1,994 research outputs found
Use of information on disease diagnoses from databases for animal health economic, welfare and food safety purposes: strengths and limitations of recordings
Many animal health, welfare and food safety databases include data on clinical and test-based disease diagnoses. However, the circumstances and constraints for establishing the diagnoses vary considerably among databases. Therefore results based on different databases are difficult to compare and compilation of data in order to perform meta-analysis is almost impossible. Nevertheless, diagnostic information collected either routinely or in research projects is valuable in cross comparisons between databases, but there is a need for improved transparency and documentation of the data and the performance characteristics of tests used to establish diagnoses. The objective of this paper is to outline the circumstances and constraints for recording of disease diagnoses in different types of databases, and to discuss these in the context of disease diagnoses when using them for additional purposes, including research. Finally some limitations and recommendations for use of data and for recording of diagnostic information in the future are given. It is concluded that many research questions have such a specific objective that investigators need to collect their own data. However, there are also examples, where a minimal amount of extra information or continued validation could make sufficient improvement of secondary data to be used for other purposes. Regardless, researchers should always carefully evaluate the opportunities and constraints when they decide to use secondary data. If the data in the existing databases are not sufficiently valid, researchers may have to collect their own data, but improved recording of diagnostic data may improve the usefulness of secondary diagnostic data in the future
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Geochemical zones and environmental gradients for soils from the central Transantarctic Mountains, Antarctica
Previous studies have established links between biodiversity and soil geochemistry in the McMurdo Dry Valleys, Antarctica, where environmental gradients are important determinants of soil biodiversity. However, these gradients are not well established in the central Transantarctic Mountains, which are thought to represent some of the least hospitable Antarctic soils. We analyzed 220 samples from 11 ice-free areas along the Shackleton Glacier (∼ 85° S), a major outlet glacier of the East Antarctic Ice Sheet. We established three zones of distinct geochemical gradients near the head of the glacier (upper), its central part (middle), and at the mouth (lower). The upper zone had the highest water-soluble salt concentrations with total salt concentrations exceeding 80 000 μ g-1, while the lower zone had the lowest water-soluble N:P ratios, suggesting that, in addition to other parameters (such as proximity to water and/or ice), the lower zone likely represents the most favorable ecological habitats. Given the strong dependence of geochemistry on geographic parameters, we developed multiple linear regression and random forest models to predict soil geochemical trends given latitude, longitude, elevation, distance from the coast, distance from the glacier, and soil moisture (variables which can be inferred from remote measurements). Confidence in our random forest model predictions was moderately high with R2 values for total water-soluble salts, water-soluble N:P, ClO-4, and ClO-3 of 0.81, 0.88, 0.78, and 0.74, respectively. These modeling results can be used to predict geochemical gradients and estimate salt concentrations for other Transantarctic Mountain soils, information that can ultimately be used to better predict distributions of soil biota in this remote region
Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans
We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in cerebellar Purkinje cells. Spinocerebellar ataxia 15 (SCA15), a human autosomal dominant disorder, maps to the genomic region containing ITPR1; however, to date no causal mutations had been identified. Because ataxia is a prominent feature in Itpr1 mutant mice, we performed a series of experiments to test the hypothesis that mutation at ITPR1 may be the cause of SCA15. We show here that heterozygous deletion of the 5′ part of the ITPR1 gene, encompassing exons 1–10, 1–40, and 1–44 in three studied families, underlies SCA15 in humans
The orbit and stellar masses of the archetype colliding-wind binary WR 140
We present updated orbital elements for the Wolf-Rayet (WR) binary WR 140 (HD
193793; WC7pd + O5.5fc). The new orbital elements were derived using previously
published measurements along with 160 new radial velocity measurements across
the 2016 periastron passage of WR 140. Additionally, four new measurements of
the orbital astrometry were collected with the CHARA Array. With these
measurements, we derive stellar masses of
and . We also include a discussion of the
evolutionary history of this system from the Binary Population and Spectral
Synthesis (BPASS) model grid to show that this WR star likely formed primarily
through mass loss in the stellar winds, with only a moderate amount of mass
lost or transferred through binary interactions.Comment: 10 pages, 5 figure
Pan-cancer Alterations of the MYC Oncogene and Its Proximal Network across the Cancer Genome Atlas
Although theMYConcogene has been implicated incancer, a systematic assessment of alterations ofMYC, related transcription factors, and co-regulatoryproteins, forming the proximal MYC network (PMN),across human cancers is lacking. Using computa-tional approaches, we define genomic and proteo-mic features associated with MYC and the PMNacross the 33 cancers of The Cancer Genome Atlas.Pan-cancer, 28% of all samples had at least one ofthe MYC paralogs amplified. In contrast, the MYCantagonists MGA and MNT were the most frequentlymutated or deleted members, proposing a roleas tumor suppressors.MYCalterations were mutu-ally exclusive withPIK3CA,PTEN,APC,orBRAFalterations, suggesting that MYC is a distinct onco-genic driver. Expression analysis revealed MYC-associated pathways in tumor subtypes, such asimmune response and growth factor signaling; chro-matin, translation, and DNA replication/repair wereconserved pan-cancer. This analysis reveals insightsinto MYC biology and is a reference for biomarkersand therapeutics for cancers with alterations ofMYC or the PMN
Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas
This integrated, multiplatform PanCancer Atlas study co-mapped and identified distinguishing
molecular features of squamous cell carcinomas (SCCs) from five sites associated with smokin
Pan-Cancer Analysis of lncRNA Regulation Supports Their Targeting of Cancer Genes in Each Tumor Context
Long noncoding RNAs (lncRNAs) are commonly dys-regulated in tumors, but only a handful are known toplay pathophysiological roles in cancer. We inferredlncRNAs that dysregulate cancer pathways, onco-genes, and tumor suppressors (cancer genes) bymodeling their effects on the activity of transcriptionfactors, RNA-binding proteins, and microRNAs in5,185 TCGA tumors and 1,019 ENCODE assays.Our predictions included hundreds of candidateonco- and tumor-suppressor lncRNAs (cancerlncRNAs) whose somatic alterations account for thedysregulation of dozens of cancer genes and path-ways in each of 14 tumor contexts. To demonstrateproof of concept, we showed that perturbations tar-geting OIP5-AS1 (an inferred tumor suppressor) andTUG1 and WT1-AS (inferred onco-lncRNAs) dysre-gulated cancer genes and altered proliferation ofbreast and gynecologic cancer cells. Our analysis in-dicates that, although most lncRNAs are dysregu-lated in a tumor-specific manner, some, includingOIP5-AS1, TUG1, NEAT1, MEG3, and TSIX, synergis-tically dysregulate cancer pathways in multiple tumorcontexts
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