Faith, Secularism, and the Need for Interfaith Dialogue in Writing Center Work

This article argues that religious and secularist identities complement and intersect in political ways with race, class, gender, sexuality, and nationality and that they inform writing center practice because belief exists along a spectrum that involves all writing center inhabitants and affects all writing-centered conversations. We suggest that this spectrum of faith is evocative of the spectrums that theorists of race, gender, and sexuality in particular have discussed, yet often faith has been overlooked in discussions of identity in writing center work (Denny, 2010). We propose that theories of race, gender, sexuality and other identities that have served as springboards for professional development in writing centers can help to facilitate the development of a greater literacy of faith and secularism as complicated and nuanced identities. Specifically, we believe theories involving intersectional social justice work and hybridity can help to facilitate self-reflective and productive interfaith dialogue or dialogue about faith and secularism. Thus, such theories can help writing center professionals dismantle stereotypes about believers and secularists and problematic notions of what faith, or a conversation about faith, is or should be

Possibilities for Interfaith Dialogue in Writing Centers and Programs

This article speaks into the pervasive silence on the subject of faith in writing center and writing program work. Through revisiting Sharon Crowley’s Toward a Civil Discourse and investigating silence, we encourage “counterfudamentalist work”: work that counters fundamentalist methodology by inviting fundamentalists and believers and nonbelievers of different kinds into nonliteralist and open-minded ways of reading writing-centered experiences involving religious faith and secularism. The three authors of this article offer personal narratives about their own experience with faith in their centers/programs and use different theoretical perspectives to start a necessary dialogue on faith and religious experiences. By interweaving theoretical perspectives, research, and personal narratives involving our WPA work, this article argues that writing center/program administrators must do the same, and we hope to model the types of conversations we must bring into our centers.University Writing Cente

Development of Smart Grid Standards in View of Energy System Functionalities

A range of technologies must be developed and deployed for achieving a decarbonised energy system. A smart grid aims to integrate these different technologies into a single, over-arching system that is at the same time both complex and interoperable, which cannot be achieved without standardisation. Moreover, standardisation is a method of transferring research into successful processes and products. Without this, existing conventional energy systems will not change much longer, as it is more difficult to achieve significant market penetration of new technologies and deployment of new functions and applications. It seems that standardisation issues are not sufficiently addressed in scientific publications and are treated as a very specific topic by community of researchers despite the fact that standards may serve as a knowledge base for further research and improvement of emerging technologies and approaches. This paper presents a bird's-eye smart grid standardisation review based on a unique functionality - technology approach developed within Horizon 2020 project PANTERA.acceptedVersio

Ψυχολογία αθλητών αντισφαίρισης στις αναπτυξιακές ηλικίες

Ο σκοπός αυτής της εργασίας ήταν να ερευνηθούν οι ιδιότητες του άγχους και της ανησυχίας καθώς και η σχέση τους με την απόδοση σε παίδες κι έφηβους αθλητές της αντισφαίρισης. Η ικανότητα αντιμετώπισης των παραγόντων της πίεσης και του άγχους αποτελεί ένα αναπόσπαστο μέρος του αθλητισμού. Για τις ανάγκες του σκοπού της εργασίας πραγματοποιήθηκε βιβλιογραφική ανασκόπηση καθώς και έρευνα στην οποία χρησιμοποιήθηκε το ερωτηματολόγιο των Α. Λιάκου και C.D. Spielberger State Trait Anxiety Inventory STAI το οποίο αποτελεί Ερωτηματολόγιο αξιολόγηση άγχους. Οι συμμετέχοντες σ’ αυτή την έρευνα ήταν 20 άτομα συνολικά, 10-13 ετών τα οποία ήταν αθλητές/τριες τένις. Οι αθλητές/τριες προέρχονται και αθλούνται στο σύλλογο αντισφαίρισης Εκπαιδευτηρίων Δούκα. Μοιράστηκαν και συλλέχθηκαν 20 ερωτηματολόγια. Τα ερωτηματολόγια ήταν σωστά συμπληρωμένα και υπήρχε βοήθεια καθ’ όλη την διάρκεια συμπλήρωσής τους από τις συντάκτριες. Η περίοδος που μοιράστηκαν τα ερωτηματολόγια ήταν τον Μάιο – Ιούνιο 2016. Υπήρξε η συγκατάθεση των γονιών - κηδεμόνων των παιδιών για την συμπλήρωση των ερωτηματολογίων οι οποίοι παρευρίσκονταν καθ’ όλη την διάρκεια της συμπλήρωσης του ερωτηματολογίου. Οι ίδιοι έκριναν ότι τα παιδιά δεν καταλαβαίνουν την έννοια των ερωτήσεων 18, 20 (οι οποίες και απευθύνονται σε μεγαλύτερης ηλικίας άτομα) και οι οποίες δεν απαντήθηκαν από τα παιδιά. Η ανάπτυξη του CSAI-2 επιτρέπει στους ερευνητές την αξιόπιστη μέτρηση του γνωστικού άγχους, του σωματικού άγχους, του βαθμού αυτοπεποίθησης και της έλλειψης συγκέντρωσης του ατόμου. Επιπροσθέτως, η ανάπτυξη των πολλαπλών σχεδιασμών έρευνας παρέχει μία μέθοδο για την εξέταση των παρεμβάσεων της μείωσης του άγχους. Θα πρέπει να δοθεί ιδιαίτερη προσοχή στις ανάγκες των αθλητών, στο πλαίσιο της αθλητικής ψυχολογίας ώστε να υπάρξει το καλύτερο δυνατό αποτέλεσμα.Ν

RFC1 expansions are a common cause of idiopathic sensory neuropathy

After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy of unknown origin. Since a sensory neuropathy/neuronopathy is identified in all patients with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that RFC1 expansions could underlie a fraction of idiopathic sensory neuropathies also diagnosed as chronic idiopathic axonal polyneuropathy. We retrospectively identified 225 patients diagnosed with chronic idiopathic axonal polyneuropathy (125 sensory neuropathy, 100 sensory-motor neuropathy) from our general neuropathy clinics in Italy and the UK. All patients underwent full neurological evaluation and a blood sample was collected for RFC1 testing. Biallelic RFC1 expansions were identified in 43 patients (34%) with sensory neuropathy and in none with sensory-motor neuropathy. Forty-two per cent of RFC1-positive patients had isolated sensory neuropathy or sensory neuropathy with chronic cough, while vestibular and/or cerebellar involvement, often subclinical, were identified at examination in 58%. Although the sensory ganglia are the primary pathological target of the disease, the sensory impairment was typically worse distally and symmetric, while gait and limb ataxia were absent in two-thirds of the cases. Sensory amplitudes were either globally absent (26%) or reduced in a length-dependent (30%) or non-length dependent pattern (44%). A quarter of RFC1-positive patients had previously received an alternative diagnosis, including Sj\uf6gren's syndrome, sensory chronic inflammatory demyelinating polyneuropathy and paraneoplastic neuropathy, while three cases had been treated with immune therapies

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment

VAMP2 encodes the vesicular SNARE protein VAMP2 (also called synaptobrevin-2). Together with its partners syntaxin-1A and synaptosomal-associated protein 25 (SNAP25), VAMP2 mediates fusion of synaptic vesicles to release neurotransmitters. VAMP2 is essential for vesicular exocytosis and activity-dependent neurotransmitter release. Here, we report five heterozygous de novo mutations in VAMP2 in unrelated individuals presenting with a neurodevelopmental disorder characterized by axial hypotonia (which had been present since birth), intellectual disability, and autistic features. In total, we identified two single-amino-acid deletions and three non-synonymous variants affecting conserved residues within the C terminus of the VAMP2 SNARE motif. Affected individuals carrying de novo non-synonymous variants involving the C-terminal region presented a more severe phenotype with additional neurological features, including central visual impairment, hyperkinetic movement disorder, and epilepsy or electroencephalography abnormalities. Reconstituted fusion involving a lipid-mixing assay indicated impairment in vesicle fusion as one of the possible associated disease mechanisms. The genetic synaptopathy caused by VAMP2 de novo mutations highlights the key roles of this gene in human brain development and function