Results 71 to 80 of about 1,953 (203)

CTNS molecular genetics profile in a Persian nephropathic cystinosis population

Nefrología, 2017
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.
Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam   +7 more
doaj   +3 more sources

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  

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

JIMD Reports, Volume 66, Issue 1, January 2025.
Abstract Background Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities.
I. J. Hieltjes, J. H. van der Lee, M. C. Groenendijk, G. van Haaften, P. M. van Hasselt, R. J. Lunsing, G. J. J. van Prooijen, E. M. de Ruiter, F. J. van Spronsen, N. M. Verhoeven‐Duif, A. de Vreugd, M. Wagenmakers, H. Zweers, H. Dekker, H. R. Waterham, C. D. van Karnebeek, R. J. A. Wanders, R. A. Wevers   +17 more
wiley   +1 more source

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

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

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  

Nephropathic cystinosis in a kidney transplant recipient: A mesenteric lymph node demonstrates positive birefringent crystals

Human Pathology Reports, 2022
We report a kidney transplant recipient in their early twenties with infantile nephropathic cystinosis and EBV viremia who presented with right flank pain, night sweats, and right lower quadrant abdominal tenderness. A CT scan of the abdomen demonstrated
Trevor F. Killeen, Sarah L. Elfering, Samy M. Riad, Michael A. Linden, Ethan Y. Leng, Raja Kandaswamy, Sarah J. Kizilbash, Blanche M. Chavers, James V. Harmon   +8 more
doaj   +1 more source

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  

Altered mTOR signalling in nephropathic cystinosis [PDF]

Journal of Inherited Metabolic Disease, 2016
AbstractLysosomes play a central role in regulating autophagy via activation of mammalian target of rapamycin complex 1 (mTORC1). We examined mTORC1 signalling in the lysosomal storage disease nephropathic cystinosis (MIM 219800), in which accumulation of autophagy markers has been previously demonstrated.
Ivanova, E.A., Heuvel, L.P.W.J. van den, Elmonem, M.A., Smedt, H. De, Missiaen, L., Pastore, A., Mekahli, D., Bultynck, G., Levtchenko, E.N.   +8 more
openaire   +2 more sources

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