An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T

CIBERER : Spanish national network for research on rare diseases: A highly productive collaborative initiative

Altres ajuts: Instituto de Salud Carlos III (ISCIII); Ministerio de Ciencia e Innovación.CIBER (Center for Biomedical Network Research; Centro de Investigación Biomédica En Red) is a public national consortium created in 2006 under the umbrella of the Spanish National Institute of Health Carlos III (ISCIII). This innovative research structure comprises 11 different specific areas dedicated to the main public health priorities in the National Health System. CIBERER, the thematic area of CIBER focused on rare diseases (RDs) currently consists of 75 research groups belonging to universities, research centers, and hospitals of the entire country. CIBERER's mission is to be a center prioritizing and favoring collaboration and cooperation between biomedical and clinical research groups, with special emphasis on the aspects of genetic, molecular, biochemical, and cellular research of RDs. This research is the basis for providing new tools for the diagnosis and therapy of low-prevalence diseases, in line with the International Rare Diseases Research Consortium (IRDiRC) objectives, thus favoring translational research between the scientific environment of the laboratory and the clinical setting of health centers. In this article, we intend to review CIBERER's 15-year journey and summarize the main results obtained in terms of internationalization, scientific production, contributions toward the discovery of new therapies and novel genes associated to diseases, cooperation with patients' associations and many other topics related to RD research

Ambiente humano: un enfoque para la formación de ciudadanos

The teaching strategies for the development of "human environment" and civic competencies were introduced and implemented via a series of educational workshops. They represent the end result of a classroom research process. The strategies were planned within the framework of the Social Pedagogy outlines contained in the Master of Education Program at the University of La Sabana, Colombia. This paper presents a focus on "human environment" as a big conceptual category that may be used to develop environmental behaviours and civic competencies at different levels (in each person, the family, the school institution, the local community and the world). These behaviours and competencies should help to improve levels of civic participation and social skills, enhancing the overall quality of life and, most especially, with regards to the idea of personal improvement when seen as an expression of human liberty. In summary, this paper describes the planning, development and follow-up process that involved eleven educational workshops, all of which dealt with the field of "human environment." The workshops were designed from conceptual elements whose aim was to sensitize both teachers and students regarding the need for personal and family growth and the inherent value of living within society, its institutions and educational communities at local and national levels.La estrategia pedagógica implementada a través de un conjunto de talleres educativos para favorecer el desarrollo de ambientes más humanos y algunas competencias ciudadanas es resultado de un proceso de investigación en aula de la línea de Pedagogía Social, del programa de Maestría en Educación de la Universidad de La Sabana. El artículo plantea el enfoque pedagógico Ambiente Humano como categoría conceptual para desarrollar comportamientos ambientales y ciudadanos que favorezcan la participación y la calidad de vida, en función tanto del perfeccionamiento personal como de la expresión de la libertad humana y del mejoramiento de habilidades sociales y de participación ciudadana. Se describen la planeación, desarrollo y seguimiento de once talleres educativos que abarcan los ámbitos de mejoramiento del ambiente humano (la persona, la familia, la institución educativa y la comunidad local-global); por lo tanto, están diseñados a partir de elementos conceptuales que sensibilizan a docentes y estudiantes sobre la necesidad de crecer en lo personal y lo familiar y de valorar la vida institucional y social tanto en lo local como en lo global

Ambiente humano: un enfoque para la formación de ciudadanos

La estrategia pedagógica implementada a través de un conjunto de talleres educativos para favorecer el desarrollo de ambientes más humanos y algunas competencias ciudadanas es resultado de un proceso de investigación en aula de la línea de Pedagogía Social, del programa de Maestría en Educación de la Universidad de La Sabana. El artículo plantea el enfoque pedagógico Ambiente Humano como categoría conceptual para desarrollar comportamientos ambientales y ciudadanos que favorezcan la participación y la calidad de vida, en función tanto del perfeccionamiento personal como de la expresión de la libertad humana y del mejoramiento de habilidades sociales y de participación ciudadana. Se describen la planeación, desarrollo y seguimiento de once talleres educativos que abarcan los ámbitos de mejoramiento del ambiente humano (la persona, la familia, la institución educativa y la comunidad local-global); por lo tanto, están diseñados a partir de elementos conceptuales que sensibilizan a docentes y estudiantes sobre la necesidad de crecer en lo personal y lo familiar y de valorar la vida institucional y social tanto en lo local como en lo global.<br>The teaching strategies for the development of "human environment" and civic competencies were introduced and implemented via a series of educational workshops. They represent the end result of a classroom research process. The strategies were planned within the framework of the Social Pedagogy outlines contained in the Master of Education Program at the University of La Sabana, Colombia. This paper presents a focus on "human environment" as a big conceptual category that may be used to develop environmental behaviours and civic competencies at different levels (in each person, the family, the school institution, the local community and the world). These behaviours and competencies should help to improve levels of civic participation and social skills, enhancing the overall quality of life and, most especially, with regards to the idea of personal improvement when seen as an expression of human liberty. In summary, this paper describes the planning, development and follow-up process that involved eleven educational workshops, all of which dealt with the field of "human environment." The workshops were designed from conceptual elements whose aim was to sensitize both teachers and students regarding the need for personal and family growth and the inherent value of living within society, its institutions and educational communities at local and national levels

Ambiente humano: un enfoque para la formación de ciudadanos

La estrategia pedagógica implementada a través de un conjunto de talleres educativos para favorecer el desarrollo de ambientes más humanos y algunas competencias ciudadanas es resultado de un proceso de investigación en aula de la línea de Pedagogía Social, del programa de Maestría en Educación de la Universidad de La Sabana. El artículo plantea el enfoque pedagógico Ambiente Humano como categoría conceptual para desarrollar comportamientos ambientales y ciudadanos que favorezcan la participación y la calidad de vida, en función tanto del perfeccionamiento personal como de la expresión de la libertad humana y del mejoramiento de habilidades sociales y de participación ciudadana. Se describen la planeación, desarrollo y seguimiento de once talleres educativos que abarcan los ámbitos de mejoramiento del ambiente humano (la persona, la familia, la institución educativa y la comunidad local-global); por lo tanto, están diseñados a partir de elementos conceptuales que sensibilizan a docentes y estudiantes sobre la necesidad de crecer en lo personal y lo familiar y de valorar la vida institucional y social tanto en lo local como en lo global.The teaching strategies for the development of "human environment" and civic competencies were introduced and implemented via a series of educational workshops. They represent the end result of a classroom research process. The strategies were planned within the framework of the Social Pedagogy outlines contained in the Master of Education Program at the University of La Sabana, Colombia. This paper presents a focus on "human environment" as a big conceptual category that may be used to develop environmental behaviours and civic competencies at different levels (in each person, the family, the school institution, the local community and the world). These behaviours and competencies should help to improve levels of civic participation and social skills, enhancing the overall quality of life and, most especially, with regards to the idea of personal improvement when seen as an expression of human liberty. In summary, this paper describes the planning, development and follow-up process that involved eleven educational workshops, all of which dealt with the field of "human environment." The workshops were designed from conceptual elements whose aim was to sensitize both teachers and students regarding the need for personal and family growth and the inherent value of living within society, its institutions and educational communities at local and national levels

Los retos del director escolar novel: formación inicial y liderazgo

10 páginasThis research responds to the need to examine in depth the problems faced by novice principals in Latin America and to determine their professional development needs. Framed in a qualitative descriptive and interpretative study, interviews were carried out with novice principals in Colombia, where research about school principals is scarce. The study aims to describe and analyze the difficulties of a group of novice principals in their first years in their jobs. The results show that the complexity and peculiar characteristics of each institution, given by the context, the lack of financial resources and trained support teams in different management areas, coupled with gaps in principals’ preparation, outweigh their good intentions and limit the time they devote to their work. The study proposes to develop a leadership that enables novel principals to incorporate the systemic characteristics of people, institutions and contexts in their decision-making processes. I also highlights the need to foster in preparation programs the search for complete and integrative explanations to seek effective responses to the complex, dynamic school realities.Esta investigación responde a la necesidad de profundizar sobre las problemáticas que enfrenta el director escolar novel en Latinoamérica y sus necesidades de formación. En un marco cualitativo descriptivo e interpretativo, se han entrevistado directores escolares principiantes en Colombia, país donde el estudio sobre este tópico es un campo incipiente. El propósito de este artículo es describir y analizar las dificultades del directivo escolar en sus primeros años. Los resultados señalan que la complejidad y las características peculiares de cada institución, dadas por el contexto, la carencia de recursos financieros y de equipos de apoyo capacitados en los diferentes ámbitos de la gestión, aunados a los vacíos en la formación desbordan sus buenas intenciones y el tiempo real disponible que dedican a su labor. El estudio propone desarrollar un liderazgo escolar que habilite al director novel para incorporar las características sistémicas de las personas, las instituciones y los contextos en la toma de decisiones. Resalta además la necesidad de potenciar en los programas de formación la búsqueda de explicaciones más completas e integradoras para dar respuestas efectivas a los desafíos de realidades escolares, complejas, poliédricas y dinámicas

Challenges facing novice principals: A study in Colombian schools using a socialisation perspective

18 p�ginasThis research examined challenges faced by novice principals in Colombia in connecting_x000D_ to their school communities through their socialisation processes. Interviews with 37_x000D_ newly appointed principals in rural and urban schools revealed that the complexity of_x000D_ their school contexts accentuated the need to work on the relational dimension of their_x000D_ jobs. Forging relationships with teachers and parents based on trust and communication,_x000D_ introspection and knowledge about their school communities emerged as crucial factors_x000D_ to foster social justice and to transcend deficit views of their communities. The article_x000D_ questions the role of supporting services for novice principals, emphasises the_x000D_ importance of organisational socialisation, and stresses the role of preparation programs_x000D_ in providing principals with tools for learning during this phase of their professional_x000D_ careers

Case Report An Active Isodicentric X Chromosome in a Case of Refractory Anaemia with Ring Sideroblasts Associated with Marked Thrombocytosis

Refractory anaemia with ring sideroblasts and marked thrombocytosis (RARS-T) is a provisional entity in the World Health Organization (WHO) classification. It displays features characteristic of both myelodysplastic syndrome and myeloproliferative neoplasia plus ring sideroblasts ≥15% and marked thrombocytosis. Most patients with RARS-T show a normal karyotype. We report a 76-year-old woman diagnosed with RARS-T (76% of ring sideroblasts) with JAK2 (V617F) mutation and a load of 30-40%. Classical and molecular cytogenetic (FISH) studies of a bone marrow sample revealed the presence of isodicentric X chromosome [(idic(X)(q13)]. Moreover, HUMARA assay showed the idic(X)(q13) as the active X chromosome. This finding was correlated with the cytochemical finding of ring sideroblasts. To our knowledge, this is the first reported case of an active isodicentric X in a woman with RARS-T

Contemporary use of cefazolin for MSSA infective endocarditis: analysis of a national prospective cohort

Objectives: This study aimed to assess the real use of cefazolin for methicillin-susceptible Staphylococcus aureus (MSSA) infective endocarditis (IE) in the Spanish National Endocarditis Database (GAMES) and to compare it with antistaphylococcal penicillin (ASP). Methods: Prospective cohort study with retrospective analysis of a cohort of MSSA IE treated with cloxacillin and/or cefazolin. Outcomes assessed were relapse; intra-hospital, overall, and endocarditis-related mortality; and adverse events. Risk of renal toxicity with each treatment was evaluated separately. Results: We included 631 IE episodes caused by MSSA treated with cloxacillin and/or cefazolin. Antibiotic treatment was cloxacillin, cefazolin, or both in 537 (85%), 57 (9%), and 37 (6%) episodes, respectively. Patients treated with cefazolin had significantly higher rates of comorbidities (median Charlson Index 7, P <0.01) and previous renal failure (57.9%, P <0.01). Patients treated with cloxacillin presented higher rates of septic shock (25%, P = 0.033) and new-onset or worsening renal failure (47.3%, P = 0.024) with significantly higher rates of in-hospital mortality (38.5%, P = 0.017). One-year IE-related mortality and rate of relapses were similar between treatment groups. None of the treatments were identified as risk or protective factors. Conclusion: Our results suggest that cefazolin is a valuable option for the treatment of MSSA IE, without differences in 1-year mortality or relapses compared with cloxacillin, and might be considered equally effective