Summary 1.Wood is increasingly used in restoration projects to improve the hydromorphological and ecological status of streams and rivers. However, despite their growing importance, only a few of these projects are described in the open literature. To aid practitioners, we conducted a postal mail survey to summarize the experiences gained in central Europe and compile data on 50 projects. 2. Our results indicated the potential for improvement from an ecological point of view, as the number and total wood volume, and the median volume of single wood structures placed in the streams per project, were low compared with the potential natural state. Moreover, many wood structures were placed nearly parallel to the water flow, reducing their beneficial effect on stream hydraulics and morphology. Synthesis and applications.Large wood has been used successfully in several projects in central Europe, predominantly to increase the general structural complexity using fixed wood structures. Our results recommend the use of less costly soft engineering techniques (non-fixed wood structures), higher amounts of wood, larger wood structures and improved monitoring programmes for future restoration projects comparable with those in this study. We recommend the use of 'passive restoration' methods (restoring the process of wood recruitment on large scales) rather than 'active restoration' (placement of wood structures on a reach scale), as passive restoration avoids the risk of non-natural amounts or diversity of wood loading developing within streams. Local, active placement of wood structures must be considered as an interim measure until passive restoration methods have increased recruitment sufficiently.

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Foramina parietalia permagna (FPP) is an autosomal dominant condition characterized by cranial defects of the parietal bones. It can be present as an isolated feature, but it is also one of the characteristics of a contiguous gene syndrome associated with deletions on chromosome 11p11-p12. One of the proteins known to be involved in skull development is the MSX2 homeobox protein. Previously, MSX2 has been shown to be mutated in patients suffering from Boston type craniosynostosis. We have now analyzed the MSX2 gene in five families affected with FPP. An intragenic microsatellite marker did not reveal any recombination and a cumulated LOD score of +3.2 at theta = 0 was obtained. Sequence analysis further showed that in four out of five families an MSX2 mutation was responsible for the skull defect. Moreover, it appears that FPP is caused by haplo-insufficiency of the MSX2 gene. This implies that Boston type craniosynostosis and FPP are allelic variants of the same gene, with FPP caused by loss of MSX2 function and craniosynostosis Boston type due to gain of MSX2 function.

Papillon-Lefèvre syndrome is an autosomal recessively inherited palmoplantar keratoderma of unknown aetiology associated with severe periodontitis leading to premature loss of dentition. Three consanguineous families, two of Turkish and one of German origin, and three multiplex families, one of Ethiopian and two of German origin, with 11 affected and 6 unaffected siblings in all were studied. A targeted genome search was initially attempted to several candidate gene regions but failed to demonstrate linkage. Therefore a genome-wide linkage scan using a combination of homozygosity mapping and traditional linkage analysis was undertaken. Linkage was obtained with marker D11S937 with a maximum two-point lod score of Zmax = 6.1 at recombination fraction theta = 0.00 on chromosome 11q14-q21 near the metalloproteinase gene cluster. Multipoint likelihood calculations gave a maximum lod score of 7.35 between D11S901 and D11S1358. A 9.2-cM region homozygous by descent in the affected members of the three consanguineous families lies between markers D11S1989 and D11S4176 harbouring the as yet unknown Papillon-Lefèvre syndrome gene. Haplotype analyses in all the families studied support this localisation. This study has identified a further locus harbouring a gene for palmoplantar keratoderma and one possibly involved in periodontitis.

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