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

Spironolactone reduces severity of obstructive sleep apnoea in patients with resistant hypertension: A preliminary report

Obstructive sleep apnoea (OSA) and hyperaldosteronism are very common in subjects with resistant hypertension. We hypothesized that aldosterone-mediated chronic fluid retention may influence OSA severity in patients with resistant hypertension. We tested this in an open-label evaluation by assessing the changes in the severity of OSA in patients with resistant hypertension after treatment with spironolactone. Subjects with resistant hypertension (clinical blood pressure (BP) ≥140/90 mm Hg on ≥3 antihypertensive medications, including a thiazide diuretic and OSA (defined as an apnoea-hypopnoea index (AHI) ≥15) had full diagnostic, polysomnography before and 8 weeks after spironolactone (25-50 mg a day) was added to their ongoing antihypertensive therapy. In all, 12 patients (mean age 56 years and body mass index 36.8 kg m) were evaluated. After treatment with spironolactone, the AHI (39.8±19.5 vs 22.0±6.8 events/h;

Efficacy of anatomical prostheses in primary glenohumeral osteoarthritis

More than 32.8% of the over-60s suffer from shoulder osteoarthritis. For advanced osteoarthritis, arthroplasty is the treatment of choice. Current systems have moved on from the first shoulder prosthesis implanted by Neer in 1974, thanks to the use of adaptable modular systems. The aim of this study was to investigate the effectiveness of anatomical shoulder replacements in 30 cases of primary glenohumeral osteoarthritis through clinical and radiographic follow-up for a mean of 5 years. All implants were total cemented prostheses. Preoperative investigations included a clinical examination, conventional X-rays and CT. The Constant-Murley scale was used to evaluate the results; the mean score increased from 21.4 preoperative to 69.8 postoperative (p<0.05). In patients aged under 50, the increase in the mean postoperative Constant Score and ROM was greater than for the sample as a whole. The following complications were encountered: 2 postoperative radial nerve paralyses, resolving in 3 months, 2 cases of glenoid loosening, 1 periprosthetic fracture and 3 cases of pain and stiffness. The results led us to conclude that anatomical prostheses are effective in the treatment of severe primary glenohumeral arthropathy