Abstract Introduction Primary ciliary dyskinesia is a rare inherited disease that results in a malfunction of mucociliary clearance and sinonasal complaints. Aplasia/hypoplasia of the frontal and sphenoid sinuses has been described as more frequent in this population. However, to date, no studies have provided a detailed description of computed tomography findings in adult patients with a diagnosis of this condition. Objective To describe the computed tomography (CT) findings of adult patients with primary ciliary dyskinesia. Methods Retrospective observational study of adult patients with primary ciliary dyskinesia who underwent CT. Results Twenty-one adults were included in the study. Aplasia occurred in 38.1% of frontal sinuses and in 14.3% of sphenoid sinuses. Likewise, hypoplasia occurred in 47.6% of the frontal sinuses, in 54.8% of the sphenoid sinuses and in 40.5% of the maxillary sinuses. Furthermore, trabecular loss was identified in 61.9% ethmoidal sinuses. The mean Lund-Mackay score was 13.5. In addition, 9.5% of the patients had concha bullosa, 47.6% had marked bilateral inferior turbinate hypertrophy, 38.1% had marked middle turbinate hypertrophy, and 47.6% had marked septal deviation. Finally, we identified images suggestive of fungus ball, mucocele, osteoma, a possible antrochoanal polyp, and frontal bone erosions. Conclusion The present study provides a detailed description of CT findings in patients with primary ciliary dyskinesia. We also describe abnormalities that must be identified for safer surgical planning and that suggest a diagnosis of primary ciliary dyskinesia if found in patients with a consistent clinical picture.

ABSTRACT Cystic fibrosis (CF) is a genetic disease that results in dysfunction of the CF transmembrane conductance regulator (CFTR) protein, which is a chloride and bicarbonate channel expressed in the apical portion of epithelial cells of various organs. Dysfunction of that protein results in diverse clinical manifestations, primarily involving the respiratory and gastrointestinal systems, impairing quality of life and reducing life expectancy. Although CF is still an incurable pathology, the therapeutic and prognostic perspectives are now totally different and much more favorable. The purpose of these guidelines is to define evidence-based recommendations regarding the use of pharmacological agents in the treatment of the pulmonary symptoms of CF in Brazil. Questions in the Patients of interest, Intervention to be studied, Comparison of interventions, and Outcome of interest (PICO) format were employed to address aspects related to the use of modulators of this protein (ivacaftor, lumacaftor+ivacaftor, and tezacaftor+ivacaftor), use of dornase alfa, eradication therapy and chronic suppression of Pseudomonas aeruginosa, and eradication of methicillin-resistant Staphylococcus aureus and Burkholderia cepacia complex. To formulate the PICO questions, a group of Brazilian specialists was assembled and a systematic review was carried out on the themes, with meta-analysis when applicable. The results obtained were analyzed in terms of the strength of the evidence compiled, the recommendations being devised by employing the GRADE approach. We believe that these guidelines represent a major advance to be incorporated into the approach to patients with CF, mainly aiming to favor the management of the disease, and could become an auxiliary tool in the definition of public policies related to CF.

RESUMO A fibrose cística (FC) é uma doença genética que resulta em disfunção da proteína reguladora de condutância transmembrana da FC (CFTR), que é um canal de cloro e bicarbonato expresso na porção apical de células epiteliais de diversos órgãos. A disfunção dessa proteína resulta em manifestações clínicas diversas, envolvendo primariamente os sistemas respiratório e gastrointestinal com redução da qualidade e expectativa de vida. A FC ainda é uma patologia incurável, porém o horizonte terapêutico e prognóstico é hoje totalmente distinto e muito mais favorável. O objetivo destas diretrizes foi definir recomendações brasileiras baseadas em evidências em relação ao emprego de agentes farmacológicos no tratamento pulmonar da FC. As perguntas PICO (acrônimo baseado em perguntas referentes aos Pacientes de interesse, Intervenção a ser estudada, Comparação da intervenção e Outcome [desfecho] de interesse) abordaram aspectos relativos ao uso de moduladores de CFTR (ivacaftor, lumacaftor + ivacaftor e tezacaftor + ivacaftor), uso de dornase alfa, terapia de erradicação e supressão crônica de Pseudomonas aeruginosa, e erradicação de Staphylococcus aureus resistente a meticilina e do complexo Burkholderia cepacia. Para a formulação das perguntas, um grupo de especialistas brasileiros foi reunido e realizou-se uma revisão sistemática sobre os temas, com meta-análise quando aplicável. Os resultados encontrados foram analisados quanto à força das evidências compiladas, sendo concebidas recomendações seguindo a metodologia GRADE. Os autores acreditam que o presente documento represente um importante avanço a ser incorporado na abordagem de pacientes com FC, objetivando principalmente favorecer seu manejo, podendo se tornar uma ferramenta auxiliar na definição de políticas públicas relacionadas à FC.

ABSTRACT Objective: To evaluate the effect of treatment with the combination of three cystic fibrosis transmembrane conductance regulator (CFTR) modulators-elexacaftor+tezacaftor+ivacaftor (ETI)-on important clinical endpoints in individuals with cystic fibrosis. Methods: This was a systematic review and meta-analysis of randomized clinical trials that compared the use of ETI in individuals with CF and at least one F508del allele with that of placebo or with an active comparator such as other combinations of CFTR modulators, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) recommendations and the Patients of interest, Intervention to be studied, Comparison of interventions, and Outcome of interest (PICO) methodology. We searched the following databases: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials, and ClinicalTrials.gov from their inception to December 26th, 2022. The risk of bias was assessed using the Cochrane risk-of-bias tool, and the quality of evidence was based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE). Results: We retrieved 54 studies in the primary search. Of these, 6 met the inclusion criteria and were analyzed (1,127 patients; 577 and 550 in the intervention and control groups, respectively). The meta-analysis revealed that the use of ETI increased FEV1% [risk difference (RD), +10.47%; 95% CI, 6.88-14.06], reduced the number of acute pulmonary exacerbations (RD, −0.16; 95% CI, −0.28 to −0.04), and improved quality of life (RD, +14.93; 95% CI, 9.98-19.89) and BMI (RD, +1.07 kg/m2; 95% CI, 0.90-1.25). Adverse events did not differ between groups (RD, −0.03; 95% CI, −0.08 to 0.01), and none of the studies reported deaths. Conclusions: Our findings demonstrate that ETI treatment substantially improves clinically significant, patient-centered outcomes.

RESUMO Objetivo: Avaliar o efeito do tratamento com a combinação de três moduladores da proteína cystic fibrosis transmembrane conductance regulator (CFTR, reguladora de condutância transmembrana em fibrose cística) - elexacaftor + tezacaftor + ivacaftor (ETI) - sobre desfechos clínicos importantes em indivíduos com fibrose cística. Métodos: Revisão sistemática e meta-análise de ensaios clínicos randomizados que compararam o uso de ETI em indivíduos com fibrose cística com pelo menos um alelo F508del com o uso de placebo ou de um comparador ativo como outras combinações de moduladores da CFTR. O estudo foi realizado seguindo as recomendações Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) e a metodologia Patients of interest, Intervention to be studied, Comparison of interventions, and Outcome of interest (PICO). Foram realizadas buscas nos seguintes bancos de dados: MEDLINE, EMBASE, Cochrane Central Register of Controlled Trials e ClinicalTrials.gov, desde a sua criação até 26 de dezembro de 2022. O risco de viés foi avaliado por meio da ferramenta de risco de viés da Cochrane, e a qualidade das evidências foi determinada com base no sistema Grading of Recommendations Assessment, Development and Evaluation (GRADE). Resultados: Foram identificados 54 estudos na busca primária. Destes, 6 preencheram os critérios de inclusão e foram analisados (1.127 pacientes: 577 pacientes intervenção e 550 pacientes controle). A meta-análise revelou que o uso de ETI aumentou o VEF1 em porcentagem do previsto [diferença de risco (DR): +10,47%; IC95%: 6,88-14,06], reduziu o número de exacerbações pulmonares agudas (DR: −0,16; IC95%: −0,28 a −0,04) e melhorou a qualidade de vida (DR: +14,93; IC95%: 9,98-19,89) e o IMC (DR: +1,07 kg/m2; IC95%: 0,90-1,25). Os eventos adversos não diferiram entre os grupos (DR: −0,03; IC95%: −0,08 a 0,01), e nenhum dos estudos relatou óbitos. Conclusões: Nossos achados demonstram que o tratamento com ETI melhora substancialmente os desfechos clinicamente significativos centrados no paciente.

ABSTRACT Objective To develop a scientific consensus on nutrition in cystic fibrosis. Methods Sixteen coordinators elaborated relevant questions on nutritional therapy in cystic fibrosis, which were divided into six sections: nutritional assessment, nutritional recommendations, nutritional intervention, dietary counseling, special situations and enzyme replacement, and gastrointestinal manifestations. Two to three specialists in the field were responsible for each section and obtaining answers formulated based on standardized bibliographic searches. The available literature was searched in the PubMed®/MEDLINE database, after training and standardization of search strategies, to write the best level of evidence for the questions elaborated. Issues related to disagreement were discussed until a consensus was reached among specialists, based on the current scientific literature. Results Forty-two questions were prepared and objectively answered, resulting in a consensus of nutritional therapy in cystic fibrosis. Conclusion This work enabled establishing a scientific consensus for nutritional treatment of cystic fibrosis patients.

RESUMO Objetivo: Avaliar a prevalência dos fenótipos eosinofílico e alérgico da asma grave no Brasil e investigar as características clínicas dos pacientes com asma grave no país. Métodos: Estudo transversal com pacientes adultos com diagnóstico de asma grave atendidos em centros especializados no Brasil. O estudo foi realizado em 2019. Resultados: Foram incluídos no estudo 385 pacientes. Destes, 154 apresentavam contagem de eosinófilos no sangue > 300 células/mm3 e 231 apresentavam contagem de eosinófilos no sangue ≤ 300 células/mm3. A mediana da idade foi de 54,0 anos, e a maioria dos pacientes era do sexo feminino, com IMC de 29,0 kg/m2 e história de alergia (81,6%). A prevalência de pacientes com contagem de eosinófilos no sangue > 300 células/mm3 foi de 40,0% (IC95%: 35,1-44,9), e a daqueles com contagem de eosinófilos no sangue > 300 células/mm3 e história de alergia foi de 31,9% (IC95%: 27,3-36,6). A idade e o IMC apresentaram associações positivas com contagem de eosinófilos no sangue > 300 células/mm3 (OR = 0,97, p < 0,0001 e OR = 0,96, p = 0,0233, respectivamente), ao passo que o tempo decorrido desde o início dos sintomas de asma apresentou associação aumentada com contagem de eosinófilos no sangue > 300 células/mm3 (OR = 1,02, p = 0,0011). Conclusões: Este estudo possibilitou a caracterização da população de pacientes com asma grave no Brasil, mostrando a prevalência do fenótipo eosinofílico (em 40% da amostra). Nossos resultados revelam a relevância do fenótipo eosinofílico da asma grave em nível nacional, contribuindo para aumentar a eficácia no manejo da doença e na implantação de estratégias de saúde pública.

ABSTRACT Objective: To assess the prevalence of the eosinophilic and allergic phenotypes of severe asthma in Brazil, as well as to investigate the clinical characteristics of severe asthma patients in the country. Methods: This was a cross-sectional study of adult patients diagnosed with severe asthma and managed at specialized centers in Brazil. The study was conducted in 2019. Results: A total of 385 patients were included in the study. Of those, 154 had a blood eosinophil count > 300 cells/mm3 and 231 had a blood eosinophil count of ≤ 300 cells/mm3. The median age was 54.0 years, and most of the patients were female, with a BMI of 29.0 kg/m2 and a history of allergy (81.6%). The prevalence of patients with a blood eosinophil count > 300 cells/mm3 was 40.0% (95% CI: 35.1-44.9), and that of those with a blood eosinophil count > 300 cells/mm3 and a history of allergy was 31.9% (95% CI: 27.3-36.6). Age and BMI showed positive associations with a blood eosinophil count > 300 cells/mm3 (OR = 0.97, p < 0.0001; and OR = 0.96, p = 0.0233, respectively), whereas the time elapsed since the onset of asthma symptoms showed an increased association with a blood eosinophil count > 300 cells/mm3 (OR = 1.02, p = 0.0011). Conclusions: This study allowed us to characterize the population of severe asthma patients in Brazil, showing the prevalence of the eosinophilic phenotype (in 40% of the sample). Our results reveal the relevance of the eosinophilic phenotype of severe asthma at a national level, contributing to increased effectiveness in managing the disease and implementing public health strategies.

RESUMO Objetivo: Investigar a validade dos testes de caminhada de campo para identificar dessaturação durante o exercício, comparando os testes de exercício laboratoriais e clínicos de campo quanto às respostas cardiorrespiratórias e percepção de esforço em indivíduos com bronquiectasia não fibrocística. Métodos: Estudo transversal com 72 participantes não dependentes de oxigênio (28 homens; média de idade: 48,3 ± 14,5 anos; média do VEF1: 54,1 ± 23,4% do previsto). Os participantes foram submetidos ao teste de exercício cardiopulmonar (TECP) incremental em esteira e ao constant work-rate exercise testing (CWRET, teste de exercício com carga constante) em esteira, com intervalo de 1 h. Em outra visita, foram submetidos ao incremental shuttle walk test (ISWT, teste de caminhada incremental) e ao endurance shuttle walk test (ESWT, teste de caminhada de resistência), com intervalo de 1 h. A definição de dessaturação foi uma redução da SpO2 ≥ 4% do repouso ao pico do exercício. Resultados: O TECP e o ISWT resultaram em dessaturação de magnitude comparável (−7,7 ± 6,3% vs. −6,6 ± 5,6%; p = 0,10), assim como o fizeram o CWRET e o ESWT (−6,8 ± 5,8% vs. −7,2 ± 6,3%; p = 0,50). Houve concordância entre o TECP e o ISWT quanto ao número de participantes que apresentaram e não apresentaram dessaturação, respectivamente (42 e 14; p < 0,01), bem como entre o CWRET e o ESWT (39 e 16; p < 0,01). A magnitude da dessaturação foi semelhante nos participantes que atingiram ≥ 85% da FC máxima prevista ou não. Conclusões: Os testes de exercício de campo apresentaram boa precisão para detectar dessaturação. Os testes de campo podem ser uma alternativa aos testes de laboratório quando o objetivo é investigar a dessaturação durante o exercício em indivíduos com bronquiectasia.

ABSTRACT Objective: To investigate the validity of field walking tests to identify exercise-induced hypoxemia and to compare cardiorespiratory responses and perceived effort between laboratory-based and field-based exercise tests in subjects with bronchiectasis. Methods: This was a cross-sectional study involving 72 non-oxygen-dependent participants (28 men; mean age = 48.3 ± 14.5 years; and mean FEV1 = 54.1 ± 23.4% of the predicted value). The participants underwent cardiopulmonary exercise testing (CPET) on a treadmill and constant work-rate exercise testing (CWRET) on the same day (1 h apart). In another visit, they underwent incremental shuttle walk testing (ISWT) and endurance shuttle walk testing (ESWT; 1 h apart). Desaturation was defined as a reduction in SpO2 ≥ 4% from rest to peak exercise. Results: CPET results were compared with ISWT results, as were CWRET results with ESWT results. There was no difference in the magnitude of desaturation between CPET and ISWT (−7.7 ± 6.3% vs. −6.6 ± 5.6%; p = 0.10) and between CWRET and ESWT (−6.8 ± 5.8% vs. −7.2 ± 6.3%; p = 0.50). The incremental tests showed an agreement in the magnitude of desaturation in the desaturation and no desaturation groups (42 and 14 participants, respectively; p < 0.01), as did the endurance tests (39 and 16 participants; p < 0.01). The magnitude of desaturation was similar among the participants who did or did not reach at least 85% of the maximum predicted HR. Conclusions: Field exercise tests showed good precision to detect desaturation. Field tests might be an alternative to laboratory tests when the clinical question is to investigate exercise-induced desaturation in subjects with bronchiectasis.

OBJECTIVES: To compare the inflammatory and oxidative stress (OS) states of adults with bronchiectasis with those of healthy controls and correlate inflammatory and OS levels with lung function and physical capacity. METHODS: This study used a cross-sectional design. Seventy-four adults with bronchiectasis (age: 49±15 years, forced expiratory volume in 1 second [FEV1]: 52.5±25.6%) and 42 healthy controls (age: 44±17 years, FEV1: 95.9±14.0%) performed cardiopulmonary exercise tests and incremental shuttle walking tests. Their physical activity in daily life, inflammatory cytokine, and antioxidant levels in plasma were measured. RESULTS: Compared to that of the controls, the levels of interleukin (IL)-6 (p<0.001), IL-10 (p<0.001), carbonylated proteins (p=0.001), and superoxide anions (p=0.046) were significantly increased in adults with bronchiectasis. Catalase activity was also reduced in this group (p<0.001). The inflammatory markers IL-1β, IL-6, and tumor necrosis factor-α correlated negatively with aerobic capacity (r=-0.408, r=-0.308, and r=-0.207, respectively). We observed similar correlations with OS markers (thiobarbituric acid and carbonyls; r=-0.290 and r=0.379, respectively), and these markers also significantly correlated with the aerobic capacity. CONCLUSIONS: Adults with bronchiectasis presented an increased systemic inflammatory response that correlated negatively with physical capacity.

RESUMO Objetivo: Caracterizar uma população de portadores de bronquiectasias e correlacionar aspectos clínicos, radiológicos e funcionais com a gravidade da dispneia. Métodos: Estudo transversal realizado em adultos, portadores de bronquiectasias confirmadas por TCAR, categorizados de acordo com a gravidade da dispneia (pacientes pouco e muito sintomáticos), correlacionando-os com seus parâmetros clínicos, funcionais (espirometria, volumes pulmonares e DLCO) e tomográficos. Resultados: Foram avaliados 114 pacientes (47 homens, 41%). A mediana (intervalo interquartil) de idade foi de 42 (30-55) anos. A etiologia mais frequente foi idiopática. Em relação à colonização, 20 pacientes (17,5%) eram colonizados por Pseudomonas aeruginosa e grande parte fazia uso de macrolídeo continuamente (51,8%). Quanto à gravidade da dispneia, ela foi considerada moderada em 54 pacientes (47,4%) pelo escore Exacerbation in previous year, FEV1, Age, Colonization, Extension, and Dyspnea e leve em 50 (43,9%) pelo Bronchiectasis Severity Index. O padrão funcional mais encontrado foi distúrbio ventilatório obstrutivo (em 83%), e 68% apresentavam aprisionamento aéreo. Pacientes com maior grau de dispneia apresentaram maior prevalência de distúrbio obstrutivo na espirometria, e a maioria dos parâmetros funcionais apresentaram acurácia razoável em discriminar a gravidade da dispneia. Conclusões: Pacientes com bronquiectasias e maior gravidade da dispneia apresentaram um comprometimento funcional mais expressivo. A medida de volumes pulmonares complementou os dados da espirometria. Por se tratar de uma condição complexa e heterogênea, uma única variável parece não ser suficiente para caracterizar a condição clínica de forma global.

ABSTRACT Objective: To characterize a population of patients with bronchiectasis, correlating clinical, radiological, and functional aspects with the severity of dyspnea. Methods: This was a cross-sectional study involving adult patients with HRCT-confirmed bronchiectasis, categorized according to the severity of dyspnea (as being mildly or severely symptomatic, on the basis of the modified Medical Research Council scale). We correlated the severity of dyspnea with clinical parameters, functional parameters (spirometry values, lung volumes, and DLCO), and CT parameters. Results: We evaluated 114 patients, 47 (41%) of whom were men. The median age (interquartile range) was 42 years (30-55 years). The most common form was idiopathic bronchiectasis. Of the 114 patients, 20 (17.5%) were colonized with Pseudomonas aeruginosa and 59 (51.8%) were under continuous treatment with macrolides. When we applied the Exacerbation in the previous year, FEV1, Age, Colonization, Extension, and Dyspnea score, the severity of dyspnea was categorized as moderate in 54 patients (47.4%), whereas it was categorized as mild in 50 (43.9%) when we applied the Bronchiectasis Severity Index. The most common lung function pattern was one of obstruction, seen in 95 patients (83.3%), and air trapping was seen in 77 patients (68.7%). The prevalence of an obstructive pattern on spirometry was higher among the patients with dyspnea that was more severe, and most functional parameters showed reasonable accuracy in discriminating between levels of dyspnea severity. Conclusions: Patients with bronchiectasis and dyspnea that was more severe had greater functional impairment. The measurement of lung volumes complemented the spirometry data. Because bronchiectasis is a complex, heterogeneous condition, a single variable does not seem to be sufficient to provide an overall characterization of the clinical condition.

RESUMO Objetivo: Analisar os sintomas em diferentes momentos do dia em pacientes com DPOC. Métodos: Estudo observacional multicêntrico de corte transversal em oito centros brasileiros. Foram avaliados os sintomas matinais, diurnos e noturnos em pacientes com DPOC estável. Resultados: Foram incluídos 593 pacientes em tratamento regular, sendo 309 (52,1%) do sexo masculino e 92 (15,5%) fumantes ativos. A média de idade foi de 67,7 anos, e a média de VEF1 foi de 49,4% do valor previsto. Os pacientes com sintomas mais graves (n = 183; 30,8%), em comparação com aqueles com sintomas leves e moderados, apresentaram pior nível de atividade física (p = 0,002), maior limitação ao fluxo aéreo (p < 0,001), exacerbações ambulatoriais (p = 0,002) e hospitalares (p = 0,043) mais frequentemente e piores resultados em instrumentos específicos. Os sintomas matinais e noturnos mais frequentes foram dispneia (em 45,2% e 33,1%, respectivamente), tosse (em 37,5% e 33,3%, respectivamente) e chiado (em 24,4% e 27,0%, respectivamente). Houve forte correlação da intensidade dos sintomas diurnos com sintomas matinais (r = 0,65, p < 0,001), sintomas noturnos (r = 0,60, p < 0,001), bem como com o escore do COPD Assessment Test (r = 0,62; p < 0,001); porém, houve uma correlação fraca com VEF1 (r = −0,205; p < 0,001). Conclusões: A dispneia foi mais frequente no período matinal do que no período noturno. Ter sintomas matinais e/ou noturnos foi associado à pior gravidade dos sintomas diurnos. A intensidade dos sintomas foi fortemente associada a pior qualidade de vida e frequência de exacerbações, mas fracamente associada à limitação ao fluxo aéreo.

ABSTRACT Objective: To analyze symptoms at different times of day in patients with COPD. Methods: This was a multicenter, cross-sectional observational study conducted at eight centers in Brazil. We evaluated morning, daytime, and nighttime symptoms in patients with stable COPD. Results: We included 593 patients under regular treatment, of whom 309 (52.1%) were male and 92 (15.5%) were active smokers. The mean age was 67.7 years, and the mean FEV1 was 49.4% of the predicted value. In comparison with the patients who had mild or moderate symptoms, the 183 (30.8%) with severe symptoms were less physically active (p = 0.002), had greater airflow limitation (p < 0.001), had more outpatient exacerbations (p = 0.002) and more inpatient exacerbations (p = 0.043), as well as scoring worse on specific instruments. The most common morning and nighttime symptoms were dyspnea (in 45.2% and 33.1%, respectively), cough (in 37.5% and 33.3%, respectively), and wheezing (in 24.4% and 27.0%, respectively). The intensity of daytime symptoms correlated strongly with that of morning symptoms (r = 0.65, p < 0.001) and that of nighttime symptoms (r = 0.60, p < 0.001), as well as with the COPD Assessment Test score (r = 0.62; p < 0.001), although it showed only a weak correlation with FEV1 (r = −0.205; p < 0.001). Conclusions: Dyspnea was more common in the morning than at night. Having morning or nighttime symptoms was associated with greater daytime symptom severity. Symptom intensity was strongly associated with poor quality of life and with the frequency of exacerbations, although it was weakly associated with airflow limitation.

Resumo Objetivo Avaliar os desfechos maternos e perinatais de gestações em mulheres portadoras de fibrose cística (FC) e disfunção pulmonar grave. Métodos Série de casos visando a avaliação dos desfechos maternos e perinatais em gestações únicas de mulheres com diagnóstico de FC. Foram incluídos todos os casos de gestações únicas de pacientes comFC que tiveramacompanhamento no departamento de obstetrícia da Faculdade de Medicina da Universidade de São Paulo, no período de 2003 a 2016. Os critérios de exclusão foramnão disponibilidade do prontuário da paciente e parto em outro serviço. Disfunção pulmonar grave foi definida como presença de volume expiratório forçado em1 segundo < 50%. Foramanalisados tambémos dados referentes a exacerbações respiratórias e internações maternas. Resultados Gestação em mulheres portadoras de FC com disfunção pulmonar grave não se associaramcomprematuridade espontânea, restrição de crescimento fetal ou óbito fetal. Todos os casos apresentarammúltiplos episódios de exacerbações respiratórias necessitando de antibioticoterapia. A mediana de eventos por pacientes (intervalo) foi de 4 (2-4) eventos. Conclusão Mulheres portadoras de FC com disfunção pulmonar grave podem evoluir com gestações de termo bem sucedidas. Entretanto, gestações nestas pacientes são frequentemente complicadas por exacerbações respiratórias, necessitando de internação. Gestantes portadoras de FC devem ser acompanhadas por uma equipe especializada com experiência no manejo de doenças respiratórias.

Abstract Objectives To assess the perinatal and maternal outcomes of pregnant women with cystic fibrosis (CF) and severe lung impairment. Methods This was a series of cases aiming to review the maternal and fetal outcomes in cases of singleton pregnant women with a diagnosis of CF. We have included all of the cases of singleton pregnancy in patients with CF who were followed-up at the obstetrics department of the Medical School of the Universidade de São Paulo, between 2003 and 2016. The exclusion criteria were the unattainability of the medical records of the patient, and delivery at other institutions. A forced expiratory volume in 1 second < 50% was considered as severe lung impairment. We have also analyzed data regarding maternal hospitalization and respiratory exacerbations (REs). Results Pregnant women with CF and severe lung impairment did not present an association with spontaneous prematurity, fetal growth restriction or fetal demise. All of the cases involved multiple RE episodes requiring antibiotic therapy. The median (range) of events per patient was of 4 (2-4) events. Conclusion Cystic fibrosis patients with severe lung impairment may achieve successful term pregnancies. However, pregnancies of women with CF are frequently complicated by REs, and this population may require hospital admission during the course of the pregnancy. Cystic fibrosis patients should be followed by a specialized team with experience in treating respiratory diseases.

RESUMO Bronquiectasias têm se mostrado uma condição cada vez mais diagnosticada com a utilização da TCAR de tórax. Na literatura, a terminologia utilizada separa as bronquiectasias entre secundárias à fibrose cística e aquelas não associadas à fibrose cística, denominadas bronquiectasias não fibrocísticas neste documento. Muitas causas podem levar ao desenvolvimento de bronquiectasias, e o paciente geralmente tem sintomas crônicos de vias aéreas, infecções recorrentes e alterações tomográficas compatíveis com a condição. Em 2010, foi publicada a primeira diretriz internacional sobre diagnóstico e tratamento das bronquiectasias não fibrocísticas. No Brasil, este é o primeiro documento de revisão com o objetivo de sistematizar o conhecimento acumulado sobre o assunto até o momento. Como para vários tópicos do tratamento não há evidências suficientes para recomendações, optou-se aqui pela construção de um documento de consenso entre especialistas. A Comissão de Infecções Respiratórias da Sociedade Brasileira de Pneumologia e Tisiologia reuniu 10 pneumologistas com expertise em bronquiectasias no Brasil para avaliar criticamente as evidências científicas e diretrizes internacionais, assim como identificar aspectos relevantes à compreensão da heterogeneidade da doença bronquiectásica e a seu manejo diagnóstico e terapêutico. Foram determinados cinco grandes tópicos (fisiopatologia; diagnóstico; monitorização do paciente estável; tratamento do paciente estável; e manejo das exacerbações). Após essa subdivisão, os tópicos foram distribuídos entre os autores, que realizaram uma revisão não sistemática da literatura, priorizando as principais publicações nas áreas específicas, incluindo artigos originais e de revisão, assim como revisões sistemáticas. Os autores revisaram e opinaram sobre todos os tópicos, formando um documento único final que foi aprovado por todos.

ABSTRACT Bronchiectasis is a condition that has been increasingly diagnosed by chest HRCT. In the literature, bronchiectasis is divided into bronchiectasis secondary to cystic fibrosis and bronchiectasis not associated with cystic fibrosis, which is termed non-cystic fibrosis bronchiectasis. Many causes can lead to the development of bronchiectasis, and patients usually have chronic airway symptoms, recurrent infections, and CT abnormalities consistent with the condition. The first international guideline on the diagnosis and treatment of non-cystic fibrosis bronchiectasis was published in 2010. In Brazil, this is the first review document aimed at systematizing the knowledge that has been accumulated on the subject to date. Because there is insufficient evidence on which to base recommendations for various treatment topics, here the decision was made to prepare an expert consensus document. The Brazilian Thoracic Association Committee on Respiratory Infections summoned 10 pulmonologists with expertise in bronchiectasis in Brazil to conduct a critical assessment of the available scientific evidence and international guidelines, as well as to identify aspects that are relevant to the understanding of the heterogeneity of bronchiectasis and to its diagnostic and therapeutic management. Five broad topics were established (pathophysiology, diagnosis, monitoring of stable patients, treatment of stable patients, and management of exacerbations). After this subdivision, the topics were distributed among the authors, who conducted a nonsystematic review of the literature, giving priority to major publications in the specific areas, including original articles, review articles, and systematic reviews. The authors reviewed and commented on all topics, producing a single final document that was approved by consensus.

RESUMO A discinesia ciliar primária (DCP) é uma doença genética de origem comumente autossômica recessiva. Caracteriza-se clinicamente por infecções respiratórias de repetição; porém, a repercussão na qualidade de vida desses pacientes deve ser levada em consideração. Estudos têm demonstrado um importante impacto da doença nesse quesito, mas ainda faltam marcadores de qualidade de vida específicos para DCP. Nesse sentido, foi desenvolvido o questionário de qualidade de vida em pacientes com DCP. O presente comunicado versa sobre o processo de tradução do questionário desenvolvido no Reino Unido para o português falado no Brasil através de uma parceria entre pesquisadores do Brasil e Reino Unido e sua posterior aplicação a pacientes brasileiros.

ABSTRACT 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.