Results 41 to 50 of about 3,487 (162)

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

Magnetic 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, Yannick Brackenier, Sarah McElroy, Sara Neves Silva, Lucilio Cordero‐Grande, Samuel Rot, Liane S. Canas, Rebecca E. Thornley, David Leitão, Davide Poccecai, Andrew Cantell, Rene Kerosi, Anthony N. Price, Jon Cleary, Donald J. Tournier, Jana Hutter, .Philippa Bridgen, Pierluigi Di Cio, Michela Cleri, Inka Granlund, Lucy Billimoria, Yasmin Blunck, Shaihan Malik, Marc Modat, Sebastien Ourselin, Claire J. Steves, Joseph V. Hajnal   +26 more
wiley   +1 more source

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

Middle 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, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Paediatric renal transplantation: Paediatric surgeons' perspective

Surgical 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, Mary Kim Elizabeth Tan Cudia, Ivy Hau‐yee Chan, Kenneth Kak‐yuen Wong   +3 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  

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +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, Patrick T. Harrison, Alan J. Davidson, Jennifer A. Hollywood   +3 more
doaj   +1 more source

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

Advanced 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, Camilla Mussoni, Mateo S. Andrade Mier, Paula Buettner, Nathaly Chicaiza‐Cabezas, Yi‐Yu Robin Dai, Jessica Faber, Maren Fiedler, Zan Lamberger, Xuen Jen Ng, Vanessa Moessler, Anna Rederer, Jonas Roeder, Sabrina Stecher, Katinka Theis, Jeanette Weigelt, Silvia Budday, Gregor Lang, Natascha Schaefer   +18 more
wiley   +1 more source

Exploring the Intersection of Rare Diseases and Mental Health Within the Diagnostic Odyssey: A Narrative Review and Thematic Synthesis

Nursing Open, Volume 13, Issue 4, April 2026.
ABSTRACT Aim To explore what is known about the intersection of mental health and rare diseases. Design Narrative review with peer‐reviewed literature from 2009 onwards. Methods The study searched for literature on these databases in September 2024: CINAHL, Scopus, Pubmed, Medline, Embase, and PsycInfo, as well as citation chaining and supplementary ...
Eileen Wu, Sophie Isobel, Paul Beckett
wiley   +1 more source

Bridging pediatric to adult care in cystinosis: a scoping review of healthcare transition of care protocols and a roadmap for future practice

BMC Nephrology
Cystinosis is a rare lysosomal storage disorder that affects approximately 1 in 100,000 to 200,000 live births worldwide. Long-term graft success in cystinosis depends on cysteamine adherence and structured multidisciplinary transition, supported by ...
Sanat Subhash, Nicholas Pantelakis, Kyle Backston, Ruhaan Bajpai, Amir Safadi, Brandon Petrovich, Bradley A. Warady, Maria Diaz-Gonzalez de Ferris, Rupesh Raina   +8 more
doaj   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source