Zobrazeno 1 - 10
of 763
pro vyhledávání: '"von hippel–lindau syndrome"'
Autor:
Nurhuda Hendra Setyawan, MD, M.Sc, Rachmat Andi Hartanto, MD, Rusdy Ghazali Malueka, MD, Ph.D, Ery Kus Dwianingsih, MD, Ph.D, Dito Pondra Dharma, MD
Publikováno v:
Radiology Case Reports, Vol 19, Iss 11, Pp 5000-5006 (2024)
Hemangioblastomas are rare, benign, and highly vascular tumors of the central nervous system, often associated with von Hippel-Lindau (VHL) syndrome, an autosomal dominant disorder characterized by multiple tumors. We present a case of a 32-year-old
Externí odkaz:
https://doaj.org/article/716eb6eee029495db9ec8afb92b98750
Autor:
YAN Xinchun, HUO Li
Publikováno v:
Xiehe Yixue Zazhi, Vol 15, Iss 4, Pp 911-915 (2024)
VHL (von Hipple-Lindau) syndrome is a rare autosomal dominant genetic disease with complex and diverse clinical manifestations, which primarily presents as multiple tumors in the retina, central nervous system, kidneys, pancreas, and other areas. Pat
Externí odkaz:
https://doaj.org/article/ce0993c422064ac0aff8d18488cc4450
Autor:
Hussein Alhawari, Zaina Obeidat, Lina Wahbeh, Ayman Mismar, Nedal Younis, Hanan Jafar, Munther Momani, Nedal Alsabatin, Abdalla Awidi, Hussam Alhawari
Publikováno v:
Blood Pressure, Vol 33, Iss 1 (2024)
Introduction Von Hippel-Lindau disease (e.g. VHL) is an autosomal dominant multi-organ cancer syndrome caused by a mutation in the VHL tumour suppressor gene. In this study, we introduce a novel genetic variant found in 11 family members diagnosed in
Externí odkaz:
https://doaj.org/article/6a2b2df3baee41928ff35bf15282277b
Autor:
Yao Wang, Qing Zhu, Ailin Chen, Chungang Dai, Longjiang Xu, Minfeng Sheng, Qiang Huang, Qing Lan, Qingchun Mu, Rujun Li
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
IntroductionThe incidence of hemangioblastoma is low, constituting only 1-5% of all spinal cord tumors. Specifically, intradural extramedullary hemangioblastoma without Von Hippel-Lindau syndrome represents an exceedingly rare condition.MethodsWe rep
Externí odkaz:
https://doaj.org/article/d13e4e9ebee245a39ee3ba5d699192fd
Publikováno v:
Diabetes, Metabolic Syndrome and Obesity, Vol Volume 17, Pp 1611-1619 (2024)
Yanlei Wang,* Zhaoxiang Liu,* Wenhui Zhao, Chenxiang Cao, Luqi Xiao, Jianzhong Xiao Department of Endocrinology, Beijing Tsinghua Changgung Hospital, School of Clinical Medicine, Tsinghua University, Beijing, 102218, People’s Republic of Ch
Externí odkaz:
https://doaj.org/article/4dc897b2617546eab9b839b883c05514
Autor:
Antonio Alejandro Esperón Álvarez, Inés Virginia Noa Hechavarría, Ixchel López Reyes, Teresa Collazo Mesa
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-6 (2024)
Abstract Background Von Hippel-Lindau (VHL) syndrome is an autosomal dominantly inherited disorder that predisposes to multiple neoplasms. Patients may develop hemangioblastomas of the central nervous system and retina, multiple cysts in the pancreas
Externí odkaz:
https://doaj.org/article/e7c46c747fb44a9d834bb6caef3cb0ae
AN UNCOMMON CASE OF FILUM TERMINALE HEMANGIOBLASTOMA NON-ASSOCIATED WITH VON HIPPEL – LINDAU DISEASE
Publikováno v:
Journal of IMAB, Vol 29, Iss 4, Pp 5236-5239 (2023)
A 55-year-old man presented with low backache, paraesthesia, and spasticity of both lower limbs. He had urinary retention and constipation. Investigations revealed a vascular intradural cauda equina tumor. MRI scan demonstrated an enhancing mass at
Externí odkaz:
https://doaj.org/article/285d8c3073854757b4b415be94e2114d
Publikováno v:
Frontiers in Oncology, Vol 14 (2024)
BackgroundVon-Hipple Lindau syndrome is an uncommon autosomal dominant disorder. 17 years ago we diagnosed a young woman with VHL syndrome validated by Sanger sequencing, her family members were genetically tested as well, and 187 healthy people were
Externí odkaz:
https://doaj.org/article/1188ff665bfe4efa9e1fedd3190e3fc9
Autor:
Sevda Dalar
Publikováno v:
Asian Pacific Journal of Cancer Care, Vol 8, Iss 3, Pp 655-657 (2023)
Paragangliomas are neuroendocrine neoplasms. They can be functional or non-functional. Although they can be seen in different localizations, they are rarely seen in the bladder. They may accompany hereditary syndromes. In this case report, a case of
Externí odkaz:
https://doaj.org/article/e3e5be56092942aeb3e6180aa608fdf0
Publikováno v:
罕见病研究, Vol 2, Iss 1, Pp 115-120 (2023)
Von Hippel-Lindau (VHL) syndrome, also known as cerebral retinal angiomatosis, is a kind of neuroendocrine tumor. The incidence rate is high, and the heredity is very high, which can involve the retina, central nervous system, various organs and vari
Externí odkaz:
https://doaj.org/article/ea7261b6efad4c0aa1b19c50a5c09bff