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https://www.readbyqxmd.com/read/28211981/first-report-of-factors-associated-with-satisfaction-in-patients-with-neurofibromatosis
#1
Eric Riklin, Mojtaba Talaei-Kheoi, Vanessa L Merker, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
Patient satisfaction is an integral part of quality health care. We assessed whether health literacy and psychosocial factors are associated with patient satisfaction among adults with neurofibromatosis. Eighty adults (mean age = 44 years; 55% female, 87% white) with NF (50% NF1, 41% NF2, and 9% schwannomatosis) completed an adapted Functional, Communicative, and Critical Health Literacy Questionnaire (FCCHL), the Health Literacy Assessment, a series of Patient Reported Outcome Measures Information System (PROMIS) psychosocial tests, and demographics before the medical visit...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28195122/integrated-genomic-analyses-of-de-novo-pathways-underlying-atypical-meningiomas
#2
Akdes Serin Harmancı, Mark W Youngblood, Victoria E Clark, Süleyman Coşkun, Octavian Henegariu, Daniel Duran, E Zeynep Erson-Omay, Leon D Kaulen, Tong Ihn Lee, Brian J Abraham, Matthias Simon, Boris Krischek, Marco Timmer, Roland Goldbrunner, S Bülent Omay, Jacob Baranoski, Burçin Baran, Geneive Carrión-Grant, Hanwen Bai, Ketu Mishra-Gorur, Johannes Schramm, Jennifer Moliterno, Alexander O Vortmeyer, Kaya Bilgüvar, Katsuhito Yasuno, Richard A Young, Murat Günel
Meningiomas are mostly benign brain tumours, with a potential for becoming atypical or malignant. On the basis of comprehensive genomic, transcriptomic and epigenomic analyses, we compared benign meningiomas to atypical ones. Here, we show that the majority of primary (de novo) atypical meningiomas display loss of NF2, which co-occurs either with genomic instability or recurrent SMARCB1 mutations. These tumours harbour increased H3K27me3 signal and a hypermethylated phenotype, mainly occupying the polycomb repressive complex 2 (PRC2) binding sites in human embryonic stem cells, thereby phenocopying a more primitive cellular state...
February 14, 2017: Nature Communications
https://www.readbyqxmd.com/read/28193203/first-insight-into-the-somatic-mutation-burden-of-neurofibromatosis-type-2-associated-grade-i-and-grade-ii-meningiomas-a-case-report-comprehensive-genomic-study-of-two-cranial-meningiomas-with-vastly-different-clinical-presentation
#3
Ramita Dewan, Alexander Pemov, Amalia S Dutra, Evgenia D Pak, Nancy A Edwards, Abhik Ray-Chaudhury, Nancy F Hansen, Settara C Chandrasekharappa, James C Mullikin, Ashok R Asthagiri, John D Heiss, Douglas R Stewart, Anand V Germanwala
BACKGROUND: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. CASE PRESENTATION: Here, we present an in-depth genomic study of benign and atypical meningiomas, both from a single NF2 patient...
February 13, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28185919/rheostatic-cd44-isoform-expression-and-its-association-with-oxidative-stress-in-human-malignant-mesothelioma
#4
Shan Hwu Chew, Yasumasa Okazaki, Shinya Akatsuka, Shenqi Wang, Li Jiang, Yuuki Ohara, Fumiya Ito, Hideyuki Saya, Yoshitaka Sekido, Shinya Toyokuni
CD44 exists as a standard (CD44s) isoform and different variant isoforms (CD44v) due to alternative splicing. While the complex nature of these different isoforms has not been fully elucidated, CD44v expression has been shown to exert oncogenic effects by promoting tumor progression, metastasis and resistance of tumor cells to chemotherapy. One of the CD44v isoforms, CD44v8-10, was recently shown to protect cancer cells from oxidative stress by increasing the synthesis of glutathione (GSH). However, data regarding CD44 isoform expression in malignant mesothelioma (MM) are still lacking...
February 6, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28177878/whole-genome-sequencing-identifies-new-genetic-alterations-in-meningiomas
#5
Mei Tang, Heng Wei, Lu Han, Jiaojiao Deng, Yuelong Wang, Meijia Yang, Yani Tang, Gang Guo, Liangxue Zhou, Aiping Tong
The major known genetic contributor to meningioma formation was NF2, which is disrupted by mutation or loss in about 50% of tumors. Besides NF2, several recurrent driver mutations were recently uncovered through next-generation sequencing. Here, we performed whole-genome sequencing across 7 tumor-normal pairs to identify somatic genetic alterations in meningioma. As a result, Chromatin regulators, including multiple histone members, histone-modifying enzymes and several epigenetic regulators, are the major category among all of the identified copy number variants and single nucleotide variants...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28163040/looking-for-the-needle-in-the-haystack-proteome-based-identification-of-treatment-targets-in-nf2-related-nervous-system-tumors
#6
Christian Mawrin
No abstract text is available yet for this article.
February 1, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28162254/medical-treatment-in-neurofibromatosis-type-2-review-of-the-literature-and-presentation-of-clinical-reports
#7
S Goutagny, M Kalamarides
The understanding of the molecular pathways underlying tumor development in neurofibromatosis type 2 (NF2) is increasing. Thus, repositioning drugs, drug therapies that are already clinically available for various cancers, appear potentially promising for NF2 patients. Based on preclinical data from in vitro or animal models, five different treatments have been proposed for selected NF2 cases. Evaluation of bevacizumab, a monoclonal antibody against VEGF has mainly been reported in retrospective studies; it has been reported to induce hearing improvement and tumor shrinkage in more than 50% of progressive vestibular schwannomas (VS)...
February 2, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28149906/targeting-nf2-hippo-yap-signaling-pathway-for-cardioprotection-after-ischemia-reperfusion-injury
#8
COMMENT
Masum M Mia, Ayshwarya L Chelakkot-Govindalayathil, Manvendra K Singh
No abstract text is available yet for this article.
December 2016: Annals of Translational Medicine
https://www.readbyqxmd.com/read/28128697/gamma-knife-radiosurgery-for-treatment-of-growing-vestibular-schwannomas-in-patients-with-neurofibromatosis-type-2-a-matched-cohort-study-with-sporadic-vestibular-schwannomas
#9
Ivo J Kruyt, Jeroen B Verheul, Patrick E J Hanssens, Henricus P M Kunst
OBJECTIVE Neurofibromatosis Type 2 (NF2) is a tumor syndrome characterized by an autosomal dominant pattern of inheritance. The hallmark of NF2 is the development of bilateral vestibular schwannomas (VSs), generally by 30 years of age. One of the first-line treatment options for small to medium-large VSs is radiosurgery. Although radiosurgery shows excellent results in sporadic VS, its use in NF2-related VS is still a topic of dispute. The aim of this study was to evaluate long-term tumor control, hearing preservation rates, and factors influencing outcome of optimally dosed, contemporary Gamma Knife radiosurgery (GKRS) for growing VSs in patients with NF2 and compare the findings to data obtained in patients with sporadic VS also treated by means of GKRS...
January 27, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28128429/-neurofibromatosis-type-2-in-childhood-a-clinical-characterization
#10
C M Hinojosa-Mateo, J A Reche-Sainz, A Hernandez-Nunez, M Ramos-Lopez, A Arpa-Fernandez, D Natera-de Benito
INTRODUCTION: Neurofibromatosis type 2 (NF2) is a dominantly inherited neuroectodermal syndrome that predispose to the development of tumors of the central and peripheral nervous system. Additional features include eye and skin abnormalities. CASE REPORT: A 12-year old male with diagnosis of MF2 according to Baser et al and presentation in childhood was included. A comprehensive bibliographic review of evolution of the diagnostic criteria for NF2 in children was performed...
February 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28126595/global-proteome-and-phospho-proteome-analysis-of-merlin-deficient-meningioma-and-schwannoma-identifies-pdlim2-as-a-novel-therapeutic-target
#11
Kayleigh Bassiri, Sara Ferluga, Vikram Sharma, Nelofer Syed, Claire L Adams, Edwin Lasonder, C Oliver Hanemann
Loss or mutation of the tumour suppressor Merlin predisposes individuals to develop multiple nervous system tumours, including schwannomas and meningiomas, sporadically or as part of the autosomal dominant inherited condition Neurofibromatosis 2 (NF2). These tumours display largely low grade features but their presence can lead to significant morbidity. Surgery and radiotherapy remain the only treatment options despite years of research, therefore an effective therapeutic is required. Unbiased omics studies have become pivotal in the identification of differentially expressed genes and proteins that may act as drug targets or biomarkers...
January 18, 2017: EBioMedicine
https://www.readbyqxmd.com/read/28123914/bevacizumab-for-treatment-refractory-pain-control-in-neurofibromatosis-patients
#12
Xu W Linda, Lawrence D Recht
Chronic pain is a well-known morbidity associated with neurofibromatosis (NF) for which better therapies are needed. Surgery, radiation, and pain medications have been utilized, but often fail to relieve debilitating pain. One patient at our institution was noted to have near complete resolution of pain after treatment with bevacizumab for progressive neurologic deficit associated with NF2, suggesting its potential as an effective pain control method. We aim to better characterize the use of bevacizumab for pain control in this subset of patients...
December 18, 2016: Curēus
https://www.readbyqxmd.com/read/28098509/-compassionate-use-protocol-for-auditory-brainstem-implantation-in-neurofibromatosis-type-2-early-house-ear-institute-experience
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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...
February 2017: Human Genetics
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