Objective: To assess proteinuria in patients with cystic fibrosis (CF), and to correlate proteinuria with genotype, CF-related diabetes and disease severity. Methods: A prospective study was carried out over a six-month period and involving 22 CF patients. After the collection and analysis of 24-h urine samples, the patients were divided into two subgroups: protein excretion < 150 mg/day (low-proteinuria); and protein excretion ≥ 150 mg/day (high-proteinuria). Patient charts were reviewed to obtain data on genotype and CF-related diabetes. Disease severity was assessed based on acute exacerbations in the last six months and FEV1 measured during the study period. To assess the correlation between genotype and proteinuria, the two main mutations (ΔF508 and R334W) were evaluated. Due to the existence of genotype ΔF508/R334W, two categories were created to enable statistical analysis, ΔF508 being evaluated in category 1 and R334W being evaluated in category 2. Results: The ΔF508 mutation tended to be associated with normal protein excretion: 100% of the low-proteinuria subgroup patients were considered ΔF508 in category 1, compared with 86.7% in category 2. Protein excretion tended to be higher in patients with the R334W mutation: 60.0% of the high-proteinuria subgroup patients were considered R334W in category 1, compared with 80.0% in category 2 (p = 0.009 and p = 0.014, respectively). No significant association was found for any of the other variables. Conclusions: The results suggest that genotype is associated with renal phenotype, depending on the mechanism by which the genotype alters the function of the cystic fibrosis transmembrane conductance regulator gene.

Keywords: Proteinuria; Cystic fibrosis; Genotype.

Objective: To evaluate the association between nutritional status measurements and pulmonary function in children and adolescents with cystic fibrosis. Methods: We evaluated the nutritional status of 48 children and adolescents (aged 6-18 years) with cystic fibrosis based on body mass index (BMI) and body composition measurements-mid-arm muscle circumference (MAMC) and triceps skinfold thickness (TST)-at a referral center in the city of Rio de Janeiro, Brazil. Pulmonary function was assessed by means of spirometry, using FEV1 to classify the severity of airway obstruction. We used Student's t-tests for comparisons between proportions and linear regression analysis for associations between continuous variables. The level of significance was set at p < 0.05. Results: The evaluation of nutritional status based on BMI identified a smaller number of malnourished patients than did that based on MAMC (14 vs. 25 patients, respectively). Most of the patients presented mild pulmonary disease. Mean FEV1 was 82.5% of predicted. Pulmonary function was found to correlate significantly with BMI, MAMC and TST (p = 0.001, p = 0.001 and p = 0.03, respectively). All subjects with moderate or severe pulmonary involvement were considered malnourished based on BMI and body composition parameters. Of the 25 patients considered malnourished based on body composition (MAMC), 19 were considered well-nourished based on their BMI. Conclusions: In the present study, all nutritional status measurements correlated directly with the pulmonary function of children and adolescents with cystic fibrosis. However, body composition measurements allowed earlier detection of nutritional deficiencies.

Keywords: Cystic fibrosis; Body composition; Spirometry; Nutrition assessment.

Objective: To determine the relationship between nutritional status and dietary intake in patients with cystic fibrosis. Methods: Cross-sectional study involving 85 cystic fibrosis patients between 6 and 18 years of age. Dietary intake was evaluated by the 3-day diet record (weighing the food consumed). The outcome measures were the following nutritional status indicators: weight/height (W/H%) percentage, body mass index (BMI) percentiles, Z score for weight/age (W/A), Z score for height/age (H/A) and percentage of dietary intake compared with the Recommended Dietary Allowance (RDA). Results: The prevalence of well-nourished patients was 77.7%, using BMI above the 25th percentile as the cut-off value, and the W/H% was above 90% in 83.5%. The mean dietary intake, evaluated in 82 patients, was 124.5% of the RDA. In the univariate logistic regression analyses, we found a significant association between the independent variable calorie intake and the Z score for W/A. The multivariate analysis, based on the Z score for H/A and adjusted for FEV1, methicillin-resistant Staphylococcus aureus colonization and number of hospitalizations, demonstrated that a 1% increase in the calorie intake decreases the chance of having short stature by 2% (OR: 0.98; 95% CI: 0.96-1.00). Maternal level of education showed a borderline association (p = 0.054). Conclusions: The prevalence of malnutrition was low in this sample of patients. The study model demonstrated an association between dietary intake and nutritional status. Dietary intake was a predictive factor of statural growth in patients with cystic fibrosis.

Keywords: Cystic fibrosis; Nutritional status; Diet records; Child; Adolescent.

Background: Cystic fibrosis (CF) is a disease marked by airway inflammation and airflow obstruction, resulting in air trapping in the lungs. Objective: To assess the associations between airflow limitation, pulmonary volume and X-ray findings in patients with cystic fibrosis. Method: A cross-sectional retrospective study. Review of spirometric, plethysmographic, and chest X-ray findings of outpatients (age ³ 16 years). The airflow findings were classified as within normal limits or as airflow obstruction: mild, moderate or severe obstructive alteration. Results: A total of 23 patients (15 male and eight female; mean age, 21 ± 5.9 years) were studied. Six of them were within normal limits, four had a mild, five had a moderate, and eight had a severe obstructive alteration. There was an association between airflow limitation and the increase of residual volume (p = 0.006) and also with the Brasfield score (p = 0.001), but not with the total lung capacity (p = 0.33). There was a correlation between residual volume and Brasfield score (r = 0,73, p = 0,002), but not with the total pulmonary capacity. Moreover, according to X-ray criteria, the air trapping was correlated only with the residual volume (p = 0.006). Conclusion: In patients with cystic fibrosis (age ³ 16 years), the progressive airflow limitation is accompanied by an increase in residual volume, while the total pulmonary capacity remains normal or tends to decrease. The X-ray score was associated with airflow limitation and residual volume, but not with total lung capacity.

Keywords: Cystic fibrosis. Pulmonary disease. Lung volume measurements. Radiography, thoracic.

Objective: To correlate health-related quality of life (HRQL) of women with COPD with clinical parameters and with the six-minute walk distance (6MWD; six-minute walk test). Methods: Cross-sectional study involving 30 female patients diagnosed with mild or moderate COPD treated at the Respiratory Outpatient Clinic of the Presidente Dutra University Hospital. Patients completed the Saint George's Respiratory Questionnaire (SGRQ) and were evaluated in terms of respiratory pressures, spirometry parameters and 6MWD. Descriptive statistical analysis was carried out, as were Student's t-tests for dependent variables, together with Pearson's and Spearman's correlation coefficients for numerical and ordinal variables, respectively. Results: According to the SGRQ total scores, HRQL was impaired, to some extent, in most of the participants. Most SGRQ total scores were between the second and the third quartiles, reflecting poor HRQL. The participants also presented poor functional capacity. Mean 6MWD (317.7 m), inspiratory muscle strength (−53.48 cmH2O) and expiratory muscle strength (69.5 cmH2O) were all below reference values. We found that HRQL was not correlated with body mass index or pulmonary function. However, HRQL presented a negative linear correlation with age, MIP and 6MWD, as well as a positive correlation with the sensation of dyspnea and fatigue. Conclusions: In this study, HRQL, determined using the SGRQ, was severely impaired in COPD patients, who presented severe limitations in functional capacity, breath control and personal life.

Keywords: Quality of life; Pulmonary disease, chronic obstructive; Women.

INTRODUCTION: Cystic Fibrosis is usually diagnosed in childhood. In Brazil, few studies have approached CF diagnosed in adulthood. OBJECTIVE:The aim of this study was to describe demographic and clinical characteristics and spirometric data of patients with CF diagnosed in adulthood (over 16 years of age) in Bahia, Brazil. METHODS: Twenty-eight patients with cystic fibrosis diagnosed in adulthood were evaluated at the Reference Center of Cystic Fibrosis of the state of Bahia. Variables of interest were age, gender, race, body mass index (BMI), sputum culture, presence of sinusitis and bronchiectasis, spirometric tests with the best values performed for forced expiratory volume in the first second (FEV1), forced vital capacity (FVC) and response to bronchodilators. RESULTS: Mean age of diagnosis was 31.1 ± 12.4 years. Of the patients, 53.4% were black and mulatto and the mean BMI was 18.7 ± 3.0 kg/m2. P aeruginosa was present in 12 (43%) of the total patients. The mean percentages ± SD of FVC and FEV1 were 58.9 ± 21.6% and 44.1 ± 23%, respectively. In the group of patients with presence of P. aeruginosa in sputum cultures, mean of the spirometry parameters were lower than those of the P. aeruginosa-free group. However, this difference achieved a statistically significant difference (p = 0.0007) only in FVC . CONCLUSIONS: In agreement with many authors, this study strengthen the point of view that CF must be investigated in patients with recurrent infections, sinusitis and bronchiectasis even in adulthood. Values of the percentages of FVC and FEV1 in relation to those foreseen were lower in patients bearers of P. aeruginosa thereby showing a higher deterioration of the pulmonary function.

Keywords: Cystic fibrosis/diagnosis. Adult. Spirometry/methods.

Once considered a childhood disease, cystic fibrosis is now also a disease of adults. Increased longevity has resulted in the aging of the cystic fibrosis population. The consequent age-related medical problems among adults with cystic fibrosis have increased medical care needs. These needs are being met by a growing number of non-pediatric pulmonologists and other non-pediatric specialists. The objective of this review was to summarize the current knowledge about diagnosis and treatment in adult cystic fibrosis. In most cases, the diagnosis is suggested by manifestations of chronic sinopulmonary disease and exocrine pancreatic insufficiency. The diagnosis is confirmed by a positive sweat test result. Adult patients may, however, present pancreatic sufficiency and atypical clinical features, sometimes in combination with normal or borderline sweat test results. In such cases, identifying cystic fibrosis mutations and measuring nasal potential difference can have diagnostic utility. The standard therapeutic approach to pulmonary disease includes the use of antibiotics, airway clearance, exercise, mucolytics, bronchodilators, oxygen therapy, anti-inflammatory agents and nutritional support. Appropriate application of these therapies results in most cystic fibrosis patients surviving into adulthood with an acceptable quality of life.

Keywords: Cystic fibrosis; Diagnosis; Therapeutics; Mucoviscidosis.

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.

The correlation between resistance to pyrazinamide (PZA) and resistance to other first-line antituberculosis drugs was investigated in 395 Mycobacterium tuberculosis strains isolated from clinical specimens, representing 14% of the overall number of M. tuberculosis isolates obtained between 2003 and 2008 at the laboratory of a referral university hospital for tuberculosis. A high correlation was found between resistance to PZA and multidrug resistance, as well as between PZA resistance and resistance to rifampin, isoniazid, and ethambutol (p < 0.01 for all). These results highlight the importance of performing PZA susceptibility testing prior to the prescription of this drug in order to treat drug-resistant and multidrug-resistant tuberculosis.

Keywords: Tuberculosis/drug therapy; Tuberculosis/microbiology; Antibiotics, antitubercular.

Introduction: Spirometry and analysis of blood gases data have been extensively used to assess ventilatory limitation and prognosis of COPD patients. However, functional physical tests, such as the six-minute walk test (6wt) have been used for the dynamic assessment of COPD patients. Objective: To determine correlations between respiratory function test data and the six-minute walk test in COPD patients. Patients and methods: 45 patients were submitted to clinical history survey and complete physical examination performed by the medical staff of the Pneumology Department of the Brasilia University Hospital, followed by spirometry, analysis of arterial blood gases, maximal respiratory pressures data, and the six-minute walk test. Results: Concerning the spirometric, analysis of blood gases and maximal respiratory pressures data, statistically significant positive correlations (p < 0.05) between FEV1, PaO2, SpO2, MEP and the six-minute walk test were obtained. Conclusions: For the studied group, the six minute walk test has significant correlation with FEV1, PaO2, SpO2 and MEP, and can be used as an alternative functional assessment of COPD patients.

Objective: To determine the effects that mutation of the cystic fibrosis transmembrane conductance regulator (CFTR) gene and deletion of the glutathione S-transferase (GST) genes mu-1 (GSTM1) and theta-1 (GSTT1) have on the clinical course of cystic fibrosis (CF) in patients residing in the southeastern region of Brazil. Methods: The study sample consisted of all consecutive CF patients treated at the Hospital de Clínicas School of Medical Sciences of the State University at Campinas between March of 2002 and March of 2005. We included 66 CF patients. Genomic DNA was analyzed by polymerase chain reaction and restriction endonuclease digestion for the identification of the genotypes. Results: The F508 mutation of the CFTR gene was found in 44 patients (66.7%). The null genotypes GSTM1, GSTT1 and GSTM1/GSTT1 were found in 40.9%, 15.2%, and 3.0% of the patients, respectively. The F508 CFTR mutation was more common in patients diagnosed with CF before 2.5 years of age than in those diagnosed later (75.5% vs. 41.2%; p = 0.008). The frequency of the F508 CFTR mutation, as well as of the GSTM1 and GSTT1 genotypes, was not found to be associated with gender, ethnicity, pulmonary disease status, or pancreatic disease status. Conclusions: When the patients were stratified by clinical and epidemiological features, the frequencies of the GSTM1 and GSTT1 null genotypes were similar, suggesting that the inherited absence of these enzymatic pathways does not alter the course of CF. However, the high frequency of the F508 CFTR mutation found in younger children suggests that it influences the age at diagnosis of CF in this region of Brazil.

Keywords: : Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Glutathione transferase.

Objective: To describe clinical and laboratory characteristics in patients with tuberculosis-related or lymphoma-related lymphocytic pleural effusions, in order to identify the variables that might contribute to differentiating between these diseases. Methods: This was a retrospective study involving 159 adult HIV-negative patients with tuberculosis-related or lymphoma-related lymphocytic effusions (130 and 29 patients, respectively), treated between October of 2008 and March of 2010 at the Pleural Diseases Outpatient Clinic of the University of São Paulo School of Medicine Hospital das Clínicas Heart Institute, in the city of São Paulo, Brazil. Results: Mean age and the mean duration of symptoms were lower in the tuberculosis group than in the lymphoma group. The levels of proteins, albumin, cholesterol, amylase, and adenosine deaminase (ADA) in pleural fluid, as well as the serum levels of proteins, albumin, and amylase, were higher in the tuberculosis group, whereas serum cholesterol and triglycerides were higher in the lymphoma group. Pleural fluid leukocyte and lymphocyte counts were higher in the tuberculosis group. Of the tuberculosis group patients, none showed malignant cells; however, 4 showed atypical lymphocytes. Among the lymphoma group patients, cytology for neoplastic cells was positive, suspicious, and negative in 51.8%, 24.1%, and 24.1%, respectively. Immunophenotyping of pleural fluid was conclusive in most of the lymphoma patients. Conclusions: Our results demonstrate clinical and laboratory similarities among the patients with tuberculosis or lymphoma. Although protein and ADA levels in pleural fluid tended to be higher in the tuberculosis group than in the lymphoma group, even these variables showed an overlap. However, none of the tuberculosis group patients had pleural fluid ADA levels below the 40-U/L cut-off point.

Keywords: Pleural effusion; Tuberculosis; Lymphoma; Adenosine deaminase; Diagnosis, differential.

Objective: To investigate the diagnostic accuracy of a chest X-ray (CXR) score and of clinical and laboratory data in predicting the clinical course of patients with SARS coronavirus 2 (SARS-CoV-2) infection. Methods: This is a pilot multicenter retrospective study including patients with SARS-CoV-2 infection admitted to the ERs in three hospitals in Italy between February and March of 2020. Two radiologists independently evaluated the baseline CXR of the patients using a semi-quantitative score to determine the severity of lung involvement: a score of 0 represented no lung involvement, whereas scores of 1 to 4 represented the first (less severe) to the fourth (more severe) quartiles regarding the severity of lung involvement. Relevant clinical and laboratory data were collected. The outcome of patients was defined as severe if noninvasive ventilation (NIV) or intubation was necessary, or if the patient died. Results: Our sample comprised 140 patients. Most of the patients were symptomatic (132/138; 95.7%), and 133/140 patients (95.0%) presented with opacities on CXR at admission. Of the 140 patients, 7 (5.0%) showed no lung involvement, whereas 58 (41.4%), 31 (22.1%), 26 (18.6%), and 18 (12.9%), respectively, scored 1, 2, 3, and 4. In our sample, 66 patients underwent NIV or intubation, 37 of whom scored 1 or 2 on baseline CXR, and 28 patients died. Conclusions: The severity score based on CXR seems to be able to predict the clinical progression in cases that scored 0, 3, or 4. However, the score alone cannot predict the clinical progression in patients with mild-to-moderate parenchymal involvement (scores 1 and 2).

Keywords: Coronavirus infections; Radiography, thoracic; Pneumonia; Respiratory insufficiency; Severe acute respiratory syndrome.

Objective: To determine whether the concentrations of inflammatory mediators (CCL5, soluble intercellular adhesion molecule type 1 [sICAM-1], TNF-α, IL-6 and IL-10) in the nasopharyngeal secretion and in the serum of children with lower respiratory tract infection (LRTI) caused by respiratory syncytial virus (RSV) correlate with the clinical markers of disease severity. Methods: Between July of 2004 and December of 2005, 30 children less than three months of age, diagnosed with LRTI caused by RSV and admitted to a neonatal ICU, were included in this study. Results: The severity of disease at hospital admission, as determined with a modified clinical scoring system, presented a significant positive correlation with sICAM-1 and IL-10 concentrations in the nasopharyngeal secretion, as well as with IL-6 concentrations in the serum, of the patients. In addition, serum IL-6 concentrations presented a significant positive correlation with the duration of oxygen therapy and with the length of hospital stay. Conclusions: At hospital admission, the concentrations of sICAM-1 and IL-10 in the nasopharyngeal secretion, as well as the concentration of IL-6 in the serum, could be used as markers of severity in patients with LRTI caused by RSV. The serum levels of IL-6 determined at admission could also be used to predict prolonged oxygen supplementation and hospital stay.

Keywords: Respiratory syncytial virus, human; Chemokine CCL5; Intercellular adhesion molecule-1; Interleukin-6; Interleukin-10; Tumor necrosis factor-alpha.

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.

Although cystic fibrosis (CF) is an irreversible genetic disease, advances in treatment have increased the life expectancy of CF patients. Upper airway involvement, which is mainly due to pathological changes in the paranasal sinuses, is prevalent in CF patients, although many are only mildly symptomatic (with few symptoms). The objective of this literature review was to discuss the pathophysiology and current therapeutic management of chronic rhinosinusitis (CRS) in CF patients. The review was based on current evidence, which was classified in accordance with the Oxford Centre for Evidence-Based Medicine criteria. When symptomatic, CRS with nasal polyps can affect quality of life and can lead to pulmonary exacerbations, given that the paranasal sinuses can be colonized with pathogenic bacteria, especially Pseudomonas aeruginosa. Infection with P. aeruginosa plays a crucial role in morbidity and mortality after lung transplantation in CF patients. Although clinical treatment of the upper airways is recommended as initial management, this recommendation is often extrapolated from studies of CRS in the general population. When sinonasal disease is refractory to noninvasive therapy, surgery is indicated. Further studies are needed in order to gain a better understanding of upper airway involvement and improve the management of CRS in CF patients, with the objective of preserving lung function and avoiding unnecessary invasive procedures.

Keywords: Nose diseases; Cystic fibrosis; Nasal polyps; Paranasal sinuses; Sinusitis.