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Purpose: To evaluate ocular treatment adherence and its impact on clinical outcomes in patients with cystinosis in southwestern Ontario, where the disease incidence is higher due to a founder effect in the Old Order Amish population.
Methods: This was a retrospective case series of patients with ocular cystinosis seen at Victoria Hospital and the Ivey Eye Institute at St Joseph's Health Care in London, Ontario, Canada, from 2008 to 2023. The authors investigated the demographics, ocular manifestations, and visual outcomes and characteristics in pediatric patients with ocular cystinosis.
Prospective Study of Patient, Nursing, and Oncology Provider Perspectives on Telemedicine Visits for Renal Cell Carcinoma Clinical Trials.
Clin Genitourin Cancer
November 2024
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY; Department of Medicine, Weill Cornell Medical College, New York, NY. Electronic address:
Purpose: Clinical trials enable renal cell carcinoma (RCC) patients to receive promising investigational agents, yet access may be limited. Telemedicine (TM) is an increasingly utilized platform that can expand access, but perspectives on its use in clinical trial care are unknown.
Patients And Methods: A prospective study was conducted between Jan 2023 - Oct 2023 at Memorial Sloan Kettering Cancer Center.
Cystinosis metabolic bone disease: inflammatory profile in human peripheral blood mononuclear cells and derived osteoclasts.
Eur J Pediatr
November 2024
Pathophysiology, Diagnosis and Treatments of Bone Diseases, INSERM UMR1033, Lyon, France.
Unlabelled: Cystinosis metabolic bone disease (CMBD) is an emerging concept in infantile nephropathic cystinosis, patients presenting with bone pains, fractures, and deformations during teenage or early adulthood. The underlying mechanisms remain unclear. Our aim was to explore the pro-inflammatory profile of osteoclastic lineage in cystinotic patients.
View Article and Find Full Text PDFZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts.
Biomed Pharmacother
December 2024
Clinical Pharmacology Group, Health Research Institute of Santiago de Compostela (IDIS), Santiago de Compostela, Spain. Electronic address:
Article Synopsis
- Cysteamine is the only treatment for cystinosis, a genetic disorder affecting kidneys, eyes, and muscles, but only manages symptoms and has side effects.
- There is a need for new therapies, which involves understanding how cysteamine works at the molecular level, particularly its impact on proteins in cystinotic skin fibroblasts.
- Research shows that cysteamine influences specific lysosomal proteins and partially reverses protein differences in cystinotic cells, providing insights into its therapeutic benefits and limitations.
Reconstitution of Rab11-FIP4 Expression Rescues Cellular Homeostasis in Cystinosis.
Mol Cell Biol
November 2024
Department of Molecular and Cellular Biology, The Scripps Research Institute, La Jolla, California, USA.
Rab11 family interacting protein 4 (Rab11-FIP4) regulates endocytic trafficking. A possible role for Rab11-FIP4 in the regulation of lysosomal function has been proposed, but its precise function in the regulation of cellular homeostasis is unknown. By mRNA array and protein analysis, we found that Rab11-FIP4 is downregulated in the lysosomal storage disease cystinosis, which is caused by genetic defects in the lysosomal cystine transporter, cystinosin.
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