Traducción y adaptación transcultural del cuestionario para niños “Barriers and facilitators of sports in children with physical disabilities (BaFSCH)” para su uso al español en Chile (Transcultural translation and adaptation of the questionnaire for chi

El objetivo de este estudio fue realizar una adecuación transcultural del cuestionario “Barriers and facilitators of sports in children with physical disabilities” al idioma español hablado en Chile. Para el proceso de traducción y adaptación transcultural se siguieron los pasos de traducción directa, síntesis de traducciones, traducción inversa, consolidación de comité de expertos y pre-test. En cuanto a los resultados se realizaron los pasos según la metodología desarrollando las adaptaciones necesarias que se consideraron desde la opinión de los expertos y traductores que participaron de la adaptación del escrito. Participaron 93 sujetos con un promedio de edad de 13,95 años ± 4,84 donde hubo 42 niñas (45,16%) y 51 niños (54,84%). La mayoría de las y los participantes asisten a educación básica (62,36%), con condiciones no definidas (34,40%) seguido de quienes tiene dificultades para movilizarse (12,90%) y quienes no comprenden bien las indicaciones (12,90%). Se considera que este cuestionario puede ser una herramienta adecuada para conocer la percepción de los participantes lo que puede finalmente impactar en diversas acciones y políticas que permitan la participación efectiva en actividad física y deporte bajo un enfoque de derecho social. Abstract. The objective of this study was to carry out a cross-cultural adaptation of the questionnaire “Barriers and facilitators of sports in children with physical disabilities” into the Spanish language spoken in Chile. For the translation and cross-cultural adaptation process, the steps of direct translation, translation synthesis, reverse translation, consolidation of the expert committee and pre-test were followed. Regarding the results, the steps were carried out according to the methodology developing the necessary adaptations that were considered from the opinion of the experts and translators who participated in the adaptation of the writing. 93 subjects participated with an average age of 13,95 ± 4,84 years, where there were 42 girls (45,16%) and 51 boys (54,84%). Most of the participants attend basic education (62,36%), with undefined conditions (34,40%) followed by those who have difficulties to move around (12,90%) and those who do not understand the indications well (12,90%). It is considered that this questionnaire can be an adequate tool to know the perception of the participants, which can ultimately impact on various actions and policies that allow effective participation in physical activity and sport under a social law approach.

International Word “аванс” in Russian and Bulgarian languages: comparative analysis

The article examines the functioning of the international word "аванс", formed from the French "avance" in the Russian and Bulgarian languages. By comparing the existing semantic capacity of the concept of "аванс" in the Russian, Bulgarian and French languages, the article reveals the nationally specific components of the meanings of these lexical units. The correlation of the secondary meanings recorded in the Slavic languages in question with the accompanying set of lexical and semantic variants of the original French word is established. The authors come to the conclusion that the translation of the international word “аванс” from Russian into Bulgarian in certain contexts requires the method of concretization, while the reverse translation requires the method of generalization.

Translation, cross-cultural adaptation and psychometric evaluation of the Brazilian version of the Cystic Fibrosis Knowledge Scale (CFKS)

Background Information on the level of knowledge about cystic fibrosis (CF) among affected people and their families is still scarce. Objective This study aimed to translate, cross-culturally adapt and analyze the psychometric properties of the Brazilian version of Cystic Fibrosis Knowledge Scale (CFKS). Materials and methods The translation and cross-cultural adaptation involved the stages of translation, synthesis of translations, reverse translation, synthesis of reverse translations, review by a multi-professional committee of experts and pre-testing. The reliability, viability, construct, predictive, concurrent and discriminant validity were investigated. Results The sample consisted of 40 individuals with cystic CF, 47 individuals with asthma, 242 healthcare workers and 81 students from the health area. The Brazilian version of the CFKS presented high internal consistency (α = 0.91), moderate floor and ceiling effects, without differences in the test-retest scores. An analysis of factorial exploration identified three dimensions. Confirmatory factor analysis led to an acceptable data-model fit. There was good predictive validity, with a difference in the scores among all the evaluated groups (p <0.001), as well as good discriminant validity since individuals with asthma had greater knowledge of asthma compared to CF (r = 0.401, p = 0.005; r2 = 0.162). However, there was no difference between the diagnosis time and knowledge about CF (r = -0.25, p = 0.11; r2 = 0.06), either between treatment adherence and knowledge about CF (r = -0.04, p = 0.77; r2 = 0.002). Conclusion The Brazilian version of the CFKS indicated that the scale is able to provide valid, reliable and reproducible measures for evaluating the knowledge about CF.

Caught in vicious circles: a perspective on dynamic feed-forward loops driving oxidative stress in schizophrenia

A growing body of evidence has emerged demonstrating a pathological link between oxidative stress and schizophrenia. This evidence identifies oxidative stress as a convergence point or “central hub” for schizophrenia genetic and environmental risk factors. Here we review the existing experimental and translational research pinpointing the complex dynamics of oxidative stress mechanisms and their modulation in relation to schizophrenia pathophysiology. We focus on evidence supporting the crucial role of either redox dysregulation, N-methyl-D-aspartate receptor hypofunction, neuroinflammation or mitochondria bioenergetics dysfunction, initiating “vicious circles” centered on oxidative stress during neurodevelopment. These processes would amplify one another in positive feed-forward loops, leading to persistent impairments of the maturation and function of local parvalbumin-GABAergic neurons microcircuits and myelinated fibers of long-range macrocircuitry. This is at the basis of neural circuit synchronization impairments and cognitive, emotional, social and sensory deficits characteristic of schizophrenia. Potential therapeutic approaches that aim at breaking these different vicious circles represent promising strategies for timely and safe interventions. In order to improve early detection and increase the signal-to-noise ratio for adjunctive trials of antioxidant, anti-inflammatory and NMDAR modulator drugs, a reverse translation of validated circuitry approach is needed. The above presented processes allow to identify mechanism based biomarkers guiding stratification of homogenous patients groups and target engagement required for successful clinical trials, paving the way towards precision medicine in psychiatry.

mRNA codon optimization with quantum computers

Reverse translation of polypeptide sequences to expressible mRNA constructs is a NP-hard combinatorial optimization problem. Each amino acid in the protein sequence can be represented by as many as six codons, and the process of selecting the combination that maximizes probability of expression is termed codon optimization. This work investigates the potential impact of leveraging quantum computing technology for codon optimization. A Quantum Annealer (QA) is compared to a standard genetic algorithm (GA) programmed with the same objective function. The QA is found to be competitive in identifying optimal solutions. The utility of gate-based systems is also evaluated using a simulator resulting in the finding that while current generations of devices lack the hardware requirements, in terms of both qubit count and connectivity, to solve realistic problems, future generation devices may be highly efficient.

Inborn Errors of Immunity (IEI) und „Reverse Translation“ – was kann der Immunologe von Immundefekten lernen?

Patienten mit angeborenen Defekten der Immunität stellen sich Ärztinnen und Ärzten auf unterschiedlichste Weise vor, bei Weitem nicht nur durch gehäufte oder schwere Infektionen. Die Aufklärung der genetischen und molekularen Grundlagen von „Inborn Errors of Immunity“ (IEI) trägt fundamental zum Verständnis der Bedeutung nicht-redundanter Bestandteile für das menschliche Immunsystem bei. Beispiele aus einer großen immunologischen Ambulanz am Helios Klinikum Krefeld werden hier vorgestellt.

Interpretation of the Road and Associated Realities in the First French Translation of Mikhail Lermontov’s Novel “A Hero of Our Time”

The anthropological turn in humanitarian thought stimulated the interest in studying the linguistic personality and individual translator's style. The paper analyses that of A. A. Stolypin (Mongo), a well-known person to the specialists of Russian literature due to his relationships with Mikhail Lermontov, a famous Russian poet. The publication of Lermontov’s novel “A Hero of Our Time” became at the time a significant event in the emerging literary life of Russia marked by Western aesthetic influences. The first French translation of this emblematic novel appeared in 1843 in the Parisian newspaper “La Démocratie pacifique: journal des intérêts des gouvernements et des peuples”. It was made by mentioned above A. A. Stolypin (Mongo), the poet’s close relative and comrade-in-arms who had reasons to leave Russia for some time. The philologists have long known about this translation, but it never became the subject of a close analysis. Filling the existing gap, we aim to introduce this notable translation into scientific circulation. The present paper is part of our research project which is based on Bakhtin’s theory of the literary chronotope, since the road chronotope is a crucial component of Lermontov’s novel. Coupled with the concept of “thematic grid” by I. V. Arnold, it forms the theoretical framework for the current study. To enhance its statistical validity, we trans-formed the Russian edition of the novel and Stolypin’s French translation into digital research corpus. Through the lens of the above theoretical tools, we view the most frequent lexical units denominating the specific road realities, including those of the North Caucasus, as they are key thematic characteristics of time and place. Therefore, their interpretation may serve to evaluate the reproducibility of the “thematic grid” and reveal the nature of the most consistently repeated trаnslator’s solutions. An additional contextual analysis using the reverse translation completes the data and serves for a more detailed and contrasted illustration of the translator’s style. Our analysis reveals the existence of a certain “blurring” of the “thematic grid” in the target text generally due to the use of specification of meaning, hyponyms instead of terms with a broader meaning. But this feature of Stolypin’s translator style does not hinder the adequate recreation of the source text and allows the reader to feel the originality of the time and space in which the events, closely related to the Caucasus Mountain region, developed.

Increased locomotor activity via regulation of GABAergic signalling in foxp2 mutant zebrafish—implications for neurodevelopmental disorders

Recent advances in the genetics of neurodevelopmental disorders (NDDs) have identified the transcription factor FOXP2 as one of numerous risk genes, e.g. in autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). FOXP2 function is suggested to be involved in GABAergic signalling and numerous studies demonstrate that GABAergic function is altered in NDDs, thus disrupting the excitation/inhibition balance. Interestingly, GABAergic signalling components, including glutamate-decarboxylase 1 (Gad1) and GABA receptors, are putative transcriptional targets of FOXP2. However, the specific role of FOXP2 in the pathomechanism of NDDs remains elusive. Here we test the hypothesis that Foxp2 affects behavioural dimensions via GABAergic signalling using zebrafish as model organism. We demonstrate that foxp2 is expressed by a subset of GABAergic neurons located in brain regions involved in motor functions, including the subpallium, posterior tuberculum, thalamus and medulla oblongata. Using CRISPR/Cas9 gene-editing we generated a novel foxp2 zebrafish loss-of-function mutant that exhibits increased locomotor activity. Further, genetic and/or pharmacological disruption of Gad1 or GABA-A receptors causes increased locomotor activity, resembling the phenotype of foxp2 mutants. Application of muscimol, a GABA-A receptor agonist, rescues the hyperactive phenotype induced by the foxp2 loss-of-function. By reverse translation of the therapeutic effect on hyperactive behaviour exerted by methylphenidate, we note that application of methylphenidate evokes different responses in wildtype compared to foxp2 or gad1b loss-of-function animals. Together, our findings support the hypothesis that foxp2 regulates locomotor activity via GABAergic signalling. This provides one targetable mechanism, which may contribute to behavioural phenotypes commonly observed in NDDs.