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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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Paul P. Dillon Stephen J. Daly John G. Browne Bernadette M. Manning Elma Loomans Aart Van Amerongen Richard O'Kennedy 《Food and Agricultural Immunology》2003,15(3):225-234
Public concern surrounding antibiotic contamination in food and food products has made it imperative to develop analytical methods for their detection. Polyclonal antibodies were used in the development of a surface plasmon resonance (SPR)-based inhibition immunoassay for cephalexin. A conjugate consisting of cephalexin-bovine serum albumin (BSA) was immobilized on the dextran gel surface of the sensor chip. Binding/regeneration studies of antibody to immobilized cephalexin were studied and dissociation of the antibody from the immobilized cephalexin was easily achieved with 10 mmol l-1 NaOH. Forty surface regeneration cycles were carried out and found to be reproducible with only a 7.4% decrease in binding over this number of regenerations. Model inhibition immunoassays for cephalexin were developed in PBS and spiked milk samples with detection ranges of 4.88 to 2,500 ng ml-1 and 244 to 3,906 pg ml-1, respectively. 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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F J Beek M S van Leeuwen N M Bax E H Dillon T D Witkamp A P van Gils 《AJNR. American journal of neuroradiology》1994,15(3):445
PURPOSETo determine whether the lumbosacral junction of the vertebral column can be identified with sonography in newborns and infants and thus serve as a method for counting the lumbar and sacral vertebral bodies.METHODSIn 32 newborns and infants, the number of ossified vertebral bodies distal to the lumbosacral junction was counted with sonography and radiography.RESULTSSonographic and radiographic findings agreed in 29 of 32 examinations (91%).CONCLUSIONSThe lordotic transition at the lumbosacral junction can be identified with sonography in the majority of newborns and infants, allowing intraspinal structures to be related to a specific vertebral level. 相似文献
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The neck 总被引:1,自引:0,他引:1
This article describes the clinical and imaging roles of MR with respect to the following: neck masses of known or uncertain etiology; staging of cervical metastatic disease; thyroid and parathyroid; and evaluation of the thoracic inlet. Pertinent normal anatomy is highlighted when appropriate. 相似文献