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Background The Brazilian population has a tri-hybrid composition with a high degree of ethnic admixture. We hypothesized that Brazilian individuals with CF from different Brazilian regions have a specific distribution of CFTR variants. Methods Individuals with CF with data available in the Patient Registry and without an established genotype were submitted to CFTR sequencing by Next Generation Sequencing (NGS) methodology, and results were anonymously incorporated to the Registry Database. Genotyping results were expressed as ‘positive’, ‘inconclusive’ or ‘negative’. Logistic regression models were performed to investigate the association between demographic/clinical variables and genotyping results. Mediation analysis was conducted to estimate direct and indirect effects of Brazilian region on a binary positive genotyping response. Results In October 2017, data from 4,654 individuals with CF were available, and 3,104(66.7%) of them had a genotyping result. A total of 236 variants (114 new variants) were identified, with F508del identified in 46% of the alleles tested. Genotyping revealed 2,002(64.5%) individuals positive, 757(24.4%) inconclusive and 345(11.1%) negative. Distribution of genotype categories was markedly different across Brazilian Regions, with greater proportions of negative individuals in the North (45%) and Northeast (26%) regions. Newborn screening (CF-NBS) and age at diagnosis were identified as mediators of the effect of Brazilian region on a positive genotyping result. Conclusions This large initiative of CFTR genotyping showed significant regional discrepancies in Brazil, probably related to socio-economic conditions, lack of adequate CF-NBS and poor access to reliable sweat testing. These results may be useful to indicate Regions where CF care demands more attention.

Objective: Although various strategies have been proposed for eradicating Pseudomonas aeruginosa in patients with cystic fibrosis (CF), only a few employ multistep treatment in children colonized by that pathogen for the first time. The aim of this study was to describe the effectiveness of a three-phase eradication protocol, initiated after the first isolation of P. aeruginosa, in children with CF in Brazil. Methods: This was a retrospective real-life study in which we reviewed the medical records of pediatric CF patients in whom the eradication protocol was applied between June of 2004 and December of 2012. The three-phase protocol was guided by positive cultures for P. aeruginosa in airway secretions, and the treatment consisted of inhaled colistimethate and oral ciprofloxacin. Success rates were assessed after each phase, as well as cumulatively. Results: During the study period, 47 episodes of P. aeruginosa colonization, in 29 patients, were eligible for eradication. Among the 29 patients, the median age was 2.7 years, 17 (59%) were male, and 19 (65%) had at least one F508del allele. All 29 patients completed the first phase of the protocol, whereas only 12 and 6 completed the second and third phases, respectively. Success rates for eradication in the three treatment phases were 58.6% (95% CI: 40.7-74.5), 50.0% (95% CI: 25.4-74.6), and 66.7% (95% CI: 30.0-90.3), respectively. The cumulative success rate was 93.1% (95% CI: 78.0-98.1). Treatment failure in all three phases occurred in only 2 patients. Conclusions: In this sample of patients, the multistep eradication protocol was effective and had a high success rate. RESUMO Objetivo: Embora várias estratégias de erradicação de Pseudomonas aeruginosa tenham sido propostas para pacientes com fibrose cística (FC), apenas algumas usaram um tratamento em fases e incluíram crianças na primeira colonização por esse patógeno. O objetivo deste estudo foi descrever a eficácia de um protocolo de erradicação em três fases em crianças com FC a partir do primeiro isolamento de P. aeruginosa no Brasil. Métodos: Estudo retrospectivo de vida real que avaliou prontuários de pacientes pediátricos com FC submetidos ao protocolo de erradicação entre junho de 2004 e dezembro de 2012. O protocolo em três fases foi orientado pela cultura positiva para P. aeruginosa de secreções das vias aéreas, utilizando-se colistimetato inalatório e ciprofloxacina oral no tratamento. As taxas de sucesso após cada fase e a de sucesso acumulado foram avaliadas. Resultados: Durante o período do estudo, 47 episódios de colonização por P. aeruginosa, em 29 pacientes, foram elegíveis para erradicação. Todos os 29 pacientes foram submetidos à primeira fase do protocolo (mediana de idade de 2,7 anos, 17 pacientes (59%) do sexo masculino e 19 (65%) com pelo menos um alelo F508del), sendo que 12 e 6 pacientes foram submetidos a segunda e terceira fases, respectivamente. As taxas de sucesso de erradicação nas três fases de tratamento foram de 58,6% (IC95%: 40,7-74,5), 50,0% (IC95%: 25,4-74,6) e 66,7% (IC95%: 30,0-90,3), respectivamente. A taxa de sucesso acumulado foi de 93,1% (IC95%: 78,0-98,1). Apenas 2 pacientes apresentaram falha do tratamento de erradicação. Conclusões: O primeiro isolamento de P. aeruginosa ocorreu em crianças de baixa idade. O protocolo de erradicação em fases foi efetivo com alta taxa de sucesso.

OBJECTIVES: The current study sought to evaluate the quality of life of young patients with cystic fibrosis and correlate these results with the clinical parameters indicative of disease severity. METHODS: This cross-sectional study applied the validated Portuguese version of a cystic fibrosis specific quality of life questionnaire to clinically stable patients aged 14 to 21 years old. The correlations between the questionnaire domain scores and forced expiratory volume in one second (FEV1) values, the Shwachman-Kulczycki score, and body mass index were assessed, and correlations were considered as significant when p

Cystic fibrosis (CF) is an autosomal recessive genetic disorder characterized by dysfunction of the CFTR gene. It is a multisystem disease that most often affects White individuals. In recent decades, various advances in the diagnosis and treatment of CF have drastically changed the scenario, resulting in a significant increase in survival and quality of life. In Brazil, the current neonatal screening program for CF has broad coverage, and most of the Brazilian states have referral centers for the follow-up of individuals with the disease. Previously, CF was limited to the pediatric age group. However, an increase in the number of adult CF patients has been observed, because of the greater number of individuals being diagnosed with atypical forms (with milder phenotypic expression) and because of the increase in life expectancy provided by the new treatments. However, there is still great heterogeneity among the different regions of Brazil in terms of the access of CF patients to diagnostic and therapeutic methods. The objective of these guidelines was to aggregate the main scientific evidence to guide the management of these patients. A group of 18 CF specialists devised 82 relevant clinical questions, divided into five categories: characteristics of a referral center; diagnosis; treatment of respiratory disease; gastrointestinal and nutritional treatment; and other aspects. Various professionals working in the area of CF in Brazil were invited to answer the questions devised by the coordinators. We used the PubMed database to search the available literature based on keywords, in order to find the best answers to these questions. RESUMO A fibrose cística (FC) é uma doença genética autossômica recessiva caracterizada pela disfunção do gene CFTR. Trata-se de uma doença multissistêmica que ocorre mais frequentemente em populações descendentes de caucasianos. Nas últimas décadas, diversos avanços no diagnóstico e tratamento da FC mudaram drasticamente o cenário dessa doença, com aumento expressivo da sobrevida e qualidade de vida. Atualmente, o Brasil dispõe de um programa de ampla cobertura para a triagem neonatal de FC e centros de referência distribuídos na maior parte desses estados para seguimento dos indivíduos. Antigamente confinada à faixa etária pediátrica, tem-se observado um aumento de pacientes adultos com FC tanto pelo maior número de diagnósticos de formas atípicas, de expressão fenotípica mais leve, assim como pelo aumento da expectativa de vida com os novos tratamentos. Entretanto, ainda se observa uma grande heterogeneidade no acesso aos métodos diagnósticos e terapêuticos para FC entre as diferentes regiões brasileiras. O objetivo dessas diretrizes foi reunir as principais evidências científicas que norteiam o manejo desses pacientes. Um grupo de 18 especialistas em FC elaborou 82 perguntas clínicas relevantes que foram divididas em cinco categorias: características de um centro de referência; diagnóstico; tratamento da doença respiratória; tratamento gastrointestinal e nutricional; e outros aspectos. Diversos profissionais brasileiros atuantes na área da FC foram convidados a responder as perguntas formuladas pelos coordenadores. A literatura disponível foi pesquisada na base de dados PubMed com palavras-chave, buscando-se as melhores respostas às perguntas dos autores.

BackgroundSweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis. Sweat conductivity is widely used although still considered a screening test.MethodsThis was a prospective, cross-sectional, diagnostic research conducted at the laboratory of the Instituto da Criança of the Hospital das Clínicas, São Paulo, Brazil. Sweat chloride (quantitative pilocarpine iontophoresis) and sweat conductivity tests were simultaneously performed in patients referred for a sweat test between March 2007 and October 2008. Conductivity and chloride cut-off values used to rule out or diagnose CF were

Background Patients with postinfectious bronchiolitis obliterans (PIBO) usually have severe airflow obstruction and respond poorly to β-adrenergic drugs. However, the bronchodilator response to an anticholinergic agent such as tiotropium bromide is not known. We studied the acute bronchodilator response to tiotropium for up to 24 h in children with PIBO using spirometric and plethysmographic criteria. Methods A randomized, double-blind, placebo-controlled, crossover, prospective study was performed in patients with stable PIBO, 6 to 16 years of age. Standard spirometry and plethysmography were performed before and at 30, 60, 120, and 180 min and 24 h after inhalation of 18 μg of tiotropium or a placebo. After 7 to 14 days, the drugs were inverted, and the procedures were repeated. The changes in lung function parameters at each time point were compared with the baseline by analysis of variance and Tukey posttest, and the differences in all time points assessments vs baseline in tiotropium vs placebo groups were compared using the Friedman test. Results A total of 30 patients were enrolled in the study (23 boys, seven girls; aged 10.9 ± 2.8 years) with baseline lung function values (% predicted) of FVC, FEV1, FEV1/FVC, forced expiratory flow between 25% and 75% of FVC (FEF25%-75%), total lung capacity (TLC), residual volume (RV), RV/TLC, airway resistance (Raw), and specific airway conductance (sGaw) of 75 ± 15, 48 ± 14, 59 ± 11, 22 ± 11, 120 ± 19, 281 ± 101, 49 ± 13, 250 ± 65, and 23 ± 9, respectively. Statistically significant differences were observed after tiotropium inhalation in the following parameters compared with baseline: FVC at 60, 120, and 180 min and 24 h; FEV1 at 30, 60, 120, and 180 min; FEV1/FVC at 60, 120, and 180 min; FEF25%-75% at 60, 120, and 180 min; RV at 30, 60, 120, and 180 min; TLC at 30, 120, and 180 min; RV/TLC at 30, 60, 120, and 180 min; Raw at 30, 60, 120, and 180 min and 24 h; and sGaw at 30, 60, 120, and 180 min and 24 h. For the placebo group, no significant differences were observed in any lung function parameters at any time. The differences in the main functional measurements between the tiotropium and placebo groups were statistically significant. Conclusions Tiotropium acutely decreased airway obstruction and air trapping for up to 24 h in children with PIBO.

The current available literature evaluating lung resection surgery and lung transplantation in children with cystic fibrosis (CF) was reviewed through a PubMed search and references from selected studies were additionally included. Pulmonary resections, i.e. lobectomy, segmentectomy, and pneumonectomy, are seldom performed in CF. The main indications, in patients with a forced expiratory volume in 1second (FEV1) that is greater than 30% predicted, are localized bronchiectasis/atelectasis, severe hemoptysis, and bronchopleural fistula refractory to medical management. The potential benefits are decreased symptoms and pulmonary exacerbations, and an improved quality of life. Pre and postoperative intensive care is mandatory for surgical candidates. The risk of death should be taken into account when the procedure is considered. Selection for lung transplantation (LTx) candidates in children with CF in South America follows the International Society for Heart and Lung Transplantation (ISHLT) criteria. When compared to adults with CF, a poorer survival rate after LTx in children with CF has been observed in the literature, as well as in our LTx center in Brazil, reasons for which are still unknown. The main complications after LTx in children are early and late acute rejection, and infections. LTx is a therapeutic option for eligible children with CF, fulfilling the lung transplant candidacy criteria, as post-transplant survival rates are increasingly improving due to better management of the transplanted patient.

Objective: To advise pediatricians, neonatologists, pulmonologists, pediatric pulmonologists, and other professionals in the area on the main indications and characteristics of long-term home oxygen therapy in children and adolescents. Data source: A literature search was carried out in the MEDLINE/PubMed database (1990 to 2011). Additionally, references from selected studies were included. As consistent scientific evidence does not exist for many aspects, some of the recommendations were based on clinical experience. Data synthesis: Long-term home oxygen therapy has been a growing practice in pediatric patients and is indicated in bronchopulmonary dysplasia, cystic fibrosis, bronchiolitis obliterans, interstitial lung diseases, and pulmonary hypertension, among others. The benefits are: decrease in hospitalizations, optimization of physical growth and neurological development, improvement of exercise tolerance and quality of sleep, and prevention of pulmonary hypertension/cor pulmonale. The levels of oxygen saturation indicative for oxygen therapy differ from those established for adults with chronic obstructive pulmonary disease, and vary according to age and disease. Pulse oximetry is used to evaluate oxygen saturation; arterial blood gas is unnecessary. There are three available sources of oxygen: gas cylinders, liquid oxygen, and oxygen concentrators. The flows used are usually smaller, as are the number of hours/day needed when compared to the use in adults. Some diseases show improvement and oxygen therapy discontinuation is possible. Conclusions: Long-term home oxygen therapy is increasingly common in pediatrics and has many indications. There are relevant particularities when compared to its use in adults, regarding indications, directions for use, and monitoring. Resumo: Objetivo: Orientar pediatras, neonatologistas, pneumologistas, pneumologistas pediátricos e outros profissionais envolvidos na área sobre as principais indicações e as particularidades da oxigenoterapia domiciliar prolongada em crianças e adolescentes. Fontes dos dados: Pesquisa bibliográfica na base de dados MEDLINE/PubMed (1990 a 2011). Adicionalmente, referências de estudos selecionados foram incluídas. Como para muitos dos aspectos não existem evidências científicas consistentes, algumas recomendações citadas foram feitas com base em experiência clínica. Síntese dos dados: Oxigenoterapia domiciliar prolongada tem sido uma prática crescente nos pacientes pediátricos e se encontra indicada em casos de displasia broncopulmonar, fibrose cística, bronquiolite obliterante, pneumopatias intersticiais, hipertensão pulmonar, etc. Ressaltam-se como benefícios: redução de internações, otimização do crescimento físico e do desenvolvimento neurológico, melhora da tolerância ao exercício e da qualidade do sono e prevenção da hipertensão pulmonar/Cor pulmonale. Os níveis de saturação de oxigênio indicativos para a oxigenoterapia diferem dos estabelecidos para adultos com doença pulmonar obstrutiva crônica e variam de acordo com a doença e faixa etária. Para a avaliação da saturação de oxigênio, utiliza-se a oximetria de pulso, sendo a gasometria arterial dispensável. Há três fontes de oxigênio disponíveis: cilindros gasosos, oxigênio líquido e concentradores de oxigênio. Os fluxos utilizados costumam ser menores, assim como o número de horas/dia necessários, quando comparados ao uso em adultos. Em algumas doenças há melhora, e a suspensão do oxigênio é possível. Conclusões: Oxigenoterapia domiciliar prolongada é uma terapêutica cada vez mais comum em pediatria e suas indicações são numerosas. Há particularidades relevantes quando comparada aos adultos em relação às indicações, modo de uso e monitorização. Keywords: Home oxygen therapy, Children, Oxygen, Palavras-chave: Oxigenoterapia domiciliar, Crianças, Oxigênio

Background Health-related quality of life (HRQOL) measurements provide valuable information about the psychological and social impact of treatment on patients with cystic fibrosis (CF). This study evaluated the HRQOL of Brazilian patients with CF and assessed the changes in HRQOL domains over 1 year after dornase alfa (Pulmozyme) introduction. Patients and Methods One hundred fifty-six stable patients with CF and 89 caregivers answered the Portuguese-validated version of the Cystic Fibrosis Questionnaire-Revised (CFQ-R) at baseline (T0), and at 3 (T1), 6 (T2), 9 (T3), and 12 (T4) months of follow-up. Eighteen patients were excluded because they did not fulfill the inclusion criteria. The patients were analyzed in two groups: those aged 6–11 years and those aged 14 years and older. ANOVA for observed repeated results and the last observation carried forward (LOCF) method for missing data were used for the statistical analysis. Results After 1 year of follow-up, there was significant improvement in respiratory symptoms (T4 − T0 = 8.1; 95% confidence interval (95% CI) = [2.1;14.0]; effect size (ES) = 0.35; P

OBJETIVO: Revisar a discinesia ciliar primária (DCP) quanto aos seus aspectos ultra-estruturais, discriminar os defeitos ciliares primários dos secundários, descrever o quadro clínico, os testes laboratoriais de triagem e de diagnóstico disponíveis, bem como seu manejo clínico. FONTE DE DADOS: Pesquisa nas bases de dados Medline, Lilacs e SciELO, no período de 1980 a 2007. SÍNTESE DOS DADOS: A DCP é uma doença autossômica recessiva que compromete a estrutura e/ou a função ciliar e, conseqüentemente, o transporte mucociliar. As manifestações clínicas envolvem o trato respiratório superior e inferior, com infecções recorrentes do ouvido médio, seios paranasais e pulmonares, que podem evoluir para bronquiectasias. Outras manifestações incluem situs inversus totalis e infertilidade masculina. O diagnóstico deve ser suspeitado pelos pediatras em várias situações: recém-nascidos de termo com desconforto respiratório sem causa aparente; neonatos portadores de dextrocardia; lactentes com tosse persistente e/ou infecções otorrinolaringológicas de repetição, excluindo-se as imunodeficiências e a fibrose cística; crianças com asma atípica e as com bronquiectasias sem causa definida. Os testes de triagem diagnóstica são os da sacarina e do óxido nítrico nasal. As avaliações do defeito ultra-estrutural e funcional exigem análise por microscopia eletrônica e da freqüência e formato da onda de batimento ciliar. CONCLUSÕES: A DCP, apesar da baixa prevalência, é pouco diagnosticada pelas dificuldades de estabelecer o diagnóstico definitivo do defeito ciliar devido à complexidade da investigação laboratorial e pela falta de reconhecimento da doença pelos médicos. A suspeita clínica e o diagnóstico precoce são fundamentais para reduzir a morbidade e prevenir o desenvolvimento de complicações.

OBJETIVO: Avaliar o estado nutricional de um grupo de pacientes com fibrose cística e analisar a repercussão do aconselhamento nutricional através de um estudo comparativo pré- e pós-intervenção. MÉTODOS: Todos os pacientes com fibrose cística em seguimento regular no ambulatório de pneumologia do Instituto da Criança no período de 1996-99 foram prospectivamente acompanhados durante 3,5 anos. Em quatro etapas (I = inicial, II = 7 meses, III = 13 meses, IV = 43 meses), foi realizada uma avaliação nutricional que consistia de medidas de peso, estatura/comprimento, circunferência do braço e pregas cutâneas, e cálculos de escores z para peso/idade, estatura/idade, peso/estatura, circunferência do braço e da prega cutânea tricipital, porcentagem de peso/estatura e porcentagem de gordura corpórea. Era feita verificação do uso das enzimas pancreáticas e do uso de suplementos nutricionais. Aconselhamento nutricional verbal e através de uma cartilha explicativa foi realizado em todos os pacientes. RESULTADOS: Foram avaliados 74 pacientes, 38 do sexo feminino e 36 do masculino, com idades de 6 meses a 18,4 anos. Na etapa inicial, os dados antropométricos revelaram: porcentagem de peso/estatura = 94±13, porcentagem de gordura corpórea = 15±7,1, escore z peso/idade = -1,13±1,3, escore z estatura/idade = -0,94±1,2, escore z peso/estatura = -0,69±,1, escore z circunferência do braço = -1,35±1,3, escore z prega cutânea tricipital = -0,74±0,9. A aderência ao uso de enzimas e suplementos melhorou durante o estudo. Houve um aumento significativo no escore z de peso/idade e da prega tricipital e na porcentagem de gordura corpórea durante todo o período de estudo. Dividindo-se os pacientes em três grupos etários, a melhora antropométrica só foi significativa nos menores de 5 anos. CONCLUSÕES: Desnutrição leve estava presente nesse grupo de pacientes com fibrose cística. O aconselhamento nutricional realizado possibilitou melhora na aderência ao uso de enzimas pancreáticas e de suplementos nutricionais e no estado nutricional, principalmente nos pacientes de baixa idade.

OBJECTIVES: To point out primary ciliary dyskinesia as a cause of chronic respiratory disease in children.METHODS: A 10 year literature review on Medline and by direct research about the subject.RESULTS AND CONCLUSIONS: Primary ciliary dyskinesia is a disorder characterized by an abnormal mucociliary clearance. It affects both the upper and lower respiratory tracts and usually the clinical manifestations start in the first years of life. It can progress to bronchiectasis. Kartageners syndrome is the typical genetic manifestation. The diagnosis may be based on an abnormal saccharin test, but its confirmation depends on abnormal ultrastructure of the cilia or abnormal ciliary function. Many ciliary defects are currently known. The treatment is supportive, with measures to enhance mucociliary clearance, such as chest physiotherapy, prevention of infections by immunizations and prompt antibiotic therapy in the acute respiratory infections.

A fibrose cistica e uma doenca genetica usualmente diagnosticada atraves de teste anormal de dosagem de cloro no suor. Os autores descrevem o caso de uma paciente de 18 anos com bronquiectasias e infeccao cronica por P. aeruginosa mas com dosagens de cloro no suor normais que evoluiu com rapido declinio da funcao pulmonar e piora clinica, a despeito do tratamento. Dada a forte suspeita de fibrose cistica, realizou-se um teste de genotipagem amplo, evidenciando a presenca de mutacoes DF508 e 3849+10kb C®T, deste modo confirmando o diagnostico de fibrose cistica . Apesar da dosagem de cloro no suor ainda ser considerada o padrao ouro para o diagnostico de fibrose cistica , testes diagnosticos alternativos como genotipagem e medidas eletrofisiologicas devem ser empregados se ha suspeita de fibrose cistica , mesmo com niveis normais ou limitrofes de niveis de cloro no suor.

Background The six-minute-walk-test (6MWT) has been increasingly used in cystic fibrosis (CF) patients. However, few studies in children have correlated 6MWT with current parameters used to evaluate CF severity. Moreover, no study transformed the values of distance walked from meters into Z scores to avoid bias like age and gender, which are sources of 6MWT variability. Methods A cross-sectional descriptive study was performed to analyze the correlations (Spearman) among forced expiratory volume in one second (FEV 1 ), body mass index (BMI), chest radiography (CXR), chest tomography (CT), and 6MWT Z score (Z-6MWT). Clinically stable CF patients, aged 6–21years, were included. Results 34 patients, 14F/20M, mean age 12.1±4.0years were studied. The mean Z-6MWT was −1.1±1.106. The following correlations versus Z-6MWT were found: FEV 1 (r=0.59, r 2 =0.32, p=0.0002), BMI Z score (r=0.42, r 2 =0.17, p=0.013), CXR (r=0.34, r 2 =0.15, p=0.0472) and CT (r=−0.45, r 2 =0.23, p=0.0073). Conclusions In conclusion there was a significant, but poor, correlation between the six minute walk test Z score and the cystic fibrosis severity markers currently in use.

OBJETIVOS: Descrever as características clínicas e laboratoriais dos pacientes em oxigenoterapia domiciliar prolongada acompanhados pelo programa de atendimento domiciliar do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, durante um período de 8 anos, e comparar os grupos com e sem hipertensão pulmonar secundária. Estimar o custo do programa utilizando concentradores versus cilindros de oxigênio arcados pela instituição. MÉTODOS: Estudo descritivo retrospectivo e de coorte dos pacientes em oxigenoterapia domiciliar prolongada, em seguimento no período de 2002 a 2009, na Unidade de Pneumologia do Instituto da Criança do Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo. RESULTADOS: Foram estudados 165 pacientes, 53% do sexo masculino, com as medianas: idade de início da oxigenoterapia - 3,6 anos; tempo de oxigenoterapia - 7 anos; e tempo de sobrevida após início da oxigenoterapia - 3,4 anos. Os principais diagnósticos foram: fibrose cística (22%), displasia broncopulmonar (19%) e bronquiolite obliterante (15%). Dos 33 pacientes que realizaram espirometria, 70% apresentavam distúrbio ventilatório obstrutivo grave. O exame ecocardiográfico foi executado em 134 pacientes; 51% deles tinham hipertensão pulmonar secundária. Houve associação estatisticamente significante entre: presença de hipertensão pulmonar e necessidade de maiores fluxos de oxigênio (qui-quadrado, p = 0,011); e presença de hipertensão pulmonar e maior tempo de oxigenoterapia (Logrank, p = 0,0001). Não houve diferença estatisticamente significante entre tempo de sobrevida após início da oxigenoterapia e presença de hipertensão pulmonar. Os custos médios mensais do programa foram: US$ 7.392,93 para os concentradores e US$ 16.630,92 para cilindros. CONCLUSÕES: A oxigenoterapia domiciliar prolongada foi empregada em distintas doenças crônicas, predominantemente em lactentes e pré-escolares. Houve alta frequência de hipertensão pulmonar associada a maiores períodos de uso e fluxos de oxigênio, sem associação à sobrevida. A substituição dos cilindros por concentradores poderá reduzir custos significativamente. OBJECTIVES: To describe the clinical and laboratory characteristics of patients on long-term home oxygen therapy followed up by the home care program of Hospital das Clínicas, School of Medicine, Universidade de São Paulo, during a period of 8 years; to compare groups with and without secondary pulmonary hypertension; and to estimate the cost of the program using oxygen concentrators versus oxygen cylinders provided by the hospital. METHODS: A descriptive, retrospective cohort study of patients on long-term home oxygen therapy followed up from 2002 to 2009 at the Unit of Pulmonology, Children's Institute, Hospital das Clínicas, School of Medicine, Universidade de São Paulo. RESULTS: We studied 165 patients, of whom 53% were male, with the following medians: age at the beginning of oxygen therapy - 3.6 years; duration of oxygen therapy - 7 years; and survival time after beginning of oxygen therapy - 3.4 years. The main diagnoses were: cystic fibrosis (22%), bronchopulmonary dysplasia (19%), and bronchiolitis obliterans (15%). Of the 33 patients who underwent spirometry, 70% had severe obstructive lung disease. Echocardiogram was performed in 134 patients; 51% of them had secondary pulmonary hypertension. There was a statistically significant association between pulmonary hypertension and need of higher oxygen flows (chi-square, p = 0.011), and between pulmonary hypertension and longer duration of oxygen therapy (Logrank, p = 0.0001). There was no statistically significant difference between survival time after the beginning of oxygen therapy and pulmonary hypertension. The average monthly costs of the program were US$ 7,392.93 for concentrators and US$ 16,630.92 for cylinders. CONCLUSIONS: Long-term home oxygen therapy was used to treat different chronic diseases, predominantly in infants and preschool children. There was a high frequency of pulmonary hypertension associated with longer periods of oxygen use and greater oxygen flow, without association with survival rate. The use of concentrators instead of cylinders may reduce costs significantly.

Objectives: To describe the clinical and laboratory characteristics of patients on long-term home oxygen therapy followed up by the home care program of Hospital das Clinicas, School of Medicine, Universidade de Sao Paulo, during a period of 8 years; to compare groups with and without secondary pulmonary hypertension; and to estimate the cost of the program using oxygen concentrators vs. oxygen cylinders provided by the hospital. Methods: A descriptive, retrospective cohort study of patients on long-term home oxygen therapy followed up from 2002 to 2009 at the Unit of Pulmonology, Children’s Institute, Hospital das Clinicas, School of Medicine, Universidade de Sao Paulo. Results: We studied 165 patients, of whom 53% were male, with the following medians: age at the beginning of oxygen therapy – 3.6 years; duration of oxygen therapy – 7 years; and survival time after beginning of oxygen therapy – 3.4 years. The main diagnoses were: cystic fibrosis (22%), bronchopulmonary dysplasia (19%), and bronchiolitis obliterans (15%). Of the 33 patients who underwent spirometry, 70% had severe obstructive lung disease. Echocardiogram was performed in 134 patients; 51% of them had secondary pulmonary hypertension. There was a statistically significant association between pulmonary hypertension and need of higher oxygen flows (chi-square, p = 0.011), and between pulmonary hypertension and longer duration of oxygen therapy (Logrank, p = 0.0001). There was no statistically significant difference between survival time after the beginning of oxygen therapy and pulmonary hypertension. The average monthly costs of the program were US$ 7,392.93 for concentrators and US$ 16,630.92 for cylinders. Conclusions: Long-term home oxygen therapy was used to treat different chronic diseases, predominantly in infants and preschool children. There was a high frequency of pulmonary hypertension associated with longer periods of oxygen use and greater oxygen flow, without association with survival rate. The use of concentrators instead of cylinders may reduce costs significantly.

OBJECTIVE To compare sweat chloride values obtained by quantitative pilocarpine iontophoresis (classic test) with the sweat conductivity values obtained using Macroduct collection system in patients with and without cystic fibrosis (CF). The cost and time spent to carry out each test were also analyzed. METHODS The sweat test using both techniques was performed at the same time in patients with and without CF. Conductivity cutoff values to rule out or diagnose CF were or = 90 mmol/L, respectively, and for the classic test the chloride values were or = 60 mmol/L. RESULTS Fifty-two patients with CF (29 males and 23 females; aged from 1.5 to 18.2 years) underwent the sweat test using both techniques, showing median sweat chloride and conductivity values of 114 and 122 mmol/L, respectively. In all of them, conductivity was > or = 95 mmol/L, which provided the test with 100% sensitivity (95%CI 93.1-100). Fifty patients without CF (24 males and 26 females; aged from 0.5 to 12.5 years) had median sweat chloride and conductivity values of 15.5 and 30 mmol/L, respectively. In all cases, conductivity was < 70 mmol/L, which provided the test with 100% specificity (95%CI 92.9-100). Time spent to perform the tests was significantly shorter for the conductivity test, and its cost was also lower. CONCLUSIONS The conductivity test showed high sensitivity and specificity, and there was good correspondence between the tests. The time spent to carry out the conductivity test was shorter and the cost was lower in comparison with the classic test.

Objective To evaluated the effect of short-term oral supplementation in the nutritional status of 14 patients with cystic fibrosis in 19 hospital admissions. Methods All patients received standard pulmonary therapy, and to 13 patients (Group I = GI) a high-fat oral supplement was offered besides the standard diet. The control group (GII) received the same diet except for the supplement. Anthropometric measurements, quantitative assessment of energy intake and serum biochemical parameters were determined on admission and prior to discharge from hospital. Results There was no difference in the weight gain between groups (median: GI=+1000 g; GII=+550 g), nor in the variations of height, skinfolds and body fat. Z scores were calculated (mean-/+SD: weight/age, GI=-2.19-/+1.0, GII=-2.57-/+1.1; height/age, GI=-1.73-/+1.4, GII=-2.06-/+1.4 ), showing that those patients had chronic severe malnutrition, with no changes in Z Score in this period. The diet offered to the patients provided the RDA for calories only in the supplemented group, and this value was significantly higher compared to the non-supplemented group (mean -/+ SD : GI= 146-/+20% RDA; GII=105-/+13%RDA). The energy intake was significantly higher in group I (mean-/+SD: GI=126-/+22%RDA; GII= 81-/+27%RDA), and it increased significantly by the end of admission in this group. The biochemical assessment revealed low levels of prealbumin in both groups on admission (mean-/+SD: GI=11-/+10mg/dl; GII=8-/+8 mg/dl), with significant increase only in group I (mean-/+SD: GI=23-/+15 mg/dl; GII=8-/+11 mg/dl). No variations in the levels of triglycerides were observed, but the cholesterol levels increased significantly in both groups. Conclusions Although the weight gain was similar in both groups, prealbumin increased only in the supplemented group. This group had a higher energy intake than the non-supplemented one, and it reached the RDA for calories.

Objetivo: Alertar para o diagnóstico de traqueobroncomegalia como um diagnóstico diferencial em pacientes pediátricos portadores de pneumopatias crônicas. Métodos: Revisão do prontuário de um paciente com traqueobroncomegalia em seguimento no ambulatório de Pneumologia do Instituto da Criança. Foi realizada uma revisão deste tema com base em pesquisa no banco de dados do sistema Medline, abrangendo as publicações dos últimos 10 anos. Resultados: Trata-se de um paciente de 15 anos, do sexo masculino, branco, que iniciou seguimento no ambulatório de Pneumologia do Instituto da Criança do HCFMUSP aos 10 anos de idade. Apresentava história de sibilância e infecções respiratórias de repetição desde os cinco meses de idade, sendo a princípio tratado como asmático, porém com pouca resposta. Durante a investigação foi realizada tomografia computadorizada de tórax, que revelou aumento dos diâmetros da traquéia e do brônquio fonte direito, sendo então confirmado o diagnóstico de traqueobroncomegalia. Conclusão: A traqueobroncomegalia é uma entidade rara em crianças. Deve ser investigada em pacientes com pneumopatias crônicas, sem diagnóstico etiológico definido. Até o momento não há tratamento específico.

Background Bronchiolitis obliterans (BO) is a rare but severe disease in children. Currently, there is no consensus on the treatment for BO with respect to the systemic use of corticosteroids. Here we report on the follow-up of children with a diagnosis of BO who were treated with corticosteroid pulse therapy. Methods Forty patients fulfilling the BO diagnosis criteria were treated with methylprednisolone pulse therapy in monthly cycles until clinical improvement. After the pulse therapy began, we analyzed the clinical and laboratory data at intervals. Statistical analyses were performed using non-parametric tests to compare repeated measures (Friedman, Wilcoxon) or paired nominal data (McNemar) (α = 5%). Results The frequency of wheezing exacerbations and hospitalizations was reduced (p = 0.0042 and p