Primary ciliary dyskinesia (PCD) is a genetic disorder that is typically inherited in an autosomal recessive manner. It is clinically characterized by recurrent respiratory infections. However, its repercussions for patient quality of life should not be overlooked. Studies have shown that PCD has a significant impact on the lives of patients, although there are as yet no PCD-specific markers of quality of life. To address that problem, researchers in the United Kingdom developed a quality-of-life questionnaire for patients with PCD. The present communication focuses on the process of translating that questionnaire into Brazilian Portuguese, through a partnership between researchers in Brazil and those in the United Kingdom, as well as its subsequent application in patients in Brazil.

Keywords: Quality of life; Kartagener syndrome; Surveys and questionnaires.

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.

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.

Primary ciliary dyskinesia (PCD), previously known as immotile cilia syndrome, is an autosomal recessive hereditary disease that includes various patterns of ciliary ultrastructural defects. The most serious form is Kartagener syndrome (KS), which accounts for 50% of all cases of PCD. The incidence of PCD ranges from 1:20,000 to 1:60,000. Since PCD causes deficiency or even stasis of the transport of secretions throughout the respiratory tract, it favors the growth of viruses and bacteria. As a result, patients have lifelong chronic and recurrent infections, typically suffering from bronchitis, pneumonia, hemoptysis, sinusitis, and infertility. Bronchiectasis and other chronic conditions infections can be the end result of the irreversible bronchial alterations, leading to chronic cor pulmonale and its consequences. Only half of the patients affected by PDC present all of the symptoms, a condition designated complete KS, compared with incomplete KS, typically defined as cases in which situs inversus does not occur. The diagnosis is made clinically and confirmed through transmission electron microscopy. Since there is no specific therapy for PCD, it is recommended that, upon diagnosis, secondary infections be treated with potent antibiotics and prophylactic interventions be implemented. In this paper, we report six cases of PCD (five cases of complete KS and one case of KS) and review the related literature, focusing on the diagnostic, therapeutic and clinical aspects of this disease.

Keywords: Kartagener syndrome; Ciliary motility disorders; Bronchiectasis; Dextrocardia.

Objective: To develop a set of descriptive terms applied to the sensation of dyspnea (dyspnea descriptors) for use in Brazil and to investigate the usefulness of these descriptors in four distinct clinical conditions that can be accompanied by dyspnea. Methods: We collected 111 dyspnea descriptors from 67 patients and 10 health professionals. These descriptors were analyzed and reduced to 15 based on their frequency of use, similarity of meaning, and potential pathophysiological value. Those 15 descriptors were applied in 50 asthma patients, 50 COPD patients, 30 patients with heart failure, and 50 patients with class II or III obesity. The three best descriptors, as selected by the patients, were studied by cluster analysis. Potential associations between the identified clusters and the four clinical conditions were also investigated. Results: The use of this set of descriptors led to a solution with seven clusters, designated sufoco (suffocating), aperto (tight), rápido (rapid), fadiga (fatigue), abafado (stuffy), trabalho/inspiração (work/inhalation), and falta de ar (shortness of breath). Overlapping of descriptors was quite common among the patients, regardless of their clinical condition. Asthma was significantly associated with the sufoco and trabalho/inspiração clusters, whereas COPD and heart failure were associated with the sufoco, trabalho/inspiração, and falta de ar clusters. Obesity was associated only with the falta de ar cluster. Conclusions: In Brazil, patients who are accustomed to perceiving dyspnea employ various descriptors in order to describe the symptom, and these descriptors can be grouped into similar clusters. In our study sample, such clusters showed no usefulness in differentiating among the four clinical conditions evaluated.

Keywords: Dyspnea; Pulmonary disease, chronic obstructive; Asthma; Heart failure.

Objective: To assess asthma patients in Brazil in terms of the level of asthma control, compliance with maintenance treatment, and the use of rescue medication. Methods: We used data from a Latin American survey of a total of 400 asthma patients in four Brazilian state capitals, all of whom completed a questionnaire regarding asthma control and treatment. Results: In that sample, the prevalence of asthma was 8.8%. Among the 400 patients studied, asthma was classified, in accordance with the Global Initiative for Asthma criteria, as controlled, partially controlled, and uncontrolled in 37 (9.3%), 226 (56.5%), and 137 (34.3%), respectively. In those three groups, the proportion of patients on maintenance therapy in the past four weeks was 5.4%, 19.9%, and 41.6%, respectively. The use of rescue medication was significantly more common in the uncontrolled asthma group (86.9%; p < 0.001). Conclusions: Our findings suggest that, in accordance with the established international criteria, asthma is uncontrolled in the vast majority of asthma patients in Brazil. Maintenance medications are still underutilized in Brazil, and patients with partially controlled or uncontrolled asthma are more likely to use rescue medications and oral corticosteroids.

Keywords: Asthma/therapy; Asthma/prevention and control; Medication adherence.

Objective: To translate the Quebec Sleep Questionnaire (QSQ), a specific instrument for the assessment of quality of life in patients with sleep obstructive apnea, into Portuguese and to create a version that is cross-culturally adapted for use in Brazil. Methods: The Portuguese-language version was developed according to a rigorous methodology, which included the following steps: preparation; translation from English into Portuguese in three versions; reconciliation to a single version; back-translation of that version into English; comparison and harmonization of the back-translation with the original version; review of the Portuguese-language version; cognitive debriefing; text review; and arrival at the final version. Results: The Portuguese-language version of the QSQ for use in Brazil had a clarity score, as measured by cognitive debriefing, ranging from 0.81 to 0.99, demonstrating the consistency of translation and cross-cultural adaptation processes. Conclusions: The process of translating the QSQ into Portuguese and creating a version that is cross-culturally adapted for use in Brazil produced a valid instrument to assess the quality of life in patients with obstructive sleep apnea.

Keywords: Obstructive sleep apnea, Quality of life; Translations; Validation studies.

Objective: To determine primary and acquired resistance to pyrazinamide in Mycobacterium tuberculosis strains isolated in sputum samples from patients with pulmonary tuberculosis. Methods: This was a prospective, descriptive study conducted between April and November of 2011 at a referral hospital for tuberculosis in the city of Recife, Brazil. Cultures, drug sensitivity tests, and tests of pyrazinamidase activity were conducted in a private laboratory in Recife. Results: Of the 71 patients included in the study, 37 were treatment-naïve and 34 represented cases of retreatment. Pyrazinamide-resistant strains were isolated in 14 (41.2%) of the 34 patients who had previously been treated for tuberculosis and in none of the 37 treatment-naïve patients. Of the 14 isolates, 10 (90.9%) tested negative for pyrazinamidase activity. A total of 60 isolates tested positive for pyrazinamidase activity. Of those, 56 (93.3%) were found to be sensitive to pyrazinamide. Conclusions: The high frequency of pyrazinamide-resistant strains (41.2%) in patients previously treated for tuberculosis highlights the need for drug susceptibility testing prior to the adoption of a new treatment regimen.

Keywords: Mycobacterium tuberculosis; Pyrazinamide; Tuberculosis, multidrug-resistant

Objective: To compare individuals with and without hyperhidrosis in terms of the intensity of palmar and plantar sweating. Methods: We selected 50 patients clinically diagnosed with palmoplantar hyperhidrosis and 25 normal individuals as controls. We quantified sweating using a portable noninvasive electronic device that has relative humidity and temperature sensors to measure transepidermal water loss. All of the individuals had a body mass index of 20-25 kg/cm2. Subjects remained at rest for 20-30 min before the measurements in order to reduce external interference. The measurements were carried out in a climate-controlled environment (21-24°C). Measurements were carried out on the hypothenar region on both hands and on the medial plantar region on both feet. Results: In the palmoplantar hyperhidrosis group, the mean transepidermal water loss on the hands and feet was 133.6 ± 51.0 g/m2/h and 71.8 ± 40.3 g/m2/h, respectively, compared with 37.9 ± 18.4 g/m2/h and 27.6 ± 14.3 g/m2/h, respectively, in the control group. The differences between the groups were statistically significant (p < 0.001 for hands and feet). Conclusions: This method proved to be an accurate and reliable tool to quantify palmar and plantar sweating when performed by a trained and qualified professional.

Keywords: Hyperhidrosis; Sweat; Dermatology/instrumentation.

Objective: To investigate the clinical application of CT and CT-guided percutaneous transthoracic needle biopsy (CT-PTNB) in patients with indeterminate pulmonary nodules (IPNs). Methods: We retrospectively studied 113 patients with PNs undergoing CT and CT-PTNB. Variables such as gender, age at diagnosis, smoking status, CT findings, and CT-PTNB techniques were analyzed. Data analysis was performed with the Student's t-test for independent samples the chi-square test, and normal approximation test for comparison of two proportions. Results: Of the 113 patients studied, 68 (60.2%) were male and 78 (69%) were smokers. The diameter of malignant lesions ranged from 2.6 cm to 10.0 cm. Most of the IPNs (85%) were located in the peripheral region. The biopsied IPNs were found to be malignant in 88 patients (77.8%) and benign in 25 (22.2%). Adenocarcinoma was the most common malignant tumor, affecting older patients. The IPN diameter was significantly greater in patients with malignant PNs than in those with benign IPNs (p < 0.001). Having regular contour correlated significantly with an IPN being benign (p = 0.022), whereas spiculated IPNs and bosselated IPNs were more often malignant (in 50.7% and 28.7%, respectively). Homogeneous attenuation and necrosis were more common in patients with malignant lesions (51.9% and 26.9%, respectively) Conclusions: In our sample, CT and CT-PTNB were useful in distinguishing between malignant and benign IPNs. Advanced age and smoking were significantly associated with malignancy. Certain CT findings related to IPNs (larger diameter, spiculated borders, homogeneous attenuation, and necrosis) were associated with malignancy.

Keywords: Solitary pulmonary nodule; Tomography; Image-guided biopsy.

Objective: To translate the European Organisation for Research and Treatment of Cancer (EORTC) 29-item Quality of Life Questionnaire-Lung Cancer Module (QLQ-LC29, developed for the assessment of quality of life in patients with lung cancer) to Portuguese, conducting a pilot study of the Portuguese-language version and adapting it for use in Brazil. Methods: For the translation, cultural adaptation, and pilot testing of the QLQ-LC29, we followed the guidelines established by the EORTC. The translation (English → Portuguese) and back-translation (Portuguese → English) were both carried out by translators, working independently, who were native speakers of one language and fluent in the other. After review, a draft version was created for pilot testing in lung cancer patients in Brazil. Results: A total of 15 patients diagnosed with lung cancer completed the Portuguese-language version of the questionnaire. At the end of the process, we conducted a structured interview to identify any patient difficulty in understanding any of the questions. The final versions were sent to the EORTC and were approved. Conclusions: The Portuguese-language version of the EORTC QLQ-LC29 appears to be a useful, important, reliable questionnaire that is a valid tool for assessing quality of life in patients with lung cancer in Brazil.

Keywords: Surveys and Questionnaires; Lung neoplasms; Quality of Life; Brazil; Translations.

To evaluate the characteristics of users of inhalers and the frequency of inhaler use among adolescents and adults with self-reported physician-diagnosed asthma, bronchitis, or emphysema. Methods: A population-based study conducted in the city of Pelotas, Brazil, involving 3,670 subjects ≥ 10 years of age, evaluated with a questionnaire. Results: Approximately 10% of the sample reported at least one of the respiratory diseases studied. Among those individuals, 59% reported respiratory symptoms in the last year, and, of those, only half reported using inhalers. The use of inhalers differed significantly by socioeconomic status (39% and 61% for the lowest and the highest, respectively, p = 0.01). The frequency of inhaler use did not differ by gender or age. Among the individuals reporting emphysema and inhaler use, the use of the bronchodilator-corticosteroid combination was more common than was that of a bronchodilator alone. Only among the individuals reporting physician-diagnosed asthma and current symptoms was the proportion of inhaler users higher than 50%. Conclusions: In our sample, inhalers were underutilized, and the type of medication used by the individuals who reported emphysema does not seem to be in accordance with the consensus recommendations.

Keywords: Metered dose inhalers; Asthma; Pulmonary disease, chronic obstructive; Bronchitis; Emphysema; Dry powder inhalers.

Objective: To determine the relationships that smoking history has with inflammatory markers, metabolic markers, body composition, muscle strength, and cardiopulmonary capacity in current smokers. Methods: This was a cross-sectional study involving 65 smokers (age range: 18-60 years). On three non-consecutive days, each participant was evaluated in terms of smoking history, pre-existing comorbidities, lung function (by spirometry), peripheral muscle strength (by dynamometry), body composition (by bioelectrical impedance analysis), levels of metabolic/inflammatory markers, and maximum cardiopulmonary capacity (by treadmill exercise test). We evaluated the relationships that smoking history has with inflammatory markers, metabolic markers, body composition, muscle strength, and cardiopulmonary capacity, using logarithmic transformation of the data and calculating Pearson's correlation coefficient and for partial correlations adjusted for age, gender, body mass index (BMI), and comorbidities. To identify the influence of smoking history on pre-existing comorbidities, we used a logistic regression model adjusted for age, BMI, and duration of smoking. Results: Smoking history correlated significantly, albeit weakly, with triglyceride level (r = 0.317; p = 0.005), monocyte count (r = 0.308; p = 0.013), and waist circumference (r = 0.299; p = 0.017). However, those correlations did not retain their significance in the adjusted analysis. In the logistic regression model, smoking more than 20 cigarettes/day correlated significantly with the presence of metabolic diseases (OR = 0.31; 95% CI: 1.009-1.701; p = 0.043). Conclusions: In this sample of smokers, smoking history correlated positively with the triglyceride level, the monocyte count, and waist circumference. The prevalence of metabolic disease was highest in those who smoked more than 20 cigarettes/day.

Keywords: Tobacco; Smoking; Triglycerides; Monocytes; Waist circumference; Body composition.

Objective: To translate the Understanding COPD (UCOPD) questionnaire into Portuguese, adapt it for use in Brazil, and assess its reliability. Methods: The UCOPD questionnaire consists of two sections, designated section A and section B. Section A comprises 18 items divided into three domains: "About COPD", "Managing Symptoms of COPD", and "Accessing Help and Support". Section B includes five questions regarding patient satisfaction with the educational component of pulmonary rehabilitation programs. The UCOPD questionnaire was applied twice on the same day by two different raters (with a 10-min interval between applications) and once again 15-20 days later. The Wilcoxon test was used in order to compare the scores among applications. Reliability was assessed by the intraclass correlation coefficient and Bland-Altman plots. Results: The study sample consisted of 50 COPD patients (35 men; mean age, 65.3 ± 7.91 years; mean FEV1, 36.4 ± 16.2% of the predicted value). Inter-rater intraclass correlation coefficients for section A total scores and domain scores ranged from moderate to high. Section A scores and domain scores had no significant differences regarding test-retest reliability (p < 0.05). The test-retest and inter-rater Cronbach's alpha coefficients for section A total scores were 0.93 and 0.86, respectively (p < 0.001). There were no floor or ceiling effects. Conclusions: The Brazilian Portuguese version of the UCOPD questionnaire is reliable.

Keywords: Pulmonary disease, chronic obstructive; reproducibility of results; Health knowledge, attitudes, practice.

Objective: To translate, cross-culturally adapt to Brazilian Portuguese, and evaluate the reliability of the Telemedicine Satisfaction Questionnaire (TSQ). Methods: This cross-sectional study involved patients from the Smoking Prevention and Cessation Center (PrevFumo) who participated in at least four of the eight scheduled remote meetings with the PrevFumo psychologist in 2020, 2021, or 2022. Participants were contacted by telephone and asked to answer the 14 questions of the TSQ three times at intervals of 7 or 10 days. Results: We assessed 53 patients (73.3% women). The mean age was 49.7 ± 10.2 years. The mean smoking history was 35.32 ± 24.8 pack-years. Of the 53 patients evaluated, 30.2% had completed high school or had some higher education, and 32.1% were classified as socioeconomic class B2 (A being the highest and E being the lowest). Forty-nine (92.5%) of the patients attended all eight meetings. The TSQ with only three answer options showed high reliability, with approximately 90% agreement after three applications. Patients were satisfied with telemedicine. Conclusions: The TSQ is rapidly applied, is easy to complete, and showed high reliability in our patient sample. Patients declared that they were satisfied with their telemedicine experience.

Keywords: Telemedicine; Patient satisfaction; Surveys and questionnaires; Cross-cultural comparison; Smoking cessation.

Objective: To translate The Manchester Respiratory Activities of Daily Living (MRADL) questionnaire into Portuguese and to create a version of the MRADL that is cross-culturally adapted for use in Brazil. Methods: The English-language version of the MRADL was translated into Portuguese by two health care researchers who were fluent in English. A consensus version was obtained by other two researchers and a pulmonologist. That version was back-translated into English by another translator who was a native speaker of English and fluent in Portuguese. The cognitive debriefing process consisted in having 10 COPD patients complete the translated questionnaire in order to test its understandability, clarity, and acceptability in the target population. On the basis of the results, the final Portuguese-language version of the MRADL was produced and approved by the committee and one of the authors of the original questionnaire. Results: The author of the MRADL questioned only a few items in the translated version, and some changes were made to the mobility and personal hygiene domains. Cultural differences regarding the domestic activities domain were found, in particular regarding the item "Do you have the ability to do a full clothes wash and hang them out to dry?", due to socioeconomic and climatic issues. The item "Do you take care of your garden?" was questioned by the participants who lived in apartments, being modified to "Do you take care of your garden or plants in your apartment?" Conclusions: The final Portuguese-language version of the MRADL adapted for use in Brazil was found to be easy to understand and easily applied.

Keywords: Activities of daily living; Questionnaires; Translations; Pulmonary disease, chronic obstructive.

To describe the intra-rater and inter-rater reliability of the Brazilian Portuguese version of the fatigue severity scale (FSS) in patients with COPD and to identify the presence of its association with parameters of pulmonary function, dyspnea, and functional capacity. Methods: This was an observational cross-sectional study involving 50 patients with COPD, who completed the FSS in interviews with two researchers in two visits. The FSS scores were correlated with those of the Medical Research Council (MRC) scale, as well as with FEV1, FVC, and six-minute walk distance (6MWD). Results: The mean age of the patients was 69.4 ± 8.23 years, whereas the mean FEV1 was 46.5 ± 20.4% of the predicted value. The scale was reliable, with an intraclass correlation coefficient of 0.90 (95% CI, 0.81-0.94; p < 0.01). The FSS scores showed significant correlations with those of MRC scale (r = 0.70; p < 0.01), as well as with 6MWD (r = −0.77; p < 0.01), FEV1 (r = −0.38; p < 0.01), FVC (r = −0.35; p < 0.01), and stage of the disease in accordance with the Global Initiative for Chronic Obstructive Lung Disease criteria (r = 0.37; p < 0.01). Conclusions: The Brazilian Portuguese version of the FSS proved reliable for use in COPD patients in Brazil and showed significant correlations with sensation of dyspnea, functional capacity, pulmonary function, and stage of the disease.

Keywords: Fatigue; Pulmonary disease, chronic obstructive; Reproducibility of results; Validation studies.

Objective: To estimate the prevalence of smoking, as well as to determine the association between smoking and the use of other drugs, among middle and high school students in the Federal District of Brasília, Brazil. Methods: Epidemiological study involving a reference population of students in the District. Our sample comprised 2,661 students from 9 to 19 years of age, in all middle and high school grades. All participating students completed a standard questionnaire. Results were analyzed by gender and type of school (public or private). Results: The prevalence of smoking among students in the District was 10.5%. Smoking was found to be associated with the use of alcohol and other drugs. Conclusions: Smoking is a gateway to the use of other drugs.

Keywords: Smoking; Tobacco; Adolescent; Students; Alcohol drinking; Dependency (Psychology).