Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Essential tremor (ET) is a common movement disorder with an estimated prevalence of 5% of the population aged over 65 years. In spite of intensive efforts, the genetic architecture of ET remains unknown. We used a combination of whole-exome sequencing and targeted resequencing in three ET families. In vitro and in vivo experiments in oligodendrocyte precursor cells and zebrafish were performed to test our findings. Whole-exome sequencing revealed a missense mutation in TENM4 segregating in an autosomal-dominant fashion in an ET family. Subsequent targeted resequencing of TENM4 led to the discovery of two novel missense mutations. Not only did these two mutations segregate with ET in two additional families, but we also observed significant over transmission of pathogenic TENM4 alleles across the three families. Consistent with a dominant mode of inheritance, in vitro analysis in oligodendrocyte precursor cells showed that mutant proteins mislocalize. Finally, expression of human mRNA harboring any of three patient mutations in zebrafish embryos induced defects in axon guidance, confirming a dominant-negative mode of action for these mutations. Our genetic and functional data, which is corroborated by the existence of a Tenm4 knockout mouse displaying an ET phenotype, implicates TENM4 in ET. Together with previous studies of TENM4 in model organisms, our studies intimate that processes regulating myelination in the central nervous system and axon guidance might be significant contributors to the genetic burden of this disorder.

Decreasing educational differences in mortality over 40 years: evidence from the Turin Longitudinal Study (Italy)

BACKGROUND: Recent studies suggest that inequalities in premature mortality have continued to rise over the last decade in most European countries, but not in southern European countries. METHODS: In this study, we assess long-term trends (1971-2011) in absolute and relative educational inequalities in all-cause and cause-specific mortality in the Turin Longitudinal Study (Turin, Italy), a record-linkage study including all individuals resident in Turin in the 1971, 1981, 1991 and 2001 censuses, and aged 30-99 years (more than 2 million people). We examined mortality for all causes, cardiovascular disease (CVD), all cancers and specific cancers (lung, breast), as well as smoking and alcohol-related mortality. RESULTS: Overall mortality substantially decreased in all educational groups over the study period, although cancer rates only slightly declined. Absolute inequalities decreased for both genders (SII=962/694 in men/women in 1972-1976 and SII=531/259 in 2007-2011, p<0.01). Among men, absolute inequalities for CVD and alcohol-related causes declined (p<0.05), while remaining stable for other causes of death. Among women, declines in absolute inequalities were observed for CVD, smoking and alcohol-related causes and lung cancer (p<0.05). Relative inequalities in all-cause mortality remained stable for men and decreased for women (RII=1.92/2.03 in men/women in 1972-1976 and RII=2.15/1.32 in 2007-2011). Among men, relative inequalities increased for smoking-related causes, while among women they decreased for all cancers, CVD, smoking-related causes and lung cancer (p<0.05). CONCLUSIONS: Absolute inequalities in mortality strongly declined over the study period in both genders. Relative educational inequalities in mortality were generally stable among men; while they tended to narrow among women. In general, this study supports the hypothesis that educational inequalities in mortality have decreased in southern European countries.

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The life-design paradigm is among those rooted in Guichard's (2009) life self-construction model that describes the identity processes underlying the development of multiple social selves. In this chapter, which is a tribute to the major contribution of Jean Guichard to the field of educational and vocational guidance and counseling, we will try to explicate the links between career adaptability and subjective identity forms. Both highlight two different and important processes that are interdependent and which should be simultaneously considered in the life design paradigm. These processes allow people to behave as active agents in their environment and are of high importance in the contemporary socioeconomic context, characterized by globalization, an increase in employment insecurity, the destructuralization of one's life course, and individualization. This chapter argues that both career adapt-abilities and identity processes rely on reflexivity and self-awareness abilities. For this reason the system of subjective identity forms, as defined by Guichard, can be considered as a meta-competency allowing adaptation, meaning making, but also the allocation of process resources.

The Dialogic Turn in Educational Psychology

The increasing presence of and claim for dialogue in today"s society has already had an impact on the theory and practice of learning. Whereas in the past individual and cognitive elements were seen as crucial to learning, since about two decades ago, scientific literature indicates that culture, interaction and dialogue are the key factors. In addition, the research project of highest scientific rank and with most resources dedicated to the study of school education in the Framework Program of the European Union: INCLUD-ED shows that the practices of successful schools around Europe are in line with the dialogic approach to learning. This article presents the dialogic turn in educational psychology, consisting of moving from symbolic conceptions of mind and internalist perspectives that focus on mental schemata of previous knowledge, to theories that see intersubjectivity and communication as the primary factors in learning. The paper deepens on the second approach.

Educational resources offered by the European Board of Physical and Rehabilitation Medicine (EBPRM)

Background .- Physical and Rehabilitation Medicine (PRM) is a very demanding medical speciality. To ensure high standard of research and care in PRM all across Europe, it is crucial to attract gifted trainees and offer them high quality education. At undergraduate level, many medical schools in Europe omit to offer teaching on disabled persons and on basic PRM knowledge. Thus PRM is hardly known to medical students. For postgraduate trainees access to evidence-based knowledge as well as teaching of research methodology specific to PRM, rehabilitation methodology, disability management and team building also need to be strengthened to increase the visibility of PRM. Action .- To address these issues the EBPRM proposes presently a specific undergraduate curriculum in PRM including the issues of disability, participation and handicap as a basis for general medical practice and postgraduate rehabilitation training. For PRM trainees many educational documents are now available on the EBPRM website. A growing number of educational sessions for PRM trainees take place during international and national PRM Congresses which can be accessed at low cost. Educational papers published regularly in European rehabilitation journals and European PRM Schools are offered free or at very low cost to trainees.

Use of open educational resources at the UOC

The Open University of Catalonia (UOC: Universitat Oberta de Catalunya) is currently implementing its 2009-2014 Strategic Plan, which devotes an entire section to open educational resources. The working group on this topic is drafting a report that establishes the objectives to be met, analyses the current lay of the land and sets out the actions required to meet the objectives. This paper examines each of these three points.

MultiCampus Open Educational Resources : the case of OER-HE

In this paper we address the implementation strategies regarding Open Educational Resources within a multicampus setting. A comparison is made between 3 institutions that are taking a very different approach: K.U.Leuven, which is a traditional university, the Open Universiteit (Netherlands) which is in the process of starting up the Network Open Polytechnics, and the Universitat Oberta de Catalunya. We are looking deeper into the pedagogical and organizational issues involved in implementing an OER strategy and show how OER holds the promise of flexible solutions for reaching at first sight very divergent goals.

A Formal Framework for Specifying, Reusing and Implementing Educational Settings. Second level

Peer-reviewed

Barriers and Motivators for Using Open Educational Resources in Schools

In an explorative study, we investigated on German schoolteachers how they use, reuse, produce and manage Open Educational Resources. The main questions in this research have been, what their motivators and barriers are in their use of Open Educational Resources, what others can learn from their Open Educational Practices, and what we can do to raise the dissemination level of OER in schools.

Broadening the CRM domain of application to higher educational (e-learning) environments

In this paper, we reflect about the broadening of the field of application of CRM from the business domain to a wider context of relationships in which the inclusion of non-profit making organizations seems natural. In particular, we focus on analyzing the suitability of adopting CRM processes by universities and higher educational institutions dedicated to e-learning. This is an issue that, in our opinion, has much potential but has received little attention in research so far.

The effects of ICT on school: teachers’ and students’ perspectives

The purpose of this study was to investigate the effects of information and communication technology (ICT) on school from teachers’ and students’ perspectives. The focus was on three main subject matters: on ICT use and competence, on teacher and school community, and on learning environment and teaching practices. The study is closely connected to the national educational policy which has aimed strongly at supporting the implementation of ICT in pedagogical practices at all institutional levels. The phenomena were investigated using a mixed methods approach. The qualitative data from three cases studies and the quantitative data from three statistical studies were combined. In this study, mixed methods were used to investigate the complex phenomena from various stakeholders’ points of view, and to support validation by combining different perspectives in order to give a fuller and more complete picture of the phenomena. The data were used in a complementary manner. The results indicate that the technical resources for using ICT both at school and at homes are very good. In general, students are capable and motivated users of new technology; these skills and attitudes are mainly based on home resources and leisuretime use. Students have the skills to use new kinds of applications and new forms of technology, and their ICT skills are wide, although not necessarily adequate; the working habits might be ineffective and even wrong. Some students have a special kind of ICT-related adaptive expertise which develops in a beneficial interaction between school guidance and challenges, and individual interest and activity. Teachers’ skills are more heterogeneous. The large majority of teachers have sufficient skills for everyday and routine working practices, but many of them still have difficulties in finding a meaningful pedagogical use for technology. The intensive case study indicated that for the majority of teachers the intensive ICT projects offer a possibility for learning new skills and competences intertwined in the work, often also supported by external experts and a collaborative teacher community; a possibility that “ordinary” teachers usually do not have. Further, teachers’ good ICT competence help them to adopt new pedagogical practices and integrate ICT in a meaningful way. The genders differ in their use of and skills in ICT: males show better skills especially in purely technical issues also in schools and classrooms, whereas female students and younger female teachers use ICT in their ordinary practices quite naturally. With time, the technology has become less technical and its communication and creation affordances have become stronger, easier to use, more popular and motivating, all of which has increased female interest in the technology. There is a generation gap in ICT use and competence between teachers and students. This is apparent especially in the ICT-related pedagogical practices in the majority of schools. The new digital affordances not only replace some previous practices; the new functionalities change many of our existing conceptions, values, attitudes and practices. The very different conceptions that generations have about technology leads, in the worst case, to a digital gap in education; the technology used in school is boring and ineffective compared to the ICT use outside school, and it does not provide the competence needed for using advanced technology in learning. The results indicate that in schools which have special ICT projects (“ICT pilot schools”) for improving pedagogy, these have led to true changes in teaching practices. Many teachers adopted student-centred and collaborative, inquiry-oriented teaching practices as well as practices that supported students' authentic activities, independent work, knowledge building, and students' responsibility. This is, indeed, strongly dependent on the ICT-related pedagogical competence of the teacher. However, the daily practices of some teachers still reflected a rather traditional teacher-centred approach. As a matter of fact, very few teachers ever represented solely, e.g. the knowledge building approach; teachers used various approaches or mixed them, based on the situation, teaching and learning goals, and on their pedagogical and technical competence. In general, changes towards pedagogical improvements even in wellorganised developmental projects are slow. As a result, there are two kinds of ICT stories: successful “ICT pilot schools” with pedagogical innovations related to ICT and with school community level agreement about the visions and aims, and “ordinary schools”, which have no particular interest in or external support for using ICT for improvement, and in which ICT is used in a more routine way, and as a tool for individual teachers, not for the school community.

Occlusal and dentofacial characteristics of the deciduous dentition and treatment effects of the eruption guidance appliance in the early mixed dentition

The aim of this investigation was to analyze the dental occlusion in the deciduous dentition, and the effects of orthodontic treatment carried out in the early mixed dentition with the eruption guidance appliance. The deciduous occlusion and craniofacial morphology of 486 children (244 girls and 242 boys) were investigated at the onset of the mixed dentition period (mean age 5.1 years, range 4.0-7.8 years). Treatment in the treatment group and follow-up in the control group were started when the first deciduous incisor was exfoliated (T1) and ended when all permanent incisors and first molars were fully erupted (T2). The mean age of the children was 5.1 years (SD 0.5) at T1 and 8.4 years (SD 0.5) at T2. Treatment was carried out with the eruption guidance appliance. Occlusal changes that took place in 167 children were compared with those of 104 untreated control children. Pre- and post-treatment cephalometric radiographs were taken, and the craniofacial morphology of 115 consecutively treated children was compared with that of 104 control children. The prevalence of malocclusion in the deciduous dentition was 68% or 93% depending on how the cut-off value between the acceptable and non-acceptable occlusal characteristic was defined. The early dentofacial features of children with distal occlusion, large overjet and deepbite differed from those with normal occlusion. However, the skeletal pattern of these three malocclusions showed considerable similarity each being characterized by a retrusive mandible, small maxillo-mandibular difference, convex profile, retrusive lower incisors, and large interincisal angle. In the treatment group, overjet and overbite decreased significantly from T1 to T2. Following treatment, a tooth-to-tooth contact was found in 99% of the treated children but only in 24% of the controls. A Class I molar relationship was observed in 90% of the children in the treatment group, and in 48% in the control group. Good alignment of the incisors was observed in 98% of the treated children, whereas upper crowding was found in 32% and lower crowding in 47% of the controls. A significant difference between the groups was found in the mandibular length, midfacial length and maxillo-mandibular differential. The occlusal correction, brought about by the eruption guidance appliance, was achieved mainly through changes in the dentoalveolar region of the mandible. In addition, the appliance seemed to enhance the growth of the mandible. Treatment in the early mixed dentition using the eruption guidance appliance is an effective method to normalize occlusion and reduce further need of orthodontic treatment. Only few spontaneous corrective changes can be expected without active intervention.

Regional returns to physical capital: are they conditioned by educational attainment?

This paper provides novel empirical evidence of the indirect effect of educational attainment on regional economic growth, through its influence on the profitability of investment in physical capital. We test the hypothesis that the regional heterogeneity of the return to physical capital can be directly related to the existing heterogeneity in the educational attainment of workers. The results for the Spanish case support our hypothesis that the higher the educational attainment of workers the greater the returns on investment in physical capital. In fact, this effect seems to be sufficiently strong to have counterbalanced the traditional mechanism of decreasing returns to capital accumulation.