La maladie de Fabry chez l'adulte: aspects cliniques et progrès thérapeutiques [Fabry disease in adulthood: clinical aspects and therapeutic progress].

INTRODUCTION: Fabry disease is an X-linked recessive abnormality of glycosphingolipid metabolism that is due to deficiency of the lysosomal enzyme alpha-galactosidase A. CURRENT KNOWLEDGE AND KEY POINTS: A majority of hemizygous men develop severe multisystemic disease (classic form), dominated by renal failure, progressive neurological and cardiac involvement. Nevertheless, some affected men retain sufficient enzyme activity and long remain asymptomatic (atypical form); their main manifestation is hypertrophic cardiomyopathy. Female heterozygous carriers are usually asymptomatic; 15% of them, however, have severe involvement of one or several organs. Laboratory, histologic and molecular diagnosis identifies 100% of hemizygous and over 80% of heterozygous subjects. FUTURE PROSPECTS AND PROJECTS: With developments in molecular genetics, it is now possible to produce the human recombinant enzyme alpha-galactosidase A. Two recent studies had proven that this therapeutic approach was able to be clinically and histologically effective in men. In addition, the results of a trial of gene therapy in a Fabry gene knocked-out mouse appear promising.

Modulation of Higher-Order Olfaction Components on Executive Functions in Humans.

The prefrontal (PFC) and orbitofrontal cortex (OFC) appear to be associated with both executive functions and olfaction. However, there is little data relating olfactory processing and executive functions in humans. The present study aimed at exploring the role of olfaction on executive functioning, making a distinction between primary and more cognitive aspects of olfaction. Three executive tasks of similar difficulty were used. One was used to assess hot executive functions (Iowa Gambling Task-IGT), and two as a measure of cold executive functioning (Stroop Colour and Word Test-SCWT and Wisconsin Card Sorting Test-WCST). Sixty two healthy participants were included: 31 with normosmia and 31 with hyposmia. Olfactory abilities were assessed using the ''Sniffin' Sticks'' test and the olfactory threshold, odour discrimination and odour identification measures were obtained. All participants were female, aged between 18 and 60. Results showed that participants with hyposmia displayed worse performance in decision making (IGT; Cohen's-d = 0.91) and cognitive flexibility (WCST; Cohen's-d between 0.54 and 0.68) compared to those with normosmia. Multiple regression adjusted by the covariates participants' age and education level showed a positive association between odour identification and the cognitive inhibition response (SCWT-interference; Beta = 0.29; p = .034). The odour discrimination capacity was not a predictor of the cognitive executive performance. Our results suggest that both hot and cold executive functions seem to be associated with higher-order olfactory functioning in humans. These results robustly support the hypothesis that olfaction and executive measures have a common neural substrate in PFC and OFC, and suggest that olfaction might be a reliable cognitive marker in psychiatric and neurologic disorders.

"Quitter le milieu" Une étude sociologique des processus de désaffiliation religieuse du milieu évangélique suisse

La thématique des désaffiliations religieuses du milieu évangélique est le parent pauvre des études faites jusqu'à ce jour sur ce courant religieux. En effet, l'accent est généralement mis sur son développement en termes d'affiliation faisant alors l'impasse sur les pertes qu'il connaît pourtant. De plus, la question des désaffiliations religieuses est un angle d'approche sociologique particulièrement fécond pour étudier les groupes religieux en permettant, entre autres, de cerner plus en profondeur leur identité, les mécanismes qui favorisent leur pérennisation, mais aussi leur rapport à la société environnante. Dans ce travail, qui s'inscrit en sociologie des religions et qui puise autant dans la littérature sur les désaffiliations religieuses que dans celle des désengagements militants, l'analyse s'est focalisée sur les processus de désengagement au niveau microsociologique : quels sont les motifs qui président les désaffiliations, comment se déroulent ces dernières, quels effets ont-elles sur l'individu en termes identitaires et comment sont-elles perçues par ceux qui restent ? Ces principales questions ont permis de (re] questionner des éléments constitutifs de l'engagement évangélique : les processus de socialisation ; la structuration des liens intragroupe développés par le milieu et son rapport à l'extérieur ; son système normatif; son système de représentation du monde et la démarche religieuse qu'il valorise, qui sont autant d'aspects qui jouent un rôle dans les processus de désaffiliation. Plus précisément, ces éléments agissent en tant que mécanismes de rétention tant sociaux que psychologiques compliquant ainsi le désengagement. Cette thèse s'est construite sur dix-sept entretiens semi directifs menés auprès de personnes ayant grandi pour la plupart dans une famille évangélique et qui ont décidé, un jour, de ne plus fréquenter ce milieu religieux. Pour élargir la perspective analytique et pour permettre de comprendre et d'expliquer les processus de désaffiliation en lien avec le groupe quitté, un ensemble de septante-huit entretiens semi directifs et de mille cent questionnaires standardisés de membres d'Eglises évangéliques a été mobilisé. Partant des logiques du désengagement, cette thèse affine les connaissances actuelles sur l'évangélisme dans le contexte de la modernité, grâce à l'éclairage inédit qu'elle lui donne. Elle développe également le champ des connaissances sur les désaffiliations religieuses en lui fournissant un nouvel exemple de cas tout en lui offrant une autre façon de théoriser les sorties de groupes religieux qui valorisent un engagement de type militant. - Religious disaffiliations from the evangelical milieu have not yet been investigated. Indeed, former studies have usually focused on the development of the milieu by looking at conversions. However, it appears that the study of the disaffiliation processes may not only give results on the reasons and experiences of those disaffiliating, but also shed light on the attributes and the development of the evangelical milieu itself. The main goal of this thesis was to fill this gap in the literature. From a microsociological approach, this thesis sought to answer the following central question : Why, how and with what effects do individuals leave the evangelical milieu and how is this phenomenon perceived, interpreted and managed by the individuals who leave the evangelical community and by the members of the evangelical milieu? These questions enabled me to investigate the functioning of the evangelical milieu : its processes of socialization ; internal and external relationships ; normative system ; belief system or its religious engagement. This set of aspects can influence and complicate the processes of disaffiliation. The analysis of religious disaffiliation was based on seventeen qualitative interviews with former members of evangelical chrurches who decided, one day, not to attend an evangelical church anymore and who question more or less strongly the « system of evangelical thought ». Seventy-eight qualitative interviews with members of evangelical free churches and a representative survey with members of evangelical free churches (N = 1100] completed the analysis and inserted the individual disengagement in the « milieu's logics ». This thesis complements and enriches the literature on evangelism as well as on religious disaffiliation in general.

The effect of recalled previous work environment on return to work after a rehabilitation program including vocational aspects for trauma patients.

INTRODUCTION: The aim of the present study was to assess the association between remembered previous work place environment and return to work (RTW) after hospitalisation in a rehabilitation hospital. METHODS: A cohort of 291 orthopedic trauma patients discharged from hospital between 15 December 2004 and 31 December 2005 was included in a study addressing quality of life and work-related questions. Remembered previous work environment was measured by Karasek's 31-item Job Content Questionnaire (JCQ), given to the patients during hospitalisation. Post-hospitalisation work status was assessed 3 months, 1, and 2 years after discharge, using a questionnaire sent to the ex-patients. Logistic regression models were used to test the role of four JCQ variables on RTW at each time point while controlling for relevant confounders. RESULTS: Subjects perceiving a higher physical demand were less likely to return to work 1 year after hospital discharge. Social support at work was positively associated with RTW at all time points. A high job strain appeared to be positively associated with RTW 1 year after rehabilitation, with limitations due to large confidence intervals. CONCLUSIONS: Perceptions of previous work environment may influence the probability of RTW. In a rehabilitation setting, efforts should be made to assess those perceptions and, if needed, interventions to modify them should be applied.

Behavioral aspects of investment fund's markets: are good managers lucky or skilled?

It is generally accepted that financial markets are efficient in the long run a lthough there may be some deviations in the short run. It is also accepted that a good portfolio manager is the one who beats the market persistently along time, this type of manager could not exist if markets were perfectly efficient According to this in a pure efficient market we should find that managers know that they can not beat the market so they would undertake only pure passive management strategies. Assuming a certain degree of inefficiency in the short run, a market may show some managers who tr y to beat the market by undertaking active strategies. From Fama’s efficient markets theory we can state that these active managers may beat the market occasionally although they will not be able to enhance significantly their performance in the long run. On the other hand, in an inefficient market it would be expected to find a higher level of activity related with the higher probability of beating the market. In this paper we follow two objectives: first, we set a basis to analyse the level of efficiency in an asset invest- ment funds market by measuring performance, strategies activity and it’s persistence for a certain group of funds during the period of study. Second, we analyse individual performance persistence in order to determine the existence of skilled managers. The CAPM model is taken as theoretical background and the use of the Sharpe’s ratio as a suitable performance measure in a limited information environment leads to a group performance measurement proposal. The empiri- cal study takes quarterly data from 1999-2007 period, for the whole population of the Spanish asset investment funds market, provided by the CNMV (Comisión Nacional del Mercado de Valores). This period of study has been chosen to ensure a wide enough range of efficient market observation so it would allow us to set a proper basis to compare with the following period. As a result we develop a model that allows us to measure efficiency in a given asset mutual funds market, based on the level of strategy’s activity undertaken by managers. We also observe persistence in individual performance for a certain group of funds

Vitamine D et maladie cardiovasculaire: aspects épidémiologiques. [Vitamin D and cardiovascular disease: epidemiological aspects].

The quasi-ubiquitous distribution of vitamin D receptors in the human tissues and the high prevalence of vitamin D deficiency worldwide have generated much enthusiasm about the opportunity of cardiovascular disease prevention through vitamin D supplementation. However, reported associations between vitamin D and cardiovascular disease present important limitations and are prone to confounding and reverse causation. Results from ongoing randomized clinical trials testing the efficacy of vitamin D supplementation to reduce cardiovascular events will not be available before year 2015. This article reviews the epidemiology of vitamin D and provides a brief overview on the relationship between vitamin D and cardiovascular disease.

Délire religieux treize ans après traumatisme crânien [Religious delusion 13 years after brain injury].

We report here with a case of religious delusion in a 39 years old woman. She had suffered a head injury with right temporal concussion 13 years before but had no earlier history of psychiatric disorder. In view of the fact that this acute psychiatric state lasted for a short duration of time and that personality and affects were preserved, this incident is compared to the schizophreniform disorder of the type DSM-III-R. The hypothesis of an acquired predisposition due to head injury has been put forward as an explanation.

Questioni di pulizia: rappresentazioni e valori

In the framework of social representation, this research explores how the concept of cleanness does not refer solely to individual hygienic praxes and thoughts, but it is also linked to social and cultural aspects. In this way, the definitions of what is dirty and what is clean, what is pure and what is impure, are linked to social discrimination attitudes, based for example on the fear for contamination. Our general hypothesis is that the representations of dirt/cleanness and purity/impurity define ideas and praxes linked to personal hygiene, but refer also to the way people interact with the world and the others. Hence, we hypothesize that the representations of dirt/cleanness and purity/impurity are linked to values and political and religious orientations. A questionnaire with closed-answer questions and a free association task were distributed to 450 subjects. Results show how, in effects, the concepts of dirt/cleanness, purity/ impurity skip from their daily praxis connotations and assume a symbolic function for discriminating between individuals and social groups.

Girona entre l'Islam i Carlemany: una ciutat de frontera (759-801)

Tradicionalment s'ha considerat l'ocupació de Girona pels francs (any 785) com el moment "fundacional" de la ciutat medieval, en paral·lel a la consideració que ha merescut l'època de Carlemany (final del segle VIII i principi del IX) com una època formativa en la història de Catalunya. Però tenim raons per pensar que aquells moments no significaren un gran terrabastall enuna ciutat que, des de començament del segle VIII, jugava un paper polític i militar significatiu en els esdeveniments de l'anomenada Marca Superior, el territori musulmà proper a les terres del regne franc. Més endavant, un cop incorporada a l'imperi carolingi, Girona mantingué la seva condició de ciutat capital de frontera o marca, fins a la conquesta de Barcelona l'any 801. Volem historiar, en la mesura del possible, aquesta etapa d'uns quaranta anys -entre 759 i 801- quan la ciutat visqué en primera línia i, també, protagonitzà les vicissituds de l'enfrontament entre dos dels grans estats d'aquell moment: la monarquia franca dels carolingis i l'emirat omeia A'al-Andalús. Els moviments d'anada i tomada dels seus exèrcits van situar Girona en primera línia de combat en aquells anys, fins a la definitiva consolidació del poder franc a principis del segle IX

Some aspects of the neuronal cytoskeleton in development.

The review is focused on developmental aspects of the neuronal cytoskeleton, its molecular composition and the intracellular distribution of its elements. It includes a survey of the molecular properties of several cytoskeletal proteins such as tubulins, microtubule-associated proteins, neurofilament subunits, actins and brain spectrins. Furthermore it is addressed how microtubules, neurofilaments, microfilaments and the spectrin-based membrane cytoskeleton are involved in the generation of the neuronal cytoarchitecture, and how changes in the molecular composition of the cytoskeleton during the differentiation process of a neuron may correlate with cell function.

Fractures dorsales du triquetrum : avulsion ou conflit ulno-carpien? Aspects IRM 3T et lésions associées.

Objectifs: Déterminer les caractéristiques en IRM 3T et discuter l'étiologie des fractures dorsales du triquetrum. Evaluer les lésions associées, notamment des ligamentsextrinsèques dorsaux.Matériels et méthodes: Etude rétrospective (septembre 2007 - décembre 2010) incluant 18 patients avec radiographies conventionnelles et IRM du poignet à 3T présentant une fracturedorsale du triquetrum. Protocole IRM comprenant une séquence T1-VIBE coronale haute résolution (0,3mm) isotropique avec suppression de graisse et aprèsinjection intraveineuse de Gadolinium. Lecture consensuelle par 2 radiologues évaluant les caractéristiques suivantes : taille et déplacement du fragment osseux,localisation de l'oedème médullaire, lésion des ligaments extrinsèques dorsaux (radio-triquetral, scapho-triquetral et ulno-triquetral), autres lésions associées.Inclusion d'un groupe contrôle de 20 patients, afin d'évaluer localisation et visibilité des enthèses ligamentaires extrinsèques dorsales .Résultats: Identification de 14 lésions ligamentaires scapho-triquetrales, 12 ulno-triquetrales et 8 radio-triquetrales, corrélées à la localisation de l'oedème osseux. Absenced'oedème de la styloïde ulnaire évocatrice de conflit. Volume moyen des fragments de 210 mm3, avec déplacement le plus fréquemment distal. Dans le groupecontrôle, visibilité des ligaments scapho-triquetral, radio-triquetral et ulno-triquetral dans respectivement 100% (20/20), 90% (18/20) et 70% (14/20) des cas.Conclusion: L'IRM 3T permet d'évaluer précisément les fractures dorsales du triquetrum et leurs lésions associées , y compris la distribution des oedèmes osseux. Cesfractures auraient donc une étiologie mixte.

Aspects financiers liés aux analyses ADN

La surveillance et la maîtrise des coûts liés aux analyses ADN sont très importants, surtout dans un contexte où les ressources financières ne sont pas illimitées. Des décisions quant à la priorisation des prélèvements à analyser s'imposent. La connaissance de l'aspect budgétaire est un des éléments qui peut aider à la prise de décision. Après un bref rappel des bases légales en matière d'analyses ADN en Suisse et de l'évolution législative de ces dernières années, l'article présente différents aspects financiers liés aux analyses ADN. De l'importance des sommes investies dans ces analyses et souvent méconnues dans leur globalité, même au sein des acteurs de la chaîne pénale, aux efforts faits pour optimiser les dépenses liées aux analyses ADN. Des actions sur différents facteurs qui portent sur la communication entre le laboratoire et le mandant des analyses, les changements dans le mode et les stratégies de prélèvements, ou l'utilisation de tests indicatifs moins chers qu'une analyse, nous ont permis d'optimiser nos dépenses pour obtenir plus de résultats positifs.