Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the 5'UTR of the FMR1 gene. Expansions between 55-200 CGG repeats are termed premutation and are associated with a greater risk for fragile X-associated tremor/ataxia syndrome and fragile X-associated premature ovarian insufficiency. Intermediate alleles, also called the grey zone, include approximately 45-54 repeats and are considered borderline. Individuals with less than 45 repeats have a normal FMR1 gene. We report the occurrence of CGG expansions of the FMR1 gene in Chile among patients with ID and families with a known history of FXS. Here, we present a retrospective review conducted on 2321 cases (2202 probands and 119 relatives) referred for FXS diagnosis and cascade screening at the Institute of Nutrition and Food Technology (INTA), University of Chile. Samples were analysed using traditional cytogenetic methods and/or PCR. Southern blot was used to confirm the diagnosis. Overall frequency of FMR1 expansions observed among probands was 194 (8·8%), the average age of diagnosis was 8·8 ± 5·4 years. Of 119 family members studied, 72 (60%) were diagnosed with a CGG expansion. Our results indicated that the prevalence of CGG expansions of the FMR1 gene among probands is relatively higher than other populations. The average age of diagnosis is also higher than reference values. PCR and Southern blot represent a reliable molecular technique in the diagnosis of FXS.

Este artículo fue aprobado para publicación en el v68n4 de la Revista de la Facultad de Medicina teniendo en cuenta los conceptos de los pares evaluadores y los cambios realizados por los autores según estos conceptos. Por lo tanto, se publica la versión preliminar del artículo para su consulta y citación provisional, pero debe aclararse que esta puede diferir del documento final, ya que no ha completado las etapas finales del proceso editorial (corrección de estilo, traducción y diagramación) y solo los títulos, datos de autores, palabras clave y resúmenes corresponden a la versión final del artículo.Esta versión puede consultarse, descargarse y citarse según se indique a continuación, pero debe recordarse que el documento final (PDF, HTML y XML) puede ser diferente. Cómo citar:Morrison R, Paz-Díaz C, Gutiérrez P, Frías C, Espinosa A, Soto, et al. [Efectos de la meditación activa en indicadores físicos y psicoemocionales de estrés en estudiantes universitarios en Chile. Un estudio piloto]. Rev. AbstractIn press publication Rev. Fac. Med.

A rapid method of capillary zone electrophoresis is described to determine the oxidized (GSSG) and reduced (GSH) form of glutathione in plant tissue. In order to separate both analytes in a fused-silica capillary, the pH and composition of the electrolyte solution were optimized. The electrolyte composition was 100 mmol/L, borate 25 mmol/L Tris, and 0.2% w/v metaphosphoric acid (MPA), pH 8.2. Some instrumental conditions used to run the samples were hydrostatic injection for 30 s, 30 kV applied voltage, and UV detection (185 nm) at 25 degrees C. Linearity and useful range obtained for the calibration curves were optimum, with correlation coefficients about 0.999 in the 0-120 micromol/L range. The migration time was highly reproducible, less than 5 min being afforded to run a sample. Electrolyte buffer and samples required a careful pH control for optimal separation of both analytes. This aspect constitutes a critical analytical step when acids are used in the procedure for sample preparation. Simultaneous analysis of GSH and GSSG may provide a useful tool for comparative studies of plants in order to select those species with a potential capacity for detoxification from toxic elements or those appearing promising from phytoremediation for these elements.

ResumenLa gran responsabilidad que nos depara tener a cargo la formación de los Terapeutas Ocupacionales en el área de Psiquiatría y Salud Mental a nivel de pregrado nos compromete por una parte, a una constante actualización de contenidos clínicos y procedimientos de intervención que las demandas sanitarias van determinando; por otro lado de igual forma tenemos la necesidad de ir adoptando metodologías mas efectivas del proceso enseñanza-aprendizaje de los elementos del área El trabajo que aquí presentamos constituye una evaluación parcial de la metodología que en el presente año académico se esta desarrollando en la asignatura de: Modelos de intervención de Terapia Ocupacional en Psiquiatría y Salud Mental, enmarcada en los fundamentos que originan el trabajo en una de las especialidades tradicionales de la disciplina y en la nueva visión de indusion social de la enfermedad y la discapacidad de causa psíquica. AbstractThe great responsability that affortds us to be responsible for the formation of the Occupational Therapists in the area of Psychiatry and Mental Health at pregrado levell it commits us on one hand, to a constant upgrade of clinical contents and intervention procedures that the sanitary demands go dtermining; on the otherr hand of equal it forms we have the necessity to go adopting more effective methodologies of the process teaching-learning of Ihe etements of the area. The work that here present it constitutes a partial evaluation of the methodology that presently academic year it is developing in the subject of: Models of Intervention of Occupational Therapy in Psychiatry and Mental Health, framed in the foundations that originate the work in one of the traditional specialties of the discipline and in the new vision of social inclusion of the illness and the handicapped of psychic cause.

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