Differential diagnosis of orofacial melanosis

En los tejidos tegumentarios (piel y mucosas) asientan con cierta frecuencia lesiones oscuras. A menudo se forman por la inducción de los melanocitos a producir más melanina, ya sea por causas endógenas o exógenas. En otras ocasiones aparecen por la acumulación de fármacos o por la inducción al aumento de producción de melanina (10 a 20% de todos los casos de hiperpigmentación adquirida) y por depósitos focales de metales. El diagnóstico de las lesiones pigmentadas oscurasde la cavidad oral y de los tejidos periorales, en muchos casos, puede ser complicado. Por lo general, para su estudio suelen clasificarse con base en su procedencia, ya sea endógena o exógena, y a su distribución

Monitoring of engine oil aging by diffusion and low-field nuclear magnetic resonance relaxation

Time domain, also named lowfield nuclear magnetic resonance is used to monitor oil degradation by measuring relaxation and diffusion. As quality control of oils is indispensable to optimize oil change intervals while simultaneously preventing machinery damage, the technique was applied to detect the degradation state of engine oils as time domain nuclear magnetic resonance is known as a well suited tool to measure quality control parameters for example in food industry. Correlations with commonly applied oil analytics like viscosity measurements and inductively coupled plasma optical emission spectrometry allow to interpret relaxation and diffusion data in detail and finally to deepen the understanding of oil aging processes. Additionally, the measurement temperature was varied to achieve the maximum sensitivity towards oil aging. Low field NMR is not only realized in form of table top instruments, but also in form of field cycling and single sided NMR devices. Fast field cycling as well as single-sided NMR were also explored to study oil aging and to provide valuable insight. The latter device was used to obtain information about translational diffusion and transverse relaxation of oils simultaneously.Fil: Förster, Eva. Karlsruher Institut für Technologie; AlemaniaFil: Fraenza, Carla Cecilia. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Física Enrique Gaviola. Universidad Nacional de Córdoba. Instituto de Física Enrique Gaviola; Argentina. Universidad Nacional de Córdoba. Facultad de Matemática, Astronomía y Física; ArgentinaFil: Küstner, Jan. Karlsruher Institut für Technologie; AlemaniaFil: Anoardo, Esteban. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba. Instituto de Física Enrique Gaviola. Universidad Nacional de Córdoba. Instituto de Física Enrique Gaviola; Argentina. Universidad Nacional de Córdoba. Facultad de Matemática, Astronomía y Física; ArgentinaFil: Nirschl, Hermann. Karlsruher Institut für Technologie; AlemaniaFil: Guthausen, Gisela. Karlsruher Institut für Technologie; Alemani

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development

Differential diagnosis of orofacial melanosis

En los tejidos tegumentarios (piel y mucosas) asientan con cierta frecuencia lesiones oscuras. A menudo se forman por la inducción de los melanocitos a producir más melanina, ya sea por causas endógenas o exógenas. En otras ocasiones aparecen por la acumulación de fármacos o por la inducción al aumento de producción de melanina (10 a 20% de todos los casos de hiperpigmentación adquirida) y por depósitos focales de metales. El diagnóstico de las lesiones pigmentadas oscurasde la cavidad oral y de los tejidos periorales, en muchos casos, puede ser complicado. Por lo general, para su estudio suelen clasificarse con base en su procedencia, ya sea endógena o exógena, y a su distribución

Patient-reported impact of symptoms in schizophrenia scale (PRISS):development and validation

We report the psychometric properties of the Patient-Reported Impact of Symptoms in Schizophrenia Scale (PRISS), which assesses the impact of subjective experiences or qualia in outpatients with this condition. A cross-sectional study was carried out in 162 patients diagnosed with schizophrenia in Spain. The PRISS measures the presence, frequency, concern and interference with daily life of self-reported experiences related to the main symptoms observed in these patients. The psychometric analysis included test-retest reliability, internal consistency and structural and convergent validity. The 28-item PRISS showed good test-retest reliability as 64.3% of the intraclass correlation coefficient values were between 0.40 and 0.79, which were statistically significant (p  Our results indicate that the PRISS appears to be a brief, reliable and valid scale to measure subjective experiences in schizophrenia and provides valuable information complementary to clinical evaluation

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders

Abstract: Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development