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BACKGROUND: Infections caused by bacteria or viruses are frequent in common variable immunodeficiency (CVID) patients due to antibody deficiencies, which may be associated with altered T cell function. CVID patients are frequently in contact with pathogen-associated molecular patterns (PAMPs), leading to the activation of innate immunity through Toll-like receptors (TLR) affecting T cell activation. We evaluated the effect of TLR activation on T cells in CVID patients undergoing intravenous immunoglobulin (IVIg) replacement using synthetic ligands. METHODS: Expression of exhaustion, activation and maturation markers on T cells from peripheral blood as well as regulatory T cells and follicular T cells in peripheral blood mononuclear cells (PBMCs) from CVID and healthy individuals were evaluated by flow cytometry. PBMCs cultured with TLR agonists were assessed for intracellular IFN-γ, TNF, IL-10, IL-17a or IL-22 secretion as monofunctional or polyfunctional T cells (simultaneous cytokine secretion) by flow cytometry. RESULTS: We found increased expression of the exhaustion marker PD-1 on effector memory CD4(+) T cells (CD45RA(-)CCR7(-)) in the peripheral blood and increased expression of CD38 in terminally differentiated CD8(+) T cells (CD45RA(+)CCR7(-)). Furthermore, a decreased frequency of naïve regulatory T cells (CD45RA(+)Foxp3(low)), but not of activated regulatory T cells (CD45RA(-)Foxp3(high)) was detected in CVID patients with splenomegaly, the non-infectious manifestation in this CVID cohort (43.7 %). Moreover, the frequency of peripheral blood follicular helper T cells (CD3(+)CD4(+)CXCR5(+)PD-1(+)ICOS(+)) was similar between the CVID and control groups. Upon in vitro TLR3 activation, a decreased frequency of CD8(+) T cells secreting IFN-γ, IL-17a or IL-22 was detected in the CVID group compared to the control group. However, a TLR7/TLR8 agonist and staphylococcal enterotoxin B induced an increased Th22/Tc22 (IL-22(+), IFN-γ(-), IL-17a(-)) response in CVID patients. Both TLR2 and TLR7/8/CL097 activation induced an increased response of CD4(+) T cells secreting three cytokines (IL-17a, IL-22 and TNF)in CVID patients, whereas CD8(+) T cells were unresponsive to these stimuli. CONCLUSION: The data show that despite the unresponsive profile of CD8(+) T cells to TLR activation, CD4(+) T cells and Tc22/Th22 cells are responsive, suggesting that activation of innate immunity by TLRs could be a strategy to stimulate CD4(+) T cells in CVID.

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B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.C118Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant. In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect.

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OBJECTIVES: The aim of this cross-sectional study was to evaluate whether interleukin 10 (IL10) and transforming growth factor ß1 (TGFß1) gene polymorphisms were associated with persistent IgE-mediated cow's milk allergy in 50 Brazilian children. The diagnostic criteria were anaphylaxis triggered by cow's milk or a positive double-blind, placebo-controlled food challenge. Tolerance was defined as the absence of a clinical response to a double-blind, placebo-controlled food challenge or cow's milk exposure. METHOD: The genomic DNA of the 50 patients and 224 healthy controls (HCs) was used to investigate five IL10 gene polymorphisms (-3575A/T, -2849A/G, -2763A/C, -1082G/A, -592C/A) and one TGFß1 polymorphism (-509C/T). RESULTS: Among the five IL10 polymorphisms analyzed, homozygosis for the G allele at the -1082 position was significantly higher in the patients compared with the healthy controls (p=0.027) and in the persistent cow's milk allergy group compared with the healthy controls (p=0.001). CONCLUSIONS: Homozygosis for the G allele at the IL10 -1082G/A polymorphism is associated with the persistent form of cow's milk allergy.

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OBJECTIVE: To relate obesity and asthma by comparing gender, age, initial classification of asthma, clinical control, basal forced expiratory volume in one second (FEV1) and forced expiratory flow between 25 and 75% (FEF25-75%) with rates of body mass index (BMI) in asthmatic adolescents. METHODS: Cross-sectional study involving 120 asthmatics patients (1.9 male: 1 female) with a mean age of 14.1 years (9 to 20.1 years of age), classified according to asthma severity and control, and evaluated by spirometry using their basal FEV1 and FEF25-75%. The data were described by frequency, mean and standard deviation or median and range and analyzed by ANOVA, unpaired t test, Fischer's exact test, Kruskal-Wallis and Pearson's correlation, considering significant p<0.05. RESULTS: There was no difference between gender in relation to the initial classification and the level of asthma control; 91.7% (100 cases) received initial classification as persistent and 106 cases (88.3%) were partially or totally controlled. There was no statistical difference between controlled patients and the others in relation to BMI. No significant correlations were found between zBMI and FEV1 and between zBMI and FEF25-75%, analyzing all patients and only patients with overweight or obese. CONCLUSIONS: In this study, no significant correlation was found between overweight/obesity and asthma using clinical, anthropometric and spirometric parameters.

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OBJECTIVES: The aim of this cross-sectional study was to evaluate whether interleukin 10 (IL10) and transforming growth factor β1 (TGFβ1) gene polymorphisms were associated with persistent IgE-mediated cow's milk allergy in 50 Brazilian children. The diagnostic criteria were anaphylaxis triggered by cow's milk or a positive double-blind, placebo-controlled food challenge. Tolerance was defined as the absence of a clinical response to a double-blind, placebo-controlled food challenge or cow's milk exposure. METHOD: The genomic DNA of the 50 patients and 224 healthy controls (HCs) was used to investigate five IL10 gene polymorphisms (-3575A/T, -2849A/G, -2763A/C, -1082G/A, -592C/A) and one TGFβ1 polymorphism (-509C/T). RESULTS: Among the five IL10 polymorphisms analyzed, homozygosis for the G allele at the -1082 position was significantly higher in the patients compared with the healthy controls (p = 0.027) and in the persistent cow's milk allergy group compared with the healthy controls (p = 0.001). CONCLUSIONS: Homozygosis for the G allele at the IL10 -1082G/A polymorphism is associated with the persistent form of cow's milk allergy. .

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OBJETIVO: Avaliar a associação entre obesidade e asma pela comparação entre idade, gênero, classificação inicial e controle da asma, valores de volume expiratório forçado no primeiro segundo (VEF1) e fluxo expiratório forçado entre 25 e 75% (FEF25-75%) basais com os índices de massa corpórea (IMC) em adolescentes asmáticos. MÉTODOS: Estudo transversal envolvendo 120 pacientes (1,9 masculino:1 feminino) asmáticos com mediana de idade de 14,1 anos (9 a 20,1 anos), classificados quanto ao controle e gravidade da asma e avaliados pela espirometria utilizando VEF1 e FEF25-75% basais. Esses dados foram descritos pela frequência, médias e desvio padrão ou medianas e variação, sendo analisados pelos testes de ANOVA, teste t não pareado, teste exato de Fisher, Kruskal-Wallis e pela correlação de Pearson, considerando-se significante p<0,05. RESULTADOS: Não houve diferença entre os gêneros em relação à classificação inicial da asma e ao nível de controle. Receberam classificação inicial persistente 91,7% (100 casos), sendo que 106 casos (88,3%) encontravam-se parcial ou totalmente controlados. Não houve diferença estatística entre os pacientes controlados e os demais em relação ao IMC. Não foram encontradas correlações significantes entre zIMC e VEF1 e entre zIMC e FEV25-75%, analisando-se todos os pacientes e apenas pacientes com sobrepeso ou obesos. CONCLUSÕES: Neste estudo, não foi encontrada correlação significante entre sobrepeso/obesidade e asma, utilizando-se parâmetros clínicos, antropométricos e espirométricos.

OBJECTIVE: To relate obesity and asthma by comparing gender, age, initial classification of asthma, clinical control, basal forced expiratory volume in one second (FEV1) and forced expiratory flow between 25 and 75% (FEF25-75%) with rates of body mass index (BMI) in asthmatic adolescents. METHODS: Cross-sectional study involving 120 asthmatics patients (1.9 male: 1 female) with a mean age of 14.1 years (9 to 20.1 years of age), classified according to asthma severity and control, and evaluated by spirometry using their basal FEV1 and FEF25-75%. The data were described by frequency, mean and standard deviation or median and range and analyzed by ANOVA, unpaired t test, Fischer's exact test, Kruskal-Wallis and Pearson's correlation, considering significant p​​​​<0.05. RESULTS: There was no difference between gender in relation to the initial classification and the level of asthma control; 91.7% (100 cases) received initial classification as persistent and 106 cases (88.3%) were partially or totally controlled. There was no statistical difference between controlled patients and the others in relation to BMI. No significant correlations were found between zBMI and FEV1 and between zBMI and FEF25-75%, analyzing all patients and only patients with overweight or obese. CONCLUSIONS: In this study, no significant correlation was found between overweight/obesity and asthma using clinical, anthropometric and spirometric parameters.

OBJETIVO: Evaluar la asociación entre obesidad y asma por la comparación entre edad, género, clasificación inicial y control del asma, valores de volumen espiratorio forzado en el primer segundo (VEF1) y flujo espiratorio forzado entre 25 y 75% basal (FEF25-75%) con los índices de masa corporal (IMC) en adolescentes asmáticos. MÉTODOS: Estudio transversal implicando a 120 pacientes (1,9M:1F) asmáticos con mediana de edad de edad de 14,1 años (9 a 20,1 años), clasificados respecto al control y gravedad del asma, y evaluados por la espirometría utilizando su VEF1 y FEF25-75% basales. Estos datos fueron descriptos por la frecuencia, promedios y desviaciones estándar o medianas y variación y analizados por las pruebas de ANOVA, prueba t no pareada, Prueba exacto de Fisher, Kruskal-Wallis y por la correlación de Pearson considerándose significantes valores de p<0,05. RESULTADOS: No hubo diferencia entre los géneros respecto a la clasificación inicial del asma y el nivel de control. Recibieron clasificación inicial persistente 91,7% (100 casos), siendo que 106 casos (88,3%) estaban parcial o totalmente controlados. No hubo diferencia estadística entre los pacientes controlados y los restantes respecto al IMC. No se encontraron correlaciones significantes entre zIMC y VEF y entre zIMC y FEF25-75% al analizar todos los pacientes y solamente los pacientes con sobrepeso u obesos. CONCLUSIONES: En este estudio, no fue encontrada correlación significante entre sobrepeso/obesidad y asma, utilizándose parámetros clínicos, antropométricos y espirométricos.

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Este estudo qualitativo teve como objetivo compreender as percepções de familiares de crianças e adolescentes com alergia à proteína do leite de vaca (APLV) em relação à doença e seu tratamento. Foram realizadas nove entrevistas e foi utilizado o método de análise de conteúdo. Surgiram três categorias com subcategorias: tratamento e educação do paciente e familiare(experiências vividas, base do tratamento e como lidar com a doença), resolução da doença (expectativa e melhoragradativa), qualidade de vida (inclusão social, cotidiano familiar e custo dos alimentos). Os familiares vivenciaram dificuldades durante o início do tratamento, mas revelaram que as orientações fornecidas no seguimento tornaram as adaptações à doença mais fáceis. Comentaram sobre as dificuldades em obter a colaboração de outros membros da família em relação à dieta de exclusão, suas experiências frente a uma reação alérgica, dúvidas quanto ao tratamento e lacunas do conhecimento sobre adoença entre outros médicos e na população em geral. Alguns deles acreditavam que não havia tratamento para a APLV, porque não existiam medicamentos ou vacinas, mas mantinham a esperança da descoberta de uma cura. A maioria dos familiares estava satisfeita com a melhora gradativa dos seus filhos, percebida pela redução da gravidade dos sintomas e tolerância a traços de leite. Também comentaram sobre os esforços em proporcionar uma vida normal para seus filhos, as mudanças em suas vidas e a dificuldade em comprar alimentos especiais. Em conclusão, os familiares de crianças e adolescentes com APLV sentem grande impacto da doença.

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The aim of this qualitative study was to understand the perceptions of caregivers of children and adolescents with cow's milk allergy regarding the disease and its treatment. Nine caregivers were interviewed and content analysis method was used. Three categories with subcategories emerged: treatment and education of the patient and their caregivers (life experiences, bases of treatment, coping with the disease), resolution of the disease (hope, gradual improvement), quality of life (social inclusion, family daily activities, costs of dietary treatment). Caregivers experienced difficulties during the initial treatment but pointed out that the guidance given during follow-up made the adjustments easier. Family members commented on the difficulties about lack of cooperation from other family members regarding the restrictive diet, their experience coping with the allergic reaction, doubts about the treatment and gaps on knowledge about the disease by other physicians and people. Some of them believed that there is no treatment for the disease, because there are no drugs or vaccines, but they were waiting for cure. The majority of relatives were satisfied with the gradual improvement of patients observed by reduction on the severity of symptoms and tolerance of milk traces within foods. In addition, they commented on the efforts to give a normal life for their children, the changes in their daily lives and the difficulty to buy special products. Concluding, caregivers of children and adolescents with cow's milk allergy feel a great burden of the disease.(AU)

Este estudo qualitativo teve como objetivo compreender as percepções de familiares de crianças e adolescentes com alergia à proteína do leite de vaca (APLV) em relação à doença e seu tratamento. Foram realizadas nove entrevistas e foi utilizado o método de análise de conteúdo. Surgiram três categorias com subcategorias: tratamento e educação do paciente e familiares (experiências vividas, base do tratamento e como lidar com a doença), resolução da doença (expectativa e melhora gradativa), qualidade de vida (inclusão social, cotidiano familiar e custo dos alimentos). Os familiares vivenciaram dificuldades durante o início do tratamento, mas revelaram que as orientações fornecidas no seguimento tornaram as adaptações à doença mais fáceis. Comentaram sobre as dificuldades em obter a colaboração de outros membros da família em relação à dieta de exclusão, suas experiências frente a uma reação alérgica, dúvidas quanto ao tratamento e lacunas do conhecimento sobre a doença entre outros médicos e na população em geral. Alguns deles acreditavam que não havia tratamento para a APLV, porque não existiam medicamentos ou vacinas, mas mantinham a esperança da descoberta de uma cura. A maioria dos familiares estava satisfeita com a melhora gradativa dos seus filhos, percebida pela redução da gravidade dos sintomas e tolerância a traços de leite. Também comentaram sobre os esforços em proporcionar uma vida normal para seus filhos, as mudanças em suas vidas e a dificuldade em comprar alimentos especiais. Em conclusão, os familiares de crianças e adolescentes com APLV sentem grande impacto da doença.(AU)

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Este estudo qualitativo teve como objetivo compreender as percepções de familiares de crianças e adolescentes com alergia à proteína do leite de vaca (APLV) em relação à doença e seu tratamento. Foram realizadas nove entrevistas e foi utilizado o método de análise de conteúdo. Surgiram três categorias com subcategorias: tratamento e educação do paciente e familiare(experiências vividas, base do tratamento e como lidar com a doença), resolução da doença (expectativa e melhoragradativa), qualidade de vida (inclusão social, cotidiano familiar e custo dos alimentos). Os familiares vivenciaram dificuldades durante o início do tratamento, mas revelaram que as orientações fornecidas no seguimento tornaram as adaptações à doença mais fáceis. Comentaram sobre as dificuldades em obter a colaboração de outros membros da família em relação à dieta de exclusão, suas experiências frente a uma reação alérgica, dúvidas quanto ao tratamento e lacunas do conhecimento sobre adoença entre outros médicos e na população em geral. Alguns deles acreditavam que não havia tratamento para a APLV, porque não existiam medicamentos ou vacinas, mas mantinham a esperança da descoberta de uma cura. A maioria dos familiares estava satisfeita com a melhora gradativa dos seus filhos, percebida pela redução da gravidade dos sintomas e tolerância a traços de leite. Também comentaram sobre os esforços em proporcionar uma vida normal para seus filhos, as mudanças em suas vidas e a dificuldade em comprar alimentos especiais. Em conclusão, os familiares de crianças e adolescentes com APLV sentem grande impacto da doença.(AU)

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OBJETIVO:Descrever os dados epidemiológicos, clínicos e os fatores associados ao controle da asma em pacientes asmáticos seguidos em um ambulatório pediátrico especializado. MÉTODOS: Estudo transversal de pacientes asmáticos ambulatoriais, para os quais eram fornecidas medicações profiláticas. A classificação da asma, as etapa de tratamento e a avaliação do controle seguiram a IV Diretrizes Brasileiras para o Manejo da Asma, de 2006. Os fatores avaliados foram: outras alergias, obesidade, imunodeficiências, refluxo gastresofágico e sensibilização alérgica, sendo comparados pacientes com asma controlada ou não com relação à etapa do tratamento, à obesidade e à sensibilização alérgica. RESULTADOS: Foram analisados 300 pacientes com asma (1,38M:1F), com mediana de idade de 10,8 anos, e de início dos sintomas de 1,0 ano. A atopia estava presente em 78 por cento dos pais e/ou irmãos. Antecedentes pessoais de doenças alérgicas ocorreram em 292 pacientes (96 por cento rinite, 27 por cento dermatite atópica, 18 por cento conjuntivite alérgica, 6 por cento alergia alimentar). Foram diagnosticados sete casos de deficiência de IgA (DIgA) e quatro de IgG2; obesidade em 37/253 (15 por cento), sendo que sobrepeso e obesidade estiveram associados à falta de controle (p=0,023). Em 118 pacientes com multissensibilização, predominaram casos não controlados (22 (19 por cento) casos; p=0,049; OR 1,9; IC95 por cento 1,03-3,50). Entre os 180 casos (60 por cento) em tratamento nas etapas 3 e 4, 122 (45 por cento) estavam controlados e 112 (41 por cento) parcialmente controlados. CONCLUSÕES: A rinite foi a alergia mais associada à asma e a prevalência de DIgA foi 20 vezes maior do que na população geral. O controle parcial ou total dos sintomas da asma foi obtido em 85 por cento dos casos. Obesidade/sobrepeso e multissensibilização foram associadas à falta de controle da asma.

OBJECTIVE:To describe the epidemiological and clinical data and factors associated with asthma control of asthmatic patients followed at a pediatric reference center. METHODS: Cross-sectional study including asthmatic outpatients receiving prophylactic medications from the institution. For classification of asthma, steps of treatment and control evaluation, the IV Brazilian Guidelines for the Management of Asthma (2006) were adopted. The presence of other allergies, obesity, immunodeficiency, gastroesophageal reflux and allergic sensitization were evaluated and compared between patients with or without asthma control according to the treatment step, obesity and allergic sensitization. RESULTS: 300 patients with asthma (1.38M:1F) were included; median age=10.8 years; median age at onset of symptoms=1.0 year. Among parents and/or siblings, 78 percent reported atopy. Personal history showed other allergic diseases in 292 patients (96 percent rhinitis, 27 percent atopic dermatitis, 18 percent allergic conjunctivitis, 6 percent food allergy). IgA deficiency was diagnosed in seven cases and IgG2 deficiency in four. Obesity was noted in 34/233 patients (15 percent) and overweight/obesity were associated with asthma poor control (p<0.023). Among 118 patients multisensitizated, the frequency of poor asthma control was greater (22 (19 percent) cases; p=0.049, OR 1.9; 95 percentCI 1.03-3.50). Among the patients, 180 (60 percent) were treated according steps 3 and 4; 122 children (45 percent) were considered controlled and 112 (41 percent) were partially controlled. CONCLUSIONS: Allergic rhinitis was the allergic disease more associated with asthma. The prevalence of IgA deficiency was 20 times higher than in the general population. Total or partial control of asthma symptoms was obtained in 85 percent of the cases. Overweight/obesity and multisensitization were associated to poor asthma control.

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Objective: To report the experience of a tertiary care hospital with allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies. Methods: Seven pediatric patients with primary immunodeficiencies (severe combined immunodeficiency: n = 2; combined immunodeficiency: n = 1; chronic granulomatous disease: n = 1; hyper-IgM syndrome: n = 2; and IPEX syndrome: n = 1) who underwent eight hematopoietic stem cell transplants in a single center, from 2007 to 2010, were studied. Results: Two patients received transplants from HLA-identical siblings; the other six transplants were done with unrelated donors (bone marrow: n = 1; cord blood:n = 5). All patients had pre-existing infections before hematopoietic stem cell transplants. One patient received only anti-thymocyte globulin prior to transplant, three transplants were done with reduced intensity conditioning regimens and four transplants were done after myeloablative therapy. Two patients were not evaluated for engraftmentdue to early death. Three patients engrafted, two had primary graft failure and one received a second transplant with posterior engraftment. Two patients died of regimen related toxicity (hepatic sinusoidal obstruction syndrome); one patient died of progressive respiratory failure due to Parainfluenza infection present prior to transplant. Four patients are alive and well from 60 days to 14 months after transplant. Conclusion: Patients' status prior to transplant is the most important risk factor on the outcome of hematopoietic stem cell transplants in the treatment of these diseases. Early diagnosis and the possibility of a faster referral of these patients for treatment in reference centers may substantially improve their survival and quality of life.

Objetivo: Relatar a experiência de um hospital terciário no tratamento de pacientes pediátricos com imunodeficiências primárias com transplante de células-tronco hematopoéticas. Métodos: De 2007 a 2010, foram realizados oito transplantes em sete pacientes pediátricos com imunodeficiências primárias: imunodeficiência combinada grave (n = 2); imunodeficiência combinada (n = 1); doença granulomatosa crônica (n = 1); síndrome hiper-IgM (n = 2); síndrome IPEX (n=1). Resultados: Dois pacientes foram transplantados com medula óssea de irmãos HLA-idênticos; seis transplantes foram feitos com doadores não aparentados (medula óssea: n = 1; sangue de cordão umbilical: n = 5). Todos os pacientes haviam tido episódios de infecção grave previamente ao tratamento. Um paciente recebeu apenas globulina antitimocítica antes do transplante de células-tronco hematopoéticas, três transplantes foram feitos com quimioterapia de intensidade reduzida e quatro após quimioterapia mieloablativa. Dois pacientes morreram precocemente e não foram avaliados em relação à enxertia. Três pacientes tiveram enxertia completa, dois evoluíram com falha primária de pega, um deles recebeu um segundo transplante com pega do enxerto. Dois pacientes morreram de toxicidade do transplante (síndrome da obstrução sinusoidal hepática), um paciente morreu de insuficiência respiratória por infecção por parainfluenza já existente antes do transplante. Quatro pacientes estão vivos e bem entre 60 dias e 14 meses após o transplante. Conclusão: A condição do paciente ao transplante é o fator mais importante no sucesso do tratamento. O diagnóstico precoce dos pacientes e a possibilidade de encaminhá-los mais rapidamente para tratamento em centros de referência podem melhorar substancialmente a sobrevida e a qualidade de vida deles.

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In human toxocariasis, there are few approaches using immunological markers for diagnosis and therapeutic assessment. An immunoblot (IB) assay using excretory-secretory Toxocara canis antigen was standardized for monitoring IgG, IgE and IgA antibodies in 27 children with toxocariasis (23 visceral, three mixed visceral and ocular, and one ocular form) for 22-116 months after chemotherapy. IB sensitivity was 100% for IgG antibodies to bands of molecular weight 29-38, 48-54, 95-116, 121-162, >205 kDa, 80.8% for IgE to 29-38, 48-54, 95-121, > 205 kDa, and 65.4% for IgA to 29-38, 48-54, 81-93 kDa. Candidates for diagnostic markers should be IgG antibodies to bands of low molecular weight (29-38 and 48-54 kDa). One group of patients presented the same antibody reactivity to all bands throughout the follow-up study; in the other group, antibodies decayed partially or completely to some or all bands, but these changes were not correlated with time after chemotherapy. Candidates for monitoring patients after chemotherapy may be IgG antibodies to > 205 kDa fractions, IgA to 29-38, 48-54, 81-93 kDa and IgE to 95-121 kDa. Further identification of antigen epitopes related to these markers will allow the development of sensitive and specific immunoassays for the diagnosis and therapeutic assessment of toxocariasis.

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In human toxocariasis, there are few approaches using immunological markers for diagnosis and therapeutic assessment. An immunoblot (IB) assay using excretory-secretory Toxocara canis antigen was standardized for monitoring IgG, IgE and IgA antibodies in 27 children with toxocariasis (23 visceral, three mixed visceral and ocular, and one ocular form) for 22-116 months after chemotherapy. IB sensitivity was 100 percent for IgG antibodies to bands of molecular weight 29-38, 48-54, 95-116, 121-162, >205 kDa, 80.8 percent for IgE to 29-38, 48-54, 95-121, > 205 kDa, and 65.4 percent for IgA to 29-38, 48-54, 81-93 kDa. Candidates for diagnostic markers should be IgG antibodies to bands of low molecular weight (29-38 and 48-54 kDa). One group of patients presented the same antibody reactivity to all bands throughout the follow-up study; in the other group, antibodies decayed partially or completely to some or all bands, but these changes were not correlated with time after chemotherapy. Candidates for monitoring patients after chemotherapy may be IgG antibodies to > 205 kDa fractions, IgA to 29-38, 48-54, 81-93 kDa and IgE to 95-121 kDa. Further identification of antigen epitopes related to these markers will allow the development of sensitive and specific immunoassays for the diagnosis and therapeutic assessment of toxocariasis.

Métodos imunológicos desempenham papel importante no diagnóstico da toxocaríase, entretanto há poucos estudos sobre marcadores diagnósticos e de acompanhamento terapêutico. Foi padronizado ensaio de immunoblot (IB) empregando antígeno de excreção-secreção de Toxocara canis para pesquisa de anticorpos IgG, IgE e IgA em 27 crianças com toxocaríase nas formas visceral (23), mista visceral e ocular (3) e ocular (1), por 22-116 meses após quimioterapia. Foram observados dois perfis de reatividade dos anticorpos: permanência contra todas as frações no decorrer do estudo; diminuição ou negativação contra algumas ou todas as frações, porém, essas mudanças não se correlacionaram com tempo de tratamento. A sensibilidade do IB foi 100,0 por cento para anticorpos IgG específicos para frações de massa molecular de 29-38, 48-54, 95-116, 121-162, > 205 kDa, 80,8 por cento para IgE específicos para 29-38, 48-54, 95-121, > 205 kDa e 65,4 por cento para IgA específicos para 29-38, 48-54, 81-93 kDa. Anticorpos IgG específicos para frações de baixa MM (29-38 e 48-54 kDa) podem ser sugeridos como candidatos a marcadores diagnósticos. Por sua vez, anticorpos IgG para fração > 205 kDa, IgA para 29-38, 48-54, 81-93 kDa e IgE para 95-121 kDa podem ser candidatos a marcadores terapêuticos. A identificação de epítopos antigênicos relacionados a estes marcadores poderá ser importante para o desenvolvimento de ensaios altamente sensíveis e específicos no diagnóstico e avaliação terapêutica da toxocaríase.

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BACKGROUND: Peripheral muscle strength and endurance are decreased in patients with chronic pulmonary diseases and seem to contribute to patients' exercise intolerance. However, the authors are not aware of any studies evaluating peripheral muscle function in children with asthma. It seems to be implied that children with asthma have lower aerobic fitness, but there are limited studies comparing the aerobic capacity of children with and without asthma. The present study aimed to evaluate muscle strength and endurance in children with persistent asthma and their association with aerobic capacity and inhaled corticosteroid consumption. METHODS: Forty children with mild persistent asthma (MPA) or severe persistent asthma (SPA) (N=20 each) and 20 children without asthma (control group) were evaluated. Upper (pectoralis and latissimus dorsi) and lower (quadriceps) muscle strength and endurance were assessed, and cardiopulmonary exercise testing was performed. Inhaled corticosteroid consumption during the last 6 and 24 months was also quantified. RESULTS: Children with SPA presented a reduction in peak oxygen consumption (VO(2)) (28.2±8.1 vs 34.7±6.9 ml/kg/min; p<0.01) and quadriceps endurance (43.1±6.7 vs 80.9±11.9 repetitions; p<0.05) compared with the control group, but not the MPA group (31.5±6.1 ml/kg/min and 56.7±47.7 repetitions respectively; p>0.05). Maximal upper and lower muscle strength was preserved in children with both mild and severe asthma (p>0.05). Finally, the authors observed that lower muscle endurance weakness was not associated with reductions in either peak VO(2) (r=0.22, p>0.05) or corticosteroid consumption (r=-0.31, p>0.05) in children with asthma. CONCLUSION: The findings suggest that cardiopulmonary exercise and lower limb muscle endurance should be a priority during physical training programs for children with severe asthma.

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OBJECTIVE: To report the experience of a tertiary care hospital with allogeneic hematopoietic stem cell transplantation in children with primary immunodeficiencies. METHODS: Seven pediatric patients with primary immunodeficiencies (severe combined immunodeficiency: n = 2; combined immunodeficiency: n = 1; chronic granulomatous disease: n = 1; hyper-IgM syndrome: n = 2; and IPEX syndrome: n = 1) who underwent eight hematopoietic stem cell transplants in a single center, from 2007 to 2010, were studied. RESULTS: Two patients received transplants from HLA-identical siblings; the other six transplants were done with unrelated donors (bone marrow: n = 1; cord blood: n = 5). All patients had pre-existing infections before hematopoietic stem cell transplants. One patient received only anti-thymocyte globulin prior to transplant, three transplants were done with reduced intensity conditioning regimens and four transplants were done after myeloablative therapy. Two patients were not evaluated for engraftment due to early death. Three patients engrafted, two had primary graft failure and one received a second transplant with posterior engraftment. Two patients died of regimen related toxicity (hepatic sinusoidal obstruction syndrome); one patient died of progressive respiratory failure due to Parainfluenza infection present prior to transplant. Four patients are alive and well from 60 days to 14 months after transplant. CONCLUSION: Patients' status prior to transplant is the most important risk factor on the outcome of hematopoietic stem cell transplants in the treatment of these diseases. Early diagnosis and the possibility of a faster referral of these patients for treatment in reference centers may substantially improve their survival and quality of life.

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INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. OBJECTIVES: To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. RESULTS: Of 14 patients (8m - 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n=2). CONCLUSION: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.

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Justificativa: Alergia à leite de vaca (ALV) afeta 2,5% das crianças menores de 3 anos, sendo que a maioria dos pacientes desenvolvem tolerância até 3 anos de idade. No entanto, na ALV IgE-mediada cerca de 35% desses pacientes persistem sintomáticos. O objetivo deste estudo foi determinar se polimorfismos no gene que codifica a IL-lO estariam associados à ALV persistente mediada por IgE em crianças brasileiras com cinco anos. Métodos: Neste estudo, 50 pacientes com ALV com idade de 5 anos foram avaliados, sendo 36 persistentes e 14 tolerantes. Um grupo controle composto por 224 indivíduos saudáveis foi incluído no estudo. Os critérios de diagnóstico foram: anafilaxia desencadeada pelo leite de vaca (LV) ou reação clínica imediata para o Teste Duplo Cego Placebo Controlado (DCPC). A tolerância foi definida como a ausência de resposta clínica ao DBPC ou durante a exposição acidental ao LV. Os dados utilizados na análise dos resultados clínicos e laboratoriais foram aqueles na época do diagnóstico. Todos os pacientes e os controles foram avaliados pelo PCR-RFLP para os seguintes polimorfismos de IL-lO: -3575A/T, -2849A/G, -763A/C, 592C/A e pelo PCR-SSP para o polimorfismo IL-lO -1082G/A. Resultados: Houve diferença estatisticamente significante apenas para o polimorfismo IL-l0 -1082G/A, sendo a homozigose para o alelo A estatisticamente significante comparando-se pacientes do grupo ALV total versus grupo controles (p = 0,027) e a homozigose para o alelo G entre grupo persistente versus grupo controle (p = 0,001). Conclusão: Nos pacientes avaliados, o polimorfismo de IL-lO 1082G/A foi associado ao fenótipo da ALV persistente.

Rationale: Cow's milk allergy (CMA) affects 2.5% of children under 3 years and the majority of patients develop tolerance at age 3. However, in IgE-mediate CMA about 35% of them persist symptomatic. The aim of this study is to determine if interleukin 10 (IL-l0) gene polymorphisms are associated to persistent IgE-mediated CMA in Brazilian children at age five. Methods: In this study, 50 IgE-mediated CMA patients were evaluated at age 5, being 36 persistent and 14 tolerant to cow's milk (CM). A control group with 224 healthy individuals was included. The diagnosis criteria were: anaphylaxis triggered by CM or immediate clinical reaction to double blind placebo control test (DBPCT). The tolerance was defined as the absence of clinical response to the DBPCT or during the accidental exposure to CM. The data used about clinical and laboratorial findings were from the diagnosis work up. All patients and the controls were typed by PCR-RFLP for the following IL-l0 polymorphisms: -3575A/T, -2849A/G, -763A/C, -592C/A and by SSP for -1082G/A. Results: There was differences statistically significant only for IL-lO polymorphisms -1082G/A. Homozygosis to A allele was statistically significant comparing CMA total patients with controls (p = 0.027) and homozygosis to G allele between persistent group versus control group (p = 0.001). Conclusion: In these patients evaluated the IL-lO -1082G/A polymorphism was associated to CMA persistent phenotype.

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INTRODUCTION: The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. It is characterized by hypocalcemia due to hypoparathyroidism, heart defects, and thymic hypoplasia or aplasia. Its incidence is 1:3000 live births and, despite its high frequency, little is known about its natural history and progression. ←This is probably due to diagnostic difficulties and the great variety of names used to describe it, such as velocardiofacial, Shprintzen, DiGeorge, and CATCH 22 Syndromes, as well as conotruncal facial anomaly. All represent the same genetic condition, chromosome 22q11.2 deletion, which might have several clinical expressions. OBJECTIVES: To describe clinical and laboratorial data and phenotypic characteristics of patients with DiGeorge Syndrome. METHODS: Patients underwent standard clinical and epidemiological protocol and tests to detect heart diseases, facial abnormalities, dimorphisms, neurological or behavioral disorders, recurrent infections and other comorbidities. RESULTS: Of 14 patients (8m - 18y11m), only one did not have 22q11.2 deletion detected. The main findings were: conotruncal malformation (n = 12), facial abnormalities (n = 11), hypocalcemia (n = 5) and low lymphocyte count (n=2). CONCLUSION: The authors pointed out the necessity of DGS suspicion in all patient presenting with heart defects, facial abnormalities (associated or not with hypocalcemia), and immunological disorders because although frequency of DGS is high, few patients with a confirmed diagnosis are followed up.

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OBJETIVO: Avaliar a capacidade de identificação dos termos relacionados ao leite de vaca em rótulos de produtos industrializados por familiares de pacientes com alergia à bebida. MÉTODOS: Estudo transversal, descritivo, baseado em entrevista com familiares de pacientes. Inicialmente, aplicou-se um questionário sobre o hábito de leitura de rótulos e identificação de termos relacionados ao leite e, posteriormente, apresentaram-se rótulos de 12 produtos industrializados para que os familiares decidissem sobre a sua exclusão da dieta do paciente. RESULTADOS: Dos 52 entrevistados, 80,8 por cento eram mães e 79,0 por cento apresentavam nível médio ou superior de escolaridade. A mediana do tempo em seguimento já com orientação para dieta de exclusão era de dois anos e sete meses (três meses a 17 anos e seis meses). A leitura habitual de rótulos de alimentos, medicamentos e cosméticos foi relatada por 57,7 por cento, 59,6 por cento e 46,2 por cento dos familiares, respectivamente. Entre as reações alérgicas ocorridas no seguimento, 39,5 por cento foram relacionadas a erros na leitura de rótulos. Lactose, caseína e caseinato foram os termos identificados por 92,3 por cento, 38,5 por cento e 23,1 por cento dos familiares, respectivamente. Lactato foi interpretado como presença de leite de vaca por 51,9 por cento dos entrevistados. Na segunda etapa, os familiares identificaram a lactose (55,8 por cento), a caseína (26,9 por cento) e o caseinato (5,8 por cento) como substâncias relacionadas ao leite. CONCLUSÕES: Constatou-se deficiente compreensão e identificação, por parte dos pais, dos termos relacionados ao leite apesar das orientações recebidas. É fundamental a adequação da rotulagem e a adoção de novas estratégias para orientação da leitura de rótulos, possibilitando a busca e a identificação de produtos que contenham leite de vaca.

OBJECTIVE: To evaluate the ability of relatives of patients with cow's milk allergy to identify terms related to cow's milk on labels of manufactured products. METHODS: Cross-sectional descriptive study based on interviews with relatives of patients with cow's milk allergy. Initially, a questionnaire about the habit of reading labels and the identification of terms related to cow's milk was applied. Next, 12 original labels of manufactured products were shown to the interviewees so that they could decide whether to exclude or not those products from the patient's diet. RESULTS: Of the 52 interviewees, 80.8 percent were mothers and 79.0 percent had at least 8 years of schooling. The median time of follow-up after receiving information about exclusion diet was 2 years and 7 months (from 3 months to 17 years and 6 months). The habit of reading labels of foods, drugs and cosmetics was reported by 57.7, 59.6, and 46.2 percent of the relatives, respectively. Among the allergic reactions during follow-up, 39.5 percent were related to mistakes when reading labels. Lactose, casein, and caseinate were the terms identified by 92.3, 38.5, and 23.1 percent of the family members, respectively. Lactate was interpreted as presence of cow's milk by 51.9 percent of the interviewees. During the second phase of the study, family members identified lactose (55.8 percent), casein (26.9 percent) and caseinate (5.8 percent) as related to cow's milk. CONCLUSION: There was a deficient understanding and identification of cow's milk-related terms in spite of previous counseling. It is important to improve labels and to establish new strategies that allow lay people to identify labels of products containing cow's milk.

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OBJETIVO: Apresentar uma revisão bibliográfica sobre o uso de repelentes de insetos em crianças, com ênfase especial na proteção contra mosquitos. FONTES DE DADOS: Realizou-se uma pesquisa bibliográfica nas bases de dados Pubmed e Lilacs, cujos artigos incluíam produtos comercialmente disponíveis no Brasil. Foram selecionados artigos publicados nos últimos dez anos em língua inglesa ou portuguesa, referentes a crianças, obtidos com as seguintes palavras-chave: "insect repellents", "children", "mosquitoes", "N,N-dietil-metatoluamida (DEET)". SÍNTESE DOS DADOS: Entre os repelentes tópicos, DEET, icaridina e óleo natural de eucalipto-limão apresentam, em concentrações adequadas, perfil de segurança favorável e são eficazes na prevenção de picadas de mosquitos em crianças e adultos. Em geral, são indicados para crianças acima de dois anos de idade. Medidas físicas são fundamentais para proteger lactentes jovens, especialmente menores de seis meses, com destaque para o uso de telas com permetrina. CONCLUSÕES: Os mosquitos são vetores de doenças infectoparasitárias que acometem, anualmente, milhões de pessoas no mundo e causam milhares de mortes. O combate aos mosquitos inclui medidas ambientais e de proteção individual. O uso de repelentes tópicos para proteção individual da criança exige cuidados específicos e conhecimento quanto ao produto ideal para cada idade, especialmente quando consideradas sua eficácia e segurança.

OBJECTIVE: To present a literature review about the use of insect repellents on children, highlighting the protection against mosquitoes. DATA SOURCES: Pubmed and Lilacs databases were searched for articles in English and Portuguese published in the last ten years with the following key-words: "insect repellents", "children", "mosquitoes", "N,N-dietil-metatoluamida (DEET)". DATA SYNTHESIS: Concerning topical repellents, DEET, icaridine and natural oil of lemon eucalyptus are effective to prevent mosquito bites in children and adults and have favorable safety profile when used in appropriate concentration. They are generally recommended for children older than two years-old. Physical barriers are essential for infant protection, especially if they are six months old or less, with special interest in the permethrin-treated nets. CONCLUSIONS: Mosquitoes are vectors of a variety of infectious and parasitic diseases which annually affect millions of people and cause thousands of deaths worldwide. The combat to mosquitoes includes individual and environmental measures. Topic repellents for children's individual protection demand specific handling attention and knowledge about the ideal product for each age, especially regarding their efficacy and safety.

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