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Anthony Aldave

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https://www.readbyqxmd.com/read/27741017/vortex-pattern-of-corneal-deposits-in-granular-corneal-dystrophy-associated-with-the-p-argr555wtrp-mutation-in-tgfbi
#1
Jaffer M Kattan, Juan Carlos Serna-Ojeda, Anushree Sharma, Eung K Kim, Arturo Ramirez-Miranda, Marisa Cruz-Aguilar, Aleck E Cervantes, Ricardo F Frausto, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Anthony J Aldave
PURPOSE: To describe 2 unrelated families with multiple members demonstrating a less commonly recognized vortex pattern of corneal deposits confirmed to be granular corneal dystrophy type 1 (GCD1) after identification of the p.(Arg555Trp) mutation in the transforming growth factor β-induced gene (TGFBI). METHODS: A slit-lamp examination was performed on individuals from 2 families, one of Mexican descent and a second of Italian descent. After DNA extraction from affected individuals and their unaffected relatives, TGFBI screening was performed...
October 12, 2016: Cornea
https://www.readbyqxmd.com/read/27614591/safety-of-concurrent-boston-type-i-keratoprosthesis-and-glaucoma-drainage-device-implantation
#2
Tamara L Lenis, Stephan Y Chiu, Simon K Law, Fei Yu, Anthony J Aldave
PURPOSE: To evaluate the safety of concurrent Boston type I keratoprosthesis (KPro) and glaucoma drainage device (GDD) implantation. DESIGN: Retrospective comparative study of a consecutive cohort of patients. SUBJECTS: Patients who underwent KPro implantation by a single surgeon (A.J.A.) with or without 1 concurrent Ahmed GDD (New World Medical, Inc., Rancho Cucamonga, CA) implantation between January 1, 2005, and January 31, 2015, were included...
September 7, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27581649/multifunctional-ion-transport-properties-of-human-slc4a11-comparison-of-the-slc4a11-b-and-slc4a11-c-variants
#3
Liyo Kao, Rustam Azimov, Xuesi M Shao, Ricardo F Frausto, Natalia Abuladze, Debra Newman, Anthony J Aldave, Ira Kurtz
Congenital hereditary endothelial dystrophy (CHED), Harboyan syndrome (CHED with progressive sensorineural deafness), and potentially a subset of individuals with late-onset Fuchs' endothelial corneal dystrophy are caused by mutations in the SLC4A11 gene that results in corneal endothelial cell abnormalities. Originally classified as a borate transporter, the function of SLC4A11 as a transport protein remains poorly understood. Elucidating the transport function(s) of SLC4A11 is needed to better understand how its loss results in the aforementioned posterior corneal dystrophic disease processes...
November 1, 2016: American Journal of Physiology. Cell Physiology
https://www.readbyqxmd.com/read/27537263/investigating-the-molecular-basis-of-ppcd3-characterization-of-zeb1-regulation-of-col4a3-expression
#4
Duk-Won D Chung, Ricardo F Frausto, Stephan Chiu, Benjamin R Lin, Anthony J Aldave
PURPOSE: To investigate the role of the zinc finger e-box binding homeobox 1 (ZEB1) transcription factor in posterior polymorphous corneal dystrophy 3 by demonstrating its ability to regulate type IV collagen gene transcription via binding to putative E2 box motifs. METHODS: Putative E2 box motifs were identified by in silico analysis within the promoter region of collagen, type IV, alpha3 (COL4A3) and collagen, type IV, alpha4 (COL4A4). To test the ability of ZEB1 to bind to each identified E2 box, electrophoretic mobility shift assays were performed by incubating ZEB1-enriched nuclear extracts with DIG-labeled probes containing one of each of the identified E2 box motifs...
August 1, 2016: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/27402970/variant-lattice-corneal-dystrophy-associated-with-compound-heterozygous-mutations-in-the-tgfbi-gene
#5
Lydia Bai-Tsin Ann, Alessandro Abbouda, Ricardo F Frausto, Samira Huseynli, Kishan Gupta, Jorge L Alió, Anthony J Aldave
BACKGROUND/AIMS: To report the clinical, histopathological and genetic features of a variant of lattice corneal dystrophy (LCD) associated with two pathogenic mutations in the transforming growth factor-B-induced (TGFBI) gene. METHODS: Clinical characterisation was performed by slit lamp examination and in vivo confocal microscopic imaging (IVCM). Histopathological characterisation was performed with light microscopic examination of an excised corneal button and a peripheral blood samples were collected for TGFBI screening...
July 11, 2016: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/27387566/long-term-outcomes-of-the-boston-type-i-keratoprosthesis-in-the-management-of-corneal-limbal-stem-cell-deficiency
#6
Carolina Aravena, Tahir Kansu Bozkurt, Fei Yu, Anthony J Aldave
PURPOSE: To report the long-term outcomes of the Boston type I keratoprosthesis (KPro) in the management of limbal stem cell deficiency (LSCD). METHODS: Retrospective review of KPro procedures performed by a single surgeon from May 1, 2004, to January 1, 2015. RESULTS: One hundred seventy-three KPro procedures were performed in 149 eyes, including 68 in 54 eyes with LSCD. Glaucoma (48% vs. 82%, P < 0.0001) and a history of ≥2 keratoplasties (39% vs...
September 2016: Cornea
https://www.readbyqxmd.com/read/27382485/identification-of-the-first-de-novo-ubiad1-gene-mutation-associated-with-schnyder-corneal-dystrophy
#7
Benjamin R Lin, Ricardo F Frausto, Rosalind C Vo, Stephan Y Chiu, Judy L Chen, Anthony J Aldave
Purpose. To report the identification of the first de novo UBIAD1 missense mutation in an individual with Schnyder corneal dystrophy (SCD). Methods. A slit lamp examination was performed on a 47-year-old woman without a family history of corneal disorders. The proband's parents, two sisters, and son were also examined and genomic DNA from all six individuals was collected. The exons and exon-intron boundaries of UBIAD1 were screened using Sanger sequencing. Identified mutations were screened for in 200 control chromosomes...
2016: Journal of Ophthalmology
https://www.readbyqxmd.com/read/27355326/identification-of-potentially-pathogenic-variants-in-the-posterior-polymorphous-corneal-dystrophy-1-locus
#8
Derek J Le, Duk-Won D Chung, Ricardo F Frausto, Michelle J Kim, Anthony J Aldave
Posterior polymorphous corneal dystrophy 1 (PPCD1) is a genetic disorder that affects corneal endothelial cell function and leads to loss of visual acuity. PPCD1 has been linked to a locus on chromosome 20 in multiple families; however, Sanger sequencing of protein-coding genes in the consensus region failed to identify any causative missense mutations. In this study, custom capture probes were utilized for targeted next-generation sequencing of the linked region in a previously reported family with PPCD1. Variants were detected through two bioinformatics pipelines and filtered according to multiple criteria...
2016: PloS One
https://www.readbyqxmd.com/read/27309958/whole-exome-sequencing-and-segregation-analysis-confirms-that-a-mutation-in-col17a1-is-the-cause-of-epithelial-recurrent-erosion-dystrophy-in-a-large-dominant-pedigree-previously-mapped-to-chromosome-10q23-q24
#9
Benjamin R Lin, Derek J Le, Yabin Chen, Qiwei Wang, D Doug Chung, Ricardo F Frausto, Christopher Croasdale, Richard W Yee, Fielding J Hejtmancik, Anthony J Aldave
PURPOSE: To report identification of a COL17A1 mutation in a family with a corneal dystrophy previously mapped to chromosome 10q23-q24. METHODS: Whole-exome sequencing was performed on DNA samples from five affected family members and two unrelated, unaffected individuals. Identified variants were filtered for those that were: located in the linked interval on chromosome 10q23-q24; novel or rare (minor allele frequency ≤0.01); heterozygous; present in all affected individuals and not in controls; and present in genes that encode proteins expressed in human corneal epithelial cells (reads per kilobase per million ≥1)...
2016: PloS One
https://www.readbyqxmd.com/read/27262766/corneal-endothelium-in-patients-with-anterior-uveitis
#10
Abdullah M Alfawaz, Gary N Holland, Fei Yu, Mathew S Margolis, JoAnn A Giaconi, Anthony J Aldave
PURPOSE: To investigate a possible effect of intraocular inflammation on corneal endothelium by describing corneal endothelial cell density (ECD) and morphologic variables in eyes with anterior uveitis, and to investigate factors that may influence these findings. DESIGN: Cross-sectional, observational study. Observers were not masked. PARTICIPANTS: Volunteers with histories of unilateral or bilateral anterior segment inflammation (anterior, intermediate, or panuveitis); included were 52 patients (84 eyes with uveitis)...
August 2016: Ophthalmology
https://www.readbyqxmd.com/read/27158606/indications-for-and-techniques-of-keratoplasty-at-vietnam-national-institute-of-ophthalmology
#11
Pham Ngoc Dong, Truong Nhu Han, Anthony J Aldave, Hoang Thi Minh Chau
AIM: To report the indications for and techniques of corneal transplantation at Vietnam National Institute of Ophthalmology (VNIO) over a period of 12y (2002-2013). METHODS: Records of patients who had undergone corneal transplantation at VNIO from January 1, 2002 to January 1, 2014 were reviewed to determine the indication for and type of corneal transplant performed. Patient age, gender, indication for corneal transplantation and surgical technique were recorded and analyzed...
2016: International Journal of Ophthalmology
https://www.readbyqxmd.com/read/27113878/development-of-a-nomogram-for-femtosecond-laser-astigmatic-keratotomy-for-astigmatism-after-keratoplasty
#12
Ryan M St Clair, Anushree Sharma, David Huang, Fei Yu, Yakov Goldich, David Rootman, Sonia Yoo, Florence Cabot, Jason Jun, Lijun Zhang, Anthony J Aldave
PURPOSE: To develop a nomogram for femtosecond laser astigmatic keratotomy (AK) to treat post-keratoplasty astigmatism. SETTING: Three academic medical centers. DESIGN: Retrospective interventional case series. METHODS: A review of post-keratoplasty femtosecond laser AK was performed. Uncorrected (UDVA) and corrected (CDVA) distance visual acuities, manifest refraction, and keratometry were recorded preoperatively and 1, 3, 6, and 12 months postoperatively...
April 2016: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/26872417/paraproteinemic-keratopathy-as-the-presenting-sign-of-hematologic-malignancy
#13
Tova E Mannis, Gabriel N Mannis, Emily G Waterhouse, Anthony J Aldave, Jennifer Rose-Nussbaumer
No abstract text is available yet for this article.
September 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/26545318/boston-type-1-keratoprosthesis-versus-repeat-donor-keratoplasty-for-corneal-graft%C3%A2-failure-a-systematic-review-and-meta-analysis
#14
REVIEW
Sumayya Ahmad, Priya M Mathews, Kristina Lindsley, Majed Alkharashi, Frank S Hwang, Sueko M Ng, Anthony J Aldave, Esen Karamursel Akpek
PURPOSE: To compare repeat penetrating keratoplasty (PK) with Boston type I keratoprosthesis (KPro) implantation for full-thickness donor corneal graft failure. DESIGN: Previous donor graft failure is a common indication for both PK and KPro implantation. Selection of the surgical procedure is entirely dependent on the surgeon because there are no studies available for guidance. Therefore, a systematic review was undertaken to examine vision, device retention, graft clarity, and postoperative glaucoma and infection outcomes after repeat PK versus KPro implantation...
January 2016: Ophthalmology
https://www.readbyqxmd.com/read/26382898/international-outcomes-of-the-boston-type-i-keratoprosthesis-in-stevens-johnson-syndrome
#15
MULTICENTER STUDY
Jamie K Alexander, Samar K Basak, Ma Dominga B Padilla, Fei Yu, Anthony J Aldave
PURPOSE: To determine the factors influencing outcomes of Boston type I keratoprosthesis implantation in Stevens-Johnson syndrome (SJS) and to compare the results with those of individuals without SJS. METHODS: This is a multicenter, retrospective, comparative consecutive case series of patients undergoing keratoprosthesis implantation in Los Angeles, Kolkata, and Manila. Statistical analysis was performed to identify significant differences in visual acuity, complications, and retention between SJS and non-SJS populations...
November 2015: Cornea
https://www.readbyqxmd.com/read/26337789/transcriptomic-analysis-of-cultured-corneal-endothelial-cells-as-a-validation-for-their-use-in-cell-replacement-therapy
#16
Ricardo F Frausto, Derek J Le, Anthony J Aldave
The corneal endothelium plays a primary role in maintaining corneal homeostasis and clarity and must be surgically replaced with allogenic donor corneal endothelium in the event of visually significant dysfunction. However, a worldwide shortage of donor corneal tissue has led to a search for alternative sources of transplantable tissue. Cultured human corneal endothelial cells (HCEnC) have been shown to restore corneal clarity in experimental models of corneal endothelial dysfunction in animal models, but characterization of cultured HCEnC remains incomplete...
2016: Cell Transplantation
https://www.readbyqxmd.com/read/26203746/long-term-outcomes-of-epithelial-debridement-and-diamond-burr-polishing-for-corneal-epithelial-irregularity-and-recurrent-corneal-erosion
#17
Rosalind C Vo, Judy L Chen, P James Sanchez, Fei Yu, Anthony J Aldave
PURPOSE: To determine the efficacy of epithelial debridement and diamond burr polishing (ED + DBP) in managing recurrent corneal erosion (RCE) and visually significant epithelial irregularity associated with epithelial basement membrane dystrophy (VS-EBMD). METHODS: Retrospective, interventional, consecutive case series of all ED + DBP procedures performed between December 1, 2002, and December 1, 2014. RESULTS: ED + DBP was performed in 91 eyes (66 patients) for the management of RCE and VS-EBMD...
October 2015: Cornea
https://www.readbyqxmd.com/read/26147836/comparison-of-aciol-retention-with-iol-exchange-in-patients-undergoing-descemet-stripping-automated-endothelial-keratoplasty
#18
COMPARATIVE STUDY
Anjali Tannan, Rosalind C Vo, Judy L Chen, Fei Yu, Sophie X Deng, Anthony J Aldave
PURPOSE: To investigate clinical outcomes in the management of anterior chamber intraocular lenses (ACIOLs) in patients requiring Descemet stripping automated endothelial keratoplasty (DSAEK) for pseudophakic corneal edema. METHODS: This is a retrospective review of DSAEK procedures performed at a single center between May 1, 2006, and August 1, 2014. RESULTS: Forty-three eyes (41 patients) with pseudophakic corneal edema and an ACIOL were identified...
September 2015: Cornea
https://www.readbyqxmd.com/read/26118999/paraproteinemic-keratopathy-the-expanding-diversity-of-clinical-and-pathologic-manifestations
#19
MULTICENTER STUDY
Tatyana Milman, Andrew A Kao, David Chu, Matthew Gorski, Annie Steiner, Carrie Zaslow Simon, Carolyn Shih, Anthony J Aldave, Ralph C Eagle, Frederick A Jakobiec, Ira Udell
PURPOSE: To describe 7 patients with paraproteinemic keratopathy and to highlight the clinical and pathologic diversity of this rare entity and the importance of timely, systemic evaluation. DESIGN: Retrospective, multicenter collaborative case series. PARTICIPANTS: Seven patients with paraproteinemic keratopathy. METHODS: Clinical and pathologic records were reviewed to identify patients with well-documented corneal immunoglobulin deposits...
September 2015: Ophthalmology
https://www.readbyqxmd.com/read/25850706/cornea-preservation-time-study-methods-and-potential-impact-on-the-cornea-donor-pool-in-the-united-states
#20
RANDOMIZED CONTROLLED TRIAL
Jonathan H Lass, Loretta B Szczotka-Flynn, Allison R Ayala, Beth A Benetz, Robin L Gal, Anthony J Aldave, Michelle M Corrigan, Steven P Dunn, Ty L McCall, Sudeep Pramanik, George O Rosenwasser, Kevin W Ross, Mark A Terry, David D Verdier
PURPOSE: The aim of this study was to describe the aims, methods, donor and recipient cohort characteristics, and potential impact of the Cornea Preservation Time Study (CPTS). METHODS: The CPTS is a randomized clinical trial conducted at 40 clinical sites (70 surgeons) designed to assess the effect of donor cornea preservation time (PT) on graft survival 3 years after Descemet stripping automated endothelial keratoplasty (DSAEK). Eyes undergoing surgery for Fuchs endothelial corneal dystrophy or pseudophakic/aphakic corneal edema were randomized to receive donor corneas stored ≤7 days or 8 to 14 days...
June 2015: Cornea
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