RESUMEN
Familial hypercholesterolemia (FH) is characterized by high low-density lipoprotein cholesterol (LDL-C) levels and a high risk of early coronary heart disease. Structural alterations in the LDLR, APOB, and PCSK9 genes were not found in 20-40% of patients diagnosed using the Dutch Lipid Clinic Network (DCLN) criteria. We hypothesized that methylation in canonical genes could explain the origin of the phenotype in these patients. This study included 62 DNA samples from patients with a clinical diagnosis of FH according to the DCLN criteria, who previously tested negative for structural alterations in the canonical genes, and 47 DNA samples from patients with normal blood lipids (control group). All DNA samples were tested for methylation in the CpG islands of the three genes. The prevalence of FH relative to each gene was determined in both groups and the respective prevalence ratios (PRs) were calculated. The methylation analysis of APOB and PCSK9 was negative in both groups, showing no relationship between methylation in these genes and the FH phenotype. As the LDLR gene has two CpG islands, we analyzed each island separately. The analysis of LDLR-island1 showed PR = 0.982 (CI 0.33-2.95; χ2 = 0.001; p = 0.973), also suggesting no relationship between methylation and the FH phenotype. Analysis of LDLR-island2 showed a PR of 4.12 (CI 1.43-11.88; χ2 = 13,921; p = 0.00019), indicating a possible association between methylation on this island and the FH phenotype.
Asunto(s)
Hiperlipoproteinemia Tipo II , Proproteína Convertasa 9 , Humanos , Proproteína Convertasa 9/genética , Hiperlipoproteinemia Tipo II/diagnóstico , Fenotipo , HDL-Colesterol/genética , Apolipoproteínas B/genética , Regiones Promotoras Genéticas , Receptores de LDL/genética , MutaciónRESUMEN
BACKGROUND: Brain activity is less organized in patients with schizophrenia than in healthy controls (HC). Noise power (scalp-recorded electroencephalographic activity unlocked to stimuli) may be of use for studying this disorganization. Method Fifty-four patients with schizophrenia (29 minimally treated and 25 stable treated), 23 first-degree relatives and 27 HC underwent clinical and cognitive assessments and an electroencephalographic recording during an oddball P300 paradigm to calculate noise power magnitude in the gamma band. We used a principal component analysis (PCA) to determine the factor structure of gamma noise power values across electrodes and the clinical and cognitive correlates of the resulting factors. RESULTS: The PCA revealed three noise power factors, roughly corresponding to the default mode network (DMN), frontal and occipital regions respectively. Patients showed higher gamma noise power loadings in the first factor when compared to HC and first-degree relatives. In the patients, frontal gamma noise factor scores related significantly and inversely to working memory and problem-solving performance. There were no associations with symptoms. CONCLUSIONS: There is an elevated gamma activity unrelated to task processing over regions coherent with the DMN topography in patients with schizophrenia. The same type of gamma activity over frontal regions is inversely related to performance in tasks with high involvement in these frontal areas. The idea of gamma noise as a possible biological marker for schizophrenia seems promising. Gamma noise might be of use in the study of underlying neurophysiological mechanisms involved in this disease.
Asunto(s)
Ondas Encefálicas/fisiología , Encéfalo/fisiopatología , Trastornos del Conocimiento/fisiopatología , Potenciales Relacionados con Evento P300/fisiología , Esquizofrenia/fisiopatología , Psicología del Esquizofrénico , Adulto , Anciano , Mapeo Encefálico , Estudios de Casos y Controles , Trastornos del Conocimiento/psicología , Electroencefalografía , Familia , Femenino , Humanos , Masculino , Persona de Mediana Edad , Pruebas Neuropsicológicas , Análisis de Componente Principal , Esquizofrenia Paranoide/fisiopatología , Esquizofrenia Paranoide/psicología , Adulto JovenRESUMEN
The aim of this study was to characterize the antagonism of a bacteriocin-like inhibitory substance (BLIS) produced by Carnobacterium piscicola L103 against Listeria monocytogenes strains isolated from salmon and human samples. The inhibitory effect of the BLIS was evaluated in Tryptic soy agar (TSA) during different growth phases of L. monocytogenes at 5 degrees C, using the well diffusion method. Also, the type of inhibition, either bacteriostatic or bactericidal of the BLIS in Tryptic soy broth (TSB), was studied and the development of resistant cells investigated. Results showed an antagonistic effect of the BLIS on all the strains of L. monocytogenes. Four selected strains presented a higher sensitivity to the BLIS in the exponential growth phase and were more resistant in the stationary phase. In TSB, the inhibitory substance showed a partially bactericidal effect on L. monocytogenes. After inactivation of the BLIS with a protease, however, a regrowth of L. monocytogenes was found. The isolate most affected by the action of the BLIS was one of salmon origin. From the 86 isolated colonies that grew in the presence of the BLIS, 93% showed total resistance and 7% partial resistance, which was maintained through five consecutive culture cycles in the absence of the BLIS.