Comparative genetic analysis: the utility of mouse genetic systems for studying human monogenic disease

One of the long-term goals of mutagenesis programs in the mouse has been to generate mutant lines to facilitate the functional study of every mammalian gene. With a combination of complementary genetic approaches and advances in technology, this aim is slowly becoming a reality. One of the most important features of this strategy is the ability to identify and compare a number of mutations in the same gene, an allelic series. With the advent of gene-driven screening of mutant archives, the search for a specific series of interest is now a practical option. This review focuses on the analysis of multiple mutations from chemical mutagenesis projects in a wide variety of genes and the valuable functional information that has been obtained from these studies. Although gene knockouts and transgenics will continue to be an important resource to ascertain gene function, with a significant proportion of human diseases caused by point mutations, identifying an allelic series is becoming an equally efficient route to generating clinically relevant and functionally important mouse models

Patellofemoral arthroplasty: a multi-centre study with minimum 2-year follow-up

Recently, patellofemoral arthroplasty has attracted increased interest as a salvage treatment for isolated patellofemoral arthritis. However, there are very few reports of the experience with modern generation patellofemoral arthroplasties. This investigation describes a collective experience of four centres reporting on the outcome in patients of the use of one patellofemoral arthroplasty device. There were 70 patients (79 knees) who had failed an extensive non-operative treatment regimen and/or various conventional alternative surgical treatments. At a mean follow-up of three years (range: 2–6 years), there were 66 knees that had Knee Society Scores greater than 80 points (84%). Seventy-one knees (90%) functioned without pain in daily activity and stair climbing. Symptomatic isolated patellofemoral arthritis was successfully treated with a patellofemoral arthroplasty in the short term. We are encouraged by these excellent early results and await longer follow-up