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https://www.readbyqxmd.com/read/29227006/major-improvement-in-the-detection-of-microsatellite-instability-in-colorectal-cancer-using-hsp110-t17-e-ice-cold-pcr
#1
Alexandre How-Kit, Antoine Daunay, Olivier Buhard, Clément Meiller, Mourad Sahbatou, Ada Collura, Alex Duval, Jean-François Deleuze
Every colorectal cancer (CRC) patient should be tested for microsatellite instability (MSI) to screen for Lynch syndrome. Evaluation of MSI status involves screening tumor DNA for the presence of somatic deletions in DNA repeats using PCR followed by fragment analysis. While this method may lack sensitivity due to the presence of a high level of germline DNA, which frequently contaminates the core of primary colon tumors, no other method developed to date is capable of modifying the standard PCR protocol to achieve improvement of MSI detection...
December 11, 2017: Human Mutation
https://www.readbyqxmd.com/read/29224140/whole-genome-bisulfite-sequencing-using-the-ovation%C3%A2-ultralow-methyl-seq-protocol
#2
Christian Daviaud, Victor Renault, Florence Mauger, Jean-François Deleuze, Jörg Tost
The analysis of genome-wide epigenomic alterations including DNA methylation has become a subject of intensive research for many complex diseases. Whole-genome bisulfite sequencing (WGBS) using next-generation sequencing technologies can be considered the gold standard for a comprehensive and quantitative analysis of cytosine methylation throughout the genome. Several approaches including tagmentation- and post bisulfite adaptor tagging (PBAT)-based WGBS have been devised. Here, we provide a detailed protocol based on a commercial kit for the preparation of libraries for WGBS from limited amounts of input DNA (50-100 ng) using the classical approach of WGBS by ligation of methylated adaptors to the fragmented DNA prior to bisulfite conversion...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29148134/in-vivo-validation-of-a-less-invasive-gastrostimulator
#3
Laurent Lonys, Anne Vanhoestenberghe, Vincent Huberty, Martin Hiernaux, Nicolas Cauche, Nicolas Julémont, Adrien Debelle, François Huberland, Vicente Acuña, Carmen Godfraind, Jacques Devière, Alain Delchambre, Pierre Mathys, Stefan Deleuze, Antoine Nonclercq
Gastrointestinal stimulator implants have recently shown promising results in helping obese patients lose weight. However, to place the implant, the patient currently needs to undergo an invasive surgical procedure. We report a less invasive procedure to stimulate the stomach with a gastrostimulator. After attempting fully endoscopic implantation, we more recently focused on a single incision percutaneous procedure. In both cases, the challenges in electronic design of the implant are largely similar. This article covers the work achieved to meet these and details the in vivo validation of a gastrostimulator aimed to be endoscopically placed and anchored to the stomach...
November 2017: Artificial Organs
https://www.readbyqxmd.com/read/29143430/power-discourse-and-resistance-poststructuralist-influences-in-nursing
#4
Dave Holmes, Marilou Gagnon
Based on our respective research programs (psychiatry, forensic psychiatry, public health, HIV/AIDS, harm reduction) this article aims to use purposely non-conventional means to present the substantial contribution of poststructuralist perspectives to knowledge development in nursing science in general and in our current research in particular. More specifically, we call on the work of Michel Foucault and Deleuze & Guattari to politicize nursing science using examples from our empirical research programs with marginal and often highly marginalized populations...
November 15, 2017: Nursing Philosophy: An International Journal for Healthcare Professionals
https://www.readbyqxmd.com/read/29130328/established-risk-factors-for-addiction-fail-to-discriminate-between-healthy-gamers-and-gamers-endorsing-dsm-5-internet-gaming-disorder
#5
Jory Deleuze, Filip Nuyens, Lucien Rochat, Stéphane Rothen, Pierre Maurage, Joël Billieux
Background and aims The DSM-5 includes criteria for diagnosing Internet gaming disorder (IGD) that are adapted from substance abuse and widely used in research and clinical contexts, although evidence supporting their validity remains scarce. This study compared online gamers who do or do not endorse IGD criteria regarding self-control-related abilities (impulsivity, inhibitory control, and decision-making), considered the hallmarks of addictive behaviors. Method A double approach was adopted to distinguish pathological from recreational gamers: The first is the classic DSM-5 approach (≥5 criteria required to endorse the IGD diagnosis), and the second consists in using latent class analysis (LCA) for IGD criteria to distinguish gamers' subgroups...
November 13, 2017: Journal of Behavioral Addictions
https://www.readbyqxmd.com/read/29128857/emotionally-laden-impulsivity-interacts-with-affect-in-predicting-addictive-use-of-online-sexual-activity-in-men
#6
Aline Wéry, Jory Deleuze, Natale Canale, Joël Billieux
The interest in studying addictive use of online sexual activities (OSA) has grown sharply over the last decade. Despite the burgeoning number of studies conceptualizing the excessive use of OSA as an addictive disorder, few have tested its relations to impulsivity, which is known to constitute a hallmark of addictive behaviors. To address this missing gap in the literature, we tested the relationships between addictive OSA use, impulsivity traits, and affect among a convenience sample of men (N=182; age, M=29...
October 16, 2017: Comprehensive Psychiatry
https://www.readbyqxmd.com/read/29111492/liquid-chromatography-electrospray-ionization-tandem-mass-spectrometry-method-for-quantitative-estimation-of-new-imiqualine-leads-with-potent-anticancer-activities-in-rat-and-mouse-plasma-application-to-a-pharmacokinetic-study-in-mice
#7
Adrien Chouchou, Bénédicte Marion, Christine Enjalbal, Céline Roques, Pierre Cuq, Pierre-Antoine Bonnet, Françoise M M Bressolle-Gomeni, Carine Deleuze-Masquéfa
Imidazoquinoxaline derivatives (imiqualines) are a new series of anticancer compounds. Two lead compounds (EAPB0203 and EAPB0503) with remarkable in vitro and in vivo activity on melanoma and T-cell lymphomas have been previously identified. The modulation of the chemical structure of the most active compound, EAPB0503, has led to the synthesis of two compounds, EAPB02302 and EAPB02303, 7 and 40 times more active than EAPB0503 against A375 human melanoma cancer cell line, respectively. The aim of this study was to develop and validate a sensitive and accurate liquid chromatography-electrospray ionization-tandem mass spectrometry method to simultaneously quantify EAPB02303 and its potential active metabolite, EAPB02302, in rat and mouse plasma...
October 24, 2017: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/29111285/reference-values-of-two-dimensional-and-m-mode-echocardiographic-measurements-as-a-function-of-body-size-in-various-equine-breeds-and-in-ponies
#8
A Al-Haidar, N Moula, A Leroux, F Farnir, S Deleuze, C Sandersen, H Amory
INTRODUCTION: The aim of this study was to establish echocardiographic reference values for the equine species using allometric regression equations based on body weight (BW) and thoracic circumference (TC). ANIMALS: A total of 239 horses or ponies were studied, including 65 warmbloods, 33 Standardbreds, 41 Thoroughbreds, 32 Arabian horses, 28 draft horses, and 40 ponies aged from 1 day to 30 years, weighing from 18 to 890 kg, with no evidence of cardiac disease...
October 27, 2017: Journal of Veterinary Cardiology: the Official Journal of the European Society of Veterinary Cardiology
https://www.readbyqxmd.com/read/29101368/mutational-signatures-reveal-the-dynamic-interplay-of-risk-factors-and-cellular-processes-during-liver-tumorigenesis
#9
Eric Letouzé, Jayendra Shinde, Victor Renault, Gabrielle Couchy, Jean-Frédéric Blanc, Emmanuel Tubacher, Quentin Bayard, Delphine Bacq, Vincent Meyer, Jérémy Semhoun, Paulette Bioulac-Sage, Sophie Prévôt, Daniel Azoulay, Valérie Paradis, Sandrine Imbeaud, Jean-François Deleuze, Jessica Zucman-Rossi
Genomic alterations driving tumorigenesis result from the interaction of environmental exposures and endogenous cellular processes. With a diversity of risk factors, liver cancer is an ideal model to study these interactions. Here, we analyze the whole genomes of 44 new and 264 published liver cancers and we identify 10 mutational and 6 structural rearrangement signatures showing distinct relationships with environmental exposures, replication, transcription, and driver genes. The liver cancer-specific signature 16, associated with alcohol, displays a unique feature of transcription-coupled damage and is the main source of CTNNB1 mutations...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29074562/expanding-the-clinical-spectrum-of-recessive-truncating-mutations-of-klhl7-to-a-bohring-opitz-like-phenotype
#10
Ange-Line Bruel, Stefania Bigoni, Joanna Kennedy, Margo Whiteford, Chris Buxton, Giulia Parmeggiani, Matt Wherlock, Geoff Woodward, Mark Greenslade, Maggie Williams, Judith St-Onge, Alessandra Ferlini, Giampaolo Garani, Elisa Ballardini, Bregje W van Bon, Rocio Acuna-Hidalgo, Axel Bohring, Jean-François Deleuze, Anne Boland, Vincent Meyer, Robert Olaso, Emmanuelle Ginglinger, Ddd Study, Jean-Baptiste Rivière, Han G Brunner, Alexander Hoischen, Ruth Newbury-Ecob, Laurence Faivre, Christel Thauvin-Robinet, Julien Thevenon
BACKGROUND: Bohring-Opitz syndrome (BOS) is a rare genetic disorder characterised by a recognisable craniofacial appearance and a typical 'BOS' posture. BOS is caused by sporadic mutations ofASXL1. However, several typical patients with BOS have no molecular diagnosis, suggesting clinical and genetic heterogeneity. OBJECTIVES: To expand the phenotypical spectrum of autosomal recessive variants of KLHL7, reported as causing Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1)-like syndrome...
October 26, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28973654/a-novel-duplication-of-prmd13-causes-north-carolina-macular-dystrophy-overexpression-of-prdm13-orthologue-in-drosophila-eye-reproduces-the-human-phenotype
#11
Gaël Manes, Willy Joly, Thomas Guignard, Vasily Smirnov, Sylvie Berthemy, Béatrice Bocquet, Isabelle Audo, Christina Zeitz, José Sahel, Chantal Cazevieille, Audrey Sénéchal, Jean-François Deleuze, Hélène Blanché-Koch, Anne Boland, Patrick Carroll, David Geneviève, Xavier Zanlonghi, Carl Arndt, Christian P Hamel, Sabine Defoort-Dhellemmes, Isabelle Meunier
In this study, we report a novel duplication causing North Carolina macular dystrophy (NCMD) identified applying whole genome sequencing performed on eight affected members of two presumed unrelated families mapping to the MCDR1 locus. In our families, the NCMD phenotype was associated with a 98.4 kb tandem duplication encompassing the entire CCNC and PRDM13 genes and a common DNase 1 hypersensitivity site. To study the impact of PRDM13 or CCNC dysregulation, we used the Drosophila eye development as a model...
November 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28929977/exposure-to-follicular-fluid-during-oocyte-maturation-and-oviductal-fluid-during-post-maturation-does-not-improve-in-vitro-embryo-production-in-the-horse
#12
Cécile Douet, Olivia Parodi, Nicola Antonio Martino, Giovanni Michele Lacalandra, Michele Nicassio, Fabrice Reigner, Stefan Deleuze, Maria Elena Dell'Aquila, Ghylène Goudet
Most wild equids and many domestic horse breeds are at risk of extinction, so there is an urgent need for genome resource banking. Embryos cryopreservation allows the preservation of genetics from male and female and is the fastest method to restore a breed. In the equine, embryo production in vitro would allow the production of several embryos per cycle. Intracytoplasmic sperm injection (ICSI) is used to generate horse embryos, but it requires expensive equipment and expertise in micromanipulation, and blastocyst development rates remain low...
September 20, 2017: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/28916716/deregulation-of-microrna-expression-in-purified-t-and-b-lymphocytes-from-patients-with-primary-sj%C3%A3-gren-s-syndrome
#13
Shu-Fang Wang-Renault, Saida Boudaoud, Gaétane Nocturne, Elodie Roche, Nelly Sigrist, Christian Daviaud, Andreas Bugge Tinggaard, Victor Renault, Jean-François Deleuze, Xavier Mariette, Jörg Tost
OBJECTIVE: MicroRNAs (miRNAs) play an important role in the pathogenesis of autoimmune diseases such as primary Sjögren's syndrome (pSS). This study is the first to investigate miRNA expression patterns in purified T and B lymphocytes from patients with pSS using a high-throughput quantitative PCR (qPCR) approach. METHODS: Two independent cohorts of both patients with pSS and controls, one for discovery and one for replication, were included in this study. CD4+ T cells and CD19+ B cells were isolated from peripheral blood mononuclear cells by magnetic microbeads and expression of miRNAs was profiled using the Exiqon Human miRNome panel I analysing 372 miRNAs...
September 15, 2017: Annals of the Rheumatic Diseases
https://www.readbyqxmd.com/read/28899624/desiring-assemblages-a-case-for-desire-over-pleasure-in-critical-drug-studies
#14
Peta Malins
While critical drug researchers have long pushed for an acknowledgement of pleasure in discourses of drug use, few have explored the alternative possibilities offered by Deleuze and Guattari's concept of desire. In this paper I map out some of the conceptual differences between pleasure and desire and explore the opportunities opened up by attending more closely to desire in critical drug studies. I suggest that while discourses of pleasure do make an important intervention into and against dominant narratives of risk, harm, and addiction, they may inadvertently be working to keep in place the very binaries and forms of neoliberal western subjectivity that support those narratives...
September 9, 2017: International Journal on Drug Policy
https://www.readbyqxmd.com/read/28881789/pulmonary-endothelial-cell-dna-methylation-signature-in-pulmonary-arterial-hypertension
#15
Aurélie Hautefort, Julie Chesné, Jens Preussner, Soni S Pullamsetti, Jorg Tost, Mario Looso, Fabrice Antigny, Barbara Girerd, Marianne Riou, Saadia Eddahibi, Jean-François Deleuze, Werner Seeger, Elie Fadel, Gerald Simonneau, David Montani, Marc Humbert, Frédéric Perros
Pulmonary arterial hypertension (PAH) is a severe and incurable pulmonary vascular disease. One of the primary origins of PAH is pulmonary endothelial dysfunction leading to vasoconstriction, aberrant angiogenesis and smooth muscle cell proliferation, endothelial-to-mesenchymal transition, thrombosis and inflammation. Our objective was to study the epigenetic variations in pulmonary endothelial cells (PEC) through a specific pattern of DNA methylation. DNA was extracted from cultured PEC from idiopathic PAH (n = 11), heritable PAH (n = 10) and controls (n = 18)...
August 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28866378/association-of-impaired-renal-function-with-venous-thrombosis-a-genetic-risk-score-approach
#16
Romain Charmet, Astrid van Hylckama Vlieg, Marine Germain, Ronan Roussel, Michel Marre, Stéphanie Debette, Philippe Amouyel, Jean-François Deleuze, Samy Hadjadj, Frits R Rosendaal, Pierre-Emmanuel Morange, David-Alexandre Trégouët
OBJECTIVE: The association between impaired kidney function and venous thrombosis has been previously reported but supportive data are still sparse. We here wish to strengthen this association by investigating, by use of a genetic risk score approach, whether single nucleotide polymorphisms (SNPs) known to decrease the estimated glomerular filtration rate (eGFR), a surrogate marker for renal dysfunction, are associated with increased risk of venous thrombosis. APPROACH AND RESULTS: Fifty-one polymorphisms selected from the literature to robustly associate with eGFR were first tested for association with venous thrombosis in a French case-control collection of 1953 patients and 2338 healthy individuals...
August 25, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/28843487/stat3-mediates-nilotinib-response-in-kit-altered-melanoma-a-phase-ii-multicenter-trial-of-the-french-skin-cancer-network
#17
Julie Delyon, Sylvie Chevret, Thomas Jouary, Sophie Dalac, Stephane Dalle, Bernard Guillot, Jean-Philippe Arnault, Marie-Françoise Avril, Christophe Bedane, Guido Bens, Anne Pham-Ledard, Sandrine Mansard, Florent Grange, Laurent Machet, Nicolas Meyer, Delphine Legoupil, Philippe Saiag, Zakia Idir, Victor Renault, Jean-François Deleuze, Elif Hindie, Maxime Battistella, Nicolas Dumaz, Samia Mourah, Celeste Lebbe
Mutated oncogenic KIT is a therapeutic target in melanoma. We conducted a multicenter phase II trial on the KIT inhibitor nilotinib in patients with unresectable melanomas harboring KIT alteration. The primary endpoint was the response rate (complete response (CR) or partial response (PR) following RECIST criteria) at 6 months. Pharmacodynamic studies using KIT sequencing, qPCR array and immunostaining of downstream KIT effectors were performed during treatment. Twenty-five patients were included and received 400 mg oral nilotinib twice daily...
August 23, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28830573/assessment-of-the-prognostic-role-of-a-94-single-nucleotide-polymorphisms-risk-score-in-early-breast-cancer-in-the-signal-phare-prospective-cohort-no-correlation-with-clinico-pathological-characteristics-and-outcomes
#18
Elsa Curtit, Xavier Pivot, Julie Henriques, Sophie Paget-Bailly, Pierre Fumoleau, Maria Rios, Hervé Bonnefoi, Thomas Bachelot, Patrick Soulié, Christelle Jouannaud, Hugues Bourgeois, Thierry Petit, Isabelle Tennevet, David Assouline, Marie-Christine Mathieu, Jean-Philippe Jacquin, Sandrine Lavau-Denes, Ariane Darut-Jouve, Jean-Marc Ferrero, Carole Tarpin, Christelle Lévy, Valérie Delecroix, Véronique Trillet-Lenoir, Oana Cojocarasu, Jérôme Meunier, Jean-Yves Pierga, Pierre Kerbrat, Céline Faure-Mercier, Hélène Blanché, Mourad Sahbatou, Anne Boland, Delphine Bacq, Céline Besse, Gilles Thomas, Jean-François Deleuze, Iris Pauporté, Gilles Romieu, David G Cox
BACKGROUND: Genome-wide association studies (GWAS) have to date identified 94 genetic variants (single nucleotide polymorphisms (SNPs)) associated with risk of developing breast cancer. A score based on the combined effect of the 94 risk alleles can be calculated to measure the global risk of breast cancer. We aimed to test the hypothesis that the 94-SNP-based risk score is associated with clinico-pathological characteristics, breast cancer subtypes and outcomes in early breast cancer...
August 22, 2017: Breast Cancer Research: BCR
https://www.readbyqxmd.com/read/28818389/common-and-variable-clinical-histological-and-imaging-findings-of-recessive-ryr1-related-centronuclear-myopathy-patients
#19
Osorio Abath Neto, Cristiane de Araújo Martins Moreno, Edoardo Malfatti, Sandra Donkervoort, Johann Böhm, Júlio Brandão Guimarães, A Reghan Foley, Payam Mohassel, Jahannaz Dastgir, Diana Xerxes Bharucha-Goebel, Soledad Monges, Fabiana Lubieniecki, James Collins, Līvija Medne, Mariarita Santi, Sabrina Yum, Brenda Banwell, Emmanuelle Salort-Campana, John Rendu, Julien Fauré, Uluc Yis, Bruno Eymard, Chrystel Cheraud, Raphaël Schneider, Julie Thompson, Xaviere Lornage, Lilia Mesrob, Doris Lechner, Anne Boland, Jean-François Deleuze, Umbertina Conti Reed, Acary Souza Bulle Oliveira, Valérie Biancalana, Norma B Romero, Carsten G Bönnemann, Jocelyn Laporte, Edmar Zanoteli
Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder...
November 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28815885/novel-landscape-of-hla-g-isoforms-expressed-in-clear-cell-renal-cell-carcinoma-patients
#20
Diana Tronik-Le Roux, Julie Renard, Jérôme Vérine, Victor Renault, Emmanuel Tubacher, Joel LeMaoult, Nathalie Rouas-Freiss, Jean-François Deleuze, François Desgrandschamps, Edgardo D Carosella
Immune checkpoints are powerful inhibitory molecules that promote tumor survival. Their blockade is now recognized as providing effective therapeutic benefit against cancer. Human leukocyte antigen G (HLA-G), a recently identified immune checkpoint, has been detected in many types of primary tumors and metastases, in malignant effusions as well as on tumor-infiltrating cells, particularly in patients with clear cell renal cell carcinoma (ccRCC). Here, in order to define a possible anticancer therapy, we used a molecular approach based on an unbiased strategy that combines transcriptome determination and immunohistochemical labeling, to analyze in-depth the HLA-G isoforms expressed in these tumors...
November 2017: Molecular Oncology
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