Variante Bética da Glucose-6-Fosfato-Desidrogenase: a Propósito de um Caso Clínico

O défice de Glucose-6-fosfato Desidrogenase (G6PD) é, provavelmente, a mutação clinicamente significativa mais frequente a nível mundial, sendo Portugal um país de baixa prevalência (cerca de 0,51%). A G6PD é o enzima que catalisa o primeiro passo na via das pentoses fosfato transformando a glicose- 6- fosfato em 6- fosfogluconato com redução do NADP a NADPH. Apesar de ser expressa em todos os tecidos, a sua deficiência apenas se faz sentir nos eritrocitos, levando a hemólise dos mesmos em situações de stress oxidativo. Já foram descritas mais de 400 variantes da G6PD. Os autores apresentam um caso de uma mulher portadora da variante Bética da G6PD, sendo a doença manifestada por favismo.

DU GRAIN À LA MUSIQUE : MANIPULATIONS EN TEMPS RÉEL

Dans cet article, nous présenterons une étude comparative de quelques techniques de manipulation du signal comme la Transformée de Fourier à Court Terme, la Synthèse Granulaire Asynchrone et PSOLA, notamment dans le cadre de leur utilisation en temps réel. Nous présenterons succinctement le fonctionnement de ces trois méthodes dans l’environnement Max / MSP avec l’utilisation de la librairie GABOR. La manipulation des paramètres propres à chaque méthode a des conséquences sur les variables musicales, et l’utilisation de ces méthodes implique des corrélations entre les paramètres techniques du traitement du signal et des attributs musicaux spécifiques. Ainsi, nous essayerons d’explorer les espaces des paramètres et de la perception musicales entre le temps, la période et le spectre (les rythmes, les fréquences et les timbres) en comparant les différentes méthodes en vue de leur croisement dans un système de traitement commun.

La fin (l’infini) du bruit

Á... Á propos d’Erosphère propos d’Érosphère, dans un entretien pour la Revue LIEN2 en 1992, François Bayle explique que le projet d’une Suite fut déclenché par la composition de la 1ère œuvre du cycle – Tremblement de terre très doux. Il y indique : « je me suis petit à petit aperçu, en réalisant cette pièce, que j’y traitais d’un problème inhérent à l’acous- matique : celui du désir, [...] c’est-à-dire des sons appétissants, des sons voluptueux, ce qui m’a entraîné vers un projet plus vaste que j’ai appelé Érosphère, cette loi de gravitation du désir. »3 Plus tard le compositeur déclare : « Au moment d’Érosphère mon projet portait sur les mécanismes du désir, l’érotisme sonore, d’où le titre d’Éros- phère. Découvrir les archétypes érotiques des formes sonores. »4 Dans les notes qui accompagnaient la première édition en disque, Bayle présente sa définition du mot Érosphère : Ce tissu nerveux qui enveloppe notre monde habité d’un réseau d’ondes modulées à une infinité de fréquences, ce nuage de chaleur infra et supra sensorielle que diffusent des mégas milliards d’ émetteurs biologiques, cet anneau où circule la force de ce cosmos, je l’appelle l’érosphère.

La notion d’Espace dans la création musicale : idées, concepts et attributions Une réflexion à propos d’espaces intentionnellement perçus ou composés de l’entité sonore

Notre étude présente une réflexion à propos de espaces musicaux composables. Cette réflexion inclue l’usage intentionnel des qualités sonores perçues dans la construction de sons et donc dans la composition musicale. Nos recherches se trouvent à l’intersection entre le son, comme phénomène physique qui se propage dans un espace, les sensations spatiales qui peuvent être engendrées par la perception auditive de ses certaines caractéristiques, et la pratique de la composition musicale d’espaces de sons dans les œuvres. Nous développons l’idée d’une entité sonore composable dès sa microstructure. Nous la concevons par analogie avec les objets du monde visible et palpable. Nous utilisons les idées de volume, forme et matière ainsi que celles de position et de mouvement des objets matériels, comme métaphore pour concevoir des entités sonores complexes et des espaces musicaux composés dans lesquels elles seront intégrées. Cette entité sonore constituée d’un ensemble d’éléments disparates, permet le développement de réseaux opératoires manipulables dans, la pratique, par les compositeurs.

Quelques réflexions sur les rapports entre l’électroacoustique et la musique instrumentale de Xenakis : le cas de la Légende d’Eer et Jonchaies

Dans cet article, nous mettrons en évidence le rapport étroit tissé par Xenakis entre les œuvres La légende d’Eer et Jonchaies notamment au niveau de la structure formelle et des sonorités. // In this paper, we will show some evident examples about the close rapports between La légende d’Eer and Jonchaies by Xenakis, especially in terms of formal structure and sonorities.

Regards croisés francophones et portugais : les images des Portugais dans la littérature romanesque contemporaine (1950-2000)

Tese de doutoramento em Línguas e Literaturas Românicas, Literatura Românica Comparada

Optical measurements of rat muscle samples under treatment with ethylene glycol and glucose

With the objective to study the variation of optical properties of rat muscle during optical clearing, we have performed a set of optical measurements from that kind of tissue. The measurements performed were total transmittance, collimated transmittance, specular reflectance and total reflectance. This set of measurements is sufficient to determine diffuse reflectance and absorbance of the sample, also necessary to estimate the optical properties. All the performed measurements and calculated quantities will be used later in inverse Monte Carlo (IMC) simulations to determine the evolution of the optical properties of muscle during treatments with ethylene glycol and glucose. The results obtained with the measurements already provide some information about the optical clearing treatments applied to the muscle and translate the mechanisms of turning the tissue more transparent and sequence of regimes of optical clearing.

The characteristic time of glucose diffusion measured for muscle tissue at optical clearing

The study of agent diffusion in biological tissues is very important to understand and characterize the optical clearing effects and mechanisms involved: tissue dehydration and refractive index matching. From measurements made to study the optical clearing, it is obvious that light scattering is reduced and that the optical properties of the tissue are controlled in the process. On the other hand, optical measurements do not allow direct determination of the diffusion properties of the agent in the tissue and some calculations are necessary to estimate those properties. This fact is imposed by the occurrence of two fluxes at optical clearing: water typically directed out of and agent directed into the tissue. When the water content in the immersion solution is approximately the same as the free water content of the tissue, a balance is established for water and the agent flux dominates. To prove this concept experimentally, we have measured the collimated transmittance of skeletal muscle samples under treatment with aqueous solutions containing different concentrations of glucose. After estimating the mean diffusion time values for each of the treatments we have represented those values as a function of glucose concentration in solution. Such a representation presents a maximum diffusion time for a water content in solution equal to the tissue free water content. Such a maximum represents the real diffusion time of glucose in the muscle and with this value we could calculate the corresponding diffusion coefficient.

Regulação integrada do metabolismo da glucose no estado pós-prandial : fisiologia e reversão de processos patológicos

Resumo: Os mecanismos que regulam a homeostase da glucose no pós-prandial são distintos dos mecanismos desencadeados em situações de jejum. Desta forma o fígado parece desempenhar um papel fundamental na acção periférica da insulina após a refeição através de um mecanismo que envolve os nervos parassimpáticos hepáticos e o óxido nítrico (NO). Esta dissertação procura evidenciar a importância de ambos na fi siologia de manutenção da glicémia pós-prandial e na fi siopatologia da resistência à insulina. Dos resultados obtidos observou-se que após a administração de uma refeição mista o perfi l glicémico foi distinto em animais com ou sem ablação dos nervos parassimpáticos hepáticos. A desnervação parassimpática hepática aumentou as excursões de glucose imediatamente após a refeição. Estas diferenças nas excursões de glucose dependentes do parassimpático ocorreram devido a uma diminuição da clearance de glucose, sem que fosse afectada a taxa de aparecimento de glucose no sangue, a produção endógena de glucose e secreção de insulina ou péptido-C. Este aumento das excursões de glucose revelou-se ser devida à diminuição da clearance de glucose pós-prandial exclusivamente no músculo-esquelético, coração e o rim. Concluiu-se que o fígado teria uma função endócrina nestes três órgãos. Surgiu assim a hipótese dos S-nitrosotiois (RSNOs) poderem mimetizar essa resposta endócrina. Testou-se o seu efeito in vivo na sensibilidade à insulina. Para níveis baixos de sensibilidade à insulina, como jejum, desnervação no estado pós-prandial e resistência à insulina os RSNOs potenciaram a sensibilidade à insulina para valores semelhantes ao pós-prandial indicando-os como potenciais fármacos no tratamento da resistência à insulina. O NO e seus derivados ganharam assim uma evidência cada vez maior na acção periférica da insulina e portanto fez-se uma caracterização dos seus níveis desde a fi siologia à fi siopatologia. Os resultados obtidos nesta dissertação permitiram correlacionar a sintetase de óxido nítrico (NOS), enzima responsável pela síntese de NO como um possível marcador da resistência à insulina. Os resultados obtidos contribuíram substancialmente para compreender os mecanismos fi siológicos e fi siopatológicos de manutenção da glicémia após a refeição, colocando o fígado como órgão primordial na regulação periférica (extra-hepática) da captação de glucose.-------- ABSTRACT: The mechanisms responsible for the postprandial response are different from the ones in the fasted state. Therefore the liver seems to play a fundamental role in postprandial insulin action through a mechanism that evolves the hepatic parasympathetic nerves (HPN) and nitric oxide (NO). This work focused on the importance of both, HPN and NO, on postprandial glycemic control and on the pathophysiology of insulin resistance. We observed that after administration of a mixed meal the glycemic profi les with or without the parasympathetic nerves were distinct, increasing glucose excursions after ablation of HPN.This increase in glucose excursions was due to a decrease on the rate of glucose disappearance in extra-hepatic tissues. Glucose appearance rate, endogenous glucose production and insulin secretion were not related to this mechanism. The increase on glucose excursions after the ablation of hepatic parasympathetic system was due to a decrease on glucose clearance on extra-hepatic tissues, namely skeletal-muscle, heart and kidney. We concluded that the liver has an endocrine function on those tissues increasing their glucose uptake.This mechanism led to propose the hypothesis that S-nitrosothiols (RSNOs) could mimic this mechanism. Therefore RSNOs effects on insulin sensitivity were tested. For low insulin sensitivity levels, i.e. fasted state, ablation of the HPN or insulin resistance state induced by a high sucrose diet RSNOs increased insulin sensitivity to levels normally observed in the postprandial state. These results indicated these drugs as potential pharmacological tools in the treatment of insulin resistance. NO and their derivates emerged as fundamental parts of insulin action. A characterization of nitric oxide and nitric oxide synthase (NOS), the enzyme responsible for NO synthesis was part of the work performed. We concluded that NO could be used as a biomarker for insulin resistance states. This work contributed for understanding the mechanism underlying postprandial glycemic control indicating the liver as a key organ in the regulation of peripheral (extra-hepatic) insulin action.