Introduction: Cystinuria is often diagnosed by large renal stone for pediatric patients. The patients suffer from recurrence of stone disease, develop the chronic kidney disease and fall into end-stage renal failure. Total removal of stone at the first intervention and prevention of recurrence are essential. Although, it is difficult to treat the pediatric stone patients for their anatomical feature.
Case Presentation: We report three cases of pediatric cystine stone patients (two 4-year-old boys and a 9-year-old girl) successfully treated by mini-percutaneous nephrolithotripsy and antegrade ureteroscopy. We could remove stones completely in all three cases, and the patients did not suffer from major complications.
Conclusion: It is essential to select the surgical approach, the endourological device, and the patient's position which is suitable for the age, the body size, and the condition of stones at the initial intervention of pediatric cystine stone.
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http://dx.doi.org/10.1002/iju5.12570 | DOI Listing |
Many inherited metabolic disorders (IMD) are associated with end-organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates. We present the first known report of liver transplantation from a deceased donor with cystinosis.
View Article and Find Full Text PDFCommun Biol
January 2025
Georgia Cancer Center, Augusta University, Augusta, GA, 30912, USA.
The transsulfuration (TSS) pathway is an alternative source of cysteine for glutathione synthesis. Little of the TSS pathway in antioxidant capacity in sickle cell disease (SCD) is known. Here, we evaluate the effects of TSS pathway activation through cystathionine beta-synthase (CBS) to attenuate reactive oxygen species (ROS) and ferroptosis stresses in SCD.
View Article and Find Full Text PDFFront Oncol
December 2024
Cansearch Research Platform for Pediatric Oncology and Hematology, Department of Pediatrics, Gynecology and Obstetrics, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
Background: We previously demonstrated that APR-246 (eprenetapopt) could be an efficient treatment option against neuroblastoma (NB), the most common pediatric extracranial solid tumor. APR-246's mechanism of action is not completely understood and can differ between cell types. Here we investigate the involvement of well-known oncogenic pathways in NB's response to APR-246.
View Article and Find Full Text PDFPurpose: To evaluate ocular treatment adherence and its impact on clinical outcomes in patients with cystinosis in southwestern Ontario, where the disease incidence is higher due to a founder effect in the Old Order Amish population.
Methods: This was a retrospective case series of patients with ocular cystinosis seen at Victoria Hospital and the Ivey Eye Institute at St Joseph's Health Care in London, Ontario, Canada, from 2008 to 2023. The authors investigated the demographics, ocular manifestations, and visual outcomes and characteristics in pediatric patients with ocular cystinosis.
Biochem Biophys Rep
December 2024
Department of Pediatric Orthopedics, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, 510623, China.
Neuromuscular scoliosis can be caused by muscular or nervous system dysfunction resulting from genetic variants. Variation in may cause hypertrophic or dilated cardiomyopathy, skeletal myopathies, or a combination of both; however, scoliosis has rarely been reported. We analyzed a Chinese pedigree with two members suffering from scoliosis.
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