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1.
Mol Biol Rep ; 50(12): 9769-9778, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37700140

RESUMO

BACKGROUND: Diabetic Retinopathy (DR) is one of the major microvascular complications of diabetes. Being a complex disease, it is important to delineate the genetic and environmental factors that influence the susceptibility to DR in a population. Therefore, the present study was designed to investigate the role of genetic and lifestyle risk factors associated with DR susceptibility in a North-Indian population. METHODS: A total of 848 subjects were enrolled, comprising of DR cases (n = 414) and healthy controls (n = 434). The Sequenom MassARRAY technology was used to perform target genome analysis of 111 SNPs across 57 candidate genes and 14 intergenic region SNPs that are involved in the metabolic pathways associated with type 2 diabetes (T2D) and DR. Allele, genotype and haplotype frequencies were determined and compared among cases and controls. Logistic regression models were used to determine genotype-phenotype and phenotype-phenotype correlations. RESULTS: The strongest association was observed with TCF7L2 rs12255372 T allele [p < 0.0001; odds ratio (OR) = 1.81 (1.44-2.27)] and rs11196205 C allele [p < 0.0008; OR = 1.62 (1.32-1.99)]. Genotype-phenotype and phenotype-phenotype correlations were found in the present study. CONCLUSION: Our study provides strong evidence of association between the TCF7L2 variants and DR susceptibility.


Assuntos
Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Humanos , Diabetes Mellitus Tipo 2/genética , Diabetes Mellitus Tipo 2/complicações , Retinopatia Diabética/genética , Predisposição Genética para Doença , Genótipo , Polimorfismo de Nucleotídeo Único/genética , Genômica , Frequência do Gene/genética , Estudos de Casos e Controles
2.
N Am J Med Sci ; 6(8): 425-7, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25210679

RESUMO

CONTEXT: Endocapsular hematoma has previously been described as a cataract surgery complication more commonly observed in eyes receiving a combined cataract and glaucoma surgery. However, it can also be a rare form of ocular bleed following thrombolysis with streptokinase. CASE REPORT: A 65-year-old diabetic male presented to us with complain of sudden painless diminution of vision in his left eye, which he developed while he was being thrombolysed with streptokinase administered intravenously for an episode of acute myocardial infarct. On examination, left eye was pseudophakic with collection of blood in the capsular bag (Endocapsular hematoma). CONCLUSION: Endocapsular hematoma can be a rare form of ocular bleeding complicated by thrombolysis. Reporting this case becomes more relevant in the present era with increasing number of patients suffering from ischemic heart disease and likely to undergo thrombolysis.

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