73 research outputs found

    Imaging for Quality Control: Comparison of Systematic Video Recording to the Operative Note in Colorectal Cancer Surgery.

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    __Background:__ Oncological and functional results after colorectal cancer surgery vary considerably between hospitals and surgeons. At present, the only source of technical information about the surgical procedure is the operative note, which is subjective and omits critical information. This study aimed to evaluate the feasibility of operative video recording in demonstrating both objective information concerning the surgical procedure and surgical quality, as using a systematic approach might improve surgical performance. __Methods:__ From July 2015 through November 2015, patients aged ≥18 years undergoing elective colorectal cancer surgery were prospectively included in a single-institution trial. Video recording of key moments was performed peroperatively and analyzed for adequacy. The study cases were compared with a historic cohort. Video was compared with the operative note using the amount of adequate steps and a scoring system. __Results:__ This study compared 15 cases to 32 cases from the historic control group. Compared to the written operative note alone, significant differences in availability of information were seen in favor of video as well as using a combination of video plus the operative note. __Conclusions:__ Systematic video registration is feasible and seems to improve the availability of essential information after colorectal cancer surgery. In this respect, combining video with a traditional operative note would be the best option. A multicenter international study is being organized to further evaluate the effect of operative video capture on surgical outcomes

    A Systematic Review on the Synoptic Operative Report Versus the Narrative Operative Report in Surgery

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    Background Proper documentation is an essential part of patient safety and quality of care in the surgical field. Surgical procedures are traditionally documented in narrative operative reports which are subjective by nature and often lack essential information. This systematic review will analyze the added value of the newly emerged synoptic reporting technique in the surgical setting. Methods A systematic review was conducted to compare the completeness and the user-friendliness of the synoptic operative report to the narrative operative report. A literature search was performed in EMBASE, Ovid MEDLINE, Web of Science, Cochrane CENTRAL, and Google Scholar for studies published up to April 6, 2018. The Newcastle–Ottawa Scale was utilized for the risk of bias assessment of the included articles. PROSPERO registration number was: CRD42018093770. Results Overall and subsection completion of the operative report was higher in the synoptic operative report. The time until completion of the operative report and the data extraction time were shorter in the synoptic report. One exception was the specific details section concerning the operative procedure, as this was generally reported more frequently in the narrative report. The use of mandatory fields in the synoptic report resulted in more completely reported operative outcomes with completion percentages close to 100%. Conclusions Th

    Topological Andr\'e-Quillen homology for cellular commutative SS-algebras

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    Topological Andr\'e-Quillen homology for commutative SS-algebras was introduced by Basterra following work of Kriz, and has been intensively studied by several authors. In this paper we discuss it as a homology theory on CW SS-algebras and apply it to obtain results on minimal atomic pp-local SS-algebras which generalise those of Baker and May for pp-local spectra and simply connected spaces. We exhibit some new examples of minimal atomic SS-algebras.Comment: Final revision, a version will appear in Abhandlungen aus dem Mathematischen Seminar der Universitaet Hambur

    One Step at a Time: Step by Step Versus Continuous Video-Based Learning to Prepare Medical Students for Performing Surgical Procedures

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    OBJECTIVE: The objective of this study was to compare the effects of cognitive load and surgical performance in medical students that performed the open inguinal hernia repair after preparation with step-by-step video-demonstration versus continuous video-demonstration. Hypothetically, the step-by-step group will perceive lower extraneous load during the preparation of the surgical procedure compared to the continuous group. Subsequently, fewer errors will be

    Origin of high density seabed pockmark fields and their use in inferring bottom currents

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    Some of the highest density pockmark fields in the world have been observed on the northwest Australian continental shelf (>700/km2) where they occur in muddy, organic-rich sediment around carbonate banks and paleochannels. Here we developed a semi-automated method to map and quantify the form and density of these pockmark fields (~220,000 pockmarks) and characterise their geochemical, sedimentological and biological properties to provide insight into their formative processes. These data indicate that pockmarks formed due to the release of gas derived from the breakdown of near-surface organic material, with gas accumulation aided by the sealing properties of the sediments. Sources of organic matter include adjacent carbonate banks and buried paleochannels. Polychaetes biodiversity appears to be affected negatively by the conditions surrounding dense pockmark fields since higher biodiversity is associated with low density fields. While regional bi-directionality of pockmark scours corresponds to modelled tidal flow, localised scattering around banks suggests turbulence. This multi-scale information therefore suggests that pockmark scours can act as proxy for bottom currents, which could help to inform modelling of benthic biodiversity pattern

    Automated workflow-based exploitation of pathway databases provides new insights into genetic associations of metabolite profiles

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    Background: Genome-wide association studies (GWAS) have identified many common single nucleotide polymorphisms (SNPs) that associate with clinical phenotypes, but these SNPs usually explain just a small part of the heritability and have relatively modest effect sizes. In contrast, SNPs that associate with metabolite levels generally explain a higher percentage of the genetic variation and demonstrate larger effect sizes. Still, the discovery of SNPs associated with metabolite levels is challenging since testing all metabolites measured in typical metabolomics studies with all SNPs comes with a severe multiple testing penalty. We have developed an automated workflow approach that utilizes prior knowledge of biochemical pathways present in databases like KEGG and BioCyc to generate a smaller SNP set relevant to the metabolite. This paper explores the opportunities and challenges in the analysis of GWAS of metabolomic phenotypes and provides novel insights into the genetic basis of metabolic variation through the re-analysis of published GWAS datasets. Results: Re-analysis of the published GWAS dataset from Illig et al. (Nature Genetics, 2010) using a pathway-based workflow (http://www.myexperiment.org/packs/319.html), confirmed previously identified hits and identified a new locus of human metabolic individuality, associating Aldehyde dehydrogenase family1 L1 (ALDH1L1) with serine/glycine ratios in blood. Replication in an independent GWAS dataset of phospholipids (Demirkan et al., PLoS Genetics, 2012) identified two novel loci supported by additional literature evidence: GPAM (Glycerol-3 phosphate acyltransferase) and CBS (Cystathionine beta-synthase). In addition, the workflow approach provided novel insight into the affected pathways and relevance of some of these gene-metabolite pairs in disease development and progression. Conclusions: We demonstrate the utility of automated exploitation of background knowledge present in pathway databases for the analysis of GWAS datasets of metabolomic phenotypes. We report novel loci and potential biochemical mechanisms that contribute to our understanding of the genetic basis of metabolic variation and its relationship to disease development and progression

    An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

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    Contains fulltext : 158967.pdf (publisher's version ) (Open Access)Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub-complexes in exocyst and intraflagellar transport complexes, which we validate biochemically, and by probing structurally predicted, disruptive, genetic variants from ciliary disease patients. The landscape suggests other genetic diseases could be ciliary including 3M syndrome. We show that 3M genes are involved in ciliogenesis, and that patient fibroblasts lack cilia. Overall, this organelle-specific targeting strategy shows considerable promise for Systems Medicine

    Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

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    Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common (ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV (PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors

    The Polygenic and Monogenic Basis of Blood Traits and Diseases

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    Blood cells play essential roles in human health, underpinning physiological processes such as immunity, oxygen transport, and clotting, which when perturbed cause a significant global health burden. Here we integrate data from UK Biobank and a large-scale international collaborative effort, including data for 563,085 European ancestry participants, and discover 5,106 new genetic variants independently associated with 29 blood cell phenotypes covering a range of variation impacting hematopoiesis. We holistically characterize the genetic architecture of hematopoiesis, assess the relevance of the omnigenic model to blood cell phenotypes, delineate relevant hematopoietic cell states influenced by regulatory genetic variants and gene networks, identify novel splice-altering variants mediating the associations, and assess the polygenic prediction potential for blood traits and clinical disorders at the interface of complex and Mendelian genetics. These results show the power of large-scale blood cell trait GWAS to interrogate clinically meaningful variants across a wide allelic spectrum of human variation.</p

    Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations

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    Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at p &lt; 5 × 10−9, including 71 novel associations not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL-7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value of trans-ethnic variants in multiple populations and compared genetic architecture and the effect of natural selection on these blood phenotypes between populations. Altogether, our results for hematological traits highlight the value of a more global representation of populations in genetic studies. Delineation of the genetic architecture of hematological traits in a multi-ethnic dataset allows identification of rare variants with strong effects specific to non-European populations and improved fine mapping of GWAS variants using the trans-ethnic approach
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