Zobrazeno 1 - 10
of 101
pro vyhledávání: '"Livia Lenzini"'
Autor:
Robin Knuchel, Zoran Erlic, Sven Gruber, Laurence Amar, Casper K. Larsen, Anne-Paule Gimenez-Roqueplo, Paolo Mulatero, Martina Tetti, Alessio Pecori, Christina Pamporaki, Katharina Langton, Mirko Peitzsch, Filippo Ceccato, Aleksander Prejbisz, Andrzej Januszewicz, Christian Adolf, Hanna Remde, Livia Lenzini, Michael Dennedy, Jaap Deinum, Emily Jefferson, Anne Blanchard, Maria-Christina Zennaro, Graeme Eisenhofer, Felix Beuschlein
Publikováno v:
Frontiers in Endocrinology, Vol 15 (2024)
IntroductionEndocrine hypertension (EHT) due to pheochromocytoma/paraganglioma (PPGL), Cushing’s syndrome (CS), or primary aldosteronism (PA) is linked to a variety of metabolic alterations and comorbidities. Accordingly, patients with EHT and prim
Externí odkaz:
https://doaj.org/article/7bc756e1d289446f9c414f5d8d35cf58
Autor:
Giovanni Pintus, Nicola Vitturi, Gianni Carraro, Livia Lenzini, Giorgia Gugelmo, Ilaria Fasan, Alberto Madinelli, Alberto Burlina, Angelo Avogaro, Lorenzo Arcangelo Calò
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 15, p 4304 (2024)
Background: Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and cereb
Externí odkaz:
https://doaj.org/article/21bd01e3f5474bef9138e375036d728f
Autor:
Edith Le Floch, Teresa Cosentino, Casper K. Larsen, Felix Beuschlein, Martin Reincke, Laurence Amar, Gian-Paolo Rossi, Kelly De Sousa, Stéphanie Baron, Sophie Chantalat, Benjamin Saintpierre, Livia Lenzini, Arthur Frouin, Isabelle Giscos-Douriez, Matthis Ferey, Alaa B. Abdellatif, Tchao Meatchi, Jean-Philippe Empana, Xavier Jouven, Christian Gieger, Melanie Waldenberger, Annette Peters, Daniele Cusi, Erika Salvi, Pierre Meneton, Mathilde Touvier, Mélanie Deschasaux, Nathalie Druesne-Pecollo, Sheerazed Boulkroun, Fabio L. Fernandes-Rosa, Jean-François Deleuze, Xavier Jeunemaitre, Maria-Christina Zennaro
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)
Detection of primary aldosteronism, the most common form of secondary arterial hypertension, is essential for targeted management and prevention of cardiovascular complications. Here, the authors identify genetic loci associated with primary aldoster
Externí odkaz:
https://doaj.org/article/b91ee0a8b0104613bac6c910d396b4b9
Autor:
Livia Lenzini, Elisabetta Iori, Monica Vettore, Giorgia Gugelmo, Claudia Radu, Andrea Padoan, Gianni Carraro, Paolo Simioni, Lorenzo Calò, Angelo Avogaro, Gian Paolo Rossi, Nicola Vitturi
Publikováno v:
Journal of Clinical Medicine, Vol 13, Iss 1, p 218 (2023)
Fabry disease (FD) is an X-linked lysosome storage disease that results in the accumulation of globotriaosylceramide (Gb3) throughout the body leading to irreversible target organ damage. As the role of secondary mediators (inflammatory molecules) an
Externí odkaz:
https://doaj.org/article/4e784599214e4d22bb1509edba329f96
Autor:
Nicola Vitturi, Livia Lenzini, Concetta Luisi, Miryam Carecchio, Giorgia Gugelmo, Francesco Francini‐Pesenti, Angelo Avogaro
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 48-51 (2021)
Abstract We report the case of a 22‐year‐old man with a diagnosis of dihydropteridine reductase (DHPR) deficiency who progressively developed movement disorders and epilepsy. Despite L‐Dopa supplementation the patient continued to show high pro
Externí odkaz:
https://doaj.org/article/63c13639999841ec97321e78fa369947
Autor:
Parminder S. Reel, Smarti Reel, Josie C. van Kralingen, Katharina Langton, Katharina Lang, Zoran Erlic, Casper K. Larsen, Laurence Amar, Christina Pamporaki, Paolo Mulatero, Anne Blanchard, Marek Kabat, Stacy Robertson, Scott M. MacKenzie, Angela E. Taylor, Mirko Peitzsch, Filippo Ceccato, Carla Scaroni, Martin Reincke, Matthias Kroiss, Michael C. Dennedy, Alessio Pecori, Silvia Monticone, Jaap Deinum, Gian Paolo Rossi, Livia Lenzini, John D. McClure, Thomas Nind, Alexandra Riddell, Anthony Stell, Christian Cole, Isabella Sudano, Cornelia Prehn, Jerzy Adamski, Anne-Paule Gimenez-Roqueplo, Guillaume Assié, Wiebke Arlt, Felix Beuschlein, Graeme Eisenhofer, Eleanor Davies, Maria-Christina Zennaro, Emily Jefferson
Publikováno v:
EBioMedicine, Vol 84, Iss , Pp 104276- (2022)
Summary: Background: Arterial hypertension is a major cardiovascular risk factor. Identification of secondary hypertension in its various forms is key to preventing and targeting treatment of cardiovascular complications. Simplified diagnostic tests
Externí odkaz:
https://doaj.org/article/f0147aafa7ad44e8bd8bcc90ee34721a
Publikováno v:
Exploration of Medicine, Vol 2, Iss 3, Pp 292-304 (2021)
The adrenal cortex plays a key role in the regulation of metabolism, salt and water homeostasis and sex differentiation by synthesizing glucocorticoid, mineralocorticoid and androgen hormones. Evidence exists that angiotensin II regulates adrenocorti
Externí odkaz:
https://doaj.org/article/e166363848514ea8bbfff450b1c90185
Publikováno v:
Blood Pressure, Vol 30, Iss 2, Pp 133-137 (2021)
Purpose Familial hyperaldosteronism type 1 (FH-1) is an autosomal dominant form of primary aldosteronism (PA), featuring a marked phenotypic heterogeneity, ranging from mild forms of PA and arterial hypertension (HT) to severe forms complicated by st
Externí odkaz:
https://doaj.org/article/dc8bb5b801334e39bb5533269d68df20
Autor:
Evelina Maines, Michele Moretti, Nicola Vitturi, Giorgia Gugelmo, Ilaria Fasan, Livia Lenzini, Giovanni Piccoli, Vincenza Gragnaniello, Arianna Maiorana, Massimo Soffiati, Alberto Burlina, Roberto Franceschi
Publikováno v:
Metabolites, Vol 13, Iss 4, p 563 (2023)
The guidelines for the management of patients affected by propionic acidemia (PA) recommend standard cardiac therapy in the presence of cardiac complications. A recent revision questioned the impact of high doses of coenzyme Q10 on cardiac function i
Externí odkaz:
https://doaj.org/article/294ed027d30740328fe80f5d8fe1fee5
Autor:
Giorgia Gugelmo, Nicola Vitturi, Francesco Francini-Pesenti, Ilaria Fasan, Livia Lenzini, Romina Valentini, Gianni Carraro, Angelo Avogaro, Paolo Spinella
Publikováno v:
Nutrients, Vol 15, Iss 3, p 658 (2023)
Fabry disease (FD) is an X-linked lysosomal disorder caused by α-galactosidase A enzyme deficiency. Gastrointestinal (GI) manifestations are reported in FD with a prevalence of about 50%, usually treated by Enzymatic Replacement Therapy (ERT) or ora
Externí odkaz:
https://doaj.org/article/91cde9bfae194e09bba5d6ea0e439a51