define how to prevent and treat it.

Keywords: Cystic fibrosis; Dyslipidemias; Hypertriglyceridemia; Fatty Acids, nonesterified.

Cystic lymphangioma is a rare congenital benign tumor. It results from focal proliferation of well-differentiated lymphatic tissue originating from abnormal development of the lymphatic system. Most cystic lymphangiomas occur in the primitive lymph sacs of children or young adults. They generally appear in the neck (75%) and axillary region (20%). Only 1% are located in the mediastinum. Acquired lymphangiomas, which are principally seen in middle-aged adults, are caused by a process of chronic lymphatic obstruction secondary to surgery, chronic infection, or radiation. Here, we present the case of a 50-year-old male with cystic lymphangioma of the mediastinum, detected on a routine chest X-ray.

Keywords: Lymphangioma, cystic; Mediastinum; Incidental findings.