Results 1 to 10 of about 36,181 (216)

Structural and Functional Insight into Intracameral Cefuroxime Ocular Toxic Syndrome (ICOTS) in Eyes with Disrupted Intraocular Barrier [PDF]

Ophthalmology and Therapy
Introduction Intracameral cefuroxime is commonly used as a prophylaxis against endophthalmitis following cataract surgery. While its effectiveness is well-documented, concerns remain regarding potential toxicity.
Andrea Cusumano, Marco A. Pileri, Benedetto Falsini, Massimo Cesareo, Michele D’Ambrosio, Fabian D’Apolito, Francesco Martelli, Marco Lombardo   +7 more
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Expanding Genetic and Clinical Spectra of Inherited Retinal Dystrophies: Identification of Three Novel PRPH2 Variants [PDF]

Biomedicines
Background/Objectives: Pathogenic variants in the PRPH2 gene are implicated in a wide spectrum of Inherited Retinal Dystrophies (IRDs), which show significant phenotypic heterogeneity.
Raffaella Cascella, Jacopo Sebastiani, Claudia Strafella, Giulia Calvino, Sarah Andreucci, Michele D’ambrosio, Stefania Zampatti, Jung Hee Levialdi Ghiron, Benedetto Falsini, Andrea Cusumano, Emiliano Giardina   +10 more
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Longitudinal Structure–Function Evaluation in a Patient with CDHR1-Associated Retinal Dystrophy: Progressive Visual Function Loss with Retinal Remodeling

Diagnostics, 2023
Background: Retinal dystrophies related to damaging variants in the cadherin-related family member 1 (CDHR1) gene are rare and phenotypically heterogeneous.
Andrea Cusumano, Benedetto Falsini, Fabian D’Apolito, Michele D’Ambrosio, Jacopo Sebastiani, Raffaella Cascella, Shila Barati, Emiliano Giardina   +7 more
doaj   +1 more source

Cross-Validation of Next-Generation Sequencing Technologies for Diagnosis of Chromosomal Mosaicism and Segmental Aneuploidies in Preimplantation Embryos Model

Life, 2021
Detection of mosaic embryos is crucial to offer more possibilities of success to women undergoing in vitro fertilization (IVF) treatment. Next Generation Sequencing (NGS)-based preimplantation genetic testing are increasingly used for this purpose since ...
Anil Biricik, Ettore Cotroneo, Maria Giulia Minasi, Pier Francesco Greco, Sara Bono, Matteo Surdo, Federica Lecciso, Mariateresa Sessa, Francesco Fiorentino, Francesca Spinella, Ermanno Greco   +10 more
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Long-Term Structural and Functional Assessment of Doyne Honeycomb Retinal Dystrophy following Nanosecond 2RT Laser Treatment: A Case Series

Case Reports in Ophthalmology, 2023
Introduction: Doyne honeycomb retinal dystrophy (DHRD), or autosomal dominant radial drusen, is a genetic disease caused by pathogenic variants of the epidermal growth factor (EGF)-containing fibulin-like extracellular matrix protein 1 EFEMP1 gene and is
Andrea Cusumano, Benedetto Falsini, Michele D'Ambrosio, Fabian D'Apolito, Jacopo Sebastiani, Jung Hee Levialdi Ghiron, Emiliano Giardina, Raffaella Cascella   +7 more
doaj   +1 more source

Transparencia pública, genoma y datos genéticos

Revista Española de la Transparencia, 2023
Las actuaciones sobre el genoma, la información y los datos genéticos presentan riesgos para los derechos fundamentales, incluido el derecho a la protección de datos personales, y para la dignidad y libertad humana.
Jesús Jiménez López
doaj   +1 more source

Aplicación farmacogenómica de los genes CYP2C19, CYP2C9 y VKORC1 implicados en el metabolismo de los fármacos clopidogrel y warfarina

Revista Colombiana de Cardiología, 2018
Resumen: El estudio de las variaciones de las secuencias de ADN y ARN en relación con la respuesta a diferentes fármacos, se ha convertido en un área de estudio particularmente prometedora para la aplicación en genómica clínica y estudios de genomas ...
Sara Vélez Gómez, Isaura Torres, Rubén Darío Manrique, Mauricio Duque, Juan Esteban Gallo   +4 more
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Utilidad del gen SLCO1B1 como marcador de interés en la farmacogenómica de las estatinas

Revista Colombiana de Cardiología, 2019
Resumen: Las enfermedades cardiovasculares son la principal causa de muerte en el mundo. Fármacos hipolipemiantes como las estatinas son la primera alternativa en la prevención primaria de eventos cardiovasculares, ictus cerebrales y procedimientos de ...
Melissa Robledo, Isaura Torres, Rubén D. Manrique, Mauricio Duque, Juan E. Gallo   +4 more
doaj   +1 more source

Genes y Mutaciones Implicados en Distrofias Retinianas

Revista Oftálmica, 2023
INTRODUCCIÓN: Las enfermedades retinianas hereditarias (IRD por sus siglas en inglés), son un grupo heterogéneo de enfermedades visualmente debilitantes causadas por la variación patogénica en proteínas críticas para la función retiniana. El diagnóstico
Delia Porras
doaj   +1 more source

Genomic-based restriction enzyme selection for specific detection of Piscirickettsia salmonis by 16S rDNA PCR-RFLP

Frontiers in Microbiology, 2016
The gram negative facultative bacterium P. salmonis is the etiological agent of Salmonid Rickettsial Septicaemia (SRS), a severe disease that causes important economic losses in the global salmon farmer industry.
Dinka eMandakovic, Dinka eMandakovic, Benjamín eGlasner, Jonathan eMaldonado, Jonathan eMaldonado, Pamela eAravena, Pamela eAravena, Mauricio eGonzalez, Mauricio eGonzalez, Mauricio eGonzalez, Verónica eCambiazo, Verónica eCambiazo, Verónica eCambiazo, Rodrigo ePulgar, Rodrigo ePulgar, Rodrigo ePulgar   +15 more
doaj   +1 more source