Results 1 to 10 of about 25,083,649 (268)
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
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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
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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
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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
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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
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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
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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
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Neurofibromatosis type 2 [PDF]
Neurology, 2007 A 45-year-old woman developed a gradual onset of sensorineural hearing loss in the left ear in 1984. Head CT scan with contrast demonstrated bilateral cerebellopontine angle (CPA) enhancing masses. She underwent a resection of the left CPA tumor with pathology confirming schwannoma. …
S, Sathornsumetee +4 more
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Neurofibromatosis type 2 [PDF]
The Lancet, 2009 Neurofibromatosis type 2 is an autosomal-dominant multiple neoplasia syndrome that results from mutations in the NF2 tumour suppressor gene located on chromosome 22q. It has a frequency of one in 25,000 livebirths and nearly 100% penetrance by 60 years of age.
Ashok R, Asthagiri +6 more
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Neurofibromatosis type 2 [PDF]
Journal of Medical Genetics, 2000 Neurofibromatosis type 2 is an often devastating autosomal dominant disorder which, until relatively recently, was confused with its more common namesake neurofibromatosis type 1. Subjects who inherit a mutated allele of the NF2 gene inevitably develop schwannomas, affecting particularly the superior vestibular branch of the 8th cranial nerve, usually ...
D G, Evans, M, Sainio, M E, Baser
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