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https://www.readbyqxmd.com/read/28918392/cnvs-affecting-cancer-predisposing-genes-cpgs-detected-as-incidental-findings-in-routine-germline-diagnostic-chromosomal-microarray-cma-testing
#1
Josie Innes, Lisa Reali, Jill Clayton-Smith, Georgina Hall, Derek Hk Lim, George J Burghel, Kim French, Unzela Khan, Daniel Walker, Fiona Lalloo, D Gareth R Evans, Dominic McMullan, Eamonn R Maher, Emma R Woodward
BACKGROUND: Identification of CNVs through chromosomal microarray (CMA) testing is the first-line investigation in individuals with learning difficulties/congenital abnormalities. Although recognised that CMA testing may identify CNVs encompassing a cancer predisposition gene (CPG), limited information is available on the frequency and nature of such results. METHODS: We investigated CNV gains and losses affecting 39 CPGs in 3366 pilot index case individuals undergoing CMA testing, and then studied an extended cohort (n=10 454) for CNV losses at 105 CPGs and CNV gains at 9 proto-oncogenes implicated in inherited cancer susceptibility...
September 16, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28918027/adeno-associated-viral-vector-mediated-mtor-inhibition-by-short-hairpin-rna-suppresses-laser-induced-choroidal-neovascularization
#2
Tae Kwann Park, Si Hyung Lee, Jun Sub Choi, Seung Kwan Nah, Hee Jong Kim, Ha Yan Park, Heuiran Lee, Steven Hyun Seung Lee, Keerang Park
Choroidal neovascularization (CNV) is the defining characteristic feature of the wet subtype of age-related macular degeneration (AMD) and may result in irreversible blindness. Based on anti-vascular endothelial growth factor (anti-VEGF), the current therapeutic approaches to CNV are fraught with difficulties, and mammalian target of rapamycin (mTOR) has recently been proposed as a possible therapeutic target, although few studies have been conducted. Here, we show that a recombinant adeno-associated virus-delivered mTOR-inhibiting short hairpin RNA (rAAV-mTOR shRNA), which blocks the activity of both mTOR complex 1 and 2, represents a promising therapeutic approach for the treatment of CNV...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28917637/diversity-of-copy-number-variation-in-a-worldwide-population-of-sheep
#3
Liu Yang, Lingyang Xu, Yang Zhou, Mei Liu, Lei Wang, James W Kijas, Hongping Zhang, Li Li, George E Liu
Copy number variation (CNV) represents a major source of genomic variation. We investigated the diversity of CNV distribution using SNP array data collected from a comprehensive collection of geographically dispersed sheep breeds. We identified 24,558 putative CNVs, which can be merged into 619 CNV regions, spanning 197Mb of total length and corresponding to ~6.9% of the sheep genome. Our results reveal a population differentiation in CNV between different geographical areas, including Africa, America, Asia, Southwestern Asia, Central Europe, Northern Europe and Southwestern Europe...
September 13, 2017: Genomics
https://www.readbyqxmd.com/read/28916483/recombinant-humanized-anti-vascular-endothelial-growth-factor-monoclonal-antibody-efficiently-suppresses-laser-induced-choroidal-neovascularization-in-rhesus-monkeys
#4
Wan-Wan Ji, Dong-An Yu, Peng Yang, Peng Fang, Yu-Xia Cao, Hu Li, Ning Xie, Shou-Sheng Yan
Neovascular age-related macular degeneration, characterized by abnormal choroidal neovascularization (CNV), is a major cause of blindness worldwide. Anti-vascular endothelial growth factor (VEGF) antibodies have demonstrated significant efficacy in improving visual acuity. TMAB001 is a new recombinant humanized rabbit anti-VEGF monoclonal antibody. It presents high activities in vitro studies. In the binding affinity assay, TMAB001 exhibited a high binding capability to VEGF with an affinity constant of 10(-11)M...
September 12, 2017: European Journal of Pharmaceutical Sciences
https://www.readbyqxmd.com/read/28915599/copy-number-variations-of-circulating-cell-free-dna-in-urothelial-carcinoma-of-the-bladder-patients-treated-with-radical-cystectomy-a-prospective-study
#5
Armin Soave, Felix K-H Chun, Timo Hillebrand, Michael Rink, Lars Weisbach, Bettina Steinbach, Margit Fisch, Klaus Pantel, Heidi Schwarzenbach
The aim of the present study was to establish a rapid profiling method using multiplex ligation-dependent probe amplification (MLPA) and characterize copy number variations (CNV) in circulating, cell-free DNA (cfDNA) in 85 urothelial carcinoma of the bladder (UCB) patients treated with radical cystectomy (RC). MLPA was tested for the use of cfDNA extracted from serum and plasma by various commercial extraction kits. Eighteen probes served as reference to control denaturation, ligation and amplification efficiency...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#6
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28914264/comprehensive-use-of-extended-exome-analysis-improves-diagnostic-yield-in-rare-disease-a-retrospective-survey-in-1-059-cases
#7
Gaber Bergant, Ales Maver, Luca Lovrecic, Goran Čuturilo, Alenka Hodzic, Borut Peterlin
PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059 distinct cases referred for exome sequencing to our institution. In these, we routinely employed extended exome analysis approaches in addition to basic variant analysis, including (i) copy-number variation (CNV) detection, (ii) nonconsensus splice defect detection, (ii) genomic breakpoint detection, (iv) homozygosity mapping, and (v) mitochondrial variant analysis...
September 14, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28912957/characteristics-of-rare-and-private-deletions-identified-in-phenotypically-normal-individuals
#8
Keiko Shimojima, Toshiyuki Yamamoto
Genomic copy number variations (CNVs) identified through chromosomal microarray testing must be validated to confirm whether they are pathogenically and functionally relevant to their respective clinical features. Although larger deletions have a higher probability to be pathogenic, this is not always true. Phenotypically normal individuals showed five CNV deletions larger than 1.5 Mb. The genes related to autosomal dominant trait were absent within these CNV deletions.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28905115/clinical-application-of-snp-array-analysis-in-fetuses-with-ventricular-septal-defects-and-normal-karyotypes
#9
Fang Fu, Qiong Deng, Ting-Ying Lei, Ru Li, Xiang-Yi Jing, Xin Yang, Can Liao
PURPOSE: The present study aims to evaluate the utility of high-resolution single-nucleotide polymorphism (SNP) arrays in fetuses with ventricular septal defects (VSDs) with or without other structural anomalies but with normal karyotypes and to investigate the outcomes of cases of prenatal VSDs via clinical follow-up. METHODS: We analyzed 144 fetuses with VSDs and normal karyotypes using Affymetrix CytoScan HD arrays and the analyses were carried out a year after birth...
September 13, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28902850/copy-number-variation-analysis-in-cytochromes-and-glutathione-s-transferases-may-predict-efficacy-of-tyrosine-kinase-inhibitors-in-chronic-myeloid-leukemia
#10
Alexander V Lavrov, Oksana A Ustaeva, Elmira P Adilgereeva, Svetlana A Smirnikhina, Ekaterina Y Chelysheva, Oleg A Shukhov, Yuriy V Shatokhin, Sergey V Mordanov, Anna G Turkina, Sergey I Kutsev
Chronic myeloid leukemia (CML) is a myeloproliferative disease characterized by the presence of BCR/ABL fusion gene in leukemic cells, which promotes uncontrolled cell proliferation. Up to 20% of CML patients show primary resistance or non-optimal response to tyrosine kinase inhibitor (TKI) therapy. We investigated the association between copy number variation (CNV) in glutathione S-transferases (GST) and cytochromes (CYP) and the response rate to TKI. We enrolled 47 patients with CML: 31 with an optimal response and 16 with failure at 6 months in accordance with European LeukemiaNet 2013 recommendations...
2017: PloS One
https://www.readbyqxmd.com/read/28902095/detection-of-treatment-naive-choroidal-neovascularization-in-age-related-macular-degeneration-by-swept-source-optical-coherence-tomography-angiography
#11
Daniel Ahmed, Martin Stattin, Alexandra Graf, Julia Forster, Carl Glittenberg, Ilse Krebs, Siamak Ansari-Shahrezaei
PURPOSE: To compare the detection rate of choroidal neovascularization (CNV) in treatment-naive neovascular age-related macular degeneration by swept source optical coherence tomography angiography (SS-OCTA, Topcon's DRI Triton) working at 1,050 nm wavelength versus fluorescence angiography. METHODS: Cross-sectional analysis of 156 eyes (107 neovascular age-related macular degeneration and 49 dry AMD) in 98 patients, previously diagnosed by multimodal imaging using fluorescein (FA) and indocyanine green angiography (Heidelberg's Spectralis) in a tertiary retina center, evaluated by SS-OCTA 4...
September 4, 2017: Retina
https://www.readbyqxmd.com/read/28900023/gene-expression-in-leishmania-is-regulated-predominantly-by-gene-dosage
#12
Stefano A Iantorno, Caroline Durrant, Asis Khan, Mandy J Sanders, Stephen M Beverley, Wesley C Warren, Matthew Berriman, David L Sacks, James A Cotton, Michael E Grigg
Leishmania tropica, a unicellular eukaryotic parasite present in North and East Africa, the Middle East, and the Indian subcontinent, has been linked to large outbreaks of cutaneous leishmaniasis in displaced populations in Iraq, Jordan, and Syria. Here, we report the genome sequence of this pathogen and 7,863 identified protein-coding genes, and we show that the majority of clinical isolates possess high levels of allelic diversity, genetic admixture, heterozygosity, and extensive aneuploidy. By utilizing paired genome-wide high-throughput DNA sequencing (DNA-seq) with RNA-seq, we found that gene dosage, at the level of individual genes or chromosomal "somy" (a general term covering disomy, trisomy, tetrasomy, etc...
September 12, 2017: MBio
https://www.readbyqxmd.com/read/28898873/two-year-outcomes-of-a-treat-and-extend-regimen-using-intravitreal-aflibercept-injections-for-typical-age-related-macular-degeneration
#13
Arisa Ito, Hidetaka Matsumoto, Masahiro Morimoto, Kensuke Mimura, Hideo Akiyama
PURPOSE: The aim of this study was to evaluate the efficacy of a treat-and-extend (TAE) regimen using intravitreal injection of aflibercept (IVA) for typical age-related macular degeneration (tAMD). METHODS: We retrospectively studied 61 treatment-naïve eyes with tAMD. Best-corrected visual acuity (BCVA), central macular thickness (CMT), central choroidal thickness (CCT), number of injections, and complications during 2 years were evaluated. RESULTS: BCVA significantly improved by on average 0...
September 13, 2017: Ophthalmologica. Journal International D'ophtalmologie
https://www.readbyqxmd.com/read/28895632/-oct-angiography-in-exudative-amd-with-detachment-of-vascularised-retinal-pigment-epithelium
#14
Frederic Gunnemann, Kai Rothaus, Marie-Louise Farecki, Henrik Faatz, Benedikt Book, Albrecht Lommatzsch, Daniel Pauleikoff
Background The aim of the following extended case study was to analyse whether choroidal neovascularisation (CNV) in vascularised epithelial detachments (PED) in OCT angiography (OCT-A) can be better visualised in OCT-A than in the established angiographic methods during the course of anti-VEGF therapy and if possible used to quantify the CNV size and flow area. These findings were compared with other SD-OCT characteristics of the lesion (PED height, retinal thickness). Patients and Methods 8 patients with PED and associated CNV were diagnosed with multimodal imaging and additionally OCT angiography was performed...
September 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28895630/-changes-in-oct-angiography-of-type-2-cnv-in-neovascular-amd-during-anti-vegf-treatment
#15
Henrik Faatz, Kai Rothaus, Frederic Gunnemann, Matthias Gutfleisch, Britta Heimes-Bussmann, Albrecht Lommatzsch, Daniel Pauleikoff, Marie-Louise Farecki
Purpose OCT-A is a new method to visualise the 2D and 3D structures of neovascular complexes in exudative AMD. The aim of the present study was to characterise type 2 CNV in different 2D segmentations and in 3D imaging and to investigate changes during anti-VEGF treatment. Methods 12 patients with type 2 CNV in FA and SD-OCT were selected. OCT-A (Avanti, Optovue) was obtained initially and after the first three injections and thereafter, if "new activity" (increase in sub- or intraretinal fluid) occurred...
September 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/28893457/-treatment-of-choroidal-noevascularization-secondary-to-angioid-streaks-with-bevacizumab-and-response-experience-of-the-ophthalmology-department-of-hassan-ii-university-hospital
#16
M El Bahloul, F Chraïbi, S Aounzou, A Salam Diarra, M Abdellaoui, I Benatiya, H Tahri
PURPOSE: To evaluate the efficacy of intravitreal bevacizumab in the treatment of choroidal neovascularization (CNV) secondary to angioid streaks. METHODS: We conducted a prospective study in the ophthalmology department of Hassan II university hospital in Fez, including 12 eyes of 7 patients with CNV associated with angioid streaks. We injected 8 eyes with bevacizumab 1.25mg; best corrected visual acuity (BCVA), fundus examination, fluorescein angiography and optical coherence tomography were performed and analyzed for all patients before and after treatment...
September 8, 2017: Journal Français D'ophtalmologie
https://www.readbyqxmd.com/read/28892569/serine-racemase-deficiency-attenuates-choroidal-neovascularization-and-reduces-nitric-oxide-and-vegf-levels-by-retinal-pigment-epithelial-cells
#17
Haiyan Jiang, Mengjuan Wu, Yimei Liu, Liping Song, Shifeng Li, Xianwei Wang, Yun-Feng Zhang, Junxu Fang, Shengzhou Wu
Choroidal neovascularization (CNV) is a leading cause of blindness in age-related macular degeneration. Production of VEGF and macrophage recruitment by retinal pigment epithelial cells (RPE) significantly contributes to the process of CNV in an experimental CNV model. Serine racemase (SR) is expressed in retinal neurons and glial cells, and its product, D-serine, is an endogenous co-agonist of N-methyl-D-aspartate receptor (NMDAR). Activation of the receptor results in production of nitric oxide ((.) NO), a molecule that promotes retinal and choroidal neovascularization...
September 11, 2017: Journal of Neurochemistry
https://www.readbyqxmd.com/read/28891028/the-use-of-optical-coherence-tomography-angiography-in-pachychoroid-spectrum-diseases-a-concurrent-comparison-with-dye-angiography
#18
Sibel Demirel, Özge Yanık, Hilal Nalcı, Figen Batıoğlu, Emin Özmert
PURPOSE: The study objective was to compare dye angiography and optical coherence tomography angiography (OCTA) in detecting choroidal neovascuarization (CNV) in patients presenting with pachychoroid features and flat irregular pigment epithelial detachment (PED). METHODS: Nineteen eyes of 17 patients, presenting with flat PED and pachychoroid features, and without age-related macular degeneration or any other degenerative change, were analyzed. Fuorescein angiography (FA)/Indocyanine green angiography (ICGA) and OCTA were performed during the same visit...
September 11, 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28887057/ppar%C3%AE-agonists-potential-treatments-for-exudative-age-related-macular-degeneration
#19
REVIEW
Alexandre Vallée, Yves Lecarpentier, Rémy Guillevin, Jean-Noël Vallée
Choroidal neovascularization (CNV) characterizes the progression of exudative age-related macular degeneration (AMD) with the deterioration in the central vision. Vascular inflammation, and overproduction of inflammatory cytokines, growth factors and aberrant endothelial cell migration, initiate defective blood vessel proliferation in exudative AMD. CNV formation is initiated by the interplay between inflammation, the hallmark of exudative AMD, and the activation of WNT/β-catenin pathway. Upregulation of WNT/β-catenin pathway involves activation of PI3K/Akt pathway and then the Warburg effect to produce lactate...
September 5, 2017: Life Sciences
https://www.readbyqxmd.com/read/28884436/effects-of-vegf-levels-on-anti-vegf-therapy-for-patients-with-idiopathic-choroidal-neovascularization
#20
Xiaojuan Fan, Ning Gao, Jingming Li, Jianqin Lei, Qianyan Kang
The objective of this study is to investigate the levels of vascular endothelial growth factor (VEGF) and other cytokines in aqueous humor of patients with idiopathic choroidal neovascularization (CNV) and their effects together with central retinal thickness (CRT) on the response to intravitreal injection of anti-VEGF antibody ranibizumab. This clinical study recruited 32 eyes from 32 patients with CNV under or besides fovea. VEGF, interleukin (IL)-6, IL-8, and monocyte chemoattractant protein (MCP)-1 levels were detected in aqueous humor (0...
September 7, 2017: Molecular and Cellular Biochemistry
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