Eosinofilia, elevación de proteína C-reactiva y fiebre inducidos por clozapina / Clozapine-induced eosinophilia, elevated C-reactive protein and fever

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Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect.

Autosomal recessive congenital ichthyosis (ARCI) is a group of rare non-syndrome diseases that affect cornification. PNPLA1 is one of the 12 related genes identified so far. Mutation screening of this gene has resulted in the identification of 13 individuals, from 10 families, who carried 7 different PNPLA1 mutations. These mutations included 2 missense, 2 frame-shift and 3 nonsense, 3 of them being novel. One of the identified variants, c.417_418delinsTC, was highly prevalent, as it was found in 6 out of 10 (60%) of our ARCI families with PNPLA1 mutations. Clinical manifestations varied significantly among patients, but altered sweating; erythema, palmar hyperlinearity and small whitish scales in flexor-extensor and facial areas were common symptoms. Haplotype analyses of c.417_418delinsTC carriers confirmed the existence of a common ancestor. This study expands the spectrum of the PNPLA1 disease, which causes variants and demonstrates that the c.417_418delinsTC mutation has founder effects in the Spanish population.

Influencias genéticas y ambientales en rasgos psicológicos y actitudes alimentarias en una población escolar española / Genetic and environmental influences on psychological traits and eating attitudes in a sample of Spanish schoolchildren

Introducción. La heredabilidad de los trastornos de la conducta alimentaria, como la anorexia nerviosa y la bulimia nerviosa, se ha estimado alrededor del 22% al 62%. El objetivo del presente trabajo es determinar la influencia de los factores genéticos y ambientales que contribuyen en la expresión de los factores psicológicos medidos a través del Eating Disorders Inventory, en función del sexo, en adolescentes de la Comunidad Valenciana (España). Material y métodos. Quinientas ochenta y cuatro parejas de gemelos de 13 a 18 años de edad. Para determinar la cigosidad los profesores rellenaron un cuestionario de similitud física. Se aplicaron las subescalas del Eating Disorders Inventory, impulso a la delgadez, insatisfacción corporal, perfeccionismo e ineficacia. Se ha realizado una modelización de las mismas para establecer los componentes genéticos y ambientales (comunes y específicos) de su varianza. Resultados. En las niñas las 4 variables mostraron un componente de heredabilidad, del 37,7% para la ineficacia, del 42,8% para el perfeccionismo, del 56,9% para el impulso a la delgadez y del 65,5% para la insatisfacción corporal. En los niños se descarta una influencia genética para la insatisfacción corporal, que aparece influenciada exclusivamente por factores ambientales. El resto de variables mostraron un componente heredable, pero en menor medida que en las niñas. Conclusiones. A excepción de la IC en niños, las actitudes y comportamientos alimentarios muestran un patrón parcialmente heredable, que varía en función del sexo (AU)

Introduction. The heritability of eating disorders has been estimated to range from 22% to over 62%.The aim of this study is to determine the relative influence of genetics and environment that contribute to the drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness, by evaluating sex differences in a sample of adolescent twins from Valencia, Spain. Material and methods. Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study. To determine zygosity, teachers responded to a questionnaire on physical similarity. Psychological traits of eating disorders were assessed with four sub-scales of the Eating Disorder Inventory (EDI); drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness. Twin models were used to assess genetic and environmental (common and unique) factors affecting these four psychological traits. Results. All four traits showed significant genetic contributions among girls, with heritability estimates of 37.7% for ineffectiveness, 42.8% for perfectionism, 56.9% for drive for thinness, and 65.5% for body dissatisfaction. Among boys, body dissatisfaction showed no additive genetic contributions, indicating significant shared and individual specific environment effects. The three other traits in boys showed significant additive genetic contributions, but were lower than in girls. Conclusions. With the exception of body dissatisfaction in boys, psychological traits of eating disorders show heritability patterns that differ according to sex (AU)

Genetic and environmental influences on psychological traits and eating attitudes in a sample of Spanish schoolchildren. / Influencias genéticas y ambientales en rasgos psicológicos y actitudes alimentarias en una población escolar española.

INTRODUCTION: The heritability of eating disorders has been estimated to range from 22% to over 62%.The aim of this study is to determine the relative influence of genetics and environment that contribute to the drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness, by evaluating sex differences in a sample of adolescent twins from Valencia, Spain. MATERIAL AND METHODS: Five hundred eighty-four pairs of adolescent twins between 13 and 18 years of age completed the study. To determine zygosity, teachers responded to a questionnaire on physical similarity. Psychological traits of eating disorders were assessed with four sub-scales of the Eating Disorder Inventory (EDI); drive for thinness, body dissatisfaction, perfectionism, and ineffectiveness. Twin models were used to assess genetic and environmental (common and unique) factors affecting these four psychological traits. RESULTS: All four traits showed significant genetic contributions among girls, with heritability estimates of 37.7% for ineffectiveness, 42.8% for perfectionism, 56.9% for drive for thinness, and 65.5% for body dissatisfaction. Among boys, body dissatisfaction showed no additive genetic contributions, indicating significant shared and individual specific environment effects. The three other traits in boys showed significant additive genetic contributions, but were lower than in girls. CONCLUSIONS: With the exception of body dissatisfaction in boys, psychological traits of eating disorders show heritability patterns that differ according to sex.

Genetic and environmental contributions to perfectionism and its common factors.

UNLABELLED: The aims of this study: (1) To evaluate the relative contributions of genetics and environment to perfectionism and it's two constructs: self-oriented, and socially prescribed perfectionism. (2) To clarify genetic and environmental common origins of both personal and social components. METHODS: Participants were 258 pairs of adolescent Spanish twins. Socially prescribed and self-oriented perfectionism were assessed using the perfectionism subscale of the Eating Disorder Inventory. STATISTICS: univariate and bivariate twin models, according to sex. Results; Heritability of self-oriented perfectionism was 23% in boys and 30% in girls, and of socially prescribed perfectionism 39% in boys and 42% in girls. Bivariate analysis suggested a common genetic and environmental pathway model. The genetic correlation between both perfectionisms was 0.981 in boys and 0.704 in girls. The non-shared environmental correlation was 0.254 in boys and 0.259 in girls. Conclusions; genetic influences on perfectionism are moderate during adolescence. Our results point toward a shared genetic component underlying both kind of perfectionism. These findings generate doubts about the hypothesis of a leading role of genetics in the pathogenesis of Self-oriented perfectionism and of environment in socially prescribed. The high genetic correlation seems to indicate that self-oriented and socially prescribed are the same dimension of perfectionism.

Prevalencia y comorbilidad del Trastorno de Ansiedad Generalizada en una muestra española de escolares adolescentes / Prevalence and comorbidity of generalized anxiety disorder in a sample of spanish adolescent schoolchildren

Los datos epidemiológicos del Trastorno Ansiedad Generalizada (TAG) son relativamente escasos en niños y adolescentes. Este estudio pretende determinar la prevalencia y comorbilidad del TAG en una muestra de adolescentes escolares de la provincia de Valencia. La población evaluada, con edades comprendidas entre 12 y 16 años (14.04 ± 1.22), procedía de centros con Enseñanza Secundaria Obligatoria. Diseño transversal, empleando una entrevista diagnóstica (K-SADS) llevada a cabo por profesionales de salud mental, en una única intervención. La muestra definitiva, 962 participantes, presentaba una prevalencia global del TAG del 3% (2,4% varones; 3,7% mujeres). La prevalencia era máxima, para ambos grupos, a los 14 años de edad. El 58% de los participantes con TAG presentaban, al menos, otro diagnóstico psiquiátrico siendo el más frecuente el de otro trastorno de ansiedad (48,3%). Los niveles de prevalencia y comorbilidad obtenidos, en ausencia de datos previos en nuestro entorno, son similares a los descritos en otros medios; por ello, su detección precoz permitiría una intervención temprana

The epidemiological data on Generalized Anxiety Disorder (GAD) are relatively scant in children and adolescents. This study attempts to determine the prevalence and comorbidity of GAD in a sample of adolescent schoolchildren from the province of Valencia. The study population, aged from 12 to16 years(14.04 ± 1.22), came from a series of secondary schools. The study has a crossover design, using a diagnostic interview (K-SADS) conducted by mental health professionals with a single intervention. The prevalence rate for GAD in the final sample of 962 individuals was 3% (2.4% males; 3.7% females). Prevalence was highest for both groups at 14 years of age. Of the participants with GAD, 58% had at least one other psychiatric diagnosis, the most common being another anxiety disorder (48.3%). The prevalence and comorbidity rates found, in the absence of any prior data in our environment, are similar to those described in other settings; therefore, early detection would allow early intervention