RESUMO Objetivo: Descrever o desenvolvimento de um website e a criação de uma conta em rede social sobre alergologia/imunologia pediátrica com informações confiáveis, para promover educação e ter um canal de contato paciente-médico. Métodos: Trata-se de um estudo descritivo. Um questionário foi aplicado a 93 pacientes (12 anos de idade ou mais) e cuidadores frequentadores de um ambulatório de alergologia/imunologia pediátrica, para abordar o padrão de uso de internet de potenciais usuários. Lançou-se um website em português e uma página no Instagram®, nos quais foi criada, no contexto da pandemia, uma área para comunicação paciente-médico. Resultados: Dos 93 participantes, 77% eram mulheres, 82% cuidadores, com idade mediana de 33,2 anos e renda mensal de 403 dólares. A internet foi acessada via smartphone por 81,7% dos participantes; 76% relataram usar a internet para informações em saúde, mas 72% não confiavam nessa informação, e 96% acreditavam que um site institucional poderia prover informações seguras. Do lançamento do website em 6 de novembro de 2018 até 20 de janeiro de 2022, contabilizaram-se 10.062 visualizações de páginas por 4.896 usuários; 55% tinham idade entre 18 e 34 anos, 70,2% eram mulheres. A página no Instagram® reuniu 882 seguidores. O website apresentou período de instabilidade, sem registrar acessos. Em razão do isolamento social durante a pandemia de COVID-19, o website apresentou-se como ferramenta de primeira linha para auxiliar pacientes e médicos. Conclusões: Pacientes e cuidadores do ambulatório de Alergologia/Imunologia Pediátrica, consultados sobre ferramentas digitais, consideraram as informações fornecidas por uma instituição de ensino/pesquisa como oportunas e relevantes. O website e a página do Instagram® têm apresentado bom desempenho e visualização, e os resultados estão sendo continuamente avaliados. Durante a pandemia de COVID-19, o website tem conectado pacientes/familiares e médicos.

Abstract Objective: To describe the development of a website and the creation of a social network account about pediatric allergy/immunology with reliable information, to promote education and have a channel for patient-doctor contact. Methods: This is a descriptive study. A survey was conducted with 93 patients (12 years and older) and caregivers of a Pediatric Allergy/Immunology outpatient clinic, to assess internet usage patterns of potential users. A webpage in Portuguese and an Instagram® account were launched in which it was created an area for patient-doctor communication in the pandemic context. Results: Among 93 participants, 77% were female, 82% caregivers. Median age was 33.2 years, family income 403 dollars/month. The internet was accessed via smartphone by 81,7% of the participants; 76% reported using internet to access health information but 72% did not trust on the information from the internet, and 96% believed that an institutional site could provide meaningful information. From the website release in November 6, 2018 to January 20, 2022, it was counted 10,062 page views by 4,896 users; 55% were 18–34 years old, 70.2% female. Instagram® account gathered 882 followers. Website went through a period of instability during which access were not counted. Due to social isolation during COVID-19 pandemic, the website served as a tool for first response to help patients and doctors. Conclusions: Patients and caregivers of the Pediatric Allergy/Immunology service, consulted about digital tools, considered the information supported by a teaching/research institution timely and relevant. The website and Instagram® account have both performed well and shown good return in relation to hits, and results are continuously being evaluated. During COVID-19 pandemic, the website has been connecting patients/families and doctors.

RESUMO Objetivo: Relatar os casos de duas pacientes com doença inflamatória intestinal de início muito precoce (em inglês VEOIBD) secundária a mutações do receptor de interleucina 10 (IL-10R), explorar dados de imunofenotipagem e perfil de citocinas plasmáticas nesses casos em comparação com indivíduos saudáveis e descrever o fenótipo de mutações IL-10/IL-10R com base em uma revisão da literatura. Descrição do caso: Duas lactentes do sexo feminino foram encaminhadas ao nosso centro terciário, ambas com dez meses no momento do encaminhamento, com doença colônica e perianal grave, bem como desnutrição significativa, tendo uma resposta limitada aos agentes de terapia usuais de doença inflamatória intestinal (DII). No primeiro caso, o sequenciamento completo do exoma revelou mutação homozigótica (c. 537G>A/p.T179T) no exon 4 do gene IL-10RA, enquanto no segundo caso heterozigosidade composta foi identificada também no gene IL-10RA [chr11: 117.859.199 - variante A>G/p.Tyr57Cys e chr11: 117.860.335 - variante G>T/ p.Val123Leu]. Ambas as pacientes foram submetidas a Transplante de Células-Tronco Hematopoiéticas. A investigação imunológica das pacientes revelou aumento dos níveis plasmáticos de IL-10 e aumento da IgA. Comentários: Nossos relatos de casos descrevem novos achados no perfil de citocinas plasmáticas na deficiência de IL-10R, e relatamos o fenótipo grave da deficiência de IL-10/IL-10R que deve ser reconhecido pelos médicos.

ABSTRACT Objective: To report two patients with very-early-onset inflammatory bowel disease (VEOIBD) secondary to interleukin-10 receptor (IL-10R) mutations, explore immunophenotyping data and plasma cytokine profile on these cases compared to healthy controls, and describe the phenotype of IL-10/IL-10R mutations based on a literature review. Case description: We report on two female infants referred to our tertiary center at the age of ten months, with severe colonic and perianal disease, as well as significant malnutrition, who had shown limited response to usual inflammatory bowel disease (IBD) therapy agents. In the first case, whole-exome sequencing (WES) revealed a homozygous (c.537G>A/p.T179T) mutation in exon 4 of the IL-10RA gene, while in the second patient, compound heterozygosity was identified, also in the IL-10RA gene (chr11:117.859.199 variant A>G/p.Tyr57Cys and chr11: 117.860.335 variant G>T/p.Val123Leu). Both patients underwent hematopoietic cell transplantation (HCT). Immunological work-up of these patients revealed increased IL-10 plasma levels and increased IgA. Comments: Our case reports disclose novel findings on plasma cytokine profile in IL-10R deficiency, and we describe the severe phenotype of IL-10/IL-10R deficiency that should be recognized by physicians.

RESUMO CONTEXTO Glicogenose (GSD) tipo 1b é uma doença multissistêmica em que complicações imunológicas e infecciosas estão presentes, além das manifestações metabólicas bem conhecidas da GSD. O tratamento com fator estimulador de colônias de granulócitos (G-CSF) é frequentemente indicado no tratamento da neutropenia e doença inflamatória intestinal. OBJETIVO Relatar sobre a dados demográficos, genótipo, apresentação clínica, manejo e complicações de pacientes pediátricos com GSD tipo 1b (GSD 1b), com atenção especial às complicações relacionadas ao sistema imunológico. MÉTODOS Série de casos retrospectiva de sete pacientes com GSD 1b diagnosticados e acompanhados em um hospital universitário terciário no Brasil, de julho/2000 a julho/2016. RESULTADOS A idade média no encaminhamento foi de 14 meses. O diagnóstico de GSD 1b foi baseado em achados clínicos e laboratoriais e apoiado por estudos genéticos em cinco casos. Todos os pacientes apresentaram neutropenia, tratada com G-CSF - especificamente Filgrastim. As hospitalizações por infecções foram frequentes. Dois pacientes desenvolveram doença inflamatória intestinal. Seis pacientes permanecem vivos, um morreu aos 14 anos e 9 meses de idade. A média de idade ao final do acompanhamento foi de 11,5 anos. A adesão ao tratamento foi sub-ótima: má adesão aos medicamentos, amido e manejo dietético de GSD foram documentados, e consultas ambulatoriais foram frequentemente perdidas. CONCLUSÃO O manejo da GSD 1b é um desafio, não apenas pela natureza crônica e multissistêmica desta doença, mas também pelas demandas adicionais relacionadas a restrições dietéticas, uso de múltiplos medicamentos e a necessidade de consultas de acompanhamento frequentes; no Brasil, isso ainda é dificultado em um cenário em que frequentemente atendemos pacientes com situação socioeconômica desfavorável e com oferta irregular de medicamentos no sistema público de saúde.

ABSTRACT BACKGROUND Glycogen storage disease (GSD) type 1b is a multisystemic disease in which immune and infectious complications are present, in addition to the well-known metabolic manifestations of GSD. Treatment with granulocyte-colony stimulating factor (G-CSF) is often indicated in the management of neutropenia and inflammatory bowel disease. OBJECTIVE To report on the demographics, genotype, clinical presentation, management, and complications of pediatric patients with glycogen storage disease type 1b (GSD 1b), with special attention to immune-related complications. METHODS Retrospective case series of seven patients with GSD 1b diagnosed and followed at a tertiary university hospital in Brazil, from July/2000 until July/2016. RESULTS Mean age at referral was fourteen months. Diagnosis of GSD 1b was based on clinical and laboratory findings and supported by genetic studies in five cases. All patients presented suffered from neutropenia, managed with G-CSF - specifically Filgrastim. Hospitalizations for infections were frequent. Two patients developed inflammatory bowel disease. Six patients remained alive, one died at age 14 years and 9 months. The mean age at the end of the follow-up was 11.5 years. Compliance to treatment was suboptimal: poor compliance to medications, starch and dietetic management of GSD were documented, and outpatient appointments were frequently missed. CONCLUSION Managing GSD 1b is challenging not only for the chronic and multisystemic nature of this disease, but also for the additional demands related dietary restrictions, use of multiple medications and the need for frequent follow-up visits; furthermore in Brazil, the difficulties are increased in a scenario where we frequently care for patients with unfavorable socioeconomic status and with irregular supply of medications in the public health system.

Kocuria roseabelongs to genus Kocuria(Micrococcaceaefamily, suborder Micrococcineae, order Actinomycetales) that includes about 11 species of bacteria. Usually, Kocuria spare commensal organisms that colonize oropharynx, skin and mucous membrane; Kocuria spinfections have been described in the last decade commonly affecting immunocompromised patients, using intravenous catheter or peritoneal dialysis. These patients had mainly bacteremia/recurrent sepsis. We hereby describe the case of a 10-year-old girl, immunocompetent, who had endocarditis/sepsis by K. roseawhich was identified in five different blood cultures by Vitek2 ID-GPC card (BioMérieux, France). Negative HIV serology, blood count within normal range of leukocytes/neutrophils and lymphocytes, normal fractions of the complement, normal level of immunoglobulins for the age; lymphocyte immunophenotyping was also within the expected values. Thymus image was normal at chest MRI. No catheters were required. Identification of K. roseawas essential to this case, allowing the differentiation of coagulase-negative staphylococci and use of an effective antibiotic treatment. Careful labo- ratory analysis of Gram-positive blood-born infections may reveal more cases of Kocuria spinfections in immunocompetent patients, which may collaborate for a better understanding, prevention and early treatment of these infections in pediatrics.

The aims of this study were to determine the presence of respiratory syncytial virus (RSV) and to assess the clinical features of the disease in infants with acute low respiratory tract infection hospitalized at pediatric intensive care units (PICU) of two university teaching hospitals in São Paulo State, Brazil. Nasopharyngeal secretions were tested for the RSV by the polymerase chain reaction. Positive and negative groups for the virus were compared in terms of evolution under intensive care (mechanical pulmonary ventilation, medications, invasive procedures, complications and case fatality). Statistical analysis was performed using the Mann Whitney and Fisher's exact tests. A total of 21 infants were assessed, 8 (38.1%) of whom were positive for RSV. The majority of patients were previously healthy while 85.7% required mechanical pulmonary ventilation, 20/21 patients presented with at least one complication, and the fatality rate was 14.3%. RSV positive and negative groups did not differ for the variables studied. Patients involved in this study were critically ill and needed multiple PICU resources, independently of the presence of RSV. Further studies involving larger cohorts are needed to assess the magnitude of the impact of RSV on the clinical evolution of infants admitted to the PICU in our settings.

OBJETIVO: Comparar os efeitos das técnicas de aumento do fluxo expiratório (AFE) e vibração associada à drenagem postural (DP) nos parâmetros cardiorrespiratórios de frequência cardíaca (FC), frequência respiratória (FR) e SpO2 de lactentes com bronquiolite viral aguda (BVA). MÉTODOS: Foram analisados lactentes com diagnóstico clínico e radiológico de BVA. A FC, FR e SpO2 foram registradas em quatro tempos: antes do procedimento e após 10, 30 e 60 min do término do procedimento. Os pacientes foram divididos em três grupos: submetido à AFE; submetido à vibração/DP; e controle. RESULTADOS: Foram incluídos no estudo 81 lactentes, 27 em cada grupo de estudo, com média de idade de 4,52 meses e peso médio de 6,56 kg. Na comparação por ANOVA, as médias da FR, FC e SpO2 nos grupos AFE e vibração/DP não apresentaram diferenças significantes em relação ao grupo controle (p > 0,05). Considerando somente os quatro tempos, houve queda significante dos valores médios de FR nos grupos AFE e vibração/DP em relação ao controle (p < 0,05). CONCLUSÕES: A aplicação de AFE e de vibração associada à DP não apresentou um benefício global na melhora dos parâmetros cardiorrespiratórios em lactentes com BVA. Quando analisados isoladamente no decorrer do tempo, a fisioterapia respiratória parece contribuir na diminuição da FR nesses pacientes.

OBJECTIVE: To compare the expiratory flow increase technique (EFIT) and vibration accompanied by postural drainage (PD) in terms of their effects on the heart rate (HR), respiratory rate (RR) and SpO2 of infants with acute viral bronchiolitis (AVB). METHODS: Infants with clinical and radiological diagnosis of AVB were analyzed. The HR, RR and SpO2 were registered at four time points: prior to the procedure; and at 10, 30 and 60 min after the procedure. The patients were divided into three groups: submitted to the EFIT; submitted to vibration/PD; and control. RESULTS: We included 81 infants, 27 per group, with a mean age of 4.52 years and a mean weight of 6.56 kg. Using ANOVA, we found that the EFIT and vibration/PD groups presented no significant differences in relation to the control group in terms of the mean values for HR, RR or SpO2 (p > 0.05). Considering only the four time points evaluated, the mean RR was significantly lower in the EFIT and vibration/PD groups than in the control group (p < 0.05). CONCLUSIONS: In terms of overall improvement of cardiorespiratory parameters, neither the EFIT nor vibration/PD provided any benefit to infants with BVA. However, over time, respiratory physical therapy seems to contribute to decreasing the RR in these patients.

The aim of this study was to determine if there was a correlation between respiratory syncytial virus (RSV) and metapneumovirus (MPV) genotypes and clinical data of Brazilian infants hospitalized for acute lower respiratory infection. The viruses in the patients' nasopharyngeal secretions were studied using the polymerase chain reaction and phylogenetic analysis. The study assessed 144 infants; 31.9% were RSV positive and 5.6% were MPV positive. Statistical analysis was performed using the chi-squared test, Fisher's test, Odds ratio, univariate logistic regression, non-conditional multivariate logistic regression and the forward - stepwise method. Multivariate analysis confirmed a significant relationship between a positive PCR test for RSV and hospitalization during the month of May and with pulse oximetry less than 90%. The phylogenetic analysis indicated the genotypes GA2, GA5, SAA1 (Group A), SAB1, SAB3 and BA (Group B) for RSV and Group B, subgroup B1, for MPV.

OBJETIVO: Infecções respiratórias agudas são a causa mais comum de internação hospitalar em pediatria. Uma proporção de pacientes internados necessita de ventilação pulmonar mecânica invasiva (VPMI). Este estudo objetivou avaliar fatores prognósticos para VPMI em lactentes hospitalizados por infecção respiratória aguda baixa. MÉTODOS: Estudo de coorte prospectivo, realizado de abril a setembro de 2004, em dois hospitais universitários da região de Campinas, São Paulo, Brasil. Foram avaliados 152 lactentes internados, registrando-se dados epidemiológicos e clínicos na internação e no seguimento. Analisaram-se dois grupos, de acordo com a necessidade de VPMI, comparando-se os fatores prognósticos. A associação entre fatores de risco e desfecho estudado foi analisada por risco relativo (RR) e intervalos de confiança (IC 95%). RESULTADOS: Vinte e um pacientes (13,81%) necessitaram de VPMI. Fatores significativamente associados à VPMI na admissão foram: idade < 3 meses (RR=2,35, IC 95%:1,06-5,22), aleitamento materno < 1 mês (RR=3,15, IC 95%:1,35-7,35) e cianose (RR=7,55, IC 95%:5,01-11,36). Observou-se risco aumentado no grupo de VPMI para internação > 10 dias (RR=13,69, IC 95%:4,92-38,09), oxigenioterapia > 10 dias (RR=13,57, IC 95%:5,41-34,03), uso de antibióticos (RR=3,03, IC 95%:1,34-6,89) e reinternações (RR=5,23, IC 95%:2,12-12,91). CONCLUSÃO: As associações entre a necessidade de VPMI e baixa idade, tempo curto de aleitamento materno e cianose à admissão demonstram as reduzidas reservas fisiológicas no lactente jovem com infecção respiratória baixa. Caracterizam este grupo de pacientes a necessidade de suporte hospitalar prolongado e intensivo e maior taxa de reinternações.

OBJECTIVE: Acute lower respiratory tract infections are the most common cause of hospital admission in pediatrics. A number of admitted patients need invasive mechanical pulmonary ventilation (IMPV). This study aimed to evaluate prognostic factors for IMPV in infants admitted due to acute lower respiratory infection. METHODS: A prospective cohort study was conducted from April to September, 2004, in two university hospitals of the Campinas metropolitan area, São Paulo, Brazil. One hundred, fifty-two infants were enrolled. Epidemiological and clinical data were recorded at admission and follow-up. Two groups were analyzed, according to the need of IMPV, with a comparison of prognostic factors. Association between risk factors and the outcome were studied and assessed by Relative Risk (RR), with confidence intervals of (95%CI). RESULTS: Twenty-one patients (13.81%) needed IMPV. Factors significantly associated with IMPV on admission were: age < 3 months (RR=2.35, 95%CI:1.06-5.22), breast feeding < 1 month (RR=3.15, 95%CI:1.35-7.35) and cyanosis (RR=7.55, 95%CI:5.01-11.36). In the IMPV group, increased risks for hospitalization > 10 days (RR=13.69, 95%CI:4.92-38.09), oxygen therapy > 10 days (RR=13.57, 95%CI:5.41-34.03), antibiotic usage (RR=3.03, 95%CI:1.34-6.89) and readmission (RR=5.23, 95%CI:2.12-12.91) were observed. CONCLUSION: The associations between need of IMPV and early age, reduced breast feeding and cyanosis demonstrate diminished physiological reserves in the young infant with lower respiratory infection. These patients require prolonged and intensive hospital support and readmission.

Respiratory syncytial virus (RSV) is one of the main causes of acute lower respiratory tract infections worldwide. We examined the incidence and associated risks for RSV infection in infants hospitalized in two university hospitals in the state of São Paulo. We made a prospective cohort study involving 152 infants hospitalized for acute lower respiratory tract infections (ALRTI) in two university hospitals in Campinas, São Paulo, Brazil, between April and September 2004. Clinical and epidemiological data were obtained at admission. RSV was detected by direct immunofluorescence of nasopharyngeal secretions. Factors associated with RSV infection were assessed by calculating the relative risk (RR). The incidence of RSV infection was 17.5%. Risk factors associated with infection were: gestational age less than 35 weeks (RR: 4.17; 95% confidence interval (CI) 2.21-7.87); birth weight less than or equal to 2,500 grams (RR: 2.69; 95% CI 1.34-5.37); mother's educational level less than five years of schooling (RR: 2.28; 95% CI 1.13-4.59) and pulse oximetry at admission to hospital lower than 90% (RR: 2.19; 95% CI 1.10-4.37). Low birth weight and prematurity are factors associated with respiratory disease due to RSV in infants. Low educational level of the mother and poor socioeconomic conditions also constitute risk factors. Hypoxemia in RSV infections at admission indicates potential severity and a need for early oxygen therapy.