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https://www.readbyqxmd.com/read/28886202/fuchs-endothelial-corneal-dystrophy-and-rna-foci-in-patients-with-myotonic-dystrophy
#1
V Vinod Mootha, Brock Hansen, Ziye Rong, Pradeep P Mammen, Zhengyang Zhou, Chao Xing, Xin Gong
Purpose: The most common cause of Fuchs' endothelial corneal dystrophy (FECD) is an intronic CTG repeat expansion in TCF4. Expanded CUG repeat RNA colocalize with splicing factor, muscleblind-like 1 (MBNL1), in nuclear foci in endothelium as a molecular hallmark. Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK. In this study, we examine for RNA-MBNL1 foci in endothelial cells of FECD subjects with DM1, test the hypothesis that DM1 patients are at risk for FECD, and determine prevalence of TCF4 and DMPK expansions in a FECD cohort...
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28832669/tgc-repeat-expansion-in-the-tcf4-gene-increases-the-risk-of-fuchs-endothelial-corneal-dystrophy-in-australian-cases
#2
Abraham Kuot, Alex W Hewitt, Grant R Snibson, Emmanuelle Souzeau, Richard Mills, Jamie E Craig, Kathryn P Burdon, Shiwani Sharma
Fuchs' endothelial corneal dystrophy (FECD) is a progressive, vision impairing disease. Common single nucleotide polymorphisms (SNPs) and a trinucleotide repeat polymorphism, thymine-guanine-cytosine (TGC), in the TCF4 gene have been associated with the risk of FECD in some populations. We previously reported association of SNPs in TCF4 with FECD risk in the Australian population. The aim of this study was to determine whether TGC repeat polymorphism in TCF4 is associated with FECD in the Australian population...
2017: PloS One
https://www.readbyqxmd.com/read/28754918/activation-of-tgf-%C3%AE-signaling-induces-cell-death-via-the-unfolded-protein-response-in-fuchs-endothelial-corneal-dystrophy
#3
Naoki Okumura, Keisuke Hashimoto, Miu Kitahara, Hirokazu Okuda, Emi Ueda, Kyoko Watanabe, Makiko Nakahara, Takahiko Sato, Shigeru Kinoshita, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Noriko Koizumi
Fuchs endothelial corneal dystrophy (FECD) is a slowly progressive bilateral disease of corneal endothelium in which accumulation of extracellular matrix (ECM) and loss of corneal endothelial cells (CECs) are phenotypic features. The corneal endothelium maintains corneal transparency by regulating water hydration; consequently, corneal endothelial dysfunction causes serious vision loss. The only therapy for corneal haziness due to corneal endothelial diseases, including FECD, is corneal transplantation using donor corneas, and no pharmaceutical treatment is available...
July 28, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28751984/corneal-backscatters-as-an-objective-index-for-assessing-fuchs-endothelial-corneal-dystrophy-a-pilot-study
#4
Hsueh-Yen Chu, Ching-Hsi Hsiao, Phil Yeong-Fong Chen, David Hui-Kang Ma, Chee-Jen Chang, Hsin-Yuan Tan
PURPOSE: To provide an objective, quantitative approach for monitoring Fuchs' endothelial corneal dystrophy (FECD), with Scheimpflug imaging. DESIGN: This is a retrospective case-control pilot study. METHODS: The study group consisted of 53 eyes in 27 patients diagnosed with FECD, with normal subjects paired as control. Main outcome measures were corneal thickness, morphological patterns on densitograms, and indices of corneal density including the average area density (mean AD) and the average ratio of Descemet's membrane density versus area density (DM/AD) in Pentacam Scheimpflug images...
2017: Journal of Ophthalmology
https://www.readbyqxmd.com/read/28751712/activation-of-mitophagy-leads-to-decline-in-mfn2-and-loss-of-mitochondrial-mass-in-fuchs-endothelial-corneal-dystrophy
#5
Anne-Sophie Benischke, Shivakumar Vasanth, Takashi Miyai, Kishore Reddy Katikireddy, Tomas White, Yuming Chen, Adna Halilovic, Marianne Price, Francis Price, Paloma B Liton, Ula V Jurkunas
Human corneal endothelial cells (HCEnCs) are terminally differentiated cells that have limited regenerative potential. The large numbers of mitochondria in HCEnCs are critical for pump and barrier function required for corneal hydration and transparency. Fuchs Endothelial Corneal Dystrophy (FECD) is a highly prevalent late-onset oxidative stress disorder characterized by progressive loss of HCEnCs. We previously reported increased mitochondrial fragmentation and reduced ATP and mtDNA copy number in FECD. Herein, carbonyl cyanide m-chlorophenyl hydrazone (CCCP)-induced mitochondrial depolarization decreased mitochondrial mass and Mfn2 levels, which were rescued with mitophagy blocker, bafilomycin, in FECD...
July 27, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28749896/elimination-of-anterior-corneal-steepening-with-descemet-membrane-endothelial-keratoplasty-in-a-patient-with-fuchs-dystrophy-and-keratoconus-implications-for-iol-calculation
#6
Reena Gupta, Ruta Kinderyte, Deborah S Jacobs, Ula V Jurkunas
PURPOSE: To report a case of coexistent Fuchs endothelial corneal dystrophy (FECD) and keratoconus (KCN) in which there was normalization of corneal topography after Descemet membrane endothelial keratoplasty (DMEK). METHODS: Retrospective medical record review. RESULTS: Preoperative findings revealed a best-corrected visual acuity of 20/40 with -1.00 - 2.50 × 147, topographic maximum keratometry of 50.8 D with inferior steeping, and confluent guttae in the left eye...
October 2017: Cornea
https://www.readbyqxmd.com/read/28731879/peripheral-endothelial-cell-count-is-a-predictor-of-disease-severity-in-advanced-fuchs-endothelial-corneal-dystrophy
#7
Zeba A Syed, Jennifer A Tran, Ula V Jurkunas
PURPOSE: In advanced Fuchs endothelial corneal dystrophy (FECD), central endothelial changes do not correlate with disease severity. The peripheral endothelial cell count (ECC) has not been studied as a marker of FECD severity. The goal of this study was to determine the relationship between the peripheral ECC and known clinical markers of FECD in advanced cases. METHODS: Patients with FECD examined between January 1, 2013, and September 1, 2016, by 1 cornea specialist were identified...
October 2017: Cornea
https://www.readbyqxmd.com/read/28727885/sustained-activation-of-the-unfolded-protein-response-induces-cell-death-in-fuchs-endothelial-corneal-dystrophy
#8
Naoki Okumura, Miu Kitahara, Hirokazu Okuda, Keisuke Hashimoto, Emi Ueda, Makiko Nakahara, Shigeru Kinoshita, Robert D Young, Andrew J Quantock, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Noriko Koizumi
Purpose: The unfolded protein response (UPR) is believed to play a role in the pathogenesis of Fuchs' endothelial corneal dystrophy (FECD). The purpose of this study was to investigate whether unfolded proteins accumulate in the corneal endothelium in FECD and if they are involved in triggering cell death. Methods: Descemet's membranes with corneal endothelial cells (CECs) were obtained during keratoplasty, and expression of aggresomes, type 1 collagen, fibronectin, and agrin was evaluated...
July 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28726551/extracellular-matrix-and-integrin-expression-profiles-in-fuchs-endothelial-corneal-dystrophy-cells-and-tissue-model
#9
Benjamin Goyer, Mathieu Thériault, Sébastien P Gendron, Isabelle Brunette, Patrick J Rochette, Stéphanie Proulx
Primary corneal endothelial cell cultures and 3D engineered tissue models were used to study the aberrant deposition of extracellular matrix (ECM) in a vision impairing pathology known as Fuchs endothelial corneal dystrophy (FECD). Corneal endothelial cells (CEC) were isolated from excised Descemet membranes of patients with end-stage FECD. CEC isolated from healthy corneas served as controls. Microarray gene profiling was performed on post-confluent cultures of healthy and FECD cells. Protein expression analyses were conducted on tissue models that were engineered by seeding an endothelium on previously devitalized human stromal carriers...
July 20, 2017: Tissue Engineering. Part A
https://www.readbyqxmd.com/read/28642546/slc4a11-depletion-impairs-nrf2-mediated-antioxidant-signaling-and-increases-reactive-oxygen-species-in-human-corneal-endothelial-cells-during-oxidative-stress
#10
Sanjukta Guha, Sunita Chaurasia, Charanya Ramachandran, Sanhita Roy
Corneal endothelial dystrophy is a progressive disease with gradual loss of vision and characterized by degeneration and dysfunction of corneal endothelial cells. Mutations in SLC4A11, a Na(+) dependent OH(-) transporter, cause congenital hereditary endothelial dystrophy (CHED) and Fuchs' endothelial corneal dystrophy (FECD), the two most common forms of endothelial degeneration. Along with genetic factors, oxidative stress plays a role in pathogenesis of several corneal diseases. In this study we looked into the role of SLC4A11 in antioxidant stress response in human corneal endothelial cells (HCEnC)...
June 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28630381/antibody-response-to-human-extracellular-her2-subdomain-proteins-in-mice
#11
Fateme Sadri-Ardalani, Moslem Ahmadi, Azam Hemmati, Shaghayegh Emami, Samira Farid, Mohammad Mehdi Amiri, Mahmood Jeddi-Tehrani, Mahdi Shabani, Fazel Shokri
BACKGROUND: In addition to passive immunotherapy using anti-HER2 monoclonal antibodies, active immunotherapy via HER2 targeting is an interesting approach to inducing specific anti-tumor immune responses. We have recently reported the immunogenicity of HER2 subdomains following DNA immunization and HER2 protein boosting. In the present study, we evaluated the immunogenicity of different HER2 extracellular subdomains for the induction of anti-HER2 antibody response in BALB/c mice. OBJECTIVE: To investigate and characterize antibody responses to human recombinant proteins of HER2 extracellular subdomains in immunized mice...
June 2017: Iranian Journal of Immunology: IJI
https://www.readbyqxmd.com/read/28608272/ctg18-1-repeat-expansion-may-reduce-tcf4-gene-expression-in-corneal-endothelial-cells-of-german-patients-with-fuchs-dystrophy
#12
Sabine Foja, Mirjam Luther, Katrin Hoffmann, Andreas Rupprecht, Claudia Gruenauer-Kloevekorn
PURPOSE: It was the aim of this investigation to elucidate the functional effects of CTG18.1 trinucleotide repeat expansion and the polymorphism rs613872 in the transcription factor 4 (TCF4) in corneas of patients affected by Fuchs' endothelial corneal dystrophy (FECD). METHODS: Sixty-one unrelated German patients with FECD and 113 unaffected controls were investigated and genotyped for the CTG18.1 locus by triplet primed PCR (TP-PCR) and the rs613872 polymorphism via Sanger sequencing and by employing genomic DNA from peripheral blood leucocytes...
August 2017: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/28481834/immunohistochemical-profiling-of-corneas-with-fuchs-endothelial-corneal-dystrophy
#13
An-Katrien De Roo, Thomas Janssens, Beatrijs Foets, Joost J van den Oord
PURPOSE: Fuchs endothelial corneal dystrophy (FECD) is the leading indication for endothelial keratoplasty. Further insight into its pathophysiology is needed to develop alternative therapies. METHODS: Sixteen genes from a previous microarray expression experiment (FECD vs. normal) were validated using immunohistochemistry on paraffin-embedded corneas (n = 6 FECD, n = 6 normal). The results were quantified manually and semiautomatically. RESULTS: A higher percentage of corneal endothelial cells stained for alpha-smooth muscle actin (αSMA), cytokeratin 7, and superoxide dismutase 3 in FECD versus normal [odds ratios (ORs) of 60...
July 2017: Cornea
https://www.readbyqxmd.com/read/28410548/two-year-clinical-outcome-of-500-consecutive-cases-undergoing-descemet-membrane-endothelial-keratoplasty
#14
Jorge Peraza-Nieves, Lamis Baydoun, Isabel Dapena, Abbas Ilyas, Laurence E Frank, Salvatore Luceri, Lisanne Ham, Silke Oellerich, Gerrit R J Melles
PURPOSE: To evaluate the clinical outcome of 500 consecutive cases up to 2 years after Descemet membrane endothelial keratoplasty (DMEK) and to assess which parameters may have influenced the clinical outcome. METHODS: From a group of 500 eyes (393 patients), which underwent DMEK for Fuchs endothelial corneal dystrophy (FECD), bullous keratopathy, failed corneal transplants and other indications, clinical outcomes [best-corrected visual acuity (BCVA), central endothelial cell density (ECD), and central corneal thickness] were evaluated before, and at 6, 12, and 24 months after DMEK and postoperative complications were documented...
June 2017: Cornea
https://www.readbyqxmd.com/read/28410355/descemetorhexis-without-graft-placement-for-the-treatment-of-fuchs-endothelial-dystrophy-preliminary-results-and-review-of-the-literature
#15
Alfonso Iovieno, Alberto Neri, Anna Maria Soldani, Chantal Adani, Luigi Fontana
PURPOSE: To report our preliminary experience with a central descemetorhexis without graft placement in Fuchs endothelial corneal dystrophy (FECD) and to review the existing literature on the topic. METHODS: A 4-mm central descemetorhexis was performed in 5 patients (4 women, 1 man; mean age: 69.8 ± 8.6 yrs; range: 57-78 yrs) with FECD. All patients had central confluent guttae, undetectable central endothelial cell count, healthy peripheral corneal endothelium, no clinically evident bullous keratopathy, and no ocular comorbidities...
June 2017: Cornea
https://www.readbyqxmd.com/read/28384203/comprehensive-characterization-of-dna-methylation-changes-in-fuchs-endothelial-corneal-dystrophy
#16
Emily Khuc, Russell Bainer, Marie Wolf, Selene M Clay, Daniel J Weisenberger, Jacquelyn Kemmer, Valerie M Weaver, David G Hwang, Matilda F Chan
Transparency of the human cornea is necessary for vision. Fuchs Endothelial Corneal Dystrophy (FECD) is a bilateral, heritable degeneration of the corneal endothelium, and a leading indication for corneal transplantation in developed countries. While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases. Epigenetic modifications that occur in FECD are unknown. Here, we report on and compare the DNA methylation landscape of normal human corneal endothelial (CE) tissue and CE from FECD patients using the Illumina Infinium HumanMethylation450 (HM450) DNA methylation array...
2017: PloS One
https://www.readbyqxmd.com/read/28358029/genome-wide-association-study-identifies-three-novel-loci-in-fuchs-endothelial-corneal-dystrophy
#17
Natalie A Afshari, Robert P Igo, Nathan J Morris, Dwight Stambolian, Shiwani Sharma, V Lakshmi Pulagam, Steven Dunn, John F Stamler, Barbara J Truitt, Jacqueline Rimmler, Abraham Kuot, Christopher R Croasdale, Xuejun Qin, Kathryn P Burdon, S Amer Riazuddin, Richard Mills, Sonja Klebe, Mollie A Minear, Jiagang Zhao, Elmer Balajonda, George O Rosenwasser, Keith H Baratz, V Vinod Mootha, Sanjay V Patel, Simon G Gregory, Joan E Bailey-Wilson, Marianne O Price, Francis W Price, Jamie E Craig, John H Fingert, John D Gottsch, Anthony J Aldave, Gordon K Klintworth, Jonathan H Lass, Yi-Ju Li, Sudha K Iyengar
The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10(-8)): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114...
March 30, 2017: Nature Communications
https://www.readbyqxmd.com/read/28346276/comparison-of-noncontact-specular-and-confocal-microscopy-for-evaluation-of-corneal-endothelium
#18
Jianyan Huang, Jyotsna Maram, Tudor C Tepelus, Srinivas R Sadda, Vikas Chopra, Olivia L Lee
PURPOSE: To compare endothelial cell analysis obtained by noncontact specular and confocal microscopy, using the Konan NSP-9900 and Nidek ConfoScan4 systems, respectively. METHODS: Three groups including 70 healthy eyes, 49 eyes with Fuchs endothelial corneal dystrophy (FECD), and 78 eyes with glaucoma were examined with both the Konan NSP-9900 specular microscope and the Nidek ConfocScan4 confocal microscope. Certified graders at the Doheny Image Reading Center compared corneal endothelial images from both instruments side by side to assess image quality...
March 24, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28258620/changes-in-lipidomic-profile-of-aqueous-humour-in-fuchs-endothelial-dystrophy
#19
Javier Cabrerizo, Javier Aritz Urcola, Elena Vecino, Gerrit Melles
PURPOSE: To identify and determine differences in lipid profile of aqueous humour (AH) in patients with Fuchs endothelial corneal dystrophy (FECD). METHODS: Lipidomic profile of eight AH samples of FECD patients and 10 control samples was analysed. Patients with previous history of anterior segment surgery, anterior segment pathology or intraocular injections were excluded. Topical ocular medications within the last 6 months were reported. Aqueous humour (AH) was obtained during the first step of Descemet membrane endothelial keratoplasty in FECD patients and during refractive lensectomy in the control group...
March 4, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28135362/identification-of-circulating-fibrocytes-and-dendritic-derivatives-in-corneal-endothelium-of-patients-with-fuchs-dystrophy
#20
An-Katrien De Roo, Jasper Wouters, Olivier Govaere, Beatrijs Foets, Joost J van den Oord
Purpose: Fuchs' endothelial corneal dystrophy (FECD) is a degenerative eye disorder affecting 4% of Americans older than 40. It is the leading indication for corneal endothelial (CE) transplantation for which there is a global donor shortage. This study aimed to gain further insight into the pathophysiology of FECD and identify targets for nonsurgical therapy. Methods: CE from patients with late-onset FECD was compared with that of normal controls using microarray expression analysis (n = 4 FECD, n = 4 normal), reverse transcriptase quantitative PCR (n = 9 FECD, n = 8 normal), and immunohistology (n = 55 FECD, n = 15 normal)...
January 1, 2017: Investigative Ophthalmology & Visual Science
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