Online learning of physics during a pandemic: A report from an academic experience in Italy

The arrival of the Sars-Cov II has opened a new window on teaching physics in academia. Frontal lectures have left space for online teaching, teachers have been faced with a new way of spreading knowledge, adapting contents and modalities of their courses. Students have faced up with a new way of learning physics, which relies on free access to materials and their informatics knowledge. We decided to investigate how online didactics has influenced students’ assessments, motivation, and satisfaction in learning physics during the pandemic in 2020. The research has involved bachelor (n = 53) and master (n = 27) students of the Physics Department at the University of Cagliari (N = 80, 47 male; 33 female). The MANOVA supported significant mean differences about gender and university level with higher values for girls and master students in almost all variables investigated. The path analysis showed that student-student, student-teacher interaction, and the organization of the courses significantly influenced satisfaction and motivation in learning physics. The results of this study can be used to improve the standards of teaching in physics at the University of Cagliar

A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin

Lynch syndrome is an autosomal-dominant hereditary condition predisposing to the development of specific cancers, because of germline mutations in the DNA-mismatch repair (MMR) genes. Large genomic deletions represent a significant fraction of germline mutations, particularly among the MSH2 gene, in which they account for 20% of the mutational spectrum. In this study we analyzed 13 Italian families carrying MSH2 exon 8 deletions, 10 of which of ascertained Sardinian origin. The overrepresentation of Sardinians was unexpected, as families from Sardinia account for a small quota of MMR genes mutation tests performed in our laboratory. The hypothesis that such a result is owing to founder effects in Sardinia was tested by breakpoint junctions sequencing and haplotype analyses. Overall, five different exon eight deletions were identified, two of which recurrent in families, all apparently unrelated, of Sardinian origin (one in eight families, one in two families). The c.1277–1180_1386+2226del3516insCATTCTCTTTGAAAA deletion shares the same haplotype between all families and appears so far restricted to the population of South-West Sardinia, showing the typical features of a founder effect. The three non-Sardinian families showed three different breakpoint junctions and haplotypes, suggesting independent mutational events. This work has useful implications in genetic testing for Lynch syndrome. We developed a quick test for each of the identified deletions: this can be particularly useful in families of Sardinian origin, in which MSH2 exon 8 deletions may represent 50% of the overall mutational spectrum of the four MMR genes causing Lynch syndrome

Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics

Abstract Purpose To evaluate in current practice the performance of BOADICEA and BRCAPRO risk models and empirical criteria based on cancer family history for the selection of individuals for BRCA genetic testing. Patients and methods The probability of BRCA mutation according to the three tools was retrospectively estimated in 918 index cases consecutively undergone BRCA testing at 15 Italian cancer genetics clinics between 2006 and 2008. Results 179 of 918 cases (19.5%) carried BRCA mutations. With the strict use of the criteria based on cancer family history 173 BRCA (21.9%) mutations would have been detected in 789 individuals. At the commonly used 10% threshold of BRCA mutation carrier probability, the genetic models showed a similar performance [PPV (38% and 37%), sensitivity (76% and 77%) and specificity (70% and 69%)]. Their strict use would have avoided around 60% of the tests but would have missed approximately 1 every 4 carriers. Conclusion Our data highlight the complexity of BRCA testing referral in routine practice and question the strict use of genetic models for BRCA risk assessment

Use of ontologies to annotate and retrieve educational contents: the AquaRing approach

The paper introduces the use of Semantic Web services within AquaRing, an EC-funded project concerning aquatic environments and their resources, and an ontology used to support educational contents annotation and retrieval. The aim of the project is to improve access to the vast amount of digital content concerning the aquatic environment and its resources, as well as to support enhanced education and informal learning in this specific domain. In order to achieve these goals a semantic web based infrastructure has been designed, implemented and tested and an educational ontology has been developed. In this paper, we start from a short description of the AquaRing project and then describe the educational ontology and its use to annotate and retrieve learning contents within the AquaRing architecture

Uso di ontologie per l’annotazione e il recupero di contenuti educativi nel progetto AquaRing

L’articolo presenta il progetto europeo AquaRing e un’ontologia educativa sviluppata per offrire servizi su base semantica e supportare l’annotazione e il recupero dei contenuti. Obiettivo del progetto è favorire l’accesso al vasto insieme di contenuti digitali riguardanti gli ambienti acquatici e le loro risorse e supportare l’attivazione di processi di apprendimento formali e informali in questo specifi co dominio. Al fi ne di raggiungere questi obiettivi è stata sviluppata un’architettura basata su tecnologie proprie del web semantico e implementata un’ontologia educativa. Dopo una breve presentazione del progetto, si descriveranno il processo di sviluppo dell’ontologia e il suo impiego in fase di indicizzazione e recupero dei contenuti d’apprendimento nel repository di AquaRing

SARNET La rete di Stazioni Permanenti della Sardegna

As a part of the research project funded by the MIUR for the years 2006-2007 (PRIN 2005) entitled "Improvement of topographic surveys with the integration of permanent GPS station network”, the Research Group of the University of Cagliari has addressed several issues related to the transmission of differential GPS corrections, the design and calculation of integrated networks, GLONASS constellation support to Real Time and post-processed positioning. The opportunity to work on Networked RTK arose from a collaboration with the societies Sardinia IT and Geodesia Tecnologie srl who created a network of permanent GPS stations covering the whole Sardinia region. Within this collaboration we were able to deal with issues related to the definition of the reference frame, the monitoring of the stations stability and the real time corrections quality. In particular, we started up the procedure for the weekly solutions with the Bernese 5.0 GPS software in the IGS05 reference frame and transformation in ETRS89 and we began the series of trials for assessing the quality of network corrections

La rete NRTK SARNET della Sardegna

As a part of the research project funded by the MIUR for the years 2006-2007 (PRIN 2005) entitled "Improvement of topographic surveys with the integration of permanent GPS station network”, the Research Group of the University of Cagliari has addressed several issues related to the transmission of differential GPS corrections, the design and calculation of integrated networks, GLONASS constellation support to Real Time and post-processed positioning. The opportunity to work on Networked RTK arose from a collaboration with the societies Sardinia IT and Geodesia Tecnologie srl who created a network of permanent GPS stations covering the whole Sardinia region. Within this collaboration we were able to deal with issues related to the definition of the reference frame, the monitoring of the stations stability and the real time corrections quality. In particular, we started up the procedure for the weekly solutions with the Bernese 5.0 GPS software in the IGS05 reference frame and transformation in ETRS89 and we began the series of trials for assessing the quality of network corrections

Aesthetic complaints as clue to Pseudoxanthoma elasticum

Background: Aesthetic issues might be the clue to systemic disease diagnosis, and undervaluation might postpone appropriate assessment.Pseudoxanthoma elasticum is a heritable metabolic disorder of the connective tissues, clinically affecting the skin, the eyes and the cardiovascular system, with consistent morbidity and eventual severe complications, such as blindness or unexpected gastro-intestinal bleeding. Case report: A 23-year-old woman presented with multiple smooth yellowish papules and cobblestone plaque on the lateral and posterior side of the neck. The patient was otherwise healthy, but histological examination of a skin biopsy and ophthalmology confirmed the clinical suspect of pseudoxanthoma elasticum. Genetic testing revealed a peculiarcompound heterozygosity, with the typical pathogenic nonsense mutation on exon 9 (c.1132 C>T p.Q378X), and a novel missense mutation on exon 26 (c.3700 G>A p.E1234K), which should be thus added to the list of the disease-causing mutations. Conclusions: Skilled expertise and careful patient’s examination are the clue to recognise minimal signs of systemic disease, such as pseudoxanthoma elasticum. Phenotypical variation and differential diagnosis requires multispecialty cooperation, involving the dermatologist, ophthalmologist, pathologist, geneticist and an internist evaluation, including cardiovascular and gastro-enteric screening. As there is no specific treatment, management focuses on prevention and monitoring of complications

Online learning of physics during a pandemic: A report from an academic experience in Italy

The need for online learning, as a consequence of the social distancing imposed by Sars-Cov II, has opened a new window on teaching physics in academia. Frontal lectures have left space for online teaching, teachers have been facing with a new way of spreading knowledge, adapting contents and modalities of their courses. Students have coped with a new way of learning physics, which relies on free access to materials and their informatics knowledge. We investigated on how online didactics has influenced lecturers’ teaching of physics and students’ assessments, motivation, and satisfaction in learning physics during the pandemic in 2020. The research involved bachelor and master students attending the degree course in Physics and lecturers of the Physics Department at the University of Cagliari. The Multivariate ANalysis Of VAriance (MANOVA) supported significant mean differences concerning gender and university level with higher values for girls and master students in almost all variables investigated. Correlations showed that student-student, student-teacher interaction, and the organization of the courses are significantly related to satisfaction and motivation in learning physics. The results of this study can be used to improve the standards of teaching in Physics at the University of Cagliari