We recently identified the X-chromosomal four and a half LIM domain gene FHL1 as the causative gene for reducing body myopathy, a disorder characterized by progressive weakness and intracytoplasmic aggregates in muscle that exert reducing activity on menadione nitro-blue-tetrazolium (NBT). The mutations detected in FHL1 affected highly conserved zinc coordinating residues within the second LIM domain and lead to the formation of aggregates when transfected into cells. Our aim was to define the clinical and morphological phenotype of this myopathy and to assess the mutational spectrum of FHL1 mutations in reducing body myopathy in a larger cohort of patients. Patients were ascertained via the detection of reducing bodies in muscle biopsy sections stained with menadione-NBT followed by clinical, histological, ultrastructural and molecular genetic analysis. A total of 11 patients from nine families were included in this study, including seven sporadic patients with early childhood onset disease and four familial cases with later onset. Weakness in all patients was progressive, sometimes rapidly so. Respiratory failure was common and scoliosis and spinal rigidity were significant in some of the patients. Analysis of muscle biopsies confirmed the presence of aggregates of FHL1 positive material in all biopsies. In two patients in whom sequential biopsies were available the aggregate load in muscle sections appeared to increase over time. Ultrastructural analysis revealed that cytoplasmic bodies were regularly seen in conjunction with the reducing bodies. The mutations detected were exclusive to the second LIM domain of FHL1 and were found in both sporadic as well as familial cases of reducing body myopathy. Six of the nine mutations affected the crucial zinc coordinating residue histidine 123. All mutations in this residue were de novo and were associated with a severe clinical course, in particular in one male patient (H123Q). Mutations in the zinc coordinating residue cysteine 153 were associated with a milder phenotype and were seen in the familial cases in which the boys were still more severely affected compared to their mothers. We expect the mild end of the spectrum to significantly expand in the future. On the severe end of the spectrum we define reducing body myopathy as a progressive disease with early, but not necessarily congenital onset, distinguishing this condition from the classic essentially non-progressive congenital myopathies.

Resumen. No hay duda de que los procesos de inclusión educativa alcanzan cada vez más a niveles educativos superiores y la educación secundaria no es ajena a esta tendencia. El objetivo de este estudio es analizar el rol del profesorado de apoyo, específicamente proveniente de las unidades de apoyo a la educación especial, desde la perspectiva del profesorado y del alumnado. El estudio se lleva a cabo en un instituto de secundaria a través de la observación en el aula, la entrevista y los grupos de discusión con el fin de identificar el tipo de apoyo y las percepciones que el alumnado y el profesorado tienen de este apoyo. Los resultados muestran la necesidad de institucionalizar espacios de colaboración, la falta de tiempo en la planificación conjunta, las actitudes hacia la inclusión y la falta de formación relacionada con la inclusión del profesorado como elementos clave en el desarrollo profesional del apoyo en contextos inclusivos. Palabras clave: educación secundaria obligatoria; inclusión; apoyo; colaboración; profesorado. [en] The role of support teachers in the regular classroom of a compulsory secondary education school Abstract. There is no doubt that inclusive education processes concern higher education. This tendency is also true for secondary education. This study aims to analyse the role of support teachers, specifically all those who come from special education support units, from the perspective of teachers and students. The study is carried out in a high school through classroom observation, interview and focus group in order to identify the type of support and the perceptions that teachers and students have of this support. The results show the need to institutionalize spaces for collaborating, the lack of time for planning jointly, the attitudes toward inclusion, and the lack of training related to teachers' inclusion as key elements in the professional development of support at inclusive settings.

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During an academic year took place the experience of observing learning strategies through the development of discursive skills for academic writing with two core subjects in the Degree in Primary Education in English (DPEE). A total of N=219 students' rubrics were analyzed. The methodology was based on two instances: The text-based and documentary data analysis resulted from two factors: (a) implementation of academic writing tasks that regulated the level of student guidance: semi-guided and autonomous in textual, discursive genres: argumentation, critical reflection, and (b) a rubric for students' self-assessment. Results showed that the sample group lacked meta-cognition and had continuous deficiency in oral expression, consequently their progress fell somewhat short of expectations. However, the study resulted in facilitation of pupils' discursive oral production in the first and second years for transfer of knowledge to subsequent academic years and in potential changes to the rubric. Keywords The Context of ResearchThis study aimed (1) to improve students' discursive writing skills during their first and second years in the Degree in Primary Education in English (DPEE) at the Faculty of Educational Sciences of the Autonomous University of Barcelona (In accordance with the 2014 ARMIF call, deployment of the Guideway strategy); (2) to demonstrate how such improvement can enhance students' learning of subject matter. Achievement of these two aims depended on students' receiving sufficient guidance and support on two levels: a) First level-Discursive writing skills: For 3 months in 2014 (October-December), discursive writing skills were implemented through two tasks, the first semi-guided, aiming to consolidate criteria that students were working toward acquiring. The second, an individual and autonomous task, aimed at assessing the extent to which students applied the previously consolidated criteria. This is how the pedagogical tool's application phase is identified. Recent studies, focused on the development of writing in university foreign language courses (Byrnes, 2012; Knoch et al., 2015; Puebla, 2015; Yasuda, 2011), have contributed the data considered by this study; in other words, these studies show that when students received guidance in their academic writing, they used the newly learned terminology in their composition tasks. Another question worth exploring is the extent to which students sustained this application and transfer over time.According to Castelló (2009), discursive writing skill involves considering the following points: a) knowing and regulating text composition activities and processes; b) incorporating reasoning processes involved in writing (defining the purpose, activating relevant information, selecting an appropriate genre and type of text); c) planning, researching, selecting, understanding, and synthesizing information from various sources; d) organizing and articulating ideas; e) reviewing and controlling the text being written and, f) considering students' emotion...

El derecho a la salud en Uruguay está consagrado en la Constitución de la República y en la ley 18211 del Sistema Nacional Integrado de Salud (SNIS), sin embargo, la salud bucal de los y las jóvenes entre quince y veinticuatro años es preocupante. Las patologías bucales más prevalentes comparten con las enfermedades no transmisibles (ENT) características comunes y mediante un enfoque de riesgo común pueden ser abordadas en forma conjunta y eficiente. El derecho a la salud puede ser abordado desde la pedagogía del oprimido, que propone una perspectiva crítica y problematizadora, empleando herramientas teatrales y jueguejercicios donde los y las protagonistas participan como especta-actores.Los objetivos de este trabajo fueron desarrollar un proceso de enseñanza-aprendizaje sobre la salud bucal y su relación con las ENT con estudiantes y docentes de secundaria de las ciudades de Rocha y La Paloma y describir la situación de salud bucal de las personas jóvenes involucradas.La experiencia se desarrolló entre los meses de octubre y noviembre de 2017. Se combinaron actividades expositivas y talleres y se trabajó desde la pedagogía del oprimido y la esperanza, realizándose actividades de teatro imagen y teatro foro. Se relevó la salud bucal en cuanto a caries y paradenciopatías (Organización Mundial de la Salud, 1997) y se administró una encuesta sociodemográfica.Las personas estudiantes trabajaron como promotoras de salud, participaron de ferias estudiantiles y compartieron los contenidos abordados con estudiantes de los otros niveles del liceo. El proceso culminó con la redacción de una carta dirigida a las autoridades locales de salud, donde expresaron sus inquietudes y demandas sobre el derecho a la salud bucal y la necesidad de asistencia odontológica integral.Al comparar los datos relevados con los datos nacionales para jóvenes del interior, la situación de caries fue mejor que a nivel nacional. La frecuencia del hábito de fumar fue menor a la prevista.Al finalizar el proyecto, los y las liceales pudieron completar el proceso de trabajo, adquiriendo conocimientos de salud bucal y abogando por el derecho a la salud.