Associação genética da asma e da sibilância induzida por vírus: uma revisão sistemática

Various wheezing phenotypes can be identified based on differences in natural histories, risk factors and responses to treatment. In epidemiologic studies, atopic asthma or virus-induced wheezing can be discriminated by the presence or the absence of sensitization to allergens. Children with asthma have been shown to present lower levels of lung function. Patients with viral respiratory infections evolve from normal lung function to enhanced airway reactivity. The objective of this study was to identify genes and polymorphisms associated with different wheezing phenotypes. Using data obtained from the Genetic Association Database, we systematically reviewed studies on genes and polymorphisms that have been associated with virus-induced wheezing or atopic asthma. The research was carried out in February of 2009. Genes associated with the studied outcomes in more than three studies were included in the analysis. We found that different genes and loci have been associated with virus-induced wheezing or atopic asthma. Virus-induced wheezing has frequently been associated with IL-8 polymorphisms, whereas atopic asthma and atopy have frequently been associated with Th2 cytokine gene (CD14 and IL-13) polymorphisms on chromosome 5. This review provides evidence that different wheezing disorders in childhood can be differently affected by genetic variations, considering their role on airway inflammation and atopy. Future studies of genetic associations should consider the different wheezing phenotypes in infancy. In addition, stratified analyses for atopy can be useful for elucidating the mechanisms of the disease.Diversos fenótipos de sibilância têm sido identificados com base em diferenças na história natural, fatores de risco e resposta ao tratamento. Em estudos epidemiológicos, a asma atópica ou sibilância induzida por vírus pode ser discriminada pela presença ou ausência de sensibilização a alérgenos. As crianças com asma apresentam níveis menores de função pulmonar. Pacientes com infecções respiratórias virais apresentam-se com função pulmonar normal, mas mostram reatividade da via aérea aumentada. O objetivo deste trabalho foi identificar genes e polimorfismos associados aos diferentes fenótipos de sibilância. Utilizando dados do Genetic Association Database, foi realizada uma revisão sistemática de estudos sobre genes e polimorfismos associados à sibilância induzida por vírus ou à asma atópica. O levantamento foi realizado em fevereiro de 2009. Todos os genes associados com o desfecho estudado presentes em mais de três estudos foram incluídos na análise. Identificamos que diferentes genes e locos têm sido associados à sibilância induzida por vírus ou à asma atópica. Enquanto a sibilância induzida por vírus foi mais frequentemente associada a polimorfismos no gene IL-8, polimorfismos localizados em genes de citocinas Th2 no cromossomo 5 (CD14 e IL-13) foram frequentemente associados à atopia ou à asma atópica. Esta revisão mostrou evidências de que a sibilância na infância pode ser afetada por variações genéticas de formas diferentes, dependendo de seu papel na inflamação das vias aéreas e na atopia. Estudos futuros de associação genética deverão levar em consideração os diferentes fenótipos na infância. Além disso, análises estratificadas para atopia podem ser úteis para elucidar os mecanismos da doença.1220122

Impact of rapid maxillary expansion on mouth-breathing children and adolescents : a systematic review

Rapid maxillary expansion (RME) is an orthodontic procedure used to correct transverse maxillary deficiency. Due to the anatomical relationship between the palate and the nasal cavity, RME promotes an increase in nasal dimensions, which should hypothetic

Functional performance on the six-minute walk test in patients with cystic fibrosis

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.OBJETIVO: Comparar pacientes com fibrose cística e indivíduos saudáveis quanto ao desempenho funcional no teste de caminhada de seis minutos (TC6). MÉTODOS: Estudo transversal e prospectivo, com indivíduos saudáveis e com fibrose cística de um hospital universitário de referência na cidade de Campinas (SP). O TC6 foi aplicado de acordo com as normas da American Thoracic Society e repetido após 30 min de repouso. Foram determinados FR, FC, SpO2 e escore da escala de Borg em todos os participantes, assim como o status nutricional e valores espirométricos para os pacientes com fibrose cística. Excluíram-se pacientes em exacerbação pulmonar. Foram utilizados coeficientes de correlação de Spearman e ANOVA para medidas repetidas. RESULTADOS: Foram incluídos 55 pacientes no grupo fibrose cística e 185 indivíduos saudáveis no grupo controle, com médias de idade de 12,2 ± 4,3 anos e 11,3 ± 4,3 anos, respectivamente. A distância percorrida no TC6 (DTC6) foi significativamente menor no grupo fibrose cística que no grupo controle em ambos os testes (547,2 ± 80,6 m vs. 610,3 ± 53,4 m no primeiro e 552,2 ± 82,1 m vs. 616,2 ± 58,0 m no segundo; p < 0,0001 para ambos). A DTC6 se correlacionou com idade, peso e altura somente no grupo fibrose cística. A SpO2 manteve-se estável durante o teste, com aumento da FC e da FR. CONCLUSÕES: Nesta amostra, os pacientes com fibrose cística apresentaram um menor desempenho funcional no TC6 quando comparados a indivíduos saudáveis de mesma faixa etária, sem a necessidade de repetição imediata do teste.73574

Avaliação das funções orofaciais do sistema estomatognático nos níveis de gravidade de asma

PURPOSE: To compare the orofacial functions (chewing, swallowing and speech) in children with asthma and healthy children. METHODS: A cross sectional study including 54 children of both genders with ages between 7 and 10 years was conducted. Twenty-seven of these subjects composed the experimental group, and were subdivided into two severity levels of asthma: Group I - mild intermittent and persistent asthma; Group II - persistent moderate to severe asthma. Twenty-seven healthy children were included in the control group (Group III). Speech-language pathology evaluation used the adapted Orofacial Myofunctional Assessment Protocol. Adaptation consisted in the exclusion of the structural part of the test, since this was not the aim of the study. The structural part was excluded because it was not the aim of this study. RESULTS: It was found alterations in oral functions, with significant differences between the three groups. These alterations showed no correlation with asthma severity, since the highest rate of alterations was found in Group I (mild asthma). CONCLUSION: Regardless of the severity level, children with asthma have altered patterns of chewing, swallowing and speech.OBJETIVO: Avaliar as funções orofaciais de mastigação, deglutição e fala em crianças asmáticas e crianças saudáveis. MÉTODOS: Estudo de corte transversal com 54 crianças, com idades entre 7 e 10 anos completos, de ambos os gêneros. Do total, 27 compuseram o grupo experimental e foram subdivididas em dois níveis de gravidade de asma: Grupo I - asma intermitente ou persistente leve; Grupo II - asma persistente moderada ou grave. Fizeram parte do grupo controle (Grupo III) 27 crianças saudáveis. Para a avaliação fonoaudiológica foi utilizado o Protocolo de Avaliação Miofuncional Orofacial adaptado. A adaptação constituiu na exclusão da parte estrutural, já que esta não fazia parte do objetivo do estudo. RESULTADOS: Alterações nas funções orofaciais foram encontradas, com diferenças entre os três grupos estudados. Essas alterações não tiveram relação com a gravidade da asma, visto que o maior índice de alterações foi encontrado no Grupo I (asma leve). CONCLUSÃO: Independentemente do nível de gravidade da doença, crianças asmáticas apresentam padrões alterados de mastigação, deglutição e fala.11912

Mouth breathing and forward head posture: effects on respiratory biomechanics and exercise capacity in children

OBJECTIVE: To evaluate submaximal exercise tolerance and respiratory muscle strength in relation to forward head posture (FHP) and respiratory mode in children, comparing mouth-breathing (MB) children with nasal-breathing (NB) children. METHODS: This was a controlled, analytical cross-sectional study involving children in the 8-12 year age bracket with a clinical otorhinolaryngology diagnosis of MB, recruited between October of 2010 and January of 2011 from the Mouth Breather Clinic at the State University of Campinas Hospital de Clínicas, located in the city of Campinas, Brazil. The exclusion criteria were obesity, asthma, chronic respiratory diseases, heart disease, and neurological or orthopedic disorders. All of the participants underwent postural assessment and the six-minute walk test (6MWT), together with determination of MIP and MEP. RESULTS: Of the 92 children in the study, 30 presented with MB and 62 presented with NB. In the MB group, the differences between those with moderate or severe FHP and those with normal head posture, in terms of the mean MIP, MEP and six-minute walk distance (6MWD), were not significant (p = 0.079, p = 0.622, and p = 0.957, respectively). In the NB group, the mean values of MIP and MEP were higher in the children with moderate FHP than in those with normal head posture (p = 0.003 and p = 0.004, respectively). The mean MIP, MEP, and 6MWD were lower in the MB group than in the NB group. Values of MIP and MEP were highest in the children with moderate FHP. CONCLUSIONS: Respiratory biomechanics and exercise capacity were negatively affected by MB. The presence of moderate FHP acted as a compensatory mechanism in order to improve respiratory muscle function.OBJETIVO: Avaliar a tolerância ao exercício submáximo e a força muscular respiratória em relação à anteriorização da cabeça (AC) e ao tipo respiratório em crianças com respiração bucal (RB) ou nasal (RN). MÉTODOS: Estudo analítico transversal com um grupo controle no qual foram incluídas crianças de 8 a 12 anos com diagnóstico clínico otorrinolaringológico de RB, recrutadas do Ambulatório do Respirador Bucal do Hospital de Clínicas da Universidade Estadual de Campinas, Campinas (SP), entre outubro de 2010 e janeiro de 2011. Os critérios de exclusão foram obesidade, asma, doenças respiratórias crônicas, cardiopatias e distúrbios neurológicos ou ortopédicos. Todos os participantes foram submetidos a avaliação postural, teste de caminhada de seis minutos (TC6) e determinação de PImáx e PEmáx. RESULTADOS: Das 92 crianças do estudo, 30 tinham RB e 62 tinham RN. No grupo RB, não houve diferenças nas médias de PImáx, PEmáx e distância percorrida pelo TC6 (DTC6) entre o grupo com AC classificada como grave ou moderada e aquele com AC normal (p = 0,622; p = 0,957; e p = 0,079, respectivamente). No grupo RN, as médias de PImáx e PEmáx foram maiores no grupo com AC moderada do que naquele com AC normal (p = 0,003 e p = 0,004, respectivamente). Os valores de PImáx, PEmáx e DTC6 foram menores no grupo RB do que no grupo RN. A presença de AC moderada determinou maiores valores de PImáx e PEmáx. CONCLUSÕES: A RB afetou negativamente a biomecânica respiratória e a capacidade de exercício. A presença de AC moderada atuou como um mecanismo de compensação para uma melhor função da musculatura respiratória.47147

Asthma: Gln27glu And Arg16gly Polymorphisms Of The Beta2-adrenergic Receptor Gene As Risk Factors.

Asthma is caused by both environmental and genetic factors. The ADRB2 gene, which encodes the beta 2-adrenergic receptor, is one of the most extensively studied genes with respect to asthma prevalence and severity. The Arg16Gly (+46A > G) and Gln27Glu (+79C > G) polymorphisms in the ADRB2 gene cause changes in the amino acids flanking the receptor ligand site, altering the response to bronchodilators and the risk of asthma through complex pathways. The ADRB2 polymorphisms affect beta-adrenergic bronchodilator action and are a tool to identify at-risk populations. To determine the frequency of these two polymorphisms in allergic asthma patients and healthy subjects and to correlate these data with the occurrence and severity of asthma. Eighty-eight allergic asthma patients and 141 healthy subjects were included in this study. The ADRB2 polymorphisms were analyzed using the amplification-refractory mutation system - polymerase chain reaction (ARMS-PCR) technique. The statistical analysis was performed with the SPSS 21.0 software using the Fisher's Exact and χ2 tests. The ADRB2 polymorphisms were associated with asthma occurrence. The Arg16Arg, Gln27Gln and Gln27Glu genotypes were risk factors; the odds ratios were 6.782 (CI = 3.07 to 16.03), 2.120 (CI = 1.22 to 3.71) and 8.096 (CI = 3.90 to 17.77), respectively. For the Gly16Gly and Glu27Glu genotypes, the odds ratios were 0.312 (CI = 0.17 to 0.56) and 0.084 (CI = 0.04 to 0.17), respectively. The haplotype analysis showed that there were associations between the following groups: Arg16Arg-Gln27Gln (OR = 5.108, CI = 1.82 to 16.37), Gly16Gly-Glu27Glu (OR = 2.816, CI = 1.25 to 6.54), Arg16Gly-Gln27Glu (OR = 0.048, CI = 0.01 to 0.14) and Gly16Gly-Gln27Glu (OR = 0.1036, CI = 0.02 to 0.39). The polymorphism Gln27Glu was associated with asthma severity, as the Gln27Gln genotype was a risk factor for severe asthma (OR = 2.798, CI = 1.099 to 6.674) and the Gln27Glu genotype was a protective factor for mild (OR = 3.063, CI = 1.037 to 9.041) and severe (OR = 0.182, CI = 0.048 to 0.691) asthma. The Arg16Gly and Gln27Glu polymorphisms in the ADRB2 gene are associated with asthma presence and severity.10

Epidemiological And Genetic Characteristics Associated With The Severity Of Acute Viral Bronchiolitis By Respiratory Syncytial Virus.

to assess the epidemiological and genetic factors associated with severity of acute viral bronchiolitis (AVB) by respiratory syncytial virus (RSV). the key words bronchiolitis, risk factor, genetics and respiratory syncytial virus, and all combinations among them were used to perform a search in the PubMed, SciELO, and Lilacs databases, of articles published after the year 2000 that included individuals younger than 2 years of age. a total of 1,259 articles were found, and their respective summaries were read. Of these, 81 were selected, which assessed risk factors for the severity of AVB, and were read in full; the 60 most relevant studies were included. The epidemiologic factors associated with AVB severity by RSV were prematurity, passive smoking, young age, lack of breastfeeding, chronic lung disease, congenital heart disease, male gender, ethnicity, viral coinfection, low weight at admission, maternal smoking during pregnancy, atopic dermatitis, mechanical ventilation in the neonatal period, maternal history of atopy and/or asthma during pregnancy, season of birth, low socioeconomic status, Down syndrome, environmental pollution, living at an altitude > 2,500 meters above sea level, and cesarean section birth. Conversely, some children with severe AVB did not present any of these risk factors. In this regard, recent studies have verified the influence of genetic factors on the severity of AVB by RSV. Polymorphisms of the TLRs, RANTES, JUN, IFNA5, NOS2, CX3CR1, ILs, and VDR genes have been shown to be associated with more severe evolution of AVB by RSV. the severity of AVB by RSV is a phenomenon that depends on the varying degrees of interaction among epidemiological, environmental, and genetic variables.89531-4

Influence Of Thoracic Spine Postural Disorders On Cardiorespiratory Parameters In Children And Adolescents With Cystic Fibrosis.

To assess the impact of increased thoracic kyphosis on pulmonary function and functional capacity in children and adolescents with cystic fibrosis (CF) and to verify the influence of disease severity, age and nutritional status on this deformity. This was a cross-sectional, analytical study conducted at a university hospital. It included CF patients with confirmed diagnosis and without pulmonary exacerbation. The sample was submitted to postural assessment, spirometry (FEV1, FVC and FEV1/FVC) and 6-minute walk test distance (6-MWT distance). Data were analyzed using the Mann Whitney test, Spearman correlation and logistic regression. Forty-two patients were enrolled, 61.9% presented increase of thoracic kyphosis. There was no difference in values of FEV1, FVC, FEV1/FVC and 6-MWT distance between the groups with or without thoracic kyphosis (p = 0.407; p = 0.756; p = 0.415; p = 0.294). In the group without alteration, patients with more disease severity had a mean FEV1 of 74.1±21.9% and FVC of 79.8±18.7% while in those of lesser severity higher values were found (95.6±12.2% and 97.6±13.2%, respectively) (p = 0.027 and p = 0.027). The presence of kyphosis was correlated with age (p = 0.048) but not with severity (p = 0.151) and body mass index (p = 0.088). There was a high prevalence of increased thoracic kyphosis in children and adolescents with CF. The deformity did not affect pulmonary function and functional capacity and there was no relationship with disease severity. Regardless of posture, worsening of disease severity determined worsening of pulmonary function.88310-

Effect of exercise test on pulmonary function of obese adolescents

AbstractObjectiveto investigate the pulmonary response to exercise of non-morbidly obese adolescents, considering the gender.Methodsa prospective cross-sectional study was conducted with 92 adolescents (47 obese and 45 eutrophic), divided in four groups according to obesity and gender. Anthropometric parameters, pulmonary function (spirometry and oxygen saturation [SatO2]), heart rate (HR), blood pressure (BP), respiratory rate (RR), and respiratory muscle strength were measured. Pulmonary function parameters were measured before, during, and after the exercise test.ResultsBP and HR were higher in obese individuals during the exercise test (p = 0.0001). SatO2 values decreased during exercise in obese adolescents (p = 0.0001). Obese males had higher levels of maximum inspiratory and expiratory pressures (p = 0.0002) when compared to obese and eutrophic females. Obese males showed lower values of maximum voluntary ventilation, forced vital capacity, and forced expiratory volume in the first second when compared to eutrophic males, before and after exercise (p = 0.0005). Obese females had greater inspiratory capacity compared to eutrophic females (p = 0.0001). Expiratory reserve volume was lower in obese subjects when compared to controls (p ≤ 0.05).Conclusionobese adolescents presented changes in pulmonary function at rest and these changes remained present during exercise. The spirometric and cardiorespiratory values were different in the four study groups. The present data demonstrated that, in spite of differences in lung growth, the model of fat distribution alters pulmonary function differently in obese female and male adolescents

Quality Of Life Assessment In Patients With Cystic Fibrosis By Means Of The Cystic Fibrosis Questionnaire.

To assess the quality of life (QoL) of patients with cystic fibrosis (CF) followed at a university referral center for CF. A cross-sectional study involving application of the Cystic Fibrosis Questionnaire (CFQ) and Shwachman score in CF patients between April of 2008 and June of 2009. The sample consisted of 75 patients. The mean age was 12.5 ± 5.1 years (range, 6.1-26.4 years). The patients were divided into three groups by age in years: group I ( 14). The highest and lowest CFQ scores were for the nutrition domain in group III (89.3 ± 16.2) and the social domain in group II (59.5 ± 22.3), respectively. Groups I and III differed significantly regarding the treatment domain (p = 0.001). Regarding Shwachman scores, there were significant differences between patients scoring 70 in the social (group I; p = 0.045), respiratory (group II; p = 0.053), and digestive (p = 0.042) domains. In group III, severity did not correlate with QoL. In groups I and II, patients with an FEV1 < 80% of predicted did not differ from other patients for any CFQ domain. However, in group III, values for the following domains were significantly lower in patients with an FEV1 < 80%: physical (p = 0.012); body image (p = 0.031); respiratory (p = 0.023), emotional (p = 0.041); and social role (p = 0.024). It is important to assess QoL in CF patients, because it can improve treatment compliance.37184-9