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V. Micheli, M. Bertelli, G. Jacomelli, A. Santucci and G. Bernardini

Abstract

Lesch-Nyhan Disease (LND) is a rare X-linked recessive metabolic and neurological syndrome due to the deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT). Besides its well known “housekeeping” function this purine salvage enzyme has revealed an unexpected role in neurodevelopment, unveiled by the peculiar neurological symptoms flanking hyperuricemia in LND: dystonia, choreoathetosis, compulsive self-injurious behaviour. Several lines of research have tried to find the molecular basis for the neurological phenotype after the disease was first described in 1964. Dopaminergic deficit was then found to underlie the neurologic symptoms but the aetiology for such alteration seemed inexplicable. A number of detailed studies in the last 50 years addressed the genetic, metabolic, cognitive, behavioral and anatomical features of this disease. Initial investigations seeked for accumulation of toxic metabolites or depletion of essential molecules to disclose potential connections between purine recycling and neuronal dysfunction. In the last two decades sophisticated biotechnological methods were used for a deeper insight in the genetic and molecular aspects, unveiling a network of combined gene dysregulations in neuronal development and differentiation producing neurotransmission defects. These studies, conducted with several different approaches, allowed consistent steps forward, demonstrating transcriptional aberrations affecting different metabolic pathways in HPRT deficiency, yet leaving many questions still unsolved.

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O.A Gavrilyuk

Abstract

The paper emphasises the potential of the autonomy-oriented approach as a scientific basis for the development of innovative training practices in medical universities of Russia. Based on a review of research, theory, and current teaching practices in Professor V.F. Voino-Yasenetsky Krasnoyarsk State Medical University, the paper considers both theoretical and practical aspects of the autonomy-oriented approach implementation in higher medical education. The benefits of the autonomy-oriented approach for both undergraduate and postgraduate medical students are demonstrated from the perspective of the Self-Determination Theory. Our findings indicate that the autonomy-oriented approach in higher medical education is associated with a more “personalised” teaching style through supporting students’ self-determination, engagement and autonomy. The summative evaluation of the results of the study with participation of 54 medical students and 33 medical university teachers suggests that the use of the autonomy-oriented approach in higher medical education leads to effective implementation of creative, innovative, contextual and problem-based training techniques as well as students’ and teachers’ personal and professional self-development.

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Elke Knisel

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Elke Knisel

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Konrad Kleiner, Elisabeth Lenz, Malgorzata Bronikowska, Adam Kantanista, Monika Ciekot, Ida Laudanska-Krzeminska, Carmen Cabrera Rivas, Ralf Erdmann and Irena Parry Martínkova

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David Cañada, Marcela Gonzáles Gross, Adam Kantanista, Ida Laudanska-Krzeminska, Malgorzata Bronikowska, Monika Ciekot, Elisabeth Lenz and Dorit Simon

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Konrad Kleiner, Irena Parry Martínkova, Elisabeth Lenz and Annette Walter