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Phenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.

Genes (Basel)

September 2024

Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Key Laboratory of Ophthalmology and Visual Sciences, No.1 Dongjiaominxiang, Beijing 100730, China.

Article Synopsis
  • - The study investigated the relationship between genetic factors and the phenotype of retinal hemangioblastomas (RH) in a Chinese group of 51 individuals, using advanced genetic testing methods to identify mutations in the Von Hippel-Lindau (VHL) gene.
  • - Out of the participants, 36 were diagnosed with VHL syndrome, showing a younger median age of onset, while 15 were excluded from this diagnosis; four novel genetic variants were found, alongside established mutation hotspots.
  • - The classification of RH types showed a predominance of extrapapillary lesions in the peripheral retina, and high frequencies of both major genomic deletions and CNS hemangioblastomas in affected families suggest that RH may be an early warning sign for
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Hemangioblastoma, also known as capillary hemangioblastoma, is a rare benign mesenchymal tumor commonly found in the central nervous system (CNS). It can also manifest in various organs, including the kidney. Renal hemangioblastoma (RH) is often associated with Von Hippel-Lindau (VHL) disease, but sporadic occurrences are observed infrequently.

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Magnetic Resonance Imaging Evaluation of Common Spinal Intramedullary Tumours: Ependymoma and Astrocytoma.

Mymensingh Med J

July 2023

Dr Nasim Sultana, Associate Professor, Department of Radiology and Imaging, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh; E-mail:

This cross-sectional study was carried out in the Department of Radiology and Imaging, Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh, from January 2015 to June 2016 in collaboration with Department of Neurosurgery and Department of Pathology of same hospital, to assess MRI findings of common IMSCTs and to find out the validity of MRI in the diagnosis of spinal ependymoma and astrocytoma, thereby differentiating these two common intramedullary entities. For this purpose, 40 patients aged from 15 to 60 years, who were diagnosed or suspected cases of having intramedullary spinal cord tumours were enrolled. These patients underwent preoperative MRI for evaluation of the spinal cord tumours during the study period in department of Radiology and Imaging.

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Case report: Hemangioblastoma in the brainstem of a dog.

Front Vet Sci

March 2023

Department of Veterinary Pathobiology, School of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX, United States.

A 3-year-old castrated male, American Pit Bull Terrier presented to Texas A&M University due to a 3-week mixed cerebellar and general proprioceptive ataxia, circling, head tilt, and dull mentation. Neurologic examination revealed signs of vestibular and mesencephalic dysfunction. Postmortem examination revealed a 1.

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Objective: Neuroendoscopic resection supracerebellar infratentorial (SCIT) approach is adequate for some indicated pineal region tumors with the natural infratentorial corridor. We described this full endoscopic approach through a modified 'head-up' park-bench position to facilitate the procedure.

Methods: We reviewed the clinical and radiological data of four patients with pineal region lesions who underwent pure endoscopic tumor resection through the SCIT approach with this modified position.

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