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1.
Clin Interv Aging ; 19: 1393-1405, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-39099749

RESUMO

Infectious keratitis (IK) represents a significant global health concern, ranking as the fifth leading cause of blindness worldwide despite being largely preventable and treatable. Elderly populations are particularly susceptible due to age-related changes in immune response and corneal structure. However, research on IK in this demographic remains scarce. Age-related alterations such as increased permeability and reduced endothelial cell density further compound susceptibility to infection and hinder healing mechanisms. Additionally, inflammaging, characterized by chronic inflammation that develops with advanced age, disrupts the ocular immune balance, potentially exacerbating IK and other age-related eye diseases. Understanding these mechanisms is paramount for enhancing IK management, especially in elderly patients. This review comprehensively assesses risk factors, clinical characteristics, and management strategies for bacterial, viral, fungal, and acanthamoeba keratitis in the elderly population, offering crucial insights for effective intervention.


Assuntos
Ceratite , Humanos , Ceratite/tratamento farmacológico , Idoso , Fatores de Risco , Envelhecimento , Ceratite por Acanthamoeba/tratamento farmacológico , Ceratite por Acanthamoeba/terapia , Córnea
2.
Genes (Basel) ; 15(6)2024 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-38927621

RESUMO

The MAF gene encodes a transcription factor in which pathogenic variants have been associated with both isolated and syndromic congenital cataracts. We aim to review the MAF variants in the C-terminal DNA-binding domain associated with non-syndromic congenital cataracts and describe a patient with a novel, disease-causing de novo missense variant. Published reports of C-terminal MAF variants and their associated congenital cataracts and ophthalmic findings were reviewed. The patient we present and his biological parents had genetic testing via a targeted gene panel followed by trio-based whole exome sequencing. A 4-year-old patient with a history of bilateral nuclear and cortical cataracts was found to have a novel, likely pathogenic de novo variant in MAF, NM_005360.5:c.922A>G (p.Lys308Glu). No syndromic findings or anterior segment abnormalities were identified. We report the novel missense variant, c.922A>G (p.Lys308Glu), in the C-terminal DNA-binding domain of MAF classified as likely pathogenic and associated with non-syndromic bilateral congenital cataracts.


Assuntos
Catarata , Mutação de Sentido Incorreto , Proteínas Proto-Oncogênicas c-maf , Humanos , Catarata/genética , Catarata/congênito , Catarata/patologia , Proteínas Proto-Oncogênicas c-maf/genética , Masculino , Pré-Escolar , Domínios Proteicos , Sequenciamento do Exoma
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