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The Role of Steroidal Hormones on the Cutaneous Manifestations in Neurofibromatosis Type 1 (NF1): A Systematic Review.
J Cutan Med Surg
January 2025
Division of Dermatology, McGill University, Montreal, QC, Canada.
A multicenter study of neurofibromatosis type 1 utilizing deep learning for whole body tumor identification.
NPJ Digit Med
January 2025
Neurofibromatosis Type 1 Center and Laboratory for Neurofibromatosis Type 1 Research, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200011, China.
Deep-learning models have shown promise in differentiating between benign and malignant lesions. Previous studies have primarily focused on specific anatomical regions, overlooking tumors occurring throughout the body with highly heterogeneous whole-body backgrounds. Using neurofibromatosis type 1 (NF1) as an example, this study developed highly accurate MRI-based deep-learning models for the early automated screening of malignant peripheral nerve sheath tumors (MPNSTs) against complex whole-body background.
View Article and Find Full Text PDFSuccessful Management of Thyrocervical Trunk Aneurysm Ruptured into the Thoracic Cavity After Cesarean Section in Nonstable Patient with Neurofibromatosis Type I.
Medicina (Kaunas)
December 2024
Department of Pharmacy, Faculty of Medical Sciences, University of Kragujevac, 34000 Kragujevac, Serbia.
Rupture of the thyrocervical trunk aneurysm into the thoracic cavity does not occur very often. It is an urgent condition due to hemorrhagic shock by massive hemothorax with potentially fatal consequences. Pregnancy and puerperium are additional risk factors for a rupture of the thyrocervical trunk aneurysm in patients with neurofibromatosis and aneurysms.
View Article and Find Full Text PDFA Mixed Methods Study of Medication Adherence in Adults with Neurofibromatosis Type 1 (NF1) on a Clinical Trial of Selumetinib.
Cancers (Basel)
January 2025
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, 9030 Old Georgetown Road, Bethesda, MD 20892-8200, USA.
Background: Oral therapeutic options for plexiform neurofibromas (PNs) in individuals with neurofibromatosis type 1 (NF1) are receiving attention in clinical research. The MEK inhibitor (MEKi) Selumetinib is FDA-approved in children ages 2+ years with inoperable PNs, and shows activity in adults. Prolonged therapy with selumetinib is necessary to maintain tumor reduction.
View Article and Find Full Text PDFIncreased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study.
Biomedicines
January 2025
Department of Pediatric Dermatology, Heim Pal National Pediatric Institute, 1089 Budapest, Hungary.
Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the gene. Although genotype-phenotype correlation studies are increasing, robust clinically relevant correlations have remained limited. We conducted a retrospective analysis of data obtained from a cohort of 204 Hungarian individuals, with a mean age of 16 years (age range: 1-33 years).
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