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  1. Article ; Online: Belzutifan-induced regression of retinal capillary hemangioblastoma: A case-series.

    Ercanbrack, Carson W / Elhusseiny, Abdelrahman M / Sanders, Riley N / Santos Horta, Erika / Uwaydat, Sami H

    American journal of ophthalmology case reports

    2024  Volume 33, Page(s) 102011

    Abstract: Purpose: To report a series of three patients with von Hippel-Lindau (VHL) disease who demonstrated regression of their retinal hemangioblastomas (RH) using belzutifan in conjunction with photocoagulation therapy.: Observations: Patient 1, a 23-year- ... ...

    Abstract Purpose: To report a series of three patients with von Hippel-Lindau (VHL) disease who demonstrated regression of their retinal hemangioblastomas (RH) using belzutifan in conjunction with photocoagulation therapy.
    Observations: Patient 1, a 23-year-old female, presented with multiple RHs in her right eye (OD) that were lasered. Her left eye (OS) revealed a large inferotemporal RH that measured approximately 2.1 mm
    Conclusions: Belzutifan, a hypoxia-inducible factor inhibitor, is an FDA-approved medication for VHL disease associated with renal cell carcinoma, central nervous system hemangioblastomas, or pancreatic neuroendocrine tumors that do not require immediate surgical resection. Because of the high incidence of VHL-associated RHs, adjuvant laser photocoagulation therapy when belzutifan is suspended or withheld can allow for the regression of large lesions. In this case series, we also propose a reproducible and technically simple method to measure RH lesions size, using Optos fundus imaging.
    Language English
    Publishing date 2024-02-10
    Publishing country United States
    Document type Case Reports
    ISSN 2451-9936
    ISSN (online) 2451-9936
    DOI 10.1016/j.ajoc.2024.102011
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Diffuse Leptomeningeal Glioneuronal Tumor: First Description of Metastasis to the Lung and Bone Marrow.

    Battini, Sahithi / Gokden, Murat / Palys, Viktoras / Santos Horta, Erika

    Cureus

    2023  Volume 15, Issue 11, Page(s) e48185

    Abstract: Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare neoplasm of the central nervous system (CNS) that primarily affects the leptomeninges. However, it can also involve the brain parenchyma and spinal cord. We report the first case of metastasis ... ...

    Abstract Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare neoplasm of the central nervous system (CNS) that primarily affects the leptomeninges. However, it can also involve the brain parenchyma and spinal cord. We report the first case of metastasis of this primary CNS tumor to the lung and bone marrow. An 18-year-old male was diagnosed with DLGNT through meningeal biopsy after multiple events of transient neurologic signs and symptoms that included recurrent episodes of encephalopathy, seizures, cerebral vasospasms, cranial nerve palsy, and urinary dysfunction. Five months after diagnosis, the patient presented with pancytopenia and pulmonary effusion. At that time, he was being treated with temozolomide, after radiation treatment to the brain and spinal cord. Bone marrow biopsy and pleural cytology revealed systemic metastases from the primary CNS tumor. He was then treated with chemotherapy with carboplatin and vincristine which improved his condition for two and a half months. Unfortunately, the patient died of a high systemic metastatic burden. Primary CNS tumors rarely produce systemic metastases, and this is the first report of DLGNT with bone marrow and pulmonary metastases. Chemotherapy with carboplatin and vincristine should be considered as a treatment for patients with DLGNT, as the patient presented a systemic response with clinical and radiological improvement.
    Language English
    Publishing date 2023-11-02
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.48185
    Database MEDical Literature Analysis and Retrieval System OnLINE

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