Results 21 to 30 of about 1,003 (165)

Nephropathic cystinosis: an update [PDF]

Current Opinion in Pediatrics, 2017
Purpose of review Over the past few decades, cystinosis, a rare lysosomal storage disorder, has evolved into a treatable metabolic disease. The increasing understanding of its pathophysiology has made cystinosis a prototype disease, delivering new insights into several fundamental biochemical and cellular processes.
Veys, K.R., Elmonem, M.A., Arcolino, F.O., van den Heuvel, L.P., van den Heuvel, L.P., van den Heuvel, L.P., Levtchenko, E.N.   +6 more
openaire   +3 more sources

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

Efficacy mechanisms research progress of the active components in the characteristic woody edible oils

Food Frontiers, Volume 4, Issue 4, Page 1578-1605, December 2023., 2023
As six novel woody crops, Paeonia suffruticosa, Plukenetia volubilis, Acer truncatum, Olea europaea, Camellia sinensis, and Camellia oleifera are characterized by high oil production, widespread cultivation, adaptability, low cost, and various active ingredients.
Lili Xu, Wei Wang, Kaiwen Bai, Yi Wu, Yilin Ling, Xiaoyue Kong, Romero Agusti, Qianhui Qi, Zhaisheng Zheng, Ming'an Yuan, Le Chen, Lianliang Liu, Peifang Weng, Yu Zhang   +13 more
wiley   +1 more source

Newborn Screening: Review of its Impact for Cystinosis

Cells, 2022
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +1 more source

mTOR signaling in renal ion transport

Acta Physiologica, Volume 238, Issue 1, May 2023., 2023
Abstract The mammalian target of rapamycin (mTOR) signaling pathway is crucial in maintaining cell growth and metabolism. The mTOR protein kinase constitutes the catalytic subunit of two multimeric protein complexes called mTOR complex 1 (mTORC1) and mTOR complex 2 (mTORC2).
Anastasia Adella, Jeroen H. F. de Baaij
wiley   +1 more source

Ophthalmic Evaluation of Diagnosed Cases of Eye Cystinosis: A Tertiary Care Center’s Experience

Diagnostics, 2020
Background: We aimed to identify diagnosed cases of ocular cystinosis and describe clinical, epidemiological and therapeutic characteristics. Methods: This is a descriptive and retrospective case series. All patients underwent a full check-up examination
Malgorzata Kowalczyk, Mario Damiano Toro, Robert Rejdak, Wojciech Załuska, Caterina Gagliano, Przemyslaw Sikora   +5 more
doaj   +1 more source

Executive Function in Nephropathic Cystinosis [PDF]

Cognitive and Behavioral Neurology, 2013
We studied executive function (EF) in children and adolescents with cystinosis.Cystinosis is a genetic metabolic disorder in which the amino acid cystine accumulates in all organs of the body, including the brain. Previous research has shown that individuals with cystinosis have visuospatial deficits, but normal intelligence and intact verbal abilities.
Angela O, Ballantyne, Amy M, Spilkin, Doris A, Trauner   +2 more
openaire   +2 more sources

Structural and molecular characterization of paraventricular thalamic glucokinase‐expressing neuronal circuits in the mouse

Journal of Comparative Neurology, Volume 530, Issue 11, Page 1773-1949, August 2022., 2022
By using a genetically modified mouse model and viral tracing approaches, we mapped both the anterograde and the retrograde projections of a subpopulation of neurons in the anterior paraventricular thalamic nucleus, molecularly defined by the expression of glucokinase (GckaPVT).
Sevasti Gaspari, Simon Quenneville, Ana Rodriguez Sanchez‐Archidona, Bernard Thorens, Sophie Croizier   +4 more
wiley   +1 more source

Neuromuscular conditions and the impact of cystine‐depleting therapy in infantile nephropathic cystinosis: A cross‐sectional analysis of 55 patients

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 183-191, March 2022., 2022
Abstract Infantile nephropathic cystinosis (INC) is a rare lysosomal storage disease caused by biallelic mutations in the cystinosin gene, leading to cystine accumulation in various organs. The aim of this cross‐sectional study was to investigate neuromuscular complications in a cohort of 55 patients (aged 2.8‐41.3 years, median 18.5 years) with INC ...
Katharina Vill, Wolfgang Müller‐Felber, Timotheus Landfarth, Christian Köppl, Nadine Herzig, Christine Knerr, Heike Holla, Günther Steidle, Erik Harms, Katharina Hohenfellner, the Interdisciplinary Cystinosis Group   +10 more
wiley   +1 more source

Body growth, upper arm fat area, and clinical parameters in children with nephropathic cystinosis compared with other pediatric chronic kidney disease entities

Journal of Inherited Metabolic Disease, Volume 45, Issue 2, Page 192-202, March 2022., 2022
Abstract Children with infantile nephropathic cystinosis (INC), an inherited lysosomal storage disease resulting in cystine accumulation in all body cells, are prone to progressive chronic kidney disease (CKD), impaired growth and reduced weight gain; however, systematic anthropometric analyses are lacking.
Rika Kluck, Sophia Müller, Celina Jagodzinski, Katharina Hohenfellner, Anja Büscher, Markus J. Kemper, Jun Oh, Heiko Billing, Julia Thumfart, Lutz T. Weber, Birgit Acham‐Roschitz, Klaus Arbeiter, Burkhard Tönshoff, Martina Hagenberg, Nele Kanzelmeyer, Leo Pavičić, Dieter Haffner, Miroslav Zivicnjak   +17 more
wiley   +1 more source