The material world of digital fictions

This paper explores the interdependency between digital matter and the representational or mimetic layer of the digital game object. The main aim is to foreground the mechanisms by which the representationalelements of the game world emerge from the materiality of the process of play. These mechanisms are examined from the perspective of the ontology of the game object. The issue of digital materiality will be linked with the aesthetical explorations of Tadeusz Kantor, who emphasised the relation between the materiality of the theatre and its fictional elements. As the main example of this analysis, I will focus on Undertale (Toby Fox, 2015) as an example of a game that plays with the boundaries between the fictional world being presented and the elements of digital materiality that are usually hidden from the player’s sight.This paper explores the interdependency between digital matter and the representational or mimetic layer of the digital game object. The main aim is to foreground the mechanisms by which the representationalelements of the game world emerge from the materiality of the process of play. These mechanisms are examined from the perspective of the ontology of the game object. The issue of digital materiality will be linked with the aesthetical explorations of Tadeusz Kantor, who emphasised the relation between the materiality of the theatre and its fictional elements. As the main example of this analysis, I will focus on Undertale (Toby Fox, 2015) as an example of a game that plays with the boundaries between the fictional world being presented and the elements of digital materiality that are usually hidden from the player’s sight

Spotkanie z obcym – gra wideo jako metafora przestrzeni współczesnego miasta

Encounter With the Other: Video Game As a Metaphor Of a Contemporary City SpaceThe aim of the article is to present the phenomenon of video games as a metaphor of the contemporary social relations. Virtual space of video game is compared to the structure of contemporary city, therefore it enables new perspectives for research. This analysis focuses on the concept of the “other” and its presence in different aspects of the game world. The article emphasises the moment of encounter with the virtual other in the context of single-player game, that unintendedly becomes a metaphor of contemporary social relations

Clinical phenotype heterogeneity in a family with ε-sarcoglycan gene mutation

Aim of the study. This paper describes six cases of patients with myoclonus-dystonia syndrome who are members of a family in which an SGCE gene mutation has been confirmed.Clinical rationale for the study. Myoclonus-dystonia syndrome is a very rare disease, with an incidence in Europe of about 2 in every million. Due to the fact that only a few case reports of this illness are accessible in the literature, the material we collected seems to be valuable for clinical practice.Materials and methods. A history was taken, and physical and genetic examinations of the patients were performed. Furthermore, the clinical examination of three patients was video-recorded. Results. The clinical picture of the disease varied significantly between the described individuals, from a healthy carrier of the SGCE mutation to patients presenting mild to moderate symptoms. The differences concerned the age at onset of the disease, the initial symptoms, the intensity of involuntary movements, and the predominant symptoms. In addition to the typical movement disorders which are myoclonus and dystonia, in the described family there was also the coexistence of epilepsy, obsessive-compulsive behaviour, dyslexia, dysgraphia, non-harmonious development of cognitive processes, as well as mildphenotypic features of muscular dystrophy. The mutation (NM_001099401.2:c.806-809delACTG) found in the presented family has not been described elsewhere.Conclusions and clinical implications. Our description of six cases of patients demonstrates the heterogeneity of the natural course of the disease, even in patients with the same mutation. It seems reasonable to regularly examine relatives of patients with myoclonus-dystonia syndrome, who should be observed for involuntary movements as well as non-motor symptoms

Synthesis of Dolichols in Candida albicans is Co-Regulated With Elongation of Fatty Acids

Abstract: Protein glycosylation requires dolichyl phosphate as a carbohydrate carrier. Dolichols are α-saturated polyprenols, and their saturation in S. cerevisiae is catalyzed by polyprenyl re-ductase Dfg10 together with some other unknown enzymes. The aim of this study was to identi-fy such enzymes in Candida. The Dfg10 polyprenyl reductase from S. cerevisiae comprises a C-terminal 3-oxo-5-alpha-steroid 4-dehydrogenase domain. Alignment analysis revealed such a domain in two ORFs (orf19.209 and orf19.3293) from C. albicans, which were similar, respective-ly, to Dfg10 polyprenyl reductase and Tsc13 enoyl-transferase from S. cerevisiae. Deletion of orf19.209 in Candida impaired saturation of polyprenols. The Tsc13 homologue turned out not to be capable of saturating polyprenols, but limiting its expression reduce the cellular level of dol-ichols and polyprenols. This reduction was not due to a decreased expression of genes encoding cis-prenyltransferases from the dolichol branch but to a lower expression of genes encoding en-zymes of the early stages of the mevalonate pathway. Despite the resulting lower consumption of acetyl-CoA, the sole precursor of the mevalonate pathway, it was not redirected towards fatty acid synthesis or elongation. Lowering the expression of TSC13 decreased the expression of the ACC1 gene encoding acetyl-CoA carboxylase, the key regulatory enzyme of fatty acid synthesis and elongation

Places of Memory and Oblivion in the Cultural Landscapes of the Polish Jurassic Highland. References and Extensions

Publikacja powstała w ramach projektu badawczego „Miejsca pamięci i zapomnienia. Interdyscyplinarne badania północnych terenów Jury Krakowsko-Częstochowskiej”. | The publication was prepared as part of the project Places of Memory and Oblivion. Interdisciplinary Studies of the Northern Areas of the Polish Jurassic Highland.Prezentowany tom zamyka serię 6 opublikowanych wcześniej raportów badawczych, przygotowanych w ramach projektu „Miejsca pamięci i zapomnienia. Badania interdyscyplinarne północnych terenów Jury Krakowsko-Częstochowskiej”, zrealizowanego na Wydziale Filozoficzno-Historycznym Uniwersytetu Łódzkiego w latach 2014–2019 w ramach Narodowego Programu Rozwoju Humanistyki Ministerstwa Nauki i Szkolnictwa Wyższego. Nie jest on jednak ani rekapitulacją samych badań, ani podsumowaniem treści zawartych w poprzednich tomach serii. Idea, która mu przyświeca, przewiduje raczej tematyczne splecenie, lecz zarazem swobodne nawiązanie do tego, co w badaniach w Jurze zrobiliśmy lub do tego, co o nich napisaliśmy. Szczególnie ważne są w nim poszerzenia i uzupełnienia motywów badawczych oraz wątków pisarskich znanych z poprzednich tomów serii, ale także wprowadzenie wątków i motywów nowych, podpowiadających świeże ujęcia i alternatywne spojrzenia. Autorzy tekstów pomieszczonych w tym tomie nie uchylają się więc od ujęć krytycznych i spojrzeń odmiennych wobec tych przyjętych w badaniach w Jurze, w szczególności wobec założeń oraz kroków badawczych przyjętych i realizowanych przez siebie samych. Ich teksty często mają przez to charakter „sięgających w głąb spraw” komentarzy metodologicznych. Czytelników, znających teksty z poprzednich tomów, teksty z tego tomu z pewnością przez to zainteresują. Czytelników, którzy dawniejszych tekstów jeszcze nie znają, zachęcą – mamy nadzieję – do sięgnięcia po nie i do ich konfrontacji z tekstami przynoszącymi tworzone dziś nawiązania i poszerzenia. Do uczestnictwa w tym wydawniczym przedsięwzięciu zaprosiliśmy studentów biorących udział w jurajskich badaniach, ale również autorów przyglądających się dotąd naszym badaniom z zewnątrz, lecz i ich tematyką, i ich metodologią, i – co równie ważne – ich terenową realizacją autentycznie zainteresowanych, często mających zgromadzone w Jurze własne doświadczenia biograficzne oraz badawcze.Praca naukowa finansowana w ramach programu Ministra Nauki i Szkolnictwa Wyższego pod nazwą „Narodowy Program Rozwoju Humanistyki” w latach 2014–2019. Projekt realizowany jest na Wydziale Filozoficzno-Historycznym Uniwersytetu Łódzkiego

Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

Intra-acting bio-object : a posthuman approach to the player‐game relation

The main aim of this article is to explore how posthuman values and premises can change the approach to video game research, in terms of reframing the relation between game and player as a meaning-making process. The idea of the bio-object, which originated in Tadeusz Kantor's avant-garde theatre, is introduced and reread in the context of the critical posthumanism and new materialism of Karen Barad, especially her concept of intra-action. By meshing together Kantor's and Barad's ideas, a framework is developed for conceptualizing the bond between the player and the video game object, pointing out how their constant rivalry is not only resolved in meaning-generative tension, but also intra-actively shapes their ontic borders. The game and the player become equal in this new unity, and the video game object stops being perceived as a secondary to the player and can be analysed as the equal partner in this relation