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11.
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
12.
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
13.
Jane McCusker MD Dr PH Elizabeth Healey MEd François Bellavance PhD Brian Connolly MD 《Academic emergency medicine》1997,4(6):581-588
Objective: To determine which characteristics of older patients who use a hospital ED are associated with repeat visits during the 90 days following the index visit.
Methods: The study was conducted in the ED of a 400-bed university-affiliated acute care community hospital in Montreal. Patients aged ≥75 years who visited the ED between 08:00 and and 16:00 on a convenience sample of days over an 8-week period (July and August 1994) were assessed using a questionnaire, physical and cognitive status instruments, and a functional problem checklist. The hospital's administrative database was used to identify repeat visits during the 90 days following the ED visit. The representativeness of the sample was assessed by analyses of ED visits made by 4,466 persons aged ≥65 years during a 12-month period (September 1993 to August 1994) using the hospital's administrative database.
Results: 256 patients aged ≥75 years visited the ED during the study period and 167 were assessed. Of these, 54 (32%) were admitted to the hospital. Among the 113 patients released from the ED, 27 (24%) made repeat visits during the next 90 days. In univariate analyses, repeat visits were significantly associated with the number of functional problems, cognitive impairment, and previous ED visits. In multiple logistic regression, male gender, living alone, and number of functional problems were independent predictors of repeat visits. In the administrative data analyses, nighttime arrival to the ED for the index visit was significantly associated with repeat visits.
Conclusions: Self-reported risk factors can help to identify a group of elders likely to make repeated ED visits; the development of a screening instrument incorporating questions on these problems and implementation of appropriate interventions might improve these patients' quality of life and reduce the demand for further ED care in this age group. 相似文献
Methods: The study was conducted in the ED of a 400-bed university-affiliated acute care community hospital in Montreal. Patients aged ≥75 years who visited the ED between 08:00 and and 16:00 on a convenience sample of days over an 8-week period (July and August 1994) were assessed using a questionnaire, physical and cognitive status instruments, and a functional problem checklist. The hospital's administrative database was used to identify repeat visits during the 90 days following the ED visit. The representativeness of the sample was assessed by analyses of ED visits made by 4,466 persons aged ≥65 years during a 12-month period (September 1993 to August 1994) using the hospital's administrative database.
Results: 256 patients aged ≥75 years visited the ED during the study period and 167 were assessed. Of these, 54 (32%) were admitted to the hospital. Among the 113 patients released from the ED, 27 (24%) made repeat visits during the next 90 days. In univariate analyses, repeat visits were significantly associated with the number of functional problems, cognitive impairment, and previous ED visits. In multiple logistic regression, male gender, living alone, and number of functional problems were independent predictors of repeat visits. In the administrative data analyses, nighttime arrival to the ED for the index visit was significantly associated with repeat visits.
Conclusions: Self-reported risk factors can help to identify a group of elders likely to make repeated ED visits; the development of a screening instrument incorporating questions on these problems and implementation of appropriate interventions might improve these patients' quality of life and reduce the demand for further ED care in this age group. 相似文献
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Uroscopy in the 21st century: high-field NMR spectroscopy 总被引:1,自引:1,他引:0
Neild GH; Foxall PJ; Lindon JC; Holmes EC; Nicholson JK 《Nephrology, dialysis, transplantation》1997,12(3):404-417
From the experiments described, it can be seen that there are different
research approaches that can be taken and these are summarized in Table 1.
Whereas much scientific research is principally hypothesis led, there
remains, nevertheless, an important place for exploratory research. High
resolution NMR can measure, directly and simultaneously, a wide range of
endogenous metabolites in biological fluids and has the unique capability
of providing structural information on the metabolites detected. It has
proved to be a powerful research tool with which to study inherited
metabolic diseases, renal disease, drug metabolism, and toxicity, and can
be used to monitor the effects of drug therapy. For instance, by using a
library of experimental toxins one can map the metabolic profile of
site-specific nephron injury. With this approach in man one could
eventually take an unknown disease such as Balkan nephropathy and predict
the initial site of tubular injury, the mode of injury and therefore the
kind of toxin capable of producing that injury. NMR spectroscopic
techniques are still advancing rapidly, with ever increasing sensitivity
and sophistication of NMR pulse sequences to enhance structural elucidation
in complex mixtures. Given the advances in directly coupled HPLC-NMR and
even HPLC-NMR-mass spectroscopy it is likely that these technologies in
conjunction with pattern recognition will make major contribution to our
understanding of renal processes and provide new diagnostic insights in the
21st century.
相似文献
19.
Leukotriene B4 (LTB4) and the protein kinase C activator, 4-beta-phorbol dibutyrate (PDBu), both induced a pronounced and concentration-dependent stimulation of hydrogen peroxide (H2O2) generation by purified guinea pig peritoneal eosinophils in the concentration range 1 nM-1 microM. The LTB4 response was inhibited competitively by the specific LTB4 receptor antagonist, U-75302, with a KB of 25 nM, while the concentration-response curves for both stimuli were shifted rightwards (3.8-fold and 2.8-fold for LTB4 and PDBu, respectively) by the competitive protein kinase C inhibitor, 1-O-hexadecyl-2-O-methylglycerol at a concentration of 300 microM. LTB4 appears, therefore, to induce respiratory burst in eosinophils via a receptor-mediated mechanism involving protein kinase C. 相似文献
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