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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/29902600/contralateral-hearing-loss-after-resection-of-vestibular-schwannoma-in-a-case-of-neurofibromatosis-type-2-case-report-and-literature-review
#1
Manjul Tripathi, Ayusman Satapathy, Ravi Bharatbhai Chauhan, Aman Batish, Sunil K Gupta
BACKGROUND: Resection of a vestibular schwannoma may result in facial paralyiss and hearing loss on the side of tumor. Authors have encountered a young female of neurofibromatosis type 2, who developed contralateral side sensorineural hearing loss immediately after resection of vestibular schwannoma.The patient regained partial hearing with a short course (2 months) of steroid therapy over 6 month. MATERIAL AND METHODS: Clinical, audiological, intraoperative events and radiological parameters were evaluated in this case...
June 11, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29899775/extensive-cranial-nerves-involvement-in-neurofibromatosis-a-rare-presentation
#2
Ashutosh Gupta, Charu Gupta, Monika Sachan, Sandeep Singh
Neurofibromatosis type 2 is a rare neurocutaneous syndrome characterized by the development of multiple nervous system tumors. This disorder is also called multiple inherited schwannomas, meningiomas, and ependymomas syndrome. In this report, we discuss the clinical and magnetic resonance imaging findings in a 17-year-old patient with neurofibromatosis type 2, who had extensive cranial nerves involvement (3rd-12th cranial nerves) along with spinal involvement. It is very rare to find tumors affect nearly all cranial nerves (namely 3rd-12th nerves), and their association with meningiomas and intramedullary spinal cord tumors in the same patient...
January 2018: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29897904/traditional-and-systems-biology-based-drug-discovery-for-the-rare-tumor-syndrome-neurofibromatosis-type-2
#3
Robert Allaway, Steve P Angus, Roberta L Beauchamp, Jaishri O Blakeley, Marga Bott, Sarah S Burns, Annemarie Carlstedt, Long-Sheng Chang, Xin Chen, D Wade Clapp, Patrick A Desouza, Serkan Erdin, Cristina Fernandez-Valle, Justin Guinney, James F Gusella, Stephen J Haggarty, Gary L Johnson, Salvatore La Rosa, Helen Morrison, Alejandra M Petrilli, Scott R Plotkin, Abhishek Pratap, Vijaya Ramesh, Noah Sciaky, Anat Stemmer-Rachamimov, Tim J Stuhlmiller, Michael E Talkowski, D Bradley Welling, Charles W Yates, Jon S Zawistowski, Wen-Ning Zhao
Neurofibromatosis 2 (NF2) is a rare tumor suppressor syndrome that manifests with multiple schwannomas and meningiomas. There are no effective drug therapies for these benign tumors and conventional therapies have limited efficacy. Various model systems have been created and several drug targets have been implicated in NF2-driven tumorigenesis based on known effects of the absence of merlin, the product of the NF2 gene. We tested priority compounds based on known biology with traditional dose-concentration studies in meningioma and schwann cell systems...
2018: PloS One
https://www.readbyqxmd.com/read/29889789/does-a-fundal-fluid-cap-predict-successful-hearing-preservation-in-vestibular-schwannoma-resections-via-the-middle-cranial-fossa-approach
#4
Daniel Q Sun, Raymond W Kung, Marlan R Hansen, Bruce J Gantz
OBJECTIVE: To determine the association between radiographic cerebrospinal fluid (CSF) cap in the lateral internal auditory canal (IAC) and likelihood of successful hearing preservation in middle cranial fossa (MCF) vestibular schwannoma (VS) surgery. STUDY DESIGN: Retrospective chart review. SETTING: Academic tertiary referral center. PATIENTS: One hundred thirty-eight consecutive patients (mean age/standard deviation, SD, 50/11 yr) who underwent MCF VS resection...
July 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29881912/long-qt-syndrome-kcnh2-mutation-with-sequential-fetal-and-maternal-sudden-death
#5
Jon M Tuveng, Britt-Marie Berling, Gabor Bunford, Carlos G Vanoye, Richard C Welch, Trond P Leren, Alfred L George, Torleiv Ole Rognum
We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). A catecholamine surge was suspected as the precipitating event of fetal cardiac arrhythmia and sudden fetal death, while the addition of emotional stress provoked a lethal cardiac event in the mother...
June 8, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29879026/germline-mutation-of-chek2-in-neurofibromatosis-1-and-2-two-case-reports
#6
Qiang Li, Feilong Zhao, Yan Ju
RATIONALE: Neurofibromatosis, including type 1 and type 2, is inherited dominant disease that causes serious consequences. The genetic mechanism of these diseases has been described, but germline mutation of checkpoint 2 kinase gene, together with other DNA repair related genes, has not been fully elucidated in the context of neurofibromatosis. PATIENT CONCERNS: In this article, we reported identical germline mutation of CHEK2 gene (p.R180C) in a 7-year-old Tibetan boy with NF1, and in a 12-year-old Chinese girl with NF2...
June 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29873783/resection-of-2-intradural-extramedullary-cervical-spine-tumors-in-a-patient-with-neurofibromatosis-type-2-3-dimensional-operative-video
#7
Simone E Dekker, Chad A Glenn, Thomas A Ostergard, Osmond C Wu, Fernando Alonso, Jonathan A Pace, Brian D Rothstein, Abhishek Ray, Nicholas C Bambakidis
This 3-dimensional operative video illustrates resection of 2 cervical spine schwannomas in a 19-yr-old female with neurofibromatosis type 2. The patient presented with lower extremity hyperreflexity and hypertonicity. Magnetic resonance imaging (MRI) demonstrated 2 contrast-enhancing intradural extramedullary cervical spine lesions causing spinal cord compression at C4 and C5. The patient underwent a posterior cervical laminoplasty with a midline dural opening for tumor resection. Curvilinear spine cord compression is demonstrated in the operative video...
June 5, 2018: Operative Neurosurgery (Hagerstown, Md.)
https://www.readbyqxmd.com/read/29868161/large-penile-plexiform-neurofibroma-in-an-11-year-old-boy
#8
Nwokoro Chingbundu Collins, Emmanuel Ezekiel Ayodeji, Fatungase Oluwabunmi Motunrayo, Salami Babatunde Abayomi, Ogundele Ibukunolu Olufemi, Amosu Lukmon Olusesan
Background: Neurofibromatosis is a genetically inherited disorder of the nervous system (brain and spinal cord) which mainly affects the development of nerve (neural) cell tissues, causing tumors (neurofibromas) to develop on nerves. It is the most common single gene disorder of the nervous system and inheritance is through autosomal dominance. They are usually classified into types 1 and 2, the type 1 is the commoner type and also known as superficial neurofibroma. Plexiform neurofibromas are the next most common type of tumor in individuals with type 1 neurofibroma...
March 2018: Malawi Medical Journal: the Journal of Medical Association of Malawi
https://www.readbyqxmd.com/read/29804288/cdkn2a-b-loss-is-associated-with-anaplastic-transformation-in-a-case-of-ntrk2-fusion-positive-pilocytic-astrocytoma
#9
Giselle Y López, Arie Perry, Brian Harding, Marilyn Li, Mariarita Santi
Pilocytic astrocytomas are typically grade I astrocytomas, only rarely progressing to anaplastic counterparts [1]. In the case of anaplastic pilocytic astrocytomas, some are associated with neurofibromatosis type 1 (NF1) [2], others are associated with radiation treatment [2], and the remainder appear de novo. These de novo tumours can be particularly challenging to distinguish from glioblastomas, which are grade IV and carry a worse prognosis. Here we report an unusual case of malignant transformation of a pilocytic astrocytoma in the absence of NF1 alterations or radiation treatment...
May 27, 2018: Neuropathology and Applied Neurobiology
https://www.readbyqxmd.com/read/29796169/aberrant-atrx-protein-expression-is-associated-with-poor-overall-survival-in-nf1-mpnst
#10
Hsiang-Chih Lu, Vanessa Eulo, Anthony J Apicelli, Melike Pekmezci, Yu Tao, Jingqin Luo, Angela C Hirbe, Sonika Dahiya
Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are aggressive soft tissue sarcomas that can occur sporadically or in the setting of the Neurofibromatosis type 1 (NF1) cancer predisposition syndrome. These tumors carry a dismal overall survival. Previous work in our lab had identified ATRX chromatin remodeler ( ATRX ), previously termed, Alpha Thalassemia/Mental Retardation Syndrome X Linked as a gene mutated in a subset of MPNSTs. Given the great need for novel biomarkers and therapeutic targets for MPNSTs, we sought to determine the expression of ATRX in a larger subset of sporadic and NF1 associated MPNSTs (NF1-MPNSTs)...
May 1, 2018: Oncotarget
https://www.readbyqxmd.com/read/29794459/hearing-rehabilitation-in-neurofibromatosis-type-2
#11
Hannah J D North, Simon K W Lloyd
Bilateral vestibular schwannomas are almost pathognomonic of neurofibromatosis type 2 (NF2). As a result of these tumors, hearing loss is the presenting symptom in 60% of adults and 30% of children with NF2. It is often bilateral. The best means of preserving hearing in patients with NF2 is conservative management. Even so at least 28% of patients have progression of hearing loss following diagnosis. The likelihood of progression of hearing loss is, at least in part, determined by the type of mutation. Treatment of vestibular schwannomas often has a detrimental effect on hearing...
2018: Advances in Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29789890/surveillance-magnetic-resonance-imaging-for-isolated-optic-pathway-gliomas-is-gadolinium-necessary
#12
Ezekiel Maloney, A Luana Stanescu, Francisco A Perez, Ramesh S Iyer, Randolph K Otto, Sarah Leary, Lotte Steuten, Amanda I Phipps, Dennis W W Shaw
BACKGROUND: Pediatric optic pathway gliomas are typically indolent but have a variable clinical course. Treatment is dictated by symptoms and changes on contrast-enhanced MRI examinations. Gadolinium retention in children has motivated parsimonious use of gadolinium-based contrast agents. OBJECTIVES: To determine surveillance MR factors that motivate changes in tumor-directed therapies and extrapolate cost-efficacy of a non-contrast follow-up protocol. MATERIALS AND METHODS: Using an imaging database search we identified children with isolated optic pathway gliomas and ≥3 follow-up contrast-enhanced MRIs...
May 22, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29781505/cerebral-vasculopathy-in-childhood-neurofibromatosis-type-2-cause-for-concern
#13
Karine Lascelles, Shazia Afridi, Ata Siddiqui, Cheryl Hemingway, Rosalie Ferner, Vijeya Ganesan
Unlike adult neurofibromatosis type 2 (NF2), which presents with symptoms related to bilateral vestibular schwannomas, children with NF2 most frequently present with ocular, dermatological, and neurological symptoms. Arteriopathy, a well-established feature in neurofibromatosis type 1, is not a widely recognized feature of NF2. Here we report three children with NF2 with cerebral arteriopathy and/or arterial ischaemic stroke. Bevacizumab, a vascular endothethial growth factor inhibitor, is an established treatment for rapidly growing vestibular schwannomas; however, it carries a risk of both ischaemic and haemorrhagic stroke...
May 21, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29780700/sporadic-nf2-mosaic-multiple-spinal-schwannomas-presenting-with-severe-intractable-pain-following-pregnancy
#14
Jeffrey H Zimering, Bryan D Choi, Matthew J Koch, John C Dewitt, Anat Stemmer-Rachamimov, John H Shin
The aim of the present paper is to report undiagnosed sporadic neurofibromatosis type 2 presenting with symptomatic compressive spinal tumors following pregnancy. A 36-year-old woman experienced progressive, severe lumbar radicular pain in the second trimester of pregnancy which became intractable soon after delivery. Magnetic resonance imaging revealed a complex heterogeneous hypointense mass lesion around the conus. There were two small punctate lesions in the cauda equina suggestive of myxopapillary ependymoma with 'drop metastases...
December 2017: Interdisciplinary Neurosurgery: Advanced Techniques and Case Management
https://www.readbyqxmd.com/read/29766345/visual-function-assessed-by-visually-evoked-potentials-in-optic-pathway-low-grade-gliomas-with-and-without-neurofibromatosis-type-1
#15
Patrícia de Freitas Dotto, Adriana Berezovsky, Andrea Maria Cappellano, Nasjla Saba da Silva, Paula Yuri Sacai, Frederico Adolfo B Silva, Arthur Gustavo Fernandes, Daniel Martins Rocha, Solange Rios Salomão
PURPOSE: To investigate the contribution of full-field transient pattern-reversal visually evoked potentials (PRVEP) on cross-sectional evaluations of visual function in patients with and without neurofibromatosis type 1 (NF1) affected by optic pathway low-grade gliomas (OPLGG). METHODS: Participants were children and adolescents referred for visual function evaluation and receiving treatment for OPLGG, linked (NF1-OPLGG) or not to NF1 (Non-NF1-OPLGG). An age-adjusted control group was included for comparison...
May 15, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29762338/incidence-and-risk-factors-for-instrumentation-related-complications-after-scoliosis-surgery-in-pediatric-patients-with-nf-1
#16
Ziming Yao, Hao Li, Xuejun Zhang, Chengxin Li, Xinyu Qi
STUDY DESIGN: Retrospective cohort study. OBJECTIVE: To assess the incidence and risk factors of instrumentation-related complication (IRC) in pediatric patients surgically treated for neurofibromatosis type 1 (NF-1) dystrophic scoliosis. SUMMARY OF BACKGROUND DATA: Surgical management including growing rods technique and early definitive fusion has been recommended to avoid progression of NF-1 scoliosis. However, no study has yet investigated the incidence and risk factors of IRC in these surgical interventions...
May 14, 2018: Spine
https://www.readbyqxmd.com/read/29761250/sarcoma-in-neurofibromatosis-2-case-report-and-review-of-the-literature
#17
C Linder, M J Smith, M Bulman, A Wallace, A J Freemont, D C Mangham, D G R Evans
Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1...
May 14, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29754738/psychological-follow-up-care-of-neurofibromatosis-type-2-patients-and-their-relatives
#18
REVIEW
C Carillo, M Kiening, S Bergheimer, M Kalamarides
Neurofibromatosis type 2 (NF2) confronts patients and their relatives with the dual issue of a progressive disease and disability. Deafness creates a brutal rupture in the patients' course of life, and other disabilities often follow in addition, that further deteriorates their quality of life. Hearing rehabilitation, via a cochlear implant and auditory brainstem implant, attempts to reduce the feeling of isolation and suffering due to communication impairment. A NF2-specific quality of life questionnaire not only helps to evaluate the impact of the disease but it is also useful therapy proposals (treatment, auditory implants)...
May 10, 2018: Neuro-Chirurgie
https://www.readbyqxmd.com/read/29731861/analysis-of-yap1-and-taz-expression-by-immunohistochemical-staining-in-malignant-mesothelioma-and-reactive-mesothelial-cells
#19
Yusuke Takehara, Toshiko Yamochi, Tasuku Nagumo, Tomonari Cho, Fumihiko Urushibara, Kohei Ono, Tomonori Fujii, Naoko Okamoto, Yosuke Sasaki, Sakiko Tazawa, Mayumi Honma, Tomoko Norose, Eisuke Shiozawa, Genshu Tate, Masafumi Takimoto
Gene mutations are involved in the development of malignant mesothelioma. Important mutations have been identified in the genes for cyclin-dependent kinase inhibitor 2A (p16) alternative reading frame, breast cancer-associated protein 1 ( BAP1 ) and neurofibromatosis type 2 ( NF2 ). Previously, the utility of detecting the loss of BAP1 by immunohistochemistry (IHC) and p16-deletion by fluorescence in situ hybridization has been identified in several studies. However, NF2 -associated examinations have not been performed...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29730711/pronounced-maternal-parent-of-origin-bias-for-type-1-nf1-microdeletions
#20
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different types of large NF1 deletion occur which are distinguishable by their breakpoint location and underlying mutational mechanism. Most common are the type-1 NF1 deletions of 1.4 Mb which exhibit recurrent breakpoints caused by nonallelic homologous recombination (NAHR), also termed unequal crossover. Here, we analyzed 37 unrelated families of patients with de novo type-1 NF1 deletions by means of short tandem repeat (STR) profiling to determine the parental origin of the deletions...
May 5, 2018: Human Genetics
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