Shwachman-Kulczycki score still useful to monitor cystic fibrosis severity

INTRODUCTION: The Shwachman-Kulczycki score was the first scoring system used in cystic fibrosis to assess disease severity. Despite its subjectivity, it is still widely used. OBJECTIVE: To study correlations among forced expiratory volume in one second (FEV1), chest radiography, chest computed tomography, 6-minute walk test, and Shwachman-Kulczycki score in patients with cystic fibrosis and to test whether the Shwachman-Kulczycki score is still useful in monitoring the severity of the disease. METHODS: A cross-sectional prospective study was performed to analyze the correlations (Spearman). Patients with clinically stable cystic fibrosis, aged 3-21 years, were included. RESULTS: 43 patients, 19F/24M, mean age 10.5 + 4.7 years, with a median Shwachman-Kulczycki score of 70 were studied. The median Brasfield and Bhalla scores were 17 and 10, respectively. The mean Z score for the 6-minute walk test was -1.1 + 1.106 and the mean FEV1 was 59 + 26 (as percentage of predicted values). The following significant correlations versus the Shwachman-Kulczycki score were found: FEV1 (r = 0.76), 6-minute walk test (r = 0.71), chest radiography (r = 0.71) and chest computed tomography (r = -0.78). When patients were divided according to FEV1, a statistically significantly correlation with the Shwachman-Kulczycki score was found only in patients with FEV1 <70% (r = 0.67). CONCLUSIONS: The Shwachman-Kulczycki score remains an useful tool for monitoring the severity of cystic fibrosis, adequately reflecting the functional impairment and chest radiography and tomography changes, especially in patients with greater impairment of lung function. When assessing patients with mild lung disease its limitations should be considered and its usefulness in such patients should be evaluated in larger populations

Sweat conductivity: An accurate diagnostic test for cystic fibrosis?

AbstractBackgroundSweat 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 <75 and ≥90mmol/L and <60 and ≥60mmol/L, respectively. The ROC curve method was used to calculate the sensitivity, specificity, positive (PPV) and negative predictive value (NPV), as well as the respective 95% confidence intervals and to calculate the area under the curve for both tests. The kappa coefficient was used to evaluate agreement between the tests.ResultsBoth tests were performed in 738 children, and CF was ruled out in 714 subjects; the median sweat chloride and conductivity values were 11 and 25mmol/L in these populations, respectively. Twenty-four patients who had received a diagnosis of CF presented median sweat chloride and conductivity values of 87 and 103mmol/L, respectively. Conductivity values above 90mmol/L had 83.3% sensitivity, 99.7% specificity, 90.9% PPV and 99.4% NPV to diagnose CF. The best conductivity cut-off value to exclude CF was <75mmol/L. Good agreement was observed between the tests (kappa: 0.934).ConclusionsThe sweat conductivity test yielded a high degree of diagnostic accuracy and it showed good agreement with sweat chloride. We suggest that it should play a role as a diagnostic test for CF in the near future

Recommendations for long-term home oxygen therapy in children and adolescents

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 bronchopulnnonary 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. (C) 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.Univ São Paulo Med Sch FMUSP, São Paulo, BrazilFMUSP, Inst Crianca, Hosp Clin, Pneumol Unit, São Paulo, BrazilSoc Pediat São Paulo, Dept Pneumol, São Paulo, BrazilUniv Estadual Campinas UNICAMP, Sch Med Sci, Campinas, SP, BrazilSoc Med & Cirurgia Campinas 2012 2014, Dept Pediat, Campinas, SP, BrazilUniversidade Federal de São Paulo UNIFESP, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, Pediat Pneumol Sect, São Paulo, BrazilFMUSP, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pediat, Pediat Pneumol Sect, São Paulo, BrazilWeb of Scienc

O impacto de primeiro ano de tratamento com dornase alfa nos parâmetros clínicos de pacientes com fibrose cística: estudo multicêntrico brasileiro

OBJECTIVE:To describe the clinical impact of the first year treatment with dornase alfa, according to age groups, in a cohort of Brazilian Cystic Fibrosis (CF) patients.METHODS:The data on 152 eligible patients, from 16 CF reference centers, that answered the medical questionnaires and performed laboratory tests at baseline (T0), and at six (T2) and 12 (T4) months after dornase alfa initiation, were analyzed. Three age groups were assessed: six to 11, 12 to 13, and >14 years. Pulmonary tests, airway microbiology, emergency room visits, hospitalizations, emergency and routine treatments were evaluated. Student's t-test, chi-square test and analysis of variance were used when appropriated.RESULTS:Routine treatments were based on respiratory physical therapy, regular exercises, pancreatic enzymes, vitamins, bronchodilators, corticosteroids, and antibiotics. In the six months prior the study (T0 phase), hospitalizations for pulmonary exacerbations occurred in 38.0, 10.0 and 61.4% in the three age groups, respectively. After one year of intervention, there was a significant reduction in the number of emergency room visits in the six to 11 years group. There were no significant changes in forced expiratory volume in one second (VEF1), in forced vital capacity (FVC), in oxygen saturation (SpO2), and in Tiffenau index for all age groups. A significant improvement in Shwachman-Kulczychi score was observed in the older group. In the last six months of therapy, chronic or intermittent colonization by P. aeruginosa was detected in 75.0, 71.4 and 62.5% of the studied groups, respectively, while S. aureus colonization was identified in 68.6, 66.6 and 41.9% of the cases.CONCLUSIONS:The treatment with dornase alfa promoted the maintenance of pulmonary function parameters and was associated with a significant reduction of emergency room visits due to pulmonary exacerbations in the six to 11 years age group, with better clinical scores in the >14 age group, one year after the intervention.OBJETIVO:Relatar el impacto clínico del primer año de tratamiento con dornasa alfa conforme a la franja de edad, en una cohorte de pacientes brasileños con fibrosis quística (FC).MÉTODOS:El presente estudio analizó datos de 152 pacientes elegibles, de 16 centros de referencia para FC, los que contestaron a los cuestionarios clínicos y realizaron pruebas laboratoriales, al inicio del tratamiento con la dornasa alfa (T0) y después de 6 (T2) y 12 (T4) meses de la intervención. Se analizaron 3 grupos etarios: 6-11, 12-13 e >14 años de edad. Se evaluaron las pruebas pulmonares, la microbiología de vías aéreas, las atenciones de emergencia, hospitalizaciones y tratamientos emergenciales y de rutina. Las estadísticas descriptivas, pruebas t y chi-cuadrado y ANOVA fueron usadas cuando pertinentes.RESULTADOS:El tratamiento regular se basó en la fisioterapia respiratoria, ejercicios regulares, encimas pancreáticas, vitaminas, broncodilatadores, corticosteroides y antibióticos. En los 6 meses anteriores al estudio (fase T0), las hospitalizaciones por exacerbación pulmonar ocurrieron en 38, 10 y 61,4%, respectivamente, para las tres franjas de edad analizadas. En el grupo 6-11 años, hubo reducción significativa de atenciones de emergencia después de 1 año de tratamiento. No hubo modificaciones significativas de volumen espiratorio forzado en el 1er segundo (VEF1), capacidad vital forzada (CVF), saturación de oxígeno (SpO)2 e índice de Tiffeneau, en todos grupos. El escore de Schwachman-Kulczychi mejoró significativamente en el grupo de más edad. Los últimos 6 meses de tratamiento, la colonización crónica o intermitente por P. aeruginosa fue detectada en el 75, 71,4 y 62,5%, respectivamente, mientras que por S. aureus ocurrió en 68,6, 66,6 y 41,9% de los casos en cada grupo de edad.CONCLUSIONES:La intervención con dornasa alfa resultó en mantenimiento de los parámetros pulmonares y fue asociada a la reducción significativa de visitas a la emergencia por exacerbación pulmonar en el grupo de 6 a 11 años de edad, con mejora del escore clínico en el grupo >14 años de edad, al final de un año de estudio.OBJETIVO:Relatar o impacto clínico do primeiro ano de tratamento com dornase alfa de acordo com a faixa etária, numa coorte de pacientes brasileiros com fibrose cística (FC).MÉTODOS:O presente estudo analisou dados de 152 pacientes elegíveis, de 16 centros de referência para FC, os quais responderam aos questionários clínicos e realizaram testes laboratoriais, ao início do tratamento com dornase alfa (T0) e após seis (T2) e 12 (T4) meses da intervenção. Analisaram-se três grupos etários: seis a 11, 12 a 13 e >14 anos de idade. Avaliaram-se os testes pulmonares, a microbiologia de vias aéreas, os atendimentos de emergência, as hospitalizações e os tratamentos emergenciais e rotineiros. O teste t de Student, o qui-quadrado e a análise de variância foram usados quando pertinentes.RESULTADOS:O tratamento baseou-se em fisioterapia respiratória, exercícios regulares, enzimas pancreáticas, vitaminas, broncodilatadores, corticosteroides e antibióticos. Nos seis meses anteriores ao estudo (fase T0), as hospitalizações por exacerbação pulmonar ocorreram em 38,0, 10,0 e 61,4%, respectivamente para as três faixas etárias analisadas. No grupo de seis a 11 anos, houve redução significativa de atendimentos de emergência após um ano de tratamento. Não houve modificações significativas de volume expiratório forçado no primeiro segundo (VEF1), capacidade vital forçada (CVF), saturação de oxigênio (SpO)2 e índice de Tiffeneau em todos os grupos. O escore de Shwachman-Kulczychi melhorou significativamente no grupo de mais idade. Nos últimos seis meses de tratamento, a colonização crônica ou intermitente por P.aeruginosa foi detectada em 75,0, 71,4 e 62,5%, respectivamente, enquanto a colonização por S.aureus ocorreu em 68,6, 66,6 e 41,9% dos casos em cada grupo etário.CONCLUSÕES:A intervenção com dornase alfa resultou em manutenção dos parâmetros pulmonares e associou-se à redução significativa de visitas à emergência por exacerbação pulmonar no grupo de seis a 11 anos de idade, com melhora do escore clínico no grupo >14 anos de idade ao final de um ano de estudo.Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina (EPM)Universidade Federal do Rio Grande do Sul Faculdade de MedicinaSecretaria da Saúde da Bahia Hospital Especializado Octávio MangabeiraUniversidade de São Paulo Faculdade de Medicina Hospital das ClínicasHospital de Base do Distrito FederalUNIFESP, EPMSciEL

Fibrose cística com dosagem de cloro no suor normal: relato de caso

A fibrose cística é uma doença genética usualmente diagnosticada através de teste anormal de dosagem de cloro no suor. Os autores descrevem o caso de uma paciente de 18 anos com bronquiectasias e infecção crônica por P. aeruginosa mas com dosagens de cloro no suor normais que evoluiu com rápido declínio da função pulmonar e piora clínica, a despeito do tratamento. Dada a forte suspeita de fibrose cística, realizou-se um teste de genotipagem amplo, evidenciando a presença de mutações deltaF508 e 3849+10kb C->;T, deste modo confirmando o diagnóstico de fibrose cística . Apesar da dosagem de cloro no suor ainda ser considerada o padrão ouro para o diagnóstico de fibrose cística , testes diagnósticos alternativos como genotipagem e medidas eletrofisiológicas devem ser empregados se há suspeita de fibrose cística , mesmo com níveis normais ou limítrofes de níveis de cloro no suor.Cystic fibrosis is a genetic disease usually diagnosed by abnormal sweat testing. We report a case of an 18-year-old female with bronchiectasis, chronic P. aeruginosa infection, and normal sweat chloride concentrations who experienced rapid decrease of lung function and clinical deterioration despite treatment. Given the high suspicion ofcystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10kb C->;T mutations, therefore confirming cystic fibrosis diagnosis. Although the sweat chloride test remains the gold standard for the diagnosis of cystic fibrosis, alternative diagnostic tests such as genotyping and electrophysiologic measurements must be performed if there is suspicion of cystic fibrosis, despite normal or borderline sweat chloride levels

Follow-up on pediatric patients with bronchiolitis obliterans treated with corticosteroid pulse therapy

Abstract\ud \ud Background\ud 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.\ud \ud \ud Methods\ud 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%).\ud \ud \ud Results\ud The frequency of wheezing exacerbations and hospitalizations was reduced (p = 0.0042 and p < 0.0001, respectively) and oxygen saturation improved (p = 0.0002) in the pulse therapy-treated patients. Prolonged oral corticosteroid therapy was discontinued in 83% of these patients. The mean Z-score length for age improved from -1.08 to -0.63, and the mean Z-score weight for age improved from -0.91 to -0.59. The adverse effects during the infusion were temporary and none were serious.\ud \ud \ud Conclusions\ud Our data suggest that pulse corticotherapy could be a safe alternative to prolonged systemic oral corticotherapy in children with BO, thus minimizing the adverse effects of the oral therapy. New prospective controlled studies are required to confirm this proposition