Results 31 to 40 of about 2,800 (183)

Infantile nephropathic cystinosis [PDF]

Kidney International, 2008
CASE PRESENTATION A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age.
Stokes, M.B., Jernigan, S., D'Agati, V.D.   +2 more
openaire   +2 more sources

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

Diagnostics and treatment of ocular complications in infantile nephropathic cystinosis [PDF]

, 2021
Cystinosis, as a rare disease, faces many difficulties with regard to appropriate early diagnostics and treatment. The aim of our study is to present current methods of diagnostics and treatment of ocular complications in an infantile nephropathic type ...
Rejdak, Robert; Department of General Ophthalmology and Paediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland, Toro, Mario Damiano; Department of General Ophthalmology and Paediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland; Faculty of Medicine, Collegium Medicum Cardinal Stefan Wyszynski University, Warsaw, Poland, Kowalczyk, Małgorzata; Department of General Ophthalmology and Paediatric Ophthalmology Service, Medical University of Lublin, Lublin, Poland, Sikora, Przemyslaw; Department of Paediatric Nephrology, Medical University of Lublin, Lublin, Poland   +3 more
core   +1 more source

Successful Management of a Neglected Case of Nephropathic Cystinosis [PDF]

Sultan Qaboos University Medical Journal, 2014
Cystinosis is a rare metabolic disorder characterised by lysosomal cystine accumulation leading to multi-organ damage; clinically, the kidneys are the first organ affected. Respiratory insufficiency caused by overall respiratory muscle myopathy is a life-
Mohamed A. El-Naggari, Ibtisam Elnour, Hussein Al-Kindy, Aamir Al-Shahrabally, Anas A. Abdelmogheth   +4 more
doaj   +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

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

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

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

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