RESUMEN
Mitochondrial respiratory chain disorders [RCD] are a group of genetically and clinically heterogeneous diseases, caused due to defects of the respiratory chain. This study aimed to investigate the presence of common mtDNA point mutations in tRNALeu [UUR], tRNALys, MT-ATPase 6, MT-ND4, MT-ND1, MT-ND6 genes in eight Egyptian patients suspected to have mtDNA disease and optic atrophy. PCR-RFLP analysis was done for the detection of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C mtDNA point mutations. DNA direct sequencing was pursued for the detection of 11778G > A, 3460G > A and 14484T > C mtDNA point mutations. No point mutation of 3243A > G, 327IT > C, 8344A > G, and 8993T > G/C was detected in our group of patients. Four mtDNA polymorphisms in MT-ND1 and MT-ND4 genes [11467A > G, 11719G > A, 3348A > G and 3357G > A] were detected in three patients. Mitochondrial disorders are caused by a variety of genetic and racial factors, which differ among populations. The negative results of this study indicate that the chosen mutations might not be specific in Egyptians. Another explanation might be due to the low heteroplasmic levels of the mtDNA mutation. A registry for the different mtDNA mutations in Egyptian patients is highly recommended
Asunto(s)
Humanos , Masculino , Femenino , Enfermedades Mitocondriales/genética , ADN Mitocondrial , Genes MitocondrialesRESUMEN
The flavanone: 6-acetyl -3-O-acety-7, 4'-diethoxy-5-hydroxy -3', 5'-dimethoxyflavanone is reported for the first time from the bark of Khaya senegalensis growing in the Sudan its structure was deduced from UV, MS, and NMR spectral analysis
Asunto(s)
Aglaia , Árboles , Rayos Ultravioleta , Análisis EspectralRESUMEN
To determine the immunological responses to S. Mansoni antigen rSmp 17.7, a total of 184 subjects [174 patients from a schistosomiasis endemic area and 10 controls] was used. Proliferation, cytokine profile in culture supernatants from antigen-stimulated peripheral blood mononuclear cells and specific IgG1, IgG3, IgG4, IgA, IgM and IgE levels were assessed. The highest stimulation index to rSmp 17.7 was detected in S. mansoni patients. The evaluation of the cytokine profile [IL-2, IL-4 and IFN-gamma] in response to this antigen showed a significant increase as demonstrated by enzyme linked immunosorbent assay [ELISA]. Specifically, IFN-gamma and IL-2 were significantly detected by flow cytometry. IgG1 and IgM were significantly increased. These results highlighted the importance of rSmp 17.7 as a candidate vaccine for schistosomiasis. The results facilitate to understand the mechanism of schistosome vaccine efficacy
Asunto(s)
Humanos , Masculino , Femenino , Antígenos Helmínticos , Inmunoglobulina A , Inmunoglobulina G , Inmunoglobulina M , Inmunoglobulina E , Interleucina-2 , Interleucina-4 , Interferón gamma , Praziquantel , Schistosoma mansoni , Inmunidad Celular , Formación de AnticuerposRESUMEN
En el presente artículo se hace una revisión de la evolución en el uso de los computadores en Ortodoncia, enfocándose a los medios diagnósticos ímagenológicos digitales, y su aplicación a la práctica profesional. El objetivo es brindar al especialista una introducción a los medios diagnósticos digitales que en la actualidad se está convirtiendo en la principal herramienta para el manejo personalizado con el paciente y el grupo profesional de trabajo. Se sintetizan las características esenciales tanto del hardware como del software requerido para tener acceso a esta forma de manejo diagnóstico computarizado.