Stage-directing the Virtual Reality Experience: Developing a Theoretical Framework for Immersive Literacy

Despite the incremental improvement and inclusion of immersive technologies in entertainment, training simulation, fine art, inclusive design, academia, and education; Virtual Reality (VR) still faces issues regarding its ability to compete with films and animation in visual storytelling without merging into the realm of video games. In 2015, Pixar’s Ed Catmull warned moviemakers that Virtual Reality is “not storytelling” and argued that the linear aspect of narratives poses an obstacle that cannot be overcome with VR. In contrast, Catmull argued that VR has immense application in games. However, VR creators have been pushing the boundaries and possibilities of delivering narratives in virtual spaces. In 2019, the VR experience “Gloomy Eyes” was presented at the Sundance festivals featuring a 30-minute story split between 3 episodes. The simulation is structured to provide its audience with some degrees of freedom while guiding them intuitively through the virtual space. In 2021, Blue Zoo also released a VR project titled “The Beast” featuring a cyclist powering up a snow-covered mountain. The short film was entirely created in Quill VR with the intention of being treated like a theatrical play rather than a film. While the creators of “The Beast” have explicitly mentioned the influence of theatre, “Gloomy Eyes” draws its visual language from similar theatrical roots. This paper argues that VR has been mistakenly compared to film and animation when it should be associated with theatre. The audience of both are not passive as they are during the screening of a film or animation. The space and the medium demands participation through their presence in the same space with the actors/characters. Theatre presents a promising candidate for extracting criteria that could be used to develop a visual language for VR. This research aims to formulate a framework for developing a VR visual language through comparison between character-driven narratives in VR such as “Gloomy Eyes” and “The Beast”. The comparative study establishes overlapping criteria and characteristics found in the structure, literacy, sound, and delivery format of narratives in a theatrical performance. These criteria are then outlined and discussed, drawing from affordance theory and discussions on aural and visual attention in theatre, to form a holistic view in approaching VR literacy

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

In the field of rare diseases, progress in molecular diagnostics led to the recognition that variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the context of biallelic inheritance, cause devastating neurodevelopmental disorders and infantile or childhood-onset neurodegeneration. TOR1A-associated arthrogryposis multiplex congenita 5 (AMC5) is a rare neurodevelopmental disorder arising from biallelic variants in TOR1A, a gene that in the heterozygous state is associated to torsion dystonia-1 (DYT1 or DYT-TOR1A), an early-onset dystonia with reduced penetrance. While 15 individuals with TOR1A-AMC5 have been reported (less than 10 in detail), a systematic investigation of the full disease-associated spectrum has not been conducted. Here, we assess the clinical, radiological and molecular characteristics of 57 individuals from 40 families with biallelic variants in TOR1A. Median age at last follow-up was 3 years (0-24 years). Most individuals presented with severe congenital flexion contractures (95%) and variable developmental delay (79%). Motor symptoms were reported in 79% and included lower limb spasticity and pyramidal signs, as well as gait disturbances. Facial dysmorphism was an integral part of the phenotype, with key features being a broad/full nasal tip, narrowing of the forehead and full cheeks. Analysis of disease-associated manifestations delineated a phenotypic spectrum ranging from normal cognition and mild gait disturbance to congenital arthrogryposis, global developmental delay, intellectual disability, absent speech and inability to walk. In a subset, the presentation was consistent with fetal akinesia deformation sequence with severe intrauterine abnormalities. Survival was 71% with higher mortality in males. Death occurred at a median age of 1.2 months (1 week - 9 years) due to respiratory failure, cardiac arrest, or sepsis. Analysis of brain MRI studies identified non-specific neuroimaging features, including a hypoplastic corpus callosum (72%), foci of signal abnormality in the subcortical and periventricular white matter (55%), diffuse white matter volume loss (45%), mega cisterna magna (36%) and arachnoid cysts (27%). The molecular spectrum included 22 distinct variants, defining a mutational hotspot in the C-terminal domain of the Torsin-1A protein. Genotype-phenotype analysis revealed an association of missense variants in the 3-helix bundle domain to an attenuated phenotype, while missense variants near the Walker A/B motif as well as biallelic truncating variants were linked to early death. In summary, this systematic cross-sectional analysis of a large cohort of individuals with biallelic TOR1A variants across a wide age-range delineates the clinical and genetic spectrum of TOR1A-related autosomal-recessive disease and highlights potential predictors for disease severity and survival

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

International audienceTo the Editor:The Aicardi–Goutières syndrome is a genetic encephalopathy that is associated with childhood illness and death. The syndrome is hypothesized to be due to misidentification of self-derived nucleic acids as nonself and the subsequent induction of a type I interferon–mediated response that simulates an antiviral reaction.1 Endogenous retroelements, mobile genetic elements that can be transcribed to RNA and then to DNA by reverse transcription, constitute 40% of the human genome and represent a potential source of immunostimulatory nucleic acid in patients with this syndrome.

Etanercept concentration and immunogenicity do not influence the response to Etanercept in patients with juvenile idiopathic arthritis

International audienceObjective: To investigate the relationship of clinical response of Juvenile Idiopathic Arthritis (JIA) to etanercept (ETN) with ETN levels, and the presence of anti-drug antibodies to ETN (ADAb). Methods: Prospective study of JIA patients under 18 years old. Clinical and pharmacological data were collected at two visits. JIA clinical inactivity and activity were assessed according to the Wallace criteria and to the Juvenile Arthritis Disease Activity Score (JADAS). ETN and ADAb serum levels assessments were determined using ELISA-based assays. Results: 126 patients were enrolled. The median duration of ETN treatment at inclusion was 569 days (range 53-2340). ADAb were undetectable ( 25 ng/mL in 2/218 samples. No significant relationship between ETN concentration and the clinical inactivity status and JIA activity was found using either univariate logistic regression or multiple logistic regression analysis, adjusted on one individual descriptors, time since diagnosis, time of sampling, use of corticosteroids or methotrexate and classification of JIA. No correlation was found between the remission status and the detection of ADAb. Conclusion: This study did not demonstrate any correlation between JIA activity and circulating ETN levels in a large population of patients with JIA previously treated with ETN for at least 1.5 months. As described for adults, our study confirms that ETN is marginally immunogenic in pediatric patients. These results do not support the clinical usefulness of a monitoring of ADAb or ETN concentrations for the management of this group of JIA patients if they fail to achieve clinical inactive disease. (C) 2018 Elsevier Inc. All rights reserved