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- Meisgen, Sabrina, et al.
(författare)
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The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence
- 2014
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 275:6, s. 640-651
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVE: The main aim of this study was to identify foetal susceptibility genes on chromosome six for Ro/SSA autoantibody-mediated congenital heart block.SUBJECTS AND DESIGN: Single nucleotide polymorphism (SNP) genotyping of individuals in the Swedish Congenital Heart Block (CHB) study population was performed. Low-resolution HLA-A, -Cw and -DRB1 allele typing was carried out in 86 families comprising 339 individuals (86 Ro/SSA autoantibody-positive mothers, 71 fathers, 87 CHB index cases, and 95 unaffected siblings).RESULTS: A case-control comparison between index cases and population-based out-of-study controls (n=1710) revealed association of CHB with 15 SNPs in the 6p21.3 MHC locus at a chromosome-wide significance of p<2.59×10(-6) (OR 2.21-3.12). In a family-based analysis of association of SNP markers as well as distinct MHC class I and II alleles with CHB, HLA-DRB1*04 and HLA-Cw*05 variants were significantly more frequently transmitted to affected individuals (p<0.03 and p<0.05, respectively), while HLA-DRB1*13 and HLA-Cw*06 variants were significantly less often transmitted to affected children (p<0.04 and p<0.03). We further observed marked association of increased paternal (but not maternal) HLA-DRB1*04 transmission to affected offspring (p<0.02).CONCLUSIONS: HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, while DRB1*13 and Cw*06 emerged as protective alleles. Additionally, we demonstrated a paternal contribution to foetal susceptibility to CHB for the first time.
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- Ambrosi, Aurelie, et al.
(författare)
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Development of heart block in children of SSA/SSB-autoantibody-positive women is associated with maternal age and displays a season-of-birth pattern
- 2012
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Ingår i: Annals of the Rheumatic Diseases. - London : BMJ Publishing Group. - 0003-4967 .- 1468-2060. ; 71:3, s. 334-340
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Tidskriftsartikel (refereegranskat)abstract
- Objective Congenital heart block may develop in the fetuses of Ro/SSA-positive and La/SSB-positive mothers. Recurrence rates of only 10-20% despite persisting maternal antibodies indicate that additional factors are critical for the establishment of heart block. The authors investigated the influence of other maternal and fetal factors on heart block development in a Swedish population-based cohort. less thanbrgreater than less thanbrgreater thanMethods The influence of fetal gender, maternal age, parity and time of birth on heart block development was analysed in 145 families, including Ro/La-positive (n=190) and Ro/La-negative (n=165) pregnancies. less thanbrgreater than less thanbrgreater thanResults There was a recurrence rate of 12.1% in Ro/La-positive women, and no recurrence in Ro/La-negative women. Fetal gender and parity did not influence the development of heart block in either group. Maternal age in Ro/La-positive pregnancies with a child affected by heart block was, however, significantly higher than in pregnancies resulting in babies without heart block (pandlt;0.05). Seasonal timing of pregnancy influenced the outcome. Gestational susceptibility weeks 18-24 occurring during January-March correlated with a higher proportion of children with heart block and lower vitamin D levels during the same period in a representative sample of Swedish women and a corresponding higher proportion of children with heart block born in the summer (pandlt;0.02). Maternal age or seasonal timing of pregnancy did not affect the outcome in Ro/La-negative pregnancies. less thanbrgreater than less thanbrgreater thanConclusion This study identifies maternal age and seasonal timing of pregnancy as novel risk factors for heart block development in children of Ro/La-positive women. These observations may be useful for counselling when pregnancy is considered.
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| 7. |
- Egesten, Arne, et al.
(författare)
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The proinflammatory CXC-chemokines GRO-α/CXCL1 and MIG/CXCL9 are concomitantly expressed in ulcerative colitis and decrease during treatment with topical corticosteroids
- 2007
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Ingår i: International Journal of Colorectal Disease. - : Springer Science and Business Media LLC. - 0179-1958 .- 1432-1262. ; 22:12, s. 1421-1427
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Tidskriftsartikel (refereegranskat)abstract
- Background Ulcerative colitis is characterized by relapsing mucosal inflammation where the lesions include tissue-damaging granulocytes. In addition, T cells and natural killer (NK) cells play important pathophysiologic roles. Chemokines are a large family of peptides that play key roles in the regulation of inflammation. The CXC-chemokines, growth-related oncogene (GRO)-α/CXCL1 and interleukin (IL)-8/CXCL8, both recruit neutrophils and possess mitogenic properties, whereas the interferon-dependent CXC-chemokines monokine induced by gamma-interferon (MIG)/CXCL9, interferon-γ inducible protein of 10 kD/CXCL10, and IFN-inducible T cell alpha chemoattractant/CXCL11 recruit and activate T cells and NK cells. Materials and methods The expression of CXC-chemokines was studied in eight controls and in 11 patients suffering from ulcerative colitis in the distal part of the colon, before and during topical treatment with corticosteroids. Perfusates (obtained before, after 7 days, and after 28 days of treatment) and pinch biopsies (obtained before and after 28 days of treatment) were collected by colonoscopy. The rectal release of GRO-α and MIG was determined by enzyme-linked immunosorbent assay (ELISA), and tissue expression of the chemokines was detected in colonic tissue by immunohistochemistry. Results In perfusates, high levels of GRO-α, IL-8, and MIG were detected compared with controls (p = 0.02, 0.005, and p = 0.03, respectively). During treatment with corticosteroids, both GRO-α and MIG decreased. In clinical nonresponders, characterized by sustained inflammation, the levels of GRO-α and MIG remained elevated. Both epithelial cells and granulocytes, present in the submucosa, expressed GRO-α and MIG as detected by immunohistochemistry. Conclusions CXC-chemokines are likely to be important in the pathophysiology of ulcerative colitis and may become targets for novel treatment strategies. In addition, GRO-α may serve as a marker of disease activity.
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- Eliasson, Alf, 1959, et al.
(författare)
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The precision of fit of milled titanium implant frameworks (I-Bridge) in the edentulous jaw.
- 2010
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Ingår i: Clinical implant dentistry and related research. - : Wiley. - 1708-8208 .- 1523-0899. ; 12:2, s. 81-90
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: New computer numeric controlled (CNC)-milled frameworks for implant-supported prostheses have been introduced. However, no data are available on the precision of fit of these new frameworks. PURPOSE: The purpose of this study is to evaluate the precision of fit of a new CNC-milled framework technique (I-Bridge, Biomain AB, Helsingborg, Sweden) using Brånemark System (Nobel Biocare AB, Göteborg, Sweden) and NobelReplace (Nobel Biocare AB) system implants. MATERIALS AND METHODS: Ten test frameworks were fabricated for one master model for each implant system. Five additional frameworks were fabricated for five different models simulating clinical cases as controls (Brånemark System). The distortion of implant center point positions was measured in x-, y-, and z-axes and in three dimensions by using a contact-type coordinate measuring machine and a computer program developed specifically for this purpose. Mann-Whitney U-test was used to compare differences of distortion within and between the groups. RESULTS: The maximal distortion in arch width (x-axis) and curvature (y-axis) was within 71 and 55 microm for all frameworks, respectively. The mean distortion in absolute figures in x-, y-, z-axes and three dimensions was for "clinical control" frameworks 23, 26, 4, and 34 microm as compared with less than 12, 12, 2, and 17 microm for Brånemark and NobelReplace frameworks, respectively. Control frameworks showed significantly (p < .05) greater mean and range of distortions in x- and y-axes and in three dimensions compared with test frameworks. CONCLUSION: All measured frameworks presented signs of misfit, indicating that no framework had a "passive fit." Frameworks produced in a more routine clinical environment seem to present greater levels of distortion as compared with frameworks produced in a strict test situation. However, all measured frameworks presented levels of precision of fit within limits considered to be clinically acceptable in earlier studies of frameworks placed on abutments.
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- Eriksson, Anders, et al.
(författare)
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Evaluation of delivery strategies for forest fuels applying a model for Weather-driven Analysis of Forest Fuel Systems (WAFFS)
- 2017
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Ingår i: Applied Energy. - : Elsevier BV. - 0306-2619 .- 1872-9118. ; 188, s. 420-430
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Tidskriftsartikel (refereegranskat)abstract
- Earlier studies have highlighted the importance of quality and quantity in forest fuel supply chains, since these parameters affect product value and handling properties, but both are constantly changing over time. Great monetary losses can be incurred if forest fuel material has to be delivered to end-users in non-optimal condition, e.g. to meet seasonal fuel demand with its large short-term variations. Thus earlier studies have also highlighted the importance of more information on the forest fuel supply chain. This paper describes development of a model for Weather-driven Analysis of Forest Fuel Systems (WAFFS) that can be used when analysing forest fuel supply chains and that accounts for both active machine activities and passive activities such as quality changes during storage. The aim was to develop a methodology that can be used to evaluate forest fuel supply chain scenarios and analyse various delivery strategies under different conditions. Application of WAFFS to evaluate delivery strategies for forest fuels showed that system improvements were possible when the right biomass was delivered at the right time. The WAFFS model gives an overview of biomass actually stored at different geographical locations and places (heaps or windrows) in terms of both quality and quantity. Delivery strategies actively prioritising biomass storage proved capable of delivering more energy when most needed, thereby improving yearly machine utilisation for contractors in the supply chain. (C) 2016 Elsevier Ltd. All rights reserved.
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