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Mutations in the gene encoding fibrillin 1 FBN1 cause Marfan syndrome MFS, and related connective tissue disorders. The disease spectrum is wide and while many genotype–phenotype correlations have been reported, few have been consistent. In this study FBN1was analyzed in 113 patients with MFS or Marfanlike features. Fiftythree mutations were identified in 52 individuals, 41 of which were novel. The mutations comprised 26 missense, 11 splice site, 7 frameshift, 6 nonsense, 1 inframe deletion, and 2 whole exon deletions. In common with previous studies, genotype–phenotype analysis showed that a FBN1mutation was more likely to be identified in patients fulfilling Ghent criteria P  0.005 and in those who had ectopia lentis EL P < 0.0001. Other previously reported genotype–phenotype correlations were also considered and a new inverse association between a mutation in exons 59–65, and EL emerged P  0.002. © 2009 WileyLiss, Inc.

We report the successful application of a quantitative composite fingerprinting technique, incorporating both a rigorous statistical verification procedure for composite signatures and a multivariate mixing model, to evaluate sediment source type in the Dart catchment, Devon, UK and the Plynlimon experimental catchment, Powys, UK. Quantitative ascription of source types is discussed in terms of the mean contributions and potential seasonal, inter- and intea-storm variations in the relative contributions of surface erosion from a number of distinct land use categories and of channel erosion to the suspended sediment load sampled at various sites within the study areas. Surface erosion of pasture soils is generally important in both study catchments but the impacts of spring and autumn cultivation in the Dart, and of autumn and winter forestry activity at Plynlimon, are also evident. Inter-storm variations in sediment source type reflect antecedent conditions, variable contributing areas and timing of sediment sample collection, and highlight the individuality of catchment response for the sampled flood events. Intra-storm variations in source type contributions emphasize the necessity for detailed sampling programmes for suspended sediment in storm periods, when using the fingerprinting approach to investigate sediment origin.

Après deux ans de difficultés financières, l'hôpital Kitchener-Waterloo entamait une autre année de sévères restrictions budgétaires. En février 1991, l'hôpital a mis en oeuvre un processus d'examen des programmes pour aligner ses services sur la stratégie à long terme de l'hôpital et les réalités économiques.Les auteurs présentent une étude exhaustive de la littérature traitant des décisions de compression. D'un point de vue pratique, ils illustrent un processus de compression, ses conséquences et les leçons à en tirer pour qu'un exercice d'«optimalisation» puisse être mis en oeuvre afin de minimiser les effets du programme et les réductions d'effectif, tout en mettant l'accent sur les avantages à long terme de la planification stratégique.Bien que la compression soit un processus difficile, l'hôpital Kitchener-Waterloo a réussi à élaborer et mettre en oeuvre un plan qui minimise son incidence sur les services hospitaliers et l'effectif. Sans avoir à mettre en disponibilité un seul employé permanent de l'hôpital, on a réussi à réduire les dépenses de plus de 2 millions de dollars. Grâce à des programmes de rationalisation, on a réussi à réduire les postes de cadres subalternes et éliminer 50 postes équivalents à plein temps au moyen de l'attrition.En définitive, le Conseil d'administration de l'hôpital, la haute direction, le personnel médical et les employés ont estimé qu'on avait pris une décision d'optimalisation qui minimisait les conséquences de la restructuration sur la prestation des services, sur les employés de l'hôpital et la collectivité desservie.

After two years of difficult financial times, the Kitchener-Waterloo Hospital was faced with another upcoming year of tight fiscal constraint. In February 1991, the hospital implemented a program review process to align its services with the hospital's long-term strategy and economic realities.The authors present a thorough review of the literature pertaining to downsizing decisions. From a practical perspective they demonstrate a downsizing process, its implications and lessons to be learned so that a “rightsizing” exercise can be implemented to minimize the effects of the program and staff reductions while focusing on the positive long-term benefits of strategic planning.Although downsizing is a difficult process, the Kitchener-Waterloo Hospital was able to develop and implement a plan that minimized the impact on the hospital services and its staff. A reduction in expenses of over $2 million was achieved without having to lay off any permanent hospital staff. This was achieved by streamlining programs, reducing management supervisory positions and eliminating 50 full-time equivalent positions through attrition.Ultimately, the hospital's board, senior management, medical staff and employees felt that a rightsizing decision had been made, one which minimized the negative impact of restructuring on service delivery, hospital employees and the community served.