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51.
P Bj?rses J Aaltonen A Vikman J Perheentupa G Ben-Zion G Chiumello N Dahl P Heideman JJ Hoorweg-Nijman L Mathivon PE Mullis M Pohl M Ritzen G Romeo MS Shapiro CS Smith J Solyom J Zlotogora L Peltonen 《Canadian Metallurgical Quarterly》1996,59(4):879-886
Autoimmune polyglandular disease type I (APECED) is an autosomal recessive autoimmune disease (MIM 240300) characterized by hypoparathyroidism, primary adrenocortical failure, and chronic mucocutaneous candidiasis. The disease is highly prevalent in two isolated populations, the Finnish population and the Iranian Jewish one. Sporadic cases have been identified in many other countries, including almost all European countries. The APECED locus has previously been assigned to chromosome 21q22.3 by linkage analyses in 14 Finnish families. Locus heterogeneity is a highly relevant question in this disease affecting multiple tissues and with great phenotypic diversity. To solve this matter, we performed linkage and haplotype analyses on APECED families rising from different populations. Six microsatellite markers on the critical chromosomal region of 2.6 cM on 21q22.3 were analyzed. Pairwise linkage analyses revealed significant LOD scores for all these markers, maximum LOD score being 10.23. The obtained haplotype data and the geographic distribution of the great-grandparents of the Finnish APECED patients suggest the presence of one major, relatively old mutation responsible for approximately 90% of the Finnish cases. Similar evidence for one founder mutation was also found in analyses of Iranian Jewish APECED haplotypes. These haplotypes, however, differed totally from the Finnish ones. The linkage analyses in 21 non-Finnish APECED families originating from several European countries provided independent evidence for linkage to the same chromosomal region on 21q22.3 and revealed no evidence for locus heterogeneity. The haplotype analyses of APECED chromosomes suggest that in different populations APECED is due to a spectrum of mutations in a still unknown gene on chromosome 21. 相似文献
52.
RC Coppola G Masia ML di Martino G Carboni E Muggianu R Piro PE Manconi 《Canadian Metallurgical Quarterly》1996,12(5):429-435
We have studied the prevalence and the serological profile of HBV, HCV, HDV and HIV infections in 137 Italian subjects addicted to the intravenous use of heroine and correlated the virological findings with sexual behaviour. HBV and HCV viremia were also measured in 114 patients. Anti-HCV was detected in 81% of the addicts, and one or more markers of HBV infection were detected in 62.8% (4.4% were carriers of HBsAg, 58.4% had evidence of past HBV infection and 13.1% of the latter also had HDV markers). Anti-HIV was positive in 23.4%; 26% of those positive for anti-HCV and 4.6% of those positive for HBV markers had no other viral marker: none had only anti-HIV. HBV-DNA was negative in the carriers of HBsAg, and HCV-RNA was not detected in any of the HBsAg carriers who also had circulating anti-HCV. Overall, 34% of the anti-HCV positive addicts had HCV-RNA in their blood. The prevalence of the virus infection correlated with the duration of drug addiction but not with sexual behaviour, and sexual behaviour did not influence the acquisition of any virus. HCV infection was most frequent and probably the first infection to occur, but exposure to HBV was also common despite a low rate of HBsAg carriage. The prevalence of HDV infection was high (50%) in the HBsAg carriers, while the overall prevalence of HIV was lower (23%) than expected. Lack of HBV-DNA and HCV-RNA in carriers of HBV with anti-HCV in serum may indicate that HBV and HCV mutually inhibit their own replication. 相似文献
53.
Therapeutic drug monitoring (TDM) is practiced for a number of frequently used drugs in infants and children. It is believed that monitoring drug levels will increase the probability of a therapeutic response and minimize the probability of adverse drug sequelae. Dose adjustments are based on measured drug levels interpreted relative to published therapeutic ranges which may or may not reflect the true relationship with either therapeutic or adverse effects. Potential errors derive from many sources, some amenable to solutions based on current knowledge, others awaiting improved understanding of the causes and consequences of unreliable therapeutic ranges. 相似文献
54.
P Mamunes PE Prince NH Thornton PA Hunt ES Hitchcock 《Canadian Metallurgical Quarterly》1976,57(5):675-680
An analysis was made of the obstetric history of 1,360 patients who were delivered in 1971. It involved 3,185 pregnancies. The aim of the study was to evaluate the risk of spontaneous termination of the pregnancy, worked out from its demographic aspect. Several ideas are worthy of consideration. The risk of spontaneous intra-uterine death is cumulative, sharply increased by a repetition of such cessation of pregnancy. The same patients often undergo intentional abortion repeatedly. The respective risks of spontaneous and provoked interruption of pregnancy have been studied in greater detail as a function of parity. 相似文献
55.
Thirty-six cases of premature thelarche in girls 9 months to 7 years old have been studied. In most cases, breast development began before 3 years and came to regression. Onset after 3 years was less common and led usually to breast persistance. Height was lightly but significantly advanced. Plasma levels of estrone, estradiol (in 21 cases) and gonadotropins (FSH and LH, in 12 cases) were not significantly increased. However, LH-RH test (in 12 cases) suggested prolongation and/or increase of the physiologic gonadotropic hyperactivity of normal female infants. 相似文献
56.
57.
PE Goodacre 《International Journal of Project Management》1983,1(1):29-31
The structure and philosophy of a one-year course in construction management are described. Emphasis is placed on the importance of forgetting old methods and ideas, in order to take full advantage of new technologies, and on the need to allow enough time for effective training. 相似文献
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60.
L. J. Kutz PhD PE V. P. Nelson 《The International Journal of Advanced Manufacturing Technology》1991,6(4):317-327
The automated control of manufacturing devices on a common communications network is a necessity for the factory of the future.
The manufacturing automation protocol (MAP) represents a major effort by a group of companies towards meeting this need, and
apparently is becoming a standard for factory-floor communications. In this project, an ASEA 2000 robot was used with a computer-controlled
ply-cutting machine in a simulated factory sheet-metal cell to demonstrate coordinated inter- and intra-cell communications.
Both machines used a MAP network to send and receive information from the cell-controller computer, and to coordinate cell
operation. The methodology, hardware and software required to adapt the ASEA robot to the MAP network are described. This
methodology will be useful in adapting other computer-controlled manufacturing devices to MAP networks. 相似文献