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High-Grade Astrocytoma With Piloid Features.
Arch Pathol Lab Med
January 2025
From the Department of Pathology, University of Michigan Medical School, Ann Arbor.
Context.—: High-grade astrocytoma with piloid features (HGAP) is a newly recognized glioma defined by its methylation profile. Understanding of its clinical, histologic, and molecular characteristics continues to evolve.
View Article and Find Full Text PDFInternalizing and externalizing symptoms in individuals with neurofibromatosis type 1: a systematic review and meta-analysis.
Syst Rev
January 2025
Department of Behavioral Sciences and Social Medicine, College of Medicine, Florida State University, 1115 West Call Street, Tallahassee, FL, 32306-4300, USA.
Background: Individuals with neurofibromatosis type 1 (NF1) frequently report psychosocial problems, among which internalizing and externalizing symptoms are the most poorly understood due to limited research and inconsistent evidence. This hinders the overall attendance of their psychosocial needs and has a major impact on their quality of life. Thus, this systematic review and meta-analysis was conducted to synthesize existing findings on the degree to which individuals with NF1 experience internalizing and externalizing symptoms, compared with the unaffected population, and explore moderators of the group disparities.
View Article and Find Full Text PDFAllosteric modulation of NF1 GAP: Differential distributions of catalytically competent populations in loss-of-function and gain-of-function mutants.
Protein Sci
February 2025
Computational Structural Biology Section, Frederick National Laboratory for Cancer Research in the Cancer Innovation Laboratory, National Cancer Institute, Frederick, Maryland, USA.
Neurofibromin (NF1), a Ras GTPase-activating protein (GAP), catalyzes Ras-mediated GTP hydrolysis and thereby negatively regulates the Ras/MAPK pathway. NF1 mutations can cause neurofibromatosis type 1 manifesting tumors, and neurodevelopmental disorders. Exactly how the missense mutations in the GAP-related domain of NF1 (NF1) allosterically impact NF1 GAP to promote these distinct pathologies is unclear.
View Article and Find Full Text PDFIdiopathic Optic Nerve Glioma: A Case Report.
Cureus
December 2024
Department of Ophthalmology, Dr. D. Y. Patil Medical College, Hospital and Research Centre, Pune, IND.
Optic nerve gliomas are tumors that develop along the optic nerve pathway, most often classified as pilocytic astrocytomas. These growths are typically benign, especially in young children between the ages of one and six years, while the rarer malignant types are generally more aggressive and tend to appear in adults. Characteristically slow-growing, optic nerve gliomas are commonly located in the pre-chiasmal part of the optic nerve but can extend to post-chiasmal regions and into the brain if left untreated.
View Article and Find Full Text PDFOptic nerve glioma successfully treated with definitive intensity-modulated radiotherapy in a limited-resource setting: a case report.
Ecancermedicalscience
November 2024
National Centre for Radiotherapy, Oncology and Nuclear Medicine, Korle Bu Teaching Hospital, Accra, Ghana.
Optic nerve gliomas (ONG) are benign central nervous system tumours and the most common tumours of the optic nerve in children, often occurring before age 20. These tumours are slow-growing and can be treated with surgery and/or radiation therapy. Surgical resection is, however, associated with significant morbidity and loss of vision in the affected eye.
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