Kidney disease in nail–patella syndrome

Nail–patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although LMX1B is a developmental LIM-homeodomain transcription factor, it is expressed in post-natal life in the glomerular podocyte, suggesting a regulatory role in that cell. Kidney disease in NPS seems to occur more often in some families with NPS, but it does not segregate with any particular mutation type or location. Two patterns of NPS nephropathy may be distinguished. Most affected individuals manifest only an accelerated age-related loss of filtration function in comparison with unaffected individuals. Development of symptomatic kidney failure is rare in this group, and proteinuria (present in approximately one-third) does not appear to be progressive. A small minority (5–10%) of individuals with NPS develop nephrotic-range proteinuria as early as childhood or young adulthood and progress to end-stage kidney failure over variable periods of time. It is proposed that this latter group reflects the effects of more global podocyte dysfunction, possibly due to the combination of a mutation in LMX1B along with an otherwise innocuous polymorphism or mutation involving any of several genes expressed in podocytes (e.g. NPHS2, CD2AP), the transription of which is regulated by LMX1B

Vigeland and the Status of Cultural Concerns in Trade Mark Law – The EFTA Court Develops More Effective Tools for the Preservation of the Public Domain

The Vigeland decision of the EFTA Court is a milestone in the preservation of the public domain of cultural creations. It paves the way for an important and welcome recalibration of the copyright/trade mark interface. The Court departs from the traditional approach which relies on non-distinctiveness, descriptiveness or genericness to reject trade mark rights. Instead., the Court provides exemplary lines of argument for the application of considerations of public policy and principles of morality as grounds for refusal. As a refusal based on these grounds cannot be overcome through use in trade, this rejection of a registration request leads to an outright exclusion from trade mark protection and a robust preservation of a work’s public domain status. National offices and courts should follow in the footsteps of the EFTA Court to avoid that trade mark law provides dysfunctional incentives for the re-privatization of cultural public domain material. In this way, they can also avoid that public money is wasted on the acquisition and maintenance of a costly trade mark portfolio relating to artworks