Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/1097-4547(20001215)62:6<755::AID-JNR1>3.0.CO;2-W | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Rasopathies, including Noonan Syndrome (NS) and Neurofibromatosis type 1 (NF1), are developmental disorders caused by germline mutations in genes of the RAS/mitogen-activated protein kinase pathway (RAS-MAPK). This study investigates irritability, a highly prevalent transdiagnostic construct, in children with Rasopathies and the impact of Rasopathy status on the associations between irritability, emotional dysregulation-related disorders, and social skills impairments. The sample comprise 174 children aged 4-17 (age mean = 9.
View Article and Find Full Text PDFSelumetinib in adults with NF1 and inoperable plexiform neurofibroma: a phase 2 trial.
Nat Med
January 2025
Pediatric Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
The MEK inhibitor selumetinib induces objective responses and provides clinical benefit in children with neurofibromatosis type 1 (NF1) and inoperable plexiform neurofibromas (PNs). To evaluate whether similar outcomes were possible in adult patients, in whom PN growth is generally slower than in pediatric patients, we conducted an open-label phase 2 study of selumetinib in adults with NF1 PNs. The study was designed to evaluate objective response rate (primary objective), tumor volumetric responses, patient-reported outcomes and pharmacodynamic effects in PN biopsies.
View Article and Find Full Text PDFAn Atypical Finding of Peripheral Retinal Ischemia and Neovascularization in Neurofibromatosis Type 1: A Case Report.
Cureus
December 2024
Radiology Department, King Khaled Eye Specialist Hospital, Riyadh, SAU.
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic multisystem phakomatosis that can affect the skin, bones, and nervous system. NF1 typically presents with skin lesions, including freckles, café-au-lait macules, plexiform neurofibromas, and bony dysplasia, and is usually accompanied by a family history of the disorder. Ocular manifestations vary, but iris Lisch nodules and optic nerve gliomas are the most common features.
View Article and Find Full Text PDFMalignant Peripheral Nerve Sheath Tumor of the Small Bowel: A Case Report and Review of the Literature.
Cureus
December 2024
Department of Surgical Oncology, General Anticancer and Oncology Hospital of Athens "Saint Savvas", Athens, GRC.
Malignant peripheral nerve sheath tumor (MPNST) is an uncommon type of sarcoma that arises from a peripheral nerve or any tissue with nerve sheath differentiation. It does not have any specific symptoms and shows great variability in clinical and radiological findings. It is usually associated with neurofibromatosis type 1 (NF1).
View Article and Find Full Text PDFSelumetinib for symptomatic, inoperable plexiform neurofibromas in pediatric patients with neurofibromatosis type 1: the first single-center real-world case series in Japan.
Jpn J Clin Oncol
January 2025
Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine, 65-Tsurumai, Showa, Nagoya, 466-8560, Japan.
Objective: In Japan, selumetinib is used in pediatric patients with neurofibromatosis type 1 (NF1) and symptomatic inoperable plexiform neurofibroma (PN). However, there have been no real-world reports on Japanese patients. In this study, we reported a single-center, short-term experience with selumetinib after its approval in Japan.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!