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https://www.readbyqxmd.com/read/29327717/combined-mutation-and-copy-number-variation-detection-by-targeted-next-generation-sequencing-in-uveal-melanoma
#1
Kyra N Smit, Natasha M van Poppelen, Jolanda Vaarwater, Robert Verdijk, Ronald van Marion, Helen Kalirai, Sarah E Coupland, Sophie Thornton, Neil Farquhar, Hendrikus-Jan Dubbink, Dion Paridaens, Annelies de Klein, Emine Kiliç
Uveal melanoma is a highly aggressive cancer of the eye, in which nearly 50% of the patients die from metastasis. It is the most common type of primary eye cancer in adults. Chromosome and mutation status have been shown to correlate with the disease-free survival. Loss of chromosome 3 and inactivating mutations in BAP1, which is located on chromosome 3, are strongly associated with 'high-risk' tumors that metastasize early. Other genes often involved in uveal melanoma are SF3B1 and EIF1AX, which are found to be mutated in intermediate- and low-risk tumors, respectively...
January 12, 2018: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/29327175/microrna-30c-as-a-novel-diagnostic-biomarker-for-primary-and-secondary-b-cell-lymphoma-of-the-cns
#2
Alexander Baraniskin, Monika Chomiak, Guido Ahle, Thomas Gress, Malte Buchholz, Michael Turewicz, Martin Eisenacher, Michelle Margold, Uwe Schlegel, Wolff Schmiegel, Stephan Hahn, Roland Schroers
Primary lymphomas of the central nervous system (PCNSL) are highly aggressive tumors affecting exclusively the CNS, meninges, and eyes. PCNSL must be separated from secondary spread of systemic lymphoma to the CNS (SCNSL), which may occur at diagnosis or relapse of systemic lymphomas. At present, there are no valid methods to distinguish PCNSL from SCNSL based on tumor biopsy because of similar histological presentation. However, SCNSL and PCNSL are different in terms of prognosis and adequate therapy protocols...
January 11, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29325387/-clinical-effects-of-pediatric-penetrating-keratoplasty-for-congenital-corneal-opacity
#3
S W Li, C Liu, T H Chen, J H Ning, T Zhang, F J Lyu, M Xu
Objective: To report the clinical results of pediatric penetrating keratoplasty (PKP) in patients under 3 years old with congenital corneal opacity. Methods: Retrospective study. Sixteen eyes of 12 patients who were treated with PKP in Aier Eye Hospital Group from June 2009 to December 2016 were enrolled in this study. All the patients were diagnosed as congenital corneal opacities: 8 cases (11 eyes) with Peter's anomaly I, 2 cases (3 eyes) with sclerocornea, and 2 cases (2 eyes) with corneal dermoid tumor combined with iris synechia...
December 11, 2017: [Zhonghua Yan Ke za Zhi] Chinese Journal of Ophthalmology
https://www.readbyqxmd.com/read/29317634/punctuated-evolution-of-canonical-genomic-aberrations-in-uveal-melanoma
#4
Matthew G Field, Michael A Durante, Hima Anbunathan, Louis Z Cai, Christina L Decatur, Anne M Bowcock, Stefan Kurtenbach, J William Harbour
Cancer is thought to arise through the accumulation of genomic aberrations evolving under Darwinian selection. However, it remains unclear when the aberrations associated with metastasis emerge during tumor evolution. Uveal melanoma (UM) is the most common primary eye cancer and frequently leads to metastatic death, which is strongly linked to BAP1 mutations. Accordingly, UM is ideally suited for studying the clonal evolution of metastatic competence. Here we analyze sequencing data from 151 primary UM samples using a customized bioinformatic pipeline, to improve detection of BAP1 mutations and infer the clonal relationships among genomic aberrations...
January 9, 2018: Nature Communications
https://www.readbyqxmd.com/read/29317532/alkals-are-in-vivo-ligands-for-alk-family-receptor-tyrosine-kinases-in-the-neural-crest-and-derived-cells
#5
Andrey Fadeev, Patricia Mendoza-Garcia, Uwe Irion, Jikui Guan, Kathrin Pfeifer, Stephanie Wiessner, Fabrizio Serluca, Ajeet Pratap Singh, Christiane Nüsslein-Volhard, Ruth H Palmer
Mutations in anaplastic lymphoma kinase (ALK) are implicated in somatic and familial neuroblastoma, a pediatric tumor of neural crest-derived tissues. Recently, biochemical analyses have identified secreted small ALKAL proteins (FAM150, AUG) as potential ligands for human ALK and the related leukocyte tyrosine kinase (LTK). In the zebrafish Danio rerio, DrLtk, which is similar to human ALK in sequence and domain structure, controls the development of iridophores, neural crest-derived pigment cells. Hence, the zebrafish system allows studying Alk/Ltk and Alkals involvement in neural crest regulation in vivo...
January 9, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29314142/retinoblastoma-the-visible-cns-tumor-a-review
#6
Helen Dimaras, Timothy W Corson
The pediatric ocular cancer retinoblastoma is the only central nervous system (CNS) tumor readily observed without specialized equipment: it can be seen by, and in, the naked eye. This accessibility enables unique imaging modalities. Here, we review this cancer for a neuroscience audience, highlighting these clinical and research imaging options, including fundus imaging, optical coherence tomography, ultrasound, and magnetic resonance imaging. We also discuss the subtype of retinoblastoma driven by the MYCN oncogene more commonly associated with neuroblastoma, and consider trilateral retinoblastoma, in which an intracranial tumor arises along with ocular tumors in patients with germline RB1 gene mutations...
January 3, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29308745/polyphyllin-i-induces-cell-cycle-arrest-and-cell-apoptosis-in-human-retinoblastoma-y-79-cells-through-targeting-p53
#7
Xue Zhu, Ke Wang, Kai Zhang, Yi Pan, Fanfan Zhou, Ling Zhu
Retinoblastoma is the most common intraocular malignant tumor in childhood. Although external beam radiation and enucleation are effective to control retinoblastoma, eye salvage and vision preservation are still significant challenges. Polyphyllin I (PPI), a natural compound extracted from Paris polyphylla rhizomes, has a wide range of activities against many types of cancers. However, the potential effect of this herbal compound on retinoblastoma has not yet been investigated. In the present study, we evaluated the cytotoxic effect of PPI on human retinoblastoma Y-79 cells as well as its underlying molecular mechanism...
January 7, 2018: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/29300388/colonoscopy-based-colorectal-cancer-modeling-in-mice-with-crispr-cas9-genome-editing-and-organoid-transplantation
#8
Jatin Roper, Tuomas Tammela, Adam Akkad, Mohammad Almeqdadi, Sebastian B Santos, Tyler Jacks, Ömer H Yilmaz
Most genetically engineered mouse models (GEMMs) of colorectal cancer are limited by tumor formation in the small intestine, a high tumor burden that limits metastasis, and the need to generate and cross mutant mice. Cell line or organoid transplantation models generally produce tumors in ectopic locations-such as the subcutaneous space, kidney capsule, or cecal wall-that do not reflect the native stromal environment of the colon mucosa. Here, we describe detailed protocols to rapidly and efficiently induce site-directed tumors in the distal colon of mice that are based on colonoscopy-guided mucosal injection...
February 2018: Nature Protocols
https://www.readbyqxmd.com/read/29298970/-ocular-symptoms-in-von-recklinghausen-disease
#9
REVIEW
Mateusz Nowak, Lidia Nowak, Jacek Nowak, Piotr Chaniecki
Von Recklinghausen disease is a genetic disease with autosomal dominant, belonging to the group phakomatoses. In the clinical picture of the disease are skin lesions, eye, bone, intracranial tumors and other cancers of the extracranial location. Due to the high variability of clinical symptoms often diagnosis is delayed in cases of mild expression. The prognosis depends on the location and extent of the change and only symptomatic treatment have a tendency to change regrowth.
December 22, 2017: Polski Merkuriusz Lekarski: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29296554/serum-components-and-clinical-efficacies-of-autologous-serum-eye-drops-in-dry-eye-patients-with-active-and-inactive-sjogren-syndrome
#10
I-Hsin Ma, Lily Wei Chen, Wen-Hui Tu, Chia-Ju Lu, Chien-Jung Huang, Wei-Li Chen
PURPOSE: Autologous serum eye drops are considered safe and efficient for the treatment of various ocular surface disorders, including dry eye diseases (DED) caused by the primary and secondary Sjogren syndrome (SS). However, the serum components in patients of SS may be different from those of normal patients and can thus lead to unpredictable therapeutic effects. This study divided the SS patients into active and inactive types based on the erythrocyte sedimentation rate and the presence or absence of active rheumatoid arthritis...
October 2017: Taiwan Journal of Ophthalmology
https://www.readbyqxmd.com/read/29290462/-retinal-hemangioblastoma-treatment-strategy-and-long-term-follow-up-in-a-retrospective-cohort
#11
A Lefevre, T Mathis, P Denis, L Kodjikian
INTRODUCTION: Retinal hemangioblastoma (RH) is a benign vascular tumor frequently associated with Von Hippel-Lindau disease (VHL). Tumor growth of RH may lead to deterioration of visual acuity, which can be difficult to treat. Early diagnosis may reduce complication rate and side effects of treatment. The present retrospective study evaluates the long-term follow-up and complications of RH treatment as a function of the therapeutic strategy used. MATERIALS AND METHODS: The study included patients with RH, followed at Croix Rousse university hospital, Lyon between 2010 and 2017...
December 28, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/29286955/invisible-honeycomb-like-cavitary-retinal-astrocytic-hamartoma
#12
Phoebe L Mellen, Kareem Sioufi, Jerry A Shields, Carol L Shields
PURPOSE: To report a patient with clinically invisible retinal astrocytic hamartomas (RAHs) detected on optical coherence tomography (OCT) and studied with OCT angiography (OCTA). METHOD: Case report. RESULTS: An 11-year-old healthy girl was evaluated for reduced visual acuity in the right eye. On examination, best-corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. Fundus examination revealed blunted foveal reflex in the right eye and normal findings in the left eye...
December 28, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/29286080/a-murine-model-of-dry-eye-induced-by-topical-administration-of-erlotinib-eye-drops
#13
Qi-Chen Yang, Jing Bao, Cheng Li, Gang Tan, An-Hua Wu, Lei Ye, Lin-Hong Ye, Qiong Zhou, Yi Shao
In the present study, the effects of erlotinib on mouse tear function and corneal epithelial tissue structure were investigated. Throughout the 3 weeks of treatment, no notable differences were observed in the body, eye or lacrimal gland weights of the control and experimental mice. However, in the experimental group, the tear volume and break‑up times of tear film were significantly lower following treatment with erlotinib compared with the control group. Corneal fluorescein staining in the experimental group revealed patchy staining, and the Lissamine green staining and inflammatory index were significantly higher in the experimental group at 3 weeks than in the control group...
December 29, 2017: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/29285235/eyes-absent-gene-eya1-is-a-pathogenic-driver-and-a-therapeutic-target-for-melanoma
#14
Joshua Jiawei Zhou, Yuanshen Huang, Xue Zhang, Yabin Cheng, Liren Tang, Xiaodong Ma
EYA1 is a DNA repair enzyme that is induced after DNA damage and is upregulated in melanoma. However, its role in pathogenesis and therapeutic targeting of melanoma is unknown. Our objectives are (1) to study the relationship between EYA1 expression levels and melanoma patients' clinical pathologic parameters including survival; (2) to investigate its impact on cultured melanoma cells in vitro; and (3) to evaluate EYA1 inhibitors' potential as a treatment of melanoma. Melanoma tissue microarrays were used to assess EYA1 protein expression in 326 melanoma tissues, and to correlate the expression with patients' clinical pathological parameters...
December 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/29284427/study-design-and-baseline-findings-from-the-progression-of-ocular-findings-proof-natural-history-study-of-dry-eye
#15
Peter J McDonnell, Stephen C Pflugfelder, Michael E Stern, David R Hardten, Taryn Conway, Linda Villanueva, David A Hollander
BACKGROUND: The aim of this research is to initiate a 5-year natural history study of dry eye disease (DED) using objectively assessed and patient-reported outcomes, to explore the hypothesis that DED is a progressive condition that has substantive and measurable impacts not only on the ocular surface, but on quality of life and visual functioning. Our objective for this report is to examine the baseline data. METHODS: A multicenter, prospective, controlled, observational study of Level 2 (mild-to-moderate) DED patients based on International Task Force Delphi Panel severity grading, and controls, documented baseline measures (including tear film biomarkers and quality of life)...
December 28, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/29283124/topical-chemotherapy-for-giant-ocular-surface-squamous-neoplasia-of-the-conjunctiva-and-cornea-is-surgery-necessary
#16
Sonal S Chaugule, Jennifer Park, Paul T Finger
PURPOSE: The purpose of this study is to report on the efficacy and safety of topical chemotherapy alone for giant ocular surface squamous neoplasia (OSSN). METHODS: In this retrospective, interventional series, 10 eyes with giant OSSN underwent exfoliative biopsy to confirm the diagnosis followed by application of interferon alpha 2b (IFN α2b) and/or 5 fluorouracil, 1% (5FU). Reported outcome measures were tumor response, visual acuity, recurrence, systemic metastasis, and treatment complications...
January 2018: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29280938/choroidal-tumor-biopsy-a-review-of-the-current-state-and-a-glance-into-future-techniques
#17
Avni P Finn, Miguel A Materin, Prithvi Mruthyunjaya
PURPOSE: To review the indications for and the methods of obtaining biopsies in eyes with uveal melanoma. In addition, this review provides recommendations for avoiding biopsy-related complications and discusses the future directions of biopsy techniques for uveal melanoma. METHODS: This review is based on a presentation by the authors (PM and MM) at the 2017 Duke Advanced Vitreoretinal Surgery Course and an extensive literature review using PubMed. RESULTS: Transscleral and transvitreal fine-needle aspiration biopsy, and transvitreal vitrectomy-assisted biopsy techniques are described...
December 26, 2017: Retina
https://www.readbyqxmd.com/read/29279551/unilateral-conjunctival-infiltration-of-adult-t-cell-leukemia-lymphoma-case-report-and-literature-review
#18
Joji Shimono, Shigeki Kaino, Kohei Okada, Kazuo Oshimi, Yusuke Ishida, Tatsuro Takahashi, Takuto Miyagishima, Takanori Teshima
Adult T-cell leukemia/lymphoma (ATLL) is a peripheral T-cell lymphoma caused by human T-cell leukemia virus type 1 infection. Although conjunctival lymphoma is commonly reported with B-cell lymphoma, it rarely occurs in cases of ATLL. A 73-year-old Japanese female patient was admitted to our institution with evidence of abnormal lymphocytes, lymphadenopathy, and lung nodular lesions. Acute type ATLL was diagnosed, and therapy following the mLSG15 protocol was initiated. At the end of the second course, new bone lesions were detected...
2017: Journal of Clinical and Experimental Hematopathology: JCEH
https://www.readbyqxmd.com/read/29262390/-a-case-of-an-orbital-angioleiomyoma
#19
Kohei Sato, Yukari Ogawa, Keita Kinoshita, Hiroki Takai, Satoshi Hirai, Manabu Ishihara, Keijiro Hara, Hiroyuki Toi, Shunji Matsubara, Masaaki Uno
A 70-year-old woman presented with a 4-year history of painless conjunctival congestion and proptosis of the right eye. Computed tomography and magnetic resonance imaging revealed a 48-mm lesion in the right medial orbit. As the symptoms progressed, the tumor was resected by performing fronto-orbital craniotomy. Histopathological examination revealed a vascular tumor surrounded by smooth muscle fibers and immunohistochemistry demonstrated tumor positivity for smooth muscle actin and desmin. The tumor was diagnosed as an angioleiomyoma, and no recurrence has been observed as of 5 years postoperatively...
December 2017: No Shinkei Geka. Neurological Surgery
https://www.readbyqxmd.com/read/29261756/rb1-gene-mutations-in-argentine-retinoblastoma-patients-implications-for-genetic-counseling
#20
Diana Parma, Marcela Ferrer, Leonela Luce, Florencia Giliberto, Irene Szijan
Retinoblastoma (RB) is an inherited childhood ocular cancer caused by mutations in the tumor suppressor RB1 gene. Identification of RB1 mutations is essential to assess the risk of developing retinoblastoma in the patients´ relatives. Retinoblastoma is a potentially curable cancer and an early diagnosis is critical for survival and eye preservation. Unilateral retinoblastoma is mostly non-heritable and results from two somatic mutations whereas bilateral retinoblastoma is heritable and results from one germline and one somatic mutation, both have high penetrance, 90%...
2017: PloS One
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