Prevalence of variations in melanoma susceptibility genes among Slovenian melanoma families

<p>Abstract</p> <p>Background</p> <p>Two high-risk genes have been implicated in the development of CM (cutaneous melanoma). Germline mutations of the CDKN2A gene are found in < 25% of melanoma-prone families and there are only seven families with mutation of the <it>CDK4 </it>gene reported to date. Beside those high penetrance genes, certain allelic variants of the <it>MC1R </it>gene modify the risk of developing the disease.</p> <p>The aims of our study were: to determine the prevalence of germline <it>CDKN2A </it>mutations and variants in members of families with familial CM and in patients with multiple primary CM; to search for possible <it>CDK4 </it>mutations, and to determine the frequency of variations in the <it>MC1R </it>gene.</p> <p>Methods</p> <p>From January 2001 until January 2007, 64 individuals were included in the study. The group included 28 patients and 7 healthy relatives belonging to 25 families, 26 patients with multiple primary tumors and 3 children with CM. Additionally 54 healthy individuals were included as a control group. Mutations and variants of the melanoma susceptibility genes were identified by direct sequencing.</p> <p>Results</p> <p>Seven families with CDKN2A mutations were discovered (7/25 or 28.0%). The L94Q mutation found in one family had not been previously reported in other populations. The D84N variant, with possible biological impact, was discovered in the case of patient without family history but with multiple primary CM. Only one mutation carrier was found in the control group. Further analysis revealed that c.540C>T heterozygous carriers were more common in the group of CM patients and their healthy relatives (11/64 vs. 2/54). One p14ARF variant was discovered in the control group and no mutations of the <it>CDK4 </it>gene were found.</p> <p>Most frequently found variants of the <it>MC1R </it>gene were T314T, V60L, V92M, R151C, R160W and R163Q with frequencies slightly higher in the group of patients and their relatives than in the group of controls, but the difference was statistically insignificant.</p> <p>Conclusion</p> <p>The present study has shown high prevalence of p16INK4A mutations in Slovenian population of familial melanoma patients (37%) and an absence of p14ARF or <it>CDK4 </it>mutations.</p

Does conventional kiln drying of timber have a preventive effect against the house longhorn beetle (Hylotrupes bajulus)?

Observations of Hylotrupes bajulus in kiln-dried timber are very rare. In Germany, this has often been attributed to a preventive effect of the drying process. Commonly assumed explanations for a preventive effect are the loss of substances that attract the insects and the decline in nutrients caused by kiln drying. A review of the literature has been undertaken and these explanations are not well supported. Seemingly, the main direct effect of kiln drying at temperatures below 100°C is the killing of all larvae present in the timber before drying. Some indirect effects may also contribute to the reduced risk of infestations in kiln-dried timber, namely kiln-dried timber is often free of wane and therefore free of outer sapwood; it shows a low number of cracks and has a planed surface. Especially the absence of wane may contribute to the scarcity of Hylotrupes in kiln-dried timber

Mass-loss and equilibrium-moisture-content of 10 wood species during long-term storage at 140°C

During 1-year storage at 140°C, 10 tested wood species lost an average of 37% of their initial mass. With the exception of abachi and thermally modified pine, the average equilibrium-moisture-content of the 10 wood species decreased from initial 11.6 to 6.2% after 180 days, followed by an increase to 7.9%after 1 year