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BACKGROUND AND AIMS With rising rates of inflammatory bowel diseases (IBD) in older adults, management of co-morbidities such as osteoporosis is becoming increasingly important. Hip fracture (HF) is the most serious consequence of low bone mineral quality and is associated with excess risk of mortality. For older IBD patients, there are only limited data available. Therefore, we aimed to assess the association of IBD with HF and all-cause mortality risk after HF among IBD patients older than 50 years. METHODS In a national database-registered case-control study, 56,821 HF cases aged ≥50 years and 113,718 age-, sex- and region-matched non-hip fracture controls were analyzed between 2012-2016. A history of IBD was assessed from data of Austrian social health insurance funds. Logistic regression and Cox proportional multivariate models were used to test the association of IBD with HF and post-hip fracture mortality risk. RESULTS A total of 531 patients were identified with IBD (25.0% men, mean age 81.2 years, SD 9.7). Analysis adjusted for anti-osteoporotic treatment, use of glucocorticoids and selected medications showed that IBD patients had an increased odds of HF (OR 2.22, 95%CI 1.86-2.64). Patients with Crohn's disease (CD) revealed a higher HF odds in contrast to patients with ulcerative colitis (OR 2.91, 95% CI 2.17-3.89 and OR 1.89, 95% CI 1.52-2.35, respectively). Overall mortality risk after HF was higher among female CD patients (HR 1.75, 95%CI 1.28-2.41) than in the general population. CONCLUSIONS IBD was strongly associated with HF in older patients. Post-hip fracture mortality risk was elevated particularly in women with CD. © The Author(s) 2020. Published by Oxford University Press on behalf of European Crohn’s and Colitis Organisation. All rights reserved. For permissions, please email journals.permissions@oup.com.BACKGROUND Over the past few years the variety of experimental designs and protocols for sequencing experiments increased greatly. To ensure the wide usability of the produced data beyond an individual project, rich and systematic annotation of the underlying experiments is crucial. FINDINGS We first developed an annotation structure that captures the overall experimental design as well as the relevant details of the steps from the biological sample to the library preparation, the sequencing procedure, and the sequencing and processed files. Through various design features, such as controlled vocabularies and different field requirements, we ensured a high annotation quality, comparability, and ease of annotation. The structure can be easily adapted to a large variety of species. We then implemented the annotation strategy in a user-hosted web platform with data import, query, and export functionality. CONCLUSIONS We present here an annotation structure and user-hosted platform for sequencing experiment data, suitable for lab-internal documentation, collaborations, and large-scale annotation efforts. © The Author(s) 2020. Published by Oxford University Press.CONTEXT Human height is an inheritable, polygenic trait under complex and multi-locus genetic regulation. NVP-CGM097 Familial short stature (FSS; also called genetic short stature) is the most common type of short stature and is insufficiently known. OBJECTIVE To investigate the FSS genetic profile and develop a polygenic risk predisposition score for FSS risk prediction. DESIGN AND SETTING The FSS case group of Han Chinese ancestry was diagnosed by pediatric endocrinologists in Taiwan. PATIENTS AND INTERVENTIONS The genetic profile of 1,163 FSS cases was identified by using a bootstrapping sub-sampling and genome-wide association studies (GWAS) method. MAIN OUTCOME MEASURES Genetic profile, polygenic risk predisposition score for risk prediction. RESULTS Ten novel genetic SNPs and 9 reported GWAS human height-related SNPs were identified for FSS risk. These 10 novel SNPs served as a polygenic risk predisposition score for FSS risk prediction (area under curve (AUC) 0.940 in the testing group). This FSS polygenic risk predisposition score was also associated with the height reduction regression tendency in the general population. CONCLUSION A polygenic risk predisposition score composed of 10 genetic SNPs is useful for FSS risk prediction and the height reduction tendency. Thus, it might contribute to FSS risk in the Han Chinese population from Taiwan. © Endocrine Society 2020. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.In this report, we investigated the hexopyranose chemical modification Altriol Nucleic Acid (ANA) within small interfering RNA (siRNA) duplexes that were otherwise fully modified with the 2'-deoxy-2'-fluoro and 2'-O-methyl pentofuranose chemical modifications. The siRNAs were designed to silence the transthyretin (Ttr) gene and were conjugated to a trivalent N-acetylgalactosamine (GalNAc) ligand for targeted delivery to hepatocytes. Sense and antisense strands of the parent duplex were synthesized with single ANA residues at each position on the strand, and the resulting siRNAs were evaluated for their ability to inhibit Ttr mRNA expression in vitro. Although ANA residues were detrimental at the 5' end of the antisense strand, the siRNAs with ANA at position 6 or 7 in the seed region had activity comparable to the parent. The siRNA with ANA at position 7 in the seed region was active in a mouse model. An Oligonucleotide with ANA at the 5' end was more stable in the presence of 5'-exonuclease than an oligonucleotide of the same sequence and chemical composition without the ANA modification. Modeling studies provide insight into the origins of regiospecific changes in potency of siRNAs and the increased protection against 5'-exonuclease degradation afforded by the ANA modification. © The Author(s) 2020. Published by Oxford University Press on behalf of Nucleic Acids Research.STUDY OBJECTIVES Insomnia is a common sleep disorder and constitutes a major issue in modern society. We provide new clues for revealing the association between environmental chemicals and insomnia. METHODS Three genome-wide association studies (GWAS) summary datasets of insomnia (n = 113006, n = 1331010 and n = 453379, respectively) were driven from the UK Biobank, 23andMe and deCODE. The chemical-gene interaction dataset was downloaded from the comparative toxicogenomics database (CTD). First, we conducted a meta-analysis of the three datasets of insomnia using the METAL software. Using the result of meta-analysis, transcriptome-wide association studies (TWAS) were performed to calculate the expression association testing statistics of insomnia. Then chemical related gene set enrichment analysis (GSEA) was used to explore the association between chemicals and insomnia. RESULTS For GWAS meta-analysis dataset of insomnia, we identified 42 chemicals associated with insomnia in brain tissue (P-value less then 0.

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