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Two Different Pathogenic Variants in a Family With Neurofibromatosis Type 1.
Cancer Genomics Proteomics
December 2024
Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Background/aim: Neurofibromatosis type 1 (NF1) is a genetic disorder with an incidence of approximately one in 3,000. More than half of the patients have new de novo pathogenic variants of the NF1 gene. In most family cases, all family members share an identical NF1-variant.
View Article and Find Full Text PDFDiscrimination of benign, atypical, and malignant peripheral nerve sheath tumours in neurofibromatosis type 1 - intraindividual comparison of positron emission computed tomography and diffusion-weighted magnetic resonance imaging.
EJNMMI Res
December 2024
Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße 52, 20246, Hamburg, Germany.
Background: To intraindividually compare the diagnostic performance of positron emission computed tomography (F-18-FDG-PET/CT) and diffusion-weighted magnetic resonance imaging (DW-MRI) in a non-inferiority design for the discrimination of peripheral nerve sheath tumours as benign (BPNST), atypical (ANF), or malignant (MPNST) in patients with neurofibromatosis type 1 (NF1).
Results: In this prospective single-centre study, thirty-four NF1 patients (18 male; 30 ± 11 years) underwent F-18-FDG-PET/CT and multi-b-value DW-MRI (11 b-values 0 - 800 s/mm²) at 3T. Sixty-six lesions corresponding to 39 BPNST, 11 ANF, and 16 MPNST were evaluated.
Challenges in the Management of a Calvarial Defect in an NF1-Patient.
Diseases
December 2024
The Leo M. Davidoff Department of Neurological Surgery, Albert Einstein College of Medicine, Montefiore Medical Center, Bronx, NY 10467, USA.
Background: Calvarial defects in NF1 are rare and lack standardized management guidelines. This study seeks to shed light on calvarial defects in NF1 patients with extensive skull erosion.
Methods: This case report focuses on clinical and radiological presentations and surgical interventions during six years of follow-up, comparing the results with those in the literature.
Extracranial Vertebral Artery Aneurysm With Neurofibromatosis Type 1: The Effectiveness of Endovascular Intervention.
Cureus
November 2024
Neurosurgery, Shimane University Hospital, Izumo, JPN.
Neurofibromatosis type 1 (NF-1) is associated with vascular complications, including stenosis or the occlusion of the abdominal aorta and renal arteries. However, reports on the occurrence of extracranial vertebral artery aneurysms are scarce. A man in his 40s had back pain and was feeling unwell.
View Article and Find Full Text PDFClinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.
Eur J Pediatr
December 2024
Department of Medical Genetics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Unlabelled: The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies.
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