Germline MBD4-deficiency causes a multi-tumor predisposition syndrome

We report an autosomal recessive, multi-organ tumor predisposition syndrome, caused by bi-allelic loss-of-function germline variants in the base excision repair (BER) gene MBD4. We identified five individuals with bi-allelic MBD4 variants within four families and these individuals had a personal and/or family history of adenomatous colorectal polyposis, acute myeloid leukemia, and uveal melanoma. MBD4 encodes a glycosylase involved in repair of G:T mismatches resulting from deamination of 5′-methylcytosine. The colorectal adenomas from MBD4-deficient individuals showed a mutator phenotype attributable to mutational signature SBS1, consistent with the function of MBD4. MBD4-deficient polyps harbored somatic mutations in similar driver genes to sporadic colorectal tumors, although AMER1 mutations were more common and KRAS mutations less frequent. Our findings expand the role of BER deficiencies in tumor predisposition. Inclusion of MBD4 in genetic testing for polyposis and multi-tumor phenotypes is warranted to improve disease management

Evaluating a Novel Learning Intervention Grounded in the Education for Environmental Citizenship Pedagogical Approach: A Case Study from Cyprus

In times of environmental crisis, Education for Environmental Citizenship (EEC) is argued to be of great significance in the development of secondary education students’ pro-environmentalism as environmental citizens. However, given that EEC is still emerging, there is a lack of empirical foundation on how environmental citizenship can be approached in a pedagogically sound way; as a result, empirical documented interventions in secondary education are also limited. This paper presents a case study from Cyprus, which evaluates the impact of a novel learning intervention grounded in the EEC pedagogical approach, taking into consideration the potential effect of students’ gender as well as of their past/present EC actions. The participants were fifty students (n = 50) in secondary biology education who attended the learning intervention; the students comprised 29 girls (58%) and 21 boys (42%), from two intact classrooms. Data were collected with the Environmental Citizenship Questionnaire (ECQ), which was administered before (pre-) and after (post-) the learning intervention, and were analyzed using a combination of non-parametric statistical analyses (Wilcoxon signed-rank test, Mann–Whitney U test, Spearman’s Correlation and cluster analysis). Our findings indicated that there was a statistically significant increase in the students’ EC learning gains, both EC competences and EC future actions, by the end of the intervention. However, our findings also indicated that the impact of the learning intervention was related significantly to the students’ gender as well as to their past/present EC actions, as these were reported by the students prior the intervention. Overall, our findings provide empirical substantiation of the contribution of the EEC pedagogical approach to the development of secondary students’ EC. At the same time, our study also pointed out the critical roles of gender and past/present EC actions in students’ learning gains

A systematic literature review of K-12 environmental Citizen Science (CS) initiatives: Unveiling the CS pedagogical and participatory aspects contributing to students’ environmental citizenship

Environmental Citizen Science (CS) initiatives have been largely embraced in K-12 education, as they are often hypothesized to improve students' knowledge, skills, attitudes, and behaviours to act as “environmental citizens” according to the notion of Environmental Citizenship (EC). However, the potential of environmental CS initiatives to promote Education for Environmental Citizenship (EEC) has not been systematically explored. At the same time, environmental CS initiatives for educational purposes are highly heterogenous and learning is enacted in diverse ways, according to the participatory and the pedagogical components underpinning each initiative. To address the complexity of the field, this review study adopts the PRISMA methodology to synthesize thirty-four empirical studies (n = 34) retrieved from a systematic review of the literature covering the last two decades (2000–2020). The reviewed environmental CS initiatives were subjected to a content analysis to identify their impact on students' EC (e.g., EC competences, actions, outcomes), as well as to unveil the CS initiatives' constitutional components in terms of (a) Participation (e.g., types of students' contributions, level of data collection, frequency of students' participation, modes of student engagement, forms of students’ involvement), and (b) Pedagogy (e.g., learning goals, educational contexts, learning mechanisms, EEC pedagogy). Our analysis shed light to the three territories (Participation, Pedagogy, Environmental Citizenship) underpinning the reviewed CS initiatives as well as to their interrelations. We reflect on these findings, and we provide directions for future research to guide the development of more successful environmental CS initiatives in K-12 education, serving as a vehicle for EC

Environmental citizen science initiatives as a springboard towards the education for environmental citizenship: A systematic literature review of empirical research

Environmental Citizen Science (CS) initiatives have been recognized over time as a promising way to engage citizens in the investigation and management of various socio-ecological issues. In this context, it has been often hypothesized that these CS initiatives may also contribute to the education and subsequent transformation of citizens into environmentally aware and active citizens. However, the potential of CS to serve as a springboard for supporting Education for Environmental Citizenship (EEC) has not been explored yet. A systematic review was conducted, seeking to examine how citizens’ participation in environmental CS initiatives contributes to the EEC, as a venue through which citizens can undertake actions in different scales (local, national, global) to achieve environmental citizenship. A content analysis procedure was implemented on thirty-one empirical studies (n = 31) retrieved from a systematic review of the literature covering the timespan of the last two decades (2000–2020), according to the PRISMA methodology. The findings indicated that the majority of the reviewed environmental CS initiatives primarily enhanced citizens’ skills and knowledge over the competences of attitudes, values, and behaviors. In addition, it was found that CS initiatives empowered primarily citizens’ personal and responsible environmental actions, which were situated in the private sphere and at the local scale. The derived environmental outcomes were mainly related to the solution and prevention of environmental problems. Finally, correlational statistical analysis indicated that there were strong correlations between the Environmental Citizenship (EC) competences, actions and EEC outcomes and unveiled a set of keystone components; namely, components of crucial significance in the field of EC. We reflect on these findings, and we discuss directions for future research

Teacher framing, classroom collaboration scripts, and help-seeking and help-giving behaviors

This case study investigated students’ collaborative help-seeking and their teachers’ help-giving behaviors in inquiry-based learning. Data from two pairs of middle school students, using two different scaffolding scripts, and from their biology teacher, were collected and analyzed. The following research questions were pursued: How does each collaboration script influence students’ help-seeking and teachers’ help-giving activity? Data included videotapes of each pair’s interactions, the discussions between the pairs and the teacher, whole-class discussions, learning assessments and a teacher interview. Findings indicated that the pair in the Implicit Scaffolding script sought help less frequently than the Explicit Scaffolding pair while the nature of the help sought was different. Findings also showed that the different scaffolding scripts impacted student motivation and framed the teacher expectations differently, regardless of the type of help sought by the students. These findings highlight the connection between collaboration scripts, teacher cognition and scaffolding, and bear implications about students and teachers.International Society of the Learning Science

How can we transform citizens into ‘environmental agents of change'? Towards the citizen science for environmental citizenship (CS4EC) theoretical framework based on a meta-synthesis approach

Environmental Citizen Science (CS) initiatives are argued to provide a promising vehicle for involving citizens in the investigation of various socio-environmental issues. However, environmental CS initiatives have often been criticized for merely focusing on the achievement of their scientific goals and outcomes (science-oriented), rather than on empowering and transforming the participants into ‘environmental citizens’ (citizen-oriented). This study adopts a meta-synthesis approach to synthesize evidence from three recent systematic reviews, seeking to extract a set of design principles for the development of an integrated theoretical framework enabling Environmental Citizenship (EC) in environmental CS initiatives. The proposed framework lies on the intersection of three main research areas: (a) Participation in CS, (b) Pedagogy in CS, and (c) Education for Environmental Citizenship. Grounded on the conjunction of the aforementioned areas, the Citizen Science for Environmental Citizenship (CS4EC) framework puts forward the transformative capacity and the participatory learning aspects of environmental CS initiatives. Overall, the proposed framework lays the foundations for the design of environmental CS initiatives capable for the empowerment and transformation of citizens into ‘environmental agents of change’

Green Cities for Environmental Citizenship: A Systematic Literature Review of Empirical Research from 31 Green Cities of the World

During the last decade, many cities worldwide have implemented various green policies; in this way, they have gradually transformed into “green cities”. The emergence of green cities may provide a promising venue to address cities’ environmental degradation and citizens’ disengagement with current socio-environmental issues, thus giving rise to the notion of Environmental Citizenship (EC). Despite these assumptions, empirical research on the topic is currently emerging. In this study, we examine citizens’ engagement in green cities and its interrelatedness with EC through a systematic literature review. The selected empirical studies (n = 25) were published in peer-reviewed journals during the timespan of the last 12 years (2010–2021). In total, 31 green cities were analyzed in the 25 selected empirical studies. Thematic and frequency analysis revealed that green cities encourage citizens’ engagement with the implemented green policies, while also advancing citizens’ EC. Furthermore, correlational analysis between citizens’ engagement and the Education for Environmental Citizenship (EEC) model revealed that citizens’ engagement with the implemented green policies fosters citizens’ knowledge, skills, attitudes, values, and behaviors, fueling the undertaking of various EC actions. Importantly, green cities have also proved successful in achieving EC’s outcomes leading to sustainability

Green Cities for Environmental Citizenship: A Systematic Literature Review of Empirical Research from 31 Green Cities of the World

During the last decade, many cities worldwide have implemented various green policies; in this way, they have gradually transformed into “green cities”. The emergence of green cities may provide a promising venue to address cities’ environmental degradation and citizens’ disengagement with current socio-environmental issues, thus giving rise to the notion of Environmental Citizenship (EC). Despite these assumptions, empirical research on the topic is currently emerging. In this study, we examine citizens’ engagement in green cities and its interrelatedness with EC through a systematic literature review. The selected empirical studies (n = 25) were published in peer-reviewed journals during the timespan of the last 12 years (2010–2021). In total, 31 green cities were analyzed in the 25 selected empirical studies. Thematic and frequency analysis revealed that green cities encourage citizens’ engagement with the implemented green policies, while also advancing citizens’ EC. Furthermore, correlational analysis between citizens’ engagement and the Education for Environmental Citizenship (EEC) model revealed that citizens’ engagement with the implemented green policies fosters citizens’ knowledge, skills, attitudes, values, and behaviors, fueling the undertaking of various EC actions. Importantly, green cities have also proved successful in achieving EC’s outcomes leading to sustainability