| 1. |
- Kohl, S, et al.
(författare)
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
- 2005
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Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1476-5438 .- 1018-4813. ; 13:3, s. 302-308
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Tidskriftsartikel (refereegranskat)abstract
- Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutation spectrum comprises 28 different mutations including 12 nonsense mutations, eight insertions and/or deletions, five putative splice site mutations, and three missense mutations. Thus, the majority of mutations in the CNGB3 gene result in significantly altered and/or truncated polypeptides. Several mutations were found recurrently, in particular a 1 bp deletion, c.1148delC, which accounts for over 70% of all CNGB3 mutant alleles. In conclusion, mutations in the CNGB3 gene are responsible for approximately 50% of all patients with achromatopsia. This indicates that the CNGB3/ACHM3 locus on chromosome 8q21 is the major locus for achromatopsia in patients of European origin or descent.
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| 2. |
- Andreasson, B., et al.
(författare)
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Determination of fibre pore structure : influence of salt, pH and conventional wet strength resins
- 2005
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Ingår i: Cellulose. - : Springer Science and Business Media LLC. - 0969-0239 .- 1572-882X. ; 12:3, s. 253-265
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Tidskriftsartikel (refereegranskat)abstract
- It has been shown, in the present investigation, that the two methods used to investigate the pore size distribution of unbleached chemical pulps, i.e. inverse size exclusion chromatography (ISEC) and nuclear magnetic resonance (NMR), give different average pore radius for the pores inside the fibre wall. This is due to the way in which these experiments are performed and the sensitivity of the methods to different types of pores in the cell wall. It was also shown that the two methods gave different results when changing the pH and the ionic strength of the pulp suspension. The pore radius, as detected with ISEC, decreased with both increasing ionic strength and decreasing pH, indicating a loose structure of the exterior of the fibrillar network. However, the pore radius as detected with NMR, was virtually unaffected when increasing the ionic strength, indicating a very rigid structure of the interior of the fibre wall. Decreasing pH though, lead to a decrease in pore radius indicating that upon protonation of the carboxylic groups in the fibre wall, the electrostatic repulsion is diminished and the average pore radius decreases. The NMR technique was also used to study wet strength aid penetration into the fibre wall. It was shown that wet strength aids with a small molecular weight, penetrated the fibre wall, as detected by a decrease in pore radius. It was also shown that addition of different wet strength aids increased the tensile index of the sheet and decreased the fibre strength, measured as zero span-strength of the sheets.
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| 3. |
- Andreasson, B, et al.
(författare)
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Management of patients with polycythaemia vera: results of a survey among Swedish haematologists
- 2005
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Ingår i: European Journal of Haematology. - : Wiley. - 1600-0609 .- 0902-4441. ; 74:6, s. 489-495
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Tidskriftsartikel (refereegranskat)abstract
- The prevailing attitudes regarding diagnostic and therapeutic procedures in patients with polycythaemia vera (PV) among Swedish haematologists were surveyed by way of a mailed questionnaire in August 2002. Among diagnostic procedures frequent use is reported for arterial O-2 saturation, spleen size determination, bone marrow histology, serum erythropoietin, serum cobalamins and leukocyte alkaline phosphatase score, while direct determination of the red blood cell mass is used infrequently (seldom or never by 82%). Among therapeutic modalities hydroxyurea and phlebotomy alone were most frequently used. The P-32 therapy was used at least sometimes by 57% of the physicians, and more widely in the university clinics. Anagrelide and alfa-interferon was used in a minority of patients only. The use of prophylactic acetylsalicylic acid was very variable. The majority of the physicians had an aim for their phlebotomy treatment at a level of 0.45 or less, but 21% used a level of 0.46-0.49 and 8% a level of 0.55-0.60 (in younger patients). The platelet level, at which myelosuppressive therapy was initiated, also varied, from 400 x 10(9)/L to > 1500 x 10(9)/L. It can be concluded that in practical clinical work in Sweden the diagnosis of PV is established by frequent use of serum erythropoietin, bone marrow examination and spleen size determination. The use of different therapeutic modalities is very variable. Many physicians carry out their phlebotomy treatment with less intensity compared with national and international recommendations.
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| 4. |
- Forsstrom, J., et al.
(författare)
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Influence of pore structure and water retaining ability of fibres on the strength of papers from unbleached kraft fibres
- 2005
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Ingår i: Nordic Pulp & Paper Research Journal. - : Walter de Gruyter GmbH. - 0283-2631 .- 2000-0669. ; 20:2, s. 176-185
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Tidskriftsartikel (refereegranskat)abstract
- The influence of pore structure and the water retaining ability of fibres on different strength properties of papers from unbleached kraft fibres was investigated and the effects of pulp yield, counter-ion types, pH and homification were determined. NMR relaxation measurements of water were used to determine the pore structure of the fibres and WRV and FSP measurements were used to determine their water retaining ability. The average pore radius, as determined by NMR, was almost unaffected by changes in pulp yield whereas changes in counter-ion and pH had a significant effect on the average pore radius. The detected changes in NMR were suggested to be due to changes in the swelling forces both within the fibre wall and at the fibre surface. The WRV value decreased with decreasing yield and it was significantly affected by pH and counter-ion. Changes in WRV were explained to be largely associated with changes in the amount of water associated with the fibre surface. The FSP values decreased with decreasing yield just as the WRV's. Homification upon drying and reslushing significantly lowered the average pore radius, whereas the FSP only showed a minor decrease, suggesting that the surface area available to water was changed without drastically changing the overall fibre wall volume. The differences between FSP NMR and WRV can hence be traced back to what the methods are actually measuring. It was concluded that the different measuring methods contain unique information and that a combination of the methods is necessary to give as complete a picture as possible over the changes that occur in the fibre wall upon varying the condition for the fibres. The influence of pore size on sheet tensile properties was also investigated. It was found that fibres with larger pores produced an increased tensile index and tensile stiffness of the paper made from these fibres. It was suggested that fibres with larger pores allow for a larger molecular contact area between fibres, stronger fibre/fibre joints and consequently a higher strength of the formed sheets.
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