The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma.

OBJECTIVE: To determine whether polymorphisms of the IL10 and IL17 genes are associated with severe asthma control and bronchodilator reversibility in children and adolescents with severe asthma. METHODS: This was a cross-sectional study, nested within a prospective cohort study of patients with severe asthma. Two outcomes were evaluated: asthma control and bronchodilator reversibility. We extracted DNA from peripheral blood and genotyped three single nucleotide polymorphisms: rs3819024 and rs2275913 in the IL17A gene; and rs3024498 in the IL10 gene. For the association analyses, we performed logistic regression in three genetic models (allelic, additive, and dominant). RESULTS: The rs3024498 C allele in the IL10 gene was associated with failure to achieve asthma control despite regular treatment (p = 0.02). However, the G allele of the IL17A rs3819024 polymorphism was associated with failure to respond to stimulation with a b2 agonist. The rs2275913 polymorphism of the IL17A gene showed no relationship with asthma control or bronchodilator reversibility. CONCLUSIONS: In pediatric patients with severe asthma, the IL10 polymorphism appears to be associated with failure to achieve clinical control, whereas the IL17A polymorphism appears to be associated with a worse bronchodilator response. Knowledge of the involvement of these polymorphisms opens future directions for pharmacogenetic studies and for the implementation of individualized therapeutic management of severe asthma in pediatric patients.

The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma / O papel de polimorfismos dos genes IL10 e IL17 na resposta ao tratamento em crianças e adolescentes com asma grave

ABSTRACT Objective: To determine whether polymorphisms of the IL10 and IL17 genes are associated with severe asthma control and bronchodilator reversibility in children and adolescents with severe asthma. Methods: This was a cross-sectional study, nested within a prospective cohort study of patients with severe asthma. Two outcomes were evaluated: asthma control and bronchodilator reversibility. We extracted DNA from peripheral blood and genotyped three single nucleotide polymorphisms: rs3819024 and rs2275913 in the IL17A gene; and rs3024498 in the IL10 gene. For the association analyses, we performed logistic regression in three genetic models (allelic, additive, and dominant). Results: The rs3024498 C allele in the IL10 gene was associated with failure to achieve asthma control despite regular treatment (p = 0.02). However, the G allele of the IL17A rs3819024 polymorphism was associated with failure to respond to stimulation with a b2 agonist. The rs2275913 polymorphism of the IL17A gene showed no relationship with asthma control or bronchodilator reversibility. Conclusions: In pediatric patients with severe asthma, the IL10 polymorphism appears to be associated with failure to achieve clinical control, whereas the IL17A polymorphism appears to be associated with a worse bronchodilator response. Knowledge of the involvement of these polymorphisms opens future directions for pharmacogenetic studies and for the implementation of individualized therapeutic management of severe asthma in pediatric patients.

RESUMO Objetivo: Determinar se existe relação entre polimorfismos dos genes IL10 e IL17 e controle da asma grave e reversibilidade com broncodilatador em crianças e adolescentes com asma grave. Métodos: Estudo transversal, aninhado em um estudo prospectivo de coorte com pacientes com asma grave. Foram avaliados dois desfechos: controle da asma e reversibilidade com broncodilatador. Extraímos DNA do sangue periférico e genotipamos três polimorfismos de nucleotídeo único: rs3819024 e rs2275913 no gene IL17A e rs3024498 no gene IL10. Para as análises de associação, realizamos regressão logística em três modelos genéticos (alélico, aditivo e dominante). Resultados: O alelo C do polimorfismo rs3024498 do gene IL10 apresentou relação com asma que permaneceu descontrolada mesmo com tratamento regular (p = 0,02). No entanto, o alelo G do polimorfismo rs3819024 do gene IL17A apresentou relação com ausência de resposta ao estímulo com b2-agonista. O polimorfismo rs2275913 do gene IL17A não apresentou relação com controle da asma ou reversibilidade com broncodilatador. Conclusões: Em pacientes pediátricos com asma grave, o polimorfismo do gene IL10 parece estar relacionado com ausência de controle clínico, ao passo que o polimorfismo do gene IL17A parece estar relacionado com pior resposta ao broncodilatador. O conhecimento a respeito do envolvimento desses polimorfismos abre perspectivas futuras para estudos farmacogenéticos e para a implantação de manejo terapêutico individualizado da asma grave em pacientes pediátricos.

High and low-fidelity simulation for respiratory diseases pediatric training: a prospective and randomized study

Abstract Objective: To compare high and low-fidelity simulations for the recognition of respiratory distress and failure in urgency and emergency pediatric scenarios. Methods: 70 fourth-year medical students were randomly distributed in high and low-fidelity groups and simulated different types of respiratory problems. Theory tests, performance checklists, and satisfaction and self-confidence questionnaires were used in the assessment. Face-to-face simulation and memory retention was applied. The statistics were evaluated by averages and quartiles, Kappa, and generalized estimating equations. The p-value was considered 0.05. Results: In the theory test there was an increase in scores in both methodologies (p < 0.001 ); in memory retention (p = 0.043) and at the end of the process the high-fidelity group had better results. The performance in the practical checklists was better after the second simulation (p > 0,05). The high-fidelity group felt more challenged in both phases (p = 0.042; p = 0.018) and showed greater self-confidence to recognize changes in clinical conditions and in memory retention (p = 0.050). The same group, in relation to the hypothetical real patient to be treated in the future, felt better confident to recognize respiratory distress and failure (p = 0.008; p = 0.004), and better prepared to make a systematic clinical evaluation of the patient in memory retention (p = 0.016). Conclusion: The two levels of simulations enhance diagnostic skills. High fidelity improves knowledge, leads the student to feel more challenged and more self-confident in recognizing the severity of the clinical case, including memory retention, and showed benefits regarding self-confidence in recognizing respiratory distress and failure in pediatric cases.

Use of home visits in pediatric severe asthma: randomized controlled trial.

OBJECTIVE: To evaluate the effectiveness of home visits in a group of children and adolescents with severe asthma by using the inhalation technique score and adherence rates to drug treatment. METHOD: A 12-month randomized controlled trial involving patients aged between three and 17 years under regular follow-up treatment at a pediatric pulmonology outpatient clinic of a university hospital in southeastern Brazil. A group of patients received only outpatient consultations and the other group received home visits from nurses in addition to outpatient consultations. The differences between groups were analyzed through the outcomes of inhalation technique scores and treatment adherence rate. RESULTS: Participation of 29 patients. In the intervention group, there was a statistically significant increase in inhalation technique scores (p<0.05) and elimination of critical errors between the first and the second evaluation, and results were maintained in the third evaluation. In the control group, there were no significant changes in inhalation technique scores. Rates of adherence to drug treatment in both groups did not rise. CONCLUSION: Home visits were effective for improving inhalation technique scores in patients with severe asthma. Brazilian Registry of Clinical Trials: RBR-8GZWZP.

Asthma mortality in children and adolescents of Brazil over a 20-year period.

OBJECTIVE: To evaluate the number of asthma deaths and the temporal trend of the asthma-specific mortality rate in children and adolescents up to 19 years of age in Brazil. METHODS: This is an ecological time-series study of asthma deaths reported in Brazil, in the population up to 19 years of age, between 1996 and 2015. The specific asthma mortality rate and its temporal trend were analyzed. RESULTS: There were 5014 deaths during the 20 years evaluated, with the majority, 68.1%, being recorded in children under 5 years of age. The specific asthma mortality rate ranged from 0.57/100,000 in 1997 to 0.21/100,000 in 2014, with a significant reduction of 59.8%. Regarding the place of death, 79.4% occurred in a hospital setting. In this sample, the adolescents had a 1.5-fold higher chance of death out-of-hospital than children up to nine years of age. There was no significant difference in the temporal trend between the genders and no significant decrease in out-of-hospital deaths. CONCLUSIONS: This study found a temporal trend for a reduction in asthma deaths over 20 years in children and adolescents in Brazil. Mortality rates varied across the geographic regions of the country and were higher in the Northeast. The prevalence of deaths under 5 years of age may be associated with the greater vulnerability of this age group in low-income countries. In adolescence, deaths outside the hospital environment are noteworthy. Asthma deaths are rare but unacceptable events, considering the treatable nature of the disease and the presence of avoidable factors in most of fatal outcomes.

Use of home visits in pediatric severe asthma: randomized controlled trial* / El empleo de la visita domiciliaria en el asma severa pediátrica: estudio experimental randomizado controlado / O uso da visita domiciliar na asma grave pediátrica: estudo experimental randomizado controlado*

Abstract Objective: To evaluate the effectiveness of home visits in a group of children and adolescents with severe asthma by using the inhalation technique score and adherence rates to drug treatment. Method: A 12-month randomized controlled trial involving patients aged between three and 17 years under regular follow-up treatment at a pediatric pulmonology outpatient clinic of a university hospital in southeastern Brazil. A group of patients received only outpatient consultations and the other group received home visits from nurses in addition to outpatient consultations. The differences between groups were analyzed through the outcomes of inhalation technique scores and treatment adherence rate. Results: Participation of 29 patients. In the intervention group, there was a statistically significant increase in inhalation technique scores (p<0.05) and elimination of critical errors between the first and the second evaluation, and results were maintained in the third evaluation. In the control group, there were no significant changes in inhalation technique scores. Rates of adherence to drug treatment in both groups did not rise. Conclusion: Home visits were effective for improving inhalation technique scores in patients with severe asthma. Brazilian Registry of Clinical Trials: RBR-8GZWZP.

Resumen Objetivo: Evaluar la efectividad de la visita domiciliaria en un grupo de niños y adolescentes con asma severa, utilizando el score de la técnica inhalatoria y las tasas de adhesión al tratamiento medicamentoso. Método: Estudio experimental randomizado controlado, con duración de 12 meses, que incluyó a pacientes con edades entre tres y 17 años, acompañados regularmente en un ambulatorio de neumología pediátrica de un hospital universitario de la región Sureste de Brasil. Un grupo de pacientes recibió solo consultas ambulatorias y el otro grupo, además de las consultas ambulatorias, recibió visitas de la enfermera en el hogar. Fueron analizadas las diferencias entre los grupos en los resultados: scores de la técnica inhalatoria y tasa de adhesión al tratamiento. Resultados: Participaron 29 pacientes. En el grupo intervención, hubo aumento estadísticamente significativo de los scores de la técnica inhalatoria (p<0,05) y eliminación de errores críticos de la primera a la segunda evaluación, resultados que se mantuvieron en la tercera. No hubo modificaciones significativas en la técnica inhalatoria del grupo de control. Las tasas de adhesión al tratamiento medicamentoso en ambos grupos no se elevaron. Conclusión: La visita domiciliaria fue eficaz en mejorar los scores de técnica inhalatoria en pacientes con asma severa. Registro Brasileño de Ensayos Clínicos: RBR-8GZWZP

Resumo Objetivo: Avaliar a eficácia da visita domiciliar, em um grupo de crianças e adolescentes com asma grave, utilizando o escore da técnica inalatória e as taxas de adesão ao tratamento medicamentoso. Método: Estudo experimental randomizado controlado, com duração de 12 meses, envolvendo pacientes, com idades entre três e 17 anos, acompanhados regularmente em um ambulatório de pneumologia pediátrica de um hospital universitário da região Sudeste do Brasil. Um grupo de pacientes recebeu apenas consultas ambulatoriais e o outro grupo, além das consultas ambulatoriais, recebeu visitas da enfermeira no domicílio. Foram analisadas as diferenças entre os grupos nos desfechos: escores da técnica inalatória e taxa de adesão ao tratamento. Resultados: Participaram 29 pacientes. No grupo-intervenção, houve aumento estatisticamente significante dos escores da técnica inalatória (p<0,05) e eliminação de erros críticos da primeira para a segunda avaliação, resultados que foram mantidos na terceira. Não houve alterações significativas na técnica inalatória do grupo-controle. As taxas de adesão ao tratamento medicamentoso em ambos os grupos não se elevaram. Conclusão: A visita domiciliar foi eficaz em melhorar os escores de técnica inalatória em pacientes com asma grave. Registro Brasileiro de Ensaios Clínicos: RBR-8GZWZP.

Asma grave em pacientes adultos e pediátricos: Protocolo da Sociedade Mineira de Pneumologia e Cirurgia Torácica (SMPCT) - 2019 / Severe asthma in adult and pediatric patients: Protocol of the Sociedade Mineira de Pneumologia e Cirurgia Torácica (SMPCT) - 2019

Este documento é uma revisão do protocolo de asma grave da SMPCT de 2015, que se fez necessária devido à atualização de avanços em pesquisas, principalmente em fenotipagem/genotipagem e terapêutica da asma grave, além de asma grave na pediatria. A maioria da publicações relata que 5% a 10% dos asmáticos podem apresentar asma grave. Porém, levantamento na Holanda encontrou uma prevalência menor, de 3,6% ou 10,4/10000 habitantes, que parece ser mais próximo da realidade. Este protocolo tem como população alvo os pacientes com asma grave, adultos e pediátricos, conforme definições de asma grave da"International ERS/ATS guidelines on definition, evaluation and treatment of severe asthma" de 2014 e GINA 2018.1,3 Seus potenciais utilizadores são especialistas em doenças respiratórias que lidam com asma grave, e que devem ser os responsáveis pela aplicação do protocolo, e também clínicos gerais, pediatras, médicos de cuidados primários, enfermeiros, fisioterapeutas e outros profissionais da saúde. É aconselhável consulta com um especialista em asma nos seguintes casos: asma de difícil diagnóstico, suspeita de asma ocupacional, asma persistente não controlada com exacerbações frequentes, asma com risco de morte, eventos adversos significativos ou suspeita de subtipos de asma grave.4 Este documento não tem a intenção de instituir um tratamento padronizado, mas estabelecer bases racionais para decisões em pacientes com asma grave, pois as recomendações não conseguem abranger toda a complexidade do julgamento clínico em casos individuais. Os autores recomendam sua revisão e atualização no período máximo de 3 anos, ou, se necessário, em tempo menor.

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil.

OBJECTIVE: The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. METHODS: The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups. RESULTS: There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopathy and encephalomyopathy groups (p = 0.01). CONCLUSIONS: The translation of the NPMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.

The Newcastle Pediatric Mitochondrial Disease Scale: translation and cultural adaptation for use in Brazil / Escala Pediátrica de Doença Mitocondrial de Newcastle: tradução e adaptação cultural para uso no Brasil

ABSTRACT Objective The aim of this study was to translate and adapt the Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) to Portuguese for use in Brazil. Methods The scale was applied in 20 pediatric patients with mitochondrial disease, in three groups: myopathy (n = 4); Leigh syndrome (n = 8); and encephalomyopathy (n = 8). Scores were obtained for the various dimensions of the NPMDS, and comparisons were drawn between the groups. Results There was a statistically significant difference between the myopathy group and the Leigh syndrome group (p = 0.0085), as well as between the myopathy and encephalomyopathy groups (p = 0.01). Conclusions The translation of the NPMDS, and its adaptation to the socioeconomic and cultural conditions in Brazil, make the NPMDS score useful as an additional parameter in the evaluation and monitoring of pediatric patients with MD in Brazil.

RESUMO Objetivo O objetivo do presente estudo foi realizar a tradução e adaptação da escala NPMDS para a população brasileira. Métodos A escala foi aplicada em 20 crianças e adolescentes com doença mitocondrial (DM) divididos em três grupos: miopatia (n=4), síndrome de Leigh (n=8) e encefalomiopatia (n=8). Obteve-se os escores separados das dimensões da escala NPMDS, foram realizadas comparações entre os escores da NPMDS nos diferentes grupos. Conclusão A tradução da escala NPMDS e sua adequação as condições socioeconômicas e culturais de nossa população tornam este instrumento um parâmetro adicional na avaliação e acompanhamento de pacientes pediátricos com DM.

Phenotypes of severe asthma among children and adolescents in Brazil: a prospective study.

BACKGROUND: The morbidity associated with severe uncontrolled asthma is disproportionately higher in low- and middle-income countries than in high-income countries. The aim of this study was to describe the phenotypic characteristics of difficult-to-treat severe asthma and treatment-resistant severe asthma in a sample of children and adolescents in Brazil. METHODS: This was a prospective study, conducted between 2010 and 2014, following 61 patients (6-18 years of age) who had been diagnosed with severe uncontrolled asthma. The patients were classified and managed in accordance with the World Health Organization asthma follow-up protocol, which calls for re-evaluations of the diagnosis, level of control (functional and clinical), comorbidities, inhaler technique, and environmental factors, together with adjustment of the treatment to achieve a target level of control. We assessed pulmonary function, measured fractional exhaled nitric oxide, and performed sputum cytology. After the target rate of ≥ 80% adherence to inhaled corticosteroid treatment had been reached and all of the re-evaluations had been performed, the patients incorrectly diagnosed with severe uncontrolled asthma were excluded and the remaining patients were classified as having treatment-resistant or difficult-to-treat severe asthma. RESULTS: We found that, of the 61 patients evaluated, 10 had been misdiagnosed (i.e., they did not have asthma), 15 had moderate asthma, and 36 had severe uncontrolled asthma. Among those 36 patients, the asthma was classified as treatment-resistant in 20 (55.6%) and as difficult-to-treat in 16 (44.4%). In comparison with the patients with difficult-to-treat severe asthma, those with treatment-resistant severe asthma showed a higher median level of fractional exhaled nitric oxide (40 ppb vs. 12 ppb; P < 0.037) and a lower median forced expiratory volume in one second (61% vs. 87%; P < 0.001). CONCLUSIONS: Although patients with treatment-resistant severe asthma cannot always be distinguished from those with difficult-to-treat severe asthma on the basis of baseline clinical characteristics, reduced airflow and elevated fractional exhaled nitric oxide are factors that could distinguish the two groups. Patients diagnosed with severe uncontrolled asthma should be re-evaluated on a regular basis, in order to exclude other diagnoses, to reduce exacerbations, and to identify patients with persistent airflow limitation.

A workshop on asthma management programs and centers in Brazil: reviewing and explaining concepts.

OBJECTIVE: To report the results of a workshop regarding asthma management programs and centers (AMPCs) in Brazil, so that they can be used as a tool for the improvement and advancement of current and future AMPCs. METHODS: The workshop consisted of five presentations and the corresponding group discussions. The working groups discussed the following themes: implementation of asthma management strategies; human resources needed for AMPCs; financial resources needed for AMPCs; and operational maintenance of AMPCs. RESULTS: The workshop involved 39 participants, from all regions of the country, representing associations of asthma patients (n = 3), universities (n = 7), and AMPCs (n = 29). We found a direct relationship between a lack of planning and the failure of AMPCs. Based on the experiences reported during the workshop, the common assumptions about AMPCs in Brazil were the importance of raising awareness of managers; greater community participation; interdependence between primary care and specialized care; awareness of regionalization; and use of medications available in the public health system. CONCLUSIONS: Brazil already has a core of experience in the area of asthma management programs. The implementation of strategies for the management of chronic respiratory disease and their incorporation into health care system protocols would seem to be a natural progression. However, there is minimal experience in this area. Joint efforts by individuals with expertise in AMPCs could promote the implementation of asthma management strategies, thus speeding the creation of treatment networks, which might have a multiplier effect, precluding the need for isolated centers to start from zero.

OBJETIVO: Relatar os resultados de uma oficina de trabalho sobre programas e centros de atenção a asmáticos (PCAAs) no Brasil para que possam servir como instrumento para melhoria e avanço dos PCAAs existentes e criação de novos. MÉTODOS: A oficina de trabalho constituiu-se de cinco apresentações e discussões em grupos. Os grupos de trabalho discutiram os seguintes temas: implementação de uma linha de cuidado em asma; recursos humanos necessários para os PCAA; recursos necessários para financiar os PCAA; e manutenção do funcionamento dos PCAAs. RESULTADOS: A oficina envolveu 39 participantes de todas as regiões do país, representando associações de asmáticos (n = 3), centros universitários (n = 7) e PCAAs (n = 29). Evidenciou-se uma relação direta entre a ausência de planejamento e o insucesso dos PCAAs. Com base nas experiências brasileiras elencadas durante a oficina, as premissas comuns foram a importância da sensibilização do gestor, maior participação da comunidade, interdependência entre a atenção primária e a especializada, observação da regionalização e utilização dos medicamentos disponíveis no sistema público de saúde. CONCLUSÕES: O Brasil já tem um núcleo de experiências na área programática da asma. A implementação de uma linha de cuidado em doenças respiratórias crônicas e sua inclusão nas redes de saúde parecem ser o caminho natural. Porém, a experiência nessa área ainda é pequena. Agregar pessoas com experiência nos PCAAs na elaboração da linha de cuidado em asma encurtaria tempo na criação de redes de atenção com possível efeito multiplicador, evitando que se partisse do zero em cada local isolado.

A workshop on asthma management programs and centers in Brazil: reviewing and explaining concepts / Programas e centros de atenção a asmáticos no Brasil; uma oficina de trabalho: revisitando e explicitando conceitos

Objective: To report the results of a workshop regarding asthma management programs and centers (AMPCs) in Brazil, so that they can be used as a tool for the improvement and advancement of current and future AMPCs. Methods: The workshop consisted of five presentations and the corresponding group discussions. The working groups discussed the following themes: implementation of asthma management strategies; human resources needed for AMPCs; financial resources needed for AMPCs; and operational maintenance of AMPCs. Results: The workshop involved 39 participants, from all regions of the country, representing associations of asthma patients (n = 3), universities (n = 7), and AMPCs (n = 29). We found a direct relationship between a lack of planning and the failure of AMPCs. Based on the experiences reported during the workshop, the common assumptions about AMPCs in Brazil were the importance of raising awareness of managers; greater community participation; interdependence between primary care and specialized care; awareness of regionalization; and use of medications available in the public health system. Conclusions: Brazil already has a core of experience in the area of asthma management programs. The implementation of strategies for the management of chronic respiratory disease and their incorporation into health care system protocols would seem to be a natural progression. However, there is minimal experience in this area. Joint efforts by individuals with expertise in AMPCs could promote the implementation of asthma management strategies, thus speeding the creation of treatment networks, which might have a multiplier effect, precluding the need for isolated centers to start from zero. .

Objetivo: Relatar os resultados de uma oficina de trabalho sobre programas e centros de atenção a asmáticos (PCAAs) no Brasil para que possam servir como instrumento para melhoria e avanço dos PCAAs existentes e criação de novos. Métodos: A oficina de trabalho constituiu-se de cinco apresentações e discussões em grupos. Os grupos de trabalho discutiram os seguintes temas: implementação de uma linha de cuidado em asma; recursos humanos necessários para os PCAA; recursos necessários para financiar os PCAA; e manutenção do funcionamento dos PCAAs. Resultados: A oficina envolveu 39 participantes de todas as regiões do país, representando associações de asmáticos (n = 3), centros universitários (n = 7) e PCAAs (n = 29). Evidenciou-se uma relação direta entre a ausência de planejamento e o insucesso dos PCAAs. Com base nas experiências brasileiras elencadas durante a oficina, as premissas comuns foram a importância da sensibilização do gestor, maior participação da comunidade, interdependência entre a atenção primária e a especializada, observação da regionalização e utilização dos medicamentos disponíveis no sistema público de saúde. Conclusões: O Brasil já tem um núcleo de experiências na área programática da asma. A implementação de uma linha de cuidado em doenças respiratórias crônicas e sua inclusão nas redes de saúde parecem ser o caminho natural. Porém, a experiência nessa área ainda é pequena. Agregar pessoas com experiência nos PCAAs na elaboração da linha de cuidado em asma encurtaria tempo na criação de redes de atenção com possível efeito multiplicador, evitando que se partisse do zero em cada local isolado. .

Adesão e atenção compartilhada na assistência

Aula 9 (nove), da Capacitação a distância em Asma na Infância e Adolescência. Aborda a adesão ao tratamento da asma e atenção compartilhada.

Motor assessment in patients with Duchenne muscular dystrophy.

OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC), and application of the Motor Function Measure (MFM). The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04). In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006). Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

Asma de difícil controle em pediatria: desafio presente e futuro / Hard-to-control asthma and pediatrics: current and future challenges

Objetivos: fazer revisão dos aspectos epidemiológicos, clínicos, propedêuticos e do manejo terapêutico da asma de difícil controle. Fonte dos dados: pesquisa não sistemática nas bases de dados Medline e LILACS. Síntese dos dados: a asma de difícil controle (ADC) constitui-se em síndrome definida na ausência de controle da asma com doses de budesonida, ou equivalente, iguais ou superiores a 800 ?g por dia. Apesar da simplicidade dessa definição clínica, o manejo propedêutico e terapêutico envolve multiplicidade de fatores e os pacientes devem ser acompanhados por pneumopediatra e equipe multidisciplinar em centros de referência. É necessário confirmar o diagnóstico de asma, avaliar diagnósticos alternativos e/ou fatores agravantes, verificar a adesão, a presença de causas psicossociais e estabelecer o fenótipo da asma a partir de marcadores inflamatórios (invasivos e não invasivos). As pesquisas revelam que os diferentes fenótipos requerem tratamentos específicos, entretanto, a aplicação na prática clínica desse conhecimento fenotípico ainda requer mais estudos. Conclusões: a asma de difícil controle em criança ou adolescente pode estar relacionada a múltiplas causas e à existência de diferentes subgrupos de ADC e com diferentes fisiopatologias de base.

Objectives: To review the epidemiological, clinical, propaedeutic aspects as well as the treatment of hard-to-control asthma. Source of data : Non-systematic research on Medline and LILACS databases. Data summary: Hard-to-control asthma (HCA) is a syndrome defined as the lack of asthma control despite daily doses of budesonide or equivalent that are equal to or higher than 800 ?g. This clinical definition may sound simple, but preliminary handling and treatment involve multiple factors and patients should be followed up by a pediatric pulmonologist and a multidisciplinary team at specialist care centers. It is necessary to confirm the diagnosis, to assess alternative diagnoses and/or aggravating factors, assess compliance and existence of psychosocial causes, and to define the asthma phenotype based on inflammatory markers (both invasive and non-invasive). Studies show that different phenotypes demand different treatments; however, further studies are needed to investigate the actual application of this knowledge in the clinical practice. Conclusions: Hard-to-control asthma in children or adolescents can be related to multiple causes and the existence of different HCA subgroups with different pathophysiological grounds

Motor assessment in patients with Duchenne muscular dystrophy / Avaliação motora em pacientes com distrofia muscular de Duchenne

OBJECTIVE: Evaluate muscle force and motor function in patients with Duchenne muscular dystrophy (DMD) in a period of six months. METHOD: Twenty children and adolescents with diagnosis of DMD were evaluated trough: measurement of the strength of the flexors and extensors of the shoulder, elbow, wrist, knee and ankle through the Medical Research Council (MRC), and application of the Motor Function Measure (MFM). The patients were evaluated twice within a six-month interval. RESULTS: Loss of muscle strength was identified in the MRC score for upper proximal members (t=-2.17, p=0.04). In the MFM, it was noted significant loss in the dimension 1 (t=-3.06, p=0.006). Moderate and strong correlations were found between the scores for muscular strength and the MFM dimensions. CONCLUSION: The MFM scale was a useful instrument in the follow up of patients with DMD. Moreover, it is a more comprehensive scale to assess patients and very good for conducting trials to evaluate treatment.

OBJETIVO: Avaliar a força muscular e função motora em pacientes com distrofia muscular de Duchenne (DMD) em intervalo de seis meses. MÉTODO: Vinte crianças e adolescentes com diagnóstico de DMD foram avaliados quanto às seguintes medidas: força de flexores e extensores de ombro, cotovelo, punho, quadril, joelho e tornozelo, por meio do Medical Research Council (MRC) e aplicação da Medida da Função Motora (MFM). Os pacientes foram analisados em dois momentos, com intervalo de seis meses. RESULTADOS: Observou-se perda de força muscular identificada por meio da MRC para membros superiores proximais (t=-2,17, p=0,04). Na MFM, observou-se perda significativa na dimensão 1 (t=-3,06, p=0,006). Foram registradas correlações médias a fortes entre os escores de força muscular e as dimensões da MFM. CONCLUSÃO: A escala MFM mostrou ser um instrumento útil no acompanhamento dos pacientes com DMD. É uma escala funcional, o que a torna boa candidata para o acompanhamento de pacientes com DMD em uso de novas drogas.

Prevalência e fatores de risco associados à sibilância em lactentes / Prevalence and risk factors associated with the infant's wheeezing

O objetivo deste trabalho foi fazer um levantamento bibliográfico focalizando a pre- valência de sibilância em lactentes. A pesquisa foi limitada a estudos publicados no período de 1999 a 2010 em português, espanhol e inglês e incluídos nas bases de dados MEDLINE (PubMed) e Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS), utilizando-se as palavras-chave infant, prevalence, wheezing, bronchospasm, and asthma. A síndrome sibilante é comum na infância, apresenta o início dos sintomas nos primeiros anos de vida e inclui diversos diagnósticos diferenciais. A determinação da sua prevalência bem como dos seus fatores predisponentes é de fundamental importância para o planejamento das ações educativas e de prevenção.

The objective of this study was to review the literature focusing the prevalence of wheezing in infancy. The search was limited to studies published between 1999 and 2010 in Portuguese, Spanish or English and included in the LfLACS and MEDLfNE da- tabases using the key-words infant, prevalence, wheezing, bronchospasm and asthma. The wheezing syndrome is common in childhood with the beginning of symptoms in the first years of life and including many differential diagnosis. The evaluation of its prevalence as well as of its predisposing factors is extremely important for planning educational and preventive actions.

Doenças neuromusculares e instrumentos úteis na avaliação motora em crianças e adolescentes / Neuromuscular diseases and usefull instruments in the motor evaluation of children and adolescents

As doenças neuromusculares acometem a unidade motora, podendo comprometer os neurônios do corno anterior da medula, as raízes nervosas e os nervos periféricos, a junção neuromuscular ou o músculo. Podem ser de origem genética ou adquirida. Na infância predominam as de origem genética, sendo as mais frequentes a distrofia muscular tipo Duchenne e a amiotrofia espinhal progressiva. Vários métodos e escalas foram propostos para a avaliação e acompanhamento aos pacientes com doenças neuromusculares, tais como a escala de força manual, conhecida como medical research counsil (MRC), a goniometria e escalas funcionais. Entre as escalas funcionais, destaca-se a escala medida da função motora (MFM), uma vez que ela pode ser utilizada em qualquer doença neuromuscular,é de fácil aplicação e de baixo custo. O presente estudo é uma revisão bibliográfica não sistemática sobre as doenças neuromusculares mais comuns na infância e os instrumentos de medida úteis na avaliação dos pacientes portadores dessas doenças...

The neuromuscular diseases affect the motor unit, and may compromise the neurons of the anterior horn of the spinal cord, the nerves’ roots and the peripheral nerves, the neuro muscular junction or the muscle. They can have genetic or acquired origin. The genetic origin diseases predominate in childhood, and the most frequent are the Duchenne muscular dystrophy and the spinal muscular atrophy. Several methods and scales were proposed for the assessment and monitoring of patients with neuromuscular diseases, such as the manual strength know as medical research council (MRC), the goniometry and the functional scales. Among the functional scales the motor function measure (MFM) is noteworthy, asit can be used in any neuromuscular disease, is easily applicable and has low cost. This study is a bibliographic review on the most common neuromuscular diseases in childhood and the useful measuring instruments for the assessment of patients with these diseases...

Bronquiolite obliterante pós-infeccciosa: importância do diagnóstico precoce e da abordagem pediátrica / Post infectious bronchiolitis obliterans: importance of early diagnosis and pediatric management

A Bronquiolite obliterante pós-infecciosa (BOPI) é caracterizada por obstrução crônica do fluxo aéreo associada à lesão inflamatória das pequenas vias aéreas, que se manifesta clinicamente pela persistência de sintomas como taquipnéia, sibilância, tosse e hipoxemia por mais de 2 meses após um episodio de bronquiolite viral aguda (BVA) e/ou pneumonia viral. A BOPI não é tão rara, já que 10% dos lactentes podem ter BVA e1% deles podem evoluir para BOPI. Descrevemos o caso de um paciente com história típica, mas com diagnóstico tardio e elevada morbidade. Os resultados dos exames laboratoriais e de imagem são aqui apresentados. A evolução desse caso ratifica a importância de investigação apropriada da criança com doença obstrutiva crônica. Para se reduzir a potencial morbidade e melhorar a qualidade de vida dos pacientes com BOPI, são necessários a suspeita e o diagnóstico mais precoce por parte do pediatra e o acompanhamento multidisciplinar...

Post-infectious Bronquiolitis Obliterans (PIBO) is characterized by chronic airflowobstruction associate to inflammatory injury of small airways, clinically suspected by the persistence of symptoms such as tachypnea, wheezing, cough and hypoxaemia for morethan 2 months after an episode of acute viral bronquiolitis (AVB) and/or viral pneumonia.PIBO is not so rare, since 10% of infants may have AVB and 1% of them may developBOPI. We describe the case of a patient with a typical history of PIBO, but with delayed diagnosis and high morbidity. Results of the laboratorial exams and image are presented in this study. The evolution of this case emphasizes the importance of appropriate investigation of chronic obstructive illness in children. It is necessary to stimulate early suspicionand diagnosis by pediatricians and follow-up by a multidisciplinary team, in order to decrease potential morbidity and improve quality of life of these patients...

Atualização sobre a abordagem da fisioterapia respiratória nas doenças neuromusculares / Update on the approach of respiratory therapy in patients withneuromuscular diseases

Objetivo: Avaliar o papel da fisioterapia na abordagem das doenças neuromusculares (DNM), com ênfase nos aspectos preventivos e terapêuticos da fisioterapia respiratória. Método: Revisão bibliográfica não sistemática, abrangendo os últimos vinte anos, utilizando as bases de dados MEDLINE e LILACS, através dos seguintes descritores: Doenças neuromusculares, fisioterapia, capacidade vital e insuficiência respiratória. Resultados: Os artigos pesquisados sugerem a necessidade de se estabelecer uma rotina de avaliação periódica da função respiratória a fim de se introduzir medidas fisioterapêuticas pertinentes a cada estágio da doença. O acompanhamento deve incluir provas de função pulmonar, bem como técnicas específicas de fisioterapia respiratória, a fim de se evitar complicações como insuficiência respiratória. Conclusão: O acompanhamento periódico e a introdução de medidas preventivas de fisioterapia têm contribuído para aumentar a sobrevida e melhoraria da qualidade de vida dos pacientes com doenças neuromusculares.

Objective: To assess the role of physiotherapy in approaching neuromuscular disease (NMD), with emphasis on preventive and therapeutic aspects of respiratory therapy. Methods: A nonsystematic literature review covering the past twenty years, using the databases MEDLINE and LILACS through the following descriptors: neuromuscular diseases, physical therapy, vital capacity and respiratory failure. Results: The studies reviewed show the need to establish a routine periodic evaluation of respiratory function in order to introduce physical therapy measures relevant to each stage of the disease. The monitoring should include pulmonary function tests and specific techniques of chest physiotherapy, in order to avoid complications such as respiratory failure. Conclusion: The introduction of regular monitoring and preventive physiotherapy measures have helped to increase survival and improve quality of life of patients with neuromuscular diseases.