Results 61 to 70 of about 5,039 (197)

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

open access: yesMiddle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia   +3 more
doaj   +1 more source

In Vitro and In Vivo Models to Study Nephropathic Cystinosis

open access: yesCells, 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

How Well Do “Dr. Google” and “Professor YouTube” Answer Health Questions for Pediatric Kidney Transplant Recipients and Caregivers?

open access: yesPediatric Transplantation, Volume 30, Issue 8, August 2026.
Google and YouTube searches revealed few pediatric‐appropriate transplant resources, with most materials lacking completeness and actionable guidance. Findings highlight the need for clearer, more reliable online education for pediatric kidney transplant recipients and caregivers.
Ashley Burghall   +16 more
wiley   +1 more source

Design of Nanocarriers for Kidney Targeted Delivery of Nucleic Acid Therapeutics

open access: yesMacromolecular Bioscience, Volume 26, Issue 7, July 2026.
Nucleic acid therapeutics have been investigated to expand their applications to renal genetic disorders. This review summarizes key considerations in the design and fabrication of nanocarriers for the systemic delivery of nucleic acid therapeutics to the kidneys.
Jun Hyuk Lee   +3 more
wiley   +1 more source

Nephropathic cystinosis presenting with uveitis: Report of a “Can't See, Can't Pee” situation

open access: yesIndian Journal of Pathology and Microbiology, 2019
Nephropathic cystinosis is a rare autosomal recessive lysosomal disease characterized by accumulation of pathognomonic cystine crystals in renal and other tissues of the body.
Smita Mary Matthai   +4 more
doaj   +1 more source

From Offline to Inline Without Pain: A Practical Framework for Translating Offline MR Reconstructions to Inline Deployment Using the Gadgetron Platform

open access: yesMagnetic Resonance in Medicine, Volume 96, Issue 1, Page 448-459, July 2026.
ABSTRACT Purpose To develop and validate a practical, open‐source framework to overcome common issues in inline deployment of established offline MR reconstruction, including (1) scan disruption from lengthy reconstructions, (2) limited support for multi‐scan input reconstructions, (3) needs to adapt scripts for different raw‐data formats, and (4 ...
Zihan Ning   +26 more
wiley   +1 more source

Paediatric renal transplantation: Paediatric surgeons' perspective

open access: yesSurgical Practice, Volume 30, Issue 2, Page 117-122, May 2026.
Abstract Renal transplantation is the most effective treatment for paediatric end‐stage renal disease (ESRD), offering advantages in survival, growth and neurocognitive development that surpass other renal replacement therapies (RRT). The paediatric setting, however, introduces distinct complexities that distinguish it from adult practice.
Adrian Chi‐heng Fung   +3 more
wiley   +1 more source

Cystinosis in Eastern Turkey

open access: yes, 2016
Background: This study was conducted to investigate CTNS (cystinosin, lysosomal cystine transporter) gene mutations and the clinical spectrum of nephropathic cystinosis among patients diagnosed with the disease in a single center in ...
CESUR, Yaşar   +5 more
core   +1 more source

Bioprinting Organs—Science or Fiction?—A Review From Students to Students

open access: yesAdvanced Healthcare Materials, Volume 15, Issue 16, 24 April 2026.
Bioprinting artificial organs has the potential to revolutionize the medical field. This is a comprehensive review of the bioprinting workflow delving into the latest advancements in bioinks, materials and bioprinting techniques, exploring the critical stages of tissue maturation and functionality.
Nicoletta Murenu   +18 more
wiley   +1 more source

A new mutation in two siblings with cystinosis presenting with Bartter syndrome

open access: yes, 2004
Nephropathic cystinosis is a severe autosomal recessive inherited metabolic disease characterized by accumulation of free cystine in lysosomes. Cystinosis can lead to renal failure and multiorgan impairment.
Pennesi, Marco   +7 more
core   +1 more source

Home - About - Disclaimer - Privacy