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Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES) : comprehensive genetic analysis by next-generation sequencing of 480 patients

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF, including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF, 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population

Trastornos de ansiedad-depresión en contingencia común en la ciudad de Málaga

Objetivo: Proporcionar un análisis epidemiológico de los pacientes atendidos por contingencias comunes en los Centros Asistenciales de Asepeyo de Málaga y Guadalhorce bajo el diagnostico de Trastorno Mixto ansioso-depresivo. Hemos hecho un breve repaso de la patología objeto de este estudio. Método: Se realiza estudio descriptivo retrospectivo de todos los pacientes atendidos por Trastorno ansioso-depresivo por contingencia común durante un período de 2 años, entre el 1 de Enero de 2007 hasta el 31 de Diciembre de 2008. El estudio abarca 670 pacientes. Se usa la clasificación internacional de enfermedades (CIE-10) en la identificación de la patología. Resultados: El 69,10% de los casos se trababa de mujeres. El 30,14% de los afectados se encontraba entre los 26 y los 35 años. El diagnostico más frecuente es el estado de ansiedad (51,79%). La profesión con más riesgo son las relacionadas con la atención al público (47,16%). La duración media de la baja es de 136,12 días. El total de días de trabajo perdidos son 91.201. Conclusiones: El prototipo es una baja por estado de ansiedad en una mujer de entre 26-35 años que trabaja de cara al público, cuya baja dura136 días y es pago delegado. El seguimiento por el especialista de mutua reduce la duración de la baja. Palabras claves: incapacidad temporal, contingencias comunes, Trastorno ansioso-depresivo, absentismo

Molecular and clinical profile of von Willebrand disease in Spain (PCM-EVW-ES) : comprehensive genetic analysis by next-generation sequencing of 480 patients

Molecular diagnosis of patients with von Willebrand disease is pending in most populations due to the complexity and high cost of conventional molecular analyses. The need for molecular and clinical characterization of von Willebrand disease in Spain prompted the creation of a multicenter project (PCM-EVW-ES) that resulted in the largest prospective cohort study of patients with all types of von Willebrand disease. Molecular analysis of relevant regions of the VWF, including intronic and promoter regions, was achieved in the 556 individuals recruited via the development of a simple, innovative, relatively low-cost protocol based on microfluidic technology and next-generation sequencing. A total of 704 variants (237 different) were identified along VWF, 155 of which had not been previously recorded in the international mutation database. The potential pathogenic effect of these variants was assessed by in silico analysis. Furthermore, four short tandem repeats were analyzed in order to evaluate the ancestral origin of recurrent mutations. The outcome of genetic analysis allowed for the reclassification of 110 patients, identification of 37 asymptomatic carriers (important for genetic counseling) and re-inclusion of 43 patients previously excluded by phenotyping results. In total, 480 patients were definitively diagnosed. Candidate mutations were identified in all patients except 13 type 1 von Willebrand disease, yielding a high genotype-phenotype correlation. Our data reinforce the capital importance and usefulness of genetics in von Willebrand disease diagnostics. The progressive implementation of molecular study as the first-line test for routine diagnosis of this condition will lead to increasingly more personalized and effective care for this patient population