Sistemas de aprendizajes e inclusión educativa: Procesos cognitivos interactividad Learning Systems And School inclusion: Cognitive Processes and interactivity

El objeto de esta línea de investigaciónª, es el de documentar micro procesos cotidianos que pueden favorecer la inclusión de los sujetos en las instituciones educativas. Se han indagado sistemas de aprendizaje que describen las relaciones entre dos entornos educativos cotidianos: familia y escuela en las continuidades-discontinuidades que presentan. Para este propósito se han ponderado los ejes temáticos referido a " deberes escolares" y actividades "tutoriales" por ser éstos espacios cotidianos de interacción entre alumnos, docentes y padres. Se ha ponderado el nivel de análisis psicológico en lo referido a procesos cognitivos involucrados en las actividades de aprendizaje en sus contextos. Dados los altos índices de "fracaso escolar" la investigación se ha centrado en el estudio de los primeros ciclos de educación básica y media.<br>The purpose of this line of research in Educational Psychology is to identify the elements that favor school's inclusion. This study aims to examine activities and learning systems permitting to describe the relationships between two different quotidian educational environments: school and family. It undertakes the description and analysis of the continuity-discontinuity lines that exist between them. In order to do that, two different topics have been given a special significance: "homework" and existing "tutoring practices". Both of them are considered as daily interaction spaces between students, teachers and parents. Here, a special care is given to the psychological analysis referred to the cognitive processes involved in different learning activities in their contexts. The investigation is focused on the study of the firsts levels of elementary and high school education, given the high ratio of "school failure" found there

Familial porphyria cutanea tarda: characterization of seven novel uroporphyrinogen decarboxylase mutations and frequency of common hemochromatosis alleles.

Familial porphyria cutanea tarda (f-PCT) results from the half-normal activity of uroporphyrinogen decarboxylase (URO-D). Heterozygotes for this autosomal dominant trait are predisposed to photosensitive cutaneous lesions by various ecogenic factors, including iron overload and alcohol abuse. The 3.6-kb URO-D gene was completely sequenced, and a long-range PCR method was developed to amplify the entire gene for mutation analysis. Four missense mutations (M165R, L195F, N304K, and R332H), a microinsertion (g10insA), a deletion (g645Delta1053), and a novel exonic splicing defect (E314E) were identified. Expression of the L195F, N304K, and R332H polypeptides revealed significant residual activity, whereas reverse transcription-PCR and sequencing demonstrated that the E314E lesion caused abnormal splicing and exon 9 skipping. Haplotyping indicated that three of the four families with the g10insA mutation were unrelated, indicating that these microinsertions resulted from independent mutational events. Screening of nine f-PCT probands revealed that 44% were heterozygous or homozygous for the common hemochromatosis mutations, which suggests that iron overload may predispose to clinical expression. However, there was no clear correlation between f-PCT disease severity and the URO-D and/or hemochromatosis genotypes. These studies doubled the number of known f-PCT mutations, demonstrated that marked genetic heterogeneity underlies f-PCT, and permitted presymptomatic molecular diagnosis and counseling in these families to enable family members to avoid disease-precipitating factors