Results 61 to 70 of about 21,253 (159)

Silver Nanoparticles Selectively Treat Neurofibromatosis Type 1-Associated Plexiform Neurofibroma Cells at Doses That Do Not Affect Patient-Matched Schwann Cells

Pharmaceutics
Neurofibromatosis Type 1 (NF1) is a common neurogenic condition characterized by heterozygous loss of function mutations in the neurofibromin gene. NF1 patients are susceptible to the development of neurofibromas, including plexiform neurofibromas (pNFs),
Bashnona Attiah, Garrett Alewine, Mary-Kate Easter, Robert A. Coover, Cale D. Fahrenholtz   +4 more
doaj   +1 more source

Clinical and molecular features of primary gliosarcoma with digital spatial whole‐transcriptome analysis of glial and mesenchymal components

Brain Pathology, EarlyView.
We report the clinical and genetic features of an institutional cohort of primary adult gliosarcomas compared to glioblastoma. We performed spatial whole‐transcriptome analysis on glial and sarcomatous regions of four cases to compare gene expression profiles and validated differential protein expression for two markers in tissue sections.
Matthew D. Wood, Gabriel Zangirolani, Jinho Lee, Melanie H. Hakar, Tanaya Neff, Kevin Y. Zhang, Christopher L. Corless   +6 more
wiley   +1 more source

Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia – a first case report

BMC Pediatrics, 2023
Background Neurofibromatosis type 1 and pseudoachondroplasia are both rare autosomal dominant disorders, caused by pathogenic mutations in NF1 and COMP genes, respectively.
Sára Pálla, Pálma Anker, Klára Farkas, Dóra Plázár, Sándor Kiss, Péter Marschalkó, Zsuzsanna Szalai, Judit Bene, Kinga Hadzsiev, Zoltán Maróti, Tibor Kalmár, Márta Medvecz   +11 more
doaj   +1 more source

MR‐Guided Laser Interstitial Thermal Therapy for Recurrent Glioblastoma: A Case Report With Novel Insights Into Histopathological Changes and Immunological Responses

Neuropathology and Applied Neurobiology, Volume 52, Issue 2, April 2026.
MR‐guided laser interstitial thermal therapy (LITT) offers a minimally invasive option for recurrent glioblastoma, but human post‐treatment tissue data are scarce. In this case report, post‐LITT tissue exhibited distinct zonal changes, including central necrosis within the ablation zone and reduced tumour proliferation with increased CD8+ T‐cell ...
Silas Haahr Nielsen, Sara Blaabjerg Artzi, Jane Skjøth‐Rasmussen, Carl Christian Larsen, Nadine Margaretha Hammouda, Karen Bonde Larsen, Rune Rasmussen, Adam Espe Hansen, Bjarne Winther Kristensen   +8 more
wiley   +1 more source

Breathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Malignant peripheral nerve sheath tumors (MPNSTs) can rarely present as anterior mediastinal masses in patients with neurofibromatosis type 1 (NF1), causing respiratory symptoms and diagnostic challenges. Multidisciplinary evaluation, including biopsy and imaging, is essential for diagnosis, with surgical resection as the primary treatment ...
Muhammad Hassan Raza, Hamza Asif, Sadia Anjum, Zaira Shahid, Moosa Mubarika, Abdulsattar Anjum, Hassan Abdullah Shakeel, Rejina Chhetri, Muneeb Khawar   +8 more
wiley   +1 more source

Jejunal gastrointestinal stromal tumor that developed in a patient with neurofibromatosis type 1: a case report

Diagnostic Pathology, 2023
Background Neurofibromatosis type 1 (NF1) is known to be associated with the frequent occurrence of unique gastrointestinal stromal tumors (GISTs), preferably occurring in the small intestine, with no mutations in the c-kit proto-oncogene or platelet ...
Hideki Nagano, Shigekazu Ohyama, Atsushi Sato, Jun Igarashi, Tomoko Yamamoto, Masumi Kadoya, Mikiko Kobayashi   +6 more
doaj   +1 more source

Pheochromocytoma With Langerhans Cell Histiocytosis: A Rare Tumor‐in‐Tumor Case

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Langerhans cell histiocytosis (LCH) occurring in a Pheochromocytoma in the adrenal gland is exceptionally rare and prone to misdiagnosis. The special coexistent tumors harbor distinct genetic mutations. This uncommon case could introduce novel considerations and a strong teaching message to all the clinicians and pathologists.
Cheng Lei, Yulong Guo, Yixin Luo, Qingchun Liang, Jiadi Luo   +4 more
wiley   +1 more source

Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Balkan Journal of Medical Genetics, 2022
Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of de ...
Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M   +3 more
doaj   +1 more source

Behavioral and Sleep Disorders in Neurofibromatosis

Pediatric Neurology Briefs, 2005
The behavior and sleep patterns of 64 children (mean age 10 years 7 months) with neurofibromatosis type 1 (NF1) were determined by mail and telephone questionnaire in a study at Park Hospital, University of Oxford, UK.
J Gordon Millichap
doaj   +1 more source

Apolipoprotein E Deficiency Impairs Human Microglial Proliferation Accompanied by Elevated Cellular Oxidative Stress

Journal of Cellular and Molecular Medicine, Volume 30, Issue 6, March 2026.
ABSTRACT The APOE gene, which encodes Apolipoprotein E (ApoE), is the strongest genetic risk locus for Alzheimer's disease (AD). A substantial fraction of AD risk genes converges on pathways controlling lipid metabolism and immune regulation, in which microglia serve as a central integrative hub in the brain.
Dayoung Kim, Takayuki Kondo, Keiko Imamura, Kayoko Tsukita, Ayako Nagahashi, Tomoki Sakasai, Haruhisa Inoue   +6 more
wiley   +1 more source