Pneumothorax is a common complication in cystic fibrosis and is associated with worsening of lung function. However, bilateral simultaneous pneumothorax in cystic fibrosis is a rare condition. We describe the case of a 17-year-old female with cystic fibrosis who presented with spontaneous pneumothorax. Clinically, she presented right-sided chest pain and progressive breathlessness. The pneumothorax failed to resolve after the initial treatment (chest drainage). However, the patient was later successfully treated with additional chest drainage and talc pleurodesis. We also discuss the etiology and management of pneumothorax in patients with cystic fibrosis, since pneumothorax is associated with increased morbidity and mortality among such patients.

Keywords: Cystic fibrosis/physiopathology; Pneumothorax; Pleurodesis.

Hard metal pneumoconiosis, first described in 1964, is a diffuse disease caused by the inhalation of cobalt particles. The disease can manifest as occupational asthma, interstitial disease or allergic alveolitis. We report the case of a young male, working as a tool sharpener, who presented with dry cough and progressive dyspnea for one year, as well as with spontaneous bilateral pneumothorax at admission. The diagnosis was confirmed by open lung biopsy.

Keywords: Lung diseases, interstitial; Pneumoconiosis; Pneumothorax.

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: To determine the prevalence of malnutrition in patients attending an adult cystic fibrosis (CF) program and to investigate the associations of malnutrition with the clinical characteristics of those patients. Methods: This was a cross-sectional study involving patients with clinically stable CF patients (16 years of age or older). The patients underwent clinical assessment, nutritional assessments, pulmonary function tests, and pancreatic function assessment. They also completed a questionnaire regarding diet compliance. On the basis of their nutritional status, the patients were classified divided into three groups: adequate nutrition; at nutritional risk; and malnutrition. Results: The study has included 73 patients (mean age, 25.6 ± 7.3 years), 40 of whom (54.8%) were female. The mean body mass index was 21.0 ± 3.0 kg/m2 and the mean FEV1 was 59.7 ± 30.6% of predicted. In this sample of patients, 32 (43.8%), 23 (31.5%), and 18 (24.7%) of the patients were allocated to the adequate nutrition, nutritional risk, and malnutrition groups, respectively. The logistic regression analysis identified three independent factors associated with the risk of malnutrition: Shwachman-Kulczycki score, percent predicted FEV1; and age. Conclusions: Malnutrition remains a common complication in adolescents and adults with CF, despite dietary advice. Malnutrition is associated with age, clinical severity, and lung function impairment.

Keywords: Cystic fibrosis; Malnutrition; Exocrine pancreatic insufficiency; Respiratory function tests.

Objective: To determine the submaximal exercise capacity of patients with cystic fibrosis (CF) by means of the 6-minute walk test (6MWT), correlating the results with clinical score, nutritional status, radiographic score, and pulmonary function tests. Methods: This was a prospective, cross-sectional study involving patients aged 16 or older enrolled in a program for adults with CF. The patients were submitted to clinical evaluation, determination of maximal respiratory pressures, 6MWT, spirometry, and chest X-ray. Results: The study comprised 41 patients. The mean age was 23.7 ± 6.5 years, and the mean forced expiratory volume in one second (FEV1) was 55.1 ± 27.8%. On the 6MWT, 30 (73.2%) of the patients covered a distance (mean, 556.7 ± 76.5 m) that was less than the predicted normal value. The distance walked did not correlate significantly with body mass index, clinical score, radiographic score, maximal respiratory pressures, peripheral oxygen saturation at rest, desaturation during the 6MWT, sensation of dyspnea, or fatigue, although it did so with age at diagnosis, FEV1 in liters, and forced vital capacity in liters. Worsening of pulmonary function was associated with greater desaturation during the 6MWT. Conclusion: This study showed that most patients attending an adult CF program had reduced submaximal exercise capacity. The 6MWT can be valuable for identifying patients who might experience oxygen desaturation and physical impairment in daily activities.

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

Congenital lobar emphysema is a disease in which symptoms often begin during the first six months of age. In this report, the authors present the case of a twenty-year-old woman whose symptoms started when she had a spontaneous pneumothorax, an exceptional occurrence. The possible etiologies for that congenital lung malformation and the reasons for the performance of a conservative treatment are discussed.

Keywords: Pulmonary emphysema. Pneumothorax. Abnormalities.

Objective: To determine the prevalence of pulmonary hypertension (PH) in patients with cystic fibrosis (CF), to compare clinical characteristics, radiographic scores, pulmonary function, and echocardiographic parameters in patients with and without PH, and to correlate echocardiographic findings with clinical characteristics, radiographic scores, and pulmonary function. Methods: This was a prospective, cross-sectional study involving clinically stable patients (aged 16 or older) enrolled in an adult CF program. The patients were submitted to clinical evaluation, Doppler echocardiography, pulmonary function tests, and chest X-rays. Results: Tricuspid regurgitant jet velocity (TRV) was obtained in 37 of the 40 patients studied. The prevalence of PH was 49% with a TRV cut-off of 2.5 m/s (18 patients) and 30% with a TRV cut-off of 2.8 m/s (11 patients). Peripheral oxygen saturation (SpO2) at rest, clinical score, forced expiratory volume in one second (FEV1), and forced vital capacity (FVC) were significantly lower in the group with PH. The TRV was found to correlate significantly with SpO2 at rest (p < 0.001), clinical score (p < 0.001), radiographic score (p = 0.030), FEV1 in liters (p < 0.001) and in % of predicted (p < 0.001), and FCV in liters (p = 0.008) and in % of predicted (p = 0.001). The single best predictor of TRV was SpO2 at rest (p < 0.001). Conclusion: The high prevalence of PH in the CF patients studied suggests that PH should be considered in the evaluation and follow-up treatment of such patients. The best predictor of PH was SpO2 at rest.

Keywords: Cystic fibrosis; Tricuspid valve/physiopathology; Hypertension, pulmonary; Echocardiography, Doppler.

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.

Cystic fibrosis-related diabetes (CFRD) is the principal extra-pulmonary complication of cystic fibrosis, occurring in 15-30% of adult cystic fibrosis patients. The number of cystic fibrosis patients who develop diabetes is increasing in parallel with increases in life expectancy. The aim of this study was to review the physiopathology, clinical presentation, diagnosis and treatment of CFRD. A bibliographic search of the Medline and Latin American and Caribbean Health Sciences Literature databases was made. Articles were selected from among those published in the last twenty years. Insulin deficiency, caused by reduced β-cell mass, is the main etiologic mechanism, although insulin resistance also plays a role. Presenting features of type 1 and type 2 diabetes, CFRD typically affects individuals of approximately 20 years of age. It can also be accompanied by fasting, non-fasting or intermittent hyperglycemia. Glucose intolerance is associated with worsening of nutritional status, increased morbidity, decreased survival and reduced pulmonary function. Microvascular complications are always present, although macrovascular complications are rarely seen. An oral glucose tolerance test is recommended annually for patients ≥ 10 years of age and for any patients presenting unexplained weight loss or symptoms of diabetes. Patients hospitalized with severe diseases should also be screened. If fasting hyperglycemia persists for more than 48 h, insulin therapy is recommended. Insulin administration remains the treatment of choice for diabetes and fasting hyperglycemia. Calories should not be restricted, and patients with CFRD should be managed by a multidisciplinary team.

Keywords: Cystic fibrosis; Diabetes mellitus.

Objective: To test the hypothesis that disease severity in patients with cystic fibrosis (CF) is correlated with an increased risk of sleep apnea. Methods: A total of 34 CF patients underwent clinical and functional evaluation, as well as portable polysomnography, spirometry, and determination of IL-1β levels. Results: Mean apnea-hypopnea index (AHI), SpO2 on room air, and Epworth Sleepiness Scale score were 4.8 ± 2.6, 95.9 ± 1.9%, and 7.6 ± 3.8 points, respectively. Of the 34 patients, 19 were well-nourished, 6 were at nutritional risk, and 9 were malnourished. In the multivariate model to predict the AHI, the following variables remained significant: nutritional status (β = −0.386; p = 0.014); SpO2 (β = −0.453; p = 0.005), and the Epworth Sleepiness Scale score (β = 0.429; p = 0.006). The model explained 51% of the variation in the AHI. Conclusions: The major determinants of sleep apnea were nutritional status, SpO2, and daytime sleepiness. This knowledge not only provides an opportunity to define the clinical risk of having sleep apnea but also creates an avenue for the treatment and prevention of the disease.

Keywords: Cystic fibrosis; Oxygenation; Sleep apnea, obstructive.

Objective: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

Keywords: Cystic fibrosis; Neonatal screening; Quality of life; Genetic diseases, inborn; Lung diseases.

Spontaneous pneumomediastinum is an uncommon event, the clinical picture of which includes retrosternal chest pain, subcutaneous emphysema, dyspnea, and dysphonia. The pathophysiological mechanism involved is the emergence of a pressure gradient between the alveoli and surrounding structures, causing alveolar rupture with subsequent dissection of the peribronchovascular sheath and infiltration of the mediastinum and subcutaneous tissue with air. Known triggers include acute exacerbations of asthma and situations that require the Valsalva maneuver. We described and documented with HRCT scans the occurrence of pneumomediastinum after a patient with bleomycin-induced interstitial lung disease underwent pulmonary function testing. Although uncommon, the association between pulmonary function testing and air leak syndromes has been increasingly reported in the literature, and lung diseases, such as interstitial lung diseases, include structural changes that facilitate the occurrence of this complication.

Keywords: Mediastinal emphysema; Subcutaneous emphysema; Spirometry; Bleomycin.

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.

Sleep studies conducted at an altitude that is different from the home altitude can yield misleading results regarding the severity of obstructive sleep apnea (OSA). The objective of the present study was to determine the sleep characteristics of a patient undergoing polysomnography (PSG) in three Colombian cities at different altitudes (Bogotá, at 2,640 m above sea level [ASL]; Bucaramanga, at 959 m ASL; and Santa Marta, at 15 m ASL). The patient was an obese man with diabetes and suspected OSA. All PSG recordings were scored and interpreted in accordance with American Academy of Sleep Medicine criteria. In Bogotá, PSG revealed moderate OSA (an apnea-hypopnea index [AHI] of 21 events/h); in Bucaramanga, PSG revealed increased upper airway resistance (an AHI of 2 events/h); in Santa Marta, PSG revealed mild OSA (an AHI of 7 events/h). The reduction in the AHI was predominantly a reduction in hypopneas and obstructive apneas. The respiratory events were shorter in duration in the city at an intermediate altitude. Given that the AHI varied widely across cities, we can assume that the patient is normal or has moderate OSA depending on the city where he is. Central apneas were found to have no influence on the AHI.

Keywords: Sleep apnea, obstructive; Polysomnography; Altitude.

Objective: To compare the outcomes of thoracotomy and video-assisted thoracoscopic surgery (VATS) in the treatment of recurrence of primary spontaneous pneumothorax. Methods: Medical records of patients presenting recurrence of primary spontaneous pneumothorax were retrospectively reviewed. Patients were divided into two groups: those who underwent conservative thoracotomy (n = 53, thoracotomy group); and those who underwent VATS (n = 47, VATS group). Results: Although there were no deaths in either group and the length of hospital stays was similar between the two, there was greater morbidity in the thoracotomy group. Patients in the thoracotomy group required more pain medication for longer periods than did those in the VATS group (p < 0.05). In the thoracotomy group, the rate of recurrence was 3%. Pain was classified as insignificant at one month after the operation by 68% of patients in the VATS group and by only 21% of those in the thoracotomy group (p < 0.05). At three years after the surgical procedure, 97% of the VATS group patients considered themselves completely recovered from the operation, compared with only 79% in the thoracotomy group (p < 0.05). Chronic or intermittent pain, requiring the use of analgesics more than once a month, was experienced by 90% of the thoracotomy group patients and 3% of the VATS group patients. In addition, 13% of the thoracotomy group patients required clinical pain management. Conclusions: We recommend VATS as the first-line surgical treatment for patients with recurrent primary spontaneous pneumothorax.

Keywords: Thoracoscopy; Thoracic surgery, video-assisted; Recurrence; Pneumothorax.

Objectives: To evaluate the self-reported degree of adherence to treatment in patients with cystic fibrosis (CF), investigating associations with characteristics of the disease and with the degree of adherence perceived by health professionals. Methods: This was a prospective, cross-sectional study involving patients with CF monitored at a Program for Adults with CF. The degree of adherence was evaluated using a questionnaire. Patients were divided into two groups: greater degree of adherence and moderate/poor degree of adherence. Clinical data, Shwachman-Kulczycki clinical score, Brasfield radiographic score and spirometry data were obtained for all patients. Results: Out of 38 patients studied, 31 (81.6%) were classified as presenting a greater degree of adherence and 7 (18.4%) as presenting a moderate/poor degree of adherence. The self-reported patient adherence score correlated with the clinical score (r = −0.36, p = 0.028). The self-reported patient adherence score (median = 0.79) was higher than that perceived by health professionals (median = 0.71, p = 0.003). A greater degree of adherence was self-reported for respiratory therapy (by 84.2%), exercise (by 21.1%), prescribed diet (by 65.8%), pancreatic enzymes (by 96.3%), vitamins (by 79.4%), inhaled antibiotic therapy (by 76.7%) and inhaled DNase (by 79.4%). Conclusions: Self-reported adherence of patients attending a Program for Adults with CF was good. The self-reported patient adherence score correlated inversely with the clinical score. Self-reported patient adherence was greater than the adherence perceived by health professionals.

Keywords: Cystic fibrosis; Patient compliance; Therapeutics.

Objective: To determine the prevalence of nocturnal hypoxemia and its association with pulmonary function, nutritional status, sleep macrostructure, and obstructive respiratory events during sleep in a population of clinically stable children and adolescents with cystic fibrosis (CF). Methods: This was a cross-sectional study involving 67 children and adolescents with CF between 2 and 14 years of age. All of the participants underwent polysomnography, and SpO2 was measured by pulse oximetry. We also evaluated the Shwachman-Kulczycki (S-K) scores, spirometry findings, and nutritional status of the patients. Results: The study involved 67 patients. The mean age of the patients was 8 years. The S-K scores differed significantly between the patients with and without nocturnal hypoxemia, which was defined as an SpO2 < 90% for more than 5% of the total sleep time (73.75  6.29 vs. 86.38  8.70; p < 0.01). Nocturnal hypoxemia correlated with the severity of lung disease, FEV1 (rs = −0.42; p = 0.01), FVC (rs = −0.46; p = 0.01), microarousal index (rs = 0.32; p = 0.01), and apnea-hypopnea index (rs = 0.56; p = 0.01). Conclusions: In this sample of patients with CF and mild-to-moderate lung disease, nocturnal oxygenation correlated with the S-K score, spirometry variables, sleep macrostructure variables, and the apnea-hypopnea index.

Keywords: Cystic fibrosis; Sleep; Oximetry.