| 551. |
- Lebwohl, Benjamin, et al.
(författare)
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Use of proton pump inhibitors and subsequent risk of celiac disease
- 2014
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Ingår i: Digestive and Liver Disease. - : Elsevier BV. - 1590-8658 .- 1878-3562. ; 46:1, s. 36-40
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Tidskriftsartikel (refereegranskat)abstract
- Background: The prevalence of celiac disease and the use of medications that inhibit acid secretion have both increased in recent decades. Aim: To explore the association between antisecretory medication exposure and subsequent development of celiac disease. Methods: In this population-based case control study, we identified patients with celiac disease diagnosed at all pathology departments in Sweden from July 2005 through February 2008. Patients were matched by age and gender with up to 5 controls. We identified prior prescriptions for proton pump inhibitors and histamine-2 receptor antagonists in all subjects. We used conditional logistic regression to measure the association between these prescriptions and the subsequent diagnosis of celiac disease. Results: Prior proton pump inhibitor prescription was strongly associated with celiac disease (OR 4.79; 95% CI 4.17-5.51). Patients prescribed both proton pump inhibitors and histamine-2 receptor antagonists had a higher risk of celiac disease (OR 5.96; 95% CI 3.58-9.91) than those prescribed proton pump inhibitors alone (OR 4.91; 95% CI 4.26-5.66) or histamine-2 receptor antagonists alone (OR 4.16; 95% CI 2.89-5.99). Conclusions: Exposure to antisecretory medications is associated with a subsequent diagnosis of celiac disease. The persistence of this association after excluding prescriptions in the year preceding the celiac disease diagnosis suggests a causal relationship. (C) 2013 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
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| 552. |
- Lentini, Antonio, et al.
(författare)
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A reassessment of DNA-immunoprecipitation-based genomic profiling
- 2018
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Ingår i: Nature Methods. - : NATURE PUBLISHING GROUP. - 1548-7091 .- 1548-7105. ; 15:7, s. 499-
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Tidskriftsartikel (refereegranskat)abstract
- DNA immunoprecipitation followed by sequencing (DIP-seq) is a common enrichment method for profiling DNA modifications in mammalian genomes. However, the results of independent DIP-seq studies often show considerable variation between profiles of the same genome and between profiles obtained by alternative methods. Here we show that these differences are primarily due to the intrinsic affinity of IgG for short unmodified DNA repeats. This pervasive experimental error accounts for 50-99% of regions identified as enriched for DNA modifications in DIP-seq data. Correction of this error profoundly altered DNA-modification profiles for numerous cell types, including mouse embryonic stem cells, and subsequently revealed novel associations among DNA modifications, chromatin modifications and biological processes. We conclude that both matched input and IgG controls are essential in order for the results of DIP-based assays to be interpreted correctly, and that complementary, non-antibody-based techniques should be used to validate DIP-based findings to avoid further misinterpretation of genome-wide profiling data.
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| 553. |
- Lindblad-Toh, Kerstin, et al.
(författare)
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A high-resolution map of human evolutionary constraint using 29 mammals
- 2011
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 478:7370, s. 476-482
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Tidskriftsartikel (refereegranskat)abstract
- The comparison of related genomes has emerged as a powerful lens for genome interpretation. Here we report the sequencing and comparative analysis of 29 eutherian genomes. We confirm that at least 5.5% of the human genome has undergone purifying selection, and locate constrained elements covering similar to 4.2% of the genome. We use evolutionary signatures and comparisons with experimental data sets to suggest candidate functions for similar to 60% of constrained bases. These elements reveal a small number of new coding exons, candidate stop codon readthrough events and over 10,000 regions of overlapping synonymous constraint within protein-coding exons. We find 220 candidate RNA structural families, and nearly a million elements overlapping potential promoter, enhancer and insulator regions. We report specific amino acid residues that have undergone positive selection, 280,000 non-coding elements exapted from mobile elements and more than 1,000 primate-and human-accelerated elements. Overlap with disease-associated variants indicates that our findings will be relevant for studies of human biology, health and disease.
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| 554. |
- Lindemann, K., et al.
(författare)
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First-line treatment of advanced ovarian cancer with paclitaxel/carboplatin with or without epirubicin (TEC versus TC)-a gynecologic cancer intergroup study of the NSGO, EORTC GCG and NCIC CTG
- 2012
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Ingår i: Annals of Oncology. - : Elsevier BV. - 1569-8041 .- 0923-7534. ; 23:10, s. 31-2613
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Tidskriftsartikel (refereegranskat)abstract
- Background: The addition of anthracyclines to platinum-based chemotherapy may provide benefit in survival in ovarian cancer patients. We evaluated the effect on survival of adding epirubicin to standard carboplatin and paclitaxel. Patients and methods: We carried out a prospectively randomized phase III study comparing carboplatin plus paclitaxel (TC; area under the curve 5 and 175 mg/m(2)) with the same combination and epirubicin (TEC; 75 mg/m(2) i.v.). Between March 1999 and August 2001, 887 patients with epithelial ovarian, tubal or peritoneal cancer International Federation of Gynecology and Obstetrics stages IIB-IV were randomized to receive either TC (442 patients) or TEC (445 patients). Results: Median time to progression was 16.4 months in the TEC arm and 16.0 months in the TC arm (hazard ratio 0.99; 95% confidence interval [CI]: 0.9-1.2). Median overall survival time was 42.4 months for the TEC arm and 40.2 for the TC arm (hazard ratio 0.96; 95% CI: 0.8-1.1). Grade 3/4 hematologic toxic effects and most grade 3/4 non-hematologic toxic effects were more frequent in the TEC arm. Accordingly, a quality-of-life analysis showed inferiority of TEC versus TC. Conclusion: The addition of epirubicin to standard carboplatin and paclitaxel treatment did not improve survival in patients with advanced ovarian, tubal or peritoneal cancer.
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| 555. |
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| 556. |
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| 557. |
- Ljung, R., et al.
(författare)
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Antenatal diagnosis of haemophilia B by amplification and electrophoresis of an exon fragment with a short deletion
- 1992
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Ingår i: European Journal of Haematology. - 0902-4441. ; 49:4, s. 215-218
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Tidskriftsartikel (refereegranskat)abstract
- Cartier identification and antenatal diagnosis were performed in 2 sisters by electrophoretic separation of the normal and abnormal bands obtained after amplification of a fragment of exon h in the factor IX gene. The mutation in the family had been characterised as an 8-base pair (bp) deletion in exon h. By amplification of a 326 bp fragment containing the site of deletion, the shorter 318 bp band of the haemophilia B gene could be separated by electrophoresis of the fragments. The comprehensive data collection at the Haemophila Centre is of vital importance in the genetic counselling of haemophilia families, and was a crucial step for the successful diagnoses in these sisters.
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| 558. |
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| 559. |
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| 560. |
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