keyword
MENU ▼
Read by QxMD icon Read
search

Nf2

keyword
https://www.readbyqxmd.com/read/29781505/cerebral-vasculopathy-in-childhood-neurofibromatosis-type-2-cause-for-concern
#1
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
#2
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/29770198/recent-advances-in-managing-understanding-meningioma
#3
REVIEW
Nawal Shaikh, Karan Dixit, Jeffrey Raizer
Meningiomas are the most common adult primary intracranial tumor. Despite their higher incidence, there have not-until recently-been as many advances in understanding and managing meningiomas. Thus far, two broad classes of meningiomas have emerged on the basis of their mutational profile: those driven by neurofibromatosis 2 (NF2) inactivation and those with non-NF2 driver gene alterations, such as mammalian target of rapamycin and Hedgehog, Wingless/b-catenin, Notch, transforming growth factor-b receptor, mitogen-activated protein kinase, and phospholipase C pathway alterations...
2018: F1000Research
https://www.readbyqxmd.com/read/29761250/sarcoma-in-neurofibromatosis-2-case-report-and-review-of-the-literature
#4
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
#5
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/29731991/targeted-next-generation-sequencing-of-well-differentiated-dedifferentiated-liposarcoma-reveals-novel-gene-amplifications-and-mutations
#6
Neeta Somaiah, Hannah C Beird, Andrea Barbo, Juhee Song, Kenna R Mills Shaw, Wei-Lien Wang, Karina Eterovic, Ken Chen, Alexander Lazar, Anthony P Conley, Vinod Ravi, Patrick Hwu, Andrew Futreal, George Simon, Funda Meric-Bernstam, David Hong
Well-differentiated/dedifferentiated liposarcoma is a common soft tissue sarcoma with approximately 1500 new cases per year. Surgery is the mainstay of treatment but recurrences are frequent and systemic options are limited. 'Tumor genotyping' is becoming more common in clinical practice as it offers the hope of personalized targeted therapy. We wanted to evaluate the results and the clinical utility of available next-generation sequencing panels in WD/DD liposarcoma. Patients who had their tumor sequenced by either FoundationOne ( n = 13) or the institutional T200/T200...
April 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29731861/analysis-of-yap1-and-taz-expression-by-immunohistochemical-staining-in-malignant-mesothelioma-and-reactive-mesothelial-cells
#7
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/29715273/neurofibromatosis-type-2-tumor-suppressor-protein-is-expressed-in-oligodendrocytes-and-regulates-cell-proliferation-and-process-formation
#8
Andrea Toledo, Elena Grieger, Khalad Karram, Helen Morrison, Stephan L Baader
The neurofibromatosis type 2 (NF2) tumor suppressor protein Merlin functions as a negative regulator of cell growth and actin dynamics in different cell types amongst which Schwann cells have been extensively studied. In contrast, the presence and the role of Merlin in oligodendrocytes, the myelin forming cells within the CNS, have not been elucidated. In this work, we demonstrate that Merlin immunoreactivity was broadly distributed in the white matter throughout the central nervous system. Following Merlin expression during development in the cerebellum, Merlin could be detected in the cerebellar white matter tract at early postnatal stages as shown by its co-localization with Olig2-positive cells as well as in adult brain sections where it was aligned with myelin basic protein containing fibers...
2018: PloS One
https://www.readbyqxmd.com/read/29712669/proliferation-independent-role-of-nf2-merlin-in-limiting-biliary-morphogenesis
#9
Samira Benhamouche-Trouillet, Evan O'Loughlin, Ching-Hui Liu, William Polacheck, Julien Fitamant, Mary McKee, Nabeel El-Bardeesy, Christopher S Chen, Andrea I McClatchey
The architecture of individual cells and cell collectives enables functional specification, a prominent example being the formation of epithelial tubes that transport fluid or gas in many organs. The intrahepatic bile ducts (IHBDs) form a tubular network within the liver parenchyma that transports bile to the intestine. Aberrant biliary 'neoductulogenesis' is also a feature of several liver pathologies including tumorigenesis. However, the mechanism of biliary tube morphogenesis in development or disease is not known...
April 30, 2018: Development
https://www.readbyqxmd.com/read/29709009/nf2-signaling-pathway-plays-a-pro-apoptotic-role-in-%C3%AE-adrenergic-receptor-stimulated-cardiac-myocyte-apoptosis
#10
Suman Dalal, Barbara Connelly, Mahipal Singh, Krishna Singh
METHODS AND RESULTS: Treatment of adult rat ventricular myocytes (ARVMs) with β-AR agonist (isoproterenol) for 15 min increased phosphorylation (serine-518) and sumoylation of NF2. Co-immunoprecipitation assay confirmed β-AR-stimulated sumoylation of NF2. β-AR stimulation enhanced nuclear translocation of phosphorylated and sumoylated NF2. Specific inhibition of β1-AR and protein kinase A (PKA) decreased β-AR-stimulated increase in NF2 post-translational modifications, while inhibition of β2-AR had no effect...
2018: PloS One
https://www.readbyqxmd.com/read/29702972/microsurgery-for-patients-diagnosed-with-neurofibromatosis-type-2-complicated-by-vestibular-schwannomas-clinical-experience-and-strategy-for-treatments
#11
Li-Hua Chen, Hong-Tian Zhang, Ru-Xiang Xu, Li Zhang, Wen-De Li, Kai Sun
Most patients diagnosed with neurofibromatosis type 2 (NF2) have bilateral vestibular schwannomas (VS). Through reviewing surgical method and clinical outcomes, we tried to find out a strategy for treatments in NF2 patients with VS.We retrospectively reviewed patients diagnosed pathological NF2 and have had microsurgery (MS) for VS in the PLA Army General Hospital. Seventeen patients were included from January 2000 to December 2016. Fifteen patients had progressive hearing impairment, and 7 ears were totally deaf...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29689640/haploid-genetic-screens-identify-genetic-vulnerabilities-to-microtubule-targeting-agents
#12
Nora M Gerhards, Vincent A Blomen, Merve Mutlu, Joppe Nieuwenhuis, Denise Howald, Charlotte Guyader, Jos Jonkers, Thijn R Brummelkamp, Sven Rottenberg
The absence of biomarkers to accurately predict anti-cancer therapy response remains a major obstacle in clinical oncology. We applied a genome-wide loss-of-function screening approach in human haploid cells to characterize genetic vulnerabilities to classical microtubule-targeting agents. Using docetaxel and vinorelbine, two well-established chemotherapeutic agents, we sought to identify genetic alterations sensitizing human HAP1 cells to these drugs. Despite the fact that both drugs act on microtubules, a set of distinct genes were identified whose disruption affect drug sensitivity...
April 24, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29685074/clinical-and-molecular-characterization-of-neurofibromatosis-in-southern-brazil
#13
Clévia Rosset, Filippo Vairo, Isabel Cristina Bandeira, Maievi Fonini, Cristina Brinckmann Oliveira Netto, Patricia Ashton-Prolla
OBJECTIVES: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. METHODS: Ninety-three unrelated probands with NF1 and 7 unrelated probands with NF2 features were recruited from an Oncogenetics center in Southern Brazil...
April 24, 2018: Expert Review of Molecular Diagnostics
https://www.readbyqxmd.com/read/29683790/multicenter-phase-ib-trial-of-carboxyamidotriazole-orotate-and-temozolomide-for-recurrent-and-newly-diagnosed-glioblastoma-and-other-anaplastic-gliomas
#14
Antonio Omuro, Kathryn Beal, Katharine McNeill, Robert J Young, Alissa Thomas, Xuling Lin, Robert Terziev, Thomas J Kaley, Lisa M DeAngelis, Mariza Daras, Igor T Gavrilovic, Ingo Mellinghoff, Eli L Diamond, Andrew McKeown, Malbora Manne, Andrew Caterfino, Krishna Patel, Linda Bavisotto, Greg Gorman, Michael Lamson, Philip Gutin, Viviane Tabar, Debyani Chakravarty, Timothy A Chan, Cameron W Brennan, Elizabeth Garrett-Mayer, Rashida A Karmali, Elena Pentsova
Purpose Carboxyamidotriazole orotate (CTO) is a novel oral inhibitor of non-voltage-dependent calcium channels with modulatory effects in multiple cell-signaling pathways and synergistic effects with temozolomide (TMZ) in glioblastoma (GBM) models. We conducted a phase IB study combining CTO with two standard TMZ schedules in GBM. Methods In cohort 1, patients with recurrent anaplastic gliomas or GBM received escalating doses of CTO (219 to 812.5 mg/m2 once daily or 600 mg fixed once-daily dose) combined with TMZ (150 mg/m2 5 days during each 28-day cycle)...
April 23, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29681099/2016-children-s-tumor-foundation-conference-on-neurofibromatosis-type-1-neurofibromatosis-type-2-and-schwannomatosis
#15
Michael J Fisher, Allan J Belzberg, Peter de Blank, Thomas De Raedt, Florent Elefteriou, Rosalie E Ferner, Marco Giovannini, Gordon J Harris, Michel Kalamarides, Matthias A Karajannis, AeRang Kim, Conxi Lázaro, Lu Q Le, Wei Li, Robert Listernick, Staci Martin, Helen Morrison, Eric Pasmant, Nancy Ratner, Elisabeth Schorry, Nicole J Ullrich, David Viskochil, Brian Weiss, Brigitte C Widemann, Yuan Zhu, Annette Bakker, Eduard Serra
Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism...
May 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29679944/epigallocatechin-3-gallate-attenuates-microcystin-lr-induced-apoptosis-in-human-umbilical-vein-endothelial-cells-through-activation-of-the-nrf2-ho-1-pathway
#16
Jun Shi, Min Zhang, Libin Zhang, Huipin Deng
Our previous study showed that the tea extract, epigallocatechin-3-gallate (EGCG), protects against microcystin-LR (MC-LR) -mediated apoptosis of human umbilical vein endothelial cells (HUVECs); however, the mechanism underlying MC-LR-induced HUVEC apoptosis remains incompletely understood. In this study, we investigated whether the nuclear factor erythroid-like 2 (NRF2)/heme oxygenase-1 (HO-1) pathway, which regulates antioxidant transcriptional regulation of oxidative stress and apoptosis, is involved in this process...
April 18, 2018: Environmental Pollution
https://www.readbyqxmd.com/read/29665674/hippo-signaling-circuit-and-divergent-tissue-growth-in-mammalian-eye
#17
Kyeong Hwan Moon, Jin Woo Kim
Vertebrate organ development is accompanied by demarcation of tissue compartments, which grow coordinately with their neighbors. Hence, perturbing the coordinative growth of neighboring tissue compartments frequently results in organ malformation. The growth of tissue compartments is regulated by multiple intercellular and intracellular signaling pathways, including the Hippo signaling pathway that limits the growth of various organs. In the optic neuroepithelial continuum, which is partitioned into the retina, retinal pigment epithelium (RPE) and ciliary margin (CM) during eye development, the Hippo signaling activity operates differentially, as it does in many tissues...
April 11, 2018: Molecules and Cells
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#18
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29656754/malignant-cells-from-pleural-fluids-in-malignant-mesothelioma-patients-reveal-novel-mutations
#19
Sophie Sneddon, Ian Dick, Y C Gary Lee, A W Bill Musk, Ann-Marie Patch, John V Pearson, Nicola Waddell, Richard J N Allcock, Robert A Holt, Bruce W S Robinson, Jenette Creaney
OBJECTIVES: Malignant mesothelioma (MM) is an asbestos related tumour affecting cells of serosal cavities. More than 70% of MM patients develop pleural effusions which contain tumour cells, representing a readily accessible source of malignant cells for genetic analysis. Although common somatic mutations and losses have been identified in solid MM tumours, the characterization of tumour cells within pleural effusions could provide novel insights but is little studied. MATERIALS AND METHODS: DNA and RNA were extracted from cells from short term cultures of 27 human MM pleural effusion samples...
May 2018: Lung Cancer: Journal of the International Association for the Study of Lung Cancer
https://www.readbyqxmd.com/read/29649040/improvement-in-patient-reported-hearing-after-treatment-with-bevacizumab-in-people-with-neurofibromatosis-type-2
#20
Victoria Huang, Amanda L Bergner, Chris Halpin, Vanessa L Merker, Monica R Sheridan, Brigitte C Widemann, Jaishri O Blakeley, Scott R Plotkin
OBJECTIVE: Assess patient-reported outcomes (PRO) for hearing and tinnitus relative to clinical hearing assessment in people with neurofibromatosis 2 (NF2) associated hearing loss. STUDY DESIGN: Prospective, open label, phase-II clinical trial with PRO administered pre-, post-, and after treatment. SETTING: Three tertiary referral centers. PATIENTS: Fourteen patients with NF2, median age of 30 years (range, 14-79 yr) and progressive hearing loss (median baseline word recognition score, 60%; range, 13-82%)...
April 11, 2018: Otology & Neurotology
keyword
keyword
77364
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"