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Objective: To determine the prevalence of hepatic steatosis (HS) in children and adolescents with cystic fibrosis (CF) and associate it with nutritional status., Methods: Cross-sectional study with children and adolescents with CF diagnosis. Weight and height were used to calculate the body mass index (BMI) and subsequent classification of the nutritional status. The midarm circumference (MAC), triceps skinfold thickness (TSF) and midarm muscle circumference (MAMC) were used to evaluate body composition. Abdominal ultrasonography was performed for diagnosis of HS. The statistical tests used were Student's t test, Mann-Whitney test and chi-square test with significance level of 5%., Results: 50 patients with CF were evaluated, 18 (36%) were diagnosed with HS (Group A) and 32 (64%) without HS (Group B). The mean age of Group A was 13,2±4,9 years old and Group B 11,7±4,9; for BMI, the value for Group A was 18,0±4,1 and Group B was 15,7±3,8; the TSF of Group A was 8,4±3,5 mm and Group B was 7,0±2,5 mm. For these variables, there was no significant difference between the groups. The mean of MAC and MAMC differed significantly between the groups, being higher in the HS group, with p values of 0,047 and 0,043., Conclusions: The frequency of HS in patients with CF is high and it is not related to malnutrition, according to the parameters of BMI, TSF and MAMC. The values of MAC and MAMC indicated a greater reserve of muscle mass in patients with HS.

Background: To assess the quality of sweat test (ST) based on the proportion of sweat sodium and sweat chloride as diagnostic parameter of cystic fibrosis (CF)., Methods: A retrospective study of 5,721 sweat samples and subsequent descriptive analysis were carried out. The test was considered "of good quality" (correct) when: (i) sweat chloride was lower than 60 mEq/L, and sweat sodium was higher than sweat chloride; (ii) sweat chloride was higher than 60 mEq/L, and sweat sodium was lower than sweat chloride., Results: The study included 5,692/5,721 sweat samples of ST which had been requested due to clinical presentations compatible with CF and/or neonatal screenings with altered immunoreactive trypsinogen values. Considering the proportion of sweat sodium and sweat chloride as ST quality parameter, the test was performed correctly in 5,023/5,692 (88.2 %) sweat samples. The sweat chloride test results were grouped into four reference ranges for chloride (i) chloride < 30 mEq/L: 3,651/5,692 (64.1 %); (ii) chloride ≥ 30 mEq/L to < 40 mEq/L: 652/5,692 (11.5 %); (iii) ≥ 40 mEq/L to < 60 mEq/L: 673/5,692 (11.8 %); (iv) ≥ 60 mEq/L: 716/5,692 (12.6 %). In the comparative analysis, there was no association between ST quality and: (i) symptoms to indicate a ST [respiratory (p = 0.084), digestive (p = 0.753), nutritional (p = 0.824), and others (p = 0.136)], (ii) sweat weight (p = 0.416). However, there was a positive association with: (i) gender, (ii) results of ST (p < 0.001), (iii) chloride/sodium ratio (p < 0.001), (iv) subject's age at the time of ST [grouped according to category (p < 0.001) and numerical order (p < 0.001)]. For the subset of 169 patients with CF and two CFTR mutations Class I, II and/or III, in comparative analysis, there was a positive association with: (i) sweat chloride/sodium ratio (p < 0.001), (ii) sweat chloride values (p = 0.047), (iii) subject's age at the time of the ST grouped by numerical order (p = 0.001)., Conclusions: Considering that the quality of ST can be assessed by levels of sweat sodium and sweat chloride, an increasing number of low-quality tests could be observed in our sweat samples. The quality of the test was associated with important factors, such as gender, CF diagnosis, and subjects' age.

Objective: The aim of this study was to evaluate by clinical and laboratory parameters how cystic fibrosis (CF) affects growth and nutritional status of children who were undergoing CF treatment but did not receive newborn screening., Methods: A historical cohort study of 52 CF patients younger than 10 years of age were followed in a reference center in Campinas, Southeast Brazil. Anthropometric measurements were abstracted from medical records until March/2010, when neonatal screening program was implemented. Between September/2009 and March/2010, parental height of the 52 CF patients were also measured., Results: Regarding nutritional status, four patients had Z-scores ≤ -2 for height/age (H/A) and body mass index/age (BMI/A). The following variables were associated with improved H/A ratio: fewer hospitalizations, longer time from first appointment to diagnosis, longer time from birth to diagnosis and later onset of respiratory disease. Forced vital capacity [FVC(%)], forced expiratory flow between 25-75% of FVC [FEF25-75(%)], forced expiratory volume in the first second [FEV1(%)], gestational age, birth weight and early respiratory symptoms were associated with IMC/A., Conclusions: Greater number of hospitalizations, diagnosis delay and early onset of respiratory disease had a negative impact on growth. Lower spirometric values, lower gestational age, lower birth weight, and early onset of respiratory symptoms had negative impact on nutritional status. Malnutrition was observed in 7.7% of cases, but 23% of children had nutritional risk., (Copyright © 2014 Associação de Pediatria de São Paulo. Publicado por Elsevier Editora Ltda. All rights reserved.)

Objective: To compare spirometry and volumetric capnography (VCap) to determine if the capnographic values add more information about early lung disease in cystic fibrosis (CF) patients., Methods: This was a cross-sectional study involving CF patients: Group I (42 patients, 6-12 years of age); and Group II (22 patients, 13-20 years of age). The corresponding control groups were comprised of 30 and 50 healthy subjects, respectively. Forced vital capacity (FVC), forced expiratory volume in one second (FEV(1)), and the FEV(1)/FVC ratio was determined by spirometry. Using VCap, we measured peripheral oxygen saturation (SpO(2)), respiratory rate (RR), inspiratory time (IT), expiratory time (ET), and the phase III slope normalized by expiratory volume (phase III slope/Ve)., Results: In comparison with control groups, all CF patients presented higher phase III slope/Ve values (p < 0.001) independent of the pulmonary disease stage. The phase III slope/Ve was significantly higher in the 24 patients who presented normal spirometry results (p = 0.018). The Group II patients showed lower FVC, FEV(1), FEV(1)/FVC (p < 0.05), and also lower SpO(2) values (p < 0.001) when compared with Group I patients. In comparison with Control Group II, the Group II patients presented higher RR (p < 0.001), and lower IT and ET values (p < 0.001)., Conclusions: Compared to the controls, all studied CF patients showed an increase in phase III slope/Ve values. VCap identified the heterogeneity of the ventilation distribution in the peripheral airways of CF patients who presented normal spirometry.

Objective: To compare patients with cystic fibrosis and healthy individuals in terms of their functional performance on the six-minute walk test (6MWT)., Methods: A prospective, cross-sectional study involving healthy individuals and patients with cystic fibrosis treated at a referral university hospital in the city of Campinas, Brazil. The 6MWT was administered in accordance with the American Thoracic Society guidelines, and it was repeated after a 30-min rest period. For all of the participants, RR, HR, SpO2, and Borg scale scores were obtained. For the cystic fibrosis patients, nutritional status and spirometric values were determined. Patients with pulmonary exacerbation were excluded. Spearman's correlation coefficient and repeated measures ANOVA were used., Results: The cystic fibrosis group comprised 55 patients, and the control group comprised 185 healthy individuals. The mean ages were 12.2 ± 4.3 and 11.3 ± 4.3 years, respectively. The six-minute walk distance (6MWD) was significantly shorter in the cystic fibrosis group than in the control group for both tests (547.2 ± 80.6 m vs. 610.3 ± 53.4 m for the first and 552.2 ± 82.1 m vs. 616.2 ± 58.0 m for the second; p < 0.0001 for both). The 6MWD correlated with age, weight, and height only in the cystic fibrosis group. During the tests, SpO2 remained stable, whereas HR and RR increased., Conclusions: In our sample, functional performance on the 6MWT was poorer among the cystic fibrosis patients than among the healthy controls in the same age bracket, and we found immediate repetition of the test to be unadvisable.

Objective: To identify associations between genetic polymorphisms (in the MBL2, TGF-beta1 and CD14 genes) and the severity of the lung disease in patients with cystic fibrosis (CF), as well as between the presence of DeltaF508 alleles and lung disease severity in such patients., Methods: This was a cross-sectional cohort study, based on clinical and laboratory data, involving 105 patients with CF treated at a university hospital in the 2005-2006 period. We included 202 healthy blood donors as controls for the determination of TGF-beta1 and CD14 gene polymorphisms. Polymorphisms in the MBL2 and TGF-beta1 genes at codon 10, position +869, were genotyped using the allele-specific PCR technique. The C-159T polymorphism in the CD14 gene was genotyped using PCR and enzymatic digestion., Results: Of the 105 CF patients evaluated, 67 presented with severe lung disease according to the Shwachman score. The MBL2 gene polymorphisms were not associated with disease severity in the CF patients. Analysis of the T869C polymorphism in the TGF-beta1 gene showed an association only between TC heterozygotes and mild pulmonary disease. Although patients presenting the TT genotype of the C159T polymorphism in the CD14 gene predominated, there was no significant difference regarding lung disease severity., Conclusions: There was an association between the TC genotype of the T869C polymorphism (TGF-beta1) and mild pulmonary disease in CF patients. In the CD14 gene, the TT genotype seems to be a risk factor for pulmonary disease but is not a modulator of severity. We found no association between being a DeltaF508 homozygote and presenting severe lung disease.

Objective: To identify the clinical, laboratory and radiographic characteristics of the cystic fibrosis patients under care at Universidade Estadual de Campinas (UNICAMP) in the last decade of the twentieth century, and to investigate the association of these characteristics with genotype and severity of the disease as measured by the Shwachman score., Methods: Descriptive, retrospective and cross-sectional study of the patients assisted at UNICAMP hospital's Cystic Fibrosis Clinic from July 1990 to July 2000., Results: One hundred and four patients were studied; 53.8% male; 93.3% Caucasian; 89.4% presented with respiratory symptoms; 59.6% presented with digestive symptoms; 5.8% had meconium ileus; 4.8% had diabetes. The mean age at onset of symptoms was 3 months, and the mean age at diagnosis was 2 years and 4 months. At diagnosis, 69.9 and 56.6% of the patients had weight and height below 10th percentile, respectively; in 10.6%, sweat chloride was < 60 mEq/l. Staphylococcus aureus was found in 80.2%, Pseudomonas aeruginosa in 76%, and Burkholderia cepacia in 5.2%. DeltaF508 homozygosis was observed in 18.75%, whereas 62.50% of the patients were DeltaF508 heterozygous. A moderate/severe Shwachman score was found in 15.7%. Eighteen patients died in that period (17.3%). The mean age at death was 7 years and 8 months; median survival after diagnosis was 18 years and 4 months. Patients who have at least one DeltaF508 mutation have more frequent alterations in fecal fat levels when compared to patients who do not have this mutation (p < 0.05). There were no differences in any parameter between DeltaF508 homozygous and heterozygous patients., Conclusions: The clinical and laboratory characteristics of the 104 patients studied were similar to the characteristics described for patients in other countries. Exceptions are the higher age at diagnosis and lower survival. Our results support the recommendation for early diagnosis and the need for more treatment opportunities in the population of cystic fibrosis patients.

Objectives: Cystic Fibrosis is an autosomal recessive disease that effects the exocrine glands. These glands, when producing viscous secretions, cause manifestations, mainly respiratory and digestive. One of the studied effects related to the treatment of the disease is the use of aminoglycoside antibiotics and its action in the cells of the organ of the hearing, the cochlea. Aminoglycosides are known to be at risk for the development of sensorioneural hearing loss. The presence of adequate sound stimulation is essential for the maturation of auditory abilities. It is fundamental that the peripheral auditory system is intact, especially in childhood. If there is a reduction in environmental sound stimulation, there may be changes in the patterns of organization of hearing and learning abilities, contributing to language difficulties and changes in Central Auditory Processing. Based on the literature on the disease, no studies were found to evaluate an auditory extension of these patients, from peripheral to central structures, as well as their function and importance in hearing skills. The objective of this study was to analyze peripheral and central hearing of children and adolescents with cystic fibrosis. Methods: A total of 117 from 7 to 21 years old patients were evaluated, 57 of them with cystic fibrosis and 60 of the control group, using pure tone audiometry, high frequency audiometry, transient and product distortion otoacoustic emissions, behavioral evaluation of central auditory processing, brainstem evoked auditory potential and longlatency auditory evoked potential. Results: Children and adolescents with cystic fibrosis presented higher auditory thresholds than the control group in the frequencies of 250, 500, 1000, 2000, 3000, 4000, 6000, 8000, 9000, 10,000, 11,200, 12,500, 14,000 and 16,000 Hz, in addition to presenting reduced amplitudes of transient otoacoustic emissions and product distortion in relation to the control group. Children and adolescents with cystic fibrosis who received aminoglycosides intravenously had higher auditory thresholds in most of the assessed hearing frequencies and reduced amplitudes of product distortion otoacoustic emissions than those who did not use aminoglycosides intravenously. Children and adolescents with cystic fibrosis presented worse performance in the gaps-in-noise test compared to the control group in the evaluation of central auditory processing, which indicates impairment of temporal resolution auditory ability. There was no significant difference in the dichotic digit test, frequency pattern test and synthetic sentence identification test with competitive messages compared to the control group. They also showed increased latency in I and V waves of brainstem auditory evoked potential, as well as an increase in P300 latency in long-latency auditory evoked potential. Conclusions: Children and adolescents with cystic fibrosis presented normal results in the peripheral evaluation of hearing, but with a significant difference in relation to the control group. They presented indicative of impairment in the temporal auditory ability in the Central Auditory Processing and significant differences in the electrophysiological latencies in relation to the control group. Children and adolescents who used aminoglycosides intravenously had significantly worse outcomes in the evaluation of peripheral hearing than those who did not use these medications. [ABSTRACT FROM AUTHOR]