Results 61 to 70 of about 575 (134)

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

The Scientific World Journal, Volume 2015, Issue 1, 2015., 2015
Infantile cystinosis (IC) is a rare autosomal recessive disorder characterized by a defect in the lysosomal‐membrane transport protein, cystinosin. It serves as a prototype for lysosomal transport disorders. To date, several CTNS mutations have been identified as the cause of the prototypic disease across different ethnic populations worldwide. However,
Yong-jia Yang, Yuan Hu, Rui Zhao, Xinyu He, Liu Zhao, Ming Tu, Lijun Zhou, Jihong Guo, Linqian Wu, Tantai Zhao, Yi-min Zhu, Tangui Maurice   +11 more
wiley   +1 more source

The Evolving Experience and Outcomes of Pediatric Kidney Transplant in Abu Dhabi, UAE (2010–2024)

International Journal of Nephrology, Volume 2025, Issue 1, 2025.
Background Kidney transplant is acknowledged as the treatment of choice for end‐stage renal disease (ESRD). This study reports on the outcome of pediatric renal transplant at a tertiary hospital in Abu Dhabi. Methods It is a retrospective study of all pediatric renal transplants performed at a single designated pediatric center between February 2010 ...
Ela Beyyumi, Watfa Al Dhaheri, Niaz Ahmad, Muhammad Badar Zaman, Eihab Al Khasawneh, Tej Mattoo   +5 more
wiley   +1 more source

Adrenal Disorders and the Paediatric Brain: Pathophysiological Considerations and Clinical Implications

International Journal of Endocrinology, Volume 2014, Issue 1, 2014., 2014
Various neurological and psychiatric manifestations have been recorded in children with adrenal disorders. Based on literature review and on personal case‐studies and case‐series we focused on the pathophysiological and clinical implications of glucocorticoid‐related, mineralcorticoid‐related, and catecholamine‐related paediatric nervous system ...
Vincenzo Salpietro, Agata Polizzi, Gabriella Di Rosa, Anna Claudia Romeo, Valeria Dipasquale, Paolo Morabito, Valeria Chirico, Teresa Arrigo, Martino Ruggieri, Gian Paolo Rossi   +9 more
wiley   +1 more source

Nephropathic Cystinosis : First reported case in Oman

Sultan Qaboos University Medical Journal, 2011
Cystinosis is an autosomal recessive, lysosomal storage disease characterised by the accumulation of the amino acid cystine in different organs and tissues. It is a multisystemic disease that can present with renal and extra renal manifestations.
Dana Al-Nabhani, Mohammed El-Naggari, Rana Al-Sinawi, Alexander P. Chacko, Anuradha Ganesh, Ibtisam El Nour   +5 more
doaj  

Luteolin: A promising multifunctional natural flavonoid for human diseases

Phytotherapy Research, Volume 38, Issue 7, Page 3417-3443, July 2024.
Luteolin, a flavonoid polyphenolic compound, has the ability to target multiple targets and pathways of the complex pathogenesis of related diseases, showing unique characteristics and benefits in the prevention or treatment of human diseases. Abstract Natural products are closely associated with human health.
Mingtao Zhu, Yanping Sun, Yang Su, Wei Guan, Yu Wang, Jianwei Han, Shuang Wang, Bingyou Yang, Qiuhong Wang, Haixue Kuang   +9 more
wiley   +1 more source

Neuropathic Cystinosis: A Rare Case Report

مجله كليه طب الكندي
Cystinosis is a lysosomal storage disease characterized by an intracellular accumulation of cystine in different organs and tissues, leading to potentially severe organ dysfunction.
Ahmed Muthana, Rabab Farhan Thejeal, Ikhlas Ali Ahmed   +2 more
doaj   +1 more source

Dental implant placement in a patient with cystinosis. A case report

Journal of Oral Medicine and Oral Surgery, 2018
Introduction: Cystinosis is a rare genetic disease due to a defective transport of cystine out of the lysosomes, caused by a mutation of the gene encoding for the lysosomal carrier protein, the cystinosin. Cystine accumulation results in the formation of
Bretaudeau Clara, Paredes Francesca Siu, Sergheraert Johan, Massa Luciana, Laurence Sébastien, Diebold Marie-Hélène, Lefèvre Benoît, Mauprivez Cédric   +7 more
doaj   +1 more source

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

Ocular cystinosis – Clinical presentation and review of the literature

Indian Journal of Ophthalmology. Case Reports
Cystinosis is one of the rarest multisystem lysosomal storage disorders characterized by the accumulation of cystine in lysosomes due to a defective CTNS gene. Infantile nephropathic cystinosis (INC) is the most common and severe phenotype. Varied ocular
Shweta Dhiman, Santosh K Mahapatra, Anjalika Parhi, Pallavi Shree, Parul Jain   +4 more
doaj   +1 more source

The Ocular Status of Cystinosis Patients Receiving a Hospital Pharmacy-Made Preparation of Cysteamine Eye Drops: A Case Series

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
doaj   +1 more source