Results 41 to 50 of about 47,993 (230)

Incidental Finding of Isolated Colonic Neurofibroma

Case Reports in Gastroenterology, 2013
Neurofibromatosis is a genetic disorder manifested by characteristic cutaneous lesions called neurofibromas. There are two distinct neurocutaneous syndromes named neurofibromatosis type 1 (also called von Recklinghausen disease or NF1) and ...
Haritha Chelimilla, Chaitanya K. Chandrala, Masooma Niazi, Kavitha Kumbum   +3 more
doaj   +1 more source

Transcriptomic signature of painful human neurofibromatosis type 2 schwannomas

Annals of Clinical and Translational Neurology, 2021
Schwannomas are benign neoplasms that can cause gain‐ and loss‐of‐function neurological phenotypes, including severe, intractable pain. To investigate the molecular mechanisms underlying schwannoma‐associated pain we compared the RNA sequencing profile ...
Phanidhar Kukutla, Sherif G. Ahmed, Daniel M. DuBreuil, Ahmed Abdelnabi, Murat Cetinbas, Giulia Fulci, Berent Aldikacti, Anat Stemmer‐Rachamimov, Scott R. Plotkin, Brian Wainger, Ruslan I. Sadreyev, Gary J. Brenner   +11 more
doaj   +1 more source

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +2 more sources

[Neurofibromatosis type 2]. [PDF]

Nederlands tijdschrift voor geneeskunde, 1997
Neurofibromatosis type 2 (NF2) is a complex and progressively disabling disease, resulting from development of multiple central nervous system tumours. Two case studies, one of a woman who suffered hearing problems from the age of 17 and one of a man with cataract as the first symptom at the age of five, illustrate the complex course of the disease ...
Schimmel, L.J.J.C., Keyser, A.
openaire   +2 more sources

Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]

, 2013
Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M, Ribeiro, MJ, Silva, ED, Violante, IR   +3 more
core   +1 more source

Communicating hydrocephalus and coexisting nonenhancing tumor: An ominous sign for patients with neurofibromatosis type 1?

Radiology Case Reports, 2018
A 26-year-old woman with familial neurofibromatosis type 1 sustained headache that worsened for 1 month. Neuroimaging revealed a mild ventriculomegaly and nonenhancing lesion in the pons. In spite of repeated cerebrospinal fluid examinations and magnetic
Ryo Miyahara, MD, Satoshi Tsutsumi, MD, Satoshi Adachi, MD, Hisato Ishii, MD, Akihide Kondo, MD, Yukimasa Yasumoto, MD   +5 more
doaj   +1 more source

Type-2 Neurofibromatosis Patient with Parasagittal Meningioma: A Challenging Airway

Journal of Neuroanaesthesiology and Critical Care, 2022
The anesthetic management of a type-2 neurofibromatosis patient with a difficult airway is quite challenging. Such a situation tests the limits of the anesthesiologist's preparedness in maintaining the balance of the cerebral protection strategies and ...
Aparna Depuru, Amiya K. Barik, Kiran Jangra, Nidhi B. Panda   +3 more
doaj   +1 more source

Rare triad of periampullary carcinoid, duodenal gastrointestinal stromal tumor and plexiform neurofibroma at hepatic hilum in neurofibromatosis type 1: a case report

BMC Cancer, 2017
Background Neurofibromatosis type 1 is a relatively common inherited disorder. Patients with neurofibromatosis type 1 are at high risk of developing neurogenic, neuroendocrine and mesenchymal intra-abdominal tumors.
Nihed Abdessayed, Rahul Gupta, Sarra Mestiri, Ahlem Bdioui, Mounir Trimech, Moncef Mokni   +5 more
doaj   +1 more source

Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature [PDF]

, 2019
Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations.
Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Abdolrahimzadeh, Amirikia, Anand, Arora, Avery, Barbazetto, Boltshauser, Comi, Comi, Cruciani, Cunha e Sá, Curcio, Fenicia, Ferry, Gass, Giovannini, Gottlieb, Griffiths, Gunduz, Harris, Iwach, Kardon, Kashani, Kaushik, Kissel, Kivela, Kjeka, Kranemann, Lambiase, Lindsey, Linsenmeier, Luke, Madreperla, Mannino, Mantelli, Marana Perez, Maruyama, Muci Mendoza, Nema, Parsa, Patrianakos, Paulus, Pearce, Phelps, Recupero, Riley, Rodriguez Bujaldon, Schirmer, Scott, Scott, Sharan, Shields, Shields, Shin, Shirley, Singh, Sturge, Sujansky, Sullivan, Tanwar, Thomas-Sohl, Waelchli, Walter, Witschel, Wong, Worster Drought, Zallmann, Ziemssen, Zografos, Zografos   +76 more
core   +1 more source

Cerebral venous sinus thrombosis manifesting as chronic spontaneous subdural hematoma: case report and review of the literature

The Egyptian Journal of Neurology, Psychiatry and Neurosurgery
Background Cerebral venous sinus thrombosis (CVST) is a rare form of stroke that is mainly seen in young women. It is frequently associated with hemorrhagic venous infarction and subarachnoid hemorrhage.
Fares Laouar, Yasser Brahmia, Lotfi Boublata   +2 more
doaj   +1 more source