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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
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
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
Asbjørg Stray-Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Ivan K Chinn, Zeynep H Coban Akdemir, Hans Christian Erichsen, Lisa R Forbes, Shen Gu, Bo Yuan, Shalini N Jhangiani, Donna M Muzny, Olaug Kristin Rødningen, Ying Sheng, Sarah K Nicholas, Lenora M Noroski, Filiz O Seeborg, Carla M Davis, Debra L Canter, Emily M Mace, Timothy J Vece, Carl E Allen, Harshal A Abhyankar, Philip M Boone, Christine R Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E Tjønnfjord, Tobias Gedde-Dahl, Henrik Hjorth-Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F Jørgensen, Tore G Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv T N Osnes, Mari Ann Kulseth, Trine E Prescott, Cecilie F Rustad, Ketil R Heimdal, John W Belmont, Nicholas L Rider, Javier Chinen, Tram N Cao, Eric A Smith, Maria Soledad Caldirola, Liliana Bezrodnik, Saul Oswaldo Lugo Reyes, Francisco J Espinosa Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, Cecilia M Poli, Jose L Franco, Claudia M Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B Issekutz, Andrew C Issekutz, Jordan Abbott, Jason W Caldwell, Diana K Bayer, Alice Y Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yesil, Hasibe Artac, Yavuz Bayram, Mehmed Musa Atik, Mohammad K Eldomery, Mohammad S Ehlayel, Stephen Jolles, Berit Flatø, Alison A Bertuch, I Celine Hanson, Victor W Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M Eng, Eric Boerwinkle, Richard A Gibbs, William T Shearer, Robert Lyle, Jordan S Orange, James R Lupski
BACKGROUND: Primary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions. OBJECTIVE: We sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs...
July 16, 2016: Journal of Allergy and Clinical Immunology
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
Pablo Ares, Fernando Aguilar-Galindo, David Rodríguez-San-Miguel, Diego A Aldave, Sergio Díaz-Tendero, Manuel Alcamí, Fernando Martín, Julio Gómez-Herrero, Félix Zamora
On page 6332, J. Gómez-Herrero, F. Zamora, and co-workers describe the isolation of antimonene, a new allotrope of antimony that consists of a single layer of atoms. They obtain antimonene flakes by the scotch tape method; these flakes are highly stable in ambient conditions and even when immersed in water. The 1.2 eV gap calculated in this study suggests potential applications in optoelectronics.
August 2016: Advanced Materials
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
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
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
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
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
Pablo Ares, Fernando Aguilar-Galindo, David Rodríguez-San-Miguel, Diego A Aldave, Sergio Díaz-Tendero, Manuel Alcamí, Fernando Martín, Julio Gómez-Herrero, Félix Zamora
Antimonene fabricated by mechanical exfoliation is highly stable under atmospheric conditions over periods of months and even when immersed in water. Density functional theory confirms the experiments and predicts an electronic gap of ≈1 eV. These results highlight the use of antimonene for optoelectronics applications.
August 2016: Advanced Materials
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
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
Mariana Angélica de Souza, Marisa Maia Leonardi Figueiredo, Cyntia Rogean de Jesus Alves de Baptista, Robson Devanir Aldaves, Ana Claudia Mattiello-Sverzut
BACKGROUND: Orthosis use prevents muscle contracture and prolongs ambulation in patients with Duchenne muscular dystrophy (DMD). However, its biomechanical effects on gait are unclear. This study assessed the effects of daytime and night-time use of Articulated Ankle Foot Orthosis (AFO) on kinematic, kinetic and spatial/temporal gait parameters of DMD patients. METHODS: Twenty ambulatory patients (4-12years of age) were assigned to one of three groups: no orthosis (NoO; n=7), night-time orthosis (NiO; n=7), day-time orthosis (DO; n=6)...
June 2016: Clinical Biomechanics
Julie Toubiana, Satoshi Okada, Julia Hiller, Matias Oleastro, Macarena Lagos Gomez, Juan Carlos Aldave Becerra, Marie Ouachée-Chardin, Fanny Fouyssac, Katta Mohan Girisha, Amos Etzioni, Joris Van Montfrans, Yildiz Camcioglu, Leigh Ann Kerns, Bernd Belohradsky, Stéphane Blanche, Aziz Bousfiha, Carlos Rodriguez-Gallego, Isabelle Meyts, Kai Kisand, Janine Reichenbach, Ellen D Renner, Sergio Rosenzweig, Bodo Grimbacher, Frank L van de Veerdonk, Claudia Traidl-Hoffmann, Capucine Picard, Laszlo Marodi, Tomohiro Morio, Masao Kobayashi, Desa Lilic, Joshua D Milner, Steven Holland, Jean-Laurent Casanova, Anne Puel
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with them needed to be delineated. We enrolled 274 patients from 167 kindreds originating from 40 countries from 5 continents. Demographic data, clinical features, immunological parameters, treatment, and outcome were recorded. The median age of the 274 patients was 22 years (range, 1-71 years); 98% of them had CMC, with a median age at onset of 1 year (range, 0-24 years)...
June 23, 2016: Blood
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
Luciana K Tanno, Razvigor Darlenski, Silvia Sánchez-Garcia, Matteo Bonini, Andrea Vereda, Pavel Kolkhir, Dario Antolin-Amerigo, Vesselin Dimov, Claudia Gallego-Corella, Juan Carlos Aldave Becerra, Alexander Diaz, Virginia Bellido Linares, Leonor Villa, Lanny J Rosenwasser, Mario Sanchez-Borges, Ignacio Ansotegui, Ruby Pawankar, Thomas Bieber
BACKGROUND: Skin patch test is the gold standard method in diagnosing contact allergy. Although used for more than 100 years, the patch test procedure is performed with variability around the world. A number of factors can influence the test results, namely the quality of reagents used, the timing of the application, the patch test series (allergens/haptens) that have been used for testing, the appropriate interpretation of the skin reactions or the evaluation of the patient's benefit...
2016: World Allergy Organization Journal
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
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
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