Results 61 to 70 of about 4,213 (222)

NF2-related schwannomatosis: A view from within the inner ear.

Hearing Research
NF2-related schwannomatosis (NF2-SWN, formerly known as neurofibromatosis type 2) is an autosomal dominant disorder associated with the growth of bilateral schwannomas on the cochleo-vestibular nerves and meningiomas.
E. Brown, Shada Nassar, Daniel J. Jagger
semanticscholar   +1 more source

Schwannomatosis of a Single Intercostal Nerve: A Case Report

Kaohsiung Journal of Medical Sciences, 2009
Schwannomatosis is a rare form of neurofibromatosis and is characterized by more than one schwannoma without any sign of neurofibromatosis. We report a case of a 60-year-old male patient admitted with progressive chest discomfort who was found to have ...
Jui-Wen Lee, Jane-Yi Hsu
doaj   +1 more source

Neurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT A comprehensive synthesis of the broad range of neurodevelopmental and psychiatric manifestations in NF1 is needed to identify knowledge gaps and future directions for NF1 research. In the following scoping review, we identify and summarize the scope of research that examines neurodevelopmental and psychiatric manifestations, both as ...
Meera Chopra, Tin‐Suet Joan Lee, Jacob Vorstman, Patricia Parkin, Louise Gallagher, Aneta Krakowski   +5 more
wiley   +1 more source

Gene Therapy for Neurofibromatosis Type 2-Related Schwannomatosis: Recent Progress, Challenges, and Future Directions

Oncology and Therapy
Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS).
Ruofei Yuan, Bo Wang, Ying Wang, Pinan Liu   +3 more
doaj   +1 more source

Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition : a report from the SIOPE Host Genome Working Group [PDF]

, 2021
The rhabdoid tumor (RT) predisposition syndromes 1 and 2 (RTPS1 and 2) are rare genetic conditions rendering young children vulnerable to an increased risk of RT, malignant neoplasms affecting the kidney, miscellaneous soft-part tissues, the liver and ...
Bourdeaut, F., Boztug, H., Cornips, M. C. A., Evans, D. G., Farah, R., Fruhwald, M. C., Glentis, S., Hirsch, S., Jahnukainen, K., Jorgensen, M., Katsibardi, K., Kerl, K., Kordes, U., Kratz, C. P., Kventsel, I., Nemes, K., Pajtler, K. W., Ridola, V., Stutz, E.   +18 more
core   +2 more sources

Recurrent Schwannomatosis of the Hand

HAND, 2020
Background: Peripheral nerve sheath tumors (PNSTs) are neoplastic soft tissue masses generated from the abnormal proliferation of Schwann cells. Often, these tumors occur in isolation and are known as schwannomas or neurilemmomas. The presence of multiple schwannomas is known as schwannomatosis. The purpose of this article is 2-fold: (1) to review the
Razvan Nicolescu, Nikhil A. Agrawal, Rowland W. Pettit, David T. Netscher   +3 more
openaire   +3 more sources

Pediatric spinal ependymomas: Long‐term surgical outcomes in a cohort of 61 cases

Pediatric Investigation, EarlyView.
Spinal ependymomas are rare in children, with limited long‐term outcome data. In this retrospective study of 61 pediatric patients undergoing surgical resection, gross total resection was achieved in 62.3% and was associated with favorable functional improvement. Recurrence was observed in 31.1% of cases.
Liang Zhang, Xingyu Liu, Bo Han, Wenqing Jia   +3 more
wiley   +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

Why a diagnosis of neurofibromatosis calls for the attention of a deaf educator [PDF]

, 2016
This paper will seek to describe neurofibromatosis (NF), the scope of its impact, how NF relates to hearing loss, and why someone with a teacher of the deaf’s expertise may have information to offer the intervention team for a child diagnosed with ...
López, Lydia Marie
core   +1 more source

Spinal Schwannomatosis

JBNC - JORNAL BRASILEIRO DE NEUROCIRURGIA, 2018
Schwannomatosis is a rare tumor syndrome characterized by more than one schwannoma without any evidence of other manifestations of neurofibromatosis (NF). A 32-year-old woman was admitted to our hospital because of weakness in her lower extremities. Neurological examination revealed paraparesis with hypoesthesia below T8 level.
Maurus Marques de Almeida Holanda, Daniel De Araujo Paz, Luiz Márcio De Brito Marinho Segundo, Christian Diniz Ferreira   +3 more
openaire   +2 more sources