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Optic 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.
View Article and Find Full Text PDFJaffe-Campanacci Syndrome: A Case Report and Review of the Literature.
Cureus
December 2024
Orthopedics and Traumatology, Ondokuz Mayis University, Samsun, TUR.
Jaffe-Campanacci syndrome (JCS) is a rare disorder characterized by multiple non-ossifying fibromas (NOFs), café-au-lait spots, and other features such as mental retardation and cryptorchidism. It is often clinically and genetically similar to neurofibromatosis type 1 (NF1), complicating diagnosis. This report presents a 17-year-old male with right knee pain, café-au-lait spots, and axillary freckling.
View Article and Find Full Text PDFVertebral Column Subluxation in Neurofibromatosis Type 1-Associated Dystrophic Scoliosis: A Report of Two Cases and Narrative Review.
Oper Neurosurg (Hagerstown)
September 2024
Department of Neurosurgery, New York University, New York, New York, USA.
Background And Objective: Neurofibromatosis-1 (NF1) dystrophic scoliosis is a challenging disease to manage surgically, with multiplanar curves progressing rapidly and unpredictably. Conservative management with bracing is often unsuccessful, and many patients necessitate instrumented fusion to halt progression of their curves. In rare cases, patients can present with spontaneous vertebral subluxation, significantly complicating the surgical management of this already complex disease process.
View Article and Find Full Text PDFDiagnosis and treatment of pediatric arterial stenosis associated with neurofibromatosis type 1.
BMC Pediatr
January 2025
Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56, Nanlishi Road, Beijing, 100045, China.
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting multiple systems. However, arterial stenosis is a rare manifestation in patients with NF1. Since the symptoms of arterial stenosis caused by NF1 are often atypical and have a high under-diagnosis rate, this can lead to serious complications such as hypertension, ischemic stroke, or even death.
View Article and Find Full Text PDFHydroxychloroquine prevents resistance and potentiates the antitumor effect of SHP2 inhibition in NF1-associated malignant peripheral nerve sheath tumors.
Proc Natl Acad Sci U S A
January 2025
Cancer Biology & Genetics Program, Sloan Kettering Institute, New York, NY 10065.
Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive sarcomas and the primary cause of mortality in patients with neurofibromatosis type 1 (NF1). These malignancies develop within preexisting benign lesions called plexiform neurofibromas (PNs). PNs are solely driven by biallelic loss eliciting RAS pathway activation, and they respond favorably to MEK inhibitor therapy.
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