Results 1 to 10 of about 25,453,635 (202)
Reliability of functional outcome measures in adults with neurofibromatosis 2 [PDF]
SAGE Open Medicine, 2022 Objective: To determine inter- and intra-rater reliability of functional performance outcome measures in people with neurofibromatosis 2. To ascertain how closely objective and subjective measures align. Methods: Twenty-nine people with neurofibromatosis
Rebecca Louise Mullin +4 more
doaj +2 more sources
Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] [PDF]
Genetics in Medicine, 2009 Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome.
D. Evans
semanticscholar +4 more sources
Neurofibromatose 2: opções de restauração auditiva Neurofibromatosis 2: hearing restoration options
Brazilian Journal of Otorhinolaryngology, 2012 Neurofibromatose 2 (NF2) é uma doença autossômica dominante que, invariavelmente, cursa com surdez. Restauração auditiva pode ser realizada por meio do implante coclear (IC) ou implante auditivo de tronco encefálico (ABI).
Tatiana Alves Monteiro +5 more
doaj +2 more sources
Medical Journal of Dr. D.Y. Patil University, 2015 Neurofibromatosis 2 is a rare autosomal dominant neurocutaneous disorder classically characterized by bilateral acoustic schwannomas. Multiple other central, as well as peripheral central nervous system neoplasms as meningiomas and ependymomas, are also ...
Abhijit M Patil +3 more
doaj +3 more sources
Diffuse Meningiomatosis without Neurofibromatosis: A Rare Diagnosis with Atypical Presentation
Indian Journal of Radiology and Imaging, 2021 Meningiomas are amongst the most common neoplasms of the central nervous system; however, “multiple meningiomas” or “meningiomatosis” account for
Smily Sharma, Pankaj Sharma, Amit Kumar
doaj +1 more source
Case report of selumetinib as a novel therapy in a neurofibromatosis type 2-associated ependymoma
Molecular Therapy: Methods & Clinical Development, 2023 We report partial response (PR) to novel therapy with selumetinib in a patient with neurofibromatosis type 2 (NF2). A 25-year-old male presented with bilateral vestibular schwannomas, spinal cord intramedullary ependymomas, cranial and spinal meningiomas,
Nigel Blackwood +2 more
doaj +1 more source
Third nerve palsy as a presenting feature of neurofibromatosis 2 – A case report
TNOA Journal of Ophthalmic Science and Research, 2023 Neurofibromatosis 2 is an inheritable disorder characterized by bilateral vestibular nerve schwannomas. The usual presentation of such patients is hearing loss and difficulties with balancing.
Hennaav K Dhillon +2 more
doaj +1 more source
Journal of Genetic Counseling, 2020 The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or
Heather B. Radtke +5 more
semanticscholar +1 more source
Recent advance on the treatment of neurofibromatosis type 2 ⁃ associated vestibular schwannoma
Chinese Journal of Contemporary Neurology and Neurosurgery, 2022 Neurofibromatosis type 2 (NF2) is an autosomal dominant inherited diseases. NF2 patients suffer a high mortality and disability rate. Bilateral vestibular schwannoma play an important role in its diagnosis and treatment. The balance of treatment and life
YANG Zhi⁃jun, LIU Pi⁃nan
doaj +1 more source
Medical Journal of Dr. D.Y. Patil Vidyapeeth, 2020 Neurofibromatosis type 2 (NF-2) is a rare autosomal dominant disorder characterized by multiple neoplasms which include meningiomas, schwannomas, and ependymomas. The most common tumors associated with NF-2 are bilateral vestibular schwannomas. We report
Amit Kharat +3 more
doaj +1 more source