Rett syndrome (RTT) is a severe neurological disorder usually caused by mutations in the MECP2 gene. Since the MECP2 gene is located on the X chromosome, X chromosome inactivation (XCI) could play a role in the wide range of phenotypic variation of RTT patients; however, classical methylation-based protocols to evaluate XCI could not determine whether the preferentially inactivated X chromosome carried the mutant or the wild-type allele. Therefore, we developed an allele-specific methylation-based assay to evaluate methylation at the loci of several recurrent MECP2 mutations. We analyzed the XCI patterns in the blood of 174 RTT patients, but we did not find a clear correlation between XCI and the clinical presentation. We also compared XCI in blood and brain cortex samples of two patients and found differences between XCI patterns in these tissues. However, RTT mainly being a neurological disease complicates the establishment of a correlation between the XCI in blood and the clinical presentation of the patients. Furthermore, we analyzed MECP2 transcript levels and found differences from the expected levels according to XCI. Many factors other than XCI could affect the RTT phenotype, which in combination could influence the clinical presentation of RTT patients to a greater extent than slight variations in the XCI pattern.
se identifican variables asociadas a las mismas. Se hallan diferencias entre sexo y percepción cultural de género.
La investigación feminista genera otras formas de hacer ciencia. En el ámbito de las ciencias sociales, aún sigue resultando desconocida y controvertida desde el punto de vista metodológico. Las epistemologías feministas, sus principios y valores marcan las directrices metodológicas de este tipo de investigación. Hay escasos trabajos que se centren en aportar pautas aplicadas y sintéticas de lo que implica una buena práctica de investigación desde este enfoque. Por ello, nos proponemos generar, desde la evidencia, una guía con pasos metodológicos que permitan planear y diseñar la investigación feminista. También, perseguimos identificar en la literatura científica los principales desafíos metodológicos a los que se enfrenta en la actualidad este tipo de investigación. Así, realizamos una revisión de literatura reciente y referente en la materia, seleccionando tanto estudios empíricos y que recogen casos ilustrativos de investigaciones feministas como reflexiones metodológicas y revisiones publicadas en revistas de una diversidad de áreas de ciencias sociales y que cuentan con revisión por pares. El análisis de las contribuciones se realiza desde un enfoque temático y de teoría fundamentada, siguiendo procesos de codificación abierta y abductiva, donde se tienen en cuenta conceptos nucleares para las epistemologías feministas. Los procesos de análisis buscan la proyección aplicada de principios y valores de las epistemologías feministas en una estructura interpretativa que guíe y oriente la investigación. El aporte final supone disponer de una guía fundamentada y ejemplificada que permite articular futuros diseños de investigación, alertando sobre aspectos metodológicos clave para tener en cuenta. Así como también, se identifican cuatro desafíos metodológicos principales que mantienen el debate abierto en la academia en torno a la investigación feminista actual. En última instancia, el estudio invita a la reflexión sobre la tensión entre el ideal de investigación feminista, la práctica actual de esta investigación y las posibilidades metodológicas que implica su puesta en marcha.Feminist research generates other ways of doing science. In the field of social sciences, it is still unknown and controversial from a methodological point of view. Feminist epistemologies, their principles and values set the methodological guidelines for this type of research. There are few works that focus on providing applied and synthetic guidelines of what a good research practice implies from this approach. Therefore, we propose to generate, from the evidence, a guide with methodological steps that allow planning and designing feminist research. Also, we seek to identify in the scientific literature the main methodological challenges that this type of research currently faces. Thus, we conducted a review of recent and benchmark literature on the subject, selecting both empirical studies that collect illustrative cases of feminist research as well as methodological reflections and reviews published in journals from a variety of areas of social sciences and that have peer review. The analysis of the contributions is carried out from a thematic and grounded theory approach, following open and abductive coding processes, where core concepts for feminist epistemologies are taken into account. The analysis processes seek the applied projection of principles and values of feminist epistemologies in an interpretive structure that guides and orients the investigation. The final contribution involves having a well-founded and exemplified guide that allows the articulation of future research designs, warning about key methodological aspects to take into account. As well as, four main methodological challenges are identified that keep the debate open in academia around current feminist research. Ultimately, the study invites reflection on the tension between the ideal of feminist research, the current practice of this research and the methodological possibilities that its implementation implies.
El objetivo de este trabajo es conocer las habilidades en Internet de las mujeres estudiantes, estableciendo grupos de habilidades más relacionadas con la inclusión digital. Participan en el estudio 215 mujeres estudiantes españolas de 20 a 34 años de edad a través de un proceso de encuesta que incluye escalas validadas para medir las habilidades en Internet y la inclusión digital. Los resultados muestran cuatro perfiles de mujeres estudiantes en función de los tipos de habilidades en Internet y su nivel de desarrollo (principiante “beginner”, intermedio “average”, avanzado “advanced” y especializado en e-administración). Las habilidades para crear y compartir contenidos en redes sociales, así como las habilidades para la e-administración, junto con habilidades para garantizar la privacidad y la seguridad en Internet se relacionan con un grado elevado de inclusión digital en las mujeres estudiantes. Los hallazgos muestran también que las habilidades para la e-administración, y las habilidades para garantizar la seguridad y la privacidad son las que más influyen en la confianza digital. Se observa que, las habilidades para crear contenidos culturalmente relevantes y compartirlos en las redes sociales contribuyen de forma específica a elevar el grado de inclusión digital. Este tipo de habilidades propias de los procesos de inclusión social marcan la diferencia fundamental entre el grupo “avanzado” y el grupo “especializado en e-administración”. Estos resultados permiten plantear propuestas formativas que prioricen tipos de habilidades para mejorar la inclusión digital en otros perfiles de mujeres y superar nuevas brechas digitales.
Hereditary myopathies are a group of genetically determined muscle disorders comprising more than 300 entities. In Chile, there are no specific registries of the distinct forms of these myopathies. We now report the genetic findings of a series of Chilean patients presenting with limb-girdle muscle weakness of unknown etiology. Eighty-two patients were explored using high-throughput sequencing approaches with neuromuscular gene panels, establishing a definite genetic diagnosis in 49 patients (59.8%) and a highly probable genetic diagnosis in eight additional cases (9.8%). The most frequent causative genes identified were DYSF and CAPN3, accounting for 22% and 8.5% of the cases, respectively, followed by DMD (4.9%) and RYR1 (4.9%). The remaining 17 causative genes were present in one or two cases only. Twelve novel variants were identified. Five patients (6.1%) carried a variant of uncertain significance in genes partially matching the clinical phenotype. Twenty patients (24.4%) did not carry a pathogenic or likely pathogenic variant in the phenotypically related genes, including five patients (6.1%) presenting an autoimmune neuromuscular disorder. The relative frequency of the different forms of myopathy in Chile is like that of other series reported from different regions of the world with perhaps a relatively higher incidence of dysferlinopathy.
This research follows a trajectory of work in the field of women’s studies and learning with digital technologies. The research is undertaken by the DIME HUM 833 research group from University of Seville (Spain). Extensive research projects have basically focused on: (a) characterize the processes of digital inclusion and know how women (with different profiles professionals, entrepreneurs, unemployed, students ...) learn with technologies and overcome digital divides (MAIA Project), (b) to value the processes of participation and learning in social networks and their influence on the subjective and emotional well-being of women (RURAL WOMEN Project). A third research in process is presented on the line (ALCMENA Project). The aim of this project is (c) describe the situation of middle-aged and older women in the Andalusian Digital Society and learn about their experiences with digital technologies. Mixed-type research has been developed from a survey studies and qualitative studies based on techno-autobiographical interviews and thinking aloud protocols. The final sample was made up of 1340 women for the MAIA Project and specifically 478 in rural areas for the RURAL WOMEN Project. The results show a moderate degree of digital inclusion of women. The results point to the research offers a detailed knowledge of the role that current digital technologies are playing in the lives of a wide diversity of women. The results show different learning ecologies from the women with different profiles. The results are shown in detail in the book Jiménez-Cortés et al. (2016). At the same time, the research shows that participation in democratic processes online has the potential to improve the quality of life of women and gives them greater control over their lives and satisfaction. This knowledge allows women to prepare for an active and full digital citizenship, which brings them well-being. The results are shown in detail in other papers (Jiménez-Cortés, 2015; 2016). The expected results of the ALCMENA Project will show processes of digital empowerment and strategies of middle-aged and older women that serve as a reference to guide the actions of interested social agents and institutions.
La práctica de la ciudadanía digital en condiciones de equidad es uno de los principales retos políticos ante las nuevas formas de vida social, política y económica que emergen con el impacto de las TIC. El ejercicio de una ciudadanía digital activa se resume en el derecho y la capacidad para participar plenamente en la sociedad de la información con confianza, de forma segura y aprovechando al máximo su potencial en beneficio personal. Esta investigación se ocupa del grado en que las mujeres que viven en zonas rurales ejercitan su ciudadanía digital a partir del estudio de prácticas digitales concretas como la gestión de su identidad en red y la participación democrática en redes sociales. En la investigación se sigue un diseño cuantitativo basado en encuestas personales a 478 mujeres rurales andaluzas con distintos perfiles. Los resultados muestran un ejercicio de la ciudadanía digital moderado con diferencias en función del nivel educativo de las mujeres y del tamaño de su red. El estudio muestra prácticas digitales necesarias para que las mujeres rurales participen activamente en estos nuevos entornos en los que se construye la ciudadanía. De acuerdo con otros estudios, este trabajo muestra a las redes sociales como la tecnología digital con mayor potencial para la inclusión digital de las mujeres rurales y desvela cómo determinadas prácticas digitales activan la participación ciudadana e impactan en su bienestar.AbstractThe practice of the digital citizenship in conditions of equity is one of the principal political challenges for the social, political and economic new life forms.These changes emerge with the impact of the new digital technologies. The digital active citizenship is the right and the aptitude to take part in the society of the information with confidence and security. Women´s digital citizenship was a key to maximum exploitation of the benefits of ICT. This research studies the degree in which the rural women exercise his digital citizenship across a particular practices as the management of his identity and the democratic participation in social networks and its relation with the well-being. This research follow a quantitative design based on surveys to 478 rural women from Andalusia with different profiles. The results show an moderated exercise of the digital citizenship with differences to educational level and the size of the network. The study shows digital practices necessary for rural women to actively participate in these new environments in which citizenship is built. According to other studies, this study shows social networks like digital technology with the greatest potential for digital inclusion of rural women and reveals how certain digital practices activate citizen participation and impact on their well being.
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