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Neurofibromatosis type 2

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https://www.readbyqxmd.com/read/29036751/-diagnosis-and-management-of-vestibular-schwannomas-an-interdisciplinary-challenge
#1
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100 000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#2
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29023243/pediatric-auditory-brainstem-implantation-surgical-electrophysiologic-and-behavioral-outcomes
#3
Holly F B Teagle, Lillian Henderson, Shuman He, Matthew G Ewend, Craig A Buchman
OBJECTIVES: The objectives of this study were to demonstrate the safety of auditory brainstem implant (ABI) surgery and document the subsequent development of auditory and spoken language skills in children without neurofibromatosis type II (NFII). DESIGN: A prospective, single-subject observational study of ABI in children without NFII was undertaken at the University of North Carolina at Chapel Hill. Five children were enrolled under an investigational device exemption sponsored by the investigators...
October 11, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/28984541/isolated-optic-nerve-gliomas-a-multicenter-historical-cohort-study
#4
Ben Shofty, Liat Ben-Sira, Anat Kesler, George Jallo, Mari L Groves, Rajiv R Iyer, Alvaro Lassaletta, Uri Tabori, Eric Bouffet, Ulrich-Wilhelm Thomale, Pablo Hernáiz Driever, Shlomi Constantini
OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. METHODS The authors conducted a multicenter retrospective cohort study aimed at determining the natural history of IONGs. Included were patients with clear-cut glioma of the optic nerve without posterior (chiasmatic/hypothalamic) involvement...
October 6, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28973692/malignant-peripheral-nerve-sheath-tumors-are-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#5
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Mark Kellett, Rupert Obholzer, Shazia Afridi, Patrick Axon, Dorothy Halliday, Allyson Parry, Owen M Thomas, Roger D Laitt, Martin G McCabe, Stavros Stivaros, Sara Erridge, D Gareth Evans
BACKGROUND: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS: The prospective database consists of 1253 patients with NF2...
July 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28973691/high-grade-glioma-is-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#6
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon M Freeman, Omar N Pathmanaban, Monica Rodriguez-Valero, Owen M Thomas, Roger D Laitt, Stavros Stivaros, Mark Kellett, D Gareth Evans
BACKGROUND: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas. OBJECTIVE: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. METHODS: The prospective database consists of 1253 patients with NF2. 1009 are known to be alive at last follow-up...
July 21, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28955729/children-with-5-end-nf1-gene-mutations-are-more-likely-to-have-glioma
#7
Corina Anastasaki, Stephanie M Morris, Feng Gao, David H Gutmann
OBJECTIVE: To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1). METHODS: The relationship between the type and location of the germline NF1 mutation and the presence of a glioma was analyzed in 37 participants with NF1 from one institution (Washington University School of Medicine [WUSM]) with a clinical diagnosis of NF1. Odds ratios (ORs) were calculated using both unadjusted and weighted analyses of this data set in combination with 4 previously published data sets...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28939538/incremental-value-of-multiparametric-whole-body-mr-imaging-over-whole-spine-magnetic-resonance-imaging-in-neurofibromatosis-type-i-patients
#8
Lihua Zhang, Dessouky Riham, Yin Xi, Avneesh Chhabra, Lu Q Le
AIM: To determine the incremental value of multiparametric whole-body (WBMRI) over whole spine magnetic resonance imaging (WSMRI) in neurofibromatosis type1 (NF1) patients. METHODS: A consecutive series of 30 patients with known NF1 underwent WBMRI screening using anatomic, diffusion and contrast imaging over a 30-month period. 13/30 patients also had WSMRI. Tumors were classified per location and morphology and were software segmented to determine numbers and volumes...
September 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28934903/reduced-rac1-activity-inhibits-cell-proliferation-and-induces-apoptosis-in-neurofibromatosis-type-2-nf2-associated-schwannoma
#9
Ying Wang, Bo Wang, Peng Li, Qi Zhang, Pinan Liu
Objective To study the function and potential mechanism of RAC1 inhibitors in NF2-associated schwannoma. Methods In this study, we the downregulation of RAC1 activity and tumor cell phenotypes by RAC1 inhibitor NSC23766 in vitro. And we further validated the anti-proliferation effect by this RAC1 inhibitor in subcutaneous xenograft tumor model and sciatic nerve model. Results Pharmacological inhibition of RAC1 could significantly inhibit the proliferation of both RT4 cells and human NF2-associated primary schwannoma cells by inducing apoptosis...
September 22, 2017: Neurological Research
https://www.readbyqxmd.com/read/28934393/neurofibromatosis-type-1-alternative-splicing-is-a-key-regulator-of-ras-erk-signaling-and-learning-behaviors-in-mice
#10
Hieu T Nguyen, Melissa N Hinman, Xuan Guo, Alok Sharma, Hiroyuki Arakawa, Guangbin Luo, Hua Lou
Appropriate activation of the Ras/extracellular signal-regulated kinase (ERK) protein signaling cascade within the brain is crucial for optimal learning and memory. One key regulator of this cascade is the Nf1 Ras GTPase activating protein (RasGAP), which attenuates Ras/ERK signaling by converting active Ras is bound to guanosine triphosphate, activating Ras into inactive Ras is bound to guanosine diphosphate, inactivating Ras. A previous study using embryonic stem cells and embryonic stem cell-derived neurons indicated that Nf1 RasGAP activity is modulated by the highly regulated alternative splicing of Nf1 exon 23a...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28927324/parasagittal-meningioma-a-not-so-benign-entity
#11
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
https://www.readbyqxmd.com/read/28924536/genetic-analyses-of-the-nf1-gene-in-turkish-neurofibromatosis-type-i-patients-and-definition-of-three-novel-variants
#12
S D Ulusal, H Gürkan, E Atlı, S A Özal, M Çiftdemir, H Tozkır, Y Karal, H Güçlü, D Eker, I Görker
Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center...
June 30, 2017: Balkan Journal of Medical Genetics: BJMG
https://www.readbyqxmd.com/read/28919049/perioperative-outcomes-of-syndromic-paraganglioma-and-pheochromocytoma-resection-in-patients-with-von-hippel-lindau-disease-multiple-endocrine-neoplasia-type-2-or-neurofibromatosis-type-1
#13
James J Butz, Qi Yan, Travis J McKenzie, Toby N Weingarten, Alexandre N Cavalcante, Irina Bancos, William F Young, Darrell R Schroeder, David P Martin, Juraj Sprung
BACKGROUND: Pheochromocytoma and/or paraganglioma associated with neurofibromatosis type 1, multiple endocrine neoplasia type 2A, and von Hippel-Lindau disease have different catecholamine biochemical phenotypes. We examined perioperative outcomes of pheochromocytoma/paraganglioma resection in 3 syndromic forms. METHODS: Retrospective review of patients undergoing resection of syndromic pheochromocytoma/paraganglioma from 2000 through 2016. RESULTS: Eighty-one patients underwent pheochromocytoma/paraganglioma resection (multiple endocrine neoplasia type 2A, n = 36; neurofibromatosis type 1, n = 26; von Hippel-Lindau disease, n = 19)...
September 14, 2017: Surgery
https://www.readbyqxmd.com/read/28911884/anti-vegf-treatment-improves-neurological-function-in-tumors-of-the-nervous-system
#14
REVIEW
Na Zhang, Jie Chen, Gino Ferraro, Limeng Wu, Meenal Datta, Rakesh K Jain, Scott R Plotkin, Anat Stemmer-Rachamimov, Lei Xu
Research of various diseases of the nervous system has shown that VEGF has direct neuroprotective effects in the central and peripheral nervous systems, and indirect effects on improving neuronal vessel perfusion which leads to nerve protection. In the tumors of the nervous system, VEGF plays a critical role in tumor angiogenesis and tumor progression. The effect of anti-VEGF treatment on nerve protection and function has been recently reported - by normalizing the tumor vasculature, anti-VEGF treatment is able to relieve nerve edema and deliver oxygen more efficiently into the nerve, thus reducing nerve damage and improving nerve function...
September 11, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28900754/surgery-versus-stereotactic-radiosurgery-for-the-treatment-of-multiple-meningiomas-in-neurofibromatosis-type-2-illustrative-case-and-systematic-review
#15
REVIEW
Thien Nguyen, Lawrance K Chung, John P Sheppard, Nikhilesh S Bhatt, Cheng Hao Jacky Chen, Carlito Lagman, Tania Kaprealian, Percy Lee, Phioanh L Nghiemphu, Isaac Yang
Neurofibromatosis type 2 (NF2) is a genetic neoplastic disorder that presents with hallmark bilateral vestibular schwannomas and multiple meningiomas. Though the current standard of care for meningiomas includes surgery, the multiplicity of meningiomas in NF2 patients renders complete resection of all developing lesions infeasible. Stereotactic radiosurgery (SRS) may be a viable non-invasive therapeutic alternative to surgery. We describe a particularly challenging case in a 39-year-old male with over 120 lesions who underwent more than 30 surgical procedures, and review the literature...
September 13, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28891076/natural-course-and-characteristics-of-cutaneous-neurofibromas-in-neurofibromatosis-1
#16
Yuko Ehara, Osamu Yamamoto, Kenjiro Kosaki, Yuichi Yoshida
Neurofibromatosis 1 (NF1) is characterized by cutaneous, neurological and osseous manifestations. Most NF1 patients develop cutaneous neurofibromas. However, time-dependent change with aging and the predilection site of cutaneous neurofibromas remain unclear. To clarify the natural course and characteristics of cutaneous neurofibromas, a retrospective study was conducted for 57 NF1 patients who were treated at the Department of Dermatology of Tottori University Hospital between January 2007 and April 2016. For each patient, we investigated the time-dependent changes and the numbers of cutaneous neurofibromas in four body surface regions...
September 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28885122/clinicopathological-variables-of-sporadic-schwannomas-of-peripheral-nerve-in-291-patients-and-expression-of-biologically-relevant-markers
#17
Eric D Young, Davis Ingram, William Metcalf-Doetsch, Dilshad Khan, Ghadah Al Sannaa, Francois Le Loarer, Alexander J F Lazar, John Slopis, Keila E Torres, Dina Lev, Raphael E Pollock, Ian E McCutcheon
OBJECTIVE While sporadic peripheral schwannomas (SPSs) are generally well treated with surgery, their biology is not well understood. Consequently, treatment options are limited. The aim of this study was to provide a comprehensive description of SPS. The authors describe clinicopathological features and treatment outcomes of patients harboring these tumors, and they assess expression of biomarkers using a clinically annotated tissue microarray. Together, these data give new insight into the biology and management of SPS...
September 8, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28882713/a-systematic-review-of-radiosurgery-versus-surgery-for-neurofibromatosis-type-2-vestibular-schwannomas
#18
REVIEW
Lawrance K Chung, Thien P Nguyen, John P Sheppard, Carlito Lagman, Stephen Tenn, Percy Lee, Tania Kaprealian, Robert Chin, Quinton Gopen, Isaac Yang
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an autosomal dominant disease characterized by bilateral vestibular schwannomas (VS). NF2-associated VS (NF2-VS) are routinely treated with microsurgery; however, stereotactic radiosurgery (SRS) has emerged as an effective alternative in recent decades. To better elucidate the role of SRS in NF2-VS, a systematic review of the literature was conducted to compare outcomes of SRS versus surgery. METHODS: PubMed, Web of Science, Scopus, Embase, and Cochrane databases were queried using relevant search terms...
September 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28875382/-tumors-of-the-inner-ear-and-adjacent-structures
#19
REVIEW
J Schittenhelm
Tumors of the inner ear and adjacent structures often present with hearing loss, tinnitus and vertigo due to compression of the traversing cranial nerves. More than 90% of the tumors of the inner ear with or without expansion into the cerebellopontine angle are histologically diagnosed as vestibular schwannomas. Less common tumorous lesions include ectopic meningiomas located in the petrous bone, glomus tympanicum paragangliomas or endolymphatic sac tumors (ELST) originating in the vestibular recess. Most tumors are sporadic, but hereditary disorders have to be considered...
September 5, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28866890/animal-models-of-meningiomas
#20
Christian Mawrin
Meningiomas are frequent intracranial and intraspinal tumors. They are tumors of the elderly, and meningioma growth at certain localizations, as well as recurrent tumors or primary aggressive biology may pose a therapeutic challenge. To understand the growth characteristics of meningiomas, animal models can provide insights both from a biological and therapeutical point of view. Using genetically-engineered mouse models (GEMM), it has been proven that alterations of the neurofibromatosis type 2 (NF2) gene are key steps for benign meningioma development...
June 4, 2017: Chinese Clinical Oncology
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