Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been identified to cause ARCI: TGM1, ALOX12B, ALOXE3, NIPAL4, CYP4F22, ABCA12, PNPLA1, CERS3, SDR9C7, and SULT2B1. The main focus of this report is the mutational spectrum of the genes ALOX12B and ALOXE3, which encode the epidermal lipoxygenases arachidonate 12-lipoxygenase, i.e., 12R type (12R-LOX), and the epidermis-type lipoxygenase-3 (eLOX3), respectively. Deficiency of 12R-LOX and eLOX3 disrupts the epidermal barrier function and leads to an abnormal epidermal differentiation. The type and the position of the mutations may influence the ARCI phenotype; most patients present with a mild erythrodermic ichthyosis, and only few individuals show severe erythroderma. To date, 88 pathogenic mutations in ALOX12B and 27 pathogenic mutations in ALOXE3 have been reported in the literature. Here, we presented a large cohort of 224 genetically characterized ARCI patients who carried mutations in these genes. We added 74 novel mutations in ALOX12B and 25 novel mutations in ALOXE3. We investigated the spectrum of mutations in ALOX12B and ALOXE3 in our cohort and additionally in the published mutations, the distribution of these mutations within the gene and gene domains, and potential hotspots and recurrent mutations

Sanctions, Benefits, and Rights: Three Faces of Accountability

As countries throughout the world democratize and decentralize, citizen participation in public life should increase. In this paper, I suggest that democratic participation in local government is enhanced when citizens can reply affirmatively to at least three questions about their ability to hold local officials accountable for their actions: Can citizens use the vote effectively to reward and punish the general or specific performance of local public officials and/or the parties they represent? Can citizens generate response to their collective needs from local governments? Can citizens be ensured of fair and equitable treatment from public agencies at local levels? The findings of a study of 30 randomly selected municipalities in Mexico indicate that, over the course of a decade and a half, voters were able to enforce alternation in power and the circulation of elites, but not necessarily to transmit unambiguous messages to public officials or parties about performance concerns. More definitively, citizens were able to build successfully on prior political experiences to extract benefits from local governments. At the same time, the ability to demand good performance of local government as a right of citizenship lagged behind other forms of accountability

Illusions between the real and the virtual (IRV) as new art forms : presence and wonder

Les illusions surprennent, amusent et émerveillent. Si parmi les intentions esthétiques du créateur, se trouve l’objectif de provoquer chez le spectateur des interrogations face à sa perception de la réalité quotidienne, alors les illusions peuvent devenir un atout essentiel dans la création artistique.Par ailleurs, le domaine de la réalité virtuelle et mixte, avec ses technologies numériques d’immersion et d’interaction, offre de nouvelles possibilités pour « transporter » le spectateur dans des mondes inhabituels, imaginés par les artistes.Ainsi, à partir de mon double intérêt pour les illusions et la réalité virtuelle et mixte, j’ai été amenée à développer une recherche-création sur les nouvelles formes artistiques d’illusion. Inspirée de la méthodologie complexe d’Edgard Morin, j’ai exploré théoriquement et pratiquement l’espace des illusions entre le réel et le virtuel (IRV), afin d’identifier et de créer ces nouvelles formes artistiques émergeant de la synergie des relations entre le spectateur, l’œuvre et l’artiste. J’ai composé ma propre palette de création d’IRV, qui parcourt les trois frontières : celle entre le réel et le virtuel, celle entre le réel et l’illusion, et enfin celle entre le virtuel et l’illusion. Et j’ai clarifié ma démarche artistique émergeant de cette recherche : viser à l’exploration de nouvelles expériences d’illusions entre le réel et le virtuel, afin d’atteindre de plus grandes profondeurs d’illusion et de présence dans l’expérience proposée au spectateur. Je me rapproche alors de ce que je nomme la survirtualité, le virtuel étant un merveilleux moyen pour imaginer, rêver des mondes d’illusions imbriquées.Illusions surprise, amuse and amaze. If among the aesthetic intentions of the creator is the objective of raising questions in the spectator's mind about her own perception of everyday reality, then illusions can become an essential asset of artistic creation. Furthermore, we observe that the field of virtual and mixed reality, with its digital technologies of immersion and interaction, provides new possibilities to "transport" the spectator in unusual worlds, imagined by the artists. Thus, from my double interest in illusions and virtual and mixed reality, I was led to develop a research-creation on new artistic forms of illusion. Inspired from Edgard Morin's method of complexity, I theoretically and practically explored the space of illusions between the real and the virtual (IRV), to identify and create these new art forms emerging from the synergy of the relationship between the spectator, the artistic work and the artist. I composed my own palette for the creation of IRV, which covers the three borders: the one between the real and the virtual, the one between the virtual ant the illusion, and finally the one between the virtual and the illusion. I thus clarified my artistic approach emerging from this research: aiming at the development of experiments nesting several levels of illusions of reality, with the help of real and virtual apparatuses, and striving to explore illusions unique to the virtual, to achieve deeper illusion and presence in the experience offered to the spectator. I can then go closer to what I call the survirtuality, the virtual being a wonderful way to imagine, to dream worlds of nested illusions

Entre présence et illusion : créer avec la réalité virtuelle

« Vivre pleinement la magie d’un effet, c’est redécouvrir un authentique plaisir d’être » Lors d’une exposition, je regarde les œuvres, mais également le public qui les regarde. J’ai été intriguée par cette relation qui se forme entre l’œuvre et le spectateur : comment l’œuvre le capte, comment la relation perdure, et comment le spectateur se retrouve transformé par cette rencontre ? C’est aussi bien le processus de création que le processus de réception de l’œuvre qui m’intéresse. De cet int..

Floral scents induce recall of navigational and visual memories in honeybees

During foraging flights, honeybees learn visual and chemical cues associated with a food source. We investigated whether learned olfactory cues can trigger visual and navigational memories in honeybees that assist them in navigating back to a known food source. In a series of experiments, marked bees were trained to forage at one or more sugar water feeders, placed at different outdoor locations and carrying different scents or colours. We then tested the ability of these bees to recall the locations (or colours) of these food sites and to fly to them, when the training scents were blown into the hive, and the scents and food at the feeders were removed. The results show that (1) bees, trained to a single-scented feeder at a given location, can be induced to fly to the same location by blowing the scent into the hive; (2) bees, trained to two feeders, each placed at a different location and carrying a different scent, can be induced to fly to either location by blowing the appropriate scent into the hive; and (3) bees, trained to two feeders, each decorated with a different colour and carrying a different scent, can be induced to find a feeder of either colour by blowing the appropriate scent into the hive. Thus, familiar scents can trigger navigational and visual memories in experienced bees. Our findings suggest that the odour and taste of the nectar samples that are distributed by successful foragers on returning to the hive, may trigger recall of navigational memories associated with the food site in experienced recruits and, thus, facilitate their navigation back to the site

Réflexions rétrospectives et prospectives sur les avatars et acteurs virtuels issues d’explorations expérimentales artistiques

Deux chercheuses-artistes des Arts et technologies de l’image s’entretiennent à deux occasions avec les co-directeurs de ce numéro d’Hybrid pour éclairer les enjeux des acteurs virtuels et des avatars, en s’appuyant sur leurs expériences respectives au sein d’un laboratoire universitaire (INREV-AIAC de Paris 8) et d’un festival d’art numérique (Laval Virtual/Recto VRso). La première rencontre traite de la question des dynamiques arts-sciences concernant les protagonistes virtuels selon les trajectoires rétrospectives et actuelles. Interrogeant les avatars et acteurs virtuels, ils livrent leur analyse sur leur expressivité, sensibilité, impression de vie, imperfection, ainsi que sur l’empathie qu’ils provoquent, et sur l’externalisation/intégration des compétences humaines. Se repère alors ce passage du corps réel du spectateur vers le virtuel par l’avatarisation, abordant ainsi leur humanisation, versus notre artificialisation et l’émergence de « co-espèces » virtuelles. La seconde rencontre favorise un échange plus informel qui aide à reformuler les types d’hybridation. Y sont aussi débattues les possibles explorations artistiques et créatives des métavers par les avatars dans une visée prospective à partir de plusieurs questionnements : pluralité ou unicité des identités ; anticipation de l’évolutions des usages et hybridations. Au cœur du débat, se pensent les fonctions de l’art et des artistes, entre libertés et limites ; appropriations et subversions ; création d’univers singuliers, appelés ici « singulavers », ou simple investissement des espaces non artistiques pour tester les options possibles pour mieux vivre ensemble avec ou à travers ces créatures virtuelles

Prospective and retrospective reflections on avatars and virtual actors in artistic experimental exploration.

Two researchers and artists in the Art and Technology of the Image sat down twice with the co-editors of this issue of Hybrid to explore the stakes involved regarding virtual actors and avatars based on their respective experiences in the university laboratory (INREV-AIAC at Paris 8) and with a digital art festival (Laval Virtual/Recto VRso). The first interview grapples with the dynamic that exists between art and science as it pertains to virtual protagonists in terms of their current and retrospective trajectories. While discussing avatars and virtual actors, they share their analysis regarding their expressivity, their sensitive and thoughtful natures, their human likeness, their imperfections, the empathy they illicit and how they externalise and integrate human skills. From this, the journey from the spectator’s real body to a virtual one, through avatarisation, becomes visible. In this way, their humanisation can be addressed and contrasted with our artificialisation and the emergence of a virtual co-species. The second interview is more informal, which creates a context whereby types of hybridation can be reformulated. The researchers and designers discuss the scope of artistic and creative exploration in the metaverse through avatars with the objective of being prospective in light of several issues: plural or singular identities and anticipating how behaviour and hybridisations evolve. At the heart of the debate lies the function of art and artists, between freedom and constraint, appropriation and subversion, the creation of singular worlds, referred to as “singularverses,” or the simple occupation of non-artistic spaces to test the possibilities of living together better with or through virtual creatures. virtual actors, interactive avatars, hybridisation, research and creation, technological experiments, virtual exhibition, metavers

El cine como herramienta pedag?gica para el desarrollo del pensamiento cr?tico en los estudiantes del grado noveno del Colegio Rodrigo Lara Bonilla

132 p. Recurso Electr?nicoEsta propuesta nace de un proceso de investigaci?n Formativa en el colegio Rodrigo Lara Bonilla con los estudiantes del grado noveno (901), instituci?n educativa de car?cter p?blico, que se encuentra ubicada en la Cl. 64 # 29 ? 19 Sur (sede primaria), Carrera 43 a # 66-51 Sur (sede principal ? bachillerato) de la localidad 19 Ciudad Bol?var, en la ciudad de Bogot?, su PEI fundamentado en ?DERECHOS HUMANOS Y DEMOCRACIA?. Se pudo evidenciar que en una de las actividades que ten?a como objetivo la comprensi?n de lectura, los estudiantes presentaron dificultades como el no hacer inferencias, se quedan en la repetici?n del texto y no llevan a cabo un buen an?lisis. A partir de las dificultades presentadas por los estudiantes se plante? y ejecut? una propuesta de intervenci?n: ?El cine como herramienta pedag?gica para el desarrollo del pensamiento cr?tico en los estudiantes del grado noveno (901) del Colegio Lara Bonilla?. La propuesta de intervenci?n se llev? a cabo a trav?s talleres pedag?gicos dise?ados a partir de los gustos e inter?s del grupo, los cuales les permiti? adquirir una serie de habilidades para el desarrollo del pensamiento cr?tico, justificar el razonamiento y sus conclusiones en t?rminos de evidencias, conceptos, consideraciones del contexto y presentar el razonamiento en una forma clara; as? como lograr evaluar diversos par?metros, sin olvidar la capacidad del estudiante de autoanalizarse y examinarse, adem?s de poder interpretar ideas, situaciones o datos de diversas ?ndole, as? mismo la categorizaci?n y descodificaci?n de significados, examinar las evidencias, conjeturar alternativas y deducir conclusiones.This the proposal that is born of a process of investigation informative in the school Rodrigo Lara Bonilla with the students of the grade ninth (901), institution educative of public character, the location is in the Street (64#29-19 south) of the (primary school), and the career (43?#66-51 south) of the (high school) of the locality (19) - City Bol?var, of the city Bogot? D.C; The PEI, (institutionally education project) fundamental of the ?human rights and democracy?. Was achieved evidence that in a of the activities, that had aim the reading comprehension, students presented difficulties as make the inferences, also remain in the repetition of the text and do not carry out good analysis. Starting of the difficulties presented for the students, is has planned and executed a proposal of intervention: ?The cinema as pedagogic tools for the development critical thought in the students of the grade ninth (901) of the (primary school) Rodrigo Lara Bonilla?. The proposal of intervention, was carry out through workshops design pedagogic, starting of likes interest o the group, which allowed them to acquire, a series of the abilities for the development the critical thought, explain way the reasoning and your conclusions in evidence terms, concepts, considerations the context and presentation the reasoning in a form clear; as well as achieving evaluate various parameters, this includes capacity of the student of auto-analyzed and be examine, also of can interpreted ideas, situations o data of different sort, likewise the categorization and recodification of meaning, examine the evidence, guessing alternatives and draw conclusions. Palabras Claves: critical thought, cinema, pedagogic intervention. Keys words (Critical thought, cinema, pedagogic intervention

CIGALE, Capture of Interactional, Artistic, Cospeech and Expressive Gestures

International audienceCIGALE (Capture et Interaction avec des Gestes Artistiques, Langagiers et Expressifs) is an artistic and dialogical platform that explores the hybridization between human and virtual gestures in real time. This platform allows studying complementary aspects of gestures, from the linguistic field to the arts. CIGALE allows understanding the relationships between symbolic gestures (coverbal ones), expressive gestures (choral conducting and poetry) and full body gestures (mime). Starting from motion capture (1), we have created four databases of gestures. The platform allows to study and analyses gestures, strokes and meaning (2). We propose then to generate new gestures using genetic algorithm that converges to new gestures inspired by the ones of the database (3). In order to visualize the gestures, we can render the motion on different characters by changing body aspect(mesh), using particles effect or trails (4). At least, it’s possible to interact using gestures with the virtual characters that can answer autonomously to the user or to the audience (5)