Results 91 to 100 of about 1,953 (203)

Late-Onset Nephropathic Cystinosis [PDF]

Clinical Journal of the American Society of Nephrology, 2008
Cystinosis is an autosomal recessive disease characterized by the intralysosomal accumulation of cystine, as a result of a defect in cystine transport across the lysosomal membrane. Three clinical forms have been described on the basis of severity of symptoms and age of onset: infantile cystinosis, characterized by renal proximal tubulopathy and ...
Aude, Servais, Vincent, Morinière, Jean-Pierre, Grünfeld, Laure-Hélène, Noël, Jean-Michel, Goujon, Bernadette, Chadefaux-Vekemans, Corinne, Antignac   +6 more
openaire   +2 more sources

Hirschsprung′s disease with infantile nephropathic cystinosis

Journal of Indian Association of Pediatric Surgeons, 2015
The case of a 3-year-old boy diagnosed to have Hirschsprung's disease with infantile nephropathic cystinosis is being reported. Both these conditions are etiologically and genetically different as per current understanding and available information. The association is incidental and has not reported before in the English literature.
Mittal, Deepak, Bagga, Arvind, Tandon, Radhika, Sharma, Mehar Chand, Bhatnagar, Veereshwar   +4 more
openaire   +2 more sources

Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up [PDF]

, 2002
BACKGROUND: Nephropathic cystinosis is an autosomal recessive disease resulting from intracellular accumulation of cystine leading to multiple organ failure.
CE Kashtan, DS Strayer, GA McDowell, JA Schneider, JA Schneider, LR Charnas, M Town, NA Kir'ianov, R Kleta, RG Oshima, WA Gahl, WA Gahl, WA Gahl   +12 more
core   +3 more sources

Clinical perspectives on myopathic complications in nephropathic cystinosis

Journal of Rare Diseases
Patients with nephropathic cystinosis are now living into their 50s and beyond thanks to advances in medical management. Due to this shift in the natural history of the disease, monitoring for and addressing extrarenal manifestations, including myopathy,
Reza Sadjadi, Cybele Ghossein, Ewa Elenberg   +2 more
doaj   +1 more source

Restoration of CFTR function in patients with cystic fibrosis carrying the F508del-CFTR mutation [PDF]

, 2014
Restoration of BECN1/Beclin 1-dependent autophagy and depletion of SQSTM1/p62 by genetic manipulation or autophagy-stimulatory proteostasis regulators, such as cystamine, have positive effects on mouse models of human cystic fibrosis (CF). These measures
Amin R, Andrea Venerando, Angela Sepe, Anil Mehta, Anna Bossi, Anna Zolin, Antonella Tosco, Boyle MP BS, Carlo A Leone, Daniela De Stefano, Donaldson S., Fabiola De Gregorio, Fischer H, Gianni Bona, Gibson LE, Giuseppe De Rosa, Guido Kroemer, Illek B, Jayaraman S, Kerem B, Kerem Eithan HMO, Laura Salvadori, Legssyer R, Lorenzo A Pinna, Luigi Maiuri, Lukacs G, Maria C Maiuri, Massimo Pettoello-Mantovani, Masvidal L, Pharmaceuticals Cylene, Pharmaceuticals Cylene, Rosa Grassia, Speranza Esposito, Standardization of Spirometry, Stefano Guido, Stern M, Valeria R Villella, Valeria Raia, van Doorninck JH, Villella VR   +39 more
core   +4 more sources

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, Flynn, Kevin, Jester, Brian, Jester, James, Nien, Chyong Jy, Simpson, Jennifer   +5 more
core   +1 more source

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, AW Nugent, C Stollberger, C Stollberger, E Abderhalden, EN Oechslin, F Ichida, Graham W Lipkin, Ibrar Ahmed, M Ritter, Michael Frenneaux, MP Dixit, MT Boyd, R Chen, R Jenni, S Sasse-Klaassen, Thanh Trung Phan, TK Chin, WA Gahl, Y Agmon   +19 more
core   +4 more sources

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, Kay, Graeme, Knott, Rachel M., Matthews, Kerr H., McKenzie, Barbara   +4 more
core   +1 more source

Improving the prognosis of nephropathic cystinosis

International Journal of Nephrology and Renovascular Disease, 2014
Cystinosis is an autosomal recessive inherited lysosomal storage disease. It is characterized by generalized proximal tubular dysfunction known as renal Fanconi syndrome and causes end-stage renal disease by the age of about 10 years if left untreated.
Besouw, Martine Tp, Levtchenko, Elena N
openaire   +5 more sources

Chitotriosidase plasma activity in nephropathic cystinosis

Journal of Inherited Metabolic Disease, 2009
SummaryChitotriosidase is a fully active chitinase produced and secreted by activated phagocytes. Plasma chitotriosidase activity is a well‐established marker of total disease burden in Gaucher disease that has proved useful in monitoring the response to both enzyme replacement and substrate reduction therapies in patients with Gaucher disease ...
Xaidara, A., Karavitakis, E.M., Kosma, K., Emma, F., Dimitriou, E., Michelakakis, H.   +5 more
openaire   +3 more sources