Results 31 to 40 of about 48,474 (154)

Introducing the University of California, Irvine Corneal Cystine Crystal Score: A Novel Tool for Assessing Corneal Crystal Deposition in Cystinosis Patients [PDF]

Scientific Reports
This study aimed to develop and validate the University of California Irvine Corneal Cystine Crystal Score (UCI CCCS), a novel grading system for objectively assessing corneal crystal deposition in cystinosis patients using a slit lamp biomicroscope ...
Kimia Rezaei, Kourosh Shahraki, Lauren Chen, Shaden H. Yassin, Olivia L. Lee, Kianoush Shahraki, Donny W. Suh   +6 more
doaj   +2 more sources

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

Spectral domain optical coherence tomography-based retinochoroidal cystine crystal score: a window into infantile nephropathic cystinosis. [PDF]

Br J Ophthalmol, 2023
PRÉCIS: Cystinosis is a lysosomal storage disease leading to an accumulation of cystine crystals in several organs. We aim to comprehensively describe chorioretinal cystine crystals via spectral domain optical coherence tomography (SD-OCT) and elaborate ...
Keidel L, Hohenfellner K, Schworm B, Priglinger S, Luft N, Priglinger C.   +5 more
europepmc   +2 more sources

Diagnosis and management of cystinosis: systematic review for a clinical practice guideline [PDF]

Orphanet Journal of Rare Diseases
Background Cystinosis is a rare genetic disorder, with the majority of patients suffering from infantile nephropathic cystinosis, the most severe form. If left untreated, cystinosis causes serious morbidity, initially through progressive kidney and eye ...
Dominic Ledinger, Barbara Nussbaumer-Streit, Brigitte Piso, Andreea Dobrescu, Arianna Gadinger, Irma Klerings, Katharina Hohenfellner, Isolde Sommer   +7 more
doaj   +2 more sources

Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis. [PDF]

Mol Genet Metab, 2022
Infantile nephropathic cystinosis, due to impaired transport of cystine out of lysosomes, occurs with an incidence of 1 in 100–200,000 live births.
Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, Wühl E, Tönshoff B, Buescher A, Billing H, Hoppe B, Zirngibl M, Kettwig M, Moeller K, Acham-Roschitz B, Arbeiter K, Bald M, Benz M, Galiano M, John-Kroegel U, Klaus G, Marx-Berger D, Moser K, Mueller D, Patzer L, Pohl M, Seitz B, Treikauskas U, von Vigier RO, Gahl WA, Hohenfellner K.   +31 more
europepmc   +2 more sources

Hirschsprung's disease with infantile nephropathic cystinosis. [PDF]

J Indian Assoc Pediatr Surg, 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 D, Bagga A, Tandon R, Sharma MC, Bhatnagar V.   +4 more
europepmc   +3 more sources

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

Cellular and Molecular Mechanisms of Nephropathic Cystinosis [PDF]

, 2022
Nephropathic cystinosis (MIM # 219800) is a rare autosomal recessive disorder caused by mutations in the lysosomal cystine transporter cystinosin, encoded by the CTNS gene (17p13.2).

core   +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

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