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.

A 30 year old Caucasian male from São Paulo was admitted to the hospital He had been complaining about constant, moderate pain in the anterior and lateral left hemi-thoracic region for the last three months as well as associated great effort dyspnea over the last month.Investigation with chest X-rays, CT scans and MRI revealed a large anterior and medial mediastinal tumor suggesting large vessel invasion. The patient was submitted to a left side parasternal mediastinostomy and a biopsy of the mediastinal mass which was complicated by severe bleeding. An immediate median full sternotomy was elected in addition to a left anterior-lateral thoracotomy for total tumor resection and control of the bleeding. Evolution was good, with hospital discharge on the ninth postoperative day. The anatomical-pathological essay disclosed a hemangioendothelioma of the mediastinum.

Keywords: Hemangioendothelioma/diagnosis. Mediastinal neoplasms.

The mediastinum, made up by many organs and structures, comprises a wide range of affections, from simple cysts to low differentiated neoplasias and lymphomas. In their day-to-day activities, the diagnosis of these affections represent a real challenge to the pathologists. Furthermore, one of the main approaches to diagnosis includes mediastinoscopy. Therefore, the representation of the specimen for studies, as well as some artifacts to obtain the specimen, may pose some difficulty for a final diagnosis. This article will focus mainly on the problems faced to diagnose entities from the specimens obtained by mediatinoscopy in the surgical room, during the extraction of the material and at examination by freezing. The article will also update current criteria used to classify the tumors and the use of the immunohistochemistry to complement the diagnosis, criteria of invasion, and metastases. The purposes of this article are: recognize the main affections of the mediastinum, classify the main tumors, apply malignancy criteria, identify prognostic markers, and evaluate when there is need to establish a clinical, radiological and morphological correlation.

Keywords: Mediastinum. Mediastinum pathology. Prognostic markers.

Rosai-Dorfman disease (RDD) consists of sinus histiocytosis with massive lymphadenopathy. Extranodal involvement occurs in up to 43% of cases. However, isolated soft tissue RDD is rare. Isolated mediastinal RDD is exceedingly rare, and there have been only three previous reports. Involvement of the posterior mediastinum in RDD has been reported only in the context of disseminated RDD. Here, we report the case of a 49-year-old female patient with a two-year history of cervical pain and lymphadenomegaly, which resolved spontaneously. A CT scan revealed a left paravertebral mass with a diameter of 6 cm. The patient was submitted to surgical excision of the mass. Microscopic examination and immunophenotyping of the surgical specimen led to a diagnosis of RDD. During a 12-month follow-up period, the patient complained of mild cough and chest pain. Periodic imaging tests showed no sign of recurrence, and no postoperative cervical lymphadenomegaly was detected.

Keywords: Histiocytosis, sinus; Soft tissue neoplasms; Mediastinal neoplasms; Mediastinum.

Benign schwannoma tumors are the most common primary tumors of the posterior mediastinum. They may develop into a dumbbell-shaped involvement of the medullar channel, but rarely reach the tracheobronchial tree. The authors report a case of a 45-year-old female patient with a benign schwannoma in the posterior mediastinum, with a dumbbell-shaped lesion that traverses the intercartilaginous septa of the trachea. The tumor was resected by endoscopy in the endotracheal portion and afterwards by thoracotomy of the mediastinal tumor. Eight months after the surgery, there has been no recurrence of the lesion.

Keywords: Mediastinal neoplasms. Thoracotomy. Thoracoscopy. Mediastinal cyst.

Ectopic thyroid is a rare condition, and its location in the anterior mediastinum is even rarer, there having been only 5 reported cases in the past 30 years. Here, we describe 2 clinical cases and present a review of the literature regarding the etiology, embryology and clinical manifestations of ectopic thyroid.

Keywords: Thyroid dysgenesis; Mediastinum; Goiter.

Objective: To evaluate the impact of an aggressive treatment approach using muscle flaps or omentopexy in infections of the sternum and anterior mediastinum following sternotomy on mortality, as compared to that of a conservative treatment approach. Methods: Data were collected prior to, during and after the surgical procedures. Group A (n = 44) included patients submitted to conservative treatment- debridement together with resuture or continuous irrigation with polyvinylpyrrolidone-iodine solutions, or even with second-intention wound healing (retrospective data). Group B (n = 9) included patients in whom infection was not resolved with conservative treatment, and who therefore underwent aggressive treatment (intermediate phase). Group C (n = 28) included patients primarily submitted to aggressive treatment (prospective data). Results: Postoperative hospital stays were shorter in the patients submitted to aggressive treatment (p < 0.046). There were 7 deaths in group A, 1 in group B, and 2 in group C. However, the classical level of significance of α = 0.05 was not reached. Conclusion: Aggressive treatment also proved to be effective when the infection was not resolved with conservative treatment. These findings demonstrate that the proposed treatment provides excellent results.

Keywords: Surgical flaps; Osteomyelitis; Mediastinitis; Thoracic surgery.

Objective: To assess the quality of life (QoL) of patients with cystic fibrosis (CF) followed at a university referral center for CF. Methods: A cross-sectional study involving application of the Cystic Fibrosis Questionnaire (CFQ) and Shwachman score in CF patients between April of 2008 and June of 2009. Results: The sample consisted of 75 patients. The mean age was 12.5 ± 5.1 years (range, 6.1-26.4 years). The patients were divided into three groups by age in years: group I (< 12), II (12-14), and III (≥ 14). The highest and lowest CFQ scores were for the nutrition domain in group III (89.3 ± 16.2) and the social domain in group II (59.5 ± 22.3), respectively. Groups I and III differed significantly regarding the treatment domain (p = 0.001). Regarding Shwachman scores, there were significant differences between patients scoring ≤ 70 and those scoring > 70 in the social (group I; p = 0.045), respiratory (group II; p = 0.053), and digestive (p = 0.042) domains. In group III, severity did not correlate with QoL. In groups I and II, patients with an FEV1 < 80% of predicted did not differ from other patients for any CFQ domain. However, in group III, values for the following domains were significantly lower in patients with an FEV1 < 80%: physical (p = 0.012); body image (p = 0.031); respiratory (p = 0.023), emotional (p = 0.041); and social role (p = 0.024). Conclusions: It is important to assess QoL in CF patients, because it can improve treatment compliance.

Keywords: Cystic fibrosis; Quality of life; Questionnaires.

Cystic adenomatoid malformation of the lung is a rare form of congenital pulmonary disease. It has been found in all lobes, it is rarely bilateral, and is associated to hydramnion, placental edema, and fetal hydrops. It is divided into three types, with different clinical and histologic characteristics. Intrauterine diagnosis is possible by means of ultrasound examination, and the treatment of choice is lobectomy. The authors describe four cases seen at their hospital and review the literature.

Keywords: Cystic adenomatoid malformation. Congenital malformation. Lung.

Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions.

Keywords: Cystic fibrosis/diagnosis; Cystic fibrosis/therapy; Cystic fibrosis/complications; Practice guideline.

Objective: Video-assisted thoracoscopic surgery (VATS) has been a surgical intervention of choice for the treatment of spontaneous pneumothorax (SP) with lung bulla. Our objective was to introduce a uniportal VATS approach for simultaneous bilateral bullectomy and to evaluate its therapeutic efficacy. Methods: Between May of 2011 and January of 2012, five patients underwent bilateral bullectomy conducted using this approach. All of the patients presented with bilateral SP. Preoperative HRCT revealed that all of the patients had bilateral apical bullae. We reviewed the surgical indications, surgical procedures, and outcomes. Results: All of the patients were successfully submitted to this approach for bilateral bullectomy, and there were no intraoperative complications. The median time to chest tube removal was 4.2 days, and the median length of the postoperative hospital stay was 5.2 days. The median postoperative follow-up period was 11.2 months. One patient experienced recurrence of left SP three weeks after the surgery and underwent pleural abrasion. Conclusions: Bilateral bullectomy through uniportal VATS combined with contralateral access to the anterior mediastinum is technically reliable and provides favorable surgical outcomes for patients with bilateral SP who develop bilateral apical bullae. However, among other requirements, this surgical procedure demands that surgeons be experienced in VATS and that the appropriate thoracoscopic instruments are available.

Keywords: Pneumothorax; Thoracic surgery, video-assisted; Pleural cavity; Mediastinum.

Objective: Cystic fibrosis (CF) is a chronic multisystemic hereditary disease for which a multidisciplinary approach must be taken. The objective of this study was to show the evolution of a group of patients with CF after the implementation of multidisciplinary treatment. Methods: A retrospective study involving 19 patients (6-29 years of age) under clinical follow-up treatment at the University of São Paulo at Ribeirão Preto School of Medicine Hospital das Clínicas, located in the city of Ribeirão Preto, Brazil. The patients were divided into two groups: 6-12(6-12 years of age) and 13+ (> 12 years of age). We collected data regarding body mass index (BMI), Zscore, Shwachman score (SS), number of exacerbations/year, chronic colonization by Pseudomonas aeruginosa, and spirometric measurements (FVC, FEV1, FEV1%, and FEF25-75%). Data were collected at two different time points (before and after the implementation of the multidisciplinary treatment) and were analyzed with the Wilcoxon signed rank test. Results: The median age at the onset of symptoms was 10 months. In the 6-12 group, only BMI and FVC increased significantly. Although the other spirometric values increased, the differences were not significant. In the 13+ group, there were no significant differences between the two time points. There was a borderline significant decrease in SS and less than significant decreases in the spirometric measurements. However, the number of patients with alterations in volumes and flows decreased in both groups. Conclusions: Although our patient sample was small, the lack of changes in the spirometric parameters might reflect clinical and functional stability. In all of the patients evaluated, clinical, functional, and nutritional parameters remained stable throughout the study period. The implementation of a multidisciplinary approach might have contributed to this result.

Keywords: Cystic fibrosis; Spirometry; Body mass index; Physical therapy modalities.

Objective: To determine the prevalence of allergic bronchopulmonary aspergillosis (ABPA) in patients with cystic fibrosis treated at a referral center in the state of Bahia, Brazil. Methods: A cross-sectional study, with prospective data collection, carried out at the Cystic Fibrosis Referral Center of Bahia of the Octávio Mangabeira Specialized Hospital. We evaluated 74 patients diagnosed with cystic fibrosis, older than six years of age, treated between December 9, 2003 and March 7, 2005. We analyzed the following variables: gender, age, forced vital capacity, forced expiratory volume in one second, pharmacodynamic response, chest X-ray findings, facial sinus X-ray findings, wheezing, cultures for Aspergillus spp., total immunoglobulin E (IgE), specific IgE for Aspergillus fumigatus and immediate skin test reactivity to A. fumigatus antigen. Results: Of the 74 patients, 2 were diagnosed with ABPA. We found total IgE levels > 1,000 IU/mL in 17 (23%), positive immediate skin reactivity to A. fumigatus antigen in 19 (25.7%) and wheezing in 60 (81.1%). Conclusions: The prevalence of ABPA was 2.7%. The high levels of total IgE, high incidence of wheezing and high rate of immediate skin test reactivity to A. fumigatus antigen suggest that these patients should be carefully monitored due to their propensity to develop ABPA.

Keywords: Cystic fibrosis; Aspergillosis, allergic bronchopulmonary; Immunoglobulin E/diagnostic use; Hypersensitivity, immediate/diagnosis; Gliotoxin.

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.

This study carries out a descriptive and comparative analysis of the various types of cystic fibrosis severity scores described in the literature and contextualizes the origin and objective of each. A total of 16 scoring systems were found: 8 are used predominantly for clinical evaluation, 5 for radiographic findings, 2 for tomographic findings and 1 for scintigraphic findings. Despite the criticism and controversy regarding these instruments of assessment, they have contributed to a better understanding of the disease and to the development of more effective therapeutic procedures.

Keywords: Severity of illness index. Cystic fibrosis. Review literature.

Objective: To identify the predictive factors of oxygen desaturation during the six-minute walk test (6MWT) in patients with cystic fibrosis (CF). Methods: Prospective cross-sectional study involving clinically stable patients with CF aged ≥ 10 years. The patients were submitted to nutritional evaluations, oral glucose tolerance tests, pulmonary function tests, chest X-rays and 6MWTs. Results: The study included 88 patients (43 females and 45 males; mean age, 19.9 ± 7.2 years; mean FEV1, 65.4 ± 28.4%). We observed oxygen desaturation in 13 patients (OD+ group) and no oxygen desaturation in 75 (OD− group). In comparison with OD− group patients, OD+ group patients presented higher mean age (p = 0.004), worse clinical score (p < 0.001), worse radiological score (p < 0.001), higher incidence of glucose intolerance (p = 0.004), lower incidence of methicillin-sensitive Staphylococcus aureus infection (p < 0.001), higher incidence of methicillin-resistant S. aureus infection (p = 0.016), higher incidence of Pseudomonas aeruginosa infection (p = 0.008), lower mean resting SpO2 (p < 0.001) and lower mean FEV1 (p < 0.001). In the logistic regression analysis, oxygen desaturation during the 6MWT correlated with resting SpO2 (OR = 0.305, p < 0.001) and FEV1 (OR = 0.882, p = 0.025). The parameters maximizing the predictive value for oxygen desaturation were resting SpO2 < 96% and FEV1 < 40%. In this sample, 15% of the patients with CF aged ≥ 10 years presented oxygen desaturation during the 6MWT. Conclusions: Resting SpO2 < 96% and FEV1 < 40% can predict oxygen desaturation during the 6MWT.

Keywords: Cystic fibrosis; Respiratory function tests; Exercise tolerance.