CONCLUSIONS
MYO1E mutations are associated with childhood-onset, glucocorticoid-resistant focal segmental glomerulosclerosis. Our data provide evidence of a role of Myo1E in podocyte function and the consequent integrity of the glomerular filtration barrier.”
“Objective: The aim of this study was to determine the feasibility and durability of truly stentless aortic valve replacement using autologous pericardium sutured directly onto the aortic wall.
Methods: Eleven patients (mean age, 55.9 years) requiring aortic valve replacement were recruited. A circular piece of pericardium about 8 cm in diameter was harvested
and treated in 0.6% glutaraldehyde for 10 minutes. The aortic valve was excised and, with the use of specially designed instruments (CardioMend LLC, GW786034 Santa Barbara, Calif), the sinotubular junction was sized and the pericardium was tailored to the required size and shape and then sutured directly onto the aortic wall. The reconstructed valve was assessed directly and by echocardiography at the end of the operation; it was assessed by echocardiography and cardiac magnetic resonance imaging at 6 months and yearly. Computed tomographic scan of the aortic valve to assess for valve calcification was performed at last follow-up.
Results: Hospital mortality was 0%. Mean follow-up was 6.5 years (range, 5.3-7.5 years). Freedom from structural valve
deterioration, thromboembolism, endocarditis and reoperation was 100%, 100%, 72.7%, and 63.6%, respectively. There were 4 reoperations at 4, 13, 15, and 46 months, 3 of them owing to endocarditis and 1 owing to SHP099 mw technical failure noted at the time of surgery. The remaining 7 patients are alive and well with a mean New York Heart Association class of 1.3 and normally functioning aortic valves with no calcification.
Conclusions: Truly stentless aortic valve replacement using autologous pericardium sutured directly onto the aortic wall is safe and feasible and has excellent durability up to 7.5 years with no calcification. (J Thorac Cardiovasc Surg 2011;141:276-83)”
“BACKGROUND
Dupuytren’s
disease is a benign fibromatosis of the hands and fingers that leads to flexion contractures. We hypothesized that multiple genetic and environmental factors influence Proteases inhibitor susceptibility to this disease and sought to identify susceptibility genes to better understand its pathogenesis.
METHODS
We conducted a genomewide association study of 960 Dutch persons with Dupuytren’s disease and 3117 controls (the discovery set) to test for association between the disease and genetic markers. We tested the 35 single-nucleotide polymorphisms (SNPs) most strongly associated with Dupuytren’s disease (P< 1×10-4) in the discovery set in three additional, independent case series comprising a total of 1365 affected persons and 8445 controls from Germany, the United Kingdom, and the Netherlands.
RESULTS
Initially, we observed a significant genomewide association between Dupuytren’s disease and 8 SNPs at three loci.