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https://www.readbyqxmd.com/read/28817420/optical-coherence-tomography-angiography-for-the-detection-of-secondary-choroidal-neovascularization-in-vitelliform-macular-dystrophy
#1
Martin Stattin, Daniel Ahmed, Carl Glittenberg, Ilse Krebs, Siamak Ansari-Shahrezaei
PURPOSE: Optical coherence tomography angiography (OCTA) is used to assess vascular abnormality in advanced stage vitelliform macular dystrophy (VMD2). METHODS: Multimodal imaging including spectral domain (SD) OCT, autofluorescence (AF), fluorescein (FA) and indocyanine green angiography (ICGA) as well as optical coherence tomography angiography were performed. PATIENTS: Two eyes in one young patient with diagnosed vitelliform macular dystrophy were investigated for progressive visual dysfunction...
August 16, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28817343/suppression-of-choroidal-neovascularization-in-mice-by-subretinal-delivery-of-multigenic-lentiviral-vectors-encoding-anti-angiogenic-micrornas
#2
Anne Louise Askou, Josephine Natalia Esther Benckendorff, Andreas Holmgaard, Tina Storm, Lars Aagaard, Toke Bek, Jacob Giehm Mikkelsen, Thomas Juhl Corydon
Lentivirus-based vectors have been used for the development of potent gene therapies. Here, application of a multigenic lentiviral vector (LV) producing multiple anti-angiogenic microRNAs following subretinal delivery in a laser-induced choroidal neovascularization (CNV) mouse model is presented. This versatile LV, carrying back-to-back RNApolII-driven expression cassettes, enables combined expression of microRNAs targeting vascular endothelial growth factor A (Vegfa) mRNA and fluorescent reporters. In addition, by including a vitelliform macular dystrophy 2 (VMD2) promoter, expression of microRNAs is restricted to the retinal pigment epithelial (RPE) cells...
August 2017: Human Gene Therapy Methods
https://www.readbyqxmd.com/read/28814417/intravitreal-bevacizumab-monotherapy-in-myopic-choroidal-neovascularisation-5-year-outcomes-for-the-pan-american-collaborative-retina-study-group
#3
Jay Chhablani, Remya Mareen Paulose, Andres F Lasave, Lihteh Wu, Cristian Carpentier, Mauricio Maia, Silvio Lujan, Sergio Rojas, Martin Serrano, Maria H Berrocal, J Fernando Arevalo
PURPOSE: To report the long-term anatomical and visual outcomes of intravitreal bevacizumab (IVB) monotherapy in naive choroidal neovascularisation (CNV) caused by myopia. METHODS: Retrospective analysis of naive CNV secondary to myopia that underwent antivascular endothelial growth factor monotherapy was performed. Collected data included demographic details, clinical examination details including visual acuity at presentation and follow-up with imaging and treatment details...
August 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28803936/slurp1-promotes-corneal-angiogenic-privilege-by-suppressing-nuclear-translocation-of-nf%C3%AE%C2%BAb
#4
Sudha Swamynathan, Chelsea L Loughner, Shivalingappa K Swamynathan
Previously, we have reported that the Secreted Ly6/uPAR related protein-1 (SLURP1) serves an important immunomodulatory function in the ocular surface. Here, we examine the involvement of SLURP1 in regulating corneal angiogenic privilege. Slurp1 expression detected by QPCR, immunoblots and immunofluorescent stain, was significantly decreased in mouse corneas subjected to alkali burn-induced corneal neovascularization (CNV). Addition of exogenous SLURP1 (6XHis-tagged, E. coli expressed and partially purified using Ni-ion columns) significantly suppressed the tumor necrosis factor-α (TNF-α)-stimulated human umbilical cord vascular endothelial cell (HUVEC) tube formation...
August 10, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28802053/gene-panel-testing-of-breast-and-ovarian-cancer-patients-identifies-a-recurrent-rad51c-duplication
#5
Liisa M Pelttari, Hermela Shimelis, Heidi Toiminen, Anders Kvist, Therese Törngren, Åke Borg, Carl Blomqvist, Ralf Bützow, Fergus Couch, Kristiina Aittomäki, Heli Nevanlinna
Gene-panel sequencing allows comprehensive analysis of multiple genes simultaneously and is now routinely used in clinical mutation testing of high-risk breast and ovarian cancer patients. However, only BRCA1 and BRCA2 are often analyzed also for large genomic changes. Here, we have analyzed 10 clinically relevant susceptibility genes in 95 breast or ovarian cancer patients with gene-panel sequencing including also CNV analysis for genomic changes. We identified 12 different pathogenic BRCA1, BRCA2, TP53, PTEN, CHEK2, or RAD51C mutations in 18/95 patients (19%)...
August 12, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28800463/combination-of-dexamethasone-and-avastin-%C3%A2-by-supramolecular-hydrogel-attenuates-the-inflammatory-corneal-neovascularization-in-rat-alkali-burn-model
#6
Jinhai Huang, Wenwen Wang, Jing Yu, Xinxin Yu, Qianqian Zheng, Fangli Peng, Zhifen He, Wenguang Zhao, Zhaoliang Zhang, Xingyi Li, Qinmei Wang
Corneal neovascularization (CNV) is one of the leading causes of vision loss and a high-risk factor for transplant rejection. The present study proposed a supramolecular hydrogel comprised of MPEG-PCL micelles and α-cyclodextrin (α-CD) for co-delivery of dexamethasone sodium phosphate (Dexp) and Avastin(®) (Ava), and further evaluated its therapeutic efficacy in rat alkali burn model. A physical mixing of Dexp/Ava, MPEG-PCL micelles, and α-CD aqueous solution leads to a spontaneous formation of the supramolecular hydrogel via a "host-guest" recognition between MPEG and α-CD...
July 25, 2017: Colloids and Surfaces. B, Biointerfaces
https://www.readbyqxmd.com/read/28800018/the-expanding-clinical-spectrum-of-choroidal-excavation-in-macular-dystrophies
#7
Maurizio Battaglia Parodi, Giuseppe Casalino, Pierluigi Iacono, Ugo Introini, Tatevik Adamyan, Francesco Bandello
PURPOSE: To assess the prevalence and the clinical course of focal choroidal excavation (FCE) in patients affected by macular dystrophies. METHODS: Prospective case series. All the patients underwent a complete ophthalmologic examination, including best-corrected visual acuity and spectral domain optical coherence tomography. The presence of choroidal neovascularization (CNV) was assessed on the basis of the leakage detected on fluorescein angiography. RESULTS: A total of 162 eyes from 81 patients with macular dystrophy were included in the study...
August 9, 2017: Retina
https://www.readbyqxmd.com/read/28795510/cngb3-mutation-spectrum-including-copy-number-variations-in-485-achromatopsia-patients
#8
Anja Kathrin Mayer, Caroline Van Cauwenbergh, Christine Rother, Britta Baumann, Peggy Reuter, Elfride De Baere, Bernd Wissinger, Susanne Kohl
Achromatopsia is a rare autosomal recessive cone disorder characterized by color vision defects, photophobia, nystagmus and severely reduced visual acuity. The disease is caused by mutations in genes encoding crucial components of the cone phototransduction cascade (CNGA3, CNGB3, GNAT2, PDE6C, and PDE6H) or in ATF6, involved in the unfolded protein response. CNGB3 encoding the beta subunit of the cyclic nucleotide-gated ion channel in cone photoreceptors is the major achromatopsia gene. Here, we present a comprehensive spectrum of CNGB3 mutations and their prevalence in a cohort of 1,074 independent families clinically diagnosed with achromatopsia...
August 10, 2017: Human Mutation
https://www.readbyqxmd.com/read/28790804/treatment-of-myopic-choroidal-neovascularization-with-intravitreal-ranibizumab-injections-the-role-of-age
#9
Dimitrios Karagiannis, Georgios A Kontadakis, Konstantinos Kaprinis, Athanassios Giarmoukakis, Ilias Georgalas, Efstratios A Parikakis, Miltiadis K Tsilimbaris
PURPOSE: The aim of this study was to explore the role of age as a prognostic factor for the outcome of myopic choroidal neovascularization (CNV) treatment with intravitreal ranibizumab injections. METHODS: A retrospective review of charts of patients treated with intravitreal injections of ranibizumab for the treatment of myopic CNV was done. Patients with other ophthalmic disease were excluded. Patients were followed for at least 2 years. The correlation between age and the change in visual acuity and the number of injections during treatment was investigated...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28789618/genome-wide-copy-number-variation-analysis-identified-deletions-in-sfmbt1-associated-with-fasting-plasma-glucose-in-a-han-chinese-population
#10
Ren-Hua Chung, Yen-Feng Chiu, Yi-Jen Hung, Wen-Jane Lee, Kwan-Dun Wu, Hui-Ling Chen, Ming-Wei Lin, Yii-Der I Chen, Thomas Quertermous, Chao A Hsiung
BACKGROUND: Fasting glucose and fasting insulin are glycemic traits closely related to diabetes, and understanding the role of genetic factors in these traits can help reveal the etiology of type 2 diabetes. Although single nucleotide polymorphisms (SNPs) in several candidate genes have been found to be associated with fasting glucose and fasting insulin, copy number variations (CNVs), which have been reported to be associated with several complex traits, have not been reported for association with these two traits...
August 8, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28777388/choroidal-neovascularization-in-multifocal-choroiditis-after-dabrafenib-and-trametinib
#11
Giorgia C Albertini, Eleonora Corbelli, Maurizio Battaglia Parodi, Francesco Bandello
PURPOSE: To describe a case of bilateral choroidal neovascularization (CNV) in multifocal choroiditis (MFC) associated with dabrafenib and trametinib chemotherapy for metastatic melanoma. CASE: We present a case of a 57-year-old man with MFC who underwent combination therapy with dabrafenib plus trametinib for metastatic melanoma. The patient presented to our ophthalmology department complaining of bilateral vision loss of 2 days' duration. He underwent multimodal imaging showing a MFC reactivation complicated by bilateral CNV...
August 2, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28774736/rep1-copy-number-variation-is-an-important-genetic-cause-of-choroideremia-in-chinese-patients
#12
Qi Zhou, Fengxia Yao, Xiaoxu Han, Hui Li, Lizhu Yang, Ruifang Sui
Choroidermia (CHM) is an X-linked chorioretinal disorder caused by mutations in the Rab Escort Protein 1 (Rep-1) gene. Its diagnosis depends on clinical findings and genetic confirmation; however, mutations in Rep-1 gene are not always detected by standard Sanger sequencing. We therefore conducted multiplex ligation-dependent probe amplification (MLPA) and real-time quantitative PCR (QPCR) in cases of Chinese CHM families in which sequencing all the exons and flanking intronic regions of the CHM gene had not identified a mutation or exons could not be amplified...
July 31, 2017: Experimental Eye Research
https://www.readbyqxmd.com/read/28774260/large-intragenic-deletion-of-cdc73-exons-4-10-in-a-three-generation-hyperparathyroidism-jaw-tumor-hpt-jt-syndrome-family
#13
Vito Guarnieri, Raewyn M Seaberg, Catherine Kelly, M Jean Davidson, Simon Raphael, Andrew Y Shuen, Filomena Baorda, Orazio Palumbo, Alfredo Scillitani, Geoffrey N Hendy, David E C Cole
BACKGROUND: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. METHODS: The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestations of HPT-JT...
August 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28771244/de-novo-and-rare-inherited-copy-number-variations-in-the-hemiplegic-form-of-cerebral-palsy
#14
Mehdi Zarrei, Darcy L Fehlings, Karizma Mawjee, Lauren Switzer, Bhooma Thiruvahindrapuram, Susan Walker, Daniele Merico, Guillermo Casallo, Mohammed Uddin, Jeffrey R MacDonald, Matthew J Gazzellone, Edward J Higginbotham, Craig Campbell, Gabrielle deVeber, Pam Frid, Jan Willem Gorter, Carolyn Hunt, Anne Kawamura, Marie Kim, Anna McCormick, Ronit Mesterman, Dawa Samdup, Christian R Marshall, Dimitri J Stavropoulos, Richard F Wintle, Stephen W Scherer
PurposeHemiplegia is a subtype of cerebral palsy (CP) in which one side of the body is affected. Our earlier study of unselected children with CP demonstrated de novo and clinically relevant rare inherited genomic copy-number variations (CNVs) in 9.6% of participants. Here, we examined the prevalence and types of CNVs specifically in hemiplegic CP.MethodsWe genotyped 97 unrelated probands with hemiplegic CP and their parents. We compared their CNVs to those of 10,851 population controls, in order to identify rare CNVs (<0...
August 3, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28769551/intravitreal-aflibercept-for-choroidal-neovascularization-associated-with-chorioretinitis-a-pilot-study
#15
Andrii R Korol, Oleksandra Zborovska, Taras Kustryn, Oleksandra Dorokhova, Nataliya Pasyechnikova
PURPOSE: The purpose of this study was to evaluate the potential benefits of intravitreal aflibercept injections for the treatment of choroidal neovascularization (CNV) secondary to chorioretinitis. METHODS: In this uncontrolled, prospective cohort study, 15 eyes of 14 consecutive patients affected by CNV associated with ocular toxoplasmosis were treated with intravitreal aflibercept (2 mg) pro re nata and observed over a 12-month follow-up period. The primary outcome was the change in best-corrected visual acuity (BCVA) from baseline to month 12...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28769055/high-coverage-whole-exome-sequencing-identifies-candidate-genes-for-suicide-in-victims-with-major-depressive-disorder
#16
Dóra Tombácz, Zoltán Maróti, Tibor Kalmár, Zsolt Csabai, Zsolt Balázs, Shinichi Takahashi, Miklós Palkovits, Michael Snyder, Zsolt Boldogkői
We carried out whole-exome ultra-high throughput sequencing in brain samples of suicide victims who had suffered from major depressive disorder and control subjects who had died from other causes. This study aimed to reveal the selective accumulation of rare variants in the coding and the UTR sequences within the genes of suicide victims. We also analysed the potential effect of STR and CNV variations, as well as the infection of the brain with neurovirulent viruses in this behavioural disorder. As a result, we have identified several candidate genes, among others three calcium channel genes that may potentially contribute to completed suicide...
August 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765568/novel-copy-number-variation-of-pomgnt1-associated-with-muscle-eye-brain-disease-detected-by-next-generation-sequencing
#17
Xiaona Fu, Haipo Yang, Hui Jiao, Shuo Wang, Aijie Liu, Xiaoqing Li, Jiangxi Xiao, Yanling Yang, Xiru Wu, Hui Xiong
The protein O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 (POMGNT1) gene is one of 18 genes involved in the pathogenesis of α-dystroglycanopathies(α-DGPs) such as muscle-eye-brain disease (MEB). Our study aimed to retrospectively analyze and characterize the clinical and genetic features of three MEB patients with POMGNT1 mutations. One female and two male patients from three unrelated families were diagnosed with MEB, manifesting hypotonia at birth, mental retardation, structural brain defects, and ocular malformations...
August 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28765145/optical-coherence-tomography-angiography-characterisation-of-best-disease-and-associated-choroidal-neovascularisation
#18
Abhilash Guduru, Arushi Gupta, Mudit Tyagi, Subhadra Jalali, Jay Chhablani
AIMS: To characterise the vasculature of the retina in patients with Best vitelliform dystrophy, including those with choroidal neovascularisation (CNV), using optical coherence tomography angiography (OCTA) and correlate with fluorescein angiography (FA). METHODS: This prospective observational study included 19 eyes of 10 patients with Best disease. Using OCTA, all layers of retina were qualitatively characterised for each eye. Patients with CNV also underwent FA, and areas of CNV were measured by OCTA and FA and correlated...
August 1, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28763559/adiponectin-mediates-dietary-omega-3-long-chain-polyunsaturated-fatty-acid-protection-against-choroidal-neovascularization-in-mice
#19
Zhongjie Fu, Raffael Liegl, Zhongxiao Wang, Yan Gong, Chi-Hsiu Liu, Ye Sun, Bertan Cakir, Samuel B Burnim, Steven S Meng, Chatarina Löfqvist, John Paul SanGiovanni, Ann Hellström, Lois E H Smith
Purpose: Neovascular age-related macular degeneration (AMD) is a major cause of legal blindness in the elderly. Diets with omega3-long-chain-polyunsaturated-fatty-acid (ω3-LCPUFA) correlate with a decreased risk of AMD. Dietary ω3-LCPUFA versus ω6-LCPUFA inhibits mouse ocular neovascularization, but the underlying mechanism needs further exploration. The aim of this study was to investigate if adiponectin (APN) mediated ω3-LCPUFA suppression of neovessels in AMD. Methods: The mouse laser-induced choroidal neovascularization (CNV) model was used to mimic some of the inflammatory aspect of AMD...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28763065/genome-wide-association-analysis-identifies-common-variants-influencing-infant-brain-volumes
#20
K Xia, J Zhang, M Ahn, S Jha, J J Crowley, J Szatkiewicz, T Li, F Zou, H Zhu, D Hibar, P Thompson, P F Sullivan, M Styner, J H Gilmore, R C Knickmeyer
Genome-wide association studies (GWAS) of adolescents and adults are transforming our understanding of how genetic variants impact brain structure and psychiatric risk, but cannot address the reality that psychiatric disorders are unfolding developmental processes with origins in fetal life. To investigate how genetic variation impacts prenatal brain development, we conducted a GWAS of global brain tissue volumes in 561 infants. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130) achieved genome-wide significance for gray matter volume (P=4...
August 1, 2017: Translational Psychiatry
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