Results 91 to 100 of about 5,436 (204)

Patient journey in cystinosis: focus on non-adherence and disease management

Drugs in Context
Background: Few studies have assessed patient-reported experience measures in nephropathic cystinosis. This study uses patient reports focused on the impact of cystinosis, cysteamine treatment-associated problems, and therapeutic adherence and suggests ...
Gema Ariceta, Simón Lalanza, Catalina Peña, Marta Martínez Montero, Carlos Bezos Daleske, Laura Acuña Álvarez, Elisa Giner   +6 more
doaj   +1 more source

Mutational spectrum of cystinosis in Portugal, 1998-2017 [PDF]

, 2019
Artigo original publicado em inglês: Ferreira F, Leal I, Sousa D, et al. CTNS Molecular Genetics Profile in a Portuguese Cystinosis Population. Open J Genet. 2018 Dec 18;8(4):91-100.
Carmona, Célia, Costa, Teresa, Ferreira, Filipa, Gomes, Ana Marta, Leal, Inês, Lopes, Daniela, Macário, Maria do Carmo, Magriço, Rita, Marcão, Ana, Mota, Conceição, Neiva, Raquel,, Oliveira, João Paulo, Pinto, Helena, Ramos, Sónia, Sousa, David, Tavares, Isabel, Vilarinho, Laura   +16 more
core  

Multisystem involvement, defective lysosomes and impaired autophagy in a novel rat model of nephropathic cystinosis

Human Molecular Genetics, 2022
Recessive mutations in the CTNS gene encoding the lysosomal transporter cystinosin cause cystinosis, a lysosomal storage disease leading to kidney failure and multisystem manifestations.
Patrick Krohn, L. Rega, Marianne Harvent, Beatrice Paola Festa, A. Taranta, A. Luciani, J. Dewulf, Alessio Cremonesi, F. Camassei, J. Hanson, C. Gerth-Kahlert, F. Emma, Marine Berquez, O. Devuyst   +13 more
semanticscholar   +1 more source

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report

JIMD Reports, Volume 66, Issue 1, January 2025.
ABSTRACT Many inherited metabolic disorders (IMD) are associated with end‐organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates.
Raeda Taj, Kim Ng, Sanmati R. Cuddapah, Elizabeth B. Rand, Melissa Bleicher, Sandra Amaral, Maarouf A. Hoteit, Rajendar K. Reddy, Eyob Feyssa, Emma E. Furth, Kim M. Olthoff, Samir Abu‐Gazala, Matthew H. Levine, Frederick Vyas, Peter L. Abt   +14 more
wiley   +1 more source

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

#1443 Bone and mineral metabolism in patients with nephropathic cystinosis as a function of age and eGFR

Nephrology, Dialysis and Transplantation
Cystinosis-associated metabolic bone disease (CMBD) is a major challenge in the treatment of patients with infantile nephropathic cystinosis (NC).
Johannes Lahring, M. Leifheit-Nestler, N. Herzig, Jun Oh, Anja K. Büscher, J. Thumfart, Lutz T Weber, K. Arbeiter, B. Acham-Roschitz, B. Tönshoff, Katharina Hohenfellner, D. Haffner   +11 more
semanticscholar   +1 more source

Improving Patient Understanding of Glomerular Disease Terms With ChatGPT

International Journal of Clinical Practice, Volume 2025, Issue 1, 2025.
Background: Glomerular disease is complex and difficult for patients to understand, as it involves various pathophysiology, immunology, and pharmacology areas. Objective: This study explored whether ChatGPT can maintain accuracy while simplifying glomerular disease terms to enhance patient comprehension.
Yasir H. Abdelgadir, Charat Thongprayoon, Iasmina M. Craici, Wisit Cheungpasitporn, Jing Miao, Harry H. X. Wang   +5 more
wiley   +1 more source

Nephropathic Cystinosis : First reported case in Oman

Sultan Qaboos University Medical Journal, 2011
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj  

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Hematological involvement in nephropathic cystinosis: new insights

Journal of Rare Diseases
Nephropathic cystinosis (NC) is a rare autosomal recessive lysosomal storage disease characterized by defective lysosomal efflux of cystine due to variations in the CTNS gene encoding the lysosomal cystine transporter, cystinosin.
M. El-Ghamrawy, Neveen A. Soliman
semanticscholar   +1 more source