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867 results on '"Niaudet, P."'

2. Excessive vascular sprouting underlies cerebral hemorrhage in mice lacking αVβ8-TGFβ signaling in the brain

Author

Arnold, Thomas D, Niaudet, Colin, Pang, Mei-Fong, Siegenthaler, Julie, Gaengel, Konstantin, Jung, Bongnam, Ferrero, Gina M, Mukouyama, Yoh-suke, Fuxe, Jonas, Akhurst, Rosemary, Betsholtz, Christer, Sheppard, Dean, and Reichardt, Louis F

Subjects
Medical Physiology, Biomedical and Clinical Sciences, Neurosciences, Cerebrovascular, Brain Disorders, 2.1 Biological and endogenous factors, Cardiovascular, Analysis of Variance, Animals, Blood-Brain Barrier, Brain, Cell Count, Cerebral Hemorrhage, Endothelial Cells, Immunohistochemistry, Integrins, Mice, Microscopy, Confocal, Neovascularization, Pathologic, Signal Transduction, Transforming Growth Factor beta, Angiogenesis, CNS, Hemorrhage, Sprouting, Integrin alpha V beta 8, TGF beta, Mouse, Integrin αVβ8, TGFβ, Biological Sciences, Medical and Health Sciences, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Vascular development of the central nervous system and blood-brain barrier (BBB) induction are closely linked processes. The role of factors that promote endothelial sprouting and vascular leak, such as vascular endothelial growth factor A, are well described, but the factors that suppress angiogenic sprouting and their impact on the BBB are poorly understood. Here, we show that integrin αVβ8 activates angiosuppressive TGFβ gradients in the brain, which inhibit endothelial cell sprouting. Loss of αVβ8 in the brain or downstream TGFβ1-TGFBR2-ALK5-Smad3 signaling in endothelial cells increases vascular sprouting, branching and proliferation, leading to vascular dysplasia and hemorrhage. Importantly, BBB function in Itgb8 mutants is intact during early stages of vascular dysgenesis before hemorrhage. By contrast, Pdgfb(ret/ret) mice, which exhibit severe BBB disruption and vascular leak due to pericyte deficiency, have comparatively normal vascular morphogenesis and do not exhibit brain hemorrhage. Our data therefore suggest that abnormal vascular sprouting and patterning, not BBB dysfunction, underlie developmental cerebral hemorrhage.

Published
2014

3. Nephropathic cystinosis: an international consensus document

Author

Emma, Francesco, Nesterova, Galina, Langman, Craig, Labbé, Antoine, Cherqui, Stephanie, Goodyer, Paul, Janssen, Mirian C, Greco, Marcella, Topaloglu, Rezan, Elenberg, Ewa, Dohil, Ranjan, Trauner, Doris, Antignac, Corinne, Cochat, Pierre, Kaskel, Frederick, Servais, Aude, Wühl, Elke, Niaudet, Patrick, Hoff, William Van't, Gahl, William, and Levtchenko, Elena

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Kidney Disease, Rare Diseases, Pediatric, Child, Cystinosis, Fanconi Syndrome, Humans, Practice Guidelines as Topic, Societies, Medical, CTNS gene, cysteamine treatment, cystinosis, extra-renal complications, renal Fanconi syndrome, Urology & Nephrology, Clinical sciences
Abstract

Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It is the most common cause of inherited renal Fanconi syndrome in young children. Because of its rarity, the diagnosis and specific treatment of cystinosis are frequently delayed, which has a significant impact on the overall prognosis. In this document, we have summarized expert opinions on several aspects of the disease to improve knowledge and provide guidance for diagnosis and treatment.

Published
2014

4. Estimating Time to ESRD in Children With CKD

Author

Samuels, Joshua, Furth, Susan, Atkinson, Meredith, Wilson, Amy, Quiroga, Alejandro, Massengill, Susan, Selewski, Dave, Ferris, Maria, Kogon, Amy, Kaskel, Frederick, Lande, Marc, Schwartz, George, Saland, Jeffrey, Norwood, Victoria, Matoo, Tej, Hidalgo, Guillermo, Srivaths, Poyyapakkam, Carlson, Joann, Langman, Craig, Mendley, Susan, John, Eunice, Upadhyay, Kiran, Seo-Mayer, Patricia, Patterson, Larry, Parekh, Rulan, Robinson, Lisa, Weinstein, Adam, Samsonov, Dmitry, Kupferman, Juan, Misurac, Jason, Mongia, Anil, Kiessling, Steffan, Sanchez-Kazi, Cheryl, Dart, Allison, Fathallah, Sahar, Claes, Donna, Mitsnefes, Mark, Blydt-Hansen, Tom, Warady, Bradley, Greenbaum, Larry, Flynn, Joseph, Wong, Craig, Salusky, Isidro, Yadin, Ora, Dell, Katherine, Jenkins, Randall, Pan, Cynthia, Ku, Elaine, Al-Uzri, Amira, Rodig, Nancy, Wong, Cynthia, Davis, Keefe, Turman, Martin, Bartosh, Sharon, Hastings, Colleen, Nayak, Anjali, Seikaly, Mouin, Benador, Nadine, Mak, Robert, Wood, Ellen, Lerner, Gary, Barletta, Gina Marie, Anarat, A., Bakkaloglu, A., Ozaltin, F., Peco-Antic, A., Querfeld, U., Gellermann, J., Sallay, P., Drożdż, D., Bonzel, K.-E., Wingen, A.-M., Żurowska, A., Balasz, I., Trivelli, A., Perfumo, F., Müller-Wiefel, D.E., Möller, K., Offner, G., Enke, B., Wühl, E., Hadtstein, C., Mehls, O., Schaefer, F., Emre, S., Caliskan, S., Mir, S., Wygoda, S., Hohbach-Hohenfellner, K., Jeck, N., Klaus, G., Ardissino, G., Testa, S., Montini, G., Charbit, M., Niaudet, P., Caldas-Afonso, A., Fernandes-Teixeira, A., Dušek, J., Matteucci, M.C., Picca, S., Mastrostefano, A., Wigger, M., Berg, U.B., Celsi, G., Fischbach, M., Terzic, J., Fydryk, J., Urasinski, T., Coppo, R., Peruzzi, L., Arbeiter, K., Jankauskiené, A., Grenda, R., Litwin, M., Janas, R., Neuhaus, T.J., Furth, Susan L., Pierce, Chris, Hui, Wun Fung, White, Colin A., Wong, Craig S., Schaefer, Franz, Wühl, Elke, Abraham, Alison G., and Warady, Bradley A.

Published
2018
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6. Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort study.

Author

Veys, K., Zadora, W., Hohenfellner, K., Bockenhauer, D., Janssen, M.C.H., Niaudet, P., Servais, A., Topaloglu, R., Besouw, M., Novo, R., Haffner, D., Kanzelmeyer, N., Pape, L., Wühl, E., Harms, E., Awan, A., Sikora, P., Ariceta, G., Heuvel, B. van den, Levtchenko, E.N., Veys, K., Zadora, W., Hohenfellner, K., Bockenhauer, D., Janssen, M.C.H., Niaudet, P., Servais, A., Topaloglu, R., Besouw, M., Novo, R., Haffner, D., Kanzelmeyer, N., Pape, L., Wühl, E., Harms, E., Awan, A., Sikora, P., Ariceta, G., Heuvel, B. van den, and Levtchenko, E.N.

Abstract

01 januari 2023, Item does not contain fulltext, Infantile nephropathic cystinosis (INC) is an inheritable lysosomal storage disorder characterized by lysosomal cystine accumulation, progressive kidney disease, and multiple extrarenal complications (ERCs). Cysteamine postpones the onset of end-stage kidney disease (ESKD) and reduces the incidence of ERCs; however, cysteamine is generally initiated upon establishment of the renal Fanconi syndrome (FS) and partial loss of kidney function, whereas data on long-term effects of cysteamine administered from neonatal age are lacking. An international multicenter retrospective cohort study of siblings with INC was set up to investigate the outcome in relation to age at initiation of cysteamine versus CTNS genotype, with attention to patients treated with cysteamine from neonatal age. None of the siblings treated from neonatal age (n = 9; age 10 ± 6 years) had reached ESKD, while 22% of their index counterparts (n = 9; age 14 ± 5 years) had commenced renal replacement therapy. Siblings treated with cysteamine from the onset of symptoms at a younger age compared with their index counterparts, reached ESKD at a significant older age (13 ± 3 vs. 10 ± 3 years, p = 0.002). In contrast, no significant difference in ERCs was observed between sibling and index patients, independently from the age at initiation of cysteamine. The CTNS genotype had no impact on the overall outcome in this cohort. In INC, presymptomatic treatment with cysteamine results in a better renal outcome in comparison to treatment initiated from the onset of symptoms. This justifies including cystinosis into newborn screening programs. SYNOPSIS: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome which justifies the inclusion of cystinosis into newborn screening programs.

Published
2023

7. Clinical and genetic heterogeneity in familial steroid-sensitive nephrotic syndrome

Author

Dorval, Guillaume, Gribouval, Olivier, Martinez-Barquero, Vanesa, Machuca, Eduardo, Tête, Marie-Josèphe, Baudouin, Véronique, Benoit, Stéphane, Chabchoub, Imen, Champion, Gérard, Chauveau, Dominique, Chehade, Hassib, Chouchane, Chokri, Cloarec, Sylvie, Cochat, Pierre, Dahan, Karin, Dantal, Jacques, Delmas, Yahsou, Deschênes, Georges, Dolhem, Phillippe, Durand, Dominique, Ekinci, Zelal, El Karoui, Khalil, Fischbach, Michel, Grunfeld, Jean-Pierre, Guigonis, Vincent, Hachicha, Mongia, Hogan, Julien, Hourmant, Maryvonne, Hummel, Aurélie, Kamar, Nassim, Krummel, Thierry, Lacombe, Didier, Llanas, Brigitte, Mesnard, Laurent, Mohsin, Nabil, Niaudet, Patrick, Nivet, Hubert, Parvex, Paloma, Pietrement, Christine, de Pontual, Loic, Noble, Claire Pouteil, Ribes, David, Ronco, Pierre, Rondeau, Eric, Sallee, Marion, Tsimaratos, Michel, Ulinski, Tim, Salomon, Rémi, Antignac, Corinne, and Boyer, Olivia

Published
2017
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11. Background

Author

Meyrier, A., Niaudet, P., Brodehl, J., Meyrier, A., Niaudet, P., and Brodehl, J.

Published
1992
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37. Respiratory chain deficiency presenting as congenital nephrotic syndrome

Author

Goldenberg, Alice, Ngoc, Linh Huynh, Thouret, Marie-Christine, Cormier-Daire, Valérie, Gagnadoux, Marie-France, Chrétien, Dominique, Lefrançois, Catherine, Geromel, Vanna, Rötig, Agnès, Rustin, Pierre, Munnich, Arnold, Paquis, Véronique, Antignac, Corinne, Gubler, Marie-Claire, Niaudet, Patrick, de Lonlay, Pascale, and Bérard, Etienne

Published
2005
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41. Hemolytic-Uremic Syndrome in Children

Author

Boyer, Olivia and Niaudet, Patrick

Abstract

Hemolytic uremic syndrome is characterized by a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. Most cases are caused by Shiga-toxin-producing bacteria, especially Escherichia coli. Transmission occurs through ground beef and unpasteurized milk. STEC-HUS is the main cause of acute renal failure in children. Management remains supportive. Immediate outcome is most often. Atypical HUS represents about 5% of cases, has a relapsing course with more than half of the patients progressing to end-stage kidney failure. Most cases are due to variants in complement regulators of the alternative pathway. Complement inhibitors, such as eculizumab, have considerably improved the prognosis.

Published
2022
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