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81.
A. F. Vanin L. M. Bevers A. Slama-Schwok E. E. van Faassen 《Cellular and molecular life sciences : CMLS》2008,65(24):4066-4069
Announcement
Announcement 相似文献82.
Uppal S Diggle CP Carr IM Fishwick CW Ahmed M Ibrahim GH Helliwell PS Latos-Bieleńska A Phillips SE Markham AF Bennett CP Bonthron DT 《Nature genetics》2008,40(6):789-793
Digital clubbing, recognized by Hippocrates in the fifth century BC, is the outward hallmark of pulmonary hypertrophic osteoarthropathy, a clinical constellation that develops secondary to various acquired diseases, especially intrathoracic neoplasm. The pathogenesis of clubbing and hypertrophic osteoarthropathy has hitherto been poorly understood, but a clinically indistinguishable primary (idiopathic) form of hypertrophic osteoarthropathy (PHO) is recognized. This familial disorder can cause diagnostic confusion, as well as significant disability. By autozygosity methods, we mapped PHO to chromosome 4q33-q34 and identified mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the main enzyme of prostaglandin degradation. Homozygous individuals develop PHO secondary to chronically elevated prostaglandin E(2) levels. Heterozygous relatives also show milder biochemical and clinical manifestations. These findings not only suggest therapies for PHO, but also imply that clubbing secondary to other pathologies may be prostaglandin mediated. Testing for HPGD mutations and biochemical testing for HPGD deficiency in patients with unexplained clubbing might help to obviate extensive searches for occult pathology. 相似文献
83.
Horlings HM Bergamaschi A Nordgard SH Kim YH Han W Noh DY Salari K Joosse SA Reyal F Lingjaerde OC Kristensen VN Børresen-Dale AL Pollack J van de Vijver MJ 《Nature genetics》2008,40(7):809; author reply 810-809; author reply 812
84.
Phytanic acid is a branched-chain fatty acid that accumulates in a variety of metabolic disorders. High levels of phytanic
acid found in patients can exceed the millimolar range and lead to severe symptoms. Degradation of phytanic acid takes place
by α-oxidation inside the peroxisome. A deficiency of its breakdown, leading to elevated levels, can result from either a
general peroxisomal dysfunction or from a defect in one of the enzymes involved in α-oxidation. Research on Refsum disease,
belonging to the latter group of disorders and characterized by a deficiency of the first enzyme of α-oxidation, has extended
our knowledge of phytanic acid metabolism and pathology of the disease greatly over the past few decades. This review will
centre on this research on phytanic acid: its origin, the mechanism by which its α-oxidation takes place, its role in human
disease and the way it is produced from phytol.
Received 4 October 2005; received after revision 24 February 2006; accepted 26 April 2006 相似文献
85.
86.
87.
Horses damp the spring in their step. 总被引:6,自引:0,他引:6
The muscular work of galloping in horses is halved by storing and returning elastic strain energy in spring-like muscle-tendon units.These make the legs act like a child's pogo stick that is tuned to stretch and recoil at 2.5 strides per second. This mechanism is optimized by unique musculoskeletal adaptations: the digital flexor muscles have extremely short fibres and significant passive properties, whereas the tendons are very long and span several joints. Length change occurs by a stretching of the spring-like digital flexor tendons rather than through energetically expensive length changes in the muscle. Despite being apparently redundant for such a mechanism, the muscle fibres in the digital flexors are well developed. Here we show that the mechanical arrangement of the elastic leg permits it to vibrate at a higher frequency of 30-40 Hz that could cause fatigue damage to tendon and bone. Furthermore, we show that the digital flexor muscles have minimal ability to contribute to or regulate significantly the 2.5-Hz cycle of movement, but are ideally arranged to damp these high-frequency oscillations in the limb. 相似文献
88.
Alexander Riegler 《Foundations of Science》2001,6(1-3):1-30
Constructivism is the idea thatwe construct our own world rather than it beingdetermined by an outside reality. Its mostconsistent form, Radical Constructivism (RC),claims that we cannot transcend ourexperiences. Thus it doesn't make sense to saythat our constructions gradually approach thestructure of an external reality. The mind isnecessarily an epistemological solipsist, incontrast to being an ontological solipsist whomaintains that this is all there is, namely asingle mind within which the only world exists.RC recognizes the impossibility of the claimthat the world does not exist. Yet, RC has thepotential to go much further. I claim that RCprovides the foundation of a new world-view inwhich we can overcome hard scientific problems.Thus, the paper is urging us to carry RCfurther, not just on philosophical grounds, butalso into the domain of science. 相似文献
89.
A rapid process of hybridisation of man and technology, organisation and technology and society and technology is currently
sweeping the world. This process requires a way of (scientific) thinking that takes hybrid systems as the starting point.
Such an approach makes it increasingly important for hybrid systems to be interlinked, enabling them to exchange and share
information through these links. This linking of (hybrid) systems to enable them to exchange and share information can also
be denoted as the realisation of interoperability between (hybrid) systems. Five principles from Luhmann’s systems theory
can help us understand interoperability. Interoperability enables (hybrid) systems to join random coalitions and networks.
The network centric warfare concept is currently the basis for international efforts aimed at the development and application
of interoperability that would enable armed forces to act effectively and efficiently. This paper demonstrates what we can
learn from Luhmann’s system’s theory. 相似文献
90.
R E Hill J Favor B L Hogan C C Ton G F Saunders I M Hanson J Prosser T Jordan N D Hastie V van Heyningen 《Nature》1991,354(6354):522-525