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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.

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<0.05., Results: A total of 31 patients (11 females; 16.4±2.3 years old) were evaluated, and the median scores on the questionnaire domains ranged from 66.7 to 100. A significant correlation was found between body mass index and the weight (r=0.43, p=0.016) and the eating questionnaire domains (r=0.44, p=0.013); between FEV1 and the physical (r=0.53, p=0.002) and treatment burden (r=0.41, p=0.023) domains; and between the Shwachman-Kulczycki score and the physical (r=0.39, p=0.03), health (r=0.41, p=0.023), and role (r=0.37, p=0.041) domains. A significant difference was found amongst patients with FEV1 values above or below 60% of the predicted value with regard to the role and health domains. No differences in the scores were found according to gender., Conclusions: The current cystic fibrosis specific quality of life questionnaire scores exhibited wide variability across all domains; however, they indicated a relatively satisfactory quality of life amongst the patients studied. Certain domains exhibited significant correlations with clinical parameters; thus, this instrument has consistent associations with clinical outcomes.

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.

Background: Sweat chloride test is the gold standard test for cystic fibrosis (CF) diagnosis. Sweat conductivity is widely used although still considered a screening test., Methods: This 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 ≥90 mmol/L and <60 and ≥60 mmol/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., Results: Both tests were performed in 738 children, and CF was ruled out in 714 subjects; the median sweat chloride and conductivity values were 11 and 25 mmol/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 103 mmol/L, respectively. Conductivity values above 90 mmol/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 <75 mmol/L. Good agreement was observed between the tests (kappa: 0.934)., Conclusions: The 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., (Copyright © 2014 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)

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 < 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., Conclusions: 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.

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 (VEF(1)), in forced vital capacity (FVC), in oxygen saturation (SpO(2)), 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.

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.

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., (Copyright © 2013 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.)

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 6-21 years, were included., Results: 34 patients, 14F/20M, mean age 12.1±4.0 years 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., (Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.)

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 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 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.

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.

Summary 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 (T(0)), and at 3 (T(1)), 6 (T(2)), 9 (T(3)), and 12 (T(4)) 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 (T(4) - T(0) = 8.1; 95% confidence interval (95% CI) = [2.1;14.0]; effect size (ES) = 0.35; P < 0.001), Emotional Functioning (T(4) - T(0) = 5.6; 95% CI = [1.1;10.1]; ES = 0.31; P < 0.05), Social Functioning (T(4) - T(0) = 6.0; 95% CI = [1.3;11.7]; ES = 0.31; P < 0.05), Body Image (T(4) - T(0) = 11.9; 95% CI = [4.1;19.7]; ES = 0.42; P < 0.05), and Treatment Burden (T(4) - T(0) = 5.3; 95% CI = [0.3;10.3]; ES = 0.24; P < 0.05) domains in the younger group. A significant improvement in Role Functioning (T(4) - T(0) = 6.1; 95% CI = [1.1;11.1]; ES = 0.40; P < 0.05), Body Image (T(4) - T(0) = 12.6; 95% CI = [3.5;21.7]; ES = 0.46; P < 0.05), and Weight (T(4) - T(0) = 11.7; 95% CI = [1.8;21.6]; ES = 0.40; P < 0.05) was obtained in the older group. The caregivers' CFQ-R showed improvements in the Digestive Symptoms (T(4) - T(0) = 5.5; 95% CI = [1.5;9.4]; ES = 0.30; P < 0.05), Respiratory Symptoms (T(4) - T(0) = 7.6; 95% CI = [3.9;11.4]; ES = 0.48; P < 0.05), and Weight (T(4) - T(0) = 10.1; 95% CI = [1.6;18.6]; ES = 0.26; P < 0.05) domains., Conclusion: The introduction of dornase alfa improved the HRQL of the patients with CF during the first year of treatment., ((c) 2010 Wiley-Liss, Inc.)

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 < 75 and > or = 90 mmol/L, respectively, and for the classic test the chloride values were < 60 and > 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.

Introduction: Pulmonary hemosiderosis (PH) is characterized by recurrent diffuse intra-alveolar hemorrhage associated to the presence of hemosiderin deposits inside macrophages. In the present Pediatric Rheumatology Service, during a 24 years period, 143 patients had JDM diagnosis and only one of them had associated PH (0.7%). There is no previous case report of PH and juvenile dermatomyositis (JDM) associated., Case Report: A male patient, 13 years old of age had recurrent anemia, cough, hemoptysis for 8 months. He had severe anemia and lung interstitial infiltrate on radiology studies. Bronchoalveolar lavage demonstrated hemosiderin deposits inside macrophage cells and positive Perl's reaction with PH diagnosis. The treatment was initiated with corticosteroids. After one month, he developed muscle weakness, Gottron's papules and elevated serum muscle enzymes. Muscle biopsy disclosed JDM diagnosis. Due to recurrent pulmonary hemorrhage, monthly methylprednisolone and cyclophosphamide pulses and intravenous immunoglobulin (IVIG) were started and clinical remission was achieved. He developed massive pulmonary hemorrhage, death and the necropsy confirmed PH., Discussion: PH had never been reported in the JDM population. The PH was a severe clinical complication and occurred previously to JDM diagnosis.

Objective: To evaluate the nutritional status of a group of cystic fibrosis patients and establish the role of nutrition education addressed to them in a comparative study before and after intervention., Methods: All cystic fibrosis patients in regular follow-up in the pulmonology clinic of Instituto da Crianca during 1996-99 were prospectively monitored for 3.5 years. Measurements of weight, height, mid upper arm circumference, skinfolds and calculations of weight/age, height/age, weight/height, mid upper arm circumference and triceps z scores, percentage of ideal weight for height, percentage of body fat, check of the use of enzymes with meals and of the use of nutritional supplements were performed at four points in time: initial (I), 7 (II), 13 (III) and 43 (IV) months after the first evaluation. Nutritional counseling was given both verbally and in writing (booklet) to all patients., Results: Seventy-four patients, 38F/36M, age range 6 months to 18.4 years were evaluated. At study entry the anthropometric data showed: percentage of ideal weight for height = 94+/-13, percentage of body fat = 15+/-7.1, z scores for weight/age = -1.13+/-1.3, z scores for height/age = -0.94+/-1.2, z scores for weight/height = -0.69+/-1.1, z scores for mid upper arm circumference = -1.35+/-1.3, triceps z scores = -0.74+/-0.9. Compliance with enzyme therapy and use of high-calorie supplements improved during the study period. There was a significant increase in weight/height and triceps z scores and percentage of body fat throughout the study period. After stratifying patients into three age groups the anthropometric improvement was only significant among children under 5 years of age, Conclusions: Mild malnutrition was present in this group of cystic fibrosis patients. The nutrition education led to an improvement in compliance with enzyme therapy, use of nutritional supplements and in nutritional status, mostly among the younger patients.

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 of cystic fibrosis, broad genotyping testing was performed, showing a compound heterozygous with deltaF508 and 3849+10 kb 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.

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.

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.