Results 71 to 80 of about 6,860 (229)

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

Infantile nephropathic cystinosis with incomplete fanconi syndrome, hypothyroidism, hydro-uretero-nephrosis, and megacystis

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

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

Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis

Frontiers in Immunology
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
M. Rossi, V. Matteo, F. Diomedi-Camassei, Ester De Leo, Olivier Devuyst, Mohamed Lamkanfi, I. Caiello, E. Loricchio, F. Bellomo, A. Taranta, Francesco Emma, Fabrizio De Benedetti, G. Prencipe   +12 more
semanticscholar   +1 more source

Cysteamine–bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis

EMBO Molecular Medicine, 2021
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but
A. Jamalpoor, Charlotte A. G. H. van Gelder, F. Y. Yousef Yengej, E. Zaal, S. P. Berlingerio, Koenraad R P Veys, C. Pou Casellas, Koen Voskuil, Khaled Essa, C. Ammerlaan, L. Rega, Reini E N van der Welle, M. Lilien, M. Rookmaaker, H. Clevers, J. Klumperman, E. Levtchenko, C. Berkers, M. Verhaar, M. Altelaar, R. Masereeuw, M. Janssen   +21 more
semanticscholar   +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

Neurological impairment in nephropathic cystinosis: motor coordination deficits [PDF]

, 2010
Nephropathic cystinosis is a rare genetic metabolic disorder that results in accumulation of the amino acid cystine in lysosomes due to lack of a cystine-specific transporter protein.
John Hesselink, Crowhurst, Jennifer, Doris A. Trauner, Jennifer Crowhurst, Ballantyne, Angela O., Angela O. Ballantyne, Amy M. Spilkin, Jennifer Williams, Trauner, Doris A., Williams, Jennifer, Spilkin, Amy M., Hesselink, John   +11 more
core   +1 more source

Cystinosis-associated metabolic bone disease across ages and CKD stages 1-5D/T.

Journal of Clinical Endocrinology and Metabolism
CONTEXT The pathophysiology of cystinosis-associated metabolic bone disease is complex. OBJECTIVE We hypothesized a disturbed interaction between osteoblasts and osteoclasts. DESIGN Binational cross-sectional multicenter study.
Johannes Lahring, M. Leifheit-Nestler, Annika Ewert, N. Herzig, Christiana Köppl, Veronika Pott, Jun Oh, Anja K. Büscher, J. Thumfart, Lutz T. Weber, K. Arbeiter, B. Acham-Roschitz, B. Tönshoff, M. Zivicnjak, Katharina Hohenfellner, Dieter Haffner   +15 more
semanticscholar   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Epidemiology of progressive intellectual and neurological deterioration in UK children

Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.
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, Polly J. Maunder, Anne Marie Winstone, Suvankar Pal   +3 more
wiley   +1 more source