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Search Results: 1 - 10 of 594 matches for " Katarina Tengvall "
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Comparison of buccal and blood-derived canine DNA, either native or whole genome amplified, for array-based genome-wide association studies
Gonzalo Rincon, Katarina Tengvall, Janelle M Belanger, Laetitia Lagoutte, Juan F Medrano, Catherine André, Anne Thomas, Cynthia Lawley, Mark ST Hansen, Kerstin Lindblad-Toh, Anita M Oberbauer
BMC Research Notes , 2011, DOI: 10.1186/1756-0500-4-226
Abstract: In both buccal and blood samples, whether whole genome amplified or not, 97% of the samples had SNP call rates in excess of 80% indicating that the vast majority of the SNPs would be suitable to perform association studies regardless of the DNA source. Similarly, there were no significant differences in marker intensity measurements between buccal and blood samples for copy number variations (CNV) analysis.All DNA samples assayed, buccal or blood, native or whole genome amplified, are appropriate for use in array-based genome-wide association studies. The concordance between subsets of dogs for which both buccal and blood samples, or those samples whole genome amplified, was shown to average >99%. Thus, the two DNA sources were comparable in the generation of SNP genotypes and intensity values to estimate structural variation indicating the utility for the use of buccal cytobrush samples and the reliability of whole genome amplification for genome-wide association and CNV studies.The present study was undertaken to assess the utility of buccal cytobrush derived DNA and whole genome amplified (WGA) blood or buccal-derived DNA for use on the most recent iteration of the canine SNP GWA platform. Buccal-derived DNA has been suggested as insufficient in quantity and quality for application to the high-throughput SNP array platforms [1]. Whole blood DNA and buccal-derived DNA, as well as DNA samples (from both sources) subjected to WGA, were compared using the Illumina Infinium CanineHD Genotyping BeadChip containing 173,662 SNPs. Copy number variations (CNV), while shown to account for a significant proportion of human genetic polymorphism and have been suggested to play a role in genetic causes of disease [2], is complex and technically challenging to analyze. Specifically CNV analysis is uniquely different to GWA-SNP analysis because the data is based on the intensity measurement of the SNP. Despite the technical issues, the opportunity exists to examine this important
Genome-Wide Analysis in German Shepherd Dogs Reveals Association of a Locus on CFA 27 with Atopic Dermatitis
Katarina Tengvall ,Marcin Kierczak ,Kerstin Bergvall,Mia Olsson,Marcel Frankowiack,Fabiana H. G. Farias,Gerli Pielberg,?rjan Carlborg,Tosso Leeb,G?ran Andersson,Lennart Hammarstr?m,?ke Hedhammar,Kerstin Lindblad-Toh
PLOS Genetics , 2013, DOI: 10.1371/journal.pgen.1003475
Abstract: Humans and dogs are both affected by the allergic skin disease atopic dermatitis (AD), caused by an interaction between genetic and environmental factors. The German shepherd dog (GSD) is a high-risk breed for canine AD (CAD). In this study, we used a Swedish cohort of GSDs as a model for human AD. Serum IgA levels are known to be lower in GSDs compared to other breeds. We detected significantly lower IgA levels in the CAD cases compared to controls (p = 1.1×10?5) in our study population. We also detected a separation within the GSD cohort, where dogs could be grouped into two different subpopulations. Disease prevalence differed significantly between the subpopulations contributing to population stratification (λ = 1.3), which was successfully corrected for using a mixed model approach. A genome-wide association analysis of CAD was performed (ncases = 91, ncontrols = 88). IgA levels were included in the model, due to the high correlation between CAD and low IgA levels. In addition, we detected a correlation between IgA levels and the age at the time of sampling (corr = 0.42, p = 3.0×10?9), thus age was included in the model. A genome-wide significant association was detected on chromosome 27 (praw = 3.1×10?7, pgenome = 0.03). The total associated region was defined as a ~1.5-Mb-long haplotype including eight genes. Through targeted re-sequencing and additional genotyping of a subset of identified SNPs, we defined 11 smaller haplotype blocks within the associated region. Two blocks showed the strongest association to CAD. The ~209-kb region, defined by the two blocks, harbors only the PKP2 gene, encoding Plakophilin 2 expressed in the desmosomes and important for skin structure. Our results may yield further insight into the genetics behind both canine and human AD.
Dissimilarities in Social Support as Described by Swedish- and Foreign-Born Persons Diagnosed with Type 2 Diabetes and Living in Sweden  [PDF]
Katarina Hjelm, Carina Berter?
Open Journal of Nursing (OJN) , 2014, DOI: 10.4236/ojn.2014.43025
Abstract:

Diabetes (DM) requires self-care that is demanding and may cause stress. Social support can buffer effects of stress. No previous study has been found comparing perceptions of foreign-born persons with DM, concerning the content of and need for social support with a population of origin. The aim was to compare the meaning of support and its impact on the life situation in Swedish- and foreign-born persons diagnosed with type 2 DM living in Sweden. A purposive sample of 74 persons; 34 foreign- and 40 Swedish-born, aged 32-80 years, diagnosed with type 2 DM, was included. The foreign-born persons were mostly Middle Eastern and Ex-Yugoslavian refugees. Mixed methods were used and data were collected by qualitative interviews and quantitative data collected by the Norbeck Social Support Questionnaire (NSSQ). Studying the figures measured by NSSQ, no significant differences were found according to gender but foreign-born men scored lower than Swedish, especially in emotional support and aid. The main findings showed that respondents, irrespective of origin, described the meaning of the concept of support mainly as information support in learning to manage DM. However, foreign-born persons also focused on medical support with regular follow-ups while Swedes emphasized the need for emotional support. Foreign- and Swedish-born persons are in general more similar than dissimilar in describing the meaning, need and impact of support. Irrespective of origin they want to learn to manage their disease and thus desire and need regular follow-up and information immediately from being diagnosed. Further studies are needed as the study is based on a limited sample.

Two Loci on Chromosome 5 Are Associated with Serum IgE Levels in Labrador Retrievers
Marta Owczarek-Lipska, Béatrice Lauber, Vivianne Molitor, Sabrina Meury, Marcin Kierczak, Katarina Tengvall, Matthew T. Webster, Vidhya Jagannathan, Yvette Schlotter, Ton Willemse, Anke Hendricks, Kerstin Bergvall, ?ke Hedhammar, G?ran Andersson, Kerstin Lindblad-Toh, Claude Favrot, Petra Roosje, Eliane Marti, Tosso Leeb
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0039176
Abstract: Crosslinking of immunoglobulin E antibodies (IgE) bound at the surface of mast cells and subsequent mediator release is considered the most important trigger for allergic reactions. Therefore, the genetic control of IgE levels is studied in the context of allergic diseases, such as asthma, atopic rhinitis, or atopic dermatitis (AD). We performed genome-wide association studies in 161 Labrador Retrievers with regard to total and allergen-specific immunoglobulin E (IgE) levels. We identified a genome-wide significant association on CFA 5 with the antigen-specific IgE responsiveness to Acarus siro. We detected a second genome-wide significant association with respect to the antigen-specific IgE responsiveness to Tyrophagus putrescentiae at a different locus on chromosome 5. A. siro and T. putrescentiae both belong to the family Acaridae and represent so-called storage or forage mites. These forage mites are discussed as major allergen sources in canine AD. No obvious candidate gene for the regulation of IgE levels is located under the two association signals. Therefore our studies offer a chance of identifying a novel mechanism controlling the host's IgE response.
A Mutation in the SUV39H2 Gene in Labrador Retrievers with Hereditary Nasal Parakeratosis (HNPK) Provides Insights into the Epigenetics of Keratinocyte Differentiation
Vidhya Jagannathan,Jeanette Bannoehr,Philippe Plattet,Regula Hauswirth,Cord Dr?gemüller,Michaela Dr?gemüller,Dominique J. Wiener,Marcus Doherr,Marta Owczarek-Lipska,Arnaud Galichet,Monika M. Welle,Katarina Tengvall,Kerstin Bergvall,Hannes Lohi,Silvia Rüfenacht,Monika Linek,Manon Paradis,Eliane J. Müller,Petra Roosje,Tosso Leeb
PLOS Genetics , 2013, DOI: 10.1371/journal.pgen.1003848
Abstract: Hereditary nasal parakeratosis (HNPK), an inherited monogenic autosomal recessive skin disorder, leads to crusts and fissures on the nasal planum of Labrador Retrievers. We performed a genome-wide association study (GWAS) using 13 HNPK cases and 23 controls. We obtained a single strong association signal on chromosome 2 (praw = 4.4×10?14). The analysis of shared haplotypes among the 13 cases defined a critical interval of 1.6 Mb with 25 predicted genes. We re-sequenced the genome of one case at 38× coverage and detected 3 non-synonymous variants in the critical interval with respect to the reference genome assembly. We genotyped these variants in larger cohorts of dogs and only one was perfectly associated with the HNPK phenotype in a cohort of more than 500 dogs. This candidate causative variant is a missense variant in the SUV39H2 gene encoding a histone 3 lysine 9 (H3K9) methyltransferase, which mediates chromatin silencing. The variant c.972T>G is predicted to change an evolutionary conserved asparagine into a lysine in the catalytically active domain of the enzyme (p.N324K). We further studied the histopathological alterations in the epidermis in vivo. Our data suggest that the HNPK phenotype is not caused by hyperproliferation, but rather delayed terminal differentiation of keratinocytes. Thus, our data provide evidence that SUV39H2 is involved in the epigenetic regulation of keratinocyte differentiation ensuring proper stratification and tight sealing of the mammalian epidermis.
Thorough Investigation of a Canine Autoinflammatory Disease (AID) Confirms One Main Risk Locus and Suggests a Modifier Locus for Amyloidosis
Mia Olsson, Linda Tintle, Marcin Kierczak, Michele Perloski, Noriko Tonomura, Andrew Lundquist, Eva Murén, Max Fels, Katarina Tengvall, Gerli Pielberg, Caroline Dufaure de Citres, Laetitia Dorso, Jér?me Abadie, Jeanette Hanson, Anne Thomas, Peter Leegwater, ?ke Hedhammar, Kerstin Lindblad-Toh, Jennifer R. S. Meadows
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0075242
Abstract: Autoinflammatory disease (AID) manifests from the dysregulation of the innate immune system and is characterised by systemic and persistent inflammation. Clinical heterogeneity leads to patients presenting with one or a spectrum of phenotypic signs, leading to difficult diagnoses in the absence of a clear genetic cause. We used separate genome-wide SNP analyses to investigate five signs of AID (recurrent fever, arthritis, breed specific secondary dermatitis, otitis and systemic reactive amyloidosis) in a canine comparative model, the pure bred Chinese Shar-Pei. Analysis of 255 DNA samples revealed a shared locus on chromosome 13 spanning two peaks of association. A three-marker haplotype based on the most significant SNP (p<2.6×10?8) from each analysis showed that one haplotypic pair (H13-11) was present in the majority of AID individuals, implicating this as a shared risk factor for all phenotypes. We also noted that a genetic signature (FST) distinguishing the phenotypic extremes of the breed specific Chinese Shar-Pei thick and wrinkled skin, flanked the chromosome 13 AID locus; suggesting that breed development and differentiation has played a parallel role in the genetics of breed fitness. Intriguingly, a potential modifier locus for amyloidosis was revealed on chromosome 14, and an investigation of candidate genes from both this and the chromosome 13 regions revealed significant (p<0.05) renal differential expression in four genes previously implicated in kidney or immune health (AOAH, ELMO1, HAS2 and IL6). These results illustrate that phenotypic heterogeneity need not be a reflection of genetic heterogeneity, and that genetic modifiers of disease could be masked if syndromes were not first considered as individual clinical signs and then as a sum of their component parts.
Limited Focus on the Use of Health Care by Elderly Migrants—A Literature Review  [PDF]
Katarina Hjelm, Bj?rn Albin
Open Journal of Nursing (OJN) , 2014, DOI: 10.4236/ojn.2014.46049
Abstract:

Our premise for this literature review is the global demographic change caused by the world’s population living longer and becoming older, and extensive international migration leading to multicultural societies. Increasing age leads to health problems, often long-term or chronic, requiring investments in health care. Worse health and dissimilarities in pattern of morbidity/ mortality have been found in foreign-compared to Swedish-born persons, so it is reasonable to assume that this affects use of health care. The exploratory review focuses on elderly migrants’ (>65 years) use of healthcare. The databases Pub Med, EBSCO, CINAHL and ERIC were searched in 2000-2013. A limited number of studies were found; few had a comparative approach, most were from the USA, and focused on migrants from the former Soviet Union or countries in South-East Asia. A range of factors were identified that influence patterns of health care use: language fluency, ability to communicate, self-reported health status, prevalence of chronic disease, physical distance from care provision, availability of transport to reach care, cost of care, the health insurance system, cultural norms and values regarding different forms of care, level of education, and length of residence in the host country. Most studies treated health care from a general perspective and collected data from community and hospital settings, without analysing usage separately. Some studies indicated elderly migrants making use of health care less than other groups but the pattern is not unambiguous: other studies show that there is an overuse of health care. It is therefore difficult to show any particular pattern, or possible differences in use, regarding community versus in-patient care. Studies focusing on migrants’ actual use of health care are few and further research is needed, especially because elderly people form the largest group of users of health care and will be even larger in the future.

The IQ Motif is Crucial for Cav1.1 Function
Katarina Stroffekova
Journal of Biomedicine and Biotechnology , 2011, DOI: 10.1155/2011/504649
Abstract: Ca2
An update on the treatment of type 1 and type 2 diabetes mellitus: focus on insulin detemir, a long-acting human insulin analog
Katarina Raslova
Vascular Health and Risk Management , 2010, DOI: http://dx.doi.org/10.2147/VHRM.S10397
Abstract: n update on the treatment of type 1 and type 2 diabetes mellitus: focus on insulin detemir, a long-acting human insulin analog Review (5717) Total Article Views Authors: Katarina Raslova Published Date May 2010 Volume 2010:6 Pages 399 - 410 DOI: http://dx.doi.org/10.2147/VHRM.S10397 Katarina Raslova Metabolic Center Ltd and Slovak Medical University, Bratislava, Slovak Republic Abstract: Basal insulin analogs are used to minimize unpredictable processes of NPH insulin. Modification of the human insulin molecule results in a slower distribution to peripheral target tissues, a longer duration of action with stable concentrations and thus a lower rate of hypoglycemia. Insulin detemir is a basal insulin analog that provides effective therapeutic options for patients with type 1 and type 2 diabetes. For glycemic control, no significant differences were found in HbA1c levels compared with NPH and insulin glargine. It is comparable with insulin glargine in significantly reducing rates of all types of hypoglycemia. Clinical studies have demonstrated that detemir is responsible for significantly lower within-subject variability and no or less weight gain than NPH insulin and glargine. Recent pharmacodynamic studies have shown that detemir can be used once daily in many patients with diabetes. Together with patient-friendly injection devices and dose adjustments, it provides a treatment option with the potential to lower the key barriers of adherence to insulin therapy in type 2 diabetes. Recent guidelines for treatment of type 2 diabetes suggest starting intensive therapy of hyperglycemia at an early stage of diabetes and recommend therapeutic options that provide the possibility of reaching HbA1c goals individually, with a low risk of hypoglycemia or other adverse effects of treatment. The properties of insulin detemir match these requirements.
THE ROLE OF DIFFERENT RHEOLOGICAL MODELS IN ACCURACY OF PRESSURE LOSS PREDICTION
Katarina Simon
Rudarsko-Geolo?ko-Naftni Zbornik , 2004,
Abstract: Hydraulics play an important function in many oil field operations including drilling, completion, fracturing, acidizing, workover and production. The standard API methods for drilling fluid hydraulics assume either power law or Bingham plastic rheological model. These models and corresponding hydraulic calculations do provide a simple way for fair estimates of hydraulics for conventional vertical wells using simple drilling fluids, such as bentonite fluids. However, nowdays with many wells drilled deep, slim or horizontal using complex muds with unusual behaviour (such as tested MMH mud), it is necessary to use appropriate rheological model for mathematical modelling of fluid behaviour. Oil and gas reservoirs in Croatia have been under production for quite a while and the probability to discover new deposits of hydrocarbons is rather small. Therefore attempts have been made to maintain the gas and oil exploitation at the present level. One of possible ways to meet this target is re-entry wells drilling. The diameter of such wells in reservoir is smaller than 0,1524 m (6 in). Accurate modelling of annular pressure losses becomes therefore an important issue, particularly in cases where a small safety margin exists between optimal drilling parameters and wellbore stability, what is the case in re-entry wells. The objective of the paper is to show the influence of well geometry and accuracy of fluid rheological properties modelling to the distribution of pressure losses in a slimhole well.
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