Genome-wide association studies have identified thousands of loci for common diseases, but, for the majority of these, the mechanisms underlying disease susceptibility remain unknown. Most associated variants are not correlated with protein-coding changes, suggesting that polymorphisms in regulatory regions probably contribute to many disease phenotypes. Here we describe the Genotype-Tissue Expression (GTEx) project, which will establish a resource database and associated tissue bank for the scientific community to study the relationship between genetic variation and gene expression in human tissues
Bullous Sweet's syndrome is a rare variant of the inflammatory neutrophilic dermatosis characterised by painful bullous skin lesions, fever, leukocytosis and a neutrophilic infiltrate of the dermis. The condition may be classified according to aetiology into classical (idiopathic), malignancy-associated and drug-induced. Neutrophilic infiltration occurs in response to a systemic insult. A punch biopsy for histology and culture is necessary due to its close resemblance to infection. Characteristic histology features a dense infiltration of neutrophils in the upper and mid dermis, oedema in the superficial dermis and endothelial swelling. Treatment with systemic glucocorticosteroids typically results in a dramatic clinical response. This case report illustrates a rare case of bullous Sweet syndrome associated with chronic lymphocytic leukaemia in a 53-year-old man.
The purpose of this study was to evaluate the Swedish screening criteria for referral of children to ophthalmic care after visual acuity testing at the age of 4 years. The screening limit has generally been 0.8. To what extent do children with 0.65 in each eye (0.65/0.65) or 0.65 in one and 0.8 in the other (0.65/0.8) at the age of 4 years have visual defects needing early treatment? Sixty-three children who had failed screening underwent orthoptic and ophthalmologic evaluation. Twenty-four patients (38%) saw 0.65/0.65 or 0.65/0.8 and were studied further. None of them had manifest strabismus. Refractive errors were minor except in 2 patients who had significant hyperopia. Twenty-two of these 24 patients returned for reevaluation at the age of five years and that time 18 of them saw 0.8 or more without treatment. Our findings suggest that children with visual acuity of no less than 0.65 and no more than one line's difference between the eyes at 4 years of age seldom have visual defects needing treatment.
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