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- Hagleitner, M M, et al.
(författare)
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
- 2008
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Ingår i: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 93-9
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome) is a rare autosomal recessive disease characterised by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after PHA stimulation of lymphocytes. Hypomethylation of DNA of a small fraction of the genome is an unusual feature of ICF patients which is explained by mutations in the DNA methyltransferase gene DNMT3B in some, but not all, ICF patients. OBJECTIVE: To obtain a comprehensive description of the clinical features of this syndrome as well as genotype-phenotype correlations in ICF patients. METHODS: Data on ICF patients were obtained by literature search and additional information by means of questionnaires to corresponding authors. Results and CONCLUSIONS: 45 patients all with proven centromeric instability were included in this study. Facial dysmorphism was found to be a common characteristic (n = 41/42), especially epicanthic folds, hypertelorism, flat nasal bridge and low set ears. Hypo- or agammaglobulinaemia was demonstrated in nearly all patients (n = 39/44). Opportunistic infections were seen in several patients, pointing to a T cell dysfunction. Haematological malignancy was documented in two patients. Life expectancy of ICF patients is poor, especially those with severe infections in infancy or chronic gastrointestinal problems and failure to thrive. Early diagnosis of ICF is important since early introduction of immunoglobulin supplementation can improve the course of the disease. Allogeneic stem cell transplantation should be considered as a therapeutic option in patients with severe infections or failure to thrive. Only 19 of 34 patients showed mutations in DNMT3B, suggesting genetic heterogeneity. No genotype-phenotype correlation was found between patients with and without DNMT3B mutations.
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| 7. |
- Fardim, P, et al.
(författare)
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Critical comparison of methods for surface coverage by extractives and lignin in pulps by X-ray photoelectron spectroscopy (XPS)
- 2006
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Ingår i: Holzforschung. - 0018-3830 .- 1437-434X. ; 60, s. 149-155
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Tidskriftsartikel (refereegranskat)abstract
- Different methods for estimation of the surface coverage by extractives and lignin were critically compared. For data collection, four state-of-the-art X-ray photoelectron spectroscopy (XPS) instruments located in four different laboratories were used. Hand sheets of one mechanical and two chemical pulp samples were prepared in one laboratory and distributed among the other participants. The XPS results based on O/C ratios and curve fitting of the C 1s peak had very good intra- and interlaboratory variation for extracted and non-extracted pulp samples. The estimations of surface coverage by extractives and lignin also had acceptable intra- and interlaboratory variation. However, significant differences were observed between the results for the various methods. Estimation of surface coverage by extractives based on O/C ratios was much higher than that based on the C1 component analysis in the case of mechanical and unbleached chemical pulp. The surface coverage by lignin of mechanical pulp was reproducibly detected based on O/C ratios, C1 component analysis and by labelling with mercury acetate. The same data were, however, rather scattered if they were collected with these three methods for bleached and unbleached chemical pulp. In spite of the differences, similar trends regarding the pulp type could be observed. We interpret the results as indicating that the surface coverage for both extractives and lignin should not be considered as absolute “true” values, but rather as relative values, which are reliable only for comparison of samples for the same instrument. Even for relative comparisons, we recommend the selection of a strict experimental set-up for spectral acquisition and data treatment when applying any of the instruments and calculation models currently available.
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| 8. |
- Hartford, Marianne, 1944, et al.
(författare)
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CRP, interleukin-6, secretory phospholipase A(2) group IIA, and intercellular adhesion molecule-1 during the early phase of acute coronary syndromes and long-term follow-up
- 2006
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Ingår i: Int J Cardiol. - : Elsevier Ireland Ltd. ; 108:1, s. 55-62
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES: The objectives of this study were to examine the time course of the inflammatory response in acute coronary syndromes (ACS) and to assess the markers of inflammation and their relation to disease severity. METHODS: We prospectively studied 134 patients with ACS who survived for at least 30 months. The patients were divided into four groups: acute myocardial infarction (MI) with (n=54) or without (n=46) ST-segment elevation and unstable angina with (n=14) or without (n=20) increased risk. Plasma levels of C-reactive protein (CRP), interleukin-6 (IL-6), secretory phospholipase A(2) group IIA (sPLA(2)-IIA), and intercellular adhesion molecule-1 (ICAM-1) were measured on days 1 and 4 and after 3 and 30 months. RESULTS: The highest levels of CRP and sPLA(2)-IIA were seen on day 4 but for IL-6 on day 1. These three markers, but not ICAM-1, were significantly related to disease severity, CKMB, and ejection fraction. Patients in Killip class II-IV had higher levels than those in Killip class I. The individual acute-phase responses correlated with marker levels at 3 and 30 months. ICAM-1 correlated with the development of congestive heart failure. CONCLUSIONS: In ACS there seems to be an individual predisposition to inflammatory response. Plasma IL-6 is the first marker to rise, while sPLA(2)-IIA and CRP peak later. All three markers, especially CRP, may discriminate between MI and non-MI. ICAM-1 seems to reflect other aspects of the inflammatory processes than the other markers. The results emphasize the complexity of the inflammatory response in ACS and stress the need for further studies involving multiple markers.
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| 9. |
- Heijnesson Hultén, A, et al.
(författare)
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Comparison of different XPS methods for fiber surface analysis
- 2006
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Ingår i: Holzforschung. - 0018-3830 .- 1437-434X. ; 60:1, s. 14-19
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Tidskriftsartikel (refereegranskat)abstract
- Three different XPS methods based on the O/C atomic ratio, C1 carbon content, and Hg amount are compared in this study to quantify the surface coverage of various pulp fiber surfaces by lignin and extractives. The sensitivity of the methods to drying technique and the stability of organically bound mercury when subjected to X-ray irradiation were also investigated. Results reveal that the surfaces of all pulp fibers have a higher content of lignin and extractives than the bulk of the fibers. Similar lignin surface coverage was obtained for thermomechanical pulp fibers using the Hg, O/C, and C1 carbon methods, while the Hg method gave lower values for kraft pulp fibers than the O/C and C1 carbon methods. The O/C and C1 carbon methods are sensitive to the drying technique, i.e., air-dried samples showed a higher amount of lignin on the fiber surface than freeze-dried samples, while no or only minor differences in results were obtained using the Hg method. The Hg method was more reproducible than the other methods. Special care must be exercised during XPS analysis to minimize mercury degradation.
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- Hiukka, A, et al.
(författare)
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ApoCIII-Enriched LDL in Type 2 Diabetes Displays Altered Lipid Composition, Increased Susceptibility for Sphingomyelinase and Increased binding to Biglycan.
- 2009
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Ingår i: Diabetes. - : American Diabetes Association. - 1939-327X .- 0012-1797. ; 58:9, s. 2018-2026
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Tidskriftsartikel (refereegranskat)abstract
- Objective- Apolipoprotein CIII (apoCIII) is an independent risk factor for cardiovascular disease, but the molecular mechanisms involved are poorly understood. Here, we investigated potential proatherogenic properties of apoCIII-containing LDL from hypertriglyceridemic patients with type 2 diabetes. Research design and methods - LDL was isolated from controls and subjects with type 2 diabetes, and from apoB transgenic mice. LDL-biglycan binding was analyzed with a solid-phase assay using immunoplates coated with biglycan. Lipid composition was analyzed with mass spectrometry. Hydrolysis of LDL by sphingomyelinase was analyzed after labeling plasma LDL with [(3)H]sphingomyelin. ApoCIII isoforms were quantified after isoelectric focusing. Human aortic endothelial cells were incubated with desialylated apoCIII or with LDL enriched with specific apoCIII isoforms. Results- We showed that enriching LDL with apoCIII only induced a small increase in LDL-proteoglycan binding, and this effect was dependent on a functional Site A in apoB100. Our findings indicated that intrinsic characteristics of the diabetic LDL other than apoCIII per se are responsible for further increased proteoglycan binding of diabetic LDL with high endogenous apoCIII, and we showed alterations in the lipid composition of diabetic LDL with high apoCIII. We also demonstrated that high apoCIII increased susceptibility of LDL to hydrolysis and aggregation by SMase. In addition, we demonstrated that sialylation of apoCIII increased with increasing apoCIII content, and that sialylation of apoCIII was essential for its proinflammatory properties. Conclusions- We have demonstrated a number of features of apoCIII-containing LDL from hypertriglyceridemic patients with type 2 diabetes that could explain the proatherogenic role of apoCIII.
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- Johansson, L-S, et al.
(författare)
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An XPS round robin investigation on analysis of wood pulp fibres and filter paper
- 2005
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Ingår i: Surface Science. - 0039-6028 .- 1879-2758. ; 584:1, s. 126-132
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Tidskriftsartikel (refereegranskat)abstract
- X-ray photoelectron spectroscopy (XPS) has been applied to pulp and paper research for decades. However, there has been no attempt to standardise or even systematically compare experimental and analysis procedures, even though it is known that fibrous, nature-derived and insulating fibre materials pose remarkable challenges to reliable surface analysis. The experimental problems are mainly linked with neutralisation, energy resolution, contamination and X-ray induced degradation. We have tested applicability, reliability and reproducibility of XPS analysis on real pulp samples with varying lignin and extractives contents in a small round robin investigation. We also tested the instrumental set-ups with an acetone-extracted filter paper, used as a reference sample. The data, collected at four different laboratories with state-of-the-art instruments indicate that reproducible results can be obtained, despite minor differences in experimental and analysis procedures. However, we found that a specified sample handling procedure and limited X-ray exposure are crucial for reproducible, reliable data. Based on the round robin data we recommend dose restricted monochromatic measurements, a cellulosic in situ reference and a consistent sample handling procedure. The data confirms that a paper-based reference material and the correlation of high-resolution C 1s data with O/C atomic ratios can be used in testing instruments and experimental set-ups for pulp and paper materials.
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| 12. |
- Legler, Tobias J., et al.
(författare)
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Workshop report on the extraction of foetal DNA from maternal plasma
- 2007
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Ingår i: Prenatal Diagnosis. - : Wiley. - 1097-0223 .- 0197-3851. ; 27:9, s. 824-829
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Tidskriftsartikel (refereegranskat)abstract
- Objective Cell free foetal DNA (cff DNA) extracted from maternal plasma is now recognized as a potential source for prenatal diagnosis but the methodology is currently not well standardized. To evaluate different manual and automated DNA extraction methods with a view to developing standards, an International Workshop was performed. Methods Three plasma pools from RhD-negative pregnant women, a DNA standard, real-time-PCR protocol, primers and probes for RHD were sent to 12 laboratories and also to one company (Qiagen, Hilden, Germany). In pre-tests, pool 3 showed a low cff DNA concentration, pool I showed a higher concentration and pool 2 an intermediate concentration. Results The QIAamp DSP Virus Kit, the High Pure PCR Template Preparation Kit, an in-house protocol using the QIAamp DNA Blood Mini Kit, the CST genomic DNA purification kit, the Magna Pure LC, the MDx, the M48, the EZl and an in-house protocol using magnetic beads for manual and automated extraction were the methods that were able to reliably detect foetal RHD. The best results were obtained with the QIAamp DSP Virus Kit. The QIAamp DNA Blood Mini Kit showed very comparable results in laboratories that followed the manufacturer's protocol and started with >= 500 mu L plasma. One participant using the QIAamp DNA Blood Midi Kit failed to detect reliably RHD in pool 3. Conclusions This workshop initiated a standardization process for extraction of cff DNA in maternal plasma. The highest yield was obtained by the QIAamp DSP Virus Kit, a result that will be evaluated in more detail in future studies. Copyright (c) 2007 John Wiley & Sons, Ltd.
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| 13. |
- Ljungvall, K, et al.
(författare)
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Delayed effects on plasma concentration of testosterone and testicular morphology by intramuscular low-dose di(2-ethylhexyl)phthalate or oestradiol benzoate in the prepubertal boar
- 2005
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Ingår i: Theriogenology. - : Elsevier. - 0093-691X .- 1879-3231. ; 64:5, s. 1170-1184
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Tidskriftsartikel (refereegranskat)abstract
- The immediate and delayed effects of prepubertal exposure to di(2-ethylhexyl)phthalate (DERP) or oestradiol benzoate on the plasma concentrations of testosterone, oestradiol and LH, as well as testicular morphology were examined in prepubertal boars. In a split litter design experiment, prepubertal boars were intramuscularly exposed to DEHP, oestradiol or vehicle during five weeks, starting at six weeks of age. The dose of DEHP was 50 mg/kg of bodyweight twice weekly, which is in the same range as recently used oral doses in rodents. Oestradiol-benzoate was administered at 0.25 mg/kg of bodyweight twice weekly. One set of animals was examined immediately after the exposure, and the other set was examined at an age of 7.5 months. During the exposure period concentrations of LH in plasma were lower (p = 0.02) in the oestradiol-treated animals than in the control group. In the group exposed to oestradiol, the relative to the body weight of the testicles tended to be lower (p = 0.07) than control immediately after five weeks of exposure, and the relative to the body weight of the seminal vesicles tended to be lower (p = 0.05) than control at 7.5 months of age. In the DEHP-exposed group an elevated (p = 0.005) concentration of testosterone and increased (p = 0.04) area of the Leydig cells in the testicles compared to the control group were seen at 7.5 months of age. These data suggest that DEHP early in life causes delayed effects on the reproductive system in the adult. (c) 2005 Elsevier Inc. All rights reserved.
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| 14. |
- Rosengren, B., et al.
(författare)
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Secretory phospholipase A2 group V: lesion distribution, activation by arterial proteoglycans, and induction in aorta by a Western diet
- 2006
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Ingår i: Arterioscler Thromb Vasc Biol. - 1524-4636. ; 26:7, s. 1579-85
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: To study the distribution of group V secretory phospholipase A2 (sPLA2) in human and mouse lesions and compare its expression by human vascular cells, its activity toward lipoproteins, and the interaction with arterial proteoglycans (proteoglycans) with those of sPLA2-IIA. In addition, we also investigated the effect of a Western diet and lipopolysaccharide challenge on the aortic expression of these enzymes in mouse models. METHODS AND RESULTS: Immunohistochemistry showed sPLA2-V in human and mouse lesions to be associated with smooth muscle cells and also surrounding foam cells in lipid core areas. mRNA of the enzyme was expressed in human lesions and human vascular cells, supporting the immunohistochemistry data. sPLA2-V but not sPLA2-IIA was active on lipoproteins in human serum. The association with proteoglycans enhanced 2- to 3-fold sPLA2-V activity toward low-density lipoproteins but not that of the group IIA enzyme. Experiments in mouse models showed that treatment with a Western diet induced expression of sPLA2-V but not that of sPLA2-IIA in aorta. On the other hand, lipopolysaccharide-induced acute inflammation augmented the expression of sPLA2-IIA but not that of sPLA2-V. CONCLUSIONS: These results indicate that these phospholipases could have different roles in atherosclerosis.
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- van Reyk, D. M., et al.
(författare)
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Oxysterols in biological systems: sources, metabolism and pathophysiological relevance
- 2006
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Ingår i: Redox Rep. - 1743-2928. ; 11:6, s. 255-62
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Tidskriftsartikel (refereegranskat)abstract
- Oxysterols are the 27-carbon products of cholesterol oxidation by both enzymic and non-enzymic mechanisms. Their roles in cholesterol homeostasis, as well as in diseases in which oxidative damage and lipid peroxidation are implicated (e.g. atherosclerosis), have been investigated extensively. However, there are a number of important considerations regarding the physiological/pathophysiological functions and activities of the different oxysterols. First, in both normal and diseased tissues, the levels of oxysterols are very low when compared to the native sterol. Also, when assessing studies that have measured the levels of oxysterols in biological samples, there must be careful consideration as to the method of sample isolation, storage and sampling. This is because of the potential generation or loss of oxysterols during these procedures. Additionally, the relevance of in vitro studies which examine the effects of oxysterols upon cell function should be judged as to cellular oxysterol content (both in terms of the levels of oxysterol and the degree of esterification) resulting from the oxysterol treatment. We present evidence that the means by which oxysterol is delivered in vitro determines whether the oxysterol content reflects what has been found in vivo. Studies identifying the specific cellular targets of oxysterol indicate that several oxysterols may be regulators of cellular lipid metabolism via control of gene transcription.
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