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Previous reports in the literature have described correlation of increasing repeat length with severity of the phenotype, in Kennedy syndrome. We describe male siblings with different repeat lengths, with lack of expression of the phenotype in the sibling with the longer repeat length. The phenotype was identical to motor neurone disease. There is variability of expression in Kennedy syndrome and repeat length even in siblings cannot be taken as a conclusive indicator of severity. CAG repeat length cannot be used to predict the natural history of Kennedy disease. The diagnosis of Kennedy syndrome should be considered in male patients presenting with atypical motor neurone disease. 相似文献
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PJ Woll PhD MRCP R Pettengell PhD FRACP 《International journal of clinical practice》1997,51(2):111-115
SUMMARY The interferons are natural glycoproteins secreted in response to various stimuli, including viral infection. They have antiviral, antiproliferative and immunomodulatory effects on different target cell populations. Since recombinant human interferons have become available, they have been tested in a wide range of malignancies. They are well established in the treatment of hairy cell leukaemia, chronic myelogenous leukaemia and multiple myeloma. Although they have documented activity against lymphoma, melanoma, renal cell cancer and carcinoid tumours, their role in the treatment of these tumours is less clear. In the common solid tumours, such as lung cancer and colorectal cancer, the use of interferons remains experimental. Here we will summarise their practice applications in oncology, using randomised studies where available to establish their place in multi-modality treatment. We will not discuss their use as antiviral or immunomodulating agents in viral and autoimmune diseases, multiple sclerosis or after organ transplantation. 相似文献
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Design and real‐time validation of a robust fixed‐order H2 optimal controller for micro aerial vehicle, named Sarika‐2, is presented. Strengthened discrete optimal projection equations, which approximate the first‐order necessary optimality condition, are used for the controller design. Effect of low‐frequency gust disturbance and high‐frequency sensor noise is alleviated through the output sensitivity and control sensitivity minimization. The novelty of this paper is that a single robust H2 controller, which is designed at the central operating point, ensures simultaneous stabilization of the radio‐controlled aircraft over the entire cruise speed range of 16–26 m/s. The controller is implemented on a digital‐signal‐processor‐based flight computer, and subsequently, it is validated through the real‐time hardware‐in‐loop‐simulation. The responses obtained from the hardware‐in‐loop‐simulation compares well with those obtained from the off‐line simulation. Copyright © 2006 John Wiley & Sons, Ltd. 相似文献
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