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- Hagleitner, M M, et al.
(author)
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Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome).
- 2008
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In: Journal of medical genetics. - : BMJ. - 1468-6244. ; 45:2, s. 93-9
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Journal article (peer-reviewed)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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| 2. |
- Hallmans, Göran, et al.
(author)
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Rye, lignans and human health
- 2003
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In: Proceedings of the Nutrition Society. - 0029-6651 .- 1475-2719. ; 62:1, s. 193-9
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Journal article (peer-reviewed)abstract
- Rye bran contains a high content not only of dietary fibre, but also of plant lignans and other bioactive compounds in the so-called dietary fibre complex. Blood concentrations of lignans such as enterolactone have been used as biomarkers of intake of lignan-rich plant food. At present,evidence from studies in human subjects does not warrant the conclusion that rye, whole grains orphyto-oestrogens protect against cancer. Some studies, however, have pointed in that direction,especially in relation to cancers of the upper digestive tract. A number of prospective epidemiological studies have clearly shown a protective effect of wholegrain cereals against myocardial infarctions. A corresponding protective effect against diabetes and ischaemic stroke(brain infarct) has also been demonstrated. It seems reasonable to assume that these protective effects are associated with one or more factors in the dietary fibre complex.
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| 3. |
- Fardim, P, et al.
(author)
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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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In: Holzforschung. - 0018-3830 .- 1437-434X. ; 60, s. 149-155
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Journal article (peer-reviewed)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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| 5. |
- Johansson, L-S, et al.
(author)
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An XPS round robin investigation on analysis of wood pulp fibres and filter paper
- 2005
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In: Surface Science. - 0039-6028 .- 1879-2758. ; 584:1, s. 126-132
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Journal article (peer-reviewed)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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