RESUMEN
Previous studies suggested that abnormal regulation of TNF-alpha production may have a role in the pathogenesis of rheumatic fever (RF). Polymorphism at the promoter region of TNF-alpha gene (-308 A) has recently been shown to be associated with rheumatic heart disease (RHD) in Mexican patients. Although this polymorphism has long been shown to affect TNF-alpha gene expression in cell lines, its role in production of the cytokine in RF patients has not been studied. We therefore investigated TNF-alpha G-308A single nucleotide polymorphism and its effect on TNF-alpha production in 71 Turkish RF patients and 89 ethnically matched healthy controls. The TNF-alpha-308A allele frequency was found to be significantly higher in RF patients (RHD+arthritis) than in healthy controls [p<0.0032 Odds ratio (OR)=3.4, 95% confidence interval (CI) (1.5-7.7)]. When RHD patients were analyzed as a separate group, significant difference persisted [p<0.0055, OR=3.3, 95% CI (1.5-7.6)]. More importantly, ELISPOT analysis demonstrated that existence of A allele was associated with higher TNF-alpha production compared with G allele. Our data suggest that carrying a high responder TNF-alpha-308A allele may be a genetic factor in increasing the susceptibility to develop RF disease.
Asunto(s)
Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Fiebre Reumática/genética , Fiebre Reumática/inmunología , Factor de Necrosis Tumoral alfa/biosíntesis , Factor de Necrosis Tumoral alfa/genética , Regulación hacia Arriba/inmunología , Adenina/metabolismo , Adolescente , Adulto , Alelos , Niño , Análisis Mutacional de ADN , Frecuencia de los Genes , Guanina/metabolismo , Humanos , Persona de Mediana Edad , Fiebre Reumática/metabolismo , Factor de Crecimiento Transformador beta/genética , Regulación hacia Arriba/genéticaRESUMEN
Netherton syndrome is a rare genodermatosis comprised of anichthyosiform dermatitis, hair shaft defects, and atopic features. Other problems associated with Netherton syndrome are delayed growth and development, immune abnormalities, recurrent infections, and intermittent aminoaciduria. We describe an 18-month-old girl with Netherton syndrome who had idiopathic congenital hemihypertrophy on her right side with contralateral benign nephromegaly in addition to the characteristic clinical signs of the syndrome. To our knowledge, this is the first case of Netherton syndrome associated with idiopathic congenital hemihypertrophy to be reported.
Asunto(s)
Anomalías Múltiples/diagnóstico , Huesos/anomalías , Dermatitis Atópica/diagnóstico , Cabello/anomalías , Eritrodermia Ictiosiforme Congénita/diagnóstico , Anomalías Cutáneas/diagnóstico , Biopsia con Aguja , Dermatitis Atópica/complicaciones , Dermatitis Atópica/genética , Discapacidades del Desarrollo/diagnóstico , Femenino , Humanos , Eritrodermia Ictiosiforme Congénita/complicaciones , Eritrodermia Ictiosiforme Congénita/genética , Inmunohistoquímica , Lactante , Pronóstico , Medición de Riesgo , Dermatosis del Cuero Cabelludo/complicaciones , Dermatosis del Cuero Cabelludo/diagnóstico , Dermatosis del Cuero Cabelludo/genética , SíndromeRESUMEN
Neutrophil production and functions are immature in newborns. Although neutrophil kinetics during neonatal period have been widely studied, little is known about the effect of apoptosis on these defects. In this study, we examine the apoptosis of neonatal neutrophils and the effects of colony-stimulating factors (CSF) on this process. The study was performed using three different methodologies (morphological analysis, surface Fas expression, and mitochondrial 7A6 antigen expression) and the results were compared with adult controls. Neonatal neutrophils more rapidly underwent apoptosis in comparison to adult neutrophils. The above-mentioned three different methods gave similar results. Granulocyte-CSF (G-CSF) and granulocyte-macrophage CSF (GM-CSF) decreased the apoptosis of neutrophils in newborns and adults. This effect was significantly more pronounced in adults than newborns in morphological analysis. Increased apoptosis may contribute to qualitative and quantitative defects of neutrophils during neonatal period and may be an explanation for the proneness of newborn to develop neutropenia during systemic infections.