Results 41 to 50 of about 7,637 (215)
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, EarlyView.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Central Nervous System Complications in Cystinosis: The Role of Neuroimaging
Cells, 2022 Despite improvement in the specific treatment, clinical and anatomo-functional central nervous system (CNS) abnormalities of various severities are still observed in cystinosis patients.
Aude Servais +4 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 +16 more
core
Saudi Journal of Kidney Diseases and Transplantation, 2016 Cystinosis is an autosomal recessive lysosomal storage disorder characterized by the accumulation of the amino-acid cysteine in various organs and tissues. Infantile nephropathic cystinosis is the most severe form of the disorder.
Vaishali More, Preeti Shanbag
doaj +1 more source
Transplantation in children [PDF]
, 1976 Kidney transplantation in very young children, less than 2 years of age, has usually failed, mainly because of difficulties maintaining these patients on hemodialysis long enough to permit retransplantation after loss of the original graft.
Charles W. Putnam +15 more
core +1 more source
Revealing VNN1: An Emerging and Promising Target for Inflammation and Redox Balance
Immunity, Inflammation and Disease, Volume 13, Issue 10, October 2025.ABSTRACT Introduction The intricate balance between immunometabolic homeostasis and redox equilibrium is crucial for maintaining health, and its dysregulation is implicated in a wide spectrum of diseases. Vascular non‐inflammatory molecule‐1 (VNN1) is an emerging pantetheinase that sits at the crossroads of inflammation and metabolism, yet a ...
Linxi Lv +7 more
wiley +1 more source
Nefrología (English Edition), 2015 Introduction: Cystinosis is a rare systemic lysosomal storage disease that mainly affects the kidney and the eye. Renal replacement therapy is started in patients with cystinosis during the first decade of life in the absence of treatment.
Gema Ariceta +15 more
doaj +1 more source
Dialysis Vintage and Symptom Burden in Hemodialysis: A Comprehensive Analysis
Nursing &Health Sciences, Volume 27, Issue 3, September 2025.ABSTRACT End‐stage renal disease (ESRD) requires lifelong maintenance hemodialysis (MHD), and patients commonly experience a high symptom burden that affects their quality of life. This study explores the impact of dialysis vintage on symptom burden and quality of life in ESRD patients undergoing MHD.
Shanshan Yan +4 more
wiley +1 more source
In Vitro and In Vivo Models to Study Nephropathic Cystinosis
Cells, 2021 The development over the past 50 years of a variety of cell lines and animal models has provided valuable tools to understand the pathophysiology of nephropathic cystinosis. Primary cultures from patient biopsies have been instrumental in determining the
Pang Yuk Cheung +3 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 +16 more
core