| 1. |
- Lanke, E., et al.
(author)
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Co-segregation of the PROS1 locus and protein S deficiency in families having no detectable mutations in PROS1
- 2004
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In: Journal of Thrombosis and Haemostasis. - : Wiley-Blackwell. - 1538-7933 .- 1538-7836. ; 2:11, s. 1918-1923
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Journal article (peer-reviewed)abstract
- Inherited deficiency of protein S constitutes an important risk factor of venous thrombosis. Many reports have demonstrated that causative mutations in the protein S gene are found only in approximately 50% of the cases with protein S deficiency. It is uncertain whether the protein S gene is causative in all cases of protein S deficiency or if other genes are involved in cases where no mutation is identified. The aim of the current study was to determine whether haplotypes of the protein S gene cosegregate with the disease phenotype in cases where no mutations have been found. Eight protein S-deficient families comprising 115 individuals where previous DNA sequencing had failed to detect any causative mutations were analyzed using four microsatellite markers in the protein S gene region. Co-segregation between microsatellite haplotypes and protein S deficiency was found in seven of the investigated families, one family being uninformative. This suggests that the causative genetic defects are located in or close to the protein S gene in a majority of such cases where no mutations have been found.
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| 2. |
- Lanke, E., et al.
(author)
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Genetic analysis of 31 Swedish type 1 von Willebrand disease families reveals incomplete linkage to the von Willebrand factor gene and a high frequency of a certain disease haplotype
- 2005
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In: Journal of Thrombosis and Haemostasis. - : Wiley-Blackwell. - 1538-7933 .- 1538-7836. ; 3:12, s. 2656-2663
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Journal article (peer-reviewed)abstract
- BACKGROUND: The most common type of von Willebrand disease (VWD), type 1, has in only a few cases been explained by an identified causative mutation in the von Willebrand factor (VWF) gene. The ABO blood group and other modifier loci outside the VWF gene may contribute to the development of type 1 VWD. OBJECTIVES AND METHODS: Our aim was to determine whether there was genetic linkage to the VWF gene in 31 Swedish type 1 VWD families. Stringent diagnostic criteria in accordance with ISTH guidelines were used. Genetic linkage was investigated by using two highly informative dinucleotide microsatellite markers, which we have recently identified, located in introns six and 15 of the VWF gene. We also investigated the existence of common disease haplotypes and the relation between type 1 VWD and ABO blood group. RESULTS: We found genetic linkage to the VWF gene in 27 (87%) of the families. However, in four (13%) of the families, there was clearly no genetic linkage. We found the 4751A>G (Tyr1584Cys) sequence variation in exon 28, which is a common mutation in the Canadian VWD population (14.3%), in only one of the 31 families (3.2%). A possible common mutation was identified in six of the 27 (22%) families with genetic linkage. Blood group O was over-represented among type 1 VWD patients. CONCLUSION: We conclude that there is linkage between the VWF gene and hereditary type 1 VWD in a majority of families.
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| 4. |
- Halling, A, et al.
(author)
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Comparison between the Klemetti index and heel DXA BMD measurements in the diagnosis of reduced skeletal bone mineral density in the elderly
- 2005
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In: Osteoporosis International. - : Springer Science and Business Media LLC. - 1433-2965 .- 0937-941X. ; 16:8, s. 999-1003
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Journal article (peer-reviewed)abstract
- Osteopenia/osteoporosis affect many elderly people and might not be detected until symptoms of fractures occur. Early detection of osteopenia/osteoporosis is important and would allow preventive measures and treatment. Access to screening for osteopenia/osteoporosis is often limited, whereas panoramic radiography is commonly used in dentistry. The aim of this study was to determine the validity of the Klemetti index (KI), measured on panoramic radiographs, in the diagnosis of osteopenia/osteoporosis as defined by a bone mineral density (BMD) measurement below) 1.5 standard deviations (SDs) of a community based sample. In total, 211 consecutive participants ( 102 men and 109 women) 60 - 96 years in the SNAC-Blekinge study ( Swedish National Study on Ageing and Care) underwent bone densitometry [ by dual-energy X-ray absorptiometry (DXA)] of both heels. A panoramic radiograph was taken of each participant, and mandibular cortex on a panoramic radiograph was classified as '0' or normal ( even and sharp endosteal margin), '1', moderately eroded ( evidence of lacunar resorption or endosteal cortical residues), or '2', severely eroded ( unequivocal porosity). From logistic regression, the odds ratio of having a BMD measurement below -1.5 SD was 8.04 (95% CI 2.39 to 27.12, P< 0.001) in the 'osteopenic' (KI category 2), compared with the 'normal' group ( KI categories 0 and 1). Receiver operating characteristic (ROC) curve analysis was used to measure the validity of the KI indicating osteopenia ( KI category 2) in predicting reduced BMD. This point provided a sensitivity of 50% and a specificity of 89%. Positive and negative predictive values were 21% and 97%, respectively. There were 87% correctly classified subjects. The area under the ROC curve was 0.64. The present study demonstrated that a negative finding ( KI category < 2) is highly predictive of the absence of osteopenia/osteoporosis as defined by the DXA measurements.
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| 5. |
- Isehed, Catrine, et al.
(author)
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Effectiveness of enamel matrix derivative on the clinical and microbiological outcomes following surgical regenerative treatment of peri-implantitis : A randomized controlled trial
- 2016
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In: Journal of Clinical Periodontology. - Hoboken, USA : Wiley-Blackwell Publishing Inc.. - 0303-6979 .- 1600-051X. ; 43:10, s. 863-873
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Journal article (peer-reviewed)abstract
- Objective: This randomized clinical trial aimed at comparing radiological, clinical and microbial effects of surgical treatment of peri-implantitis alone or in combination with enamel matrix derivative (EMD).Methods: Twenty-six subjects were treated with open flap debridement and decontamination of the implant surfaces with gauze and saline preceding adjunctive EMD or no EMD. Bone level (BL) change was primary outcome and secondary outcomes were changes in pocket depth (PD), plaque, pus, bleeding and the microbiota of the peri-implant biofilm analyzed by the Human Oral Microbe Identification Microarray over a time period of 12 months.Results: In multivariate modelling, increased marginal BL at implant site was significantly associated with EMD, the number of osseous walls in the peri-implant bone defect and a Gram+/aerobic microbial flora, whereas reduced BL was associated with a Gram-/anaerobic microbial flora and presence of bleeding and pus, with a cross-validated predictive capacity (Q(2) ) of 36.4%. Similar, but statistically non-significant, trends were seen for BL, PD, plaque, pus and bleeding in univariate analysis.Conclusion: Adjunctive EMD to surgical treatment of peri-implantitis was associated with prevalence of Gram+/aerobic bacteria during the follow-up period and increased marginal BL 12 months after treatment.
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| 7. |
- Johansson, Anna Maria, et al.
(author)
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Variation in the VWF Gene in Swedish Patients with Type 1 von Willebrand Disease.
- 2011
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In: Annals of Human Genetics. - : Wiley. - 1469-1809 .- 0003-4800. ; 75, s. 447-455
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Journal article (peer-reviewed)abstract
- The spectrum of mutations in the von Willebrand factor (VWF) gene in a Swedish type 1 von Willebrand disease (VWD) population was investigated. To gain more knowledge about the dynamics of VWD mutations, the data were analyzed from a population genetics perspective. The VWF gene was resequenced in 54 Swedish patients diagnosed with type 1 VWD. Fifty-five variable sites were located in exons, 10 in the promoter and 38 in introns. The spectrum of mutations was similar to a European study, but included 10 new candidate mutations. The synonymous sites were evenly distributed along the coding sequence, whereas nonsynonymous sites were located into three clusters. Overall, 44% of patients had no mutations or candidate mutations and no promoter haplotype was significantly associated with disease. In 11 patients (20%), more than one mutation or candidate mutation was detected. The allelic identity for the putative disease-causing mutations was approximately 0.1, compatible with an overall disease frequency of 1%. VWF sequences for exon 28 from eight monkey species were compared with the variable positions found in our patients. Positions classified as mutations were overrepresented among sites that were fixed in all eight monkey species. No general increase of the mutation rate was found for the pseudogene region.
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