Patient care in cystic fibrosis centers: a real-world analysis in Brazil.

OBJECTIVE: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. METHODS: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. RESULTS: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. CONCLUSIONS: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

Patient care in cystic fibrosis centers: a real-world analysis in Brazil / Assistência ao paciente em centros de fibrose cística: análise do mundo real no Brasil

ABSTRACT Objective: To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. Methods: A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. Results: The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Conclusions: Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

RESUMO Objetivo: Analisar as características dos centros de tratamento de fibrose cística (CTFC) no Brasil. Métodos: Entre maio e setembro de 2021, um questionário foi enviado aos coordenadores de todos os 51 CTFC registrados. Resultados: A taxa de resposta foi de 100%. O Sudeste do Brasil é a região onde está a maioria dos CTFC do país (21 centros; 41%), seguida pelas regiões Sul e Nordeste (11 centros cada; 21,5%), Centro-Oeste (6; 12%) e Norte (2; 4%). No total, 4.371 pacientes com fibrose cística (FC) foram atendidos no Brasil durante o período do estudo, variando de 7 a 240 pacientes por centro (média de 86 pacientes/centro; mediana de 75 pacientes/centro); 2.197 pacientes (50%) foram atendidos em centros da região Sudeste, particularmente no estado de São Paulo (33%), e os demais receberam atendimento nas regiões Sul (1.014 pacientes, 23%), Nordeste (665 pacientes, 15%), Centro-Oeste (354 pacientes, 8%) e Norte (141 pacientes, 4%). Do total de CTFC, 47 (92%) relataram que a equipe multidisciplinar estava incompleta; em 4 centros (8%), as equipes multidisciplinares careciam de membros essenciais; 6 centros (12%) careciam de fisioterapeuta; 5 (10%) careciam de dietista; 17 (33%) careciam de cuidados ambulatoriais de enfermagem; 13 (25%) careciam de serviços ambulatoriais de assistência social; 14 (27%) careciam de psicólogo e 32 (63%) careciam de farmacêutico clínico. Sete CTFC (14%) nas regiões Norte e Nordeste relataram que a qualidade da triagem neonatal de FC era ruim. Todos os centros relataram dificuldades de acesso a medicamentos para FC. Conclusões: Os CTFC brasileiros enfrentam múltiplos problemas: pessoal inadequado, infraestrutura inadequada, testes inadequados e fornecimento inadequado de medicamentos. Há uma necessidade urgente de regulamentar a implantação de centros de referência em FC e de uma rede adequada para o diagnóstico e acompanhamento de pacientes com FC com base nas recomendações para o tratamento ideal da doença.

Systemic oxidative stress in children with cystic fibrosis with bacterial infection including Pseudomonas Aeruginosa.

INTRODUCTION: Oxidative stress (OS) occurs in cystic fibrosis (CF). OBJECTIVE: The objective of this work is to evaluate the influence of bacterial infection on biomarkers of OS (catalase [CAT], glutathione peroxidade [GPx], reduced glutathione [GSH]), markers of oxidative damage (protein carbonyls [PC], thiobarbituric acid reactive substances [TBARS]), together with the nutritional status and lung function in children with CF. METHODS: Cross-sectional study including CF group (CFG, n = 55) and control group (CG, n = 31), median age: 3.89 and 4.62 years, respectively. CFG was distributed into CFG negative bacteriology (CFGB-, n = 27) or CFG positive bacteriology (CFGB+, n = 28), and CFG negative Pseudomonas aeruginosa (CFGPa-, n = 36) or CFG positive Pseudomonas aeruginosa (CFGPa+, n = 19). RESULTS: Compared with CG, CFG (P = .034) and CFGB+ (P = .042) had lower body mass index-for-age z-score; forced expiratory volume in the first second was lower in CFGB+ and CFGPa+ (both P < .001). After adjusting for confounders and compared with CG: CFG showed higher TBARS (P ≤ .001) and PC (P = .048), and lower CAT (P = .004) and GPx (P = .003); the increase in PC levels was observed in CFGB+ (P = .011) and CFGPa+ (P = .001) but not in CFGB- (P = .510) and CFGPa- (P = .460). CONCLUSIONS: These results indicate a systemic OS in children with CF. The presence of bacterial infection particularly Pseudomonas aeruginosa seems to be determinant to exacerbate the oxidative damage to proteins, in which PC may be a useful biomarker of OS in CF.

Immediate effect of inhalation therapy combined with oscillatory positive expiratory pressure on the respiratory system of children with cystic fibrosis.

INTRODUCTION: It is recommended the association of inhalation therapies and physiotherapy on the management of cystic fibrosis (CF); however, it is still necessary to understand the effect on respiratory mechanics of these therapies combined. This study aimed to evaluate the immediate effect of inhalation with Dornase-Alfa (DNase) and hypertonic saline solution (HSS), as well as the impact of these inhalation therapies associated with an oral high-frequency oscillation (OHFO) physiotherapy device, on the respiratory mechanics of children and adolescents with CF. METHOD: Children/adolescents with CF were allocated into two groups (DNaseG and HSSG), where they performed inhalation therapy before using the OHFO device for physiotherapy. In each group, the Impulse Oscillometry System was conducted before and after inhalation therapy, and after OHFO. ANOVA was carried out to analyse the respiratory mechanics at different moments of DNaseG and HSSG. The Mann-Whitney test compared the immediate effect of each inhalation therapy and after OHFO. RESULTS: 30 children (6-14 years old) were studied. In DNaseG, the mean value of most oscillometric parameters decreased in the evaluated moments; in HSSG, only reactance showed an immediate increase. CONCLUSION: Children/adolescents with CF showed an immediate decrease in airway resistance and reactance after the use of DNase and associated with OHFO, indicating improvement. The inhalation with HSS has an immediate effect on peripheral airways.

Pediatric Glittre ADL-test in cystic fibrosis: Physiological parameters and respiratory mechanics.

Background: To evaluate the functional capacity in children and adolescents with cystic fibrosis (CF) through the pediatric Glittre ADL-test (TGlittre-P) and its implications for respiratory mechanics, physiological parameters and clinical markers. Methods: Impulse oscillometry system (IOS) parameters, vital signs (heart rate, respiratory rate and blood pressure), perception of dyspnea and peripheral oxygen saturation (SpO2) were assessed before and immediately after the TGlittre-P. Test performance was correlated with age, quality of life, disease severity, nutrition, spirometry and IOS parameters. Results: Twenty-six patients were included thirteen boys, mean age of 9.54 ± 1.94 and FEV1 of 71.45%±22.67%. The mean time to complete the test was 2.94 min, similar to that predicted for healthy children. There was a correlation of time with age, as well as with some IOS parameters. Disease severity, spirometric parameters, nutritional aspects and quality of life (QoL) were correlated with performance in the TGlittre-P. Immediate increase of vital signs and decline in SpO2 were observed after the test, without an impact on IOS parameters. Conclusion: Patients with CF showed similar performance and changes of vital signs at the TGlittre-P compared to reference values for healthy children. There were no immediate changes in parameters for the assessed respiratory mechanics. Also, there was no correlation of time to complete the TGLittre-P test with respiratory mechanics, physiological parameters and clinical markers.

Altered intestinal microbiota composition, antibiotic therapy and intestinal inflammation in children and adolescents with cystic fibrosis.

The aim of the present study was to evaluate the effect of cystic fibrosis and antibiotic therapy on intestinal microbiota composition and intestinal inflammation in children and adolescents. A cross-sectional controlled study was conducted with 36 children and adolescents: 19 in the cystic fibrosis group (CFG) and 17 in the control group (CG) matched for age and sex. The CFG was subdivided based on the use of antibiotic therapy (CFAB group) and non-use of antibiotic therapy (CFnAB group). The following data were evaluated: colonization, antibiotic therapy, mutation, breastfeeding, use of infant formula, type of delivery, introduction of solid foods, body mass index, fecal calprotectin and intestinal microbiota composition (fluorescence in situ hybridization). Intestinal inflammation evaluated by fecal calprotectin was significantly higher in the CFG (median: 40.80 µg/g, IQR: 19.80-87.10, p = 0.040) and CFAB group (median: 62.95 µg/g, IQR: 21.80-136.62, p = 0.045) compared to the CG (median: 20.15 µg/g, IQR: 16.20-31.00), and the Bacteroides, Firmicutes, Eubacterium rectale and Faecalibacterium prausnitzii were significantly decreased (p < 0.05) in the CFG compared to the CG, whereas the bacteria Clostridium difficile, Escherichia coli and Pseudomonas aeruginosa were significantly increased in the CFG (p < 0.05). The main differences were found between the CG and CFAB group for Eubacterium rectale (p = 0.006), Bifidobacterium (p = 0.017), Escherichia coli (p = 0.030), Firmicutes (p = 0.002), Pseudomonas aeruginosa (p < 0.001) and Clostridium difficile (p = 0.006). The results of this study confirm intestinal inflammation in patients with CF, which may be related to changes in the composition of the intestinal microbiota.

Associação do estado nutricional com função pulmonar e morbidade em crianças e adolescentes com fibrose cística: coorte de 36 meses / Association of nutritional status with lung function and morbidity in children and adolescents with cystic fibrosis: a 36-month cohort study

RESUMO Objetivo: Avaliar a associação entre estado nutricional, função pulmonar e morbidade em coorte de 36 meses de crianças e adolescentes com fibrose cística (FC). Métodos: Coorte prospectiva de 36 meses, com crianças e adolescentes com FC e idade entre 1 e 15 anos. No tempo inicial, o estado nutricional foi determinado a partir dos indicadores: peso-para-estatura e índice de massa corporal-para-idade, para crianças <2 anos e ≥2 anos, respectivamente, e classificado em: falência nutricional, risco nutricional e estado nutricional aceitável; também foi determinado por meio do percentil 50°, de acordo com a curva de crescimento da World Health Organization (WHO). A função pulmonar foi avaliada pelo volume expiratório forçado no primeiro segundo (VEF1). A morbidade foi determinada pela presença de infecção e hospitalização por exacerbação pulmonar. Foi calculado risco relativo (RR) e intervalo de confiança (IC95%), considerando significante p<0,05. Resultados: Foram avaliadas 38 crianças e adolescentes (mediana de idade 3,8 anos). Os pacientes classificados em falência nutricional no início do estudo mostraram um RR de 5,00 (IC95% 1,49; 16,76) para o comprometimento da função pulmonar após 36 meses. Aqueles classificados abaixo do percentil 50° apresentaram RR de 4,61 (IC95% 0,89; 23,81) para o desfecho. O estado nutricional não foi fator de risco para morbidade. Conclusões: O déficit nutricional esteve associado ao comprometimento da função pulmonar, mas não com a morbidade em crianças e adolescentes com FC.

ABSTRACT Objective: To evaluate the association between nutritional status, lung function and morbidity in a 36-month cohort in children and adolescents with cystic fibrosis. Methods: Prospective cohort of children and adolescents with cystic fibrosis aged 1-15 years. At the baseline, the nutritional status was determined by weight-for-height and body mass index-for-age for children <2 years and ≥2 years, respectively, and classified as: nutritional failure, nutritional risk and acceptable; and by the 50th percentile, according to the World Health Organization (WHO) growth charts. Lung function was assessed by forced expiratory volume in one second (FEV1). Morbidity was determined by the presence of infection and hospitalization by pulmonary exacerbation. Risk ratio and 95% confidence interval (95%CI) were calculated, being significant when p<0.05. Results: We evaluated 38 children and adolescents (median age 3.8 years). Patients that were classified as having nutritional failure at baseline had a RR of 5.00 (95%CI 1.49; 16.76) to present impaired lung function after 36 months. Those classified bellow the 50th percentile had a RR of 4.61 (95%CI 0.89; 23.81) to present the same outcome. Nutritional status was not a risk factor for morbidity in this cohort. Conclusions: Nutritional deficit was associated with impaired lung function, but not with morbidity in children and adolescents with cystic fibrosis.

ASSOCIATION OF NUTRITIONAL STATUS WITH LUNG FUNCTION AND MORBIDITY IN CHILDREN AND ADOLESCENTS WITH CYSTIC FIBROSIS: A 36-MONTH COHORT STUDY. / ASSOCIAÇÃO DO ESTADO NUTRICIONAL COM FUNÇÃO PULMONAR E MORBIDADE EM CRIANÇAS E ADOLESCENTES COM FIBROSE CÍSTICA: COORTE DE 36 MESES.

OBJECTIVE: To evaluate the association between nutritional status, lung function and morbidity in a 36-month cohort in children and adolescents with cystic fibrosis. METHODS: Prospective cohort of children and adolescents with cystic fibrosis aged 1-15 years. At the baseline, the nutritional status was determined by weight-for-height and body mass index-for-age for children <2 years and ≥2 years, respectively, and classified as: nutritional failure, nutritional risk and acceptable; and by the 50th percentile, according to the World Health Organization (WHO) growth charts. Lung function was assessed by forced expiratory volume in one second (FEV1). Morbidity was determined by the presence of infection and hospitalization by pulmonary exacerbation. Risk ratio and 95% confidence interval (95%CI) were calculated, being significant when p<0.05. RESULTS: We evaluated 38 children and adolescents (median age 3.8 years). Patients that were classified as having nutritional failure at baseline had a RR of 5.00 (95%CI 1.49; 16.76) to present impaired lung function after 36 months. Those classified bellow the 50th percentile had a RR of 4.61 (95%CI 0.89; 23.81) to present the same outcome. Nutritional status was not a risk factor for morbidity in this cohort. CONCLUSIONS: Nutritional deficit was associated with impaired lung function, but not with morbidity in children and adolescents with cystic fibrosis.

OBJETIVO: Avaliar a associação entre estado nutricional, função pulmonar e morbidade em coorte de 36 meses de crianças e adolescentes com fibrose cística (FC). MÉTODOS: Coorte prospectiva de 36 meses, com crianças e adolescentes com FC e idade entre 1 e 15 anos. No tempo inicial, o estado nutricional foi determinado a partir dos indicadores: peso-para-estatura e índice de massa corporal-para-idade, para crianças <2 anos e ≥2 anos, respectivamente, e classificado em: falência nutricional, risco nutricional e estado nutricional aceitável; também foi determinado por meio do percentil 50°, de acordo com a curva de crescimento da World Health Organization (WHO). A função pulmonar foi avaliada pelo volume expiratório forçado no primeiro segundo (VEF1). A morbidade foi determinada pela presença de infecção e hospitalização por exacerbação pulmonar. Foi calculado risco relativo (RR) e intervalo de confiança (IC95%), considerando significante p<0,05. RESULTADOS: Foram avaliadas 38 crianças e adolescentes (mediana de idade 3,8 anos). Os pacientes classificados em falência nutricional no início do estudo mostraram um RR de 5,00 (IC95% 1,49; 16,76) para o comprometimento da função pulmonar após 36 meses. Aqueles classificados abaixo do percentil 50° apresentaram RR de 4,61 (IC95% 0,89; 23,81) para o desfecho. O estado nutricional não foi fator de risco para morbidade. CONCLUSÕES: O déficit nutricional esteve associado ao comprometimento da função pulmonar, mas não com a morbidade em crianças e adolescentes com FC.

C-reactive protein/albumin ratio is associated with lung function among children/adolescents with cystic fibrosis: a three-year longitudinal study

ABSTRACT BACKGROUND: Chronic lung infections, inflammation and depletion of nutritional status are considered to be prognostic indicators of morbidity in patients with cystic fibrosis. The aim of this study was to investigate the association between inflammatory markers and lung function, nutritional status and morbidity among children/adolescents with cystic fibrosis. DESIGN AND SETTINGS: Prospective three-year longitudinal study conducted in an outpatient clinic in southern Brazil. METHODS: Children/adolescents aged 1-15 years with cystic fibrosis were enrolled. Nutritional status was determined from weight-to-length and body mass index-to-age z-scores and was classified as acceptable, at risk or nutritional failure. Tumor necrosis factor-α, interleukin-1β, myeloperoxidase, C-reactive protein and C-reactive protein/albumin ratio were analyzed. Lung function was evaluated based on the forced expiratory volume in the first second and morbidity according to the number of hospitalizations for pulmonary exacerbation and infections by Pseudomonas aeruginosa. Lung function, nutritional status and morbidity were the outcomes. Odds ratios and 95% confidence intervals were to evaluate the effect of baseline inflammatory markers on the clinical outcomes after three years of follow-up and p-values < 0.05 were considered significant. RESULTS: We evaluated 38 children/adolescents with cystic fibrosis: 55% female; median age (with interquartile range), 3.75 years (2.71-7.00). Children/adolescents with high C-reactive protein/albumin ratio at baseline had odds of 18 (P = 0.018) of presenting forced expiratory volume in the first second ≤ 70% after three years. The other inflammatory markers were not associated with the outcomes. CONCLUSION: C-reactive protein/albumin ratio was associated with forced expiratory volume in the first second ≤ 70% after three years.

Effect of synbiotic supplementation in children and adolescents with cystic fibrosis: a randomized controlled clinical trial.

BACKGROUND/OBJECTIVES: Cystic fibrosis (CF) is characterized by excessive activation of immune processes. The aim of this study was to evaluate the effect of synbiotic supplementation on the inflammatory response in children/adolescents with CF. SUBJECTS/METHODS: A randomized, placebo-controlled, double-blind, clinical-trial was conducted with control group (CG, n = 17), placebo-CF-group (PCFG, n = 19), synbiotic CF-group (SCFG, n = 22), PCFG negative (n = 8) and positive (n = 11) bacteriology, and SCFG negative (n = 12) and positive (n = 10) bacteriology. Markers of lung function (FEV1), nutritional status [body mass index-for age (BMI/A), height-for-age (H/A), weight-for-age (W/A), upper-arm fat area (UFA), upper-arm muscle area (UMA), body fat (%BF)], and inflammation [interleukin (IL)-12, tumor necrosis factor-alpha (TNF-α), IL-10, IL-6, IL-1ß, IL-8, myeloperoxidase (MPO), nitric oxide metabolites (NOx)] were evaluated before and after 90-day of supplementation with a synbiotic. RESULTS: No significance difference was found between the baseline and end evaluations of FEV1 and nutricional status markers. A significant interaction (time vs. group) was found for IL-12 (p = 0.010) and myeloperoxidase (p = 0.036) between PCFG and SCFG, however, the difference was not maintained after assessing the groups individually. NOx diminished significantly after supplementation in the SCFG (p = 0.030). In the SCFG with positive bacteriology, reductions were found in IL-6 (p = 0.033) and IL-8 (p = 0.009) after supplementation. CONCLUSIONS: Synbiotic supplementation shown promise at diminishing the pro-inflammatory markers IL-6, IL-8 in the SCFG with positive bacteriology and NOx in the SCFG in children/adolescents with CF.

C-reactive protein/albumin ratio is associated with lung function among children/adolescents with cystic fibrosis: a three-year longitudinal study.

BACKGROUND: Chronic lung infections, inflammation and depletion of nutritional status are considered to be prognostic indicators of morbidity in patients with cystic fibrosis. The aim of this study was to investigate the association between inflammatory markers and lung function, nutritional status and morbidity among children/adolescents with cystic fibrosis. DESIGN AND SETTINGS: Prospective three-year longitudinal study conducted in an outpatient clinic in southern Brazil. METHODS: Children/adolescents aged 1-15 years with cystic fibrosis were enrolled. Nutritional status was determined from weight-to-length and body mass index-to-age z-scores and was classified as acceptable, at risk or nutritional failure. Tumor necrosis factor-α, interleukin-1ß, myeloperoxidase, C-reactive protein and C-reactive protein/albumin ratio were analyzed. Lung function was evaluated based on the forced expiratory volume in the first second and morbidity according to the number of hospitalizations for pulmonary exacerbation and infections by Pseudomonas aeruginosa. Lung function, nutritional status and morbidity were the outcomes. Odds ratios and 95% confidence intervals were to evaluate the effect of baseline inflammatory markers on the clinical outcomes after three years of follow-up and p-values < 0.05 were considered significant. RESULTS: We evaluated 38 children/adolescents with cystic fibrosis: 55% female; median age (with interquartile range), 3.75 years (2.71-7.00). Children/adolescents with high C-reactive protein/albumin ratio at baseline had odds of 18 (P = 0.018) of presenting forced expiratory volume in the first second ≤ 70% after three years. The other inflammatory markers were not associated with the outcomes. CONCLUSION: C-reactive protein/albumin ratio was associated with forced expiratory volume in the first second ≤ 70% after three years.

Brazilian guidelines for the diagnosis and treatment of cystic fibrosis.

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.

Brazilian guidelines for the diagnosis and treatment of cystic fibrosis / Diretrizes brasileiras de diagnóstico e tratamento da fibrose cística

ABSTRACT 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.

Nutrition Status Parameters and Hydration Status by Bioelectrical Impedance Vector Analysis Were Associated With Lung Function Impairment in Children and Adolescents With Cystic Fibrosis.

BACKGROUND: (1) To compare nutrition and hydration status between a group of children/adolescents with cystic fibrosis (CFG; n = 46; median age, 8.5 years) and a control group without cystic fibrosis (CG). (2) To examine the association of nutrition and hydration status with lung function in the CFG. MATERIAL AND METHODS: A cross-sectional study. Nutrition screening, anthropometric parameters, and bioelectrical impedance analysis (BIA) were assessed. The z scores for body mass index for age, height for age, mid upper arm circumference, triceps and subscapular skinfold thickness, mid upper arm muscle area, resistance/height, and reactance/height were calculated. Bioelectrical impedance vector analysis was conducted. Forced expiratory volume in 1 second <80% was considered lung function impairment. An adjusted logistic regression was applied (P < .05). RESULTS: In the CFG, lung function impairment was observed in 51.1%. All anthropometric parameters were lower, and the mean z-resistance/height and z-reactance/height were higher in the CFG (P < .05) compared with the CG. In the CFG, 43% were severely/mildly dehydrated, while none were in the CG (P = .007). In the CFG, there was an association between high nutrition risk-via nutrition screening (odds ratio [OR], 22.28; P < .05), lower values of anthropometric parameters, higher z-resistance/height (OR, 2.23; P < .05) and z-reactance/height (OR, 1.81; P < .05), and dehydration (OR, 4.94; P < .05)-and lung function impairment. CONCLUSIONS: The CFG exhibited a compromised nutrition status assessed by anthropometric and BIA parameters. Nutrition screening, anthropometric and BIA parameters, and hydration status were associated with lung function.

Influence of inflammatory response, infection, and pulmonary function in cystic fibrosis.

AIMS: Recurrent infections and activation of the inflammatory response affect the prognosis of cystic fibrosis (CF). We investigated the relationship between inflammatory response, infection, and pulmonary function in CF. MAIN METHODS: A clinical-cross-sectional study was conducted with 86 subjects: control group (CG, n=31, the same age and sex of the CF group), and CF group (CFG, n=55, age: 1-16 years), further distributed into CFG negative or positive bacteriology (CFGB(-)/CFGB(+)), and CFG negative or positive Pseudomonas aeruginosa (CFGPa(-)/CFGPa(+)). Using the Wald test, multiple linear regression (95% confidence interval) was performed between CG and CFG, and between CG and each of the CF subgroups (CFGB(-)/CFGB(+) and CFGPa(-)/CFGPa(+)). The inflammatory markers evaluated were myeloperoxidase (MPO), adenosine deaminase (ADA) activities, interleukin-1beta (IL-1ß), tumor necrosis factor-alpha (TNF-α), C-reactive protein (CRP), nitric oxide metabolites (NOx) levels, and total and differential leukocyte counts. KEY FINDINGS: After adjusting for sex and age, CFG compared to CG revealed an increase of MPO, IL-1ß (P<0.001 in all subgroups), and CRP: CFG (P=0.002), CFGB(-) (P=0.007), CFGB(+) (P=0.009), CFGPa(-) (P=0.004) and CFGPa(+) (P=0.020). NOx (P=0.001, P<0.001), leukocytes (P=0.002, P=0.001), and neutrophils (P=0.003, P<0.001) were increased in CFGB(+) and CFGPa(+), respectively. A negative correlation between FEV1 and leukocytes (P=0.008) and FEV1 and neutrophils (P=0.031) resulted in CFG. SIGNIFICANCE: The inflammatory response characterized by the increase of MPO, IL-1ß, and CRP is determinant for CF. Also leukocytosis due to neutrophilia determines the pulmonary function deficiency in this disease.

Fibrose cistica em Santa catarina: perfil clinico dos pacientes / Cystic fibrosis in Santa Catarina: a clinical profile of patients

Vinte e uma criancas com Fibrose Cistica (FC) foram acompanhadas por pneumologista pediatrico no ambulatorio ou internadas no Hospital Infantil Joana de Gusmao (HIJG) no ano de 1992. Foi instituido um protocolo em que investigamos dados referentes a sexo, idade, parentes com FC, exames laboratoriais confirmatorios da doenca, grau de comprometimento pulmonar e pancreatico. Nosso objetivo foi tracar um perfil dos pacientes com FC em Santa Catarina (SC). Encontramos um predominio do sexo masculino, sendo que os primeiros sintomas ocorreram em media no primeiro ano de vida e a idade media ao diagnostico foi de 3,7 anos.A metade dos pacientes com FC tinham irmaos ou parentes com FC. O comprometimento em 70 por cento dos casos e 95 por cento de todos os pacientes apresentavam algum grau de envolvimento pulmonar. As bacterias mais encontradas na cultura do escarro foram Pseudomonas aeruginosa e o Staphylococos aureus. Nao houve obitos.

Fibrose cistica em Santa Catarina: a equipe multidisciplinar / Cystic fibrosis in Santa Catarina: a multidisciplinary team

Os autores descrevem a organizacao e operacionalizacao do atendimento multiprofissional ao paciente com mucoviscidose. Relatam a conduta dos profissionais nass areas afins e salientam o valor da abordagem global do paciente pela equipe familiarizada com a doenca, possibilitando uma acao terapeutica mais adequada e completa...

Doença de Bowen da regiäo perianal: análise de três casos

Os autores relatam três casos de Doença de Bowen, de localizaçäo perianal, sendo que dois apresentaram também lesöes vulvares e haviam sido submetidos anteriormente a vulvectomia simples por CARCINOMA "IN SITU". As lesöes perianais evoluiram assintomaticamente e uma vez estabelecida a suspeita diagnóstica, foram excisadas e submetidas a exame histopatológico que confirmou a natureza neoplásica das mesmas. Foram analisados o quadro clínico, etiologia, diagnóstico, diagnóstico diferencial e tratamento, comparando-os com os da literatura

Avaliaçäo de broncoscopia em pacientes pediátricos / Evaluation of bronchoscopy in pediatric patients

Foram realizadas sessenta e cinco broncoscopias em pacientes pediátricos com afecçöes nas vias respiratórias, utilizando broncoscópios flexíveis ou rígidos conforme a indicaçäo. As indicaçöes mais freqüentes foram para pneumonia recorrente e atelectasia; e os diagnósticos finais auxiliados pela história clínica, exames radiológicos e outros exames complementares foram de atelectasia e bronquectasia. Diagnósticos importantes do ponto de vista terapêutico foram realizados pelo exame broncoscópico, como o achado de vegetaçäo tuberculosa endobrônquica em duas crianças, confirmadas pela biópsia e lavado brônquico; corpo estranho näo suspeitado inicialmente e que a clínica consistia de sibilos persistentes sem resposta a terapêutica broncodilatadora habitual; em um paciente foi feito diagnóstico de hemossiderose pulmonar pela biópsia transbrônquica. A broncoscopia foi utilizada também para fins terapêuticos, como a broncoaspiraçäo em pacientes com abundante secreçäo traqueobronquica ou com atelectasia e remoçäo de corpos estranhos

Infecçäo tuberculosa e sensibilidade tuberculínica pós-vacinal do BCG em 717 escolares do município de Florianópolis, Santa Catarina / Tuberculosis infection and tuberculin sensivity, post BCG vaccination, in 717 school children of the municipality of Florianópolis, Santa Catarina

De Maio a Novembro de l985, foram realizados testes tuberculínicos em 812 escolares de 7 a 14 anos, de três estabelecimentos de ensino de Florianópolis, dos quais foram aproveitadas 717 crianças que cumpriram todas as etapas do trabalho. Os reatores fortes näo vacinados anteriormente foram considerados infectados pelo bacilo da tuberculose. Os näo reatores, näo vacinados anteriormente foram vacinados com vacina BCG intradérmico. Foi utilizada a própria vacina BCG no diagnóstico da infecçäo tuberculosa (BCG teste), sendo consideradas crianças infectadas as que apresentaram induraçäo vacinal acima de 5mm até 72 horas após a aplicaçäo da vacina. Dez semanas após a aplicaçäo da vacina foi realizado novo teste tuberculínico, quando foi avaliada a viragem tuberculínica pós facinal. Foi correlato também o grau nutricional, e o índice de infecçäo tuberculosa