109 research outputs found
Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I.
No full textpeer reviewedSaal S, Faivre L, Aral B, Gigot N, Toutain A, Van Maldergem L, Destree A, Maystadt I, Cosyns J-P, Jouk P-S, Loeys B, Chauveau D, Bieth E, Layet V, Mathieu M, Lespinasse J, Teebi A, Franco B, Gautier E, Binquet C, Masurel-Paulet A, Mousson C, Gouyon J-B, Huet F, Thauvin-Robinet C. Renal insufficiency, a frequent complication with age in oral-facial-digital syndrome type I. The oral-facial-digital syndrome type I (OFD I) is characterized by multiple congenital malformations of the face, oral cavity and digits. A polycystic kidney disease (PKD) is found in about one-third of patients but long-term outcome and complications are not well described in the international literature. Renal findings have been retrospectively collected in a cohort of 34 females all carrying a pathogenic mutation in the OFD1 gene with ages ranging from 1 to 65 years. Twelve patients presented with PKD - 11/16 (69%) if only adults were considered -with a median age at diagnosis of 29 years [IQR (interquartile range) = (23.5-38)]. Among them, 10 also presented with renal impairment and 6 were grafted (median age = 38 years [IQR = (25-48)]. One grafted patient under immunosuppressive treatment died from a tumor originated from a native kidney. The probability to develop renal failure was estimated to be more than 50% after the age of 36 years. Besides, neither genotype-phenotype correlation nor clinical predictive association with renal failure could be evidenced. These data reveal an unsuspected high incidence rate of the renal impairment outcome in OFD I syndrome. A systematic ultrasound (US) and renal function follow-up is therefore highly recommended for all OFD I patients
Colette, Lettere a Missy
No full textL’edizione della corrispondenza tra Colette e la marchesa de Morny (Missy), oltre a rivelare la natura complessa del rapporto amoroso tra le due donne, riferisce di un periodo importante per l’esistenza e la produzione letteraria dell’autrice. È stato in primis grazie all’impegno e alla passione di un collezionista, che queste lettere sono sfuggite all’oblio. Nel 1953, su consiglio di Sacha Guitry, Michel Rémy-Bieth inizia a raccogliere una collezione di autografi. Egli acquista una decina di..
Colette, Lettere a Missy
No full textL’edizione della corrispondenza tra Colette e la marchesa de Morny (Missy), oltre a rivelare la natura complessa del rapporto amoroso tra le due donne, riferisce di un periodo importante per l’esistenza e la produzione letteraria dell’autrice. È stato in primis grazie all’impegno e alla passione di un collezionista, che queste lettere sono sfuggite all’oblio. Nel 1953, su consiglio di Sacha Guitry, Michel Rémy-Bieth inizia a raccogliere una collezione di autografi. Egli acquista una decina di..
Developing fast and accurate parallel solver for multi-scales biochemical reacting systems
No full textApplication of mathematical models to real problems from the biological or medical arenas poses challenges in both the modeling and in the computation needed to get predictions from the model that has been formulated, especially if the problem is inherently multi-scaled. Those real-world applications involve situations where different physical phenomena acting on very different time scales occur simultaneously. The ordinary differential equations (ODEs) governing such situations are categorized as stiff ODEs. Stiffness is a challenging property of differential equations (DEs) that prevents conventional explicit numerical integrators from handling a problem efficiently. For such cases, stability (rather than accuracy) requirements dictate the choice of time step size to be very small. Considerable effort in coping with stiffness has gone into developing time-discretization methods to overcome many of the constraints of the conventional methods. Recently, there has been a renewed interest in exponential integrators that have emerged as a viable alternative for dealing effectively with stiffness of ODEs. Our attention has been focused on a drug based model governed by a system of stiff ODEs within the framework of an innovative drug-drug interaction method based on a three-level Bayesian meta-analysis model including Monte Carlo Markov Chain (MCMC) pharmacokinetic parameter estimation procedure. Underlying the parameter estimation procedure is a need for a fast integration method of the stiff pharmacokinetic equations. This thesis represents our effort to gain insight into the nature of the pharmacokinetic equations and their speedy and accurate integration. The first aspect of this study involves the development of an integration method that converts a system of differential equation into a system of Volterra integral equations using a quasilinearization step and incorporating initial conditions into the equations. Then we employ either a multi-stage linear interpolation or its combination with successive approximation method to find the solution to the Volterra integral equations. No polynomial interpolant is used in the development of the integration scheme and computation results show an improvement over existing methods for stiff-equations
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