Genetic susceptibility to Gilbert's syndrome in a valencian population; efficacy of the fasting test. / Susceptibilidad genética del síndrome de Gilbert en población valenciana; eficiencia del test de ayuno.

OBJECTIVE: To describe the populational distribution of the UGT1A1*28 variant (genetic variant code rs8175347) located in the promotor of the UGT gene and correlate its genotypes with the results of the fasting test, as well as its relationship with the biochemical disorder of Gilbert's syndrome (GS) in a Valencian population. PATIENTS AND METHODS: We studied the prevalence of the genotypes (TA)6/6 (TA)6/7 and (TA)7/7 of the deleterious variant rs8175347 in 144 patients with hyperbilirubinemia, 38 of whom had previously undergone the fasting test to diagnose GS, and in 150 control patients. By analysing the genomic region of the TATA box of the UGT1A1 gene promotor using Sanger sequencing, we established the correlation between the rs8175347 genotypes and the fasting test results and with the patients' biochemical disorders. RESULTS: The rate of heterozygosity of allele (TA)7 in the control population was 32% and increased to 87.59% among the patients with suspected GS. The rate of genotype TA7/7 was 81.94% among the patients with hyperbilirubinemia, compared with 11.33% in the control patients. The fasting test showed a 15.79% rate of false negatives and a 5.26% rate of false positives. CONCLUSIONS: The high frequency of allele (TA)7 among the Valencian control population, almost double the 5% reported for European control patients, confirms the high rate of GS reported in the Spanish population, without observing significant differences between the geographical ends of the country. The efficacy and reliability of the fasting test for the diagnosis of GS is questionable.

Phosphodiesterases inhibition enhances the effect of glucagon on cardiac automaticity in the isolated right ventricle of the rat.

We evaluated the effect of glucagon on cardiac automaticity as well as the possible role of cyclic nucleotide phosphodiesterases (PDE) in regulating this effect. Concentration response curves for glucagon in the absence and in the presence of the non-selective PDE inhibitor IBMX were performed in the isolated right ventricle of the rat. We found that glucagon produces only a minor increase of ventricular automaticity (11.0+/-4.1, n=5) when compared to the full agonist of beta-adrenoceptor isoproterenol (182.2+/-25.3, n=7). However, IBMX enhances the maximal efficacy of glucagon on cardiac automaticity (11.0+/-4.1, in the absence and 45.3+/-3.2 in the presence of IBMX, n=5, P<0.05). These results indicate that PDE blunts proarrhythmic effects of glucagon in rat myocardium.

Dissolved oxygen distribution during micro-oxygenation. Determination of representative measurement points in hydroalcoholic solution and wines.

Red wine tank aging is monitored by organoleptic analysis, therefore, it is necessary to use an objective parameter representing the process. Among the possible parameters to be checked, it stands out the knowledge of dissolved oxygen because it offers the possibility of anticipating undesirable situations that bring about too much oxidation. Dissolved oxygen measurement, with non-intrusive luminescent technology is becoming an effective alternative. Uncertainty arises when trying to choose the measuring point able to represent the entire tank since previous works have considered the existence of gradients throughout the volume of the treated wine. This paper shows the results obtained from the study of the existence and the quantification of gradients of the dissolved oxygen in a 15% hydroalcoholic solution during the micro-oxygenation process. Different measuring point placements are studied and the solutions to monitor the process by controlling a representative point are set out. A successful monitoring of a red wine tank aging with alternative oak products and adaptative micro-oxygenation has proved that an objective control of the process is, indeed, possible.

Phosphodiesterases inhibition unmask a positive inotropic effect mediated by beta2-adrenoceptors in rat ventricular myocardium.

The effects of salbutamol on contractility and cAMP levels were investigated in rat right ventricular myocardium. Salbutamol (1-300 microM), produced a concentration-dependent positive inotropic effect which was not affected by ICI 118551 (50 nM), a beta2-adrenoceptor antagonist but was abolished by CGP 20712A (1 microM) a beta1-adrenoceptor antagonist. However, in rats pretreated with pertussis toxin (30 microg/kg intraperitoneal injection) salbutamol increases contractility (Emax = 9.8 +/- 1.8%, - log EC50 = 6.25 +/- 0.07, n = 5). The combination of salbutamol + CGP 20712A, also produces a concentration-dependent enhancement of contractility (Emax = 43.0 +/- 7.5%, - log EC50 = 6.3 +/- 0.04, n = 6), in the presence of 30 microM of the non selective phosphodiesterase (PDE) inhibitor 3-isobutylmethylxantine (IBMX) which was prevented by ICI 118551 (50 nM). Also, salbutamol + CGP 20712A fail to increase cAMP tissue levels but enhance them in the presence of IBMX. This effect was also prevented by ICI 118551. These results indicate that PDEs blunt contractility and cAMP production mediated by beta2-adrenoceptors in rat ventricular myocardium. Gi protein, although less efficiently than PDEs, also limits inotropic effects of salbutamol mediated by beta2-adrenoceptors in this tissue.

Síndrome de Sezary como causa de prurito en el anciano / Sezary syndrome as pruritus cause in old age

El prurito puede definirse como una sensación especial de la piel, fisiológica o patológica, que incita a rascarse. Puede ser provocado por múltiples causas, por lo que el prurito por piel seca, especialmente en ancianos, es un diagnóstico que no debemos realizar demasiado rápidamente sin antes excluir otras causas de prurito, tanto cutáneas (psoriasis, neoplasias,...) como internas (fármacos, ferropenia, hiper o hipotiroidismo, etc.). Presentamos el caso de una mujer de 87 años de edad con prurito de larga evolución, cuyo estudio se completó con el diagnóstico de síndrome de Sezary, expresión leucémica de la micosis fungoide (linfoma cutáneo de células T). Abordamos también el diagnóstico diferencial del prurito crónico, su manejo, así como la necesaria relación entre Atención Primaria y Especializada (AU)