18 research outputs found
Goldilocks and the three training models: A comparison of three models of low vision reading training on reading efficiency
A study to explore the risk factors for the early onset of cataract in India.
PURPOSE: The aim of this study was to identify risk factors for the development of cataract in young patients. SETTINGS: The study was undertaken at Iladevi Cataract and IOL Research Centre, Ahmedabad, Gujarat, India. METHODS: In a clinic-based observational study, 340 consecutive patients in the age group of 30-45 years presenting with nuclear, cortical, posterior subcapsular (PSC), mixed, and posterior polar cataract were prospectively studied. A detailed history regarding sunlight exposure, atopy, diabetes, steroid intake, myopia, glaucoma, and uveitis was elicited. RESULTS: The mean age of the patients was 40.2+/-4.6 years; there were 202 men. The major risk factors were atopy (25.6%), idiopathic (19.1%), high myopia (12.4%), atopy with steroid intake (10.9%), steroid usage (7.4%), sunlight exposure (3.8%), and diabetes mellitus (3.2%). PSC was observed in 53.5% eyes. Multinomial logistic regression revealed that atopy (P=0.016), steroid usage (P=0.100), and diabetes mellitus (P=0.076) documented higher odds for PSC. High myopia (P<0.001) and sunlight exposure (P=0.003) documented higher odds for nuclear cataract. CONCLUSION: Atopy was found to be the most common risk factor associated with the development of cataract in young individuals. PSC was the predominant type of cataract prevalent in young patients
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome region
Haemoglobin, magnetic resonance imaging markers and cognition: a subsample of population-based study
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. Using genome-wide association single-nucleotide polymorphism data from the Glaucoma Genes and Environment study and National Eye Institute Glaucoma Human Genetics Collaboration comprising 3,108 cases and 3,430 controls, we assessed biologic pathways as annotated in the KEGG database for association with risk of POAG. After correction for genic overlap among pathways, we found 4 pathways, butanoate metabolism (hsa00650), hematopoietic cell lineage (hsa04640), lysine degradation (hsa00310) and basal transcription factors (hsa03022) related to POAG with permuted p < 0.001. In addition, the human leukocyte antigen (HLA) gene family was significantly associated with POAG (p < 0.001). In the POAG subset with normal-pressure glaucoma (NPG), the butanoate metabolism pathway was also significantly associated (p < 0.001) as well as the MAPK and Hedgehog signaling pathways (hsa04010 and hsa04340), glycosaminoglycan biosynthesis-heparan sulfate pathway (hsa00534) and the phenylalanine, tyrosine and tryptophan biosynthesis pathway (hsa0400). The butanoate metabolism pathway overall, and specifically the aspects of the pathway that contribute to GABA and acetyl-CoA metabolism, was the only pathway significantly associated with both POAG and NPG. Collectively these results implicate GABA and acetyl-CoA metabolism in glaucoma pathogenesis, and suggest new potential therapeutic targets