Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome.

The inherited osteolyses or 'vanishing bone' syndromes are a group of rare disorders of unknown etiology characterized by destruction and resorption of affected bones. The multicentric osteolyses are notable for interphalangeal joint erosions that mimic severe juvenile rheumatoid arthritis (OMIMs 166300, 259600, 259610 and 277950). We recently described an autosomal recessive form of multicentric osteolysis with carpal and tarsal resorption, crippling arthritic changes, marked osteoporosis, palmar and plantar subcutaneous nodules and distinctive facies in a number of consanguineous Saudi Arabian families. We localized the disease gene to 16q12-21 by using members of these families for a genome-wide search for homozygous-by-descent microsatellite markers. Haplotype analysis narrowed the critical region to a 1.2-cM region that spans the gene encoding MMP-2 (gelatinase A, collagenase type IV; (ref. 3). We detected no MMP2 enzymatic activity in the serum or fibroblasts of affected family members. We identified two family-specific homoallelic MMP2 mutations: R101H and Y244X. The nonsense mutation effects a deletion of the substrate-binding and catalytic sites and the fibronectin type II-like and hemopexin/TIMP2 binding domains. Based on molecular modeling, the missense mutation disrupts hydrogen bond formation within the highly conserved prodomain adjacent to the catalytic zinc ion.     

对"晨光"体育活动的审度与思考

在总结河南省“晨光”体育活动成功经验的基础上 ,对提高学校体育的水平与质量进行了理论性论证 ,进而提出了“晨光”体育活动应推广与普及的合理化建议及可行性措施 .     

基于对偶基的比特并行算法实现RS编码

以DVB-C系统中的RS编码为例，参照Berlekamp比特串行乘法器，提出了一种基于对偶基的比特并行乘法器的方法来实现RS编码器，可以达到较高的吞吐率，从而可以采用FTGA／CPLD实现高速RS编码。     

大型径向和推力滑动轴承试验台结构设计与应用

对径向滑动轴承、推力滑动轴承试验台以及实验台的结构设计、试验范围、功能和工业产品实验进行了介绍。该试验台在滑动轴承的实验研究中得到了很好的应用。     

The effect of ethanol on the biosynthesis and regulation of opioid peptides

Summary Alcoholism and alcohol abuse are serious health problems. Alcohol is known to influence the activity of a number of biological systems, for example the hormonal and neuronal systems. One of the biological systems whose activity is greatly influenced by alcohol is the endogenous opiate system. Alcohol modifies the function of both opiate receptors and opioid peptides. In fact it has been proposed that many of the effects of ethanol are mediated by its effects on the endogenous opiate system. This review will present results from various laboratories on the effects of acute and chronic ethanol treatments on various species, and on the release, biosynthesis and post-translational processing of the endorphins, enkephalins and dynorphins, the three known families of endogenous opioid peptides. Furthermore, the effect of acute and chronic ethanol consumption on the -endorphin system in man, and the possible implications of the functional activity of the endogenous opiate system for the genetic predisposition to alcoholism will be discussed.     

Methodological foundations of systems methodologies

In social systems science generally, and in management science particularly, recent developments in the variety of types of specific problem-solving methodologies (under the rubric of hard and soft systems approaches) have given an impetus to a line of inquiry, as well as debate on the nature of those methodologies. On the one hand, there has been the view that what we are witnessing is a form of Kuhnian crisis. On the other hand, a complementarist view of developments has been argued and a contingency approach proposed. But one thing has been common among the competing views: a belief that the prospects for further advances in the design and application of those methodologies, and in resolving the current controversies, lie in serious attempts to reconsider and clarify the underlying metatheoretical assumptions and concerns. This paper is an attempt to contribute to such an endeavor. A brief exposition of three methodological foundations (namely, empiricism, hermeneutics, and critique) is made, not only with the purpose of highlighting the nature as well as the limits of their epistemological and ethical claims, but also as a basis for illuminating both the nature of contemporary work on systems inquiry, design, and problem solving and the ongoing debate on what constitutes appropriate criteria for choice of specific methodologies.     

Misuses of biology in the context of the paranormal

Summary Public suspicion of science stems from science's challenging of perceptions and myths about reality, and a public fear of new technology. The result is a susceptibility to pseudoscience. In claiming that creation science is as valid as evolution the creationists misquote scientists and seek to spread their own scientific myths concerning a young age for the earth, an act of creation based on a particular literalist interpretation of the Christian Bible and a single worldwide flood. They use methods of debate and politics, rather than scientific research. A selection of their arguments is examined and the nature of the evidence for evolution is discussed. Problems with the creation science model are noted. In the myth of the hundredth monkey phenomenon, original research is misquoted to denigrate scientific research and support sentimental ideas of paranormal events. The misuse of science is seen as damaging to society because it reduces the effective gathering and application of scientific information. However, pseudoscience provides a valuable guide to gaps in public scientific education.     

Lack of effect of dihydroergotamine on endothelial and smooth muscle cell proliferation and endothelial cell prostanoid production

Summary The most important effect of dihydroergotamine is venoconstriction, but certain metabolic effects and changes in vessel prostanoid activity have also been suggested. In this study endothelial cell production of 6-keto PGF₁ and TxB₂ was quantitated in vitro. No evidence of altered prostanoid production was noted after incubation with dihydroergotamine (exposure ranging from 5×10^–3 to 5×10^–7 g/l). Similarly, no effect of dihydroergotamine on the growth rates of endothelial cells or smooth muscle cells in vitro was documented.     

Goniothalamicin and annonacin: Bioactive acetogenins fromGoniothalamus giganteus (Annonaceae)

Summary Using brine shrimp lethality for activity-directed fractionation, goniothalamicin (I), a new tetrahydroxy-mono-tetrahydrofuran fatty acid -lactone (acetogenin), has been isolated from ethanolic extracts of the stem bark ofGoniothalamus giganteus Hook. f., Thomas (Annonaceae). This novel compound was found to be cytotoxic and insecticidal and inhibited the formation of crown gall tumors on potato discs. Annonacin (II), the only other reported mono-tetrahydrofuran acetogenin, was also isolated; the previously reported 9ASK (astrocytoma reversal) activity ofII was confirmed, andII is now also found to be weakly active against 3PS murine leukemia.     

冠状动脉粥样硬化病变中微量元素的X射线显微分析

本文应用EDAX-9100能谱仪,对家兔冠状动脉粥样硬化病变部位的微量元素进行显微分析,发现Zn/Cu比值大于1,提供了冠心病病因中“Zn/Cu假说”的实验论证。