نتایج جستجو برای: neurofibromatosis nf2
تعداد نتایج: 7346 فیلتر نتایج به سال:
BACKGROUND Neurofibromatosis type 2 (NF2) is an autosomal dominant syndrome with a frequency of 1 in 25,000 live births and a penetrance of almost 100% by the sixth decade of life. The main tumors occurring in NF2 patients are bilateral vestibular schwannomas, other peripheral, cranial and spinal nerve schwannomas, intracranial and intraspinal meningiomas, ependymomas, and gliomas. CASE DESCR...
Mutations of NF2, the gene for neurofibromatosis 2, are detected in 20-30% of sporadic meningiomas, and almost all mutations lead to loss of merlin expression. However, loss of heterozygosity (LOH) at chromosome 22q is found at a much higher frequency, up to 50-70%, and the possibility of another tumor suppressor gene in this region has not been excluded. Furthermore, a recent report proposed t...
Neurofibromatosis (NF) type 1 (NF1), NF 2 (NF2), and schwannomatosis are genetic tumor predisposition syndromes with a wide variety of clinical manifestations. Effective medical treatments for these conditions remain limited. Since its founding in 2011, the Response Evaluation Schwannomatosis (REiNS) International Collaboration has worked to develop standardized, practical, clinically meaningfu...
fourteen patients with bilateral low frequency sensorineural hearing loss were found with disproportionate speech discrimination scores. these patients were submmitted to a comprehensive audiological, electrophysiological, neurological, and radiological battery of investigation. the results pointed to a lesion probably in the central auditory pathway.
The Harvard community has made this article openly available. Please share how this access benefits you. Your story matters. " Multiple synchronous sites of origin of vestibular schwannomas in neurofibromatosis Type 2. ABSTRACT Background Neurofibromatosis Type 2 (NF2) is a dominantly inherited tumour syndrome with a phenotype which includes bilateral vestibular (eighth cranial nerve) schwannom...
Importance Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatolo...
Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with a...
OBJECTIVE To report a case of a patient presenting with two separate unilateral vestibular schwannomas (VSs) without other stigmata of neurofibromatosis type 2 (NF2). STUDY DESIGN This article discusses a case report and review of the literature. SETTING Tertiary academic referral center. PARTICIPANTS A 41-year-old female was referred for evaluation of a left-sided 1.8-cm cerebellopontine...
Bevacizumab treatment can result in tumor shrinkage of progressive vestibular schwannomas in some neurofibromatosis 2 (NF2) patients but its effect on meningiomas has not been defined. To determine the clinical activity of bevacizumab against NF2-related meningiomas, we measured changes in volume of meningiomas in NF2 patients who received bevacizumab for treatment of progressive vestibular sch...
نمودار تعداد نتایج جستجو در هر سال
با کلیک روی نمودار نتایج را به سال انتشار فیلتر کنید