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BackgroundPatients with coronavirus disease-2019 (COVID-19) present varying clinical complications. Different viral load and host response related to genetic and immune background are probably the reasons for these differences. We aimed to sought clinical and pathological correlation that justifies the different clinical outcomes among COVID-19 autopsies cases.MethodsMinimally invasive autopsy was performed on forty-seven confirmed COVID-19 patients from May-July, 2020. Electronic medical record of all patients was collected and a comprehensive histopathological evaluation was performed. Immunohistochemistry, immunofluorescence, special stain, western blotting and post-mortem real-time reverse transcriptase polymerase chain reaction on fresh lung tissue were performed.ResultsWe show that 5/47 (10,6%) patients present a progressive decline in oxygenation index for acute respiratory distress syndrome (PaO2/FiO2ratio), low compliance levels, interstitial fibrosis, high α-SMA+ cells/protein expression, high collagens I/III deposition and NETs(P2/FiO2ratio, high pulmonary compliance levels, preserved elastic framework, increase thrombus formation and high platelets and D-dimer levels at admission (PConclusionsWe believe that categorization of patients based on these two phenotypes can be used to develop prognostic tools and potential therapies since the PaO2/FiO2ratio variation and D-dimer levels correlate with the underlying fibrotic or thrombotic pathologic process, respectively; which may indicate possible clinical outcome of the patient.

BACKGROUND: Correlation between pathology and imaging of the new SARS-Cov-2 disease (COVID-19) is scarce. This study aimed to characterize SARS-Cov-2 pneumonia on imaging of patients submitted to minimally invasive autopsy (MIA). METHODS: This unicentric retrospective observational study included 46 consecutive patients with confirmed COVID-19 who underwent MIA. All clinical chest images were reviewed and classified for the presence and grade of viral pneumonia, as well as disease evolution. On CT, phenotypes were described as consistent with mild, moderate, or severe viral pneumonia, with or without radiological signs of organizing pneumonia (OP). In severe pneumonia, CT could also be classified as diffuse progressive OP or radiological diffuse alveolar damage (DAD). Specific features on CT were noted, including fibroproliferative signs that could indicate potential or initial fibrosis. RESULTS: MIA showed a heterogeneous panel of alterations, with a high prevalence of OP and acute fibrinous and organizing pneumonia (AFOP). Also, signs of interstitial fibrosis corresponded to the most prevalent pathological feature. Initial chest radiography (CXR) findings were mainly consistent with moderate or severe viral pneumonia. Most patients showed stability or improvement (reduction of opacities) on imaging. CTs were performed on 15 patients. Consolidations were found in most patients, frequently showing features consistent with an OP phenotype. Fibroproliferative changes were also prevalent on CT. CONCLUSIONS: In this study, SARS-Cov-2 pneumonia showed heterogeneous radiological and pathological patterns. Signs of organization and potential or initial fibrosis were prevalent on both imaging and pathology. Imaging phenotyping may help to predict post-infection fibrosing interstitial pneumonitis in COVID-19.

INTRODUCTION The health and financial burden of mild-persistent asthma has been poorly investigated. OBJECTIVE Our aim was to compare the rate of hospital admissions that have occurred during the preceding year between children and adolescents with current mild-persistent (MP) and moderate-severe (MS) asthma. METHODS We screened children and adolescents with asthma at eight outpatient clinics. The inclusion criteria were asthma diagnosis, age from 6 to 18 years and follow-up with a physician during the preceding 6 months. Subjects answered standardized questionnaires and underwent spirometry. RESULTS We enrolled 220 MP and 102 MS asthmatic subjects. The proportion of subjects with HA during the preceding year was similar between MP and MS asthma groups (7% vs. 7%; p = .89). Symptoms score and the financial values spent by the family in the care of asthma were lower in MP asthma as compared with MS asthma group (asthma control questionnaire score 0.7 [0.3-1.0) vs. 2.0 [1.1-2.5]; p

Background/aims: The frequency of Human Leucocyte Antigens/alleles associated with rapid progression from Human Immunodeficiency Virus infection to Acquired Immunodeficiency Syndrome was evaluated in Brazilian patients with Acquired Immunodeficiency Syndrome with and without Toxoplasmic Encephalitis. Methods: 114 patients with Acquired Immunodeficiency Syndrome (41 with Toxoplasmic Encephalitis, 43 with anti-Toxoplasma gondii antibodies, without Toxoplasmic Eencephalitis, and 30 without anti-Toxoplasma gondii antibodies circulating and without Toxoplasmic Encephalitis) were studied. Results: Human Leucocyte Antigens/alleles associated with rapid progression to Acquired Immunodeficiency Syndrome, particularly HLA-B35, -DR3, and -DR1 allele group, were significantly less represented in patients with Toxoplasmic Encephalitis and Acquired Immunodeficiency Syndrome. Conclusion: The presence of these Human Leucocyte Antigens/Alleles that predispose to Acquired Immunodeficiency Syndrome progression was associated with resistance to Toxoplasmic Encephalitis among Human Immunodeficiency Virus-1 carriers. Keywords: HLA, AIDS, Encephalitis, T. gondii

Objective To describe trends of hospital admissions due to asthma from 2008 to 2015 and to evaluate their relationship with trends of inhaled corticosteroids (ICS) provision by the government in Brazil. Methods We used Brazilian Government data to calculate hospital admission rates due to asthma, number of physicians, number of hospital beds, number of subjects that received ICS per 100,000 inhabitants in Brazil and in each of its municipalities for each year of the study. We performed Poisson Multilevel Regression Analyses to evaluate the relationship between the trends of hospital admission rates due to asthma with the trends of the number of subjects that had been receiving ICS during the study period. The analyses were adjusted for the number of physicians and hospital beds. Findings The number of patients who received ICS/100,000 inhabitants increased from 2008 to 2015 (943.9–1988.5). Hospital admissions/100,000 inhabitants decreased in patients aged 5–14 years (148.3–110.9) and in patients aged 15–39 years (59.9–32.3); the reduction was greater in municipalities in which ICS provision increased. The number of physicians/100,000 inhabitants increased and the number of hospital beds/100,000 inhabitants decreased in the study period. The increase in the number of physicians and in the number of subjects that received ICS were associated with reduction in hospital admissions. Conclusion We found that provision of ICS by the Brazilian Government was associated with a decrease of hospital admissions for asthma in the municipalities and country levels from 2008 to 2015.

The association between pet ownership and the development of allergic and respiratory diseases has been the aim of several studies, however, the effects of exposure in adults remain uncertain. The aims of the present study were to investigate the prevalence of asthma and lung function status among dog and cat owners. This cross-sectional study was performed at two universities with students and workers who were allocated into 3 groups according to pet ownership in the previous year: cat owners, dog owners, and no pets (control group). Subjects underwent spirometry, bronchial challenge test with mannitol, skin prick tests, and questionnaires about animal exposures and respiratory symptoms. Control group comprised 125 subjects; cat owner group, 51 subjects; and dog owner group, 140 subjects. Cat owners had increased asthma prevalence (defined by symptoms and positive bronchial challenge test), but no changes in lung function compared to the control group. The dog owner group had lower spirometry values (forced expiratory volume in one second and lower forced vital capacity), but similar asthma prevalence, compared to the control group. In the cat owner group, excess of asthma may have an immunological basis, since we found an association with atopy. Although we did not have endotoxin data from volunteers' households, we postulated that low values of lung function were associated to exposure to endotoxins present in environments exposed to dogs.

There is no standard definition of asthma for epidemiological purposes; most surveys use symptoms and bronchial hyperresponsiveness. Few studies tested mannitol challenge test (MCT) in occupational settings. We sought to determine efficacy and safety of MCT in detecting subjects with asthma symptoms in the workplace.In this cross-sectional study we recruited 908 workers in 2 universities; they underwent a respiratory questionnaire, spirometry, skin prick tests, and MCT.Eight hundred and eleven subjects completed the study; 11.1% had a positive MCT; 8.14% had asthma. MCT had low sensitivity (35.4-61.9%) but high specificity (90.2-94.9%) to detect symptomatic individuals. The most prevalent symptom was wheezing in the last 12 months. Twenty-four of those with a positive MCT (26.7%) had no positive replies to the questions on asthma symptoms. Among subjects with a positive MCT, 71.9% achieved 95% of baseline FEVMCT has high specificity but low sensitivity to detect symptomatic subjects in the workplace. It may detect subjects with hyperresponsiveness but no symptoms, who could be at risk of developing airway diseases. The test is safe and well tolerated.

We report a case of intrathoracic goiter with positive Pemberton sign. Conventional spirometry did not show abnormalities, but arm elevation spirometry with flow-volume loops revealed expiratory flow limitation with a plateau. Clinicians should consider repeating flow-volume loops with arm elevation in all cases of intrathoracic goiter with initially normal loops.

Background/aims: The frequency of HLA markers associated with rapid progression to AIDS was evaluated in Brazilian patients with AIDS exhibiting or not toxoplasmic retinochoroiditis (TRC).Methods: 98 AIDS patients (25 with TRC, 43 with anti-T. gondii antibodies but without TCR, and 30 without anti-T. gondii antibodies and without TCR) were studied.Results: The HLA-B35 was significantly increased in TRC group (p= 0.0038).Conclusion: The presence of HLA-B35 may simultaneously predispose to progression to AIDS and TRC.

OBJECTIVES The aim of this estudy was to investigate the influence of allergen exposure levels and other risk factors for allergic sensitization, asthma, and bronchial hyperresponsiveness (BHR) in workers exposed to laboratory animals. METHODS This was a cross-sectional study performed at two universities, 123 workplaces with 737 subjects. Dust samples were collected from laboratories and animal facilities housing rats, mice, guinea pigs, rabbits, or hamsters and analyzed by enzyme-linked immunosorbent assay (ELISA) to measure allergen concentrations. We also sampled workplaces without animals. Asthma was defined by both symptoms and BHR to mannitol. The concentrations of allergens were tested for association with a skin prick test, respiratory symptoms, spirometry data, and BHR. This multivariate analysis was performed by using Poisson regression to estimate the relative risk (RR) for the exposed group. RESULTS Our sample comprised students and workers, with 336 subjects in the nonexposed group and 401 subjects in the exposed group. Sixty-nine subjects (17%) had positive results in the skin prick test for animal allergens in the exposed group; in the nonexposed group, 10 subjects had positive results (3%) (p

To perform a quantitative analysis of the airways using automated software, in computed tomography images of patients with cystic fibrosis, correlating the results with spirometric findings.Thirty-four patients with cystic fibrosis were studied-20 males and 14 females; mean age 18 ± 9 years-divided into two groups according to the spirometry findings: group I (On average, 52 bronchi per patient were studied. The number of bronchi analyzed was higher in group II. The correlation with spirometry findings, especially between the relative wall thickness of third to eighth bronchial generation and predicted FEV1, was better in group I.Quantitative analysis of the airways by computed tomography can be useful for assessing disease severity in cystic fibrosis patients. In patients with severe airflow obstruction, the number of bronchi studied by the method is higher, indicating more bronchiectasis. In patients without severe obstruction, the relative bronchial wall thickness showed a good correlation with the predicted FEV1.Realizar a análise quantitativa das vias aéreas utilizando programa automático, em imagens de tomografia computadorizada de pacientes com fibrose cística, correlacionando com a espirometria.Foram estudados 34 pacientes com fibrose cística - 20 masculinos e 14 femininos; idade de 18 ± 9 anos -, divididos em dois grupos segundo a espirometria: grupo I (Na média, foram estudados 52 brônquios por paciente. O número de brônquios analisados foi maior no grupo II. A correlação com a espirometria foi melhor no grupo I, principalmente entre a espessura relativa da parede da terceira a oitava geração brônquica e o VEF1 previsto.A análise quantitativa das vias aéreas em imagens de tomografia computadorizada pode ser útil na avaliação da gravidade da doença na fibrose cística. Nos pacientes com obstrução grave ao fluxo aéreo, o número de brônquios estudados pelo método é maior, indicando mais bronquiectasias. Nos pacientes sem obstrução grave, a espessura relativa da parede dos brônquios tem boa correlação com o VEF1 previsto.

Information for patients provided by the pharmacist is reflected in adhesion to treatment, clinical results and patient quality of life. The objective of this study was to assess an asthma self-management model for rational medicine use. This was a randomized controlled trial with 60 asthmatic patients assigned to attend five modules presented by a pharmacist (intervention group) and 59 patients in the control group. Data collection was performed before and after this 4-month intervention and included an evaluation of asthma knowledge, lifestyle, inhaler techniques, adhesion to treatment, pulmonary function and quality of life. An economic viability analysis was also performed. The intervention group obtained an increase in asthma knowledge scores of 58.3-79.5% (P < 0.001). In this group, there was also an increase in the number of individuals who practiced physical exercise (36-43%), in the number of correct replies regarding the use of inhalers, in the percentage of adherent patients, and in quality of life scores for all domains. We concluded that this asthma self-management model was effective in improving the quality of life of asthma patients.

We report a case of intrathoracic goiter with positive Pemberton sign. Conventional spirometry did not show abnormalities, but arm elevation spirometry with flow-volume loops revealed expiratory flow limitation with a plateau. Clinicians should consider repeating flow-volume loops with arm elevation in all cases of intrathoracic goiter with initially normal loops.

Adding a long-acting beta(2)-agonist to inhaled corticosteroids (ICS) for asthma treatment is better than increasing ICS dose in improving clinical status, although there is no consensus about the impact of this regimen on inflammation. In this double-blind, randomized, parallel group study, asthmatics with moderate to severe disease used budesonide (400 mcg/day) for 5 weeks (run-in period); then they were randomized to use budesonide (800 mcg/day--BUD group) or budesonide plus formoterol (400 mcg and 24 mcg/day, respectively--FORMO group) for 9 weeks (treatment period). Home PEF measurements, symptom daily reporting, spirometry, sputum induction (for differential cell counts and sputum cell cultures), and hypertonic saline bronchial challenge test were performed before and after treatments. TNF-alpha, IL-4 and eotaxin-2 levels in the sputum and cell culture supernatants were determined. Morning and night PEF values increased in the FORMO group during the treatment period (p

Introdução: O diagnóstico de bronquiectasias é baseado nos achados clínicos, tomografia computadorizada e nos resultados de testes de função pulmonar como avaliação complementar. Diferente da espirometria, o Sistema de Osciometria de Impulso (IOS) detecta alterações precoces no sistema respiratório, além de fornecer uma análise compartimentada das vias aéreas. Objetivo: Correlacionar índices clínicos, funcionais e morfológicos em pacientes com bronquiectasias não-decorrentes de fibrose cística (BNFC). Metodologia: 38 pacientes com BNFC, clinicamente estáveis, entre 19 e 76 anos, foram submetidos a avaliações clínicas (antropometria, escala Medical Research Council - MRC e Bronchiectasis Severity Index - BSI), funcionais (espirometria e IOS) e morfológicas (tomografia computadorizada de alta resolução - TCAR de tórax, analisada por escore subjetivo TCAR e por análise quantitativa automática). Resultados: As melhores correlações obtidas entre os índices funcionais e morfológicos do sistema respiratório foram: R5 e medida normalizada da espessura da parede brônquica para uma via aérea com perímetro interno de 10mm (Pi10) (r=0,57) e FEF25-75% e escore TCAR (r=-0,39). O BSI, assim como o MRC, apresentaram correlações melhores com a análise quantitativa automática da TCAR (BSI e Pi10: r=0,41; MRC e Pi10: r=0,35) do que com o escore subjetivo (BSI e escore TCAR: r=0,41; MRC e escore TCAR: r=0,15) e, correlações fracas e moderadas foram obtidas com ambos os índices funcionais do sistema respiratório (BSI e R5-R20: r=0,53; BSI e VEF1: R=-0,64; MRC e R5-R20: r= 0,42; MRC e VEF1: r=-0,45). Conclusão: Em pacientes com BNFC, métodos compartimentados de avaliação do sistema respiratório (IOS e análise quantitativa automática da TCAR) correlacionam-se melhor entre si quando comparados com métodos globais (espirometria e escore subjetivo da TCAR). Background: Bronchiectasis diagnosis is based on clinical findings, high-resolution computed tomography and by pulmonary function tests (PFT) as a complementary evaluation. When compared to spirometry, Impulse Oscillometry System (IOS) detects early changes in respiratory system both in central and peripheral airways. Objective: To correlate clinical, function and morphological indexes in patients with non-cystic fibrosis bronchiectasis (NCFB). Metodology: 38 clinically stable NCFB patients, between 19 and 76 years old, were submitted to clinical (anthropometric measurements, MRC scale and bronchiectasis severity index - BSI), functional (spirometry and impulse oscillometry system - IOS) and morphological (computed tomography analysed by a subjective score and an automated quantitative analysis) evaluations. Results: The bests correlations obtained between functional and morphological airway indexes were: R5 and Pi10 (r=0.57), and FEF25-75% and CT score (r=-0.39). BSI as well as MRC showed bests correlations with the quantitative automated analysis of CT (BSI and Pi10: r-0.41; MRC and Pi10: r=0.35) than with subjective CT score (BSI and CT score: r=0.41; MRC and CT score: r=0.15); and moderated and weak correlations were obtained on both functional airways indexes (BSI and R5-R20: r=0.53; BSI and FEV1: r=-0.64; MRC and R5-R20: r=0.42; and MRC and FEV1: r=-0.45). Conclusion: In NCFB patients, compartmental methods of respiratory system analysis (IOS and automated quantitative CT analysis) correlated better between itself than when compared with global methods (spirometry and subjective CT score).

Introdução: Sintomas musculoesqueléticos são a principal causa de procura por atendimento médico no nível primário de assistência à saúde. Os médicos generalistas frequentemente expressam baixo nível de confiança na capacidade de diagnosticar e tratar doenças reumáticas. Objetivo: Avaliar a concordância de diagnóstico das doenças reumáticas entre os níveis primário e terciário de atenção à saúde através da comparação entre o diagnóstico presente nas Guias de Referência do SUS e o diagnóstico obtido pela equipe de reumatologia de um serviço terciário de referência. Materiais e Métodos: Foram comparados os diagnósticos do nível primário com aqueles obtidos por médicos residentes em reumatologia e reumatologistas seniores de um serviço de referência. Sensibilidade (S), especificidade (E), valor preditivo positivo (VPP) e coeficiente Kappa (k) foram obtidos tendo como padrão-ouro a avaliação dos reumatologistas seniores. Resultados: De 497 guias avaliadas, 426 possuem diagnóstico final. Os valores de k entre nível primário e terciário para os agrupamentos de doenças foi: doenças reumáticas não inflamatórias (-0,18), colagenoses e vasculites (0,5), artrite reumatoide (0,38), espondiloartrites (0,45) e doenças não reumáticas (0,15). Conclusão: O serviço terciário de reumatologia recebe muitos casos de baixa complexidade, que deveriam ser mantidos na atenção primária. O grau de concordância diagnóstica entre os médicos da atenção primária e a equipe de reumatologia foi baixo, demonstrando a necessidade de aprimorar o ensino médico das doenças reumáticas durante o curso de medicina. Background: Musculoskeletal symptoms are the leading cause of demand for medical care at the primary healthcare, where physicians often have insufficient skills to diagnose and treat rheumatic diseases. Aims: To evaluate the concordance of the diagnostic of rheumatic diseases between the primary and tertiary health care levels by comparing the diagnosis present in the Public Health System (PHS) referral letters and the diagnosis obtained by the rheumatology team from a tertiary service. Materials and Methods: Diagnoses of referral letters were compared with those obtained by two groups of rheumatologists at the tertiary service: trainee and senior. Sensitivity (S), specificity (E), positive predictive value (PPV) and Kappa coefficient (k) of the two comparisons were obtained, with the senior evaluation as the gold standard. Results: 497 referral letters were summoned and 426 received a definitive diagnosis. We find the following values of k between basic care and tertiary service diagnoses: non-inflammatory rheumatic diseases (-0,18), systemic connective tissue diseases and vasculitis (0,5), rheumatoid arthritis (0,38), spondyloarthritis(0,45) and non-rheumatic diseases (0,15). Conclusion: The tertiary rheumatology department receives many cases of low complexity, which should be kept in primary care. The degree of diagnostic agreement between the primary care physicians and the rheumatology team was low, demonstrating the need of improvement on teaching rheumatic diseases.

Objetivamos neste trabalho, primeiramente, atualizar o banco de imagens de nódulos pulmonares do Centro de Ciências das Imagens e Física Médica (CCIFM) e, posteriormente, descrever as características tomográficas dos nódulos que representam neoplasia pulmonar primária, identificados em exames de pacientes com outra neoplasia primária extrapulmonar em avaliação. Após a atualização e revisão do banco de nódulos, foram selecionados os casos consecutivos de neoplasia pulmonar diagnosticados em pacientes com outra neoplasia conhecida em avaliação clínica (estadiamento ou seguimento). As imagens de tomografia computadorizada (TC) dos casos identificados nos últimos 5 anos foram avaliadas retrospectivamente por dois radiologistas com experiência em imagem torácica, com o objetivo de descrever as características das lesões pulmonares quanto à posição, número, forma, margens, realce pós-contraste, presença de broncogramas aéreos, angiogramas, cavidades, invasão brônquica e \"tags\" pleurais, assim como a associação com enfisema radiológico e exposição a outros fatores de risco clínicos. As características tomográficas mais prevalentes foram: lesão periférica, sólida, redonda/oval, com contornos espiculados ou lobulados, realce homogêneo pós-contraste, associada a presença de \"tag\" pleural. Enfisema pulmonar estava presente na maioria dos exames (52%). Em apenas 12% foi observada a apresentação mais típica do câncer pulmonar, ou seja, paciente com antecedente de tabagismo, enfisema pulmonar e nódulo espiculado no lobo superior. Além da apresentação típica, outras características morfológicas de maior especificidade têm sido descritas na literatura médica para reconhecimento das neoplasias pulmonares, especialmente para os adenocarcinomas. Desta maneira, neste trabalho foram revisadas estas características tomográficas em uma série de casos diagnosticados em nossa instituição, reforçando que, apesar de todos os avanços recentes na análise funcional e quantitativa por imagem das neoplasias pulmonares, a análise morfológica ainda é importante para o diagnóstico e adequado manejo destes pacientes. Firstly, the aim of this study was to update the pulmonary nodule image bank of the Center for Imaging Sciences and Medical Physics (CCIFM) and, later, to describe the tomographic characteristics of the nodules that represent primary lung cancer, identified in examinations of patients with another extrapulmonary cancer in evaluation. After updating and reviewing the nodule bank, consecutive cases of pulmonary neoplasia diagnosed in patients with another known neoplasia in clinical evaluation (staging or follow-up) were selected. Computed tomography (CT) images of the cases identified in the last 5 years were retrospectively evaluated by two radiologists with chest imaging experience, with the objective of describing the characteristics of the lung lesions in terms of position, number, shape, margins, and postcontrast enhancement, presence of air bronchograms, angiograms, cavities, bronchial invasion and pleural tags, as well as association with radiological emphysema and exposure to other clinical risk factors. The most prevalent tomographic characteristics were: peripheral, solid, round / oval lesion with spiculated or lobulated contours, homogeneous post-contrast enhancement, associated with the presence of pleural tag. Pulmonary emphysema was present in most examinations (52%). Only 12% had the most typical presentation of lung cancer, that is, a patient with a history of smoking, pulmonary emphysema and spiculated nodule in the upper lobe. In addition to the typical presentation, other morphological features of greater specificity have been described in the medical literature to recognize pulmonary neoplasms, especially for adenocarcinomas. Thus, in this work, these tomographic characteristics were reviewed in a series of cases diagnosed at our institution, reinforcing that, despite all recent advances in functional and quantitative imaging analysis of lung neoplasms, morphological analysis is still important for the diagnosis and proper management of these patients.

Introdução: A doença pulmonar obstrutiva crônica (DPOC) é caracterizada por limitação ao fluxo aéreo, sendo progressiva e contínua, com diagnóstico baseado na avaliação clínica dos sintomas e espirometria. O tabagismo e a exposição à fumaça de biomassa são alguns dos fatores etiológicos para esta doença. Objetivo: Conhecer as diferenças clínicas, funcionais e tomográficas em voluntários com DPOC por exposição ao tabagismo e por exposição ambiental e/ou ocupacional. Material e Método: É um estudo observacional, transversal e analítico de indivíduos com diagnóstico de DPOC realizado no HCFMRP-USP. Todos os participantes foram submetidos à tomografia computadorizada de alta resolução (TCAR), gasometria arterial, espirometria, mensuração da difusão pulmonar de monóxido de carbono, indução de escarro, coleta de sangue venoso e responderam a um instrumento construído, a escala de dispnéia mMRC, escala de gravidade de DPOC CAT e questionário sócio-demográfico. Foi utilizado o teste exato de Fisher para as variáveis qualitativas e foi realizado para as variáveis quantitativas o teste \"t\" de Student para amostras independentes ou teste não paramétrico de Wilcoxon para amostras independentes. Resultados: Para o estudo, foram incluídos 31 pacientes, 16 pacientes do grupo ambiental e/ ou ocupacional e 15 pacientes do grupo tabagista. Foi observado predomínio do sexo feminino em ambos os grupos. No grupo com DPOC ambiental e/ou ocupacional, foi observada maior média de idade (p = 0,00003); menor grau de instrução (p = 0,02); maior frequência de dispneia (p = 0,015); menor SpO2 no final do teste da caminhada de 6 minutos (p = 0,02), menor pO2 corrigida pela idade e SaO2 (p = 0,02, em ambas as variáveis) e no escarro induzido maior número de células (p = 0,04) e no grupo com DPOC por exposição ao tabagismo foi observado maior ocorrência de enfisema (p < 0,025) e no escarro induzido, maior concentração de IL8 (p = 0,04) e IL6 (p = 0,03). Conclusão: A DPOC ambiental e/ou ocupacional difere da DPOC de etiologia tabagista em relação à gasometria (PaO2 e SaO2), mesmo quando os grupos são semelhantes em gravidade da DPOC e também ocorreu maior frequência de dispneia, mostrando maior acometimento deste grupo. Este grupo apresenta um comportamento de paciente com fenótipo de bronquite crônica e nesta doença a hipoxemia é mais grave e inspira maior atenção por parte da equipe multidisciplinar Introduction: Chronic obstructive pulmonary disease (COPD) is characterized by airflow limitation, being progressive and continuous, with a diagnosis based on the clinical evaluation of the symptoms and spirometry. Smoking and exposure to biomass smoke are some of the etiological factors for this disease. Objective: Identify clinical, functional and tomographic differences in volunteers with COPD due to exposure to smoking and environmental and / or occupational exposure. Material and Method: Observational, transversal and analytical study with individuals with COPD diagnosis performed at HCFMRP-USP. All participants underwent high-resolution computed tomography (HRCT), arterial blood gas analysis, spirometry, pulmonary diffusion of carbon monoxide measurement, sputum induction, venous blood collection and responded to a built instrument, mMRC dyspnea scale, severity of COPD CAT and socio-demographic questionnaire. Fisher\'s exact test was used for qualitative variables and Student\'s t-test for independent samples or Wilcoxon\'s non-parametric test for independent samples was performed for the quantitative variables. Results: For the study, 31 patients were included, 16 patients from the environmental and/or occupational group and 15 from the smoking group. Females predominated in both groups. In the group with environmental and/or occupational COPD, a higher mean age (p = 0.00003) was observed; lower level of education (p = 0.02); higher frequency of dyspnea (p = 0.015); lower SpO2 at the end of the 6-minute walk test (p = 0.02), lower age-corrected pO2 and SaO2 (p = 0.02, in both variables) and in sputum induced higher levels of IL8 (p = 0.04), and IL6 (p = 0.03), respectively. The highest incidence of emphysema (p < 0.025) and induced sputum was observed in the group with COPD. Conclusion: Environmental and/or occupational COPD differs from COPD of smoking etiology in relation to arterial blood gas (pO2 and SaO2), even when the groups are similar in severity of COPD, and also a higher frequency of dyspnea occurred, showing a greater involvement of this group. The group presents a behavior of patients with phenotype of chronic bronchitis and in this disease the hypoxemia is more serious and inspires greater attention on the part of the multidisciplinary team

Pneumonia intersticial familiar (PIF) é definida como a ocorrência de pelo menos dois casos de pneumonia intersticial fibrosante em uma mesma família biológica. Apesar do avanço sobre o tema em anos recentes, ainda não há estudos brasileiros nessa área. O objetivo deste estudo foi caracterizar uma amostra de pacientes brasileiros com PIF quanto aos aspectos clínicos, radiológicos, anatomopatológicos e genéticos, bem como analisar os respectivos comprimentos teloméricos (CT). Entre março de 2014 e novembro de 2017 foi realizada uma busca ativa por casos de PIF. Os pacientes identificados foram submetidos a testes de função pulmonar; tomografia computadorizada de alta resolução (TCAR) de tórax e a coleta de amostras de sangue. Ainda foram realizadas avaliações empregando ficha clínica padronizada. Amostras de tecido pulmonar foram obtidas e revisadas em seis casos. Empregando-se um kit apropriado, DNA genômico foi extraído de células brancas do sangue periférico. A avaliação do CT foi feita pelo método de Southern blot. Um painel envolvendo 154 genes de interesse foi desenvolvido pelo grupo de pesquisa e construído pela empresa Agilent Technologies. A pesquisa desses genes foi realizada empregando-se técnicas de sequenciamento de nova geração (NGS-Illumina). Foram selecionados 35 pacientes, com idade mediana de 66 (35,5-89,3) anos. Tabagismo e outras exposições ambientais estiveram presentes em 45,7% e 80% dos casos, respectivamente. Estertores finos foram identificados em 91,4% dos pacientes e baqueteamento digital em 20%. Os testes de função pulmonar foram classificados como restritivos em 20 (57,1%), normais em 10 (28,6%), inespecíficos em 4 (11,45) e obstrutivo leve em 1 (2,9%). A DCO esteve reduzida nos 30 pacientes em que foi possível pesquisá-la. Padrão típico de PIU na TCAR foi detectado em 6 (17,1%) pacientes e padrão indeterminado para PIU em outros 4 (11,4%). A maioria dos casos, 25 (71,4%), exibiu padrão tomográficoinconsistente com PIU. A revisão do material anatomopatológico revelou pneumonite intersticial com acentuação bronquiolocêntrica em quatro indivíduos. A grande maioria (85,7%) mostrou CTs inferiores ao percentil 50%. Quatro indivíduos exibiram CTs curtos e um muito curto. Foram identificadas variantes genéticas comuns no promotor do gene MUC5B (rs35705950), nos genes TOLLIP (rs111521887, rs5743894 e rs5743890) ou TERT (rs2736100) em 90% dos casos. Detectaram-se ainda sete variantes raras distintas. As alterações c.2594G>A e c.2146G>A do gene TERT, e c.394C>T do gene RTEL1, previamente descritas e associadas a telomeropatias. Uma anormalidade de TERT (c.1730G>A) e outra de RTEL1 (c.2299C>T) inéditas. Duas outras variantes raras encontradas já conhecidas, ainda não haviam sido associadas a doenças pulmonares: gene SHQ1 (c.828_831del) e gene WRAP53 (c.1558dupG). Em conclusão, pacientes brasileiros com PIF demonstram acentuada heterogeneidade fenotípica e genotípica. Este estudo identificou ainda duas novas variantes genéticas raras associadas a PIF e dois possíveis novos genes implicados na patogênese dessa doença. Familial interstitial pneumonia (FIP) is defined as the occurrence of at least two cases of interstitial fibrosing pneumonias in the same biological family. Despite advances in the field in recent years, there are no Brazilian studies in this area. The aim of this study was to characterize a sample of Brazilian patients with PIF regarding clinical, radiological, histological and genetic aspects, as well as to analyze the respective telomeric lengths (TL). Between March 2014 and November 2017 an active search was conducted for FIP cases. The patients identified were submitted to pulmonary function tests, high resolution computed tomography (HRCT) of the chest and the collection of blood samples. In addition, a standardized clinical file was also fulfilled. Pulmonary tissue samples were obtained and reviewed in six cases. Using a suitable kit, genomic DNA was extracted from white peripheral blood cells. The TL measurements were done by Southern blot method. A panel of 154 genes of interest was developed by the research group and built by Agilent Technologies. Research on these genes was carried out using next generation sequencing techniques (NGSIllumina). Thirty-five patients were selected, with a median age of 66 (35.5-89.3) years. Smoking and other environmental exposures were present in, respectively, 45.7% and 80% of the cases. Fine crackles were identified in 91.4% of patients and digital clubbing in 20%. Pulmonary function tests were classified as restrictive in 20 (57.1%), normal in 10 (28.6%), non-specific in 4 (11.45) and mild obstructive in 1 (2.9%). The DLCO was reduced in the 30 patients in whom it was possible to investigate it. Typical pattern of UIP in HRCT was detected in 6 (17.1%) patients and undetermined pattern for UIP in another 4 (11.4%). The majority of cases, 25 (71.4%), showed a tomographic pattern inconsistent with UIP. The review of histological material revealed interstitial pneumonitis with bronchiolocentric accentuation in four individuals. The vast majority (85.7%) showed TL lower than the 50th percentile. Four individuals had short TL and one a very short TL. Commongenetic variants were identified in the MUC5B gene promoter (rs35705950), in the TOLLIP genes (rs111521887, rs5743894 and rs5743890) or TERT (rs2736100) in 90% of the cases. Seven different rare variants were also detected: the changes c.2594G> A and c.2146G> A of the TERT gene, and c.394C> T of the RTEL1 gene, previously described and associated with telomeropathy; one previously unknown abnormality of TERT (c.1730G> A) and another of RTEL1 (c.2299C> T); two additional rare genetic variants, had not yet been associated with pulmonary diseases: SHQ1 gene (c.828_831del) and WRAP53 gene (c.1558dupG). In conclusion, FIP Brazilian patients demonstrate marked phenotypic and genotypic heterogeneity. This study also identified two new rare genetic variants associated with FIP and two other possible new genes implicated in the pathogenesis of this disease.