Results 61 to 70 of about 1,633 (148)

Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting

Egyptian Journal of Medical Human Genetics, 2022
Background Von Hippel–Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in VHL gene. It is characterized by the formation of benign and malignant tumors like retinal angioma, cerebellar hemangioblastoma, spinal hemangioblastoma ...
Aradhana Dwivedi, Amita Moirangthem, Himani Pandey, Pankaj Sharma, Priyanka Srivastava, Prabhaker Yadav, Deepti Saxena, Shubha Phadke, Preeti Dabadghao, Neerja Gupta, Madhulika Kabra, Rekha Goyal, Rituparna Biswas, Swayamsidha Mangaraj, Debarati Bhar, Subhankar Chowdhury, Amit Agarwal, Kausik Mandal   +17 more
doaj   +1 more source

Successful Management of a Solitary Retinal Capillary Hemangioblastoma in a Stepwise Approach

Delhi Journal of Ophthalmology
Retinal capillary hemangioblastoma (RCH) is a vascular tumor often associated with Von Hippel–Lindau disease. Solitary RCHs are rare. We report a case of an adolescent boy with sporadic solitary RCH presenting with RCH-associated exudative retinal ...
Shruti Nair, Goutham Rajasekar, Shreyas Temkar, Amit Kumar Deb   +3 more
doaj   +1 more source

Comprehensive treatment of von Hippel‐Lindau disease: A case report

Cancer Innovation, Volume 3, Issue 2, April 2024.
Mechanisms of therapeutic strategies for von Hippel‐Lindau (VHL) disease are discussed. Sorafenib and tislelizumab exhibited the ability of anti‐VHL disease by targeting mutation of VHL‐induced oncogenes expression including vascular endothelial growth factor receptors, platelet‐derived growth factor receptors, and blocking PD‐1/PD‐L1 pathway ...
Xuesong Li, Zheng Mo, Zhuo Yu
wiley   +1 more source

Von Hippel-Lindau Syndrome: Diagnosis and Management of Hemangioblastoma and Pheochromocytoma

Case Reports in Urology, 2013
Introduction. Von Hippel-Lindau (VHL) syndrome is a pathological condition that causes various clinical symptoms and is difficult to diagnose. The most common pathological lesions are hemangioblastomas of the central nervous system, retinal angiomas ...
P. Vaganovs, K. Bokums, E. Miklaševics, J. Plonis, L. Zarina, I. Geldners, J. Gardovskis, E. Vjaters   +7 more
doaj   +1 more source

Single‐cell transcriptomics and metabolomic analysis reveal adenosine‐derived metabolites over‐representation in pseudohypoxic neuroendocrine tumours

Clinical and Translational Medicine, Volume 15, Issue 2, February 2025.
Yuval Kahan Yossef, Liav Sela Peremen, Alona Telerman, Gil Goldinger, Sergey Malitsky, Maxim Itkin, Reut Halperin, Naama Peshes Yaloz, Amit Tirosh   +8 more
wiley   +1 more source

Trans-scleral cryotherapy in the management of retinal hemangioblastomas. [PDF]

Graefes Arch Clin Exp Ophthalmol
Abstract Purpose To evaluate the efficacy of trans-scleral retinal cryotherapy in the management of retinal hemangioblastoma (RH) including in von Hippel Lindau disease (VHL). Methods Retrospective cohort study of 24 ...
Broadhead GK, Wiley HE, Agrón E, Dao D, Chew EY, Coleman H, Thavikulwat AT.   +6 more
europepmc   +2 more sources

Unveiling a TGFBI Variant in the Retinal Capillary Hemangioblastoma, Type II Granular Corneal Dystrophy, and Von Hippel–Lindau Families: Unlocking Potential for Early Intervention and Targeted Therapy

Journal of Current Ophthalmology
Purpose: To identify the potential genetic factors responsible for retinal capillary hemangioblastoma (RCH) and Type II granular corneal dystrophy (GCDII), with autosomal dominant inheritance.
Fatemeh Azimi, Golnaz Khakpour, Ahad Sedaghat, Fatemeh Mostafaiee, Hengameh Kasraei, Masood Naseripour   +5 more
doaj   +1 more source

A Case of Von Hippel-Lindau Disease Presented with Multiple Pancreatic Cysts and Medullary Hemangioblastoma

Clinical Pediatric Hematology-Oncology, 2020
Von Hippel-Lindau (VHL) disease is a rare inherited cancer predisposition syndrome characterized by benign and malignant tumors in multiple organs, especially cerebellar hemangioblastomas, retinal angiomas, renal-cell carcinoma, and pheochromocytomas ...
Young Hyun Kim, Hye Lim Jung, Aram Yang, Ji Hee Kwak, Deok Soo Kim, Jung Yeon Shim, Jae Won Shim   +6 more
doaj   +1 more source

Early surgical treatment of retinal haemangioblastomas: 10‐year follow‐up

Acta Ophthalmologica, Volume 102, Issue 7, Page 836-842, November 2024.
Koen A. van Overdam, Marc Veckeneer, Anass Hajjaj, Emine Kilic, Jennifer S. N. Verhoekx   +4 more
wiley   +1 more source

Role of optical coherence tomography angiography in retinal tumors: A narrative review

Indian Journal of Ophthalmology
Intraocular tumors constitute a small subset of cases in ophthalmologic practice. Proper diagnosis of intraocular tumors is crucial because some pose threat to vision and life, while others may indicate underlying systemic disorders.
Mahesh P Shanmugam, Sriram Simakurthy, Devashish Dubey, Vinaya Kumar Konana, Pradeep Sagar, Rajesh Ramanjulu, Shwetha Suryakanth   +6 more
doaj   +1 more source