| 1. |
- Abreu, P., et al.
(författare)
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Measurement of the gluon fragmentation function and a comparison of the scaling violation in gluon and quark jets
- 2000
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 13:4, s. 573-589
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Tidskriftsartikel (refereegranskat)abstract
- The fragmentation functions of quarks and gluons are measured in various three-jet topologies in Z decays from the full data set collected with the DELPHI detector at the Z resonance between 1992 and 995. The results at different values of transverse momentum-like scales are compared. A parameterization of the quark and gluon fragmentation functions at a fixed reference scale is given. The quark and gluon fragmentation functions show the predicted pattern of scaling violations. The scaling violation for quark jets as a function of a transverse momentum-like scale is in a good agreement with that observed in lower energy e+e- annihilation experiments. For gluon jets it appears to be significantly stronger. The scale dependences of the gluon and quark fragmentation functions agree with the prediction of the DGLAP evolution equations from which the colour factor ratio CA/CF is measured to be: CA/CF = 2.26 ± 0.09stat. ± 0.06sys. ± 0.12clus.,scale..
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| 2. |
- Abreu, P., et al.
(författare)
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Study of dimuon production in photon-photon collisions and measurement of QED photon structure functions at LEP
- 2001
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Ingår i: European Physical Journal C. - : Springer Science and Business Media LLC. - 1434-6044 .- 1434-6052. ; 19:1, s. 15-28
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Tidskriftsartikel (refereegranskat)abstract
- Muon pair production in the process e+e- → e+e- μ+μ- is studied using the data taken at LEP1 (√s ≃ mz) with the DELPHI detector during the years 1992-1995. The corresponding integrated luminosity is 138.5 pb-1. The QED predictions have been tested over the whole Q2 range accessible at LEP1 (from several GeV2/c4 to several hundred GeV2/c4) by comparing experimental distributions with distributions resulting from Monte Carlo simulations using various generators. Selected events are used to extract the leptonic photon structure function Fγ 2. Azimuthal correlations are used to obtain information on additional structure functions, Fγ A and Fγ B, which originate from interference terms of the scattering amplitudes. The measured ratios Fγ A/Fγ 2 and FγB/Fγ 2 are significantly different from zero and consistent with QED predictions.
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| 3. |
- Schael, S, et al.
(författare)
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Precision electroweak measurements on the Z resonance
- 2006
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Ingår i: Physics Reports. - : Elsevier BV. - 0370-1573 .- 1873-6270. ; 427:5-6, s. 257-454
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Forskningsöversikt (refereegranskat)abstract
- We report on the final electroweak measurements performed with data taken at the Z resonance by the experiments operating at the electron-positron colliders SLC and LEP. The data consist of 17 million Z decays accumulated by the ALEPH, DELPHI, L3 and OPAL experiments at LEP, and 600 thousand Z decays by the SLID experiment using a polarised beam at SLC. The measurements include cross-sections, forward-backward asymmetries and polarised asymmetries. The mass and width of the Z boson, m(Z) and Gamma(Z), and its couplings to fermions, for example the p parameter and the effective electroweak mixing angle for leptons, are precisely measured: m(Z) = 91.1875 +/- 0.0021 GeV, Gamma(Z) = 2.4952 +/- 0.0023 GeV, rho(l) = 1.0050 +/- 0.0010, sin(2)theta(eff)(lept) = 0.23153 +/- 0.00016. The number of light neutrino species is determined to be 2.9840 +/- 0.0082, in agreement with the three observed generations of fundamental fermions. The results are compared to the predictions of the Standard Model (SM). At the Z-pole, electroweak radiative corrections beyond the running of the QED and QCD coupling constants are observed with a significance of five standard deviations, and in agreement with the Standard Model. Of the many Z-pole measurements, the forward-backward asymmetry in b-quark production shows the largest difference with respect to its SM expectation, at the level of 2.8 standard deviations. Through radiative corrections evaluated in the framework of the Standard Model, the Z-pole data are also used to predict the mass of the top quark, m(t) = 173(+10)(+13) GeV, and the mass of the W boson, m(W) = 80.363 +/- 0.032 GeV. These indirect constraints are compared to the direct measurements, providing a stringent test of the SM. Using in addition the direct measurements of m(t) and m(W), the mass of the as yet unobserved SM Higgs boson is predicted with a relative uncertainty of about 50% and found to be less than 285 GeV at 95% confidence level. (c) 2006 Elsevier B.V. All rights reserved.
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| 4. |
- Anedda, Francesca, et al.
(författare)
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Multiple polymorphisms affect expression and function of the neuropeptide S receptor (NPSR1)
- 2011
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Ingår i: PLOS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 6:12, s. e29523-
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Tidskriftsartikel (refereegranskat)abstract
- Background: neuropeptide S (NPS) and its receptor NPSR1 act along the hypothalamic-pituitary-adrenal axis to modulate anxiety, fear responses, nociception and inflammation. The importance of the NPS-NPSR1 signaling pathway is highlighted by the observation that, in humans, NPSR1 polymorphism associates with asthma, inflammatory bowel disease, rheumatoid arthritis, panic disorders, and intermediate phenotypes of functional gastrointestinal disorders. Because of the genetic complexity at the NPSR1 locus, however, true causative variations remain to be identified, together with their specific effects on receptor expression or function. To gain insight into the mechanisms leading to NPSR1 disease-predisposing effects, we performed a thorough functional characterization of all NPSR1 promoter and coding SNPs commonly occurring in Caucasians (minor allele frequency >0.02). Principal Findings: we identified one promoter SNP (rs2530547 [-103]) that significantly affects luciferase expression in gene reporter assays and NPSR1 mRNA levels in human leukocytes. We also detected quantitative differences in NPS-induced genome-wide transcriptional profiles and CRE-dependent luciferase activities associated with three NPSR1 non-synonymous SNPs (rs324981 [Ile107Asn], rs34705969 [Cys197Phe], rs727162 [Arg241Ser]), with a coding variant exhibiting a loss-of-function phenotype (197Phe). Potential mechanistic explanations were sought with molecular modelling and bioinformatics, and a pilot study of 2230 IBD cases and controls provided initial support to the hypothesis that different cis-combinations of these functional SNPs variably affect disease risk. Significance: these findings represent a first step to decipher NPSR1 locus complexity and its impact on several human conditions NPS antagonists have been recently described, and our results are of potential pharmacogenetic relevance.
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| 5. |
- Anthoni, Heidi, et al.
(författare)
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A locus on 2p12 containing the co-regulated MRPL19 and C2ORF3 genes is associated to dyslexia.
- 2007
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Ingår i: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 16:6, s. 667-77
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Tidskriftsartikel (refereegranskat)abstract
- DYX3, a locus for dyslexia, resides on chromosome 2p11-p15. We have refined its location on 2p12 to a 157 kb region in two rounds of linkage disequilibrium (LD) mapping in a set of Finnish families. The observed association was replicated in an independent set of 251 German families. Two overlapping risk haplotypes spanning 16 kb were identified in both sample sets separately as well as in a joint analysis. In the German sample set, the odds ratio for the most significantly associated haplotype increased with dyslexia severity from 2.2 to 5.2. The risk haplotypes are located in an intergenic region between FLJ13391 and MRPL19/C2ORF3. As no novel genes could be cloned from this region, we hypothesized that the risk haplotypes might affect long-distance regulatory elements and characterized the three known genes. MRPL19 and C2ORF3 are in strong LD and were highly co-expressed across a panel of tissues from regions of adult human brain. The expression of MRPL19 and C2ORF3, but not FLJ13391, were also correlated with the four dyslexia candidate genes identified so far (DYX1C1, ROBO1, DCDC2 and KIAA0319). Although several non-synonymous changes were identified in MRPL19 and C2ORF3, none of them significantly associated with dyslexia. However, heterozygous carriers of the risk haplotype showed significantly attenuated expression of both MRPL19 and C2ORF3, as compared with non-carriers. Analysis of C2ORF3 orthologues in four non-human primates suggested different evolutionary rates for primates when compared with the out-group. In conclusion, our data support MRPL19 and C2ORF3 as candidate susceptibility genes for DYX3.
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| 6. |
- Checchi, V., et al.
(författare)
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Wide diameter immediate post-extractive implants vs delayed placement of normal-diameter implants in preserved sockets in the molar region: 1-year postloading outcome of a randomised controlled trial
- 2017
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Ingår i: European Journal of Oral Implantology. - 1756-2406. ; 10:3, s. 263-278
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To compare the effectiveness of 6.0 to 8.0 mm-wide diameter implants, placed immediately after tooth extraction, with conventional 4.0 or 5.0 mm diameter implants placed in a preserved socket after a 4-month period of healing in the molar region. Materials and Methods: Just after extraction of one or two molar teeth, and with no vertical loss of the buccal bone in relation to the palatal wall, 100 patients requiring immediate post-extractive implants were randomly allocated to immediate placement of one or two 6.0 to 8.0 mm-wide diameter implants (immediate group; 50 patients) or for socket preservation using a porcine bone substitute covered by a resorbable collagen barrier (delayed group; 50 patients), according to a parallel group design in one centre. Bone-to-implant gaps were filled with autogenous bone retrieved with a trephine drill used to prepare the implant sites for the immediate wide diameter post-extractive implants. Four months after socket preservation, one to two 4.0 or 5.0 mm-wide delayed implants were placed. Implants were loaded 4 months after placement with fixed provisional restorations in acrylic, and replaced after 4 months by fixed, definitive, metal-ceramic restorations. Patients were followed to 1 year after loading. Outcome measures were: implant failures, complications, aesthetics assessed using the pink esthetic score (PES), peri-implant marginal bone level changes, patient satisfaction, number of appointments and surgical interventions recorded, when possible, by blinded assessors. Results: Three patients dropped out 1 year after loading from the immediate group vs six from the delayed group. Five implants out of 47 failed in the immediate group (10.6%) vs two out 44 (4.6%) in the delayed group, the difference being not statistically significant (difference in proportion = 6.0%, 95% CI: -8.8% to 20.8%, P = 0.436). In the immediate group 10 patients were affected by 10 complications, while in the delayed group four patients were affected by four complications. The difference was not statistically significant (difference in proportion = 12%, 95% CI: -2% to 26%, P = 0.084). At delivery of the definitive prostheses, 4 months after loading, the mean total PES score was 9.65 ± 1.62 and 10.44 ± 1.47 in the immediate and delayed groups, respectively. At 1 year after loading, the mean total PES score was 9.71 ± 2.71 and 10.86 ± 1.37 in the immediate and delayed groups, respectively. The Total PES score was statistically significantly better at delayed implants both at 4 months (mean difference = 0.79; 95% CI: 0.05 to 1.53; P = 0.03) and at 1 year (mean difference = 1.15; 95% CI: 0.13 to 2.17; P = 0.02). Marginal bone levels at implant insertion (after bone grafting) were 0.04 mm for immediate and 0.11 mm for delayed implants, which was statistically significantly different (mean difference = 0.07; 95% CI: 0.02 to 0.12; P < 0.0001). One year after loading, patients in the immediate group lost on average 1.06 mm and those from the delayed group 0.63 mm, the difference being statistically significant (mean difference = 0.43 mm; 95% CI: 0.15 to 0.61; P < 0.0001). All patients were fully or partially satisfied both for function and aesthetics, and would undergo the same procedure again both at 4 months and 1 year after loading. Patients from the immediate group required on average 7.48 ± 1.45 visits to the clinician and 2.14 ± 0.49 surgical interventions and to have their definitive prostheses delivered vs 10.30 ± 0.99 visits and 3.08 ± 0.40 surgical interventions for the delayed group, the difference being statistically significant (P < 0.001 for visits, and P < 0.001 for surgical interventions). Conclusions: Preliminary 1 year follow-up data suggest that immediate placement of 6.0 to 8.0 mm wide diameter implants in molar extraction sockets yielded inferior aesthetic outcomes than ridge preservation and delayed placement of conventional 4.0 to 5.0 mm diameter implants. Conflict of interest statement: This trial was partially funded by the manufacturer of the implants evaluated in his investigation (MegaGen Implant Co, Gyeongbuk, South Korea). However, data belonged to the authors and in no way did the manufacturer interfere with the conduct of the trial or the publication of its results. © Quintessenz.
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| 7. |
- De Luca, Alberto, et al.
(författare)
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On the generalizability of diffusion MRI signal representations across acquisition parameters, sequences and tissue types : Chronicles of the MEMENTO challenge
- 2021
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Ingår i: NeuroImage. - : Elsevier BV. - 1053-8119 .- 1095-9572. ; 240
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Tidskriftsartikel (refereegranskat)abstract
- Diffusion MRI (dMRI) has become an invaluable tool to assess the microstructural organization of brain tissue. Depending on the specific acquisition settings, the dMRI signal encodes specific properties of the underlying diffusion process. In the last two decades, several signal representations have been proposed to fit the dMRI signal and decode such properties. Most methods, however, are tested and developed on a limited amount of data, and their applicability to other acquisition schemes remains unknown. With this work, we aimed to shed light on the generalizability of existing dMRI signal representations to different diffusion encoding parameters and brain tissue types. To this end, we organized a community challenge - named MEMENTO, making available the same datasets for fair comparisons across algorithms and techniques. We considered two state-of-the-art diffusion datasets, including single-diffusion-encoding (SDE) spin-echo data from a human brain with over 3820 unique diffusion weightings (the MASSIVE dataset), and double (oscillating) diffusion encoding data (DDE/DODE) of a mouse brain including over 2520 unique data points. A subset of the data sampled in 5 different voxels was openly distributed, and the challenge participants were asked to predict the remaining part of the data. After one year, eight participant teams submitted a total of 80 signal fits. For each submission, we evaluated the mean squared error, the variance of the prediction error and the Bayesian information criteria. The received submissions predicted either multi-shell SDE data (37%) or DODE data (22%), followed by cartesian SDE data (19%) and DDE (18%). Most submissions predicted the signals measured with SDE remarkably well, with the exception of low and very strong diffusion weightings. The prediction of DDE and DODE data seemed more challenging, likely because none of the submissions explicitly accounted for diffusion time and frequency. Next to the choice of the model, decisions on fit procedure and hyperparameters play a major role in the prediction performance, highlighting the importance of optimizing and reporting such choices. This work is a community effort to highlight strength and limitations of the field at representing dMRI acquired with trending encoding schemes, gaining insights into how different models generalize to different tissue types and fiber configurations over a large range of diffusion encodings.
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| 8. |
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| 9. |
- Esposito, Marco, 1965, et al.
(författare)
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Four mm-long versus longer implants in augmented bone in atrophic posterior jaws: 4-month post-loading results from a multicentre randomised controlled trial
- 2016
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Ingår i: European Journal of Oral Implantology. - 1756-2406. ; 9:4, s. 393-409
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To evaluate whether 4-mm long dental implants could be an alternative to augmentation with equine bone blocks and the placement of at least 10-mm long implants in atrophic posterior jaws. Materials and methods: Forty patients with atrophic posterior (premolar and molar areas) mandibles having 5 to 6 mm bone height above the mandibular canal and 40 patients with atrophic maxillae having 4 to 5 mm below the maxillary sinus, were randomised according to a parallel group design to receive one to three 4.0 mm-long implants or one to three implants, which were at least 10 mm long, in augmented bone at two centres. All implants had a diameter of 4.0 or 4.5 mm. Mandibles were vertically augmented with interpositional equine bone blocks and resorbable barriers. Implants were placed 4 months after interpositional grafting. Maxillary sinuses were augmented with particulated porcine bone via a lateral window covered with resorbable barriers, and implants were placed simultaneously. Implants were not submerged and were loaded after 4 months with provisional prostheses. Four months later, screw-retained reinforced acrylic restorations were delivered, and then replaced after 4 months by definitive screw-retained metal-composite prostheses. Patients were followed up to 4-months post-loading. Outcome measures included prosthesis and implant failures, any complication and peri-implant marginal bone level changes. Results: No patient dropped out. In six augmented mandibles (30%), it was not possible to place implants which were at least 10.0-mm long, therefore shorter implants had to be placed instead. In particular, one mandible fractured and the patient did not want to go ahead with the treatment. One implant of the patient with the mandible fracture from the augmented group failed versus two 4.0 mm implants in two patients from the short implant group. In the maxillae, three short implants failed in two patients versus five long implants in three patients (two long implants and one short implant dropped into the maxillary sinus). Two prostheses on short implants (one mandibular and one maxillary) were placed at a later stage because of implant failures versus four prostheses (one mandibular and three maxillary) at augmented sites. In particular, three patients of the augmented group (one mandible and two maxillary) were not prosthetically rehabilitated. There were no statistically significant differences in implant failures (P (chi-square test) = 1.000; difference in proportion = 0; 95% CI:-0.13 to 0.13 or prostheses failures (P (chi-square test) = 0.399; difference in proportion = 0.05; 95% CI:-0.06 to 0.16). At mandibular sites, nine augmented patients were affected by complications versus one patient treated with short implants (P (chi-square test) = 0.003; difference in proportion = 0.40; 95% CI: 0.16 to 0.64), with the difference being statistically significant. No significant differences were found for the maxillae: eight sinus lift patients versus three patients rehabilitated with maxillary short implants were affected by complications (P (chi-square test) = 0.077; difference in proportion = 0.25; 95% CI:-0.02 to 0.52). Patients with mandibular short implants lost on average 0.40 mm of peri-implant bone at 4 months and patients with 10 mm or longer mandibular implants lost 0.52 mm. Patients with short maxillary implants lost on average 0.48 mm peri-implant bone at 4 months and patients with 10 mm or longer maxillary implants lost 0.50 mm. The difference was statistically significant in the mandibles (mean difference: -0.12 mm, 95% CI: -0.20 to -0.04, P (ANCOVA) = 0.006), but not in the maxillae (mean difference: -0.02 mm, 95% CI: -0.10 to 0.07, P (ANCOVA) = 0.711). Conclusions: Four months after loading 4.0 mm-long implants achieved similar results, if not better, than longer implants in augmented jaws, but were affected by fewer complications. Short implants might be a preferable choice to bone augmentation, especially in mandibles, since the treatment is less invasive, faster, cheaper, and associated with less morbidity; however, 5- to 10-year post-loading data is necessary before making reliable recommendations.
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| 10. |
- Esposito, Marco, 1965, et al.
(författare)
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Immediate, immediate-delayed (6 weeks) and delayed (4 months) post-extractive single implants: 1-year post-loading data from a randomised controlled trial
- 2017
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Ingår i: European Journal of Oral Implantology. - 1756-2406. ; 10:1, s. 11-26
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To compare the clinical outcome of single implants placed immediately after tooth extraction with implants placed 6 weeks after tooth extraction (immediate-delayed placement), and with implants placed after 4-month extraction and socket healing (delayed placement). Materials and methods: Two-hundred and ten (210) patients requiring a single implant-supported crown to replace a tooth to be extracted were randomised to receive immediate post-extractive implants (70 patients), immediate-delayed implants at 6 weeks (70 patients), and delayed implants after 4 months of healing (70 patients) according to a parallel group design. When needed, patients of the immediate and immediate-delayed group had the socket grafted with a bone substitute and covered with a resorbable membrane at implant placement. Sockets randomised to delayed implants were grafted in the same manner if poorly preserved or in the aesthetic areas (from second upper to second upper premolars). Implants inserted with at least 25 Ncm torque were left to heal unloaded for 4 months, whereas those inserted with less than 25 Ncm were left to heal unloaded for 6 months. Temporary crowns were delivered and were to be replaced by definitive ones after 4 months. Outcome measures were crown and implant failures, complications, peri-implant marginal bone level changes, aesthetically assessed using the pink esthetic score (PES), and patient satisfaction recorded by blinded assessors. Patients were followed up to 1 year post-loading. Results: One year after loading, three patients dropped out from the immediate group, five from the immediate-delayed group, and six from the delayed group. Four implants (6%) failed in the immediate, four (6.2%) in the immediate-delayed, and one (1.6%) from the delayed group (P (chisquare test) = 0.369). Apart from the crowns (which failed due to implant losses), no other crown had to be remade. Six immediate, six immediate-delayed and four delayed implants were affected by one complication each (P (chi-square test) = 0.792). Mean peri-implant marginal bone loss after 1 year was-0.25 +/- 0.17 mm (CI 95%-0.29; -0.20) at immediate,-0.29 +/- 0.14 mm (CI 95% -0.32; -0.25) at immediate-delayed, and-0.31 +/- 0.16 mm (Cl 95%-0.35; -0.27) at delayed placed implants (P (Kruskal-Wallis test) = 0.015). One year after loading, the mean total aesthetic score was 12.52, 12.49 and 11.78 at the immediate, immediate-delayed and delayed groups, respectively (P (Kruskal-Wallis test) < 0.001). All patients were fully satisfied both with function and aesthetics, and would undergo the same procedure again, with four exceptions (one from the immediate, one from the immediate-delayed and two from the delayed group), who were only partially satisfied with aesthetics (P = 0.785). Conclusions: No statistically significant differences for failures, complications and patient satisfaction were observed when placing single implants immediately, 6 weeks or 4 months after tooth extraction; nevertheless, failures were more frequent at immediate and immediate-delayed placed implants. Bone level changes were similar between the different procedures, but aesthetics were better results at immediate and immediate-delayed implants.
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| 11. |
- Felice, P., et al.
(författare)
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Immediate, immediate-delayed (6 weeks) and delayed (4 months) post-extractive single implants: 4-month post-loading data from a randomised controlled trial
- 2016
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Ingår i: European Journal of Oral Implantology. - 1756-2406. ; 9:3, s. 233-247
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: To compare the clinical outcome of single implants placed immediately after tooth extraction with implants placed 6 weeks after tooth extraction (immediate-delayed placement), and with implants placed after 4 months of extraction and socket healing (delayed placement). Materials and methods: Two hundred and ten patients requiring a single implant-supported crown to replace a tooth to be extracted were randomised to receive immediate post-extractive implants (70 patients), immediate-delayed implants at 6 weeks (70 patients), and delayed implants after 4 months of healing (70 patients), according to a parallel group design. When needed, patients of the immediate and immediate-delayed group had the socket grafted with a bone substitute and covered with a resorbable membrane at implant placement. Sockets randomised to delayed implants were grafted in the same manner if poorly preserved or in the aesthetic areas (from second upper to second upper premolars). Implants inserted with at least 25 Ncm torque were left to heal unloaded for 4 months, whereas those inserted with less than 25 Ncm were left to heal unloaded for 6 months. Temporary crowns were delivered and were to be replaced by definitive ones after 4 months. Outcome measures were crown and implant failures, complications, periimplant marginal bone level changes, aesthetics assessed using the pink esthetic score (PES) and patient satisfaction recorded by blinded assessors. Results: Three patients dropped out from the immediate, five from the immediate-delayed and six from the delayed group up to 4-months post-loading. Four implants (6.0%) failed in the immediate, four (6.2%) in the immediate-delayed and one (1.6%) from the delayed group (P (chi-square test) = 0.369). Apart from the crown failures due to implant losses, no other crown had to be remade. Five immediate, six immediate-delayed and three delayed implants were affected by one complication each (P (chi-square test) = 0.601). Mean peri-implant marginal bone loss after 4 months was -0.17 +/- 0.11 mm (95% CI: -0.20; -0.15) at immediate, -0.20 +/- 0.09 mm (95% CI: -0.23; -0.18) at immediate-delayed, and -0.24 +/- 0.12 mm (95% CI: -0.27; -0.21) at delayed placed implants (P (Kruskal Wallis test) = 0.006). At delivery of definitive crowns, 4 months after loading, the mean total aesthetic score was 12.48, 12.38 and 11.71 in the immediate, immediate-delayed and delayed groups, respectively (P (Kruskal Wallis test) < 0.001). All patients were fully satisfied with both function and aesthetics, and would undergo the same procedure again, with four exceptions (one from the immediate, one from the immediate-delayed and two from the delayed group), who were partially satisfied with the aesthetics (P = 0.785). Conclusions: No statistically significant differences for failures, complications and patient satisfaction were observed when placing single implants immediately, 6 weeks or four months after tooth extraction; nevertheless failures and complications were more frequent for immediate and immediate-delayed placed implants. Bone level changes were similar between the different procedures, but the aesthetics showed better results for immediate and immediate-delayed implants.
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| 12. |
- Hellquist, Anna, et al.
(författare)
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Variation in STAT4 is associated with systemic lupus erythematosus in a Finnish family cohort
- 2010
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Ingår i: Annals of the Rheumatic Diseases. - : BMJ. - 0003-4967 .- 1468-2060. ; 69:5, s. 883-886
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Tidskriftsartikel (refereegranskat)abstract
- OBJECTIVES:To investigate if 10 single nucleotide polymorphisms (SNPs) and haplotypes in the STAT4 gene, previously associated with SLE in a Swedish case-control cohort, also are associated with SLE risk in a Finnish SLE family cohort.METHOD: Genotyping was performed in 192 Finnish families, with 237 affected individuals and their healthy relatives, using the SNPstream genotyping system.RESULTS:TDT analysis provided the strongest signal of association for two linked SNPs; rs7582694 (P-value = 0.002, OR = 2.57) and rs10181656 (P-value = 0.001, OR = 2.53). We further performed haplotype association analysis using a sliding window approach which showed that the strongest association signal originates from SNPs in intron 3 of STAT4.CONCLUSION:Our results provide evidence that the main association signal for STAT4 with SLE previously reported in Caucasians is the same in the Finnish population. This is the first study that confirms the association of STAT4 with SLE in a family cohort.
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| 13. |
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| 14. |
- Kainu, Kati, et al.
(författare)
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Association of psoriasis to PGLYRP and SPRR genes at PSORS4 locus on 1q shows heterogeneity between Finnish, Swedish and Irish families.
- 2009
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Ingår i: Experimental dermatology. - : Wiley. - 1600-0625 .- 0906-6705. ; 18:2, s. 109-15
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Tidskriftsartikel (refereegranskat)abstract
- A susceptibility locus for psoriasis, PSORS4, has been mapped to chromosome 1q21 in the region of the epidermal differentiation complex. The region has been refined to a 115 kb interval around the loricrin (LOR) gene. However, no evidence of association between polymorphisms in the LOR gene and psoriasis has been found. Therefore, we have analysed association to three candidate gene clusters of the region, the S100, small proline-rich protein (SPRR) and PGLYRP (peptidoglycan recognition protein) genes, which all contain functionally interesting psoriasis candidate genes. In previous studies, the SPRR and S100 genes have shown altered expression in psoriasis. Also polymorphisms in the PGLYRP genes have shown to be associated with psoriasis. We genotyped altogether 29 single nucleotide polymorphisms (SNPs) in 255 Finnish psoriasis families and analysed association with psoriasis using transmission disequilibrium test. A five-SNP haplotype of PGLYRP SNPs associated significantly with psoriasis. There was also suggestive evidence of association to SPRR gene locus in Finnish families. To confirm the putative associations, selected SNPs were genotyped also in a family collection of Swedish and Irish patients. The families supported association to the two gene regions, but there was also evidence of allelic heterogeneity.
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| 15. |
- Matsson, Hans, et al.
(författare)
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SNP variations in the 7q33 region containing DGKI are associated with dyslexia in the Finnish and German populations.
- 2011
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Ingår i: Behavior Genetics. - : Springer Science and Business Media LLC. - 0001-8244 .- 1573-3297. ; 41:1, s. 134-40
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Tidskriftsartikel (refereegranskat)abstract
- Four genes, DYX1C1, ROBO1, DCDC2 and KIAA0319 have been studied both genetically and functionally as candidate genes for developmental dyslexia, a common learning disability in children. The identification of novel genes is crucial to better understand the molecular pathways affected in dyslectic individuals. Here, we report results from a fine-mapping approach involving linkage and association analysis in Finnish and German dyslexic cohorts. We restrict a candidate region to 0.3 Mb on chromosome 7q33. This region harbours the gene diacylglycerol kinase, iota (DGKI) which contains overlapping haplotypes associated with dyslexia in both Finnish and German sample sets.
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| 16. |
- Vetrano, Davide L., et al.
(författare)
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Triple inhaled therapy in COPD patients : determinants of prescription in primary care
- 2019
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Ingår i: Respiratory Medicine. - : Elsevier BV. - 0954-6111 .- 1532-3064. ; 154, s. 12-17
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Tidskriftsartikel (refereegranskat)abstract
- Objective: To assess the incidence and determinants of the triple inhaled therapy in chronic obstructive pulmonary disease (COPD) primary care patients.Methods: Data derived from the Health Search Database (HSD) gathering information on 700 Italian general practitioners. A cohort of COPD patients, prescribed for the first time with inhaled treatments, was followed-up between January 2002 and December 2014. The outcome was the first incident prescription of a triple inhaled therapy, namely the combination of inhaled corticosteroids (ICS), long-acting beta agonists (LABA), and long-acting muscarinic antagonists (LAMA). Cox regressions were used to test the association (hazard ratios, HR) between candidate determinants and the outcome.Results: Out of 17589 patients (mean age 71.1 +/- 11.3 years; 37.4% females), 3693 (21%) were prescribed with a triple inhaled therapy during follow-up. Older age (HR=1.79 to 2.61), current and former smoking habit (HR=1.72 and 1.66), higher GOLD stage (HR=1.45 to 2.79), the number of moderate and severe COPD exacerbations (HR=1.10 to 2.63), and heart failure (HR=1.17) resulted statistically significantly associated with an increased incident prescription of the triple inhaled therapy. Female sex (HR=0.80) and some co-morbidities (HR=0.21 to 0.87) resulted negatively associated with the outcome. Furthermore, patients initially treated with LAMA (HR=1.5) and LABA/ICS (HR=1.23) were more likely to escalate to the triple therapy, than those on LABA. Conversely, patients initially treated with ICS presented a negative hazard (HR=0.72).Conclusions: The knowledge of demographic and clinical determinants of the escalation to the triple inhaled therapy in real-world COPD patients may help clinicians to better personalize respiratory pharmacological treatments of their patients, and inform international societies that issue clinical guidelines.
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| 17. |
- Zhang, Pu, et al.
(författare)
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Expression analysis of the NLRP gene family suggests a role in human preimplantation development
- 2008
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Ingår i: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 3:7, s. e2755-
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Tidskriftsartikel (refereegranskat)abstract
- Background: The NLRP (Nucleotide-binding oligomerization domain, Leucine rich Repeat and Pyrin domain containing) family, also referred to as NALP family, is well known for its roles in apoptosis and inflammation. Several NLRPs have been indicated as being involved in reproduction as well. Methodology: We studied, using the unique human gametes and embryo materials, the expression of the NLRP family in human gametes and preimplantation embryos at different developmental stages, and compared the expression levels between normal and abnormal embryos using real-time PCR. Principal Findings: Among 14 members of the NLRP family, twelve were detected in human oocytes and preimplantation embryos, whereas seven were detected in spermatozoa. Eight NLRPs (NLRP4, 5, 8, 9, 11, 12, 13, and 14) showed a similar expression pattern: their expression levels were high in oocytes and then decreased progressively in embryos, resulting in a very low level in day 5 embryos. However, NLRP2 and NLRP7 showed a different expression pattern: their expression decreased from oocytes to the lowest level by day 3, but increased again by day 5. The expression levels of NLRP5, 9, and 12 were lower in day 1 abnormal embryos but higher in day3 and day5 arrested embryos, when compared with normal embryos at the same stages. NLRP7 was down-regulated in day 1 and day 5 abnormal embryos but over-expressed in day3 arrested embryos. Conclusions: According to our results, different NLRPs possibly work in a stage-dependent manner during human preimplantation development.
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| 18. |
- Zhang, Pu, et al.
(författare)
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Transcriptome Profiling of Human Pre-Implantation Development
- 2009
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Ingår i: PloS one. - : Public Library of Science (PLoS). - 1932-6203. ; 4:11, s. e7844-
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Preimplantation development is a crucial step in early human development. However, the molecular basis of human preimplantation development is not well known. METHODOLOGY: By applying microarray on 397 human oocytes and embryos at six developmental stages, we studied the transcription dynamics during human preimplantation development. PRINCIPAL FINDINGS: WE FOUND THAT THE PREIMPLANTATION DEVELOPMENT CONSISTED OF TWO MAIN TRANSITIONS: from metaphase-II oocyte to 4-cell embryo where mainly the maternal genes were expressed, and from 8-cell embryo to blastocyst with down-regulation of the maternal genes and up-regulation of embryonic genes. Human preimplantation development proved relatively autonomous. Genes predominantly expressed in oocytes and embryos are well conserved during evolution. SIGNIFICANCE: Our database and findings provide fundamental resources for understanding the genetic network controlling early human development.
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| 19. |
- Zucchelli, Marco, et al.
(författare)
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Association of TNFSF15 polymorphism with irritable bowel syndrome.
- 2011
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Ingår i: Gut. - London : BMJ. - 1468-3288 .- 0017-5749. ; 60:12, s. 1671-7
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Tidskriftsartikel (refereegranskat)abstract
- Irritable bowel syndrome (IBS) is the most common gastrointestinal disorder, affecting more than 10% of the general population worldwide. Although a genetic component is suspected, unambiguous susceptibility genes have so far not been identified. This study tested the hypothesis that genes contributing to epithelial barrier integrity, control of mucosal immune responses and interactions with bacteria in the gut are associated with IBS.
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| 20. |
- Zucchelli, Marco, et al.
(författare)
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Motion bias and structure distortion induced by intrinsic calibration errors
- 2008
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Ingår i: Image and Vision Computing. - : Elsevier BV. - 0262-8856 .- 1872-8138. ; 26:5, s. 639-646
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Tidskriftsartikel (refereegranskat)abstract
- This article provides an account of sensitivity and robustness of structure and motion recovery with respect to the errors in intrinsic parameters of the camera. We demonstrate both analytically and in simulation, the interplay between measurement and calibration errors and their effect on motion and structure estimates. In particular we show that the calibration errors introduce an additional bias towards the optical axis, which has opposite sign to the bias typically observed by egomotion algorithms. The overall bias causes a distortion of the resulting 3D structure, which we express in a parametric form. The analysis and experiments are carried out in the differential setting for motion and structure estimation from image velocities. While the analytical explanations are derived in the context of linear techniques for motion estimation, we verify our observations experimentally on a variety of optimal and suboptimal motion and structure estimation algorithms. The obtained results illuminate and explain the performance and sensitivity of the differential structure and motion recovery techniques in the presence of calibration errors.
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| 21. |
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| 22. |
- Zucchelli, Marco, et al.
(författare)
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PepT1 oligopeptide transporter (SLC15A1) gene polymorphism in inflammatory bowel disease
- 2009
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Ingår i: Inflammatory Bowel Diseases. - : Oxford University Press (OUP). - 1078-0998 .- 1536-4844. ; 15:10, s. 1562-1569
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Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Human polymorphisms affecting gut epithelial barrier and interactions with bacteria predispose to the inflammatory bowel diseases (IBD) Crohn's disease (CD) and ulcerative colitis (UC). The intestinal transporter PepT1, encoded by the SLC15A1 gene, mediates intracellular uptake of bacterial products that can induce inflammation and NF-kappaB activation upon binding to NOD2, a protein often mutated in CD. Hence, we tested SLC15A1 polymorphisms for association with IBD.METHODS: Twelve SLC15A1 single nucleotide polymorphisms (SNPs) were genotyped in 1783 individuals from 2 cohorts of Swedish and Finnish IBD patients and controls. An in vitro system was set up to evaluate the potential impact of SLC15A1 polymorphism on PepT1 transporter function by quantification of NOD2-mediated activation of NF-kappaB.RESULTS: The common allele (C) of a coding polymorphism (rs2297322, Ser117Asn) was associated with CD susceptibility both in Sweden and in Finland, but with genetic effects in opposite directions (risk and protection, respectively). The best evidence of association was found in both populations when the analysis was performed on individuals not carrying NOD2 common risk alleles (Sweden allelic P = 0.0007, OR 1.97, 95% confidence interval [CI] 1.34-2.92; Finland genotype P = 0.0013, OR 0.63, 95% CI 0.44-0.90). The PepT1 variant encoded by the C allele (PepT1-Ser117) was associated with reduced signaling downstream of NOD2 (P < 0.0001 compared to Pept1-Asn117).CONCLUSIONS: A functional polymorphism in the SLC15A1 gene might be of relevance to inflammation and antibacterial responses in IBD. Whether this polymorphism truly contributes to disease susceptibility needs to be further addressed, and should stimulate additional studies in other populations.
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