Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis

Universidade de São Paulo Faculdade de Medicina Hospital das ClinicasUniversidade Federal de São Paulo (UNIFESP) Department of HematologyUNIFESP, Department of HematologySciEL

Meningite aguda: uma revisão da literatura

Meningite é a inflamação das meninges, causada principalmente por bactérias e vírus, além de fungos e agentes não infecciosos. O presente trabalho teve como objetivo descrever a meningite bacteriana e viral aguda, abordando o quadro clínico, epidemiologia, diagnóstico e mecanismos patogênicos. Trata-se de uma revisão da literatura, desenvolvida entre fevereiro de 2022 e fevereiro de 2023 utilizando como base de dados Scientific Eletronic Library OnLine (SciELO), Literatura Latino-Americana e do Caribe em Ciências da Saúde (Lilacs), PubMed e Google Acadêmico. Foram utilizados como descritores: neuroinfecções, meningite, meningite bacteriana, meningite viral e seus correspondentes em inglês, de acordo com o localizador de assunto DeCS/MeSH. Foram incluídos artigos escritos em português e inglês, disponíveis na íntegra, publicados no período de 1990 a 2023. A meningite é causada principalmente por bactérias e que o quadro clínico varia de acordo com a via de aquisição da infecção, fatores intrínsecos ao indivíduo e agente etiológico. Na meningite, as meninges podem apresentar algum nível de desregulação imunológica e os patógenos apresentam diferentes mecanismos que atravessam a barreira protetora do sistema nervoso e causam a doença. Apesar dos avanços no conhecimento e manejo da doença, a meningite é uma patologia preocupante, em virtude da sua alta morbimortalidade

Evaluation of the imunocompetence of carriers of the Rubinstein-Taybi syndrome.

A síndrome de Rubinstein-Taybi (RTS, OMIM 180849) é uma doença autossômica dominante caracterizada por dismorfismos craniofaciais típicos, polegares e háluces alargados, infecções respiratórias recidivantes, retardo mental e de crescimento. RTS está associada com mutação no gene CREBBP. Na avaliação da imunocompetência de 17 portadores de RTS, observaram-se algumas alterações na resposta imune inata e adaptativa: leucocitose persistente, neutrófilos com desgranulopoiese, elevada concentração sérica de IgM e IgG1, produção normal de anticorpos contra antígenos protéicos e anti-polissacarídeos, elevados valores absolutos de células B totais, B \"naive\", B de memória, subpopulação B1 e de linfócitos B com IgM de membrana, e elevado percentual de apoptose de linfócitos B. DTH negativo para três antígenos e baixa resposta linfoproliferativa para antígenos protéicos. Diante do exposto, concluímos que os pacientes RTS apresentam alterações em vários mecanismos da resposta imune e principalmente, na imunidade humoral. Portanto, com este trabalho foi possível identificar as principais alterações imunológicas destes pacientes, e com isso, caracterizar quais os defeitos da resposta imune que pode estar associada com gene CREBBP.Rubinstein-Taybi syndrome (RTS, OMIM 180849) is a dominant Mendelian disorder characterized by craniofacial dysmorphisms, broad thumbs and toes, mental retardation and growth and recurrent respiratory infections. RTS is classically associated with CREBBP gene mutations, but recently, p300 gene mutations were reported in three individuals. In imunonocompetence investigation of a group of 17 patient of the RTS, we found that the patients really show alterations in more than one arm of the immune response. The main alterations were found in: a) innate immunity, patients have defects in the distribution of the granules citoplasmatic and partial absence of F-actin filament part of its polymorphonuclear cells. In addition, some patients had decreased phagocytic activity, b) humoral immunity: elevated serum IgM antibodies and IgG1 subclass, normal production of antibodies for protein antigens and antipolysaccharide, high absolute values of B cell total, B \"naive\", B memory, subpopulation B1 and B lymphocytes with the membrane IgM, and high percentage of apoptosis of B lymphocytes; c) cellular immunity: delayed hypersensitivity skin tests negative for three antigens and low lymphoproliferative response to protein antigens. Values reduced percentage of CD45RA+ , CD45RO+ T cells and high doublepositive CD45RA+/CD45RO +) T cell. Ahead of the severe recurrent respiratory infections that affect the patients with RTS, and of the evaluation of immunocompetence of these patients, we find that they have several alterations in mechanisms of immune response and mainly in humoral immunity. Therefore, with this study was to identify the major immunological alterations of these patients, and with this, which characterize the main defects of the immune response of the patients RTS that can is associated with gene CREBBP

Analyses of the soluble levels of sCD40L, sCD62P and sCD40 in pediatric sickle cell anemia patients with abnormal transcranial Doppler

Introduction: Serum levels of sCD40L, sCD40 and sCD62P were evaluated in sickle cell anemia (SCA) patients aged between 2 and 16 years with normal transcranial Doppler (TCD) and no stroke (G1, n = 24); in SCA patients with abnormal TCD (G2, n = 16); in SCA patients with a previous history of stroke (G3, n = 8), and; in healthy controls (aged 2 to 13 years; n = 26). Results: The levels of sCD40L were significantly higher in the G1, G2 and G3 groups, compared to controls (p = 0.0001, p < 0.0002 and p = 0.004, respectively). Among patients with SCA, higher levels of sCD40L were found in the G3 group, compared to the G2 group (p = 0.03). In the sCD62P analysis, high levels in G3, compared to G1 (p = 0.0001), G2 (p = 0.03) and G4 (p = 0.01), and G2 also had high levels, compared to G1 (p = 0.04). The G1 patients had a higher sCD40L/sCD62P ratio, compared to G2 (p = 0.003) and controls (p < 0.0001). The sCD40L/sCD40 ratios were higher in G1, G2 and G3, compared to controls (p < 0.0001, p = 0.008 and p = 0.002, respectively). Conclusion: It was concluded that the combination of TCD abnormality, associated with levels of sCD40L and sCD62P, may contribute to a better assessment of the risk for stroke in pediatric SCA patients.Favor pedir para os autores corrigirem esta frase, pois NÃO é uma sentença completa em inglês: Our data suggest that decreased values of the s[LSM1] CD40L/sCD62P ratio involving two inflammatory mediators produced in platelet activation, being unprecedented in the literature

B and T cell subsets in elderly with frailty syndrome

Background: Aging is related to changes in functional reserve that progressively lead to increased morbidity and mortality. Frailty syndrome, a common entity in older adults, is characterized by increased vulnerability to stress secondary to a decline in homeostasis caused by dysregulation. Objective: The study aimed to evaluate the immunocompetence of elderly individuals with frailty syndrome. Methods: A cross-sectional and translational study was carried with sixty-nine older adults with frailty syndrome (patients) and 42 healthy older adults (controls) were included. Results: Low naive TCD4+ cells (P = 0.03) in patients with Frailty syndrome compared to controls. Low levels of total T cells (P = 0.01), TCD4+ (P = 0.005), and TCD4+/TCD8+ ratio (P = 0.04), memory T cells (P = 0.02), memory TCD4+ (P = 0.001), memory T CD8+ (P < 0.0001), and high levels of naïve/memory T cells ratio (p = 0.008) in Frailty syndrome patients with age ≥70 years. Conclusion: Older adults with frailty syndrome have alterations in the cellular immune response, and these findings may be associated with increased morbidity and mortality in these patients

The balance between the serum levels of IL-6 and IL-10 cytokines discriminates mild and severe acute pneumonia

Submitted by Adagilson Silva ([email protected]) on 2017-05-11T17:51:29Z No. of bitstreams: 1 27905908 2016 bri-bal.pdf: 546697 bytes, checksum: 4701d46965e36c5febc1184f27087bda (MD5)Approved for entry into archive by Adagilson Silva ([email protected]) on 2017-05-11T17:51:49Z (GMT) No. of bitstreams: 1 27905908 2016 bri-bal.pdf: 546697 bytes, checksum: 4701d46965e36c5febc1184f27087bda (MD5)Made available in DSpace on 2017-05-11T17:51:49Z (GMT). No. of bitstreams: 1 27905908 2016 bri-bal.pdf: 546697 bytes, checksum: 4701d46965e36c5febc1184f27087bda (MD5) Previous issue date: 2016-12-01Institute of Integral Medicine Professor Fernando Figueira (IMIP). Pediatrics. Recife, PE, Brazil.Institute of Integral Medicine Professor Fernando Figueira (IMIP). Oncology and Aggeu Magalhães Research Center. Fiocruz-PE. Immunology. Recife, PE, Brazil.Institute of Integral Medicine Professor Fernando Figueira ( IMIP). Translational Medicine Laboratory. Recife, PE, Brazil.Fundação Oswaldo Cruz. Instituto Aggeu Magalhães. Departamento de Saúde Pública. Recife, PE, Brasil.Institute of Integral Medicine Professor Fernando Figueira ( IMIP). Translational Medicine Laboratory. Recife, PE, Brazil.Federal University of Pernambuco. Pediatrics. Recife, PE, Brazil.Background: To identify markers for earlier diagnosis of severe pneumonia, we assess the correlation between serum cytokine profile of children with different pneumonia severity. Methods: In 25 hospitalized children, 7 with mild pneumonia and 18 with severe pneumonia, the serum concentration of 11 cytokines in three sampling times were dosed. Statistical analysis included parametric and non-parametric tests, Pearson correlation and ROC curve for cut-off definition of cytokines. Results: At admission, IL-6 serum levels were high in mild or severe pneumonia, and was associated to vomiting (P = 0. 019) in both groups; and also to dyspnea (P = 0.012) and white blood cell count (P = 0.045) in patients with severe pneumonia. IL-10 levels were also high in patients with pneumonia and were associated to lymphocytosis (P = 0.025). The ROC curve of the IL-6:IL-10 serum levels ratio discriminated severe pneumonia cases at admission, and persistence of infection in the third day of antibiotic therapy, with positive predictive values of 93% and 89%, respectively. Conclusions: The balance between IL-6 and IL-10 serum levels showed to be a more discriminative marker for severity definition and evaluation of recovery in patients with pneumonia

Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region

Inst Med Integral Prof Fernando Figueira IMIP, Translat Res Lab Prof CA Hart, BR-50070550 Recife, PE, BrazilUniv São Paulo, Fac Med, Hosp Clin, Med Invest Lab LIM 36, São Paulo, BrazilUniv São Paulo, Fac Med, Med Genet Unit, Inst Crianca, São Paulo, BrazilUniv São Paulo, Dept Pathol, Citogen Lab LIM 03, São Paulo, BrazilUniversidade Federal de São Paulo UNIFESP, Dept Morphol & Genet, São Paulo, BrazilInst Med Integral Prof Fernando Figueira IMIP, Clin Immunol Unit, BR-50070550 Recife, PE, BrazilUniversidade Federal de São Paulo UNIFESP, Dept Morphol & Genet, São Paulo, BrazilWeb of Scienc

High Levels of CXCL8 and Low Levels of CXCL9 and CXCL10 in Women with Maternal RhD Alloimmunization

Maternal RhD alloimmunization is an inflammatory response against protein antigens in fetal red blood cells (RBC). However, not all women become alloimmunized when exposed to RhD+ fetal RBC. Thus, this study aimed to evaluate levels of inflammatory chemokines in RhD− pregnant women with erythrocyte alloimmunization. CXCL8, CXCL9, CCL5, and CXCL10 levels were determined from cell culture supernatants by flow cytometry in 46 (30 non-alloimmunized RhD− and 16 previously alloimmunized RhD−) pregnant women. CXCL8 levels were significantly higher (P &lt; 0.004), and CXCL9 (P &lt; 0.008) and CXCL10 (P &lt; 0.003) levels were significantly lower in alloimmunized pregnant women. No significant difference in CCL5 levels was detected between the groups. Fetal RHD genotyping was performed in the alloimmunized RhD− group by real-time PCR. Anti-D alloantibody was detected in 10 mothers and anti-D and -C in six mothers. Twelve fetuses were RHD positive and four were RHD negative. Further studies of serum chemokines and placenta tissue could provide a better understanding of the cells involved in the pathogenesis of maternal erythrocyte alloimmunization