Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India

<p>Abstract</p> <p>Background</p> <p>Mutations in <it>COL8A2 </it>gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). Heterozygous mutations in the <it>SLC4A11 </it>gene are also known to cause late-onset FECD. Therefore we screened for <it>COL8A2</it>, <it>SLC4A11 </it>gene variants in Indian FECD patients.</p> <p>Methods</p> <p>Eighty patients with clinically diagnosed FECD and 100 age matched normal individuals were recruited. Genomic DNA was isolated from peripheral blood leukocytes. Mutations in <it>COL8A2</it>, <it>SLC4A11 </it>coding regions were screened using bi-directional sequencing. Fischer's exact test or Pearson's chi squared test were used to predict the statistical association of genotypes with the phenotype.</p> <p>Results</p> <p>Screening of <it>COL8A2 </it>gene revealed 2 novel c.1610G>A, c.1643A>G and 3 reported variations c.112G>A, c.464G>A and c.1485G>A. In <it>SLC4A11 </it>gene, novel c.1659C>T, c.1974C>T and reported c.405G>A, c.481A>C and c.639G>A variants were identified. However all the variations in both the genes were also present in unaffected controls.</p> <p>Conclusions</p> <p>This is the first study analysing <it>COL8A2 </it>gene in Indian patients with FECD. No pathogenic mutations were identified in <it>COL8A2</it>. Merely silent changes, which showed statistically insignificant association with FECD, were identified in the screening of <it>SLC4A11 </it>gene. These results suggest that <it>COL8A2</it>, <it>SLC4A11 </it>genes may not be responsible for FECD in patients examined in this study.</p

The role of proteomics in depression research

Depression is a severe neuropsychiatric disorder affecting approximately 10% of the world population. Despite this, the molecular mechanisms underlying the disorder are still not understood. Novel technologies such as proteomic-based platforms are beginning to offer new insights into this devastating illness, beyond those provided by the standard targeted methodologies. Here, we will show the potential of proteome analyses as a tool to elucidate the pathophysiological mechanisms of depression as well as the discovery of potential diagnostic, therapeutic and disease course biomarkers

Nothing Lasts Forever: Environmental Discourses on the Collapse of Past Societies

The study of the collapse of past societies raises many questions for the theory and practice of archaeology. Interest in collapse extends as well into the natural sciences and environmental and sustainability policy. Despite a range of approaches to collapse, the predominant paradigm is environmental collapse, which I argue obscures recognition of the dynamic role of social processes that lie at the heart of human communities. These environmental discourses, together with confusion over terminology and the concepts of collapse, have created widespread aporia about collapse and resulted in the creation of mixed messages about complex historical and social processes

Is an iris claw IOL a good option for correcting surgically induced aphakia in children? A review of the literature and illustrative case study

Refractive correction of aphakia in childhood can be a complex management issue following lensectomy for congenital cataract or ectopia lentis. Some children have inadequate capsular support to allow an ‘in the bag’ or sulcus fixated intra-ocular lens (IOL). In such cases, options for refractive correction include spectacles, contact lenses or surgically fixed IOLs. Many methods of intra-ocular IOLs fixation have been described and none widely adopted in children. In recent years, the iris fixated Artisan Aphakic IOL (Ophtec BV, Groningen, The Netherlands) has gained popularity but there is still significant concern about the rate of corneal endothelial cell loss and IOL de-enclavation. Here, we review the current literature on the use of iris fixated IOLs in children, the published data on endothelial cell loss and deenclavation rates. We present a case illustrating the significant improvements in quality of life which can be seen in selected children but also the rate of endothelial cell loss which can be encountered after initial surgery and a re-enclavation event. We make the case that until more data is available on normal endothelial cell decline in early childhood in addition to age specific rates of endothelial cell loss and deenclavation rates following surgery, the use of iris fixated IOLs in children will continue to be a moot point and is unlikely to be widely adopted