Results 21 to 30 of about 36,792 (224)

Neurofibromatosis type 2 and central neurofibromatosis [PDF]

Neurosurgical Focus, 1998
Neurofibromatosis type 2 (NF2) is a rare disease, affecting only approximately 1000 patients in the entire United States. The diagnosis requires the presence of bilateral acoustic neuromas, but many other tumors of the nervous system are also present. It is a very different disease from von Recklinghausen's neurofibromatosis, NF1.
openaire   +2 more sources

Anaesthetic Management of a Child with Neurofibromatosis Type 2 for Multiple Tumour Decompressions [PDF]

Journal of Clinical and Diagnostic Research, 2013
Neurofibromatosis type 2 is a genetic disorder with autosomal dominant pattern. It can manifest as intracranial, spinal, ocular and cutaneous lesions. The lesions can extend to all the systems.
Geetha Lakshiminarasimhaiah, Aniruddha Thekkatte Jagannatha, Kulyadi Raghavendra Pai, Ravi Gopal Varma, Alangar Satyaranjandas Hegde   +4 more
doaj   +1 more source

Psychiatric symptoms in neurofibromatosis type 2

European Psychiatry, 2021
Introduction Neurofibromatosis type 2 (NF2) is a rare disorder associated with significant morbidity such as hearing loss that can lead to many psychiatric disorders. Objectives Describe the psychiatric symptoms associated to NF2. Methods We report
S. Khouadja, R. Melki, S. Younes, L. Zarrouk   +3 more
doaj   +1 more source

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

Indian Spine Journal, 2019
Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Cystic meningioangiomatosis and cerebellar ependymoma in a child with neurofibromatosis type 2

Radiology Case Reports, 2022
We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2).
Austin Wheeler, MD, Katie Metrock, MD, Rong Li, MD, Sumit Singh, MD   +3 more
doaj   +1 more source

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +1 more source

Mapping the Genetic Landscape of Neurofibromatosis: Insights from a Multi-Generational Family Study

Journal of Indian Academy of Oral Medicine and Radiology
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition resulting from mutations in the NF1 tumor suppressor gene. Affected individuals exhibit pigmentary changes, including café-au-lait macules, skinfold freckling, and Lisch ...
Praveen Kumar Neela, BV Rajeshwari, Anulekha Avinash, Avinash Tejasvi, Vasavi Mohan, Shahistha Parveen   +5 more
doaj   +1 more source

Secondary glioblastoma multiforme in a pediatric patient. Case presentation and review of the literature

Revista Científica Estudiantil 2 de Diciembre, 2022
Introduction: Glioblastoma Multiforme is a primary neoplasm of the Central Nervous System. They are aggressive tumors classified according to the World Health Organization as grade IV gliomas, with peak incidence by age between 40 and 70 years old, being
Amalia Inés Luna Capote, Bettsy Bell Bosch Rodríguez, Carlos Javier Artiles Rivero, Ángel Serafín Camacho-Gómez   +3 more
doaj  

[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

Actin dynamics controlled by IqgC, a RasGAP at the crossroads between the IQGAP and fungal GAP1 families

FEBS Open Bio, EarlyView.
IqgC is a RasGAP from Dictyostelium discoideum. IqgC binds RasG via its RasGAP domain and deactivates it on macroendocytic cups, thereby suppressing the uptake of fluid and particles. IqgC has a positive effect on cell‐substratum adhesion, and its RGCt domain is required for recruitment to ventral foci.
Vedrana Filić, Darija Putar, Lucija Mijanović, Igor Weber   +3 more
wiley   +1 more source