Lancet
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In about 10% of patients worldwide and more than 50% of patients in Israel, cystic fibrosis results from nonsense mutations (premature stop codons) in the messenger RNA (mRNA) for the cystic fibrosis transmembrane conductance regulator (CFTR). PTC124 is an orally bioavailable small molecule that is designed to induce ribosomes to selectively read through premature stop codons during mRNA translation, to produce functional CFTR. ⋯ In patients with cystic fibrosis who have a premature stop codon in the CFTR gene, oral administration of PTC124 to suppress nonsense mutations reduces the epithelial electrophysiological abnormalities caused by CFTR dysfunction.
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The quality and outcomes framework is a financial incentive scheme that remunerates general practices in the UK for their performance against a set of quality indicators. Incentive schemes can increase inequalities in the delivery of care if practices in affluent areas are more able to respond to the incentives than are those in deprived areas. We examined the relation between socioeconomic inequalities and delivered quality of clinical care in the first 3 years of this scheme. ⋯ Our results suggest that financial incentive schemes have the potential to make a substantial contribution to the reduction of inequalities in the delivery of clinical care related to area deprivation.
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Progress in composite tissue allotransplantation could provide a new treatment for patients with severe facial disfigurements. We did a partial facial allotransplantation in 2006, and report here the 2 year follow-up of the patient. ⋯ Facial transplantation could be successful in the short term, but the procedure was not without complications. However, promising results could mean that this procedure might be an option for long-term restoration of severe facial disfigurement.
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The risk to benefit ratio of face transplantation with a composite tissue allograft remains debatable, although this procedure is technically feasible. We report here a 1-year follow-up of a patient who underwent face transplantation with a composite tissue allograft. ⋯ This case demonstrates the feasibility of surgically removing a large part of the face and replacing it with a composite tissue allograft. This facial repair procedure, which seems to have a satisfactory risk to benefit ratio, could be offered in rare and selected cases.