Results 91 to 100 of about 1,950 (208)

Intellectual and motor performance, quality of life and psychosocial adjustment in children with cystinosis [PDF]

, 2018
Cystinosis is a rare multisystemic progressive disorder mandating lifelong medical treatment. Knowledge on the intellectual and motor functioning, health-related quality of life and psychosocial adjustment in children with cystinosis is limited.
Ha Vinh, Russia, Huisman, Thierry, Landolt, Markus, Latal, Bea, Laube, Guido, Neuhaus, Thomas, Ulmer, Francis   +6 more
core  

Role of biomarkers of inflammation and MRI technique for the early detection of cystinosis-associated myopathy

Egyptian Pediatric Association Gazette
Background Cystinosis is an autosomal recessive lysosomal storage disorder caused by cystine crystals accumulation within lysosomes resulting in multi-organ dysfunction.
Rasha Helmy, Rasha Selim Mahmoud, Mohamed A. Elmonem, Sally Emadeldin, Neveen Abd Elmonem Soliman   +4 more
doaj   +1 more source

Nephropathic Cystinosis Presenting as Renal Fanconi Syndrome without Glycosuria [PDF]

Journal of Clinical and Diagnostic Research, 2015
Renal Fanconi syndrome is diagnosed by its cardinal features of glycosuria without diabetes, aminoaciduria, phosphaturia, and renal tubular acidosis. It is often associated with hypokalaemia, hypophosphatemia and rickets.
Jayashree Kanthila, Smitha Dsa, Kamalakshi G. Bhat   +2 more
doaj   +1 more source

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

Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney

Nature Communications, 2018
Nephropathic cystinosis is a lysosomal storage disease characterized by proximal tubular cell dysfunction. Here Festa and colleagues show that these lysosomal alterations lead to defective autophagic clearance of mitochondria and increased oxidative ...
Beatrice Paola Festa, Zhiyong Chen, Marine Berquez, Huguette Debaix, Natsuko Tokonami, Jenny Ann Prange, Glenn van de Hoek, Cremonesi Alessio, Andrea Raimondi, Nathalie Nevo, Rachel H. Giles, Olivier Devuyst, Alessandro Luciani   +12 more
doaj   +1 more source

Early genetic diagnosis of cystinosis before corneal crystal deposition: two case reports from South India [PDF]

Childhood Kidney Diseases
Cystinosis is a rare autosomal recessive lysosomal storage disorder with an incidence of approximately 1 in 100,000 to 200,000 live births. It is the most common cause of inherited pediatric Fanconi syndrome (FS).
Lubna K. P., Rehna K. Rahman, Preetha Remesh, Manjula Anand, Nirmal Jayadevan, Divya Pachat   +5 more
doaj   +1 more source

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

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

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

Urinary proteome pattern in children with renal Fanconi syndrome [PDF]

, 2017
Background. The renal Fanconi syndrome (FS) is characterized by renal glucosuria, loss of electrolytes, bicarbonate and lactate, generalized hyperaminoaciduria and low-molecular-weight proteinuria.
Drube, Jens, Ehrich, Jochen H. H., Kemper, Markus J., Lichtinghagen, Ralf, Mischak, Harald, Neuhaus, Thomas, Pape, Lars, Schiffer, Eric   +7 more
core