No abstract

Van Buchem disease (hyperostosis corticalis generalisata; OMIM 239100 [http://www3.ncbi.nlm.nih. gov:80/htbin-post/Omim/dispmim?239100]) is an autosomal recessive disorder characterized by hyperostosis of the skull, mandible, clavicles, ribs, and diaphyseal cortices of the long bones. The most striking clinical features are the enlargement of the jaw and the thickness of the skull, which may lead to facial nerve palsy, hearing loss, and optic atrophy. Increased formation, by osteoblasts, of qualitatively normal bone has been proposed as the underlying pathological mechanism, but the molecular defect is unknown. We studied 11 van Buchem patients and their highly inbred family, who live in The Netherlands in a small ethnic isolate, that had a common ancestor approximately 9 generations ago. A genomewide search with highly polymorphic microsatellite markers showed linkage to marker D17S1299 on chromosome 17q12-21 (maximum LOD score of 8.82 at a recombination fraction [straight theta] of .01). Analysis of additional markers from that region delineated a candidate region of <1 cM, between markers D17S1787 and D17S934. Interestingly, the only marker not showing recombination with the disease locus was an intragenic marker of the thyroid-hormone receptor alpha1 (THRA1) gene, which generated a LOD score of 12.84 at straight theta=.00. Since thyroid hormones are known to stimulate bone resorption, the THRA1 gene might be involved in the etiology and pathogenesis of van Buchem disease. Unraveling the underlying mechanism for this disorder could contribute to the understanding of the regulatory processes conditioning bone density and the underlying pathological processes.

Evolution has met with considerable religious opposition for 150 years and is still controversial among various religious groups. This article tries to understand the evolution controversy by reframing it as a phenomenon of public understanding of science. Three paradigms were used as hypotheses for the rejection of evolution by Dutch Protestant Christians: knowledge deficit, attitude deficit and trust deficit. Ten Dutch Protestants rejecting evolution were interviewed about their views concerning evolution and science. It was found that the main reason for rejecting evolution was an a priori decision to trust the Bible more than science. Any views on science and evolution were based on this decision, so all three hypotheses, which suggest an a posteriori decision, were found to be not sufficient to explain the rejection of evolution, even though both a knowledge deficit and a trust deficit were found for some participants. However, all respondents felt that their a priori decision was supported by scientific facts. All respondents stated that evolution does not meet the criteria for good science and is therefore as unscientific as the belief in creation. Excluding evolution from science allows the respondents to retain their positive attitudes towards science.