Η αξιοποίηση βιβλίου Επαυξημένης Πραγματικότητας για την ενίσχυση της χωρικής σκέψης στο Νηπιαγωγείο

Ο ορισμός του χωρικού συλλογισμού φαίνεται ότι έχει απασχολήσει έντονα πολλούς ψυχολόγους και ερευνητές της διδακτικής των Μαθηματικών ήδη από τις αρχές του 20ου αιώνα. Η αναζήτηση των παραγόντων που τον συνιστούν και η ανάλυσή τους οδήγησε στη διαπίστωση της πολυσύνθετης φύσης του, γεγονός που φανέρωσε και την πολυδιάστατη προσέγγισή του στον χώρο της εκπαίδευσης. Μελέτη βιβλιογραφικής ανασκόπησης ανέδειξε τη συμβολή της τεχνολογίας της Επαυξημένης Πραγματικότητας (Ε.Π.) στη διδασκαλία της χωρικής σκέψης, καθώς φαίνεται να προσφέρει νέες δυνατότητες μάθησης. Ωστόσο, παρά τα θετικά ευρήματα στον ελληνικό εκπαιδευτικό χώρο, στην προσχολική εκπαίδευση παρατηρήθηκε απουσία ευρημάτων σχετικά με την ένταξη της Ε.Π. στη διδασκαλία χωρικής σκέψης. Η παρούσα εργασία, υιοθετώντας τη μεθοδολογία της έρευνας που βασίζεται στον σχεδιασμό, στοχεύει στην παρουσίαση της ανάπτυξης και αξιολόγησης διδακτικού σεναρίου για τη χωρική σκέψη στο Νηπιαγωγείο με τη χρήση βιβλίου Ε.Π. και τη χρήση παραδοσιακών μεθόδων. Ο σκοπός της παρούσας διπλωματικής εργασίας έγκειται στη διερεύνηση της ανάπτυξης της χωρικής σκέψης με τη χρήση της τεχνολογίας Ε.Π. Στο διδακτικό σενάριο αξιοποιούνται σελίδες επαυξημένου βιβλίου του εμπορίου για την πειραματική ομάδα (Π.Ο.) και συμβατική μέθοδος για την ομάδα ελέγχου (Ο.Ε.). Οι μαθητές/τριες και στις δύο περιπτώσεις (Π.Ο. και Ο.Ε.) εμπλέκονται σε δραστηριότητες χωρικού προσανατολισμού και λήψης προοπτικής, ώστε να αναπτύξουν τη χωρική τους σκέψη. Τα ευρήματα της έρευνας δεν έδειξαν σημαντική διαφορά στην ανάπτυξη χωρικού προσανατολισμού και λήψης προοπτικής ανάμεσα στις δύο ομάδες του δείγματος.The definition of spatial reasoning seems to have been of intense concern to many psychologists and mathematics teaching researchers since the beginning of the 20th century. The search for the factors that constitute it and their analysis led to the finding of its complex nature, which revealed its multidimensional approach to the field of education. A literature review study highlighted the contribution of Augmented Reality (AR) technology to the teaching of spatial thinking, as it seems to offer new learning possibilities. However, despite the positive findings, in the Greek educational field and especially in pre-school education, there was an absence of findings regarding the integration of AR in teaching spatial thinking. This paper, adopting the design-based research methodology, aims to present the development and evaluation of a teaching scenario for spatial thinking in Kindergarten using an augmented reality book and the use of traditional methods. The purpose of this thesis lies in the investigation of the development of spatial thinking with the use of AR technology. In the teaching scenario, augmented book pages of the trade are used for the experimental group and conventional method for the control group. Students in both cases (E.G and C.G.) are involved in spatial orientation and perspective-taking activities in order to develop their spatial thinking. The research findings did not show a significant difference in the development of spatial orientation and perspective taking between the two sample groups

The Benefit of Detecting Reduced Intracellular B12 Activity through Newborn Screening Remains Unclear

Vitamin B12 (B12) deficiency (B12D) can have detrimental effects on early growth and development. The Austrian newborn screening (NBS) program targets inborn errors of cobalamin metabolism and also detects B12D. Of 59 included neonates with B12D suspected by NBS, B12D was not further investigated in 16 (27%) retrospectively identified cases, not confirmed in 28 (48%), and confirmed in 15 (25%) cases. NBS and recall biomarkers were recorded. Age at sampling of the dried blood spots for NBS and the 1st-tier methionine/phenylalanine ratio were the strongest parameters to predict B12D (67.4% correct allocations). No differences between cases with confirmed, unconfirmed, or unknown B12D or differences to norms were observed for growth and psychomotor development (Vineland III scales, phone interviews with parents of children between months 10 and 14 of life). B12 intake was below recommendations in most mothers. NBS can detect reduced intracellular B12 activity. No advantage of NBS detection and treatment regarding infant cognitive development or growth could be proven. Since conspicuous NBS findings cannot be ignored, and to prevent exposing newborns to invasive diagnostics, assessment of maternal B12 status during pregnancy seems advisable

BRCA2 polymorphic stop codon K3326X and the risk of breast, prostate, and ovarian cancers

Background: The K3326X variant in BRCA2 (BRCA2*c.9976A>T; p.Lys3326*; rs11571833) has been found to be associated with small increased risks of breast cancer. However, it is not clear to what extent linkage disequilibrium with fully pathogenic mutations might account for this association. There is scant information about the effect of K3326X in other hormone-related cancers. Methods: Using weighted logistic regression, we analyzed data from the large iCOGS study including 76 637 cancer case patients and 83 796 control patients to estimate odds ratios (ORw) and 95% confidence intervals (CIs) for K3326X variant carriers in relation to breast, ovarian, and prostate cancer risks, with weights defined as probability of not having a pathogenic BRCA2 variant. Using Cox proportional hazards modeling, we also examined the associations of K3326X with breast and ovarian cancer risks among 7183 BRCA1 variant carriers. All statistical tests were two-sided. Results: The K3326X variant was associated with breast (ORw = 1.28, 95% CI = 1.17 to 1.40, P = 5.9x10- 6) and invasive ovarian cancer (ORw = 1.26, 95% CI = 1.10 to 1.43, P = 3.8x10-3). These associations were stronger for serous ovarian cancer and for estrogen receptor–negative breast cancer (ORw = 1.46, 95% CI = 1.2 to 1.70, P = 3.4x10-5 and ORw = 1.50, 95% CI = 1.28 to 1.76, P = 4.1x10-5, respectively). For BRCA1 mutation carriers, there was a statistically significant inverse association of the K3326X variant with risk of ovarian cancer (HR = 0.43, 95% CI = 0.22 to 0.84, P = .013) but no association with breast cancer. No association with prostate cancer was observed. Conclusions: Our study provides evidence that the K3326X variant is associated with risk of developing breast and ovarian cancers independent of other pathogenic variants in BRCA2. Further studies are needed to determine the biological mechanism of action responsible for these associations

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

Background: Genome-wide association studies (GWAS) have identified 94 common single-nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk and 18 associated with ovarian cancer (OC) risk. Several of these are also associated with risk of BC or OC for women who carry a pathogenic mutation in the high-risk BC and OC genes BRCA1 or BRCA2. The combined effects of these variants on BC or OC risk for BRCA1 and BRCA2 mutation carriers have not yet been assessed while their clinical management could benefit from improved personalized risk estimates. Methods: We constructed polygenic risk scores (PRS) using BC and OC susceptibility SNPs identified through population-based GWAS: for BC (overall, estrogen receptor [ER]-positive, and ER-negative) and for OC. Using data from 15 252 female BRCA1 and 8211 BRCA2 carriers, the association of each PRS with BC or OC risk was evaluated using a weighted cohort approach, with time to diagnosis as the outcome and estimation of the hazard ratios (HRs) per standard deviation increase in the PRS. Results: The PRS for ER-negative BC displayed the strongest association with BC risk in BRCA1 carriers (HR = 1.27, 95% confidence interval [CI] = 1.23 to 1.31, P = 8.2 x 10(53)). In BRCA2 carriers, the strongest association with BC risk was seen for the overall BC PRS (HR = 1.22, 95% CI = 1.17 to 1.28, P = 7.2 x 10(-20)). The OC PRS was strongly associated with OC risk for both BRCA1 and BRCA2 carriers. These translate to differences in absolute risks (more than 10% in each case) between the top and bottom deciles of the PRS distribution; for example, the OC risk was 6% by age 80 years for BRCA2 carriers at the 10th percentile of the OC PRS compared with 19% risk for those at the 90th percentile of PRS. Conclusions: BC and OC PRS are predictive of cancer risk in BRCA1 and BRCA2 carriers. Incorporation of the PRS into risk prediction models has promise to better inform decisions on cancer risk management

Transitions to food democracy through multilevel governance

status: publishe

Transitions to food democracy through multilevel governance

Food systems in Europe are largely unjust and not sustainable. Despite substantial negative consequences for individual health, the environment and public sector health and care services, large multi-national corporations continue to benefit from the way food systems are designed—perpetuating “Lose–Lose–Lose–Win” food systems that see these large corporations benefit at the expense of health, the environment and public sector finances. Transitioning to “Win–Win–Win–Win” food systems is challenging because of the heterogeneity, complexity and unpredictable nature of food systems—one-size fits-all solutions to correct imbalances and injustices cannot exist. To address these challenges, we propose the use of heuristics—solutions that can flexibly account for different contexts, preferences and needs. Within food systems, food democracy could be a heuristic solution that provides the processes and can form the basis for driving just transitions. However, ensuring that these transition processes are fair, equitable, sustainable and constructive, requires an approach that can be used across vertical and horizontal governance spheres to ensure the voices of key stakeholders across space, time and spheres of power are accounted for. In this manuscript we outline a new Horizon project, FEAST, that aims to use multilevel governance approaches across vertical and horizontal spheres of governance to realize constructive food democracy. We envisage this as a means to inform just processes that can be used to design and implement policies, in line with food democracy, to facilitate transitions to “Win–Win–Win–Win” food systems across Europe that makes it easy for every European to eat a healthy and sustainable diet

Breast cancer risk variants at 6q25 display different phenotype associations and regulate ESR1, RMND1 and CCDC170.

We analyzed 3,872 common genetic variants across the ESR1 locus (encoding estrogen receptor α) in 118,816 subjects from three international consortia. We found evidence for at least five independent causal variants, each associated with different phenotype sets, including estrogen receptor (ER(+) or ER(-)) and human ERBB2 (HER2(+) or HER2(-)) tumor subtypes, mammographic density and tumor grade. The best candidate causal variants for ER(-) tumors lie in four separate enhancer elements, and their risk alleles reduce expression of ESR1, RMND1 and CCDC170, whereas the risk alleles of the strongest candidates for the remaining independent causal variant disrupt a silencer element and putatively increase ESR1 and RMND1 expression.This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.352

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) has assembled data on 18,435 families with BRCA1 mutations and 11,351 families with BRCA2 mutations ascertained from 69 centers in 49 countries on six continents. This study comprehensively describes the characteristics of the 1,650 unique BRCA1 and 1,731 unique BRCA2 deleterious (disease-associated) mutations identified in the CIMBA database. We observed substantial variation in mutation type and frequency by geographical region and race/ethnicity. In addition to known founder mutations, mutations of relatively high frequency were identified in specific racial/ethnic or geographic groups that may reflect founder mutations and which could be used in targeted (panel) first pass genotyping for specific populations. Knowledge of the population-specific mutational spectrum in BRCA1 and BRCA2 could inform efficient strategies for genetic testing and may justify a more broad-based oncogenetic testing in some populations

Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers

While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation carriers. Following on these observations, we further assessed the link between the AURKA-HMMR-TPX2-TUBG1 functional module and risk of breast cancer in BRCA1 or BRCA2 mutation carriers. Forty-one single nucleotide polymorphisms (SNPs) were genotyped in 15,252 BRCA1 and 8,211 BRCA2 mutation carriers and subsequently analyzed using a retrospective likelihood appr

Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

Introduction: More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods: We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2) and triple-negative- (TN) status; morphologic subtypes; histological grade; and nodal involvement. Results: The estimated BC hazard ratios (HRs) for the 74 known BC alleles in BRCA1 carriers exhibited moderate correlations with the corresponding odds ratios from the general population. However, their associations with ER-positive BC in BRCA1 carriers were more consistent with the ER-positive as