An innovative tailored instructional design for computer programming courses in engineering

Industry 4.0 and 5.0 topics are emerging fields and have seen rising demand recently. There is a critical need, on the other hand, for improved methods of instructing programming languages since a growing lack of student motivation during the pandemic has had a deleterious influence on the education of programmers. In this context, online/hybrid computer programming courses must be addressed with innovative solutions to support the field with well-educated professionals. In this paper, we present a case study to propose an innovative tailored instructional design for the online/hybrid learning environments for programming courses in engineering faculties. To develop the instructional design, the Kemp Instructional Design Model was followed. The instructional design is a result of the main outputs of the RECOM “Redesigning Introductory Computer Programming Using Innovative Online Modules” project, which aims to bridge the gap between the existing course design in programming courses and the needs of "Covid” and “post-Covid” generation students

p.Ala541Thr variant of MEN1 gene: A non deleterious polymorphism or a pathogenic mutation?

Context Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomal dominant inherited syndrome, related to mutations in the MEN1 gene. Controversial data suggest that the nonsynonymous p.Ala541Thr variant, usually considered as a non-pathogenic polymorphism, may be associated with an increased risk of MEN1-related lesions in carriers. Objective The aim of this study was to evaluate the pathogenic influence of the p.Ala541Thr variant on clinical and functional outcomes. Patients and methods We analysed a series of 55 index patients carrying the p.Ala541Thr variant. Their clinical profile was compared to that of 117 MEN1 patients. The biological impact of the p.Ala541Thr variant on cell growth was additionally investigated on menin-deficient Leydig cell tumour (LCT)10 cells generated from Men1+/Men1− heterozygous knock-out mice, and compared with wild type (WT). Results The mean age at first appearance of endocrine lesions was similar in both p.Ala541Thr carriers and MEN1 patients, but no p.Ala541Thr patient had more than one cardinal MEN1 lesion at initial diagnosis. A second MEN1 lesion was diagnosed in 13% of MEN1 patients and in 7% of p.Ala541Thr carriers in the year following preliminary diagnosis. Functional studies on LCT10 cells showed that overexpression of the p.Ala541Thr variant did not inhibit cell growth, which is in direct contrast to results obtained from investigation of WT menin protein. Conclusion Taken together, these data raise the question of a potential pathogenicity of the p.Ala541Thr missense variant of menin that commonly occurs within the general population. Additional studies are required to investigate whether it may be involved in a low-penetrance MEN1 phenotype

KP-LAB Knowledge Practices Laboratory -- Specification of end-user applications

deliverablesThe present deliverable provides a high-level view on the new specifications of end user applications defined in the WPII during the M37-M46 period of the KP-Lab project. This is the last in the series of four deliverables that cover all the tools developed in the project, the previous ones being D6.1, D6.4 and D6.6. This deliverable presents specifications for the new functionalities for supporting the dedicated research studies defined in the latest revision of the KP-Lab research strategy. The tools addressed are: the analytic tools (Data export, Time-line-based analyser, Visual analyser), Clipboard, Search, Versioning of uploadable content items, Visual Model Editor (VME) and Visual Modeling Language Editor (VMLE). The main part of the deliverable provides the summary of tool specifications and the description of the Knowledge Practices Environment architecture, as well as an overview of the revised technical design process, of the tools’ relationship with the research studies, and of the driving objectives and the high-level requirements relevant for the present specifications. The full specifications of tools are provided in the annexes 1-9

TRY plant trait database - enhanced coverage and open access

Plant traits-the morphological, anatomical, physiological, biochemical and phenological characteristics of plants-determine how plants respond to environmental factors, affect other trophic levels, and influence ecosystem properties and their benefits and detriments to people. Plant trait data thus represent the basis for a vast area of research spanning from evolutionary biology, community and functional ecology, to biodiversity conservation, ecosystem and landscape management, restoration, biogeography and earth system modelling. Since its foundation in 2007, the TRY database of plant traits has grown continuously. It now provides unprecedented data coverage under an open access data policy and is the main plant trait database used by the research community worldwide. Increasingly, the TRY database also supports new frontiers of trait-based plant research, including the identification of data gaps and the subsequent mobilization or measurement of new data. To support this development, in this article we evaluate the extent of the trait data compiled in TRY and analyse emerging patterns of data coverage and representativeness. Best species coverage is achieved for categorical traits-almost complete coverage for 'plant growth form'. However, most traits relevant for ecology and vegetation modelling are characterized by continuous intraspecific variation and trait-environmental relationships. These traits have to be measured on individual plants in their respective environment. Despite unprecedented data coverage, we observe a humbling lack of completeness and representativeness of these continuous traits in many aspects. We, therefore, conclude that reducing data gaps and biases in the TRY database remains a key challenge and requires a coordinated approach to data mobilization and trait measurements. This can only be achieved in collaboration with other initiatives

Distal Xq duplication and functional Xq disomy

Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations widely vary depending on the gender of the patient and on the gene content of the duplicated segment. Prevalence of Xq duplications remains unknown. About 40 cases of Xq28 functional disomy due to cytogenetically visible rearrangements, and about 50 cases of cryptic duplications encompassing the MECP2 gene have been reported. The most frequently reported distal duplications involve the Xq28 segment and yield a recognisable phenotype including distinctive facial features (premature closure of the fontanels or ridged metopic suture, broad face with full cheeks, epicanthal folds, large ears, small and open mouth, ear anomalies, pointed nose, abnormal palate and facial hypotonia), major axial hypotonia, severe developmental delay, severe feeding difficulties, abnormal genitalia and proneness to infections. Xq duplications may be caused either by an intrachromosomal duplication or an unbalanced X/Y or X/autosome translocation. In XY males, structural X disomy always results in functional disomy. In females, failure of X chromosome dosage compensation could result from a variety of mechanisms, including an unfavourable pattern of inactivation, a breakpoint separating an X segment from the X-inactivation centre in cis, or a small ring chromosome. The MECP2 gene in Xq28 is the most important dosage-sensitive gene responsible for the abnormal phenotype in duplications of distal Xq. Diagnosis is based on clinical features and is confirmed by CGH array techniques. Differential diagnoses include Prader-Willi syndrome and Alpha thalassaemia-mental retardation, X linked (ATR-X). The recurrence risk is significant if a structural rearrangement is present in one of the parent, the most frequent situation being that of an intrachromosomal duplication inherited from the mother. Prenatal diagnosis is performed by cytogenetic testing including FISH and/or DNA quantification methods. Management is multi-specialist and only symptomatic, with special attention to prevention of malnutrition and recurrent infections. Educational and rehabilitation support should be offered to all patients

High Speed and High Efficiency Travelling Wave Single-Photon Detectors Embedded in Nanophotonic Circuits

Ultrafast, high quantum efficiency single photon detectors are among the most sought-after elements in modern quantum optics and quantum communication. High photon detection efficiency is essential for scalable measurement-based quantum computation, quantum key distribution, and loophole-free Bell experiments. However, imperfect modal matching and finite photon absorption rates have usually limited the maximum attainable detection efficiency of single photon detectors. Here we demonstrate a superconducting nanowire detector atop nanophotonic waveguides which allows us to drastically increase the absorption length for incoming photons. When operating the detectors close to the critical current we achieve high on-chip single photon detection efficiency up to 91% at telecom wavelengths, with uncertainty dictated by the variation of the waveguide photon flux. We also observe remarkably low dark count rates without significant compromise of detection efficiency. Furthermore, our detectors are fully embedded in a scalable silicon photonic circuit and provide ultrashort timing jitter of 18ps. Exploiting this high temporal resolution we demonstrate ballistic photon transport in silicon ring resonators. The direct implementation of such a detector with high quantum efficiency, high detection speed and low jitter time on chip overcomes a major barrier in integrated quantum photonics

Explore before you restore: Incorporating complex systems thinking in ecosystem restoration

The global movement for ecosystem restoration has gained momentum in response to the Bonn Challenge (2010) and the UN Decade on Ecosystem Restoration (UNDER, 2021–2030). While several science-based guidelines exist to aid in achieving successful restoration outcomes, significant variation remains in the outcomes of restoration projects. Some of this disparity can be attributed to unexpected responses of ecosystem components to planned interventions.Given the complex nature of ecosystems, we propose that concepts from Complex Systems Science (CSS) that are linked to non-linearity, such as regime shifts, ecological resilience and ecological feedbacks, should be employed to help explain this variation in restoration outcomes from an ecological perspective.Our framework, Explore Before You Restore, illustrates how these concepts impact restoration outcomes by influencing degradation and recovery trajectories. Additionally, we propose incorporating CSS concepts into the typical restoration project cycle through a CSS assessment phase and suggest that the need for such assessment is explicitly included in the guidelines to improve restoration outcomes.To facilitate this inclusion and make it workable by practitioners, we describe indicators and methods available for restoration teams to answer key questions that should make up such CSS assessment. In doing so, we identify key outstanding science and policy tasks that are needed to further operationalize CSS assessment in restoration.Synthesis and applications. By illustrating how key Complex Systems Science (CSS) concepts linked to non-linear threshold behaviour can impact restoration outcomes through influencing recovery trajectories, our framework Explore Before You Restore demonstrates the need to incorporate Complex Systems thinking in ecosystem restoration. We argue that inclusion of CSS assessment into restoration project cycles, and more broadly, into international restoration guidelines, may significantly improve restoration outcomes