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Williams-Campbell syndrome (WCS), traditionally recognized in childhood, is a rare congenital disorder characterized by subsegmental bronchial cartilage deficiency, leading to bronchiectasis. However, its occurrence in adults presents unique diagnostic complexities. We present two cases: Case 1, a 53-year-old male with recurrent rhinosinusitis and COVID-19-associated lung cysts; Case 2, a 59-year-old cyclist with pulmonary bullae. Diagnostic evaluations included pulmonary function tests and imaging studies. Both cases underwent extensive diagnostic evaluations before WCS diagnosis. Management was focused on symptom alleviation and pneumococcal vaccination. Adult-onset WCS poses diagnostic challenges, often mimicking other respiratory conditions. Pathology confirmation is a gold standard for definitive diagnosis; however, in the case of WCS, the literature supports a diagnostic approach primarily based on clinical and radiological findings. Early recognition and tailored management strategies are essential to enhance patient outcomes.

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INTRODUCTION: High-frequency chest wall oscillation (HFCWO) devices are used to improve airway clearance in various respiratory conditions. This study comprehensively assesses the evidence on efficacy and safety and identifies trends in scientific publications and patents across geographic regions. METHODS: This study utilized an integrated approach, combining bibliographic and bibliometric research with artificial intelligence (AI) tools. Four databases - PubMed, Europe Pubmed Central, Cochrane Database of Systematic Reviews, and CINAHL - were searched for systematic reviews on the effectiveness of treatment options for HFCWO. The AMSTAR-2 tool was used to evaluate the risk of bias in systematic reviews. Bibliographic research synthesized the evidence following PRISMA and Cochrane guidelines. The Dimensions platform was used for bibliometric analysis to provide insights into the global landscape. AI tools with prompt engineering tools Chain-of-Thoughts (CoT) and Tree of Thoughts (ToT) were used to enhance data extraction capabilities. RESULTS: The umbrella review identified 12 systematic reviews supporting the effectiveness of HFCWO in improving pulmonary function parameters, sputum characteristics, dyspnea, health scores, and quality of life in conditions including cystic fibrosis, bronchiectasis, chronic obstructive pulmonary disease (COPD), or neuromuscular diseases, with varying evidence of certainty. Eight of the twelve reviews had a moderate to high AMSTAR-2 confidence level, while several studies lacked sufficient descriptions of methods, treatment regimens, outcome measures, and adverse effects. Despite the absence of adverse events, the overall evidence quality between studies is evaluated as low to very low. Bibliometric analysis found a significant increase in global interest over the past two decades, with 230 research publications, 137 patents, and 56 clinical trials. CONCLUSIONS: The study highlights the potential of HFCWO devices in respiratory care but demands more robust evidence. The increasing interest in airway clearance devices highlights the necessity for HFCWO mechanism and safety research, underlining its therapeutic relevance in respiratory medicine. The interdisciplinary integration of AI tools and prompt engineering contributes to a nuanced understanding of the available evidence.

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The lungs are integral to immune defense, and inborn errors of immunity (IEI) often manifest as lung disease. Lung complications of IEI can involve the airways, alveolar spaces, interstitium, vasculature, and pleura. Accurate identification of these lung disease patterns requires a thorough clinical history, physical examination, and high-resolution computed tomography (HRCT), as lung imaging patterns guide further respiratory and immunological evaluations. Respiratory assessment may also include pulmonary function tests, bronchoscopy with bronchoalveolar lavage, and, in some cases, lung biopsy. Additionally, molecular diagnosis of underlying immune defects, typically through comprehensive clinical phenotyping, functional immune studies, and genetic testing, is crucial for informing patient management and guiding targeted therapies. Importantly, given the complexity of IEI, a multidisciplinary approach is necessary. Furthermore, ongoing research is required to refine therapies and improve outcomes for lung complications.

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BACKGROUND: Bronchiectasis is a condition characterized by abnormal and irreversible bronchial dilation resulting from lung tissue damage and can be categorized into two main groups: cystic fibrosis (CF) and non-CF bronchiectasis (NCFB). Both diseases are marked by recurrent infections, inflammatory exacerbations, and lung damage. Given that infections are the primary drivers of disease progression, characterization of the respiratory microbiome can shed light on compositional alterations and susceptibility to antimicrobial drugs in these cases compared to healthy individuals. METHODS: To assess the microbiota in the two studied diseases, 35 subjects were recruited, comprising 10 NCFB and 13 CF patients and 12 healthy individuals. Nasopharyngeal swabs and induced sputum were collected, and total DNA was extracted. The DNA was then sequenced by the shotgun method and evaluated using the SqueezeMeta pipeline and R. RESULTS: We observed reduced species diversity in both disease cohorts, along with distinct microbial compositions and profiles of antimicrobial resistance genes, compared to healthy individuals. The nasopharynx exhibited a consistent microbiota composition across all cohorts. Enrichment of members of the Burkholderiaceae family and an increased Firmicutes/Bacteroidetes ratio in the CF cohort emerged as key distinguishing factors compared to NCFB group. Staphylococcus aureus and Prevotella shahii also presented differential abundance in the CF and NCFB cohorts, respectively, in the lower respiratory tract. Considering antimicrobial resistance, a high number of genes related to antibiotic efflux were detected in both disease groups, which correlated with the patient's clinical data. CONCLUSIONS: Bronchiectasis is associated with reduced microbial diversity and a shift in microbial and resistome composition compared to healthy subjects. Despite some similarities, CF and NCFB present significant differences in microbiome composition and antimicrobial resistance profiles, suggesting the need for customized management strategies for each disease.

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ABSTRACT Objectives: This study primarily aimed to investigate the clinical determinants of the Modified Incremental Step Test (MIST) in adults with non-cystic fibrosis bronchiectasis (NCFB). A secondary objective was to compare the cardiopulmonary responses after the MIST and Incremental Shuttle Walk Test (ISWT), two commonly adopted symptom-limited maximum field tests in chronic respiratory diseases. Methods: Forty-six patients with clinically stable bronchiectasis participated in this cross-sectional study. MIST and ISWT were performed to determine exercise capacity, while disease severity, fatigue, and quality of life were assessed using the Bronchiectasis Severity Index (BSI), the Fatigue Severity Scale (FSS), and St. George's Respiratory Questionnaire (SGRQ), respectively. Quadriceps muscle strength was evaluated using a hand-held dynamometer, walking speed with a wireless inertial sensing device, and the level of physical activity (steps/day) with a pedometer. Results: The BSI score, quadriceps muscle strength, daily step count, and the SGRQ total score explained 61.9% of the variance in the MIST (p < 0.001, R2 = 0.67, AR2 = 0.619). The BSI score (r = -0.412, p = 0.004), quadriceps muscle strength (r = 0.574, p = 0.001), daily step count (r = 0.523, p < 0.001), walking speed (r = 0.402, p = 0.006), FSS score (r = -0.551, p < 0.001), and SGRQ total score (r = -0.570, p < 0.001) correlated with the MIST. The patients achieved higher heart rates (HR), HR%, desaturation, dyspnea, and leg fatigue in the MIST compared to the ISWT (p < 0.05). Conclusions: Disease severity, quadriceps muscle strength, physical activity level, and quality of life were determinants of MIST. The advantages of the MIST, including higher cardiopulmonary response than ISWT and greater portability, which facilitates its use in various settings, make MIST the preferred choice for investigating symptom-limited exercise capacity in patients with NCFB.

RESUMO Objetivos: Este estudo teve como objetivo principal investigar os determinantes clínicos do Teste do Degrau Incremental Modificado (TDIM) em adultos com bronquiectasia não fibrocística (BNFC). Um objetivo secundário foi comparar as respostas cardiopulmonares após o TDIM e o Teste Graduado de Caminhada (TGC), dois testes de campo máximos amplamente adotados e limitados por sintomas em doenças respiratórias crônicas. Métodos: Quarenta e seis pacientes com bronquiectasia clinicamente estável participaram deste estudo transversal. O TDIM e TGC foram realizados para determinar a capacidade de exercício, enquanto a gravidade da doença, fadiga e qualidade de vida foram avaliadas usando o Índice de Gravidade da Bronquiectasia (BSI), a Escala de Gravidade da Fadiga (FSS) e o Questionário Respiratório de Saint George (SGRQ), respectivamente. A força muscular do quadríceps foi avaliada usando um dinamômetro manual, a velocidade de caminhada com um dispositivo de sensor inercial sem fio e o nível de atividade física (passos/dia) com um pedômetro. Resultados: O escore BSI, a força muscular do quadríceps, a contagem diária de passos e o escore total do SGRQ explicaram 61,9% da variação no TDIM (p < 0,001, R2 = 0,67, AR2 = 0,619). O escore BSI (r = -0,412, p = 0,004), a força muscular do quadríceps (r = 0,574, p = 0,001), a contagem diária de passos (r = 0,523, p < 0,001), a velocidade de caminhada (r = 0,402, p = 0,006), o escore FSS (r = -0,551, p < 0,001) e o escore total do SGRQ (r = -0,570, p < 0,001) correlacionaram-se com o TDIM. Os pacientes atingiram maiores frequências cardíacas (FC), FC%, dessaturação, dispneia e fadiga nas pernas no TDIM em comparação com o TGC (p < 0,05). Conclusões: A gravidade da doença, a força muscular do quadríceps, o nível de atividade física e a qualidade de vida foram determinantes do TDIM. As vantagens do TDIM, incluindo uma resposta cardiopulmonar mais elevada que no TGC e maior portabilidade, que facilita sua utilização em diversos ambientes, fazem do TDIM a escolha preferencial para investigar a capacidade de exercício limitada por sintomas em pacientes com BNFC.

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ABSTRACT Objectives: To evaluate the early and late results of surgical treatment of patients with bronchiectasis, comparing the Video-Assisted Thoracic Surgery (VATS) vs. the open thoracotomy (OT). Methods: Observational retrospective study of patients who underwent surgery for bronchiectasis. Patients were divided into two groups according to surgical access OT/VATS. Variables collected included gender, age, preoperative symptoms, etiology, segments involved, FVC and FEV1, type of surgical resection, complications, mortality, and length of hospital stay. Late surgical results were classified as excellent, complete remission of symptoms; good, significative improvement; and poor, little/no improvement. Results: 108 surgical resections (103 patients). OT group 54 patients (52.4%) vs. VATS 49 (47.6%). A high percentage of complications was observed, but no difference between the OT (29.6%) and VATS (24.5%) groups was found. Post-operative hospital stay was shorter in the VATS group (5.4 days) vs. the OT group (8.7 days (p=0.029). 75% of the patients had a late follow-up; the results were considered excellent in 71.4%, good in 26%, and poor in 2.6%. Regarding bronchiectasis distribution, an excellent percentage was obtained at 82.1% in patients with localized bronchiectasis and 47.5% with non-localized bronchiectasis, p=0.003. Conclusions: VATS leads to similar results regarding morbidity, compared to OT. However, VATS was related to shorter hospital stays, reflecting the early recovery. Late results were excellent in most patients, being better in patients with localized bronchiectasis. VATS should be considered a preferable approach for bronchiectasis lung resection whenever possible.

RESUMO Objetivos: Avaliar os resultados precoces e tardios do tratamento cirúrgico de pacientes com bronquiectasias, comparando a Cirurgia Torácica Videoassistida (VATS) versus a toracotomia (TO). Métodos: Estudo retrospectivo observacional de pacientes submetidos à cirurgia de bronquiectasias. Os pacientes foram divididos em dois grupos de acordo com o acesso cirúrgico TO/VATS. As variáveis coletadas incluíram sexo, idade, sintomas pré-operatórios, etiologia, segmentos envolvidos, CVF e VEF1, tipo de ressecção cirúrgica, complicações, mortalidade e tempo de internação. Os resultados cirúrgicos tardios foram classificados como excelentes, remissão completa dos sintomas; bom, melhora significativa; e pobre, pouca/nenhuma melhoria. Resultados: 108 ressecções cirúrgicas (103 pacientes). Grupo TO 54 pacientes (52,4%) vs. VATS 49 (47,6%). Observou-se alto percentual de complicações, mas não foi encontrada diferença entre os grupos TO (29,6%) e VATS (24,5%). O tempo de internação pós-operatório foi menor no grupo VATS (5,4 dias) versus o grupo TO (8,7 dias) (p=0,029). 75% dos pacientes tiveram seguimento tardio; os resultados foram considerados excelentes em 71,4%, bom em 26% e ruim em 2,6%. Quanto à distribuição das bronquiectasias, o percentual excelente foi de 82,1% em pacientes com bronquiectasias localizadas e 47,5% com bronquiectasias não localizadas, p=0,003. Conclusões: VATS mostrou resultados semelhantes em relação à morbidade, comparado ao TO. No entanto, a VATS foi relacionada a internações hospitalares mais curtas, refletindo a recuperação precoce. Os resultados tardios foram excelentes na maioria dos pacientes, sendo melhores em pacientes com bronquiectasias localizadas. A VATS deve ser considerada uma abordagem preferível para a ressecção pulmonar de bronquiectasias sempre que possível.

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BACKGROUND: Postinfectious bronchiolitis obliterans is a rare lung disease; there are limited reports in South America. CASE REPORT: We report 10 patients with this disease diagnosed at the Instituto Nacional de Salud del Niño-Breña (Lima-Peru). The median age at diagnosis was 19 months and all patients had a history of severe acute respiratory infection. The most frequent symptoms were cough, respiratory distress, wheezing, and hypoxemia. The mosaic attenuation pattern was the most frequent on the tomography. All the patients had positive serology for adenovirus. The treatment received was methylprednisolone pulses, azithromycin, hydroxychloroquine, and inhaled corticosteroids. No patient died during the follow-up. CONCLUSIONS: In previously healthy children with a history of severe acute respiratory infection and persistent bronchial obstructive symptoms, the diagnosis of postinfectious bronchiolitis obliterans should be considered. This is the first report in Peru with a therapeutic regimen adapted to our institution.

INTRODUCCIÓN: La bronquiolitis obliterante postinfecciosa es una enfermedad pulmonar poco frecuente; existen limitados reportes en Sudamérica. CASO CLÍNICO: En esta serie se reportan 10 pacientes con esta enfermedad diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú). La mediana de edad al diagnóstico fue de 19 meses. Todos los pacientes presentaron el antecedente de infección respiratoria aguda grave. Los síntomas más frecuentes fueron tos, dificultad respiratoria, sibilancias e hipoxemia; el patrón de atenuación en mosaico fue la característica más frecuente en la tomografía. Todos tenían serología positiva para adenovirus. Se administró tratamiento con pulsos de metilprednisolona, azitromicina, hidroxicloroquina y corticoides inhalados. Ningún paciente falleció durante el seguimiento. CONCLUSIONES: En los niños previamente sanos con antecedente de infección respiratoria aguda grave y sintomatología obstructivo bronquial persistente se debe considerar el diagnóstico de bronquiolitis obliterante postinfecciosa. Este es el primer reporte en Perú con un régimen terapéutico adaptado a nuestra institución.

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BACKGROUND: Bronchiectasis is a major respiratory complication in patients with common variable immunodeficiency (CVID) and is associated with recurrent pulmonary infections. However, it is unclear whether other infections or non-infectious respiratory conditions are related to its development. OBJECTIVE: To identify respiratory comorbidities associated with bronchiectasis in patients with CVID. METHODS: A total of 1470 CVID patients enrolled in the USIDNET registry were included in a cross-sectional analysis. The primary outcome of our study was to determine the clinical characteristics and other respiratory conditions associated with respiratory comorbidities and physician-reported bronchiectasis. RESULTS: One hundred ninety-seven CVID patients were noted to have bronchiectasis (13.4%). Affected patients were significantly older than patients without bronchiectasis (median age 54 years vs. 49 years, p = 0.0004). These patients also had lower serum IgA (13 mg/dL IQR 60 mg/dL vs. 28.4 mg/dL IQR 66 mg/dL, p = 0.000). Notably, chronic rhinosinusitis (OR = 1.69 95%CI 1.05-2.75), sinusitis (OR = 2.06 95%CI 1.38-3.09), pneumonia (OR = 2.70 95%CI 1.88-3.88), COPD (OR = 2.66 95%CI 1.51-4.67), and interstitial lung disease (OR = 2.34 95%CI 1.41-3.91) were independently associated with the development of bronchiectasis in this population. CONCLUSION: These data suggest that lower and upper respiratory infections, chronic lower airway disease, and interstitial lung diseases are independently associated with bronchiectasis in CVID patients. Further study into predisposing conditions related to the development of bronchiectasis in CVID patients may allow prediction and early intervention strategies to prevent the development of this complication.

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Resumen Introducción: La bronquiolitis obliterante postinfecciosa es una enfermedad pulmonar poco frecuente; existen limitados reportes en Sudamérica. Caso clínico: En esta serie se reportan 10 pacientes con esta enfermedad diagnosticados en el Instituto Nacional de Salud del Niño-Breña (Lima-Perú). La mediana de edad al diagnóstico fue de 19 meses. Todos los pacientes presentaron el antecedente de infección respiratoria aguda grave. Los síntomas más frecuentes fueron tos, dificultad respiratoria, sibilancias e hipoxemia; el patrón de atenuación en mosaico fue la característica más frecuente en la tomografía. Todos tenían serología positiva para adenovirus. Se administró tratamiento con pulsos de metilprednisolona, azitromicina, hidroxicloroquina y corticoides inhalados. Ningún paciente falleció durante el seguimiento. Conclusiones: En los niños previamente sanos con antecedente de infección respiratoria aguda grave y sintomatología obstructivo bronquial persistente se debe considerar el diagnóstico de bronquiolitis obliterante postinfecciosa. Este es el primer reporte en Perú con un régimen terapéutico adaptado a nuestra institución.

Abstract Background: Postinfectious bronchiolitis obliterans is a rare lung disease; there are limited reports in South America. Case report: We report 10 patients with this disease diagnosed at the Instituto Nacional de Salud del Niño-Breña (Lima-Peru). The median age at diagnosis was 19 months and all patients had a history of severe acute respiratory infection. The most frequent symptoms were cough, respiratory distress, wheezing, and hypoxemia. The mosaic attenuation pattern was the most frequent on the tomography. All the patients had positive serology for adenovirus. The treatment received was methylprednisolone pulses, azithromycin, hydroxychloroquine, and inhaled corticosteroids. No patient died during the follow-up. Conclusions: In previously healthy children with a history of severe acute respiratory infection and persistent bronchial obstructive symptoms, the diagnosis of postinfectious bronchiolitis obliterans should be considered. This is the first report in Peru with a therapeutic regimen adapted to our institution.

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The microbiota refers to all the microorganisms living in and on the human body; its fungal component is known as the mycobiota. The molecular component (mycobiome) has been linked to certain pulmonary diseases. Morphological fungal examination is still common practice and makes it possible to isolate fungi on direct examination or after sample culture. This study aimed to identify fungi via the genus colonising the respiratory tract in our environment and to evaluate the relationship between identified fungi and underlying diseases. We performed a retrospective study of patients who underwent bronchofiberoscopy and mycological analysis of fluid collected by broncho-alveolar lavage at our centre over a period of 5 years. During the study period, 1588 samples from 1547 patients were analysed (50.7% male, mean age 63.7 ± 14.8 years). Among the 1588 samples, 213 (13.4%) were positive on direct examination, and 1282 (80.8%) were positive after culture. The average number of species detected per sample was 1.4 ± 1.1. For patients with positive fungus, the median was two (ranging from one to seven). At least three fungal species were isolated in 14.4% of samples (17.9% of positive cultures), and at least two were isolated in 41.2% of samples (51.1% of positive cultures). Sterile mycelium was observed in 671 samples (42.28%), while Candida was identified in 607 samples (38.25%), and Geotrichum was identified in 271 samples (17.08%). Moulds were more frequently associated with bronchiectasis, while yeasts were associated with infectious pneumonia. Both moulds and yeasts were less frequent in diffuse interstitial lung disease, and yeast was less frequently present in chronic cough. Although overall, sterile mycelium and Candida were most frequently observed regardless of the underlying disease, there was nonetheless significant variability in the fungal genera between diseases. Fungal spores are highly prevalent in respiratory samples in Martinique. The species present in the samples varied according to the underlying respiratory disease.

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Background: Chronic lung infections represent a diversity of clinical entities that combined respond to significant public health, particularly in developing countries. However, there is no data regarding the practice patterns, surgeons' preferences, and technological usage, especially among Brazilian surgeons, in the setting of the surgical treatment of chronic lung infections. We, therefore, surveyed Brazilian thoracic surgeons from the Brazilian Society of Thoracic Surgery (SBCT) about practice patterns and trends in surgical treatment for chronic lung infections. Methods: A cross-sectional anonymous survey of all thoracic surgeons from the Brazilian Society was conducted in 2019. As the study was purely descriptive no further statistical evaluation was performed. Results: The responsive rate was 34% (259/766) from 23 of the 26 states in Brazil. A total of 141 (54.4%) participants reported their institution as a surgical reference for chronic infection lung disease, only 13.1% of surgeons have a high-volume service (more than 11 cases operated annually). The majority (76.2%) of respondents performed 1-5 surgical resection to treat tuberculosis (TB) sequelae, but only 62 (30.1%) had performed more than one resection to treat active TB. Chronic lung infection (76%) and hemoptysis (66%) were the most common symptoms as surgical indications. A proportion of 42.2% of the respondents do not have and/or perform routine drug sensitivity tests. In addition, 19.3% of respondents were not familiar with the recommendations of surgery in the treatment of pulmonary TB. Video-assisted thoracoscopic surgery (VATS) is available for 80% of respondents, while robotic surgery is for only 10%. Most (86%) surgeons have access to surgical staplers. Among the structural resources, respiratory isolation beds in the intensive care unit (ICU) (80%) and ward (79%) are frequently available resources. However, less than 12% of surgeons have in their institution a specific operating room for sputum-positive patients. Conclusions: Lung resection for chronic infectious disease is an essential area of activity for thoracic surgeons in Brazil, which occurs mainly in the public sphere, with no concentration of cases per surgeon or institution. The lack of adequate resources in many centers justifies the creation of reference centers for improving care for these patients.

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INTRODUCTION AND OBJECTIVE: The Bronchiectasis Health Questionnaire (BHQ) is a simple, repeatable, and self-reporting health status questionnaire for bronchiectasis. This study aims to cross-culturally adapt the BHQ into Brazilian Portuguese and evaluate its measurement properties. METHODS: The participants answered the Saint George...s Respiratory Questionnaire (SGRQ) and the modified Medical Research Council (mMRC) scale for dyspnea. The Brazilian-Portuguese version of the Bronchiectasis Health Questionnaire (BHQ-Brazil) was used at baseline (test) and after 14 days (retest). The psychometric analyses included internal consistency, test-retest reliability, and construct validity: factorial validity, convergent validity, and discriminative validity, agreement, and ceiling and floor effects. RESULTS: The BHQ-Brazil demonstrated adequate internal consistency (Cronbach...s alpha...=...0.92) and substantial reliability (intraclass correlation coefficient...=...0.86; 95%CI: 0.79...0.90). The exploratory factorial analysis was considered suitable. All items presented a factorial load >0.40. The convergent validity of the BHQ-Brazil with mMRC was moderate (r...=......0.53, p...<...0.001), while concurrent validity with the SGRQ was strong (symptoms: r...=......0.72, activities: r...=......0.60, impact: r...=......0.60, total score: r...=......0.75, all p...<...0.001). The standard error of measurement was 4.81 points. The discriminative validity demonstrated that individuals with more pulmonary exacerbations, colonization by Pseudomonas aeruginosa, worst dyspnea, and a higher number of affected lung lobes presented the lowest quality of life. No floor or ceiling effects were observed. CONCLUSION: The BHQ-Brazil presents adequate measurement properties to evaluate the impact of bronchiectasis on health-related quality of life, and can be used in clinical and research settings.

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ABSTRACT BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare and heterogeneous disease that is difficult to diagnose and requires complex and expensive diagnostic tools. The saccharin transit time test is a simple and inexpensive tool that may assist in screening patients with PCD. OBJECTIVES: This study aimed to compare changes in the electron microscopy findings with clinical variables and saccharin tests in individuals diagnosed with clinical PCD (cPCD) and a control group. DESIGN AND SETTING: An observational cross-sectional study was conducted in an otorhinolaryngology outpatient clinic from August 2012 to April 2021. METHOD: Patients with cPCD underwent clinical screening questionnaires, nasal endoscopy, the saccharin transit time test, and nasal biopsy for transmission electron microscopy. RESULTS: Thirty-four patients with cPCD were evaluated. The most prevalent clinical comorbidities in the cPCD group were recurrent pneumonia, bronchiectasis, and chronic rhinosinusitis. Electron microscopy confirmed the clinical diagnosis of PCD in 16 of the 34 (47.1%) patients. CONCLUSION: The saccharin test could assist in screening patients with PCD due to its association with clinical alterations related to PCD.

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Background: Exacerbations are pivotal events in the natural history of patients with non-cystic fibrosis bronchiectasis (NCFB), since they have a negative impact on the functional evolution of these individuals. The daily symptoms of patients with NCFB show great variability, which negatively affects their self-perception of symptoms and exacerbations. The aim of this study was to identify daily symptoms in patients with NCFB, and to investigate whether there is a correlation between the frequency of self-reported exacerbations and events defined according to the criteria established in the literature to define exacerbation in bronchiectasis. Methods: This observational and prospective study was carried out in outpatient clinics of a Brazilian public university hospital. Over 24 weeks, patients completed a diary in which daily symptoms, self-reported exacerbations, and demands for medical care for respiratory symptoms were recorded. The instrument used (diary and symptom scores ranging from 0 to 12) were developed by the researchers. The participants also answered questionnaires mMRC, Leicester's, and St. George's Respiratory (SGRQ). Results: Twenty-eight patients returned the diary, their mean age was 54 years, and 50% out of them were classified as mild by the FACED score. Cough (64%) and expectoration (62%) were the most frequent symptoms. Correlations were found between the stability score and the mMRC (r=0.4727, p=0.011) and SGRQ (r=0.6748, p<0.0001) questionnaires. The number of self-perceived exacerbations (24) was significantly lower than exacerbations using the exacerbation consensus (63) (p<0.01). Additionally, no correlation was found between these two criteria. Conclusions: There was great variability of symptoms among the individuals sampled, and even for the same individual, over time. Patients had low self-perception of exacerbations, which suggests that strategies aimed at improving this self-perception may contribute to the early detection of exacerbations.

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Background: Inborn errors of immunity, mainly Predominantly Antibody deficiencies with normal IgG levels are unrecognized in adults with lung diseases such as bronchiectasis or recurrent pneumonia. Objective: To determine IgM, IgA, IgG2 subclass deficiencies, and Specific antibody deficiency (anti-pneumococcal polysaccharide antibodies) in adults with non-cystic fibrosis bronchiectasis or recurrent pneumonia. Methods: Cross-sectional study. Consecutive patients with non-cystic fibrosis bronchiectasis or recurrent pneumonia were recruited in Cali, Colombia. IgG, IgA, IgM, and IgE, IgG2subclass and IgG anti-pneumococcal serum levels were measured. Results: Among the 110 participants enrolled, Antibody deficiencies with normal serum IgG levels were found in 11(10%) cases. IgA deficiency (3 cases), IgM deficiency (2 cases) and IgG2 deficiency (2 cases) were the most frequent primary immunodeficiencies. In addition, IgG2+IgA deficiency, Ataxia-telangiectasia, Hyper-IgE syndrome and Specific Antibody Deficiency(anti-polysaccharides) were found in one case each. Conclusions: Predominantly antibody deficiencies with normal IgG levels are an important etiology of non-cystic fibrosis bronchiectasis and recurrent pneumonia in adults.

Antecedentes: Los Errores Innatos de la Inmunidad principalmente las Deficiencias Predominantemente de anticuerpos con niveles normales de IgG no se conocen en adultos con enfermedades pulmonares como las bronquiectasias o la neumonía recurrente. Objetivo: Determinar las deficiencias de IgM, IgA y de subclase de IgG2 y la Deficiencia Específica de Anticuerpos (anticuerpos antineumocócicos de polisacáridos) en adultos con Bronquiectasias no Fibrosis Quística (BQnoFQ) o neumonía recurrente. Métodos: Estudio observacional prospectivo. Se reclutaron 110 pacientes consecutivos con BQnoFQ o neumonía recurrente en Cali, Colombia. Se midieron los niveles séricos de IgG, IgA, IgM e IgE, subclase IgG2 y anticuerpos anti-neumococo. Resultados: Se encontraron deficiencias de anticuerpos con niveles normales de IgG en el 10% de los sujetos; Cuatro casos con IgG2 baja, incluido 1 caso de deficiencia de IgG2 + IgA, 1 caso de ataxia-telangiectasia, 3 deficiencias de IgA (IgAD), 2 deficiencias selectiva de IgM (IgMD), 1 síndrome de Hiper-IgE (HIES-AR) y 1 deficiencia específica de anticuerpos. Ocho pacientes fueron diagnosticados con enfermedades relacionadas con la hipogammaglobulinemia IgG. Conclusiones: Las deficiencias predominantemente de anticuerpos con niveles normales de IgG son una etiología importante de BQnoFQ y neumonía recurrente en adultos. Los sujetos con bronquiectasias o neumonía recurrente requieren una evaluación exhaustiva de la respuesta inmune humoral y clínica.

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Bronchiectasis are abnormal permanently dilated bronchi which lead to chronic cough and other respiratory symptoms. Though tuberculosis (TB) is a common cause of bronchiectasis, data on this association are scarce. The objective of this study was to describe the profile of patients with post-TB bronchiectasis at a tertiary hospital in the southern region of Brazil. This was a retrospective study with data from patients in follow-up at our hospital from January 2005 to December 2020. We included patients 14 years of age or older who had bronchiectasis on chest computed tomography and a history of pulmonary TB. We excluded patients with bronchiectasis due to other causes or with confirmed non-tuberculous mycobacteria infection. We included 54 of the 204 non-cystic fibrosis bronchiectasis patients seen at our hospital during the study period. Most of the patients were female, older, and non-smokers. Less than a third had chronic bronchial infection by some agent. More than two thirds had some type of ventilatory defect, the most common being obstruction. More than half had upper-lobe impairment. Severity of the disease seemed to be equally distributed from mild to severe. Treatment was varied, including bronchodilators, inhaled corticosteroids, and azithromycin. We found that the profile of patients in our hospital is similar to that described in other studies, with slight differences in regard to microbiology and treatment.

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SUMMARY OBJECTIVE: Bronchiectasis is a chronic respiratory disease characterized by inflammation, irreversible dilation of the bronchi, and recurrent pulmonary infections, with a high morbidity and mortality rate, but is less studied from the point of view of its prevalence and associated factors not directly related to respiratory prognosis. As it is a disease related to the exacerbation of the inflammatory process and oxidative stress, this study searched to investigate the micronucleus frequency in patients with and without bronchiectasis treated at a specialized pulmonology service in a hospital in the extreme south of Brazil. METHODS: Patients with a confirmed tomographic diagnosis of bronchiectasis were defined as cases. Mutagenicity was evaluated by the micronucleus test in patients' oral mucosa cells. Data collection was performed through a questionnaire containing socioeconomic, demographic, lifestyle, and health condition information. RESULTS: Of the 95 patients involved in this study, 21 (22.1%) were diagnosed with bronchiectasis aged between 12 and 89 years. There was no significant difference in the frequency of micronucleus between patients with and without bronchiectasis. There was a significant positive association between age and frequency of micronucleus among patients with bronchiectasis, but this association does not occur among patients without the disease. CONCLUSION: This is the first study to investigate data on the prevalence and clinical and epidemiological aspects of this chronic disease in Brazil, especially those related to the genotoxicity outcome.

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AIM: To evaluate and describe lymphocyte populations' and B cell subsets' frequencies in patients presenting with Predominantly antibody deficiencies (PAD) and diagnosed with bronchiectasis or recurrent pneumonia seen in Cali (Colombian Southwest region). MATERIALS AND METHODS: 16 subjects with PAD, 20 subjects with pulmonary complications (bronchiectasis or recurrent pneumonia) and 20 healthy donors (HD). Controls and probands between 14 and 64 years old, regardless of gender were included. Lymphocyte populations (T, B and NK cells) and B cell subsets were evaluated in peripheral blood mononuclear cells using flow cytometry, T/B/NK reagent and the pre-germinal center antibody panel proposed by the EUROflow consortium were used. EUROclass and the classification proposed by Driessen et al. were implemented. RESULTS: CVID patients exhibited increase absolute numbers of CD8+ T cells and reduce NK cells as compare with HD, other PAD cases or pulmonary complications. PAD B cell subsets were disturbed when compared to the age range-matched healthy donors. Among B cell subsets, the memory B cell compartment was the most affected, especially switched memory B cells. Four participants were classified as B- and two CVID as smB-Trnorm and smB-21low groups according to EUROclass classification. The most frequent patterns proposed by Driessen et al. were B cell production and germinal center defect. CONCLUSIONS: B cell subsets, especially memory B cells, are disturbed in PAD patients from Southwestern Colombia. To the best of our knowledge this is the most comprehensive study of B cell subsets in Colombian adults.

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Primary ciliary dyskinesia (PCD) causes cellular cilia motility alterations, leading to clinical manifestations in the upper and lower respiratory tract and situs abnormalities. The PCD diagnosis was improved after the inclusion of diagnostic tools, such as transmission electron microscopy and genetic screening; however, the PCD screening is a challenge yet. In this context, we aimed to describe the clinical, genetic, and ultra-ciliary characteristics in individuals with clinical suspicion of PCD (cPCD) from a Brazilian Tertiary Hospital. An observational study was carried out with individuals during the follow-up between 2011 and 2021. The individuals were submitted to clinical questionnaires, transmission electron microscopy, and genetic screening for pathogenic variants in PCD-related genes. Those patients were classified according to the degree of suspicion for PCD. In our study, we enrolled thirty-seven cPCD individuals; 20/37 (54.1%) had chronic rhinosinusitis, 28/37 (75.6%) had bronchiectasis, and 29/37 (78.4%) had recurrent pneumonia. A total of 17/37 (45.9%) individuals had transmission electron microscopy or genetic confirmation of PCD; 10 individuals had at least one positive pathogenic genetic variant in the PCD-related genes; however, only seven patients presented a conclusive result according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology with two pathogenic variants in homozygous or compound heterozygous. The median age at diagnosis was 13 years, and the median time between suspicion and diagnosis was four years. Sixteen patients had class I electron microscopy alterations, seven had class II alterations, and 14 had normal transmission electron microscopy according to the international consensus guideline for reporting transmission electron microscopy results in the diagnosis of PCD (BEAT-PCD TEM Criteria). Genetic screening for pathogenic variants in PCD-related genes and transmission electron microscopy can help determine the PCD diagnosis; however, they are still unavailable to all individuals with clinical suspicion in Brazil. We described ultrastructural alterations found in our population along with the identification of pathogenic variants in PCD-related genes.

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