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   

    

RB Vogelaar  LW Mitchell  RW Kavanagh  AE Champagne  PV Magnus  MS Smith  AJ Howard  PD Parker  HA O'Brien 《Canadian Metallurgical Quarterly》1996,53(4):1945-1949

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R Lacey  NN Ajitanand  JM Alexander  de Castro Rizzo DM  GF Peaslee  LC Vaz  M Kaplan  M Kildir  La Rana G  DJ Moses  WE Parker  D Logan  MS Zisman  P DeYoung  L Kowalski 《Canadian Metallurgical Quarterly》1988,37(6):2561-2577

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DC Suh  SJ Kim  SM Jung  MS Park  JH Lee  SC Rhim 《Canadian Metallurgical Quarterly》1996,38(1):56-58

20 pairs of sera from the National System of Seroepidemiological Surveillance of the triple viral vaccine received in the laboratory with febrile rash diagnosis were studied. By using the hemagglutination inhibition test, it was observed an abnormal answer of antibodies to both rubella and measles through a falling of the antibody titre in one or both diseases, or in one of them with seroconversion to the other one. With the aim of defining the existence of a possible polyclonal activation already described in literature, it was decided to study the antibody response to family Herpesviridae (HSV, EBV, CMV, VZV). 80% of answer to these viruses were found. The results are submitted and discussed.  相似文献   

    

YW Xie  MS Wolin 《Canadian Metallurgical Quarterly》1996,94(10):2580-2586

BACKGROUND: Nitric oxide (NO); superoxide anion (O2.d-); the reaction product of NO with O2.d-, peroxynitrite (ONOO-); and ischemia/reperfusion have all been reported to inhibit respiration in isolated mitochondria. However, the specific species involved in the inhibition of respiration in intact tissues are poorly understood. METHODS AND RESULTS: O2 consumption in isolated cardiac muscle from bovine calf hearts was quantified by use of a Clark-type electrode. Exogenous and endogenous sources of NO, from S-nitroso-N-acetylpenicillamine (SNAP) and bradykinin or carbachol, reversibly inhibited respiration, whereas the O2.- releasing agent, pyrogallol (PG), inhibited respiration in a manner that was only partially reversed when examined 15 minutes after the removal of PG. The generation of ONOO- with SNAP + PG caused a potentiation of the O2(-)-elicited inhibition of respiration when examined 15 minutes after the removal of the ONOO- generating system. Tiron (a scavenger of O2.-) did not alter the actions of SNAP, but it attenuated the direct inhibitory effects of PG +/- SNAP and essentially eliminated the suppression of respiration observed 15 minutes after removal of the O2.- or ONOO- generating system. Urate (a scavenger of ONOO-) antagonized only the actions of PG + SNAP. After exposure of muscle slices to a model of hypoxia (15 minutes) and reoxygenation (10 minutes), respiratory inhibition was observed. This reoxygenation-induced inhibition was potentiated by L-arginine, the substrate for NO biosynthesis, and was markedly blocked by nitro-L-arginine (an NO synthase inhibitor), Tiron, or urate. CONCLUSIONS: The potentially physiological reversible regulation of respiration in cardiac muscle by NO is converted to an effect that does not show rapid reversibility under conditions in which ONOO- forms, and this could contribute to cardiac dysfunction in situations such as hypoxia/reoxygenation.  相似文献   

    

MS Cune  IP van Rossen  C de Putter  RP Wils 《Canadian Metallurgical Quarterly》1996,7(4):345-353

The development of ovulation-inducing drugs has enabled clinicians to more effectively treat the hypothalamic, pituitary, and ovarian abnormalities resulting in infertility. Pregnancy rates have been improved with the use of agents such as clomiphene citrate (CC), human menopausal gonadotropin [hMG or follicle-stimulating hormone (FSH) preparations], with gonadotropin-releasing hormone (GnRH) and its analogs, stimulating the development of multiple ovarian follicles and increasing the number of fertilizable oocytes. The use of these drugs is not without certain detrimental or \"toxic\" consequences. The negative effects from superovulation can occur during follicle development, decreasing the number of healthy oocytes and embryos capable of leading to viable pregnancy. Ovulation induction can lead not only to higher incidences of spontaneous abortions, and multiple and ectopic pregnancies, but also to poor pregnancy rates, due, in part, to asynchrony between embryonic development and the uterine environment. Diseases such as ovarian hyperstimulation syndrome (OHSS), resulting in the secretion of supraphysiologic levels of estradiol, can lend to severe health complications, possibly requiring hospitalization. Most drugs used for ovulation induction can lead to OHSS. Although incidences of OHSS following CC use are less frequent, CC has been associated with hot flushes, multiple gestations, visual disturbances, cervical mucus abnormalities, and luteal phase deficiency. Finally, there are reports that link any or all of the ovulation-inducing drugs with a higher incidence of ovarian and breast cancer, however, a cause-effect relationship has yet to be proven.  相似文献   

  总被引：1，自引：0，他引：1  

GS Jayatilake  MP Thornton  AC Leonard  JE Grimwade  BJ Baker 《Canadian Metallurgical Quarterly》1996,59(3):293-296

In an ongoing survey of the bioactive potential of microorganisms associated with marine invertebrates, the culture media of a sponge-associated bacterial strain of Pseudomonas aeruginosa was found to contain metabolites which inhibit the growth of several Gram-positive microorganisms. A series of diketopiperazines (1-6) including a new natural product (6) and two known phenazine alkaloid antibiotics (7 and 8) were isolated from the culture broth of this bacterium.  相似文献   

    

JW Clader  DA Burnett  MA Caplen  MS Domalski  S Dugar  W Vaccaro  R Sher  ME Browne  H Zhao  RE Burrier  B Salisbury  HR Davis 《Canadian Metallurgical Quarterly》1996,39(19):3684-3693

A series of azetidinone cholesterol absorption inhibitors related to SCH 48461 ((-)-6) has been prepared, and compounds were evaluated for their ability to inhibit hepatic cholesteryl ester formation in a cholesterol-fed hamster model. Although originally designed as acyl CoA: cholesterol acyltransferase (ACAT) inhibitors, comparison of in vivo potency with in vitro activity in a microsomal ACAT assay indicates no correlation between activity in these two models. The molecular mechanism by which these compounds inhibit cholesterol absorption is unknown. Despite this limitation, examination of the in vivo activity of a range of compounds has revealed clear structure-activity relationships consistent with a well-defined molecular target. The details of these structure-activity relationships and their implications on the nature of the putative pharmacophore are discussed.  相似文献   

    

PM Oppeneer  MS Brooks  VN Antonov  T Kraft  H Eschrig 《Canadian Metallurgical Quarterly》1996,53(16):R10437-R10440

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S.&#x;E. Kooi  L.&#x;A. Baker  P.&#x;E. Sheehan  L.&#x;J. Whitman 《Advanced materials (Deerfield Beach, Fla.)》2004,16(12):1013-1016

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