Results 51 to 60 of about 1,000 (164)
Improving the prognosis of nephropathic cystinosis
International Journal of Nephrology and Renovascular Disease, 2014 Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated.
Besouw, Martine Tp, Levtchenko, Elena N
openaire +5 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 +5 more
wiley +1 more source
CTNS mutations in publicly-available human cystinosis cell lines
Molecular Genetics and Metabolism Reports, 2015 Patient samples play an important role in the study of inherited metabolic disorders. Open-access biorepositories distribute such samples. Unfortunately, not all clinically-characterized samples come with reliable genotype information.
Artem Zykovich +3 more
doaj +1 more source
Multimodal imaging of infantile nephropathic cystinosis
Indian Journal of Ophthalmology. Case Reports, 2021 Cystinosis is a lysosomal storage disorder characterized by cystine crystal accumulation in different parts of body including the eyes. The purpose of this article was to describe different ophthalmological abnormalities in cystinosis using multimodal ...
Krishna K Roy +3 more
doaj +1 more source
The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)
International Journal of Nephrology, Volume 2025, Issue 1, 2025.Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi +5 more
wiley +1 more source
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 +8 more
doaj +1 more source
Chiari I Malformation in Nephropathic Cystinosis [PDF]
The Journal of Pediatrics, 2015 To determine the relative incidence of Chiari I malformations in children with cystinosis compared with those in the general population.Magnetic resonance imaging scans were performed on 53 patients with nephropathic cystinosis and 120 controls, age range 3-18 years.Ten of 53 (18.9%) patients with cystinosis had Chiari I or tonsillar ectopia, and only ...
Kavya I. Rao +2 more
openaire +2 more sources
Population pharmacokinetics and pharmacodynamics of cysteamine in nephropathic cystinosis patients
Orphanet Journal of Rare Diseases, 2011 Background Nephropathic cystinosis is an autosomal recessive disorder resulting in an impaired transport of cystine trough the lysosomal membrane causing an accumulation of free cystine in lysosomes.
Bouazza Naïm +7 more
doaj +1 more source
Substrate selectivity and inhibition of the human lysyl hydroxylase JMJD7
Protein Science, Volume 33, Issue 10, October 2024.Abstract Jumonji‐C (JmjC) domain‐containing protein 7 (JMJD7) is a human Fe(II) and 2‐oxoglutarate dependent oxygenase that catalyzes stereospecific C3‐hydroxylation of lysyl‐residues in developmentally regulated GTP binding proteins 1 and 2 (DRG1/2). We report studies exploring a diverse set of lysine derivatives incorporated into the DRG1 peptides as
Nurgül Bilgin +8 more
wiley +1 more source
Luteolin: A promising multifunctional natural flavonoid for human diseases
Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu +9 more
wiley +1 more source