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Ophthalmic Genet
January 2025
Department of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Retinoblastoma (RB) is a common and potentially lethal cancer that primarily affects young children worldwide, with survival rates significantly varying between high- and low-income countries. This review aims to identify essential diagnostic markers for early diagnosis by investigating the molecular pathways associated with RB. The prevalence of RB cases is notably concentrated in Asia and Africa, contributing to a global survival rate estimate of less than 30%.
View Article and Find Full Text PDFNat Commun
January 2025
Oncology Research & Development, Pfizer Inc., San Diego, CA, USA.
To better understand drug resistance mechanisms to CDK4/6 inhibitors and inform precision medicine, we analyze real-world multi-omics data from 400 HR+/HER2- metastatic breast cancer patients treated with CDK4/6 inhibitors plus endocrine therapies, including 200 pre-treatment and 227 post-progression samples. The prevalences of ESR1 and RB1 alterations significantly increase in post-progression samples. Integrative clustering analysis identifies three subgroups harboring different resistance mechanisms: ER driven, ER co-driven and ER independent.
View Article and Find Full Text PDFEur J Hosp Pharm
January 2025
Pharmacy Department, Lausanne University Hospital, Lausanne, Switzerland
Background: Intravitreal and intracameral administration of melphalan and topotecan (TPT) has shown its efficacy in the treatment of retinoblastoma over the last few years. Due to rapid hydrolysis, melphalan must be administered within the hour following reconstitution. With improved stability at room temperature and reduced ocular toxicity, TPT seems to be a promising candidate for production of prefilled syringes in terms of safety and efficiency of preparation and treatment administration.
View Article and Find Full Text PDFJ Biol Chem
January 2025
Fight Against Angiogenesis-Related Blindness (FARB) Laboratory, Clinical Research Institute, Seoul National University Hospital, Seoul, Republic of Korea; Global Excellence Center for Gene & Cell Therapy (GEC-GCT), Seoul National University Hospital, Seoul, Republic of Korea; Department of Biomedical Sciences & Ophthalmology, Seoul National University College of Medicine, Seoul, Republic of Korea; Institute of Reproductive Medicine and Population, Seoul National University College of Medicine, Seoul, Republic of Korea. Electronic address:
Carboplatin resistance in retinoblastoma, an aggressive pediatric intraocular tumor, remains a major clinical challenge in treatment. This study elucidates the role of T-type calcium channels in carboplatin resistance using human retinoblastoma Y79 cells. We generated carboplatin-resistant Y79 (Y79CR) cells and characterized their electrophysiological properties.
View Article and Find Full Text PDFEye (Lond)
January 2025
Retinoblastoma Service, Royal London Hospital, London, UK.
Purpose: To evaluate the efficacy of ultrasound-guided ruthenium (Ru 106) plaque brachytherapy for treatment of exudative retinal detachment in diffuse choroidal haemangioma (DCH).
Methods: Retrospective analysis of four paediatric patients treated with ultrasound-guided Ru 106 plaque brachytherapy for DCH with total exudative retinal detachment directed to the thickest part of the DCH. A dose of 40 Gy to the tumour apex was delivered in all patients.
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