A 1300-year multi-proxy, high-resolution record from a rich fen in northern Poland:Reconstructing hydrology, land use and climate change

Here we present the first high-resolution multi-proxy analysis of a rich fen in the central-eastern European lowlands. The fen is located in the young glacial landscape of the Sta{ogonek}zki river valley. We investigated the fen's development pathways, asking three main questions: (i) what was the pattern and timing of the peatland's vegetation succession, (ii) how did land use and climate affect the succession in the fen ecosystem, and (iii) to what degree does the reconstructed hydrology for this site correlate with those of other sites in the region in terms of past climate change? Several stages of fen history were determined, beginning with the lake-to-fen transition ca. AD 700. Brown mosses dominated the sampling site from this period to the present. No human impact was found to have occurred until ca. AD 1700, when the first forest cutting began. Around AD 1890 a more significant disturbance took place-this date marks the clear cutting of forests and dramatic landscape openness. Deforestation changed the hydrology and chemistry of the mire, which was revealed by a shift in local plant and testate amoebae communities. We also compared a potential climatic signal recorded in the peat profile before AD 1700 with other sites from the region. © 2013 John Wiley & Sons, Ltd.

The role of cathepsin C in Papillon-Lefèvre syndrome, prepubertal periodontitis, and aggressive periodontitis

We have previously reported that loss-of-function mutations in the cathepsin C gene (CTSC) result in Papillon Lefevre syndrome, an autosomal recessive condition characterized by palmoplantar keratosis and early,onset, severe periodontitis. Others have also reported CTSC mutations in patients with severe prepubertal periodontitis, but without any skin manifestations. The possible role of CTSC variants in more common types of non-mendelian, early-onset, severe periodontitis ("aggressive periodontitis") has not been investigated. In this study, we have investigated the role of CTSC in all three conditions. We demonstrate that PLS is genetically homogeneous and the mutation spectrum that includes three novel mutations (c.386T>A/p. V129E, c.935A>G/p.Q312R, and c.1235A>G/p.Y412C) in 21 PLS families (including eight from our previous study) provides an insight into structure-function relationships of CTSC. Our data also suggest that a complete loss-of-function appears to be necessary for the manifestation of the phenotype, making it unlikely that weak CTSC mutations are a cause of aggressive periodontitis. This was confirmed by analyses of the CTSC activity in 30 subjects with aggressive periodontitis and age-sex matched controls, which demonstrated that there was no significant difference between these two groups (1,728.7 +/- SD 576.8 mu moles/mg/min vs. 1,678.7 +/- SD 527.2 mu moles/mg/min, respectively, p = 0.73). CTSC mutations were detected in only one of two families with prepubertal periodontitis; these did not form a separate functional class with respect to those observed in classical PLS. The affected individuals in the other prepubertal periodontitis family not only lacked CTSC mutations, but in addition did not share the haplotypes at the CTSC locus. These data suggest that prepubertal periodontitis is a genetically heterogeneous disease that, in some families, just represents a partially penetrant PLS. (C) 2004 Wiley-Liss, Inc.