Anàlisi citogenètica d'espermatozoides humans

Les anomalies cromosòmiques són una de les principals causes d'esterilitat en l'espècie humana. A les anomalies del cariotip, molt més freqüents en individus que consulten per problemes reproductius que en la població general, s'afegeixen les anomalies meiòtiques, limitades a la línia germinal, observades en pacients que presenten un cariotip somàtic normal. En ambdues situacions, s'ha descrit que en poden resultar espermatozoides portadors d'anomalies cromosòmiques. La producció d'aquests espermatozoides pot ser avaluada mitjançant la utilització de metodologies basades en la hibridació in situ fluorescent (FISH), i els estudis de FISH en espermatozoides s'han incorporat ràpidament als protocols d'estudi dels pacients amb problemes de fertilitat. En aquest article es revisen els resultats obtinguts en individus portadors d'anomalies numèriques per als cromosomes sexuals, en portadors d'anomalies cromosòmiques estructurals i en individus amb cariotip somàtic normal que consulten per problemes d'infertilitat; es fa també esment a la significança clínica d'aquest tipus d'estudi.Chromosome abnormalities are one of the major causes of human infertility. In infertile males, abnormal somatic karyotypes are more frequent than in the general population. Furthermore, meiotic disorders affecting the germ-cell line have been observed in men with normal somatic karyotypes consulting for infertility. In both cases, the production of unbalanced spermatozoa has been described. Basically addressed to establish reproductive risks, fluorescence in situ hybridization (FISH) on decondensed sperm nuclei has become the most frequently used method to study the chromosomal constitution of spermatozoa. This paper reviews the information obtained through sperm FISH studies in carriers of numerical sex chromosome anomalies, carriers of structural chromosome reorganizations and infertile males with normal karyotypes emphasizing on its clinical significance

High rates of de novo 15q11q13 inversions in human spermatozoa

Low-Copy Repeats predispose the 15q11-q13 region to non-allelic homologous recombination. We have already demonstrated that a significant percentage of Prader-Willi syndrome (PWS) fathers have an increased susceptibility to generate 15q11q13 deletions in spermatozoa, suggesting the participation of intrachromatid exchanges. This work has been focused on assessing the incidence of de novo 15q11q13 inversions in spermatozoa of control donors and PWS fathers in order to determine the basal rates of inversions and to confirm the intrachromatid mechanism as the main cause of 15q11q13 anomalies

Recognising oneself as educator. Findings from a case study conducted in the internship training for Social Education Bachelor's Degree.

In this paper I share the results of the analysis of a case study of a Social Education student through a qualitative enquiry with a narrative approach (Clandinin and Connelly, 1994, 2000; Van Manen, 2003, 1990). It delves into her experience and formative trajectory within the Practicum course of the Bachelor's Degree in Social Education at the University of Malaga (Spain); a course that took place during three consecutive years, oriented to the realisation of training practices in profesional contexts. The focus of this study, which is part of a larger thesis project, is to approach the development of professional knowledge in the initial training of social educators in the context of this subject. Being a social educator requires more than just knowing what to do and how to do it. Social education professionals develop their profession in situations and problems that cannot be solved by applying knowledge, but by developing practical knowledge that allows them to make situational judgements about what is appropriate and desirable (Biesta, 2013, 2017) at each moment and with each person. Initial training plays an important role in the development of professional identity and critical thinking that allows students to construct their own knowledge, which is indispensable for the educational profession exercise: determining who they want to be and how they want to do their profession. That is, learning to act on the basis of who they are, becoming aware of their own pedagogical being and taking responsibility for their actions (Blanco and Sierra, 2013). In this sense, this context of theoretical-practical and professional training is one of the most important and highly valued subjects within the Degree in Social Education, mainly due to its proximity to professional practice. During these practical periods, students attend socioeducational centres attached to the university, for several days a week, and are accompanied by an academic tutor.Universidad de Málaga. Campus de Excelencia Internacional Andalucía Tech

Diagnosing the role of the state for local collective action: Types of action situations and policy instruments

This paper presents a diagnostic approach to the role and capacity of governments to facilitate local collective action and alleviate environmental problems. The paper adds to a nascent scholarship aiming to conciliate theories on “governance by government” and “governance by self-organization”. We adopt two premises for that purpose: (1) policy instruments shall be tailored to the strategic nature of local resource management decisions; and (2) such nature is not static and can be modified via governmental policies. We first build on the Institutional Analysis and Development (IAD) framework to characterize the decision-making situations that local resource users face and the local rules that shape said situations. Then, based on common pool resource (CPR) and policy instrument choice theory, we identify four mechanisms through which different policy instruments can facilitate local collective action (change in payoffs and their perception, reduction of transaction costs, reduction of un- certainty, and normative consonance). This analytical approach is then applied to four illustrative cases of water management in Germany, France, Greece and Spain. As shown, local resource users are embedded in not one but many overlapping decision-making situations. In this context, the promotion of collective action is rarely ac- complished via a single policy instrument or mechanism but via bundles of them. Also, the paper illustrates the importance of understanding how governmental policies modify the structure of rules and incentives that affect local resource users, potentially facilitating local collective action and the solution of environmental problems

Diagnosing the role of the state for local collective action : types of action situations and policy instruments

Unidad de excelencia María de Maeztu MdM-2015-0552This paper presents a diagnostic approach to the role and capacity of governments to facilitate local collective action and alleviate environmental problems. The paper adds to a nascent scholarship aiming to conciliate theories on "governance by government" and "governance by self-organization". We adopt two premises for that purpose: (1) policy instruments shall be tailored to the strategic nature of local resource management decisions; and (2) such nature is not static and can be modified via governmental policies. We first build on the Institutional Analysis and Development (IAD) framework to characterize the decision-making situations that local resource users face and the local rules that shape said situations. Then, based on common pool resource (CPR) and policy instrument choice theory, we identify four mechanisms through which different policy instruments can facilitate local collective action (change in payoffs and their perception, reduction of transaction costs, reduction of uncertainty, and normative consonance). This analytical approach is then applied to four illustrative cases of water management in Germany, France, Greece and Spain. As shown, local resource users are embedded in not one but many overlapping decision-making situations. In this context, the promotion of collective action is rarely accomplished via a single policy instrument or mechanism but via bundles of them. Also, the paper illustrates the importance of understanding how governmental policies modify the structure of rules and incentives that affect local resource users, potentially facilitating local collective action and the solution of environmental problems

Stereoselective Synthesis of Densely Substituted Pyrrolidines via a [3 + 2] Cycloaddition Reaction between Chiral N-tert-Butanesulfinylazadienes and Azomethine Ylides

The N-tert-butanesulfinylimine group behaves as a suitable electron-withdrawing group in 1-azadienes, allowing the diastereoselective synthesis of densely substituted pyrrolidines by 1,3-dipolar cycloadditions (1,3-DCs) with azomethylene ylides. The use of Ag2CO3 as catalyst has allowed one to obtain a wide variety of proline derivatives with high regio- and diastereoselectivities. Subsequent efficient transformations provide valuable proline derivatives, some of which can be used as organocatalysts. The influence of the N-tert-butanesulfinyl group on the diastereoselectivity was studied by computational methods.We gratefully acknowledge financial support from the Spanish Ministerio de Ciencia, Innovación y Universidades (project RED2018-102387-T), the Spanish Ministerio de Economía, Industria y Competitividad, Agencia Estatal de Investigación (AEI) and Fondo Europeo de Desarrollo Regional (FEDER, EU) (projects CTQ2017-82935-P and PID2019-107268GB-I00), the Generalitat Valenciana (IDIFEDER/2021/013, GVA-COVID19/2021/079, CIDEGENT/2020/058, CIAPOT/2022/11, and APOTIP/2021/020), Medalchemy S. L. (Medalchemy-18T), and the University of Alicante (VIGROB-068, UAUSTI21-05)

Pensar escribiendo: los diarios de prácticas y el desarrollo de saberes experienciales

Raposo-Rivas, Manuela et al. (2015) Documentar y Evaluar la experiencia de los estudiantes de prácticas. Santiago de Compostela: Andavira, pp. 621-636El Practicum es un período formativo en el que nuestras/os estudiantes están muy cerca de la “practica del oficio”. Como todo oficio de lo humano, el oficio docente se desvela en toda su complejidad. Nuestras/os estudiantes descubren de forma muy viva y encarnada, que la realidad que enfrentan está atravesada de paradojas, de dificultades, de posibilidades, de frustraciones, de tensiones. El Practicum puede ser, entonces, una ocasión excepcional para acercar-los a una práctica de indagación y reflexión, tomando la (su) experiencia como eje de sentido. Lo que nos orienta es poder vincular la experiencia con el saber de la experiencia. Buscando una mediación adecuada entre la acción y la reflexión. Nos preocupa: ayudar a nuestros estudiantes a ejercitar, a cultivar y ampliar su capacidad de ver. Su capacidad reflexiva. Y su capacidad para mostrar algo de la realidad que transitan. Y lo que traemos, en este texto, es todo el trabajo que hacemos con los diarios; pues los diarios se nos revelan como una herramienta fructífera desde la que hacer este recorrido entre la experiencia, el saber de la experiencia y la experiencia de saber.Universidad de Málaga. Campus de Excelencia Internacional Andalucia Tech

Desarrollo de un sistema de workflow científico que permita la ejecución flexible de tareas en un clúster de computadores

Los workflows científicos han surgido como una tecnología que da soporte computacional en la realización de experimentos científicos. Por una parte, un workflow puede verse como una especificación abstracta de un conjunto de tareas y sus dependencias entre sí. Estas dependencias establecen qué pasos deben realizarse para acometer un experimento científico. Por otro lado, un workflow puede verse como un programa, y un sistema de gestión de workflows como un entorno de programación especializado cuyo objetivo es la simplificación de las tareas de programación necesarias que tienen que realizar los científicos. Los sistemas de gestión de workflows científicos deben hacer una gestión eficiente de los recursos computacionales, la gestión de fallos, y así como la supervisión de los resultados intermedios y finales y la reproducibilidad total del experimento. La aproximación habitual para ejecutar un workflow en entornos de ejecución diferentes como clusters, grid o cloud consiste en la traducción de una especificación abstracta del workflow en una especificación concreta teniendo en cuenta los datos y los recursos. Sin embargo, estas aproximaciones suelen estar ligadas a soluciones concretas como la generación de un DAG (Grado dirigido acíclico) y su ejecución en un entorno High Throughput computing como HTCondor. Estas aproximaciones hacen que la monitorización, tratamientos de los fallos y gestión de recursos estén ligadas al entorno de ejecución y no a los aspectos de la especificación abstracta original. El objetivo de este proyecto es desarrollar un prototipo de sistema de workflow científico que permita definir políticas de gestión de recursos y de recuperación de fallos a nivel de aplicación. Por este motivo, se proporciona una especificación de workflows que es independiente del entorno de ejecución y que proporciona mecanismos de tolerancia a fallos para tratar fallos de aplicación (v. gr. gestión de excepciones). La especificación se realiza mediante Redes de Petri y Renew, y su diseño tendrá en cuenta que pueda ejecutarse en cualquier infraestructura: clúster Condor, contendores o incluso microservicios