Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome

Background: Lynch syndrome (LS) is an autosomal dominant inherited cancer syndrome characterized by early onset cancers of the colorectum, endometrium and other tumours. A significant proportion of DNA variants in LS patients are unclassified. Reports on the pathogenicity of the c.1852_1853AA>GC (p.Lys618Ala) variant of the MLH1 gene are conflicting. In this study, we provide new evidence indicating that this variant has no significant implications for LS.Methods: The following approach was used to assess the clinical significance of the p.Lys618Ala variant: frequency in a control population, case-control comparison, co-occurrence of the p.Lys618Ala variant with a pathogenic mutation, co-segregation with the disease and microsatellite instability in tumours from carriers of the variant. We genotyped p.Lys618Ala in 1034 individuals (373 sporadic colorectal cancer [CRC] patients, 250 index subjects from families suspected of having LS [revised Bethesda guidelines] and 411 controls). Three well-characterized LS families that fulfilled the Amsterdam II Criteria and consisted of members with the p.Lys618Ala variant were included to assess co-occurrence and co-segregation. A subset of colorectal tumour DNA samples from 17 patients carrying the p.Lys618Ala variant was screened for microsatellite instability using five mononucleotide markers.Results: Twenty-seven individuals were heterozygous for the p.Lys618Ala variant; nine had sporadic CRC (2.41%), seven were suspected of having hereditary CRC (2.8%) and 11 were controls (2.68%). There were no significant associations in the case-control and case-case studies. The p.Lys618Ala variant was co-existent with pathogenic mutations in two unrelated LS families. In one family, the allele distribution of the pathogenic and unclassified variant was in trans, in the other family the pathogenic variant was detected in the MSH6 gene and only the deleterious variant co-segregated with the disease in both families. Only two positive cases of microsatellite instability (2/17, 11.8%) were detected in tumours from p.Lys618Ala carriers, indicating that this variant does not play a role in functional inactivation of MLH1 in CRC patients.Conclusions: The p.Lys618Ala variant should be considered a neutral variant for LS. These findings have implications for the clinical management of CRC probands and their relatives.

Collage, a Collaborative Learning Design Editor Based on Patterns

This paper introduces Collage, a high-level IMS-LD compliant authoring tool that is specialized for CSCL (Computer-Supported Collaborative Learning). Nowadays CSCL is a key trend in elearning since it highlights the importance of social interactions as an essential element of learning. CSCL is an interdisciplinary domain, which demands participatory design techniques that allow teachers to get directly involved in design activities. Developing CSCL designs using LD is a difficult task for teachers since LD is a complex technical specification and modelling collaborative characteristics can be tricky. Collage helps teachers in the process of creating their own potentially effective collaborative Learning Designs by reusing and customizing patterns, according to the requirements of a particular learning situation. These patterns, called Collaborative Learning Flow Patterns (CLFPs), represent best practices that are repetitively used by practitioners when structuring the flow of (collaborative) learning activities. An example of an LD that can be created using Collage is illustrated in the paper. Preliminary evaluation results show that teachers, with experience in CL but without LD knowledge, can successfully design real collaborative learning experiences using Collage.

Supporting the reuse of effective CSCL learning designs through social structure representations

Distance and blended collaborative learning settings are usually characterized by different social structures defined in terms of groups' number, dimension, and composition; these structures are variable and can change within the same activity. This variability poses additional complexity to instructional designers, when they are trying to develop successful experiences from existing designs. This complexity is greatly associated with the fact that learning designs do not render explicit how social structures influenced the decisions of the original designer, and thus whether the social structures of the new setting could preclude the effectiveness of the reused design. This article proposes the usage of new representations (social structure representations, SSRs) able to support unskilled designers in reusing existing learning designs, through the explicit characterization of the social structures and constraints embedded either by the original designers or the reusing teachers, according to well-known principles of good collaborative learning practice. The article also describes an evaluation process that involved university professors, as well as the main findings derived from it. This process supported the initial assumptions about the effectiveness of SSRs, with significant evidence from both qualitative and qualitative data.

Computational Representation of Collaborative Learning Flow Patterns Using IMS Learning Design

The identification and integration of reusable and customizable CSCL (Computer Supported Collaborative Learning) may benefit from the capture of best practices in collaborative learning structuring. The authors have proposed CLFPs (Collaborative Learning Flow Patterns) as a way of collecting these best practices. To facilitate the process of CLFPs by software systems, the paper proposes to specify these patterns using IMS Learning Design (IMS-LD). Thus, teachers without technical knowledge can particularize and integrate CSCL tools. Nevertheless, the support of IMS-LD for describing collaborative learning activities has some deficiencies: the collaborative tools that can be defined in these activities are limited. Thus, this paper proposes and discusses an extension to IMS-LD that enables to specify several characteristics of the use of tools that mediate collaboration. In order to obtain a Unit of Learning based on a CLFP, a three stage process is also proposed. A CLFP-based Unit of Learning example is used to illustrate the process and the need of the proposed extension.

Towards reusability and tailorability in collaborative learning systems using IMS-LD and grid services

CSCL applications are complex distributed systems that posespecial requirements towards achieving success in educationalsettings. Flexible and efficient design of collaborative activitiesby educators is a key precondition in order to provide CSCL tailorable systems, capable of adapting to the needs of eachparticular learning environment. Furthermore, some parts ofthose CSCL systems should be reused as often as possible inorder to reduce development costs. In addition, it may be necessary to employ special hardware devices, computational resources that reside in other organizations, or even exceed thepossibilities of one specific organization. Therefore, theproposal of this paper is twofold: collecting collaborativelearning designs (scripting) provided by educators, based onwell-known best practices (collaborative learning flow patterns) in a standard way (IMS-LD) in order to guide the tailoring of CSCL systems by selecting and integrating reusable CSCL software units; and, implementing those units in the form of grid services offered by third party providers. More specifically, this paper outlines a grid-based CSCL system having these features and illustrates its potential scope and applicability by means of a sample collaborative learning scenario.

A multicase study for the evaluation of a pattern-based visual design process for collaborative learning

Collage is a pattern-based visual design authoring tool for the creation of collaborative learning scripts computationally modelled with IMS Learning Design (LD). The pattern-based visual approach aims to provide teachers with design ideas that are based on broadly accepted practices. Besides, it seeks hiding the LD notation so that teachers can easily create their own designs. The use of visual representations supports both the understanding of the design ideas and the usability of the authoring tool. This paper presents a multicase study comprising three different cases that evaluate the approach from different perspectives. The first case includes workshops where teachers use Collage. A second case implies the design of a scenario proposed by a third-party using related approaches. The third case analyzes a situation where students follow a design created with Collage. The cross-case analysis provides a global understanding of the possibilities and limitations of the pattern-based visual design approach.

Free-and open source software for a course on network management: authoring and enactment of scripts based on collaborative learning strategies

This paper describes a Computer-Supported Collaborative Learning (CSCL) case study in engineering education carried out within the context of a network management course. The case study shows that the use of two computing tools developed by the authors and based on Free- and Open-Source Software (FOSS) provide significant educational benefits over traditional engineering pedagogical approaches in terms of both concepts and engineering competencies acquisition. First, the Collage authoring tool guides and supports the course teacher in the process of authoring computer-interpretable representations (using the IMS Learning Design standard notation) of effective collaborative pedagogical designs. Besides, the Gridcole system supports the enactment of that design by guiding the students throughout the prescribed sequence of learning activities. The paper introduces the goals and context of the case study, elaborates onhow Collage and Gridcole were employed, describes the applied evaluation methodology, anddiscusses the most significant findings derived from the case study.

Reusing IMS-LD formalized best practices in collaborative learning structuring

Designs of CSCL (Computer Supported Collaborative Learning)activities should be flexible, effective and customizable toparticular learning situations. On the other hand, structureddesigns aim to create favourable conditions for learning. Thus,this paper proposes the collection of representative and broadlyaccepted (best practices) structuring techniques in collaborative learning. With the aim of establishing a conceptual common ground among collaborative learning practitioners and softwaredevelopers, and reusing the expertise that best practicesrepresent, the paper also proposes the formulation of these techniques as patterns: the so-called CLFPs (CollaborativeLearning Flow Patterns). To formalize these patterns, we havechosen the educational modelling language IMS Learning Design (IMS-LD). IMS-LD has the capability to specify many of the collaborative characteristics of the CLFPs. Nevertheless, the language bears limited capability for describing the services that mediate interactions within a learning activity and the specification of temporal or rotated roles. This analysis isdiscussed in the paper, as well as our approaches towards thedevelopment of a system capable of integrating tools using IMSLDscripts and a CLFP-based Learning Design authoring tool.

Applying recommendations to aligncompetences, methodology and assessment in Telematics, Computing and Electronic Engineering courses

The alignment between competences, teaching-learning methodologies and assessment is a key element of the European Higher Education Area. This paper presents the efforts carried out by six Telematics, Computer Science and Electronic Engineering Education teachers towards achieving this alignment in their subjects. In a joint work with pedagogues, a set of recommended actions were identified. A selection of these actions were applied and evaluated in the six subjects. The cross-analysis of the results indicate that the actions allow students to better understand the methodologies and assessment planned for the subjects, facilitate (self-) regulation and increase students’ involvement in the subjects.

Aplicación de recomendaciones en pro de la alineación entre competencias-metodología-evaluación en asignaturas de ingeniería telemática.

Este trabajo recoge la experiencia llevada a cabo en tres asignaturas en cuanto a la aplicación de recomendaciones (acciones) dirigidas a la mejora de la alineación entre las competencias planteadas en los respectivos planes docentes, la metodología para trabajarlas y evaluación de las mismas. Concretamente las asignaturas que han puesto en marcha estas recomendaciones pertenecen a la Universidad Pompeu Fabra (una asignatura) y a la Universidad de Valladolid (las otras dos) todas pertenecientes al área de Ingeniería Telemática. Además de incluir una breve descripción de las recomendaciones aplicadas se presenta el contexto de cada caso (características básicas de las asignaturas), el proceso seguido durante su aplicación así como la evaluación llevada a cabo (tanto durante el proceso de aplicacióncomo al finalizar) para conocer el nivel de satisfacción tanto del colectivo discente como del docente. Finalmente se incluyen las reflexiones realizadas en forma de conclusiones que giran entorno a dos ejes: el primero de ellos es el impacto de la aplicación de las recomendaciones en la calidad de la función docente y el segundo hace referencia al aumento de la visibilidad de esta relación desde la perspectiva discente y las repercusiones en su proceso de aprendizaje.

La evaluación como elemento clave de la formación basada en competencias: tres casos en el ámbito de la ingenierías

El Espacio Europeo de Educación Superior implica cambios organizativos y académicos referentes a la formación basada en competencias. El proyecto AlineaME, coordinado por la Unidad de Soporte a la Calidad y la Innovación Docente de la Escuela Superior Politécnica - Universidad Pompeu Fabra, propuso a docentes del área TIC y a pedagogos la reflexión conjunta en aras a diseñar recomendaciones centradas en la alineación entre los tres elementos clave del proyecto: competencias, metodología y evaluación (C*M*E). Este trabajo recoge tres casos de aplicación de recomendaciones, concretamente de Ingeniería Telemática (dos casos - Universidad de Valladolid y Pompeu Fabra) y de Ingeniería Técnica en Informática de Gestión (un caso - Universidad de Sevilla).Las recomendaciones aplicadas hacen referencia a la necesidad de explicitar la alineación C*M*E en los Planes Docentes de Asignaturas y de presentar esta alineación al estudiantado. También a la integración de la evaluación de la asignatura como tarea-proceso de aprendizaje. La metodología seguida para laaplicación de ambas es (salvo pequeñas diferencias) parecida en los tres casos. La primera recomendación consistió en recoger en el Plan Docente la Alineación y en verbalizar dicha alineación en la sesión de presentación de la asignatura. La segunda se incorporó incluyendo actividades formativas en las que se favorecía la evaluación entre iguales. Para evaluar la aplicación de recomendaciones se recogieron evidencias en clave de satisfacción por parte del estudiantado así como valoraciones de los propios docentes. Para ello se diseñaron instrumentos específicos.En cuanto a la presentación de la alineación C*M*E en los Planes Docentes de asignaturas, los resultados indican que los alumnos son más conscientes de qué, cómo y por qué van a trabajar y ser evaluados. Globalmente valoran positivamente su utilidad para la autorregulación. Asimismo, plantear la evaluación como tarea deaprendizaje resultó ser para los estudiantes un interesante elemento de reflexión.

La Renovación de la atención primaria desde la consulta

Texto y contexto que responden claramente al título bajo la batuta dedos médicos de familia, Josep Casajuana y Juan Gérvas, que aman suprofesión pero que, sobre todo, llevan décadas impulsando iniciativasclínicas, gestoras y de investigación para mejorar la atención a lospacientes. De ellos (y Mercedes Pérez) son los dos capítulos inicialesque sitúan el tema: qué cambios pueden impulsar los profesionalespara recuperar el protagonismo y liberarse de ataduras y complejos ycómo, de manera muy práctica, se combina ciencia y tecnología paraobtener lo mejor de los valores y tiempo del profesional comprometido.Para acabar de tener consciencia de la situación y organización de laatención primaria en España, analizan en los dos capítulos siguientes(junto con Marc Casajuana y Roberto Sánchez) qué supone ser médicode familia en Europa y cómo en un día cualquiera se resuelven hasta17 problemas distintos de atención y seguimiento.El contexto de la consulta –en la segunda mitad del libro– plantea larenovación como exigencia social aportando investigación originalsobre: 1) cómo lo que vamos aprendiendo acerca de la elección deespecialidad médica puede ayudar a refundar la Medicina de Familia yComunitaria (Patricia Barber y Beatriz González); 2) las formas dereasignar recursos (Francisco Hernansanz); 3) cómo renovar los servicios sanitarios en su conjunto en época de crisis (Vicente Ortún y MaríaCallejón); y 4) un panorama muy documentado sobre los campos demanifiesta necesidad de mejora en atención primaria (Ricard Meneu ySalvador Peiró),cuyo abordaje da sentido y complementa la renovaciónplanteada en la primera parte del libro.