Gene's hubs in retinal diseases: A retinal disease network.

BACKGROUND: Retinal diseases associated with the dysfunction or death of photoreceptors are a major cause of blindness around the world, improvements in genetics tools, like next generation sequencing (NGS) allows the discovery of genes and genetic changes that lead to many of those retinal diseases. Though, there very few databases that explores a wide spectrum of retinal diseases, phenotypes, genes, and proteins, thus creating the need for a more comprehensive database, that groups all these parameters. METHODS: Multiple open access databases were compiled into a new comprehensive database. A biological network was then crated, and organized using Cytoscape. The network was scrutinized for presence of hubs, measuring the concentration of grouped nodes. Finally, a trace back analysis was performed in areas were the power law reports a high r-squared value near one, that indicates high nodes density. RESULTS: This work leads to creation of a retinal database that includes 324 diseases, 803 genes, 463 phenotypes, and 2461 proteins. Four biological networks (1) a disease and gene network connected by common phenotypes, (2) a disease and phenotype network connected by common genes, (3) a disease and gene network with shared disease or gene as the cause of an edge, and (4) a protein and disease network. The resulting networks will allow users to have easier searching for retinal diseases, phenotypes, genes, and proteins and their interrelationships. CONCLUSIONS: These networks have a broader range of information than previously available ones, helping clinicians in the comprehension of this complex group of diseases.

Cattle, pets, and Paget's disease of bone.

To identify animal-related factors associated with Paget's disease of bone (osteitis deformans), we conducted a case-control study in two geographical areas of Spain characterized by different socioeconomic profiles. The analysis presented here is based on 149 cases and 150 controls, frequency matched by sex, age, study area, and place of residence in youth (urban/rural). From a logistic regression analysis, we found that contact with bovine cattle [odds ratio (OR) = 2.14; 95% confidence interval (CI) = 1.16-3.94], consumption of meat traceable to sick livestock (OR = 2.70; 95% CI = 0.98-7.43), and frequent consumption during youth of brains (OR = 1.77; 95% CI = 1.05-2.98) and other viscera increased the risk for Paget's disease of bone. Contact with bovine cattle and consumption during youth of bovid viscera exhibited a dose-response effect as regards length of exposure and frequency of consumption, respectively. A life-style shared with dogs showed itself to be differentially linked to the disease in one study area. Overall, our results support the hypothesis that various animal species are carriers of etiologic agents of Paget's disease of bone.

Rheumatoid nodulosis: report of a case with evidence of intraosseous rheumatoid granuloma.

We describe a patient who had multiple subcutaneous rheumatoid nodules associated with episodes of acute intermittent arthritis and subchondral cystic lesions of the small bones of the hands and feet; this condition is termed "rheumatoid nodulosis." The patient had a cystic lesion in communication with the joint cavity, rheumatoid granulomas, and evidence of a central zone of necrosis opening toward the joint space. His case is compared with 8 previously reported cases, and possible etiologies of the subchondral bone cyst formation in rheumatoid nodulosis are discussed.