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A novel POT1-TPD presentation: A germline pathogenic POT1 variant discovered in a patient with newly diagnosed posterior fossa ependymoma.
Cancer Genet
January 2025
Cincinnati Children's Hospital Medical Center, Division of Oncology, Cincinnati, OH, USA; University of Cincinnati College of Medicine, Cincinnati, OH, USA. Electronic address:
Introduction: POT1 tumor predisposition (POT1-TPD) is an autosomal dominant disorder characterized by increased lifetime malignancy risk. Melanoma, angiosarcoma, and chronic lymphocytic leukemia are the most frequently reported malignancies [1]. Protection of telomeres protein 1 (POT1) is part of the shelterin protein complex to maintain/protect telomeres [2].
View Article and Find Full Text PDFDiagnostic Errors in the Acutely Dizzy Patient-Lessons Learned.
Brain Sci
January 2025
Department of Neurology, National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
Acute vertigo or dizziness is a frequent presentation to the emergency department (ED), making up between 2.1% and 4.4% of all consultations.
View Article and Find Full Text PDFOptokinetic After-Nystagmus: A Marker for Migraine? A Prospective Observational Study.
J Otolaryngol Head Neck Surg
January 2025
Département d'ORL du CHUS, Université de Sherbrooke, Sherbrooke, Quebec, Canada.
Introduction: Vestibular migraine (VM), particularly its chronic variant, poses a diagnostic challenge. Patients suffering from VM may not have the characteristic headaches associated with the dizziness. In these cases, a marker for migraine pathology in general could help appropriately diagnose certain types of dizziness as migrainous despite these patients not meeting current diagnostic criteria for VM.
View Article and Find Full Text PDFAn Invasive Solitary Fibrous Tumor/Hemangiopericytoma Originating From the Falx: A Case Report.
Cureus
December 2024
Neurosurgery, Npistanbul Brain Hospital, Istanbul, TUR.
Intracranial solitary fibrous tumors (SFTs) and hemangiopericytomas (HPCs) are rare, aggressive tumors typically found along the dural sinuses. Despite their aggressive nature, complete surgical resection remains the most significant factor in reducing recurrence and improving survival. Here, we present the case of a 32-year-old male patient who presented with a new-onset headache and vertigo.
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