RESUMO
Systemic sclerosis (SSc) is a complex autoimmune disease which genetic component has not been yet completely understood. IL6 encodes a cytokine with a crucial role in the development of autoimmunity and fibrosis and its actions mainly are controlled by IL-6 receptor (IL-6R). We aimed to investigate whether the functional genetic variants rs8192284 and rs2228044 previously associated with several autoimmune diseases, located within the IL-6 receptor (IL-6R) subunits IL6R and IL6ST genes, respectively, are involved in the susceptibility to SSc and/or its major clinical subphenotypes. A Spanish cohort including 1013 SSc patients and 1375 controls was genotyped using the TaqMan® allelic discrimination technology. SSc patients were subdivided according to the major clinical forms, autoantibody status and presence of fibrotic lung affection. Our data showed no influence of the selected variants in global SSc susceptibility (rs8192284: P=0.67, odds ratios (OR)=0.98; rs2228044: P=0.99, OR=1.00). Similarly, the clinical/autoantibody subphenotype analyses did not yielded significant results. Our data suggest that the analyzed polymorphisms may not play a significant role in the SSc susceptibility.
Assuntos
Receptor gp130 de Citocina/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Polimorfismo de Nucleotídeo Único/genética , Receptores de Interleucina-6/genética , Escleroderma Sistêmico , Estudos de Casos e Controles , Frequência do Gene/genética , Humanos , Escleroderma Sistêmico/genéticaRESUMO
Nine-year-old female patient presented with cianosis since she was born, fatique and dyspnea when sucking. The diagnosis was univentricular heart with left ventricular morphology, transposition of the great arteries, moderate pulmonary valve stenosis and atrial septal defect. Submitted to surgical correction with superior vena cava-right pulmonary artery anastomosis, inferior vena cava anastomosis using lateral tunnel, with cardiopulmonary bypass. After surgical correction, the clinical and laboratorial (echocardiogram and cardiac catheterization) evaluation showed Fontan operation with good surgical results. Total cavopulmonary connection was proposed as a modification of the Fontan procedure that might have greater benefits than previous proposed techniques. The results demonstrate that this modification provides excellent early definitive treatment, increasing hemodynamic profile, with low morbidity and mortality, for a variety of complex congenital heart lesions.