44 research outputs found

    Lafora Disease during a Seven-Year Period, Bosnian and Herzegovinian experience

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    Abstract:Lafora progressive myoclonus epilepsy (Lafora disease, LD) is a fatal autosomal recessive neurodegenerative disorder (with an onset in teenage years in previously normal adolescents). This paper represents a view of a patient diagnosed with Lafora progressive myoclonus epilepsy, over a course of seven years. A description of the initial manifestation of symptoms, doctors' attempts to combat the symptoms with drug treatment, further attempts towards reaching the correct diagnosis, the final confirmation of the Lafora diagnosis (mutation in the NHLRC1 gene), and the current state of the patient is presented. The absence of a positive family history, the lack of staff specialized in dealing with this or similar pathology, and the diagnostic inability to characterize this type of disorder in Bosnia and Herzegovina have led to a fair delay in diagnosing and beginning of an adequate pharmacological treatment. Overall, recent identification of LD cases in Bosnia and Herzegovina warrants an establishment of a Centre for Genetic Testing in order to ensure more humane counseling of an entire family whose family member(s) might be diagnosed with this devastating and currently an incurable disorder.Keywords: Progressive myoclonus epilepsy; Lafora disease; NHLRC1 mutatio

    Risk to human health related to the presence of perfluoroalkyl substances in food

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    Acknowledgements: The Panel wishes to thank the following for their support provided to this scientific output as Hearing experts: Klaus Abraham, Esben Budtz-Jørgensen, Tony Fletcher, Philippe Grandjean, Hans Mielke and Hans Rumke and EFSA staff members: Davide Arcella, Marco Binaglia, Petra Gergelova, Elena Rovesti and Marijke Schutte. The Panel wishes to acknowledge all European competent institutions, Member State bodies and other organisations that provided data for this scientific output. The Panel would also like to thank the following authors and co-authors for providing additional information in relation to their respective studies: Berit Granum, Margie M Peden-Adams, Thomas Webster.Peer reviewedPublisher PD

    La gestion des aires critiques : le delta du Danube entre isolement et réserve

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    The establishment of a biosphere reserve in the Danube Delta has complicated the fragile relationship between man and the environment. The delta area, structured by activities linked to water, was disrupted by development that had little regard for the environment (1960-1989). The introduction of environmental management in 1991 (scientific objectives, sustainable economic development, monitoring and conservation) has limited the environmental damage, but multiplied the constraints on human life.La création d’une réserve de la biosphère dans le delta du Danube a compliqué les rapports fragiles homme-environnement. L''espace du delta, structuré par les activités liées à l’eau, avait été bouleversé par des aménagements peu respectueux de l’environnement (1960-1989). La mise en place d’une administration écologiste en 1991 (objectifs scientifiques, valorisation dans la logique du développement durable, actions de contrôle et de protection) a limité l’ampleur des dégâts de l’environnement, mais a multiplié les contraintes pour la vie humaine.La creación de una reserva de biosfera en el delta del Danubio ha complicado las relaciones hombre-medio ambiente. El espacio deltaico, estructurado por las actividades ligadas al agua, ha sido muy afectado por manejos poco respetuosos del medio ambiente (1960-1989). La creación de una administración ecologista en 1991 (objetivos científicos, valorización dentro de la lógica de un desarrollo sostenible, actividades de control y de protección) disminuyo la cobertura de las destrucciones del medio ambiente, pero se multiplicaron las dificultades para la vida humana.Dobraca Lucian. La gestion des aires critiques : le delta du Danube entre isolement et réserve. In: Mappemonde 53, 1999/1. pp. 15-19

    A new approach to the dynamic security assessment of power systems including relay performance

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    In this thesis, security assessment of a power system under large disturbances has been studied. A protective system (relays) has been included in the power system model and a new measure that quantitatively describes the dynamic reponse of the system together with a procedure to identify the set of vulnerable relays have been presented. Next, the algorithm for fast approximation of the system response under large disturbances has been proposed. The impact of the presence of the fast and slow dynamics has been addressed from a computational point of view. Finally, the sensitivity theory has been used to establish the scheme for preventive action.U of I OnlyETDs are only available to UIUC Users without author permissio

    A novel approach to the protection problem of a power system

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    Typescript.Thesis (M.S.)--University of Illinois at Urbana-Champaign, 1986.Bibliography: leaves 70-73.U of I OnlyUIUC only access ETD

    Relay margins as a tool for dynamical security analysis

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    A new measure that quantitatively describes the dynamical response of a power system under large disturbances is proposed in this paper. The measure is named relay margin/relay space margin. The intention is to find a set of indicators which are well understood and informative enough for use in a power system control centre environment for dynamic security assessment (DSA). The protective system is included in the mathematical model of the power system. Current methods for DSA proposed in the literature ignore discrete devices such as the relays. It is the practice to update relay settings occasionally, depending on planned changes in the power system structure (new source, new load, new line, periodic checking). Thus the current operating state of the power system can be significantly different from the one for which the relay security are selected. The necessity for inclusion of relay models is illustrated by an example. For the dynamic security assessment of the power system it is not necessary to include all the relays present in the system. A set of relays which may trip for a given contingency can be isolated. This set is named the set of vulnerable relays and a procedure to identify them is proposed. The 10-machine, 39-bus system and 3-machine, 9-bus system are used to illustrate the basic idea of this work

    A new trajectory approximation technique for transient stability studies

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    In many studies involving dynamic models of power systems, fast simulation is needed such as in using direct methods of stability analysis where a number of contingencies have to be simulated in a very short time. In this paper we propose a method which uses piecewise linearization of the nonlinearities combined with trapezoidal integration of the differential equation to approximate the trajectory of a multimachine system with classical model representation. The technique is illustrated for faults on a 3- and 10-machine system and the computational savings are discussed with respect to a fourth-order Runge-Kutta method
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