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- Bianchi, Matteo, et al.
(författare)
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A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12
- 2015
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 10:8
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Tidskriftsartikel (refereegranskat)abstract
- Hypothyroidism is a complex clinical condition found in both humans and dogs, thought to be caused by a combination of genetic and environmental factors. In this study we present a multi-breed analysis of predisposing genetic risk factors for hypothyroidism in dogs using three high-risk breeds-the Gordon Setter, Hovawart and the Rhodesian Ridgeback. Using a genome-wide association approach and meta-analysis, we identified a major hypothyroidism risk locus shared by these breeds on chromosome 12 (p = 2.1x10(-11)). Further characterisation of the candidate region revealed a shared similar to 167 kb risk haplotype (4,915,018-5,081,823 bp), tagged by two SNPs in almost complete linkage disequilibrium. This breed-shared risk haplotype includes three genes (LHFPL5, SRPK1 and SLC26A8) and does not extend to the dog leukocyte antigen (DLA) class II gene cluster located in the vicinity. These three genes have not been identified as candidate genes for hypothyroid disease previously, but have functions that could potentially contribute to the development of the disease. Our results implicate the potential involvement of novel genes and pathways for the development of canine hypothyroidism, raising new possibilities for screening, breeding programmes and treatments in dogs. This study may also contribute to our understanding of the genetic etiology of human hypothyroid disease, which is one of the most common endocrine disorders in humans.
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- Bäckström, Torbjörn, 1948-, et al.
(författare)
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Pathogenesis in menstrual cycle-linked CNS disorders.
- 2003
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Ingår i: Annals of the New York Academy of Sciences. - : Wiley. - 0077-8923 .- 1749-6632. ; 1007, s. 42-53
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Forskningsöversikt (övrigt vetenskapligt/konstnärligt)
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- Egervärn, Maria, et al.
(författare)
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Escherichia coli with extended-spectrum beta-lactamases or transferable AmpC beta-lactamases and Salmonella on meat imported into Sweden
- 2014
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Ingår i: International Journal of Food Microbiology. - : Elsevier. - 0168-1605 .- 1879-3460. ; 171, s. 8-14
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Tidskriftsartikel (refereegranskat)abstract
- The presence of Enterobacteriaceae producing extended spectrum beta-lactamases (ESBL) or transferable AmpC beta-lactamases (pAmpC) is increasingly being reported in humans and animals world-wide. Their occurrence in food-producing animals suggests that meat is a possible link between the two populations. This study investigated the occurrence and characteristics of Salmonella and ESBL- or pAmpC-producing E. coli in 430 samples of beef, pork and broiler meat imported into Sweden, in order to provide data required for assessing the potential public health risk of these bacteria in food. Depending on region of origin, ESBL/pAmpC-producing E. coli were found in 0-8% of beef samples, 2-13% of pork samples and 15-95% of broiler meat samples. The highest prevalence was in South American broiler meat (95%), followed by broiler meat from Europe (excluding Denmark) (61%) and from Denmark (15%). Isolates from meat outside Scandinavia were generally defined as multiresistant. A majority of the ESBL/pAmpC genes were transferable by conjugation. Bla(CTX-M-2) and bla(CTX-M-8) were the dominant genes in E. coli from South American broiler meat, whereas bla(CMY-2) and bla(CTX-M-1) dominated in European meat. The majority of bla(CMY-2) and bla(CTX-M-1) were situated on plasmids of replicon type incK and incI1, respectively. The same combinations of ESBL/pAmpC genes and plasmids have been described previously in clinical human isolates. Salmonella was found in five samples tested, from European pork and broiler meat. No Salmonella isolate was resistant to third-generation cephalosporins. In conclusion, meat imported into Sweden, broiler meat in particular, is a potential source of human exposure to ESBL- and pAmpC-producing E. coli.
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- Egervärn, Maria, et al.
(författare)
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Unexpected common occurrence of transferable extended spectrum cephalosporinase-producing Escherichia coli in Swedish surface waters used for drinking water supply
- 2017
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Ingår i: Science of the Total Environment. - : Elsevier. - 0048-9697 .- 1879-1026. ; 587-588, s. 466-472
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Tidskriftsartikel (refereegranskat)abstract
- The presence of Enterobacteriaceae producing extended spectrum beta-lactamases (ESBL) or transferable AmpC beta-lactamases (pAmpC) is increasingly being reported in humans, food-producing animals and food world-wide. However, the occurrence and impact of these so-called extended spectrum cephalosporinase (ESC)-producing Enterobacteriaceae in aquatic environments are poorly documented. This study investigated the occurrence, concentrations and characteristics of ESC-producing E. coli (ESC-Ec) in samples of surface water collected at five Swedish water treatment plants that normally have relatively high prevalence and concentration of E. coli in surface water. ESC-Ec was found in 27 of 98 surface water samples analysed. All but two positive samples were collected at two of the water treatment plants studied. The ESC-Ec concentration, 1-3cfu/100mL, represented approximately 4% of the total amount of E. coli in the respective surface water sample. In total, 74% of the isolates were multi-resistant, but no isolate was resistant to carbapenems. Six types of ESBL/pAmpC genes were found in the 27 E. coli isolates obtained from the positive samples, of which four (blaCTX-M-15, blaCMY-2, blaCTX-M-1 and blaCTX-M-14) were found during the whole sampling period, in samples taken at more than one water treatment plant. In addition, the genes were situated on various types of plasmids and most E. coli isolates were not closely related with regard to MLST types. The combinations of ESBL/pAmpC genes, plasmids and E. coli isolates were generally similar to those found previously in healthy and sick individuals in Sweden. In conclusion, the occurrence of ESC-Ec in Swedish surface water shows that resistant bacteria of clinical concern are present in aquatic environments even in a low-prevalence country such as Sweden.
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- Karlsson, Patrick, et al.
(författare)
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Analysis of Skeletal Fibers in Three Dimensional Images : Methodological considerations
- 2007
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Ingår i: XXXVIth European Muscle Conference of the European Society for Muscle Research. ; , s. 130-
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Knowledge of the detailed three dimensional organization of nuclei in skeletal muscle fibers is of fundamental importance for the understanding of the basic mechanisms involved in muscle wasting associated with for example neuromuscular disorders and aging. An ongoing interdisciplinary collaboration between the Centre for Image Analysis (CBA), and the Muscle Research Group (MRG), both at Uppsala University, addresses the issue of spatial distribution of myonuclei using confocal microscopic techniques together with advanced methods for computerized image analysis. Performing quantitative analysis on true three dimensional volume images captured by confocal microscopy gives us the option to perform in-depth statistical analysis of the relationship between neighboring myonuclei. The three dimensional representation enables extraction of a number of features for individual myonuclei, e.g., size and shape of a nucleus, and the myonuclear domain (in which each myonucleus control the gene products). This project investigates data sets from single muscle fibers sampled from mouse, rat, pig, human, horse and rhino to determine the myonuclei arrangement between species with a 100,000 fold difference in body weight. The appropriate image analysis tools needed for gaining the understanding of organization in three dimensional volume images are developed within the project to facilitate the analysis of similarities between species, and unique features within a species. The accumulated understanding of the spatial organization of myonuclei, and the effect of individual myonuclei size, will lead to an increased knowledge of basic mechanisms underlying muscle wasting in various neuromuscular disorders. This knowledge will hopefully lead to new therapeutic strategies that can be evaluated in experimental animal models prior to clinical testing trials in patients.
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