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https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#1
Daniel S Roberts, William H Slattery, Brian S Chen, Steve R Otto, Marc S Schwartz, Gregory P Lekovic
OBJECTIVE: To report the preliminary outcomes of auditory brainstem implantation (ABI) under a compassionate use protocol for two ABI devices that are not approved by the US Food and Drug Administration. METHODS: A retrospective review was performed of neurofibromatosis type 2 (NF2) patients who underwent microsurgery for vestibular schwannoma (VS) and placement of either the Cochlear ABI541 or Med-El Synchrony ABIs. Peri-operative and device- related complications were reviewed...
January 18, 2017: Cochlear Implants International
https://www.readbyqxmd.com/read/28097979/-this-diagnosis-can-be-extremely-scary
#2
Tamsin Newton-Snow
Neurofibromatosis type 2 (NF2) is a rare genetic disorder that occurs in an estimated one in 35,000 people. The condition is often life-limiting and involves tumours growing on the nervous system, typically on the hearing nerves, brain and spine. While the tumours are mainly benign, they can lead to hearing loss, deafness and problems with balance and mobility. Most patients will need surgery or other treatments for NF2-related brain or spinal cord tumours at some point in their lives.
January 18, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28078568/rediagnosing-one-of-smith-s-patients-john-mccann-with-neuromas-tumours-1849
#3
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated...
January 11, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28003305/co-occurring-mutations-of-tumor-suppressor-genes-lats2-and-nf2-in-malignant-pleural-mesothelioma
#4
Robin Tranchant, Lisa Quetel, Anne Tallet, Clément Meiller, Annie Renier, Leanne de Koning, Aurélien de Reyniès, Francoise Le Pimpec Barthes, Jessica Zucman-Rossi, Marie-Claude Jaurand, Didier Jean
PURPOSE: To better define MPM heterogeneity and identify molecular subtypes of malignant pleural mesothelioma (MPM), we focus on the tumor suppressor gene LATS2, a member of the Hippo signaling pathway, which plays a key role in mesothelial carcinogenesis. EXPERIMENTAL DESIGN: Sixty-one MPM primary cultures established in our laboratory were screened for mutations in LATS2. Gene inactivation was modeled using siRNAs. Gene and protein expressions were analyzed by quantitative RT-PCR, western blot and RPPA...
December 21, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27982762/the-response-of-spinal-cord-ependymomas-to-bevacizumab-in-patients-with-neurofibromatosis-type-2
#5
Katrina A Morris, Shazia K Afridi, D Gareth Evans, Anke E Hensiek, Martin G McCabe, Mark Kellett, Dorothy Halliday, Pieter M Pretorius, Allyson Parry
OBJECTIVE People with neurofibromatosis Type 2 (NF2) have a genetic predisposition to nervous system tumors. NF2-associated schwannomas stabilize or decrease in size in over half of the patients while they are receiving bevacizumab. NF2 patients treated with bevacizumab for rapidly growing schwannoma were retrospectively reviewed with regard to ependymoma prevalence and response to treatment. METHODS The records of 95 NF2 patients receiving bevacizumab were retrospectively reviewed with regard to spinal ependymoma prevalence and behavior...
December 16, 2016: Journal of Neurosurgery. Spine
https://www.readbyqxmd.com/read/27958595/childhood-neurofibromatosis-type-2-nf2-and-related-disorders-from-bench-to-bedside-and-biologically-targeted-therapies
#6
M Ruggieri, A D Praticò, A Serra, L Maiolino, S Cocuzza, P Di Mauro, L Licciardello, P Milone, G Privitera, G Belfiore, M Di Pietro, F Di Raimondo, A Romano, A Chiarenza, M Muglia, A Polizzi, D G Evans
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27927008/microrna-296-5p-promotes-invasiveness-through-downregulation-of-nerve-growth-factor-receptor-and-caspase-8
#7
Hong Lee, Chang Hoon Shin, Hye Ree Kim, Kyung Hee Choi, Hyeon Ho Kim
Glioblastomas (GBM) are very difficult to treat and their aggressiveness is one of the main reasons for this as well as for the frequent recurrences. MicroRNAs posttranscriptionally regulate their target genes through interaction between their seed sequence and 3'UTR of the target mRNAs. We previously reported that miR-296-3p is regulated by neurofibromatosis 2 (NF2) and enhances the invasiveness of GBM cells via SOCS2/STAT3. In this study, we investigated whether miR-296-5p, which originates from the same precursor miRNA as miR-296-3p, can increase the invasiveness of GBM cells...
December 8, 2016: Molecules and Cells
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#8
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
December 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27913619/the-caenorhabditis-elegans-nf2-merlin-molecule-nfm-1-non-autonomously-regulates-neuroblast-migration-and-interacts-genetically-with-the-guidance-cue-slt-1-slit
#9
Matthew P Josephson, Rana Aliani, Megan L Norris, Matthew E Ochs, Mahekta Gujar, Erik A Lundquist
During nervous system development, neurons and their progenitors migrate to their final destinations. In Caenorhabditis elegans, the bilateral Q neuroblasts and their descendants migrate long distances in opposite directions, despite being born in the same posterior region. QR on the right migrates anteriorly and generates the AQR neuron positioned near the head, and QL on the left migrates posteriorly, giving rise to the PQR neuron positioned near the tail. In a screen for genes required for AQR and PQR migration, we identified an allele of nfm-1, which encodes a molecule similar to vertebrate NF2/Merlin, an important tumor suppressor in humans...
December 2, 2016: Genetics
https://www.readbyqxmd.com/read/27912098/characterization-of-hippo-pathway-components-by-gene-inactivation
#10
Steven W Plouffe, Zhipeng Meng, Kimberly C Lin, Brian Lin, Audrey W Hong, Justin V Chun, Kun-Liang Guan
The Hippo pathway is important for regulating tissue homeostasis, and its dysregulation has been implicated in human cancer. However, it is not well understood how the Hippo pathway becomes dysregulated because few mutations in core Hippo pathway components have been identified. Therefore, much work in the Hippo field has focused on identifying upstream regulators, and a complex Hippo interactome has been identified. Nevertheless, it is not always clear which components are the most physiologically relevant in regulating YAP/TAZ...
December 1, 2016: Molecular Cell
https://www.readbyqxmd.com/read/27900643/first-use-of-patient-reported-outcomes-measurement-information-system-promis-measures-in-adults-with-neurofibromatosis
#11
Mojtaba Talaei-Khoei, Eric Riklin, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
The patient reported outcomes measurement information system (PROMIS) provides clinicians and researchers access to reliable, validated measures of physical, mental, and social well-being. The use of PROMIS can facilitate comparisons among clinical subpopulations and with the U.S. general population. We report on the first study using PROMIS measures in patients with neurofibromatosis (NF). Eighty-six adult patients (mean age = 44; 55% female; 87% white; 50% NF1, 41% NF2 and 9% schwannomatosis) completed a battery of PROMIS computerized adaptive tests (CATs)...
November 29, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27900010/a-novel-mutation-of-the-fat2-gene-in-spinal-meningioma
#12
Genshu Tate, Koji Kishimoto, Toshiyuki Mitsuya
Meningiomas may be classified as neurofibromin 2 (NF2)-associated and non-NF2 meningiomas depending on the presence or absence of molecular alterations in the NF2 gene. One of the characteristic histological features of meningiomas is the whorl formation of neoplastic arachnoid cells. NF2 is a human homolog of the Drosophila gene, Merlin (Mer). In humans, NF2 is the gene responsible for the disease neurofibromatosis type II, which results in the development of brain tumors, including acoustic neurinoma and meningioma...
November 2016: Oncology Letters
https://www.readbyqxmd.com/read/27891692/smarce1-mutation-screening-in-classification-of-clear-cell-meningiomas
#13
Miriam J Smith, Soomin Ahn, Jung-Il Lee, Michael Bulman, Daniel du Plessis, Yeon-Lim Suh
AIMS: Clear cell meningioma is a rare subtype of meningioma and shows not only unusual histology, but also unique clinical features. Recently, SMARCE1 mutations have been shown to cause spinal and cranial clear cell meningiomas. We present 12 cases which were diagnosed with a clear cell meningioma in a single institution between 1997 and 2014, and investigate their SMARCE1 mutation status. METHODS AND RESULTS: To investigate the SMARCE1 mutation status of these tumours, we used a combination of Sanger sequencing and multiplex ligation dependent probe amplification analysis and also performed SMARCE1 immunohistochemical staining...
November 28, 2016: Histopathology
https://www.readbyqxmd.com/read/27871894/optimizing-gdna-extraction-from-fresh-frozen-meningioma-tissue-for-downstream-genetic-analysis
#14
D T Proctor, E H Yoo, Z Vujadinovic, S Lama, G van Marle, G R Sutherland
OBJECTIVE: Meningioma is the most common brain tumor. Genetic mutations in meningioma that include deletion of the neurofibromatosis type 2 gene, (NF2), offer diagnostic information on tumor behavior, recurrence and potential response to treatment. Obtaining high-grade genetic material is critical for accurate, sensitive and robust molecular testing. Currently, no standardized procedure exists for extracting gDNA from meningioma, and this problem was addressed in this report. METHOD: This study compared the yield and quality of extracted gDNA from patient meningioma specimens using an optimized phenol chloroform method and two commercial silica column-based extractions kits and tested respective performances as template in qPCR tests and multiplex ligation-dependent probe amplification (MLPA) NF2 screening...
November 19, 2016: Clinical Biochemistry
https://www.readbyqxmd.com/read/27856782/revisiting-neurofibromatosis-type-2-diagnostic-criteria-to-exclude-lztr1-related-schwannomatosis
#15
Miriam J Smith, Naomi L Bowers, Michael Bulman, Carolyn Gokhale, Andrew J Wallace, Andrew T King, Simon K L Lloyd, Scott A Rutherford, Charlotte L Hammerbeck-Ward, Simon R Freeman, D Gareth Evans
OBJECTIVE: To determine the specificity of the current clinical diagnostic criteria for neurofibromatosis type 2 (NF2) relative to the requirement for unilateral vestibular schwannoma (VS) and at least 2 other NF2-related tumors. METHODS: We interrogated our Manchester NF2 database, which contained 205 individuals meeting NF2 criteria who initially presented with a unilateral VS. Of these, 83 (40.7%) went on to develop a contralateral VS. We concentrated our genetic analysis on a group of 70 who initially fulfilled NF2 criteria with a unilateral vestibular schwannoma and at least 2 additional nonintradermal schwannomas...
January 3, 2017: Neurology
https://www.readbyqxmd.com/read/27818180/rac1-mediated-dna-damage-and-inflammation-promote-nf2-tumorigenesis-but-also-limit-cell-cycle-progression
#16
Yuhao Shi, Saumya R Bollam, Shannon M White, Sean Z Laughlin, Garrett T Graham, Mandheer Wadhwa, Hengye Chen, Chan Nguyen, Jeremie Vitte, Marco Giovannini, Jeffery Toretsky, Chunling Yi
Merlin encoded by the Nf2 gene is a bona fide tumor suppressor that has been implicated in regulation of both the Hippo-Yap and Rac1-Pak1 pathways. Using genetically engineered murine liver models, we show that co-deletion of Rac1 with Nf2 blocks tumor initiation but paradoxically exacerbates hepatomegaly induced by Nf2 loss, which can be suppressed either by treatment with pro-oxidants or by co-deletion of Yap. Our results suggest that while Yap acts as the central driver of proliferation during Nf2 tumorigenesis, Rac1 primarily functions as an inflammation switch by inducing reactive oxygen species that, on one hand, induce nuclear factor κB signaling and expression of inflammatory cytokines, and on the other activate p53 checkpoint and senescence programs dampening the cyclin D1-pRb-E2F1 pathway...
November 21, 2016: Developmental Cell
https://www.readbyqxmd.com/read/27816997/gamma-knife-radiosurgery-for-neurofibromatosis-type-2-associated-meningiomas-a-22-year-patient-series
#17
Brandon Birckhead, Terence T Sio, Bruce E Pollock, Michael J Link, Nadia N Laack
Neurofibromatosis type 2 (NF2) is a debilitating genetic condition with potential development of multiple meningiomas. We report our experience treating a series of NF2-associated intracranial meningiomas with Gamma Knife radiosurgery (GKRS). Between 1992 and 2013, 15 consecutive patients (age 20-54 years) with 62 intracranial meningiomas were treated with single-fraction GKRS. Fifty-five percent of tumors involved the convexity or parasagittal/falx. The median prescription dose was 16 Gy (range 13-20 Gy)...
November 5, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27813512/genomic-profiling-of-malignant-peritoneal-mesothelioma-reveals-recurrent-alterations-in-epigenetic-regulatory-genes-bap1-setd2-and-ddx3x
#18
Nancy M Joseph, Yunn-Yi Chen, Anthony Nasr, Iwei Yeh, Eric Talevich, Courtney Onodera, Boris C Bastian, Joseph T Rabban, Karuna Garg, Charles Zaloudek, David A Solomon
Malignant mesothelioma is a rare cancer that arises from the mesothelial cells that line the pleural cavity and less commonly from the peritoneal lining of the abdomen and pelvis. Most pleural mesotheliomas arise in patients with a history of asbestos exposure, whereas the association of peritoneal mesotheliomas with exposure to asbestos and other potential carcinogens is less clear, suggesting that the genetic alterations that drive malignant peritoneal mesothelioma may be unique from those in pleural mesothelioma...
November 4, 2016: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/27805058/sulforaphane-a-natural-component-of-broccoli-inhibits-vestibular-schwannoma-growth-in-vitro-and-in-vivo
#19
Bo Gyung Kim, Takeshi Fujita, Konstantina M Stankovic, D Bradley Welling, In Seok Moon, Jae Young Choi, Jieun Yun, Jong Soon Kang, Jong Dae Lee
Vestibular schwannoma (VS) is an intracranial tumor that causes significant morbidity, including hearing loss, tinnitus, dizziness, and possibly even death from brainstem compression. However, FDA-approved pharmacologic treatments for VS do not exist. Sulforaphane (SFN) is a naturally occurring isothiocyanate found in cruciferous vegetables, such as broccoli, with potent chemoprotective effects in several cell types. Our objective was to determine whether SFN is effective against VS in vitro and in vivo. Human primary VS cells, HEI-193 schwannoma cells, and SC4 Nf2(-/-) Schwann cells were used to investigate the inhibitory effects of SFN in vitro...
November 2, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27796735/toxicity-profile-of-bevacizumab-in-the-uk-neurofibromatosis-type-2-cohort
#20
Katrina A Morris, John F Golding, Claire Blesing, D Gareth Evans, Rosalie E Ferner, Karen Foweraker, Dorothy Halliday, Raj Jena, Catherine McBain, Martin G McCabe, Angela Swampillai, Nicola Warner, Shaun Wilson, Allyson Parry, Shazia K Afridi
Bevacizumab is considered an established part of the treatment strategies available for schwannomas in patients with Neurofibromatosis type 2 (NF2). In the UK, it is available through NHS National Specialized Commissioning to NF2 patients with a rapidly growing target schwannoma. Regrowth of the tumour on suspension of treatment is often observed resulting in prolonged periods of exposure to bevacizumab to control the disease. Hypertension and proteinuria are common events with bevacizumab use and there are concerns with regards to the long-term risks of prolonged treatment...
October 28, 2016: Journal of Neuro-oncology
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