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Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis 总被引:1,自引:0,他引:1 下载免费PDF全文
C W Lam K Jain K Y Chan D K Silva Y W Chan L J C Wong 《Journal of clinical pathology》1995,48(5):M285-M288
The clinical presentation and the biochemical and molecular genetic findings are described in a 13 year old Chinese boy with MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The diagnosis was initially suspected because of the characteristic clinical features and the strong family history of convulsions. Using polymerase chain reaction—restriction enzyme analysis, the heteroplasmic nt3243 A→G mutation in mtDNA of peripheral blood leucocytes and a muscle sample was demonstrated. The oligosymptomatic relatives were then screened by this method and the degree of heteroplasmy was analysed. This appears to be the first report of a MELAS family in Hong Kong with this described mutation. Molecular genetic techniques are advantageous in the diagnosis of MELAS. 相似文献
104.
W W Wong W J Cochran W J Klish E O Smith L S Lee M L Fiorotto P D Klein 《European journal of clinical nutrition》1988,42(3):233-242
We estimated body fat in 20 normal adults (10 males and 10 females) from 18O- and 2H-dilution spaces and from the equations of Durnin & Womersley and Pollock, Schmidt & Jackson based on skinfold thickness measurements. Differences between methods for body fat estimation were found to be sex-dependent: subsequent analyses indicated significant differences between methods within each sex. Regardless of sex, the highest fat estimates were obtained with the 18O-dilution method, followed by those obtained with the 2H-dilution method or the Durnin & Womersley equation. The lowest fat estimates were obtained using the Pollock, Schmidt & Jackson equation. The 18O-dilution method and the Durnin & Wormersley anthropometric method are both suitable and appropriate for body fat estimation in adults studied under field conditions. 相似文献
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A. Robert Spitzer Shalom Stahl David Yarnitsky Ernest W. Johnson John R. Wilson R. A. C. Hughes Stefania Morino Giovanni Antonini Kiyotoshi Kaneko Yoji Ohnishi Tetsushi Atsumi Isao Hozumi Tadashi Miyatake Tetsuo Furukawa James P. Knochel Ikuo Mineo Seiichiro Tarui Francis O. Walker Andrew J. Gitter Walter C. Stolov Nicholas J. Capozzoli 《Muscle & nerve》1996,19(4):531-538
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K. Hamano Hiroshi Ito Andrew Bushell Kathryn J. Wood Kensuke Esato 《Transplant international》1997,10(4):293-298
In this study, the effect of combining anti-CD4 monoclonal antibody (mAb) and cyclosporin (CyA) therapy at the time of transplantation
was examined. A mouse cardiac allograft model was used. Anti-CD4 mAb administered perioperatively induces long-term survival.
The addition of a short course of CyA given subcutaneously in a regimen of either a high-dose treatment or a standard dose
treatment to the anti-CD4 mAb treatment protocol did not have a detrimental effect on graft survival. Despite having no significant
effect on graft survival, the addition of CyA to the treatment protocol did result in a significant decrease in the level
of IL-2 present in the hearts 7 days after transplantation. The decrease in IL-2 production was directly related to the presence
of CyA in vivo. When CyA treatment was continued throughout the period during which unresponsiveness to the graft is induced
by anti-CD4 mAb therapy, 50 % of the grafted hearts were rejected once the CyA was discontinued. In conclusion, the combined
use of anti-CD4 mAb therapy and CyA did not have a negative effect on graft survival in this model when the two agents were
used concurrently at the time of transplantation.
Received: 2 October 1996 Received after revision: 31 January 1997 Accepted: 5 February 1997 相似文献
109.
The doubly labelled water method was used to estimate energy expenditure in 20 formula-fed infants (10 aged 1 month and 10 aged 4 months). We then compared the energy expenditure values with energy balance values calculated from energy intake and energy cost of growth. Our purpose was to compare various published equations for calculating CO2 expiration rates (and thus energy expenditure values) from the isotopic data. Those equations in which we used measured values for 18O and 2H isotope dilution spaces and estimated or measured values for insensible water losses yielded energy expenditure values (69.7 +/- 8.4 kcal/kg/d) that agreed most closely with energy balance data (70.3 +/- 11.9 kcal/kg/d). Equations in which we used a constant ratio of 1.03 between the 2H and 18O isotope dilution spaces resulted in energy expenditure values (66.3 +/- 10.2 kcal/kg/d) lower than those predicted by the energy balance data. Data analysis by nonlinear curve fitting compared to logarithmic transformation did not alter the estimates of energy expenditure obtained in these infants. 相似文献
110.