PESQUISA

Professor Doutor Luiz Fernando Jobim e Doutora Mariana Jobim Wilson assinam diversas publicações científicas no Brasil e no Exterior.

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DNA DE AGENTES INFECCIOSOS EM PACIENTES COM HIV

Análise molecular de patógenos pela reação em cadeia da polimerase no líquido cefalorraquiano de pacientes infectados com HIV.

A reação em cadeia da polimerase (PCR) foi teste de grande impacto no diagnóstico das meningites e encefalites linfocíticas durante a última década. Esse método foi extensivamente usado no diagnóstico das infecções do sistema nervoso central (SNC), devido a sua habilidade em detectar amostras mínimas de DNA-alvo no líquido cefalorraquiano.

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GENES KIR E DOENÇA DE CROHN

(Study of killer immunoglobulin-like receptor genes and human leukocyte antigens class I ligands in a Caucasian Brazilian population with Crohn's disease and ulcerative colitis)

Ulcerative colitis (UC) and Crohn's disease (CD) are the two main forms of chronic inflammatory bowel diseases (IBD), and although having an unknown etiology, are believed to result from a complex interaction of several genes conferring risk of disease and environmental factors, leading to an inadequate inflammation response. Recent evidence suggests that innate immune response plays an important role in initiating the inflammatory cascade and subsequent characteristic pathologic adaptive immune responses in IBD.(...)

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GENES KIR E ESCLEROSE SISTÊMICA

(Killer cell immunoglobulin-like receptor (KIR) genes in systemic sclerosiscei_4095)

A previous study has suggested that the combination KIR2DS2+/KIR2DL2-
was related to increased risk for systemic sclerosis (SSc), while others have failed to reproduce this finding. Our objective was to study this matter further and test the association of other KIR genes with SSc.

Systemic sclerosis (SSc) is a diffuse connective tissue disease characterized by autoimmunity, vascular dysfunction and variable degrees of fibrosis in the skin and internal organs. Its pathogenesis is not well known, but evidence suggests an inappropriate activation of the immune system triggered by some environmental stimuli in individuals with a genetic background of susceptibility.

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KIR E DIABETES

(Association of killer cell immunoglobulin-like receptors and human leukocyte antigen–C genotypes in South Brazilian with type 1 diabetes)

Type 1 diabetes mellitus (T1D) is a multifactorial and chronic autoimmune disease caused by the deficiency of insulin synthesis and or by its secretion or action defects. Genetic and environmental factors are known to be involved in its pathogenesis. The human leukocyte antigen complex (human leukocyte antigen (HLA)) constitutes the most relevant region contributing with 50% of the inherited risk for T1D. Natural killer cells (NK) are part of the innate immune system recognizing class I HLA molecules on target cells through their membrane receptors, called killer immunoglobulin-like receptors (KIR). The aim of our study is to evaluate the association between the KIR genes and HLA alleles in patients with T1D and healthy controls.(...)

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LINFOHISTIOCITOSE

Linfo-histiocitose hemofagocítica: tratamento com plasmaferese e gamaglobulina endovenosa.

Haemophagocytic lymphohistiocitosis: treatment with plasmapheresis and intravenous immunoglobulin.

O presente relato de caso tem como finalidade chamar a atenção de doença grave que frequentemente é confundida com septicemia, no entanto o mecanismo etiológico é decorrente de defeitos genéticos ou associados à resposta imunológica exagerada, decorrente de ação citotóxica de linfócitos T CD8 e histiócitos, acarretando proliferação clonal e ativação de células "natural killer" (NK). Uma tempestade de linfocinas acontece e como consequência é iniciada uma incontrolável hemofagocitose de todos os elementos sanguíneos, terminando pela infecção secundária do organismo por ausência de destruição de patógenos. A maioria dos casos termina pela morte do paciente; no entanto, relatamos nesse caso a possibilidade de
incluirmos a plasmaferese como forma de retirar as linfocinas circulantes, razão do estímulo à destruição celular. O tratamento concomitante com alta dose de imunoglobulina endovenosa também foi realizado.

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