Shear-Wave-Elastography in Neurofibromatosis Type I [PDF]
Diagnostics, 2022 Ultrasound shear wave elastography (SWE) is an increasingly used imaging modality that expands clinical ultrasound by measuring the elasticity of various tissues, such as the altered elasticity of tumors.
Deborah Staber +6 more
doaj +7 more sources
Characteristics of Café-au-lait Macules and their Association with the Neurofibromatosis type I Genotype in a Cohort of Greek Children [PDF]
Acta Dermato-Venereologica, 2023 Cafe-au-lait macules are the most distinctive clinical finding in neurofibromatosis type I. The aim of this prospective study of Greek children diagnosed with neurofibromatosis type I was to describe the dermatological phenotype and to analyse the ...
Lamprini Nasi +10 more
doaj +3 more sources
Mutation-Directed Therapeutics for Neurofibromatosis Type I [PDF]
Molecular Therapy: Nucleic Acids, 2020 Significant advances in biotechnology have led to the development of a number of different mutation-directed therapies. Some of these techniques have matured to a level that has allowed testing in clinical trials, but few have made it to approval by drug-
Andre Leier +11 more
doaj +4 more sources
The GIST of It: A Rare Presentation of Neurofibromatosis Type I. [PDF]
Cureus, 2021 Neurofibromatosis-1 (NF-1) is an autosomal dominant condition characterized by cutaneous pigmentation and tumour formation along nerves in the brain, skin, and other organs. Gastrointestinal stromal tumours (GIST) are rare mesenchymal tumours involving the gastrointestinal tract (GI) associated with NF-1.
Hudgi AR +4 more
europepmc +4 more sources
Histoplasmosis mimicking a tumor of the thumb in a patient with neurofibromatosis type I: A case report and review of the literature. [PDF]
Clin Case Rep, 2023 We describe an immunocompromised 73‐year‐old male with a history of neurofibromatosis type 1 (NF1) who presented with a lesion on the thumb concerning for malignancy that was found to be histoplasmosis.
Levine JM, Manivel J, Luna J.
europepmc +2 more sources
Rapid airway stenosis due to ruptured occipital artery in a patient with neurofibromatosis type I. [PDF]
Acute Med Surg, 2023 Neurofibromatosis type I is rarely associated with vascular abnormalities. Here, we report a case of rapid airway stenosis caused by a ruptured occipital artery that was treated with surgical airway management.
Ando H +7 more
europepmc +2 more sources
Targeted exon skipping of <i>NF1</i> exon 17 as a therapeutic for neurofibromatosis type I. [PDF]
Mol Ther Nucleic Acids, 2022 We investigated the feasibility of utilizing an exon-skipping approach as a genotype-dependent therapeutic for neurofibromatosis type 1 (NF1) by determining which NF1 exons might be skipped while maintaining neurofibromin protein expression and GTPase ...
Leier A +15 more
europepmc +2 more sources
Neurofibromatosis Type I and Hodgkin Lymphoma: Case Report and Review of the Literature. [PDF]
Turk Arch Pediatr, 2022 Objective: Neurofibromatosis 1 is an autosomal dominant inherited tumor susceptibility syndrome. Individuals with neurofibromatosis 1 have a 4-5 times increased risk of malignancy compared to the general population. Central nervous system and soft tissue
Yıldırım ÜM, Kebudi R.
europepmc +2 more sources
A Case of Multiple Perineuriomas in the Colon With Underlying Neurofibromatosis Type I. [PDF]
ACG Case Rep J, 2021 A 45-year-old woman was referred to us after a positive fecal occult blood test. Colonoscopy revealed a 20-mm polyp in the transverse colon and a 10-mm polyp in the sigmoid colon. Endoscopic mucosal resection was performed as a diagnostic treatment. Both
Tsuchiya T +5 more
europepmc +2 more sources
Survival outcomes of malignant peripheral nerve sheath tumors (MPNSTs) with and without neurofibromatosis type I (NF1): a meta-analysis. [PDF]
World J Surg OncolMalignant peripheral nerve sheath tumors (MPNSTs) are malignancies that demonstrate nerve sheath differentiation in the peripheral nervous system. They can occur sporadically or be associated with neurofibromatosis type 1 (NF1), an autosomal dominant ...
Lim Z, Gu TY, Tai BC, Puhaindran ME.
europepmc +2 more sources