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Rohan Chawla, Kanhaiya Mittal, Rajpal Vohra
The authors report the use of optical coherence tomography angiography (OCTA) (DRI OCT Triton; Topcon, Tokyo, Japan) to localize, characterize, and confirm the presence of a choroidal neovascular membrane in a patient of focal choroidal excavation (FCE) with recent-onset metamorphopsia and visual blurring. En face OCTA images just above the level of the retinal pigment epithelium-Bruch's membrane complex typically showed the presence of a glomerulus-like neovascular network with an adjacent dark area suggestive of a Type 2 choroidal neovascularization (CNV)...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Ricardo Noguera Louzada, Daniela Ferrara, Eduardo Amorim Novais, Eric Moult, Emily Cole, Mark Lane, James Fujimoto, Jay S Duker, Caroline R Baumal
To describe the appearance of a scleral-derived feeder vessel in a highly myopic eye with secondary choroidal neovascularization (CNV) as visualized on both en face high-speed swept-source (SS) optical coherence tomography angiography (OCTA) prototype, and a commercially available spectral-domain (SD) OCTA, with the corresponding en face and cross-sectional structural OCT images. In this case report, a 60-year-old white male presented with high myopia and secondary CNV in the right eye, previously treated with anti-vascular endothelial growth factor, and was imaged on both SD-OCT and SS-OCT...
October 1, 2016: Ophthalmic Surgery, Lasers & Imaging Retina
Chia Lin Chang, Chia Yu Chang, Da Xian Lee, Po Jen Cheng
Pre-eclampsia is a pregnancy-specific hypertensive disorder that affects 2-8 % of pregnancies. This disorder can lead to seizure, multi-organ failure and maternal death. The best approach to prevent pre-eclampsia-associated adverse outcomes is to be able to prevent pre-eclampsia as early as possible. Unfortunately, current diagnostic methods are ineffective at predicting the risk of pre-eclampsia during early pregnancy. In humans, low levels of a group of placenta-derived Pregnancy Specific Glycoproteins (PSGs) have been associated with intrauterine growth retardation and pre-eclampsia and there is a significant enrichment of cases with deletions in the PSG gene locus in pre-eclampsia patients...
2016: Advances in Experimental Medicine and Biology
Corinne G Wong, Mehran Taban, Kathryn Osann, Fred N Ross-Cisneros, T C Bruice, Grit Zahn, Timothy You
PURPOSE: Intravitreal vascular endothelial growth factor (VEGF) and basic fibroblast growth factor (bFGF) produced florid retinal neovascularization and hemorrhage in the rabbit. This study seeks to determine whether sustained subchoroidal release of both VEGF and bFGF can induce robust choroidal neovascularization (CNV) in the rabbit. METHODS: Subchoroidal implantation through the sclera of polymeric pellets containing both 15 μg VEGF and 15 μg bFGF was performed on adult pigmented male Dutch belted rabbits (N = 6) and NZW albinos (N = 8)...
October 17, 2016: Current Eye Research
Farah R Zahir, Tracy Tucker, Sonia Mayo, Carolyn J Brown, Emilia L Lim, Jonathan Taylor, Marco A Marra, Fadi F Hamdan, Jacques L Michaud, Jan M Friedman
The disruption of genes involved in epigenetic regulation is well known to cause Intellectual Disability (ID). We reported a custom microarray study that interrogated among others, the epigenetic regulatory gene-class, at single exon resolution. Here we elaborate on identified intragenic CNVs involving epigenetic regulatory genes; specifically discussing those in three genes previously unreported in ID etiology-ARID2, KDM3A, and ARID4B. The changes in ARID2 and KDM3A are likely pathogenic while the ARID4B variant is uncertain...
November 2016: American Journal of Medical Genetics. Part A
J Maaß, D Sandner, E Matthé
BACKGROUND: Retinal angiomatous proliferations (RAP) are a subgroup of exsudative or "wet" age-related macular degeneration (wAMD) with devastating reduction of visual acuity in later stages. Intravitreal ranibizumab provides good therapy, but is considered to be less effective than in other choroidal neovascularizations (CNV). OBJECTIVE: We investigated the efficacy of ranibizumab in late-stage III RAP with retinochoroidal anastomosis compared to the outcome of other CNV lesions...
October 14, 2016: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
Jörg T Regula, Peter Lundh von Leithner, Richard Foxton, Veluchamy A Barathi, Chui Ming Gemmy Cheung, Sai Bo Bo Tun, Yeo Sia Wey, Daiju Iwata, Miroslav Dostalek, Jörg Moelleken, Kay G Stubenrauch, Everson Nogoceke, Gabriella Widmer, Pamela Strassburger, Michael J Koss, Christian Klein, David T Shima, Guido Hartmann
Anti-angiogenic therapies using biological molecules that neutralize vascular endothelial growth factor-A (VEGF-A) have revolutionized treatment of retinal vascular diseases including age-related macular degeneration (AMD). This study reports preclinical assessment of a strategy to enhance anti-VEGF-A monotherapy efficacy by targeting both VEGF-A and angiopoietin-2 (ANG-2), a factor strongly upregulated in vitreous fluids of patients with retinal vascular disease and exerting some of its activities in concert with VEGF-A...
October 14, 2016: EMBO Molecular Medicine
Katja Hatz, Ulrike Schneider, Bernhard Henrich, Beatrice Braun, Stefan Sacu, Christian Prünte
PURPOSE: To evaluate retreatment indications/morphologic responses to ranibizumab monotherapy and combination with verteporfin photodynamic therapy (PDT). METHODS: A total of 40 patients received 3 monthly intravitreal ranibizumab 0.3 mg injections combined with either PDT or sham PDT at baseline (1:1) followed by as-needed ranibizumab based on predetermined vision/anatomical criteria. RESULTS: Retreatment criteria were visual acuity (VA) loss (59%/58%), central retinal thickness (CRT) increase (27%/26%), or both (14%/16%)...
October 13, 2016: European Journal of Ophthalmology
Kinga M Bujakowska, Rosario Fernandez-Godino, Emily Place, Mark Consugar, Daniel Navarro-Gomez, Joseph White, Emma C Bedoukian, Xiaosong Zhu, Hongbo M Xie, Xiaowu Gai, Bart P Leroy, Eric A Pierce
PURPOSE: Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This can be partially attributed to elusive mutations in the known IRD genes, which are not easily identified by the targeted next-generation sequencing (NGS) or Sanger sequencing approaches. We hypothesized that copy-number variations (CNVs) are a major contributor to the elusive genetic causality of IRDs. METHODS: Twenty-eight cases previously unsolved with a targeted NGS were investigated with whole-genome single-nucleotide polymorphism (SNP) and comparative genomic hybridization (CGH) arrays...
October 13, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Ni Ai, Haoyang Cai, Caius Solovan, Michael Baudis
BACKGROUND: DNA copy number profiles from microarray and sequencing experiments sometimes contain wave artefacts which may be introduced during sample preparation and cannot be removed completely by existing preprocessing methods. Besides, large derivative log ratio spread (DLRS) of the probes correlating with poor DNA quality is sometimes observed in genome screening experiments and may lead to unreliable copy number profiles. Depending on the extent of these artefacts and the resulting misidentification of copy number alterations/variations (CNA/CNV), it may be desirable to exclude such samples from analyses or to adapt the downstream data analysis strategy accordingly...
October 12, 2016: BMC Genomics
Barbara Terelak-Borys, Katarzyna Zagajewska, Irmina Jankowska-Lech, Piotr Tesla, Iwona Grabska-Liberek
PURPOSE: The purpose of this study was to describe a combination treatment for choroidal neovascular (CNV) membrane, secondary to punctate inner choroidopathy (PIC). PATIENT AND METHODS: A 44-year-old female patient was diagnosed with PIC complicated by the development of recurrent juxtafoveal neovascular membrane. The treatment included a sequence of monotherapy regimens: systemic steroid therapy, photodynamic therapy, and intravitreal injections of vascular endothelial growth factor (VEGF) inhibitor (anti-VEGF)...
2016: Therapeutics and Clinical Risk Management
Hong Chang, Lingyi Li, Tao Peng, Ming Li, Lei Gao, Xiao Xiao
Recent studies suggest that copy number variations (CNVs) are also involved in the genetic risk of schizophrenia. Using a Cochran-Mantel-Haenszel (CMH) adjusted meta-analysis in 18,497 schizophrenia patients and 25,522 healthy controls from 14 independent samples, we conducted replication analyses of four chromosomal deletions at 1q21.1, 15q11.2, 15q13.3, and 22q11.2 Loci for their associations with schizophrenia. Only CNVs larger than 100 kb that had >50% reciprocal overlap with the canonical deletion chromosomal regions were considered...
October 11, 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
Daisuke Ozone, Takeshi Mizutani, Miho Nozaki, Masaharu Ohbayashi, Norio Hasegawa, Aki Kato, Tsutomu Yasukawa, Yuichiro Ogura
Purpose: We investigate the antiangiogenic efficacy of tissue plasminogen activator (tPA) on experimental laser-induced choroidal neovascularization (CNV) in mice. Methods: After CNV was induced by laser photocoagulation in 92 C57BL/6J wild-type mice, tPA (4 or 40 international units [IU]/μl) or PBS was injected intravitreally immediately after laser injury. Fluorescein angiography was performed on day 7 to grade CNV leakage. The CNV volume was measured by confocal microscopy in eyes enucleated 7 days after laser injury...
October 1, 2016: Investigative Ophthalmology & Visual Science
Rajeev K Mehlotra, Noemi B Hall, Barne Willie, Catherine M Stein, Aaron Weinberg, Peter A Zimmerman, Lance T Vernon
Polymorphisms in toll-like receptor (TLR) and β-defensin (DEFB) genes have been recognized as potential genetic factors that can influence susceptibility to and severity of periodontal diseases (PD). However, data regarding associations between these polymorphisms and PD are still scarce in North American populations, and are not available in HIV+ North American populations. In this exploratory study, we analyzed samples from HIV+ adults (n = 115), who received primary HIV care at 3 local outpatient HIV clinics and were monitored for PD status...
2016: PloS One
Shira Toledano, Huayi Lu, Agustina Palacio, Boaz Kigel, Ofra Kessler, Gilad Allon, Yoreh Barak, Gera Neufeld, Shlomit Schaal
Abnormal subretinal choroidal neovascularization (CNV) is a major cause of blindness in exudative age-related macular degeneration (AMD). Current anti-angiogenic treatments by VEGF sequestering agents have been successful, but a significant proportion of patients do not respond well to these treatments, and the response of others diminishes over time, suggesting that additional anti-angiogenic agents that function by separate mechanisms may be of use to such patients. We have previously found that a point mutated form of semaphorin-3E resistant to cleavage by furin like pro-protein convertases (UNCL-Sema3E) displays potent anti-angiogenic properties...
October 7, 2016: Experimental Eye Research
Cynthia Vierra-Green, David Roe, Jyothi Jayaraman, John Trowsdale, James Traherne, Rui Kuang, Stephen Spellman, Martin Maiers
The killer cell immunoglobulin-like receptors (KIR) mediate human natural killer (NK) cell cytotoxicity via activating or inhibiting signals. Although informative and functional haplotype patterns have been reported, most genotyping has been performed at resolutions that are structurally ambiguous. In order to leverage structural information given low-resolution genotypes, we performed experiments to quantify the effects of population variations, reference haplotypes, and genotyping resolutions on population-level haplotype frequency estimations as well as predictions of individual haplotypes...
2016: PloS One
John Christian Givhan Spainhour, Peng Qiu
BACKGROUND: With the advent of large scale biological data collection for various diseases, data analysis pipelines and workflows need to be established to build frameworks for integrative analysis. Here the authors present a pipeline for identifying disease specific gene-drug interactions using CNV (Copy Number Variation) and clinical data from the TCGA (The Cancer Genome Atlas) project. Two cancer types were selected for analysis, LGG (Brain lower grade glioma) and GBM (Glioblastoma multiforme), due to the possible progression from LGG to GBM in some cases...
October 6, 2016: BMC Bioinformatics
Ferdouse Begum, Ingo Ruczinski, John E Hokanson, Sharon M Lutz, Margaret M Parker, Michael H Cho, Jacqueline B Hetmanski, Robert B Scharpf, James D Crapo, Edwin K Silverman, Terri H Beaty
Many well-powered genome-wide association studies have identified genetic determinants of self-reported smoking behaviors and measures of nicotine dependence, but most have not considered the role of structural variants, such as copy number variation (CNVs), influencing these phenotypes. Here, we included 2,889 African American and 6,187 non-Hispanic White subjects from the COPDGene cohort ( to carefully investigate the role of polymorphic CNVs across the genome on various measures of smoking behavior...
2016: PloS One
Marco Augustin, Stanislava Fialová, Tanja Himmel, Martin Glösmann, Theresia Lengheimer, Danielle J Harper, Roberto Plasenzotti, Michael Pircher, Christoph K Hitzenberger, Bernhard Baumann
We present a multi-functional optical coherence tomography (OCT) imaging approach to study retinal changes in the very-low-density-lipoprotein-receptor (VLDLR) knockout mouse model with a threefold contrast. In the retinas of VLDLR knockout mice spontaneous retinal-chorodoidal neovascularizations form, having an appearance similar to choroidal and retinal neovascularizations (CNV and RNV) in neovascular age-related macular degeneration (AMD) or retinal angiomatous proliferation (RAP). For this longitudinal study, the mice were imaged every 4 to 6 weeks starting with an age of 4 weeks and following up to the age of 11 months...
2016: PloS One
Boas Pucker, Daniela Holtgräwe, Thomas Rosleff Sörensen, Ralf Stracke, Prisca Viehöver, Bernd Weisshaar
Arabidopsis thaliana is the most important model organism for fundamental plant biology. The genome diversity of different accessions of this species has been intensively studied, for example in the 1001 genome project which led to the identification of many small nucleotide polymorphisms (SNPs) and small insertions and deletions (InDels). In addition, presence/absence variation (PAV), copy number variation (CNV) and mobile genetic elements contribute to genomic differences between A. thaliana accessions. To address larger genome rearrangements between the A...
2016: PloS One
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