Finishing the euchromatic sequence of the human genome

The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead

Retinal vessel caliber and diabetic retinopathy.

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Current management of diabetic tractional retinal detachments

Twenty-five percent of diabetes-related vision loss stems from complications of proliferative diabetic retinopathy (PDR). Panretinal photocoagulation has been the preferred treatment of high-risk PDR for decades and more recently intravitreal injections of drugs that inhibit the actions of vascular endothelial growth factor have become popular. But despite these treatments PDR may progress uncontrollably to advanced pathologies such as traction retinal detachments (TRDs), combined traction/rhegmatogenous retinal detachments (TRD/RRDs), vitreous hemorrhages, rubeosis iridis, and traction maculopathies, which produce mild-to-severe loss of vision. TDR have long been the most common indication for PDR-related vitreoretinal surgery. Vitrectomy surgery is indicated for recent (6 months duration) may also benefit. Combined TRD/RRD represents a particularly challenging surgical condition but advances in surgical instrumentation, dissection techniques, and post-operative tamponade have produced excellent success rates. The recent development of small-gauge vitrectomy systems has persuaded most surgeons to switch platforms since these appear to produce shorter surgical times and quicker post-operative recoveries. Pre-operative injections of bevacizumab are frequently administered for persistent neovascularization to facilitate surgical dissection of pre-retinal fibrosis and reduce the incidence of post-operative hemorrhages. Recent trends toward earlier surgical intervention and expanded indications are likely to continue as surgical instrumentation and techniques are further developed

Detection of Antisynthetic Mannoside Antibodies (AΣMA) Reveals Heterogeneity in the ASCA Response of Crohn's Disease Patients and Contributes to Differential Diagnosis, Stratification, and Prediction

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