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Neurofibromatosis type 2

Anna C Lawson McLean, Steffen K Rosahl
OBJECT: Neurofibromatosis type 2 is an autosomal-dominant disorder caused by a defective gene locus 22q12. Patients with NF2 are prone to develop multiple intracranial neoplasms, such as vestibular schwannomas, meningiomas and schwannomas of other cranial nerves. To date, little is known about the growth dynamics of these tumors. The aim of our study was to investigate a) the median growth rate per year, b) the growth-free intervals, and c) the growth patterns of these tumors. METHODS: Patient records from the regional neurofibromatosis center were evaluated for their suitability in this analysis...
October 21, 2016: World Neurosurgery
Peng Li, Zhenmin Wang, Qiangyi Zhou, Shiwei Li, Jing Zhang, Ying Wang, Xingchao Wang, Bo Wang, Fu Zhao, Pinan Liu, Zhijun Yang
BACKGROUND: Vision is extremely important for patients with hearing loss due to neurofibromatosis type 2 (NF2). Tumors adjacent to the anterior visual pathway can potentially impair the vision. To date, only a few case reports and small-series studies have been reported. OBJECTIVE: To evaluate the clinical features of tumors adjacent to the anterior visual pathway in a large series of NF2 patients. METHODS: Seventy-three patients with potentially vision-impairing tumors were carefully screened from among 467 NF2 patients...
October 21, 2016: World Neurosurgery
Nina Mikirova, Ronald Hunnunghake, Ruth C Scimeca, Charles Chinshaw, Faryal Ali, Chris Brannon, Neil Riordan
BACKGROUND In neurofibromatosis type 1 (NF1) disease, the loss of the tumor suppressor function of the neurofibromin gene leads to proliferation of neural tumors. In children, the most frequently identified tumor is the optic pathway glioma. CASE REPORT We describe the case of a 5-year-old child who was diagnosed with NF1 and optic pathway tumor onset at the age of 14 months. Because of the tumor progression, chemotherapy with carboplatin and vincristine was prescribed at this early age and continued for one year...
October 24, 2016: American Journal of Case Reports
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
Stephanie M Morris, Maria T Acosta, Shruti Garg, Jonathan Green, Susan Huson, Eric Legius, Kathryn N North, Jonathan M Payne, Ellen Plasschaert, Thomas W Frazier, Lauren A Weiss, Yi Zhang, David H Gutmann, John N Constantino
Importance: Recent reports have demonstrated a higher incidence of autism spectrum disorder (ASD) and substantially elevated autistic trait burden in individuals with neurofibromatosis type 1 (NF1). However, important discrepancies regarding the distribution of autistic traits, sex predominance, and association between ASD symptoms and attentional problems have emerged, and critical features of the ASD phenotype within NF1 have never been adequately explored. Establishing NF1 as a monogenic cause for ASD has important implications for affected patients and for future research focused on establishing convergent pathogenic mechanisms relevant to the potential treatment targets for ASD...
October 19, 2016: JAMA Psychiatry
Luciana G Madeira, Renata Lf Passos, Juliana F de Souza, Nilton A Rezende, Luiz O C Rodrigues
Objective: Neurofibromatosis type 1 (NF1) causes neural and cutaneous disorders and reduced exercise capacity. Exercise/heat exposure increasing internal temperature must be compensated by eccrine sweat function and warmed skin vasodilation. We suspected NF1 could adversely affect eccrine sweat function and/or vascular thermoregulatory responses (VTR). Methods: The eccrine sweat function and VTR of 25 NF1 volunteers (14 males, 11 females; 16-57 years old) were compared with 23 non-NF1 controls matched by sex, age, height and weight (CG)...
October 2016: Arquivos de Neuro-psiquiatria
Daniel S Roberts, Steve Otto, Brian Chen, Kevin A Peng, Marc S Schwartz, Derald E Brackmann, John W House
OBJECTIVE: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients. STUDY DESIGN: A retrospective case series and patient survey. SETTING: Tertiary neurotologic referral center. PATIENTS: NF2 patients who underwent translabyrinthine removal of VS and ABI placement between 1994 and 2015...
October 12, 2016: Otology & Neurotology
Melania Ester Mercado-Pimentel, Craig Miller, Daniela N Rolph, Edrick F Villalobos, Allison M Dunn, Prithvi M Mohan, Suzu Igarashi, Xiangdang Liu, Macken Yrun-Duffy, Neal K Patel, Cecilia M Read, Ross H Francis, Adelina Isabella Lane, Swaroop Murugesh, Abraham Jacob
HYPOTHESIS: p21-activated kinase (PAK) regulates signaling pathways that promote cell survival and proliferation; therefore, pharmacological inhibition of PAK will induce cell death in vestibular schwannomas (VS) and meningiomas. BACKGROUND: All VS and many meningiomas result from loss of the neurofibromatosis type 2 (NF2) gene product merlin, with ensuing PAK hyperactivation and increased cell proliferation/survival. METHODS: The novel small molecule PAK inhibitors PI-8 and PI-15-tested in schwannoma and meningioma cells-perturb molecular signaling and induce cell death...
October 12, 2016: Otology & Neurotology
Suthakar Ganapathy, Johan B Fagman, Ling Shen, Tianqi Yu, Xiaodong Zhou, Wei Dai, Alexandros Makriyannis, Changyan Chen
Nf1 mutations or deletions are suggested to underlie the tumor predisposition of NF1 (neurofibromatosis type 1) and few treatments are available for treating NF1 patients with advanced malignant tumors. Aberrant activation of Ras in Nf1-deficient conditions is responsible for the promotion of tumorigenesis in NF1. PKC is proven to be an important factor in supporting the viability of Nf1-defected cells, but the molecular mechanisms are not fully understood. In this study, we demonstrate that the inhibition of protein kinase C (PKC) by 1-O-Hexadecyl-2-O-methyl-rac-glycerol (HMG, a PKC inhibitor) preferentially sensitizes Nf1-defected cells to apoptosis, via triggering a persistent mitotic arrest...
October 12, 2016: Oncotarget
Ang Deng, Hong-Qi Zhang, Ming-Xing Tang, Shao-Hua Liu, Yu-Xiang Wang, Qi-Le Gao
OBJECTIVE The objective of this study was to evaluate the clinical efficacy of posterior-only surgical correction of dystrophic scoliosis in patients with neurofibromatosis Type 1 (NF1) using a multiple anchor point method (MAPM). METHODS From 2005 to 2014, 31 patients (mean age 13.5 years old, range 10-22 years old) suffering from dystrophic scoliosis associated with NF1 underwent posterior-only surgical correction using a MAPM. The apex of the deformity was thoracic (n = 25), thoracolumbar (n = 4), and lumbar (n = 2)...
October 14, 2016: Journal of Neurosurgery. Pediatrics
Jessica Mani Penny Tevaraj, Evelyn Tai Li Min, Raja Azmi Mohd Noor, Azhany Yaakub, Wan Hazabbah Wan Hitam
Neurofibromatosis type 2 usually presents with bilateral acoustic schwannomas. We highlight the rare presentation of neurofibromatosis initially involving third nerve. A 23-year-old Malay female presented with left eye drooping of the upper lid and limitation of upward movement for 8 years. It was associated with right-sided body weakness, change in voice, and hearing disturbance in the right ear for the past 2 years. On examination, there was mild ptosis and limitation of movement superiorly in the left eye...
2016: Case Reports in Ophthalmological Medicine
Matthew L Carlson, Nicholas L Deep, Neil S Patel, Larry B Lundy, Nicole M Tombers, Christine M Lohse, Michael J Link, Colin L Driscoll
OBJECTIVE: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era. PATIENTS AND METHODS: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS. RESULTS: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded...
October 5, 2016: Mayo Clinic Proceedings
Marc S Schwartz, Eric P Wilkinson
OBJECTIVE: Auditory brainstem implants (ABIs), which have previously been used to restore auditory perception to deaf patients with neurofibromatosis type 2 (NF2), are now being utilized in other situations, including treatment of congenitally deaf children with cochlear malformations or cochlear nerve deficiencies. Concurrent with this expansion of indications, the number of centers placing and expressing interest in placing ABIs has proliferated. Because ABI placement involves posterior fossa craniotomy in order to access the site of implantation on the cochlear nucleus complex of the brainstem and is not without significant risk, we aim to highlight issues important in developing and maintaining successful ABI programs that would be in the best interests of patients...
September 26, 2016: Laryngoscope
Nicolas -Xavier Bonne, Rabih Aboukais, Marc Baroncini, Audrey Hochart, Pierre Leblond, Franck Broly, Frédérique Dubrulle, Jean-Paul Lejeune, Christophe Vincent
OBJECTIVE: This study aims to describe the clinical and molecular presentation of pediatric neurofibromatosis type 2 (NF2) and the subsequent management of vestibular schwannomas (VS) and hearing rehabilitation. METHODS: This is a single-center retrospective study of neurofibromatosis type 2 diagnosed before the age of 18 years old from 1997. Natural history of vestibular schwannomas and surgical outcomes were evaluated using volumetric MRI, hearing, and facial nerve assessment...
October 4, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Satoru Kudose, Michael Kyriakos, Michael Magdi Awad
: Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Most cases of PS occur in the skin and subcutaneous soft tissue, with only a few reports of digestive tract involvement. We describe an 18-year-old male with NF2 who had bilateral vestibular schwannomas and multiple cutaneous PSs, and a 3-year history of abdominal pain...
September 30, 2016: Clinical Journal of Gastroenterology
Hannah J D North, Deborah Mawman, Martin O'Driscoll, Simon R Freeman, Scott A Rutherford, Andrew T King, Charlotte Hammerbeck-Ward, D Gareth Evans, Simon K W Lloyd
In neurofibromatosis type 2 (NF2) bilateral vestibular schwannomas (VS) or their treatment usually results in bilateral hearing loss. Cochlear implantation (CI) was traditionally not used in these patients due to concern that retrocochlear disease would render the implant ineffective. This paper describes the auditory outcomes of CI in 13 patients with NF2 and includes patients with untreated VS and patients undergoing VS removal with cochlear nerve preservation. The non-user rate was 7.7%. Of the active users, median CUNY score was 98%, median BKB score in quiet was 90% and median BKB score in noise was 68%...
July 2016: Cochlear Implants International
Martino Ruggieri, Andrea D Praticò, Agostino Serra, Luigi Maiolino, Salvatore Cocuzza, Rosario Caltabiano, Agata Polizzi
No abstract text is available yet for this article.
September 26, 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
Christos Yapijakis, Maria Adamopoulou, Konstantina Tasiouka, Costas Voumvourakis, George Stranjalis
BACKGROUND/AIM: A deeper understanding of the complex molecular pathology of brain malignancies is needed in order to develop more effective and targeted therapies of these highly lethal disorders. In an effort to further enlighten the molecular pathology of brain oncogenesis involving the her-2 (erbB-2/neu/ngl)/N-ras/nf1 pathway, we screened the genotypes of specimens from various types of brain tumors. MATERIALS AND METHODS: The studied specimens included 35 biopsies of four general categories: 13 neuroglial tumors (4 astrocytomas, 2 oligodendrogliomas, 7 glioblastomas multiforme), 14 meningiomas, 3 other nervous system tumors (2 schwannomas, 1 craniopharyngioma) and 5 metastatic tumors (such as lung carcinomas and chronic myelocytic leukemia)...
September 2016: Anticancer Research
Yasha Parikh, Kush J Sharma, Samir J Parikh, Diane Hall
Schwannomas are benign tumors arising from the peripheral nerve sheath, commonly occurring in the head, neck, and extensor surfaces of the extremities. They can be associated with neurofibromatosis type II. Our case describes a 48-year-old woman with a 2-week history of a left-sided palpable breast mass. She was referred to radiology, where additional imaging revealed a 1.1-cm mass. A biopsy was performed; histology revealed an intramammary schwannoma. Mammography findings include a well-defined mass without calcification...
September 2016: Radiology case reports
Anna Lawson McLean, Steffen Rosahl
BACKGROUND: To date, few studies have been published about the growth dynamics of tumors associated with neurofibromatosis type-2 (NF2), none of which evaluated gender-specific differences. Our aim was to compare radiographic data of female and male patients with NF2. METHODS: MR images of 40 patients (20 female, 20 male) from the regional NF2 referral center were included in this analysis. Tumor sizes were determined by semi-automated volumetric measurement. Intracranial tumors were measured on post-contrast T1-weighted MRI datasets and volumes of intramedullary spinal tumors were determined from sagittal T2-weighted MRI datasets...
November 2016: Acta Neurochirurgica
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