Zobrazeno 1 - 10
of 308
pro vyhledávání: '"Georges Deschênes"'
Autor:
Elisabeth L. Metry, Sander F. Garrelfs, Hessel Peters-Sengers, Sally-Anne Hulton, Cecile Acquaviva, Justine Bacchetta, Bodo B. Beck, Laure Collard, Georges Deschênes, Casper Franssen, Markus J. Kemper, Graham W. Lipkin, Giorgia Mandrile, Nilufar Mohebbi, Shabbir H. Moochhala, Michiel J.S. Oosterveld, Larisa Prikhodina, Bernd Hoppe, Pierre Cochat, Jaap W. Groothoff
Publikováno v:
Kidney International Reports, Vol 7, Iss 2, Pp 210-220 (2022)
Introduction: In primary hyperoxaluria type 1 (PH1), oxalate overproduction frequently causes kidney stones, nephrocalcinosis, and kidney failure. As PH1 is caused by a congenital liver enzyme defect, combined liver–kidney transplantation (CLKT) ha
Externí odkaz:
https://doaj.org/article/b741147b79de4dfb83077c53198d2dea
Autor:
Aurore Curie, Nathalie Touil, Ségolène Gaillard, Damien Galanaud, Nicolas Leboucq, Georges Deschênes, Denis Morin, Fanny Abad, Jacques Luauté, Eurielle Bodenan, Laurent Roche, Cécile Acquaviva, Christine Vianey-Saban, Pierre Cochat, François Cotton, Aurélia Bertholet-Thomas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-22 (2020)
Abstract Background Cystinosis is a rare autosomal recessive disorder caused by intracellular cystine accumulation. Proximal tubulopathy (Fanconi syndrome) is one of the first signs, leading to end-stage renal disease between the age of 12 and 16. Ot
Externí odkaz:
https://doaj.org/article/4287d4cdb907460991ff2be76b3900d8
Autor:
Marc Fila, Ali Sassi, Gaëlle Brideau, Lydie Cheval, Luciana Morla, Pascal Houillier, Christine Walter, Michel Gennaoui, Laure Collignon, Mathilde Keck, Gabrielle Planelles, Naziha Bakouh, Michel Peuchmaur, Georges Deschênes, Ignacio Anegon, Séverine Remy, Bruno Vogt, Gilles Crambert, Alain Doucet
Publikováno v:
JCI Insight, Vol 6, Iss 15 (2021)
Idiopathic nephrotic syndrome (INS) is characterized by proteinuria and renal sodium retention leading to edema. This sodium retention is usually attributed to epithelial sodium channel (ENaC) activation after plasma aldosterone increase. However, mo
Externí odkaz:
https://doaj.org/article/296a37924c9443c184d2bc0608767eb6
Autor:
Adrien Guillaume, Benedetta Chiodini, Brigitte Adams, Karin Dahan, Georges Deschênes, Khalid Ismaili
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Introduction: Oxalate overproduction in Primary Hyperoxaluria type I (PH1) leads to progressive renal failure and systemic oxalate deposition. In severe infantile forms of PH1 (IPH1), end-stage renal disease (ESRD) occurs in the first years of life.
Externí odkaz:
https://doaj.org/article/eaef4bddf3244e77bb992a867e8a08ea
Autor:
Djamal Djeddi, Julien Hogan, Aubriana Perez, Anne-Laure Sellier-Leclerc, Isabelle Vrillon, Francoise Broux, Francois Nobili, Jerome Harambat, Lucie Bessenay, V Audard, Camille Faudeux, Denis Morin, Christine Pietrement, Stephanie Tellier, Philippe Eckart, Annie Lahoche, G Roussey-Kesler, Tim Ulinski, Olivia Boyer, Emmanuelle Plaisier, Sylvie Cloarec, Anne Jolivot, Vincent Guigonis, Sophie Guilmin-Crepon, Veronique Baudouin, Claire Dossier, Georges Deschênes
Publikováno v:
BMJ Open, Vol 10, Iss 9 (2020)
Introduction Guidelines for the treatment of steroid-dependent nephrotic syndrome (SDNS) and frequently relapsing nephrotic syndrome (FRNS) are lacking. Given the substantial impact of SDNS/FRNS on quality of life, strategies aiming to provide long-t
Externí odkaz:
https://doaj.org/article/76578aec60b04d49a318ba77bf7b3fdb
Autor:
Xavier Torterüe, Laurène Dehoux, Marie-Alice Macher, Olivier Niel, Thérésa Kwon, Georges Deschênes, Julien Hogan
Publikováno v:
BMC Nephrology, Vol 18, Iss 1, Pp 1-7 (2017)
Abstract Background Evaluation of patient’s dry weight remains challenging in chronic hemodialysis (HD) especially in children. Inferior Vena Cava (IVC) measurement was reported useful to assess fluid overload both in adults and children. Methods W
Externí odkaz:
https://doaj.org/article/9eeffdc0e9114a72aaff0aa4f5c5a3e4
Autor:
Aurélia Bertholet-Thomas, Julien Berthiller, Velibor Tasic, Behrouz Kassai, Hasan Otukesh, Marcella Greco, Jochen Ehrich, Rejane de Paula Bernardes, Georges Deschênes, Sally-Ann Hulton, Michel Fischbach, Kenza Soulami, Bassam Saeed, Ehsan Valavi, Carlos Jose Cobenas, Bülent Hacihamdioglu, Gabrielle Weiler, Pierre Cochat, Justine Bacchetta
Publikováno v:
BMC Nephrology, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Nephropathic cystinosis is a rare inherited metabolic disorder leading to progressive renal failure and extra-renal comorbidity. The prognosis relies on early adherence to cysteamine treatment and symptomatic therapies. Developing
Externí odkaz:
https://doaj.org/article/8afe598531644acda5ce03c2356080dc
Autor:
Akram Kaddour, Bruno Colicchio, Diane Buron, Elie El Maalouf, Eric Laplagne, Claire Borie, Michelle Ricoul, Aude Lenain, William M. Hempel, Luc Morat, Mustafa Al Jawhari, Corina Cuceu, Leonhard Heidingsfelder, Eric Jeandidier, Georges Deschênes, Alain Dieterlen, Michèle El May, Theodore Girinsky, Annelise Bennaceur-Griscelli, Patrice Carde, Laure Sabatier, Radhia M’kacher
Publikováno v:
Scientific Reports, Vol 7, Iss 1, Pp 1-11 (2017)
Abstract The mechanisms behind the transmission of chromosomal aberrations (CA) remain unclear, despite a large body of work and major technological advances in chromosome identification. We reevaluated the transmission of CA to second- and third-div
Externí odkaz:
https://doaj.org/article/4d919127e5124bc98a5cd9b87f10782d
Publikováno v:
BMC Nephrology, Vol 18, Iss 1, Pp 1-4 (2017)
Abstract Background Propionic acidemia (PA) is a rare but severe recessive autosomal disease, presenting with non specific signs in the first years of life. Prenatal diagnosis is invasive (amniocentesis) and limited to suspect cases. No screening tes
Externí odkaz:
https://doaj.org/article/c65593b619d04e9b96fc6568f408d79f
Autor:
Aurore Berthe-Aucejo, Mathieu Sacquépée, Marc Fila, Michel Peuchmaur, Emilia Perrier-Cornet, Véronique Frémeaux-Bacchi, Georges Deschênes
Publikováno v:
Case Reports in Nephrology, Vol 2014 (2014)
A patient aged 17 with dense deposit disease associated with complement activation, circulating C3 Nef, and Factor H mutation presented with nephrotic syndrome and hypertension. Steroid therapy, plasma exchange, and rituximab failed to improve protei
Externí odkaz:
https://doaj.org/article/e0bd678c202445d2bb60f003f2c337f7