Results 41 to 50 of about 4,878 (206)

Fertility Management in Cystinosis: A Clinical Perspective

Kidney International Reports
Cystinosis is a rare, inherited, lysosomal storage disorder characterized by the progressive accumulation of intralysosomal cystine and subsequent organ and tissue damage. The kidneys are the first and most severely impacted organ.
Craig B. Langman, Rowena B. Delos Santos, Cybele Ghossein, Andrea M. Atherton, Elena N. Levtchenko, Aude Servais   +5 more
doaj   +1 more source

Dialysis Vintage and Symptom Burden in Hemodialysis: A Comprehensive Analysis

Nursing &Health Sciences, Volume 27, Issue 3, September 2025.
ABSTRACT End‐stage renal disease (ESRD) requires lifelong maintenance hemodialysis (MHD), and patients commonly experience a high symptom burden that affects their quality of life. This study explores the impact of dialysis vintage on symptom burden and quality of life in ESRD patients undergoing MHD.
Shanshan Yan, Ya Wang, Zhenzhen Li, Duo Wang, Dongfang Yao   +4 more
wiley   +1 more source

A different approach to cystinosis: ultrasound, doppler, and shear wave elastography findings of thyroid gland

Orphanet Journal of Rare Diseases, 2023
Background While thyroid dysfunction develops in about 50% of untreated children with cystinosis, there is no data about how the sonography of thyroid tissue appears in this disease.
Derya Bako, Sebile Kılavuz, Adem Yasin Köksoy, Zeynep Uzan Tatli, Engin Beydogan   +4 more
doaj   +1 more source

Executive Functioning and Mental Health in Adolescent Kidney Transplant Candidates During the COVID‐19 Pandemic

Pediatric Transplantation, Volume 29, Issue 6, September 2025.
Adolescent kidney transplant candidates, not preadolescent candidates, exhibited greater executive functioning difficulties and mental health concerns during the COVID‐19 pandemic compared to adolescent candidates evaluated before the pandemic.
Finola E. Kane‐Grade, Danielle Glad, Christopher Anzalone, Michael D. Evans, Sarah Kizilbash, Lidan Gu   +5 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  

Cognitive functions and behavioural profiles in children with cystinosis treated with cysteamine and correlation with treatment duration

Middle East Current Psychiatry, 2022
Background Cystinosis is a rare autosomal recessive disease. Children with nephropathic cystinosis (NCTN) have evidence of intellectual dysfunction and behavioural abnormalities which are attributed to renal dysfunction, metabolic disarrangement, and ...
Fatma M. Atia, Weam Ryad Alfaleet, Somaya H. Shaheen, Neveen A. Soliman   +3 more
doaj   +1 more source

Macrophages: Subtypes, Distribution, Polarization, Immunomodulatory Functions, and Therapeutics

MedComm, Volume 6, Issue 8, August 2025.
Macrophages originate from the yolk sac, fetal liver, and bone marrow, differentiating into two main subtypes: M1‐like (proinflammatory) and M2‐like (anti‐inflammatory). These subtypes exhibit high plasticity, allowing them to transform in response to environmental cues or therapeutic interventions.
Mengyuan Peng, Niannian Li, Hongbo Wang, Yaxu Li, Hui Liu, Yanhua Luo, Bao Lang, Weihang Zhang, Shilong Li, Liujun Tian, Bin Liu   +10 more
wiley   +1 more source

Unveiling cystinosis in India

Journal of Rare Diseases
Background Cystinosis, a rare autosomal recessive disease, stems from genetic alterations in the CTNS gene, leading to a malfunction of lysosomal ‘cystinosin’ protein.
Aniruddh Heroor, Anshuman Verma, Divya Sree Achanta, Deepak Paul Edward, Muralidhar Ramappa   +4 more
doaj   +1 more source

Diagnostic challenge in a patient with nephropathic juvenile cystinosis: a case report

BMC Nephrology, 2017
Background Cystinosis is a rare autosomal recessive lysosomal disorder characterized by the accumulation of cystine in lysosomes. Cystinosis is much rarer in Asian than Caucasian populations. There are only 14 patients have with cystinosis alive in Japan.
Satomi Higashi, Natsuki Matsunoshita, Masako Otani, Etsuro Tokuhiro, Kandai Nozu, Shuichi Ito   +5 more
doaj   +1 more source

Newborn Screening: Review of its Impact for Cystinosis

Cells, 2022
Newborn screening (NBS) programmes are considered to be one of the most successful secondary prevention measures in childhood to prevent or reduce morbidity and/or mortality via early disease identification and subsequent initiation of therapy.
Katharina Hohenfellner, Ewa Elenberg, Gema Ariceta, Galina Nesterova, Neveen A. Soliman, Rezan Topaloglu   +5 more
doaj   +1 more source