557 research outputs found

    Development of Off-the-shelf Stent Grafts for Juxtarenal Abdominal Aortic Aneurysms

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    AbstractIntroductionThe use of EVAR for more complex aneurysm anatomy has become more widespread over the past decade. Fenestrated and branched stent grafts for the visceral and iliac segment show promising short- and midterm outcome and these procedures have become routine in many vascular centers. However, at present, such grafts are customized to the individual patient and planning and manufacturing leads to significant treatment delay subjecting the patients to the risk of rupture during the waiting period. The purpose of this report is to describe the first experience in treating juxta/suprarenal aneurysms using the first version of a new fenestrated stent graftMaterial and MethodsA fenestrated device was designed with two renal fenestrations, an SMA fenestration and a scallop for the coeliac artery. The renal arteries were designed with an inner 6 mm fenestration and an outer 15 mm diameter creating a dome to allow renal artery catheterization for a range of renal artery distribution. Seven patients with complex visceral artery anatomy were treated with customized stent grafts containing these pivot renal fenestrations.ResultsTechnical success was uniform with 100% target vessel catheterization and 0% 30-day mortality. In one case, the graft was displaced slightly during delivery resulting in a renal artery stent occlusion at 2 months postoperatively.ConclusionsThe development of a modified fenestrated device has shown this to be feasible and it has the potential to reduce the need for extensive preoperative graft customization and establishing a true off the shelf platform for juxta- and suprarenal AAA

    Is There a Relationship between Abdominal Aortic Aneurysms and Alpha1-antitrypsin Deficiency (PiZ)?

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    AbstractObjective:to determine if the frequency of α1AT deficiency (PiZ) is increased in patients with abdominal aortic aneurysm (AAA), and, to investigate whether aneurysmal stiffness and other clinical characteristics differ in AAA patients with and without α1AT deficiency.Methods:we identified α1AT-deficient individuals by a monoclonal-antibody ELISA technique, in 102 consecutive patients with AAA. Positive ELISA samples were further phenotyped by isoelectric focusing to differentiate between the heterozygosity (PiZ) and homozygosity (PiZZ) state. Aneurysmal diameter and stiffness was measured using echotracking sonography and blood pressure measurements.Results:the frequency of heterozygous α1AT deficiency (PiZ) in patients with AAA was similar to that in the general population (6.8% and 4.7%, respectively,p>0.3). The frequency of popliteal and femoral aneurysm was similar in male PiZ-carriers and non-carriers with AAA, as were age at diagnosis of AAA, aneurysmal diameter, aneurysmal stiffness, and presence of factors that may be associated with AAA (i.e. smoking, hypertension, diabetes mellitus, and family history of AAA). Occurrence of ischaemic heart disease was more frequent in male non-PiZ-carriers than in male PiZ-carriers with AAA (p=0.03).Conclusions:the frequency of α1AT deficiency (PiZ) was not increased in our series of patients with AAA and patients in whom the two disorders coexisted did not appear to have different clinical characteristics except for the lower occurrence of ischaemic heart disease among the PiZ-carriers

    Effect of non-random mating on genomic and BLUP selection schemes

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    <p>Abstract</p> <p>Background</p> <p>The risk of long-term unequal contribution of mating pairs to the gene pool is that deleterious recessive genes can be expressed. Such consequences could be alleviated by appropriately designing and optimizing breeding schemes i.e. by improving selection and mating procedures.</p> <p>Methods</p> <p>We studied the effect of mating designs, random, minimum coancestry and minimum covariance of ancestral contributions on rate of inbreeding and genetic gain for schemes with different information sources, i.e. sib test or own performance records, different genetic evaluation methods, i.e. BLUP or genomic selection, and different family structures, i.e. factorial or pair-wise.</p> <p>Results</p> <p>Results showed that substantial differences in rates of inbreeding due to mating design were present under schemes with a pair-wise family structure, for which minimum coancestry turned out to be more effective to generate lower rates of inbreeding. Specifically, substantial reductions in rates of inbreeding were observed in schemes using sib test records and BLUP evaluation. However, with a factorial family structure, differences in rates of inbreeding due mating designs were minor. Moreover, non-random mating had only a small effect in breeding schemes that used genomic evaluation, regardless of the information source.</p> <p>Conclusions</p> <p>It was concluded that minimum coancestry remains an efficient mating design when BLUP is used for genetic evaluation or when the size of the population is small, whereas the effect of non-random mating is smaller in schemes using genomic evaluation.</p

    The use of communal rearing of families and DNA pooling in aquaculture genomic selection schemes

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    <p>Abstract</p> <p>Background</p> <p>Traditional family-based aquaculture breeding programs, in which families are kept separately until individual tagging and most traits are measured on the sibs of the candidates, are costly and require a high level of reproductive control. The most widely used alternative is a selection scheme, where families are reared communally and the candidates are selected based on their own individual measurements of the traits under selection. However, in the latter selection schemes, inclusion of new traits depends on the availability of non-invasive techniques to measure the traits on selection candidates. This is a severe limitation of these schemes, especially for disease resistance and fillet quality traits.</p> <p>Methods</p> <p>Here, we present a new selection scheme, which was validated using computer simulations comprising 100 families, among which 1, 10 or 100 were reared communally in groups. Pooling of the DNA from 2000, 20000 or 50000 test individuals with the highest and lowest phenotypes was used to estimate 500, 5000 or 10000 marker effects. One thousand or 2000 out of 20000 candidates were preselected for a growth-like trait. These pre-selected candidates were genotyped, and they were selected on their genome-wide breeding values for a trait that could not be measured on the candidates.</p> <p>Results</p> <p>A high accuracy of selection, i.e. 0.60-0.88 was obtained with 20000-50000 test individuals but it was reduced when only 2000 test individuals were used. This shows the importance of having large numbers of phenotypic records to accurately estimate marker effects. The accuracy of selection decreased with increasing numbers of families per group.</p> <p>Conclusions</p> <p>This new selection scheme combines communal rearing of families, pre-selection of candidates, DNA pooling and genomic selection and makes multi-trait selection possible in aquaculture selection schemes without keeping families separately until individual tagging is possible. The new scheme can also be used for other farmed species, for which the cost of genotyping test individuals may be high, e.g. if trait heritability is low.</p

    Strategies for implementing genomic selection in family-based aquaculture breeding schemes: double haploid sib test populations

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    <p>Abstract</p> <p>Background</p> <p>Simulation studies have shown that accuracy and genetic gain are increased in genomic selection schemes compared to traditional aquaculture sib-based schemes. In genomic selection, accuracy of selection can be maximized by increasing the precision of the estimation of SNP effects and by maximizing the relationships between test sibs and candidate sibs. Another means of increasing the accuracy of the estimation of SNP effects is to create individuals in the test population with extreme genotypes. The latter approach was studied here with creation of double haploids and use of non-random mating designs.</p> <p>Methods</p> <p>Six alternative breeding schemes were simulated in which the design of the test population was varied: test sibs inherited maternal (<it>Mat</it>), paternal (<it>Pat</it>) or a mixture of maternal and paternal (<it>MatPat</it>) double haploid genomes or test sibs were obtained by maximum coancestry mating (<it>MaxC</it>), minimum coancestry mating (<it>MinC</it>), or random (<it>RAND</it>) mating. Three thousand test sibs and 3000 candidate sibs were genotyped. The test sibs were recorded for a trait that could not be measured on the candidates and were used to estimate SNP effects. Selection was done by truncation on genome-wide estimated breeding values and 100 individuals were selected as parents each generation, equally divided between both sexes.</p> <p>Results</p> <p>Results showed a 7 to 19% increase in selection accuracy and a 6 to 22% increase in genetic gain in the <it>MatPat</it> scheme compared to the <it>RAND</it> scheme. These increases were greater with lower heritabilities. Among all other scenarios, i.e. <it>Mat, Pat, MaxC</it>, and <it>MinC</it>, no substantial differences in selection accuracy and genetic gain were observed.</p> <p>Conclusions</p> <p>In conclusion, a test population designed with a mixture of paternal and maternal double haploids, i.e. the <it>MatPat</it> scheme, increases substantially the accuracy of selection and genetic gain. This will be particularly interesting for traits that cannot be recorded on the selection candidates and require the use of sib tests, such as disease resistance and meat quality.</p

    Genetic parameters of fillet fatty acids and fat deposition in gilthead seabream (Sparus aurata) using the novel 30 k Medfish SNP array

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    Lipid-related traits are important candidates for a breeding goal for gilthead seabream, because they affect both fish and human health, as well as production efficiency. However, to date there have been very few estimates of genetic parameters for these traits, and the genetic relationship between fatty acids and other important traits have never been reported for gilthead seabream. Therefore, the aim of this study was to estimate genomic heritability and genetic relationships of fat deposition traits and individual muscle fatty acids in a commercial population of gilthead seabream using the novel ~30 k MedFish SNP array. In total 967 gilthead seabream fed with a commercial feed were genotyped with the MedFish SNP chip which included ~30 K informative markers for this species. On average, the fish weighed 372 g. The mean content of eicosapentaenoic acid (EPA) + docosahexaenoic acid (DHA) was 822 mg per 100 g fillet. The heritability of muscle fat, viscera weight and percentage viscera were in the range of 0.34–0.46. The genetic correlation of body weight with muscle fat was 0.12, indicating that genetic variation in muscle fat is largely independent of the weight of the fish. The heritability of the product of endogenous fatty acid synthesis (n = 240), palmitoleic acid (16:1n-7), was high (0.43). The estimated heritability of EPA (%) and DHA (%) was 0.39 and 0.33, respectively. Both EPA and DHA had low, non-significant genetic correlations with body weight, and DHA had a negative genetic correlation with muscle fat (−0.53). It is possible to increase EPA and DHA content in gilthead seabream fillets by selective breeding. The high heritability of 16:1n-7, a marker of de novo lipogenesis, suggests that there is a strong genetic component to this metabolic pathway in gilthead seabream. Muscle fat deposition and body weight seem to be independent traits, and selective breeding for faster growth is not likely to influence the proportional content of EPA and DHA
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