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- Scherer, SW, et al.
(författare)
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Human chromosome 7: DNA sequence and biology
- 2003
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Ingår i: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 300:5620, s. 767-772
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Tidskriftsartikel (refereegranskat)abstract
- DNA sequence and annotation of the entire human chromosome 7, encompassing nearly 158 million nucleotides of DNA and 1917 gene structures, are presented. To generate a higher order description, additional structural features such as imprinted genes, fragile sites, and segmental duplications were integrated at the level of the DNA sequence with medical genetic data, including 440 chromosome rearrangement breakpoints associated with disease. This approach enabled the discovery of candidate genes for developmental diseases including autism.
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- Hjelm, AM, et al.
(författare)
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Changes of the uterine proteoglycan distribution at term pregnancy and during labour
- 2002
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Ingår i: European Journal of Obstetrics, Gynecology, and Reproductive Biology. - 0301-2115. ; 100:2, s. 146-151
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To characterise uterine proteoglycans and changes therein during pregnancy and labour. Study Design: Uterine samples were collected from 6 non-pregnant, 10 term-pregnant and from 10 women in active tabour. The proteoglycans were extracted by 4 M guanidine hydrochloride and precipitated with Alcian Blue. They were separated by electrophoresis and identified by Western blotting. Results: Decorin was the dominating proteoalycan and smaller amounts of biglycan was found. A considerable amount of heparan sulphate proteoglycans wag also detected. Decorin and biglycan decreased by 40% until term. The amount of heparan sulphate proteoglycans increased by 46% during active labour. Conclusion: Our data indicate that a considerable remodelling of the uterine connective tissue occurs during pregnancy and labour. The decrease of decorin and biglycan and the increase of heparan sulphate proteoglycans may be important for normal myometrial contractions during tabour. (C) 2002 Elsevier Science Ireland Ltd. All rights reserved.
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- Ohlson, Kerstin, et al.
(författare)
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Inhibitory effects of halothane on the thermogenic pathway in brown adipocytes: localization to adenylyl cyclase and mitochondrial fatty acid oxidation
- 2004
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Ingår i: Biochemical Pharmacology. - : Elsevier BV. - 0006-2952. ; 68:3, s. 463-477
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Tidskriftsartikel (refereegranskat)abstract
- Volatile anesthetics such as halothane efficiently inhibit nonshivering thermogenesis as well as the cellular manifestation of that phenomenon: norepinephrine-induced respiration in brown adipocytes. To identify the molecular site(s) of action of such anesthetics, we have examined the effect of halothane on the sequential intracellular steps from the interaction of norepinephrine with isolated brown adipocytes to the stimulation of mitochondrial respiration (=thermogenesis). We did not identify an inhibition at the level of the adrenergic receptors, but a first site of inhibition was identified as the generation of cAMP by adenylyl cyclase; this led to inhibition of norepinephrine-induced expression of the uncoupling protein-1 (UCP 1) gene and reduced norepinephrine-induced lipolysis as secondary effects. Although an inhibition of lipolysis in itself would inhibit thermogenesis, circumvention of this inhibition revealed that a second, postlipolytic, site of inhibition existed: halothane also inhibited the stimulatory effect of exogenous fatty acids on cellular respiration. This inhibition was independent of the presence of UCP1 in the mitochondria of the cells and was thus not directly on the thermogenic uncoupling mechanism. Since not only fatty acid oxidation but also pyruvate oxidation were inhibited by halothane in isolated mitochondria, whereas glycerol-3-phosphate oxidation was not, the second site of action of halothane, evident when cyclase/lipolytic inhibition was circumvented, was located to the respiratory chain, complex I. The results thus explain the inhibition of nonshivering thermogenesis by identifying two sites of action of halothane in brown adipocytes. In addition, the results may open for new formulations of the molecular background to anesthesia. (C) 2004 Elsevier Inc. All rights reserved.
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- Wurst, FM, et al.
(författare)
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Ethyl glucuronide discloses recent covert alcohol use not detected by standard testing in forensic psychiatric inpatients
- 2003
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Ingår i: Alcoholism: Clinical and Experimental Research. - 0145-6008. ; 27:3, s. 471-476
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Tidskriftsartikel (refereegranskat)abstract
- Background: Considerable lives and money could be saved if one could detect early stages of lapsing/ relapsing behavior in addicted persons (e.g., in safety-sensitive workplaces) and could disclose harmful drinking in social drinkers. Due to the serious public health problem of alcohol use and abuse worldwide, markers of alcohol use have been sought. Both ethyl glucuronide (EtG) and phosphatidyl ethanol (PEth) appear to have high sensitivity and specificity and a time frame of detection that may elucidate alcohol use not detected by standard testing. Our aim was to assess their potential for detecting recent covert alcohol use under controlled conditions. Methods: Thirty-five forensic psychiatric inpatients in a closed ward who had committed a substance-related offense (xi64 StGB), were followed for 12 months. The complete time spectrum of possible alcohol consumption was covered by the complementary use of breath and urinary ethanol (hours), urinary EtG (days), %carbohydrate-deficient transferrin (CDT)/PEth (weeks), and gamma-glutamyltranspeptidase (GGT)/ mean corpuscular volume (MCV) (weeks-mouths). Results: Fourteen of the 146 urine samples examined were positive for EtG. In all EtG-positive cases, patients reported alcohol consumption of between 40 and 200 g of ethanol 12-60 hr prior to testing. Urinary and breath ethanol were positive in only one case. In the blood samples, PEth was not positive in any case and %CDT did not exceed the reference value. Isoelectric focusing showed no abnormal Tf subtypes. Conclusions: The findings emphasize the diagnostic and therapeutic usefulness, specificity, and sensitivity of EtG as a marker of recent alcohol use. Such a test is needed in numerous settings, including alcohol and drug treatment (to detect lapse/relapse), in safety-sensitive work settings where use is dangerous or in other settings where use may be inappropriate (e.g., such as driving, workplace, pregnancy, or monitoring physicians or other professionals who are in recovery and working), or for testing other groups (such as children or those with medical problems) where alcohol use would be unhealthy or unsafe. The health, social and socioeconomic benefits arising from the future use of these markers is hard to overestimate.
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