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https://www.readbyqxmd.com/read/28050470/neurofibromatosis-type-1-presenting-with-ophthalmic-features-a-case-series
#1
Gunjan Jain, Vaibhav Kumar Jain, Indra Kumar Sharma, Reena Sharma, Neeraj Saraswat
Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys...
November 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28048352/th-ef-brb-01-best-in-physics-therapy-dosimetric-comparison-of-4%C3%AF-and-clinical-imrt-for-cortex-sparing-high-grade-glioma-treatment
#2
K Woods, R Karunamuni, A Tran, V Yu, D Nguyen, J Hattangadi-Gluth, K Sheng
PURPOSE: Thinning of the cerebral cortex has been observed in patients treated with fractionated partial brain radiation therapy and may contribute to cognitive decline following treatment. The extent of this thinning is dose-dependent, and was shown comparable to that of neurodegenerative diseases such as Alzheimer's disease at one year post-therapy. This study investigates whether 4π radiotherapy can enable better sparing of the cortex and other critical structures when compared to conventional clinical IMRT plans...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28047779/we-h-207a-08-characterization-of-a-broad-spectrum-cancer-targeted-mri-contrast-agent
#3
C Brunnquell, R Zhang, A Pinchuk, J Weichert
PURPOSE: To characterize the relaxation properties and tumor targeting capabilities of a novel alkylphosphocholine (APC) analog MR contrast agent, Gd-DO3A-404. METHODS: Relaxivities were measured via T1 and T2 mapping of Gd-DO3A-404 with inversion recovery and spin echo pulse sequences, respectively. Uptake was characterized in flank xenograft models of non-small cell lung cancer (A549) and glioma (U87) and compared with uptake of Dotarem. Mice (N=3 per model per agent) were delivered 2...
June 2016: Medical Physics
https://www.readbyqxmd.com/read/28039362/defining-the-temporal-course-of-murine-neurofibromatosis-1-optic-gliomagenesis-reveals-a-therapeutic-window-to-attenuate-retinal-dysfunction
#4
Joseph A Toonen, Yu Ma, David H Gutmann
BACKGROUND: Optic gliomas arising in the neurofibromatosis type 1 (NF1) cancer predisposition syndrome cause reduced visual acuity in 30%-50% of affected children. Since human specimens are rare, genetically engineered mouse (GEM) models have been successfully employed for preclinical therapeutic discovery and validation. However, the sequence of cellular and molecular events that culminate in retinal dysfunction and vision loss has not been fully defined relevant to potential neuroprotective treatment strategies...
December 29, 2016: Neuro-oncology
https://www.readbyqxmd.com/read/28030597/enoblock-does-not-inhibit-the-activity-of-the-glycolytic-enzyme-enolase
#5
Nikunj Satani, Yu-Hsi Lin, Naima Hammoudi, Sudhir Raghavan, Dimitra K Georgiou, Florian L Muller
Inhibition of glycolysis is of great potential for the treatment of cancer. However, inhibitors of glycolytic enzymes with favorable pharmacological profiles have not been forthcoming. Due to the nature of their active sites, most high-affinity transition-state analogue inhibitors of glycolysis enzymes are highly polar with poor cell permeability. A recent publication reported a novel, non-active site inhibitor of the glycolytic enzyme Enolase, termed ENOblock (N-[2-[2-2-aminoethoxy)ethoxy]ethyl]4-4-cyclohexylmethyl)amino]6-4-fluorophenyl)methyl]amino]1,3,5-triazin-2-yl]amino]benzeneacetamide)...
2016: PloS One
https://www.readbyqxmd.com/read/28009226/report-of-effective-trametinib-therapy-in-2-children-with-progressive-hypothalamic-optic-pathway-pilocytic-astrocytoma-documentation-of-volumetric-response
#6
Catherine Miller, Daniel Guillaume, Kathryn Dusenbery, H Brent Clark, Christopher Moertel
Brain tumors are the most common solid tumor in childhood, and astrocytomas account for the largest proportion of these tumors. Increasing sophistication in genetic testing has allowed for the detection of specific mutations within tumor subtypes that may represent targets for individualized tumor treatment. The mitogen-activating protein kinase (MAPK) pathway and, more specifically, BRAF mutations have been shown to be prevalent in pediatric pilocytic astrocytomas and may represent one such area to target...
December 23, 2016: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28001089/the-role-of-the-immune-system-in-neurofibromatosis-type-1-associated-nervous-system-tumors
#7
Souvik Karmakar, Karlyne M Reilly
With the recent development of new anticancer therapies targeting the immune system, it is important to understand which immune cell types and cytokines play critical roles in suppressing or promoting tumorigenesis. The role of mast cells in promoting neurofibroma growth in neurofibromatosis type 1 (NF1) patients was hypothesized decades ago. More recent experiments in mouse models have demonstrated the causal role of mast cells in neurofibroma development and of microglia in optic pathway glioma development...
December 21, 2016: CNS Oncology
https://www.readbyqxmd.com/read/27989983/optical-neuronavigation-without-rigid-head-fixation-during-awake-surgery
#8
C F Freyschlag, J Kerschbaumer, W Eisner, D Pinggera, K R Brawanski, O Petr, M Bauer, A E Grams, T Bodner, M Seiz, C Thomé
INTRODUCTION: Optical neuronavigation without rigid pin fixation of the head may lead to inaccurate results due to patient's movements in case of awake surgery. The aim of this study was to report our results, using a skull-mounted reference array for optical tracking in patients undergoing awake craniotomy for eloquent gliomas. METHODS: Between March 2013 and December 2014, eighteen consecutive patients (10 male, 8 female) with (fronto-)temporal (n=16) or frontoparietal (perirolandic, n=2) lesions underwent awake craniotomy without rigid pin fixation...
October 27, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27976555/are-the-methylenetetrahydrofolate-reductase-1298-and-677-gene-polymorphisms-related-to-optic-glioma-and-hamartoma-risk-in-neurofibromatosis-type-1-patients
#9
Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27934068/increased-gold-nanoparticle-retention-in-brain-tumors-by-in-situ-enzyme-induced-aggregation
#10
Shaobo Ruan, Chuan Hu, Xian Tang, Xingli Cun, Wei Xiao, Kairong Shi, Qin He, Huile Gao
The treatment of brain tumors remains a challenge due to the limited accumulation of drugs and nanoparticles. Here, we triggered the aggregation of gold nanoparticles (AuNPs) using legumain to enhance the retention of chemotherapeutics in brain tumors. This nanoplatform, AuNPs-A&C, is comprised of Ala-Ala-Asn-Cys-Lys modified AuNPs (AuNPs-AK) and 2-cyano-6-aminobenzothiazole modified AuNPs (AuNPs-CABT). AuNPs-AK could be hydrolyzed to expose the 1,2-thiolamino groups on AuNPs-AK in the presence of legumain, which occurs by a click cycloaddition with the contiguous cyano group on AuNPs-CABT, resulting in formation of AuNPs aggregates...
November 22, 2016: ACS Nano
https://www.readbyqxmd.com/read/27923908/estrogen-activation-of-microglia-underlies-the-sexually-dimorphic-differences-in-nf1-optic-glioma-induced-retinal-pathology
#11
Joseph A Toonen, Anne C Solga, Yu Ma, David H Gutmann
Children with neurofibromatosis type 1 (NF1) develop low-grade brain tumors throughout the optic pathway. Nearly 50% of children with optic pathway gliomas (OPGs) experience visual impairment, and few regain their vision after chemotherapy. Recent studies have revealed that girls with optic nerve gliomas are five times more likely to lose vision and require treatment than boys. To determine the mechanism underlying this sexually dimorphic difference in clinical outcome, we leveraged Nf1 optic glioma (Nf1-OPG) mice...
January 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/27903182/single-session-gamma-knife-radiosurgery-for-optic-pathway-hypothalamic-gliomas
#12
Amr M N El-Shehaby, Wael A Reda, Khaled M Abdel Karim, Reem M Emad Eldin, Ahmed M Nabeel
OBJECTIVE Because of their critical and central location, it is deemed necessary to fractionate when considering irradiating optic pathway/hypothalamic gliomas. Stereotactic fractionated radiotherapy is considered safer when dealing with gliomas in this location. In this study, the safety and efficacy of single-session stereotactic radiosurgery for optic pathway/hypothalamic gliomas were reviewed. METHODS Between December 2004 and June 2014, 22 patients with optic pathway/hypothalamic gliomas were treated by single-session Gamma Knife radiosurgery...
December 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27894359/can-morphological-mri-differentiate-between-primary-central-nervous-system-lymphoma-and-glioblastoma
#13
H Malikova, E Koubska, J Weichet, J Klener, A Rulseh, R Liscak, Z Vojtech
BACKGROUND: Primary central nervous system lymphoma (PCNSL) is a rare, aggressive brain neoplasm that accounts for roughly 2-6% of primary brain tumors. In contrast, glioblastoma (GBM) is the most frequent and severe glioma subtype, accounting for approximately 50% of diffuse gliomas. The aim of the present study was to evaluate morphological MRI characteristics in histologically-proven PCNSL and GBM at the time of their initial presentation. METHODS: We retrospectively evaluated standard diagnostic MRI examinations in 54 immunocompetent patients (26 female, 28 male; age 62...
November 29, 2016: Cancer Imaging: the Official Publication of the International Cancer Imaging Society
https://www.readbyqxmd.com/read/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#14
Emily R Sites, Teresa A Smolarek, Lisa J Martin, David H Viskochil, David A Stevenson, Nicole J Ullrich, Ludwine M Messiaen, Elizabeth K Schorry
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27858947/ophthalmologic-screening-for-optic-pathway-glioma-in-neurofibromatosis-type-1
#15
EDITORIAL
Rudolph S Wagner
No abstract text is available yet for this article.
November 1, 2016: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/27857781/delayed-hemorrhage-after-surgery-and-radiation-in-suprasellar-pilocytic-astrocytomas
#16
REVIEW
Mazda K Turel, Tim-Rasmus Kiehl, Fred Gentili
Delayed intracranial hemorrhage is a rare complication of treatment for central nervous system tumors. This may be secondary to malignant transformation of the tumor or vasculopathy related to radiation therapy (RT). While most reports on radiation-induced vasculopathy in children with optic pathway gliomas are associated with ischemic complications, there are only two reports of hemorrhagic complications in these patients. In both cases, the hemorrhage was asymptomatic and remote from the site of the original tumor but within the field of irradiation...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27847580/expanded-endoscopic-transnasal-approach-to-the-chordoid-glioma-of-the-third-ventricle-the-first-case-ever-reported
#17
Mehdi Zeinalizadeh, Seyed Mousa Sadrehosseini, Keyvan Tayebi Meybodi, Ali Heidari Sharifabadi
Chordoid glioma of the third ventricle is a rare and challenging tumor to surgery because of its unique anatomical location and its close juxtaposition to the neurovascular structures and hypothalamus. The authors report a case of chordoid glioma of the third ventricle in a 43-year-old woman, who presented with headache and somnolence. The tumor was approached by endoscopic transnasal technique with a favorable result. Histopathologic examination disclosed a neoplastic tissue composed of eosinophilic epithelioid cells, mucinous, periodic acid Schiff-diastase positive, extracellular matrix, and scattered lymphoplasmacytic infiltrates...
November 2016: Journal of Korean Neurosurgical Society
https://www.readbyqxmd.com/read/27843910/primary-orbital-cystic-pilocytic-astrocytoma
#18
Hardeep Singh Mudhar, Murtuza Nuruddin, Soma Roy
PURPOSE: To describe the clinical, radiological and histopathological features of a highly unusual primary orbital glioma. PROCEDURES: A 6-year-old female presented with right-sided proptosis that revealed a well-defined intraconal mass on CT imaging with intact orbital bony walls. During the removal of the lesion, it dissected away freely from the muscles and was separated from the optic nerve and globe. There was no communication with the brain. RESULTS: Histology showed histological features highly favouring a pilocytic astrocytoma enveloped by meninges...
October 2016: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/27830210/optic-nerve-glioma-with-complete-intraocular-extension
#19
Masoomeh Eghtedari, Seyede Fariba Fattahi, Naser Owji, Mohammad Javad Ashraf, Mohammad Reza Khalili, Bita Geramizadeh
PURPOSE: To present a rare presentation of optic nerve glioma (ONG) with total intraocular extension. METHODS: A 44-year-old man with a history of loss of vision since childhood and recent development of progressive disfiguring proptosis was referred. RESULTS: The vision in the affected eye was no light perception, and a proptosis of about 2-3 mm was present. Computed tomography and Magnetic Resonance Imaging (MRI) of brain/orbit showed a fusiform enlargement of the left optic nerve and total filling of vitreous cavity by a mass with high signal intensity in T2-weighted MRI...
December 2016: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/27815404/predicting-which-nf1-optic-pathway-gliomas-will-require-treatment
#20
EDITORIAL
Robert Listernick
No abstract text is available yet for this article.
December 6, 2016: Neurology
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