RESUMEN
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. Two hundred forty-eight T1D patients and 250 healthy controls were typed for HLA and KIR genes by PCR-SSP. Our results showed an increase of C2 in controls (p = 0.002). The genotype 2DL1/C2+ was also more common in controls (p = 0.001), as well as haplotype association KIR2DL2/DR3/DR4+ and the combination with only DR3+ (p < 0.001; p < 0.001). The maximum protection was seen when KIR2DL2/DR3-were absent when the combination of KIR2DL1/C2+ were present (p < 0.001) and the maximum risk was observed when KIR2DL2/DR3/DR4+ were present in the absence of KIR2DL1/C2- (p = 0.005). Our results confirmed the association of the KIR2DL2/DR3 increasing risk for T1D and suggest a protective role of KIR2DL1/C2.
Asunto(s)
Diabetes Mellitus Tipo 1/genética , Predisposición Genética a la Enfermedad/genética , Antígenos HLA-C/genética , Receptores KIR2DL1/genética , Adolescente , Brasil , Distribución de Chi-Cuadrado , Niño , Preescolar , Frecuencia de los Genes , Genotipo , Haplotipos , Humanos , Lactante , Recién Nacido , Reacción en Cadena de la Polimerasa , Receptores KIR/genética , Receptores KIR2DL4/genética , Receptores KIR3DL2/genéticaRESUMEN
Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the bowel, of unknown origin. Exposure to specific environmental factors by genetically susceptible individuals, leading to an inadequate response of the immune system, is one of the potential explanations for the occurrence of these diseases. Natural killer cells are part of the innate immune system recognizing class I HLA (human leukocyte antigen) molecules on target cells through their membrane receptors. The main receptors of the natural killer cells are the killer immunoglobulinlike receptors (KIRs). Our study aimed to evaluate the association between the KIR genes in patients with inflammatory bowel diseases and healthy controls. We typed 15 KIR genes and HLA class I ligands in 248 unrelated Brazilian Caucasians, of which 111 had UC and 137 had CD, and 250 healthy controls by polymerase chain reaction using sequence-specific oligonucleotides and sequence-specific primers. We found an increase in KIR2DL2 in controls (inflammatory bowel disease [IBD]: p < 0.001; UC: p = 0.01; CD: p = not significant [NS]). The genotype 2DL2+/HLA-C lys(80)+ was also more common in controls (IBD: p = 0.005; UC: p = 0.01; CD: p = NS); as well as 2DL1+/HLA-C Asn(80)+ (IBD: p = 0.026; UC: p = NS;CD: p = NS). The imbalance between activating and inhibitory KIR and HLA ligands may explain, at least in part, the pathogenesis of these inflammatory bowel diseases.
Asunto(s)
Colitis Ulcerosa/genética , Enfermedad de Crohn/genética , Genes MHC Clase I/genética , Receptores KIR/genética , Adulto , Brasil , Colitis Ulcerosa/epidemiología , Enfermedad de Crohn/epidemiología , Femenino , Humanos , Masculino , Población BlancaRESUMEN
Oa autores apresentam sua experiência no tratamento de 69 pacientes com patologia hemorroidária, que foram submetidos a cirurgia (em 31 casos) ou a tratamento näo-operatório (em 38 casos). Acreditam que o número de pacientes tratados na forma näo-operatória possa ser bem maior do que o encontrados em sua casuística (55%). Näo houve óbitos em seus casos
Asunto(s)
Adulto , Humanos , Masculino , Femenino , Hemorroides/cirugía , Hemorroides/terapiaRESUMEN
Numa série cirúrgica de 60 pacientes com pancreatite crônica alcoólica, 12 foram operados, eletivamente, devido a pseudocisto de pâncreas e 48, fundamentalmente, à dor intratável, sofrendo intervençäo direta sobre o parênquima pancreático. Do grupo total, 11 pacientes tinham, concomitantemente, estenose do colédoco terminal, sendo que cinco destes apresentavam pseudocisto cefálico. Nesta série, a hepaticojejunostomia em alça isolada foi a cirurgia de escolha