The hen’s egg chorioallantoic membrane (HET-CAM) test to predict the ophthalmic irritation potential of a cysteamine-containing gel: quantification using Photoshop® and ImageJ. [PDF]
, 2015 A modified hen’s egg chorioallantoic membrane (HET-CAM) test has been developed, combining ImageJ analysis with Adobe® Photoshop®. The irritation potential of an ophthalmic medicine can be quantified using this method, by monitoring damage to blood ...
Cairns, Donald +4 more
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Ventricular noncompaction in a female patient with nephropathic cystinosis: a case report [PDF]
, 2009 Introduction We report an unusual and interesting case of a 24-year-old woman with nephropathic cystinosis in association with concomitant isolated noncompaction of the left ventricle. Left ventricular noncompaction usually presents with reduced exercise
A Geraldine +19 more
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Quantitative in vivo and ex vivo confocal microscopy analysis of corneal cystine crystals in the Ctns−/− knockout mouse [PDF]
, 2011 PurposeThe purpose of this study was to assess the ability of quantitative in vivo confocal microscopy to characterize the natural history and detect changes in crystal volume in corneas from a novel animal model of cystinosis, the cystinosin (Ctns ...
Cherqui, Stephanie +5 more
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ZenoSWATH DIA proteomics and clustering analysis of the effect of cysteamine at the cellular level in cystinotic fibroblasts [PDF]
[Abstract] Cysteamine, an aminothiol, is the only available treatment for cystinosis, an incurable metabolic recessive disease characterized by detrimental symptoms at the renal, ocular, and muscular levels.
Arufe, M.C. +7 more
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Ophthalmology and Therapy, 2018 Introduction Infantile nephropathic cystinosis (INC) is an autosomal recessive lysosomal disorder in which patients develop deposits of cystine crystals in their kidneys and corneas from a young age.
Susmito Biswas, Krishanthy Sornalingam
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Successful Management of a Neglected Case of Nephropathic Cystinosis
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 +4 more
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Intermediate type cystinosis with a novel CTNS variant in a child: a case report
Journal of Rare DiseasesCystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin +8 more
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Treatment of corneal cystine crystal accumulation in patients with cystinosis
Clinical Ophthalmology, 2014 Fatemeh Shams, Iain Livingstone, Dilys Oladiwura, Kanna Ramaesh Department of Ophthalmology, Gartnavel General Hospital, Glasgow, Scotland Abstract: Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within ...
Shams F +3 more
doaj
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis [PDF]
Cystinosis is a rare autosomal recessive disorder caused by mutations in the CTNS gene that encodes cystinosin, a ubiquitous lysosomal cystine/H+ antiporter.
Bellomo, Francesco +12 more
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