RESUMO
BACKGROUND: The conduct of international collaborative genomics research raises distinct ethical challenges that require special consideration, especially if conducted in settings that are research-naïve or resource-limited. Although there is considerable literature on these issues, there is a dearth of literature chronicling approaches taken to address these issues in the field. Additionally no previous ethical guidelines have been developed to support similar research in Trinidad and Tobago. METHODS: A literature review was undertaken to identify strategies used to address common ethical issues relevant to human genetics and genomics research in research-naïve or resource-limited settings. Strategies identified were combined with novel approaches to develop a culturally appropriate, multifaceted strategy to address potential challenges in the Genetics Substudy of the National Eye Survey of Trinidad and Tobago (GSNESTT). RESULTS: Regarding the protection of study participants, we report a decision to exclude children as participants; the use of a Community Engagement and Sensitization Strategy to increase the genetic literacy of the target population; the involvement of local expertise to ensure cultural sensitivity and to address potential comprehension barriers in informed consent; and an audit of the informed consent process to ensure valid consent. Concerning the regulation of the research, we report on ethics approvals from relevant authorities; a Materials Transfer Agreement to guide sample ownership and export; and a Sample Governance Committee to oversee data use and data access. Finally regarding the protection of the interests of scientists from the host country, we report on capacity building efforts to ensure that local scientists have access to data collected through the project and appropriate recognition of their contributions in future publications. CONCLUSION: This paper outlines an ethical framework for the conduct of population-based genetics and genomics research in Trinidad and Tobago; highlights common issues arising in the field and strategies to address these.
RESUMO
PURPOSE: The aim of this study was to report a case series of epithelial downgrowth associated with Descemet stripping automated endothelial keratoplasty (DSAEK) and to explore the origin of the anterior chamber corneal epithelium. METHODS: This is a case series and literature review. RESULTS: Three histopathologically confirmed cases of epithelial downgrowth after DSAEK were identified. All cases were treated with argon laser ablation, intracameral 5-fluorouracil, and intraocular surgery. Recurrent epithelial downgrowth occurred in 2 of 3 cases. Fluorescent in situ hybridization analysis with fluorescent probes for X and Y chromosomes was used to analyze epithelial downgrowth tissues in all cases. All 3 cases were consistent with donor tissue origin of epithelial downgrowth tissue. However, this could only be confirmed in 1 case. The donor and the recipient were the same sex in 2 cases; thus, no definitive conclusion was possible in these patients. CONCLUSIONS: There have been multiple reports of epithelial downgrowth after DSAEK. We include additional evidence to support the role of donor tissue corneal cells as the source of epithelium in some of these cases. It is surprising that donor tissue would be tolerated immunologically by the patient in these cases. We propose that tolerance for donor epithelium may be mediated through anterior chamber-associated immune deviation.
Assuntos
Câmara Anterior/patologia , Ceratoplastia Endotelial com Remoção da Lâmina Limitante Posterior , Epitélio Corneano/patologia , Distrofia Endotelial de Fuchs/cirurgia , Complicações Pós-Operatórias , Idoso , Linhagem da Célula , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Doadores de TecidosRESUMO
Coding variants in both myocilin (MYOC) and optineurin (OPTN) are reported risk factors for primary open-angle glaucoma (POAG) in many populations. This study investigated the contribution of MYOC and OPTN coding variants in Hispanics of Mexican descent with and without POAG. We conducted a case-control study of unrelated POAG cases and nonglaucomatous controls in a population of Hispanics of Mexican descent. Ascertainment criteria for POAG included the presence of glaucomatous optic neuropathy with associated visual field loss and the absence of secondary causes of glaucoma. Controls had normal optic nerves, visual fields and intraocular pressure. All coding exons of MYOC and OPTN were sequenced. The data set consisted of 88 POAG cases and 93 controls. A novel nonsynonymous coding variant (R7H) in the first exon of MYOC was identified. Other identified variants in MYOC and OPTN have been previously described and do not seem to contribute to POAG risk. This is the first comprehensive study of MYOC and OPTN in Hispanics of Mexican descent with POAG. Neither MYOC nor OPTN sequence variants seem to have a major role in the etiology of POAG in this population.