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1.
Scand J Immunol ; 98(3): e13257, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37873571

RESUMO

Adiponectin and leptin are adipokines, secreted by white adipose tissue (WAT), which play an important role in energy homeostasis. Some evidence has shown that adipokine-producing adipose cells present in the bone marrow (BM) appear to exert an influence on hematopoiesis and B cell development. Common variable immunodeficiency (CVID) is one of the most common inborn errors of immunity in humans. In CVID, numerical and/or functional defects of B cells and their precursors result in hypogammaglobulinemia, usually Immunoglobulin (Ig) A and IgG. Manifestations of CVID include immunodeficiency, autoimmunity, inflammation and lymphoproliferation, resulting in a wide range of phenotypes. How adipokines interact and influence the pathophysiology of CVID is still unclear. In this review, we seek to summarize the aspects known so far concerning the interface between adipokines, B cells and CVID. More research is needed to fully understand these interactions; this knowledge is a potential avenue for the discovery of useful biomarkers and may provide new therapeutic targets for the treatment of patients with CVID and related diseases.


Assuntos
Adipocinas , Imunodeficiência de Variável Comum , Humanos , Linfócitos B , Autoimunidade , Imunoglobulina A , Tecido Adiposo
2.
Int Arch Allergy Immunol ; 183(11): 1226-1230, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35973410

RESUMO

BACKGROUND: Inborn errors of immunity (IEI) are underdiagnosed disorders, leading to increased morbimortality and expenses for healthcare system. OBJECTIVES: The study aimed to develop and compare risk prediction model to measure the individual chance of a confirmed diagnosis of IEI in children at risk for this disorder. METHOD: Clinical and laboratory data of 128 individuals were used to derive machine learning (ML) and logistic regression risk prediction models, to measure the individual chance of a confirmed diagnosis of IEI in children with suspected disorder, according to previous general pediatrician/clinician judgement. Their performances were compared. RESULTS: Statistically significant variables were mainly leucopenia, neutropenia, lymphopenia, and low levels of immunoglobulins A/G/M. ML models performed better. CONCLUSION: The enhanced predictive power provided by ML models could be a resource to track IEI, providing better healthcare outcomes.


Assuntos
Inteligência Artificial , Hipersensibilidade , Criança , Humanos , Aprendizado de Máquina , Modelos Logísticos , Hipersensibilidade/diagnóstico , Atenção à Saúde
3.
J Pediatr (Rio J) ; 100(1): 40-45, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-37696495

RESUMO

OBJECTIVES: To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. METHODS: Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. RESULTS: Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n = 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. CONCLUSIONS: In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.


Assuntos
Hipersensibilidade Alimentar , Hipersensibilidade a Leite , Lactente , Animais , Feminino , Bovinos , Humanos , Masculino , Hipersensibilidade a Leite/complicações , Hipersensibilidade a Leite/diagnóstico , Estudos Retrospectivos , Hipersensibilidade Alimentar/complicações , Alérgenos , Hemorragia Gastrointestinal , Diarreia/etiologia , Proteínas do Leite
5.
Rev Paul Pediatr ; 41: e2022032, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36921176

RESUMO

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.


Assuntos
COVID-19 , Hipersensibilidade , Humanos , Feminino , Criança , Adulto , Adolescente , Adulto Jovem , Masculino , Pandemias , Brasil/epidemiologia , Pais , Rede Social
6.
Int J Immunopathol Pharmacol ; 36: 20587384211068667, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35404689

RESUMO

Objectives: Plasmacytoid dendritic cells (pDCs) have been shown to have a role in autoimmune diseases, but their role in Autoimmune Hepatitis (AIH) is not completely clear. In the present study, we assessed the frequency of pDCs in peripheral blood of AIH patients under long-term standard immunosuppressive therapy. Methods: This cross-sectional analysis enrolled 27 AIH patients and 27 healthy controls. We analyzed and compared their proportion of pDCs, CD4+, CD8+, γδ T cells, CD25+ regulatory T (Treg) cells, FoxP3+, Foxp3+CD39+ Treg cells, total B (CD19+) cells, and plasma cells (CD38+) in peripheral blood using flow cytometry immunophenotyping. Results: AIH patients had a lower percentage of pDCs (median frequencies of 0.2% vs. 0.4%; p = .002) and higher expression of CD8 T cells (32.5% vs 28.6%; p = 0.008) in peripheral blood, when compared to healthy controls. We did not find statistically significant differences between the groups regarding the other cell subtypes.Conclusion: Our data suggest a persistent suppression of pDCs in AIH patients, along with increased CD8 T cell activity, years after AIH diagnosis and despite of good clinical response to treatment, thus pointing to a role of pDCs in the AIH pathogenesis.


Assuntos
Hepatite Autoimune , Estudos Transversais , Células Dendríticas/metabolismo , Fatores de Transcrição Forkhead/metabolismo , Hepatite Autoimune/metabolismo , Hepatite Autoimune/patologia , Humanos , Linfócitos T Reguladores
7.
Arq Gastroenterol ; 58(1): 87-92, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33909803

RESUMO

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.


Assuntos
Doença de Depósito de Glicogênio Tipo I , Neutropenia , Adolescente , Brasil , Criança , Doença de Depósito de Glicogênio Tipo I/complicações , Doença de Depósito de Glicogênio Tipo I/terapia , Fator Estimulador de Colônias de Granulócitos , Humanos , Estudos Retrospectivos
8.
Rev Paul Pediatr ; 40: e2020434, 2021.
Artigo em Inglês, Português | MEDLINE | ID: mdl-34730757

RESUMO

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.


Assuntos
Doenças Inflamatórias Intestinais , Interleucina-10 , Feminino , Humanos , Imunoglobulina A , Lactente , Doenças Inflamatórias Intestinais/genética , Interleucina-10/genética , Subunidade alfa de Receptor de Interleucina-10/genética , Receptores de Interleucina-10/genética
9.
APMIS ; 127(4): 228-235, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30908772

RESUMO

Our aim was to evaluate the cost-effectiveness of a minimal lymphocyte subset quantification (LSQ) by flow cytometry as the first screening in children with clinically suspected primary immunodeficiency (PID). Two hundred sixty-eight Brazilian patients (0-21 years old) were studied. They were divided by clinical and phenotypical features into those fulfilling criteria for PID (PID phenotype) according to the 2017 International Union of Immunological Societies (IUIS) classification and those not fulfilling these criteria (non-PID phenotype). We evaluated how many patients had values below the 10th percentile for five lymphocyte subsets in peripheral blood, (suggestive of PID) according to reference values for Brazil, Italy and USA. Three lymphocyte subsets (T CD3/CD4, B CD19 and NK CD16/CD56) had p-value < 0.05 and Odds Ratio (OR) indicating a risk at least two times higher for the diagnosis of a PID phenotype. The application of Kappa coefficient (k) on Brazilian vs Italian and Brazilian vs US data sets resulted in k compatible with strong or excellent level of agreement between the three classification systems. The authors conclude that a number of CD3+ /CD4+ , CD19+ and CD16+ /CD56+ (NK) cells in peripheral blood <10th percentile represented a significant risk for the diagnosis of PID in this cohort. Natural killer (NK) deficiency is quite rare and has a very specific clinical profile. So, the analysis of these cells could be requested only in some cases, saving even more costs. The minimal immunophenotyping, with quantification of T CD4+ , CD19+ and in some cases CD16+ /CD56+ cells, may be a useful tool for the first screening of PID, saving costs, especially in developing countries.


Assuntos
Análise Custo-Benefício , Citometria de Fluxo/métodos , Infecções por HIV/diagnóstico , Imunofenotipagem/métodos , Contagem de Linfócitos/métodos , Subpopulações de Linfócitos/imunologia , Programas de Rastreamento/métodos , Adolescente , Antígenos CD/análise , Brasil , Criança , Pré-Escolar , Estudos Transversais , Citometria de Fluxo/economia , Infecções por HIV/patologia , Humanos , Imunofenotipagem/economia , Lactente , Recém-Nascido , Contagem de Linfócitos/economia , Programas de Rastreamento/economia , Adulto Jovem
10.
J. pediatr. (Rio J.) ; 100(1): 40-45, 2024. tab
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1528962

RESUMO

Abstract Objectives To evaluate outcomes of oral food challenge (OFC) test to assess tolerance in infants with non-IgE-mediated cow's milk allergy (CMA) with gastrointestinal manifestations and explore clinical data predictive of these outcomes. Methods Single-center retrospective study including infants (age < 12 months) who were referred for CMA between 2000 and 2018 and underwent OFC on follow-up. A univariate logistic regression test was performed to evaluate variables associated with the outcomes of the follow-up OFC test. Results Eighty-two patients were included, 50% were male. Eighteen patients had a positive OFC test (22%). Most patients had presented with hematochezia (77%). The median age of symptom onset was 30 days. Two-thirds of the patients were on appropriate infant formula (extensively hydrolyzed or amino acid-based formula), exclusively or in association with breastfeeding. The median time on an elimination diet before the OFC test was 8 months (Q1 6 - Q3 11 months). All cases with positive follow-up OFC tests (n= 18) had been exposed to cow's milk-based formula before the first clinical manifestation of CMA. Five out of eight cases with Food Protein-Induced Enterocolitis Syndrome (FPIES) had positive OFC tests. Exposure to cow's milk-based formula before diagnosis, a history of other food allergies, hematochezia and diarrhea were predictors of a positive OFC test. Conclusions In infants with non-IgE-mediated CMPA with gastrointestinal manifestations, the use of cow's milk-based formula, a history of other food allergies, and hematochezia and diarrhea upon initial presentation were associated factors for the later achievement of tolerance.

11.
J Med Virol ; 80(9): 1653-60, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-18649326

RESUMO

Human respiratory syncytial virus (hRSV) is recognized as the most important viral agent of serious respiratory tract diseases in the pediatric population worldwide. A prospective study for hRSV was conducted in children ageing less than 1 year admitted in two university hospitals in Campinas, São Paulo, Brazil. The aim of the present study was to investigate the genetic variability of both A and B subgroups of hRSV isolated during an epidemic period in the Campinas metropolitan region, Brazil, by sequencing a variable region of the G protein gene. Phylogenetic trees were constructed from alignments of sequences available in the GenBank database and Brazil isolates for hRSV A and B. The data demonstrate that Brazilian isolates clusters together with A and B viruses from Kenya, New Zealand, South Africa, West Virginia, United States (CH, Rochester), and other Brazilian isolates. Phylogenetic analysis of subgroup A isolates showed that the sequences obtained on the present study falls on three clusters, namely GA2, GA5, and SAA1 that co-circulate during the analyzed period. Subgroup B isolates detected belongs to three genotypes, GB3 (SAB3) and BA (BAIII). Different subgroup B genotypes were detected and BA isolates present in our samples showed some degree of genetic variability. This is one of the first reports on the molecular epidemiology of hRSV strains from the Campinas metropolitan region, São Paulo state, Brazil. And is also the first description of the circulation pattern of hRSV genotypes in two university hospitals, revealing interesting differences between the two subgroups of the virus.


Assuntos
Polimorfismo Genético , Infecções por Vírus Respiratório Sincicial/virologia , Vírus Sincicial Respiratório Humano/classificação , Vírus Sincicial Respiratório Humano/genética , Proteínas do Envelope Viral/genética , Brasil/epidemiologia , Análise por Conglomerados , Feminino , Hospitalização , Humanos , Lactente , Masculino , Epidemiologia Molecular , Filogenia , Estudos Prospectivos , RNA Viral/genética , Infecções por Vírus Respiratório Sincicial/epidemiologia , Vírus Sincicial Respiratório Humano/isolamento & purificação , Análise de Sequência de DNA
12.
J Clin Virol ; 42(1): 78-81, 2008 May.
Artigo em Inglês | MEDLINE | ID: mdl-18178521

RESUMO

BACKGROUND: Human metapneumovirus (HMPV) is a paramyxovirus associated with respiratory illness. The genotypes of HMPV isolates in Brazil have not been well characterized. OBJECTIVES: To investigate the presence of HMPV in clinical samples collected from pediatric patients of two university hospitals in the region of Campinas (São Paulo, Brazil) and to genotype them by partial sequencing of the HMPV F gene. STUDY DESIGN: Nasopharyngeal aspirates were collected from children hospitalized between April and September, 2004 because of acute respiratory infections (ARI). RESULTS: We identified HMPV in 8 of 142 (5.6%) clinical samples. We determined through phylogenetic analysis that HMPV isolates in Campinas during the study were clustered within subgroup B genotype 1. Two of the isolates analyzed showed significant differences from previously isolated B1 viruses, when compared to HMPV isolated in South Africa and Canada, and clustered in a separate branch within this genotype. CONCLUSIONS: In 2004 in our geographic region all HMPV isolates from pediatric patients were in the B1 HMPV genetic group, with two variant isolates.


Assuntos
Metapneumovirus/classificação , Metapneumovirus/isolamento & purificação , Infecções por Paramyxoviridae/virologia , Polimorfismo Genético , Sequência de Bases , Brasil , Análise por Conglomerados , Feminino , Genótipo , Hospitais Universitários , Humanos , Lactente , Masculino , Metapneumovirus/genética , Dados de Sequência Molecular , Nasofaringe/virologia , Filogenia , RNA Viral/genética , Alinhamento de Sequência , Análise de Sequência de DNA
13.
J Clin Virol ; 98: 33-36, 2018 01.
Artigo em Inglês | MEDLINE | ID: mdl-29227860

RESUMO

BACKGROUND: Each year, a considerable amount of children will experience at least one episode of acute viral bronchiolitis (AVB) during their first year of life. About 10% of them will be hospitalized, with significant physical and economic burdens. OBJECTIVES: To compare two cohorts of infants with AVB, from same region, in a ten-year interval, regarding epidemiologic factors and viral etiology. STUDY DESIGN: Cohorts: 142 (2004) and 172 (2014) infants at ages zero to 12 months; clinical diagnosis of AVB; medical care in hospital and genetic screening of nasopharyngeal secretion for respiratory viruses. RESULTS: The comparative analysis showed a difference in the percentage of respiratory syncytial virus (RSV) positive patients [2004 (33.1%); 2014 (70.3%)] (p<0.01). No differences were noted regarding gender, breastfeeding, tobacco exposure, crowding and maternal education. There was a difference as to the month of incidence (seasonality) of AVB (higher in April 2014). There was a higher age at attendance in the first cohort, and lower birth weight and gestational age ratios in the second cohort (p<0.05). There were no differences in hospitalization time, need of mechanical ventilation and number of deaths, however a difference regarding co-morbidities was noted (higher in 2004) (p<0.001). CONCLUSION: None of the analyzed variables had an impact on severity features. Virology and immunology must be considered in this kind of situation, by studying genetic variants and the maturation of the immune system in AVB by RSV or other viruses.


Assuntos
Bronquiolite/epidemiologia , Infecções por Vírus Respiratório Sincicial/epidemiologia , Vírus Sincicial Respiratório Humano/isolamento & purificação , Brasil/epidemiologia , Bronquiolite/patologia , Bronquiolite/virologia , Estudos de Coortes , Feminino , Hospitalização , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Nasofaringe/virologia , Infecções por Vírus Respiratório Sincicial/patologia
14.
Rev. Paul. Pediatr. (Ed. Port., Online) ; 41: e2022032, 2023. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1422840

RESUMO

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: 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.

15.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1347070

RESUMO

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 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.

16.
Braz J Infect Dis ; 10(5): 357-61, 2006 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-17293926

RESUMO

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.


Assuntos
Infecções por Vírus Respiratório Sincicial/epidemiologia , Infecções Respiratórias/virologia , Doença Aguda , Brasil/epidemiologia , Métodos Epidemiológicos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Infecções Respiratórias/epidemiologia , Estações do Ano , Fatores Socioeconômicos
17.
Rev Assoc Med Bras (1992) ; 52(5): 342-6, 2006.
Artigo em Português | MEDLINE | ID: mdl-17160310

RESUMO

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.


Assuntos
Hospitalização/estatística & dados numéricos , Respiração Artificial , Infecções Respiratórias/terapia , Doença Aguda , Fatores Etários , Aleitamento Materno/estatística & dados numéricos , Cianose/complicações , Métodos Epidemiológicos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Prognóstico , Infecções Respiratórias/diagnóstico , Infecções Respiratórias/etiologia , Fatores de Tempo
18.
Braz J Infect Dis ; 19(1): 82-4, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-25523077

RESUMO

Kocuria rosea belongs to genus Kocuria (Micrococcaceae family, suborder Micrococcineae, order Actinomycetales) that includes about 11 species of bacteria. Usually, Kocuria sp are commensal organisms that colonize oropharynx, skin and mucous membrane; Kocuria sp infections 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. rosea which was identified in five different blood cultures by Vitek 2 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. rosea was essential to this case, allowing the differentiation of coagulase-negative staphylococci and use of an effective antibiotic treatment. Careful laboratory analysis of Gram-positive blood-born infections may reveal more cases of Kocuria sp infections in immunocompetent patients, which may collaborate for a better understanding, prevention and early treatment of these infections in pediatrics.


Assuntos
Endocardite Bacteriana/diagnóstico , Endocardite Bacteriana/microbiologia , Imunocompetência , Micrococcaceae/classificação , Criança , Feminino , Humanos
19.
Braz J Infect Dis ; 16(1): 86-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22358363

RESUMO

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.


Assuntos
Infecções por Vírus Respiratório Sincicial/diagnóstico , Vírus Sinciciais Respiratórios/isolamento & purificação , Feminino , Genótipo , Humanos , Lactente , Recém-Nascido , Unidades de Terapia Intensiva Pediátrica , Masculino , Nasofaringe/virologia , Reação em Cadeia da Polimerase , Vírus Sinciciais Respiratórios/genética
20.
J Bras Pneumol ; 35(9): 860-7, 2009 Sep.
Artigo em Inglês, Português | MEDLINE | ID: mdl-19820812

RESUMO

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 SpO(2) of infants with acute viral bronchiolitis (AVB). METHODS: Infants with clinical and radiological diagnosis of AVB were analyzed. The HR, RR and SpO(2) 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 SpO(2) (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.


Assuntos
Bronquiolite/fisiopatologia , Bronquiolite/terapia , Frequência Cardíaca/fisiologia , Taxa Respiratória/fisiologia , Terapia Respiratória/métodos , Doença Aguda , Análise de Variância , Oscilação da Parede Torácica/métodos , Drenagem Postural/métodos , Feminino , Humanos , Lactente , Masculino , Oxigênio/sangue , Fatores de Tempo , Capacidade Vital/fisiologia
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