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https://www.readbyqxmd.com/read/30297699/correction-mapping-the-genomic-landscape-of-inherited-retinal-disease-genes-prioritizes-genes-prone-to-coding-and-noncoding-copy-number-variations
#1
Kristof Van Schil, Sarah Naessens, Stijn Van de Sompele, Marjolein Carron, Alexander Aslanidis, Caroline Van Cauwenbergh, Anja K Mayer, Mattias Van Heetvelde, Miriam Bauwens, Hannah Verdin, Frauke Coppieters, Michael E Greenberg, Marty G Yang, Marcus Karlstetter, Thomas Langmann, Katleen De Preter, Susanne Kohl, Timothy J Cherry, Bart P Leroy, Elfride De Baere
The original version of this Article contained an error in the spelling of the author Anja K. Mayer, which was incorrectly given as Anja Kathrin Mayer. This has now been corrected in both the PDF and HTML versions of the Article.
October 8, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/30295695/starting-the-fight-in-the-tumor-expert-recommendations-for-the-development-of-human-intratumoral-immunotherapy-hit-it
#2
A Marabelle, R Andtbacka, K Harrington, I Melero, R Leidner, T de Baere, C Robert, P A Ascierto, J-F Baurain, M Imperiale, S Rahimian, D Tersago, E Klumper, M Hendriks, R Kumar, M Stern, K Öhrling, C Massacesi, I Tchakov, A Tse, J-Y Douillard, J Tabernero, J Haanen, J Brody
A European Society for Medical Oncology (ESMO)-sponsored expert meeting was held in Paris on 08 March 2018 which comprised 11 experts from academia, 11 experts from the pharmaceutical industry and two clinicians who were representatives of ESMO. The focus of the meeting was exclusively on the intratumoral injection/delivery of immunostimulatory agents with the aim of harmonizing the standard terms and methodologies used in the reporting of human intratumoral immunotherapy (HIT-IT) clinical trials to ensure quality assurance and avoid a blurring of the data reported from different studies...
October 8, 2018: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/30223224/image-guided-tumour-biopsies-in-a-prospective-molecular-triage-study-moscato-01-what-are-the-real-risks
#3
Clara Prud'homme, Fréderic Deschamps, Adrien Allorant, Christophe Massard, Antoine Hollebecque, Steve Yevich, Maud Ngo-Camus, Guillaume Gravel, Claudio Nicotra, Stefan Michiels, Jean-Yves Scoazec, Ludovic Lacroix, Eric Solary, Jean-Charles Soria, Thierry De Baere, Lambros Tselikas
PURPOSE: To evaluate efficacy, complications and preprocedural risk factors for percutaneous image-guided core needle biopsy of malignant tumours for genomic tumour analysis. MATERIALS AND METHODS: Procedural data for core biopsies performed at a single centre for the MOSCATO-01 clinical trial were prospectively recorded between December 2011 and March 2016. Data assessed included patient demographics, tumour characteristics, procedural outcomes and complications...
September 14, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/30143031/radiofrequency-ablation-of-stage-ia-non-small-cell-lung-cancer-in-patients-ineligible-for-surgery-results-of-a-prospective-multicenter-phase-ii-trial
#4
J Palussière, F Chomy, M Savina, F Deschamps, J Y Gaubert, A Renault, O Bonnefoy, F Laurent, C Meunier, C Bellera, S Mathoulin-Pelissier, T de Baere
BACKGROUND: A prospective multicenter phase II trial to evaluate the survival outcomes of percutaneous radiofrequency ablation (RFA) for patients with stage IA non-small cell lung cancer (NSCLC), ineligible for surgery. METHODS: Patients with a biopsy-proven stage IA NSCLC, staging established by a positron emission tomography-computed tomography (PET-CT), were eligible. The primary objective was to evaluate the local control of RFA at 1-year. Secondary objectives were 1- and 3-year overall survival (OS), 3-year local control, lung function (prior to and 3 months after RFA) and quality of life (prior to and 1 month after RFA)...
August 24, 2018: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/30105367/the-spectrum-of-structural-and-functional-abnormalities-in-female-carriers-of-pathogenic-variants-in-the-rpgr-gene
#5
Mays Talib, Mary J van Schooneveld, Caroline Van Cauwenbergh, Jan Wijnholds, Jacoline B Ten Brink, Ralph J Florijn, Nicoline E Schalij-Delfos, Gislin Dagnelie, Maria M van Genderen, Elfride De Baere, Magda A Meester-Smoor, Julie De Zaeytijd, Frans P M Cremers, L Ingeborgh van den Born, Alberta A Thiadens, Carel B Hoyng, Caroline C Klaver, Bart P Leroy, Arthur A Bergen, Camiel J F Boon
Purpose: The purpose of this study was to investigate the phenotype and long-term clinical course of female carriers of RPGR mutations. Methods: This was a retrospective cohort study of 125 heterozygous RPGR mutation carriers from 49 families. Results: Eighty-three heterozygotes were from retinitis pigmentosa (RP) pedigrees, 37 were from cone-/cone-rod dystrophy (COD/CORD) pedigrees, and 5 heterozygotes were from pedigrees with mixed RP/CORD or unknown diagnosis...
August 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/30081865/postoperative-hepatic-arterial-chemotherapy-in-high-risk-patients-as-adjuvant-treatment-after-resection-of-colorectal-liver-metastases-a-randomized-phase-ii-iii-trial-pacha-01-nct02494973
#6
Diane Goéré, Jean-Pierre Pignon, Maximiliano Gelli, Dominique Elias, Léonor Benhaim, Frédéric Deschamps, Caroline Caramella, Valérie Boige, Michel Ducreux, Thierry de Baere, David Malka
BACKGROUND: After curative-intent surgery for colorectal liver metastases (CRLM), liver recurrence occurs in more than 60% of patients, despite the administration of perioperative or adjuvant chemotherapy. This risk is even higher after resection of more than three CRLM. As CRLM are mostly supplied by arterial blood flow, hepatic arterial infusion (HAI) of chemotherapeutic agents after resection of CRLM is an attractive approach. Oxaliplatin-based HAI chemotherapy, in association with systemic fluoropyrimidines, has been shown to be safe and highly active in patients with CRLM...
August 6, 2018: BMC Cancer
https://www.readbyqxmd.com/read/30080950/mutations-in-the-gene-pde6c-encoding-the-catalytic-subunit-of-the-cone-photoreceptor-phosphodiesterase-in-patients-with-achromatopsia
#7
Nicole Weisschuh, Katarina Stingl, Isabelle Audo, Saskia Biskup, Béatrice Bocquet, Kari Branham, Marie S Burstedt, Elfride De Baere, Meindert J De Vries, Irina Golovleva, Andrew Green, John Heckenlively, Bart P Leroy, Isabelle Meunier, Elias Traboulsi, Bernd Wissinger, Susanne Kohl
Biallelic PDE6C mutations are a known cause for rod monochromacy, better known as autosomal recessive achromatopsia (ACHM), and early-onset cone photoreceptor dysfunction. PDE6C encodes the catalytic α'-subunit of the cone photoreceptor phosphodiesterase, thereby constituting an essential part of the phototransduction cascade. Here, we present the results of a study comprising 176 genetically preselected patients who remained unsolved after Sanger sequencing of the most frequent genes accounting for ACHM, and were subsequently screened for exonic and splice site variants in PDE6C applying a targeted next generation sequencing approach...
October 2018: Human Mutation
https://www.readbyqxmd.com/read/30054018/serological-monitoring-on-milk-and-serum-samples-in-a-bvd-eradication-program-a-field-study-in-belgium-showing-antibody-elisa-performances-and-epidemiological-aspects
#8
Jean-Baptiste Hanon, Miet De Baere, Camille de la Ferté, Sophie Roelandt, Gilles Guillot, Yves Van der Stede, Brigitte Cay
In a cross-sectional field study involving 51 cattle herds in Belgium, 3159 serum samples and 557 individual milk samples were collected and tested by four different commercial antibody (Ab) ELISAs on serum and two Ab ELISAs on milk. A virus neutralization test (VNT) was performed on serum samples with discording ELISA results and on all samples from non-vaccinating herds. An epidemiological survey was carried out in the same herds to collect information about herd characteristics, management practices, BVD vaccination and BVD infection status...
July 24, 2018: Preventive Veterinary Medicine
https://www.readbyqxmd.com/read/30016205/in-vitro-model-to-assess-the-adsorption-of-oral-veterinary-drugs-to-mycotoxin-binders-in-a-feed-and-aflatoxin-b1-containing-buffered-matrix
#9
Siegrid De Baere, Thomas De Mil, Gunther Antonissen, Mathias Devreese, Siska Croubels
Mycotoxin binders are feed additives which are mixed in the feed to adsorb mycotoxins and thereby reducing their toxic effects on animals. Interactions with orally administered veterinary medicinal products, such as antimicrobials or coccidiostats, have been reported previously. This paper describes an in vitro model to screen the interaction between mycotoxin binders and veterinary drugs with respect to the non-specific binding of drugs. It is designed as a static setup using a single concentration of drug and binder in a feed-containing or a feed-plus-mycotoxin-containing matrix, buffered at different pH values...
September 2018: Food Additives & Contaminants. Part A, Chemistry, Analysis, Control, Exposure & Risk Assessment
https://www.readbyqxmd.com/read/30014885/peritoneal-and-extraperitoneal-relapse-after-previous-curative-treatment-of-peritoneal-metastases-from-colorectal-cancer-what-survival-can-we-expect
#10
Maximiliano Gelli, Janina F L Huguenin, Thierry de Baere, Léonor Benhaim, Antoine Mariani, Valerie Boige, David Malka, Isabelle Sourouille, Michel Ducreux, Dominique Elias, Diane Goéré
INTRODUCTION: Over the last 20 years, complete cytoreductive surgery (CRS) combined with hyperthermic intraperitoneal chemotherapy (HIPEC) dramatically increased the survival of patients with colorectal peritoneal metastases (CRPM). However, despite better knowledge of the disease, around 70% of patients relapse after CRS with HIPEC. This study was designed to analyse the pattern of recurrence and the outcomes of different treatment modalities. METHODS: Patients relapsing after CRS plus HIPEC for CRPM were selected from a prospective database...
September 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29995221/a-variety-of-alu-mediated-copy-number-variations-can-underlie-il-12r%C3%AE-1-deficiency
#11
Jérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, Hannah Verdin, Stéphane Marot, Garyfallia Syridou, Mahboubeh Mansouri, S Alireza Mahdaviani, Edna Venegas-Montoya, Maria Tsolia, Mehrnaz Mesdaghi, Liudmyla Chernyshova, Yuriy Stepanovskiy, Nima Parvaneh, Davood Mansouri, Sigifredo Pedraza-Sánchez, Anastasia Bondarenko, Sara E Espinosa-Padilla, Marco A Yamazaki-Nakashimada, Alejandro Nieto-Patlán, Gaspard Kerner, Nathalie Lambert, Corinne Jacques, Emilie Corvilain, Mélanie Migaud, Virginie Grandin, María T Herrera, Fabienne Jabot-Hanin, Stéphanie Boisson-Dupuis, Capucine Picard, Patrick Nitschke, Anne Puel, Frederic Tores, Laurent Abel, Lizbeth Blancas-Galicia, Elfride De Baere, Christine Bole-Feysot, Jean-Laurent Casanova, Jacinta Bustamante
PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions found in the heterozygous or homozygous state. We searched for novel families with IL-12Rβ1 deficiency due to CNVs...
July 11, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29991495/ten-year-outcome-of-patients-with-acute-myeloid-leukemia-not-treated-with-allogeneic-transplantation-in-first-complete-remission
#12
Sumithira Vasu, Jessica Kohlschmidt, Krzysztof Mrózek, Ann-Kathrin Eisfeld, Deedra Nicolet, Lisa J Sterling, Heiko Becker, Klaus H Metzeler, Dimitrios Papaioannou, Bayard L Powell, Jonathan E Kolitz, Joseph O Moore, Maria R Baer, Gail J Roboz, Richard M Stone, John C Byrd, Andrew J Carroll, Clara D Bloomfield
The probability that adult patients with de novo acute myeloid leukemia (AML) receiving intensive chemotherapy in the absence of allogeneic hematopoietic stem cell transplantation (Allo-HCT) in first complete remission (CR1) will be disease-free at 10 years after diagnosis, a long-term surrogate of cure, is unknown. To address this question, we examined 2551 AML patients (1607 aged <60 years, and 944 aged ≥60 years) enrolled in Cancer and Leukemia Group B treatment protocols and the cytogenetics companion protocol 8461 between 1983 and 2004...
July 10, 2018: Blood Advances
https://www.readbyqxmd.com/read/29970927/incidental-or-secondary-findings-an-integrative-and-patient-inclusive-approach-to-the-current-debate
#13
Marlies Saelaert, Heidi Mertes, Elfride De Baere, Ignaas Devisch
Incidental or secondary findings (ISFs) in whole exome or whole genome sequencing have been widely debated in recent literature. The American College of Medical Genetics and Genomics' recommendations on diagnostic ISFs have strongly catalyzed the discussion, resulting in worldwide reactions and a variety of international guidelines. This article will outline how propositions on levels of terminology, policy, and underlying values are still internationally criticized and adjusted. Unsolved questions regarding ISFs include a suitable terminology, adequate counseling or informed consent procedures, opt-out possibilities, reporting ISFs to (parents of) minors and values regarding professional duty, patient autonomy, and actionability...
October 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29700977/polymer-nanosheet-containing-star-like-copolymers-a-novel-scalable-controlled-release-system
#14
Peng-Fei Cao, Al de Leon, Lihan Rong, Ke-Zhen Yin, Eric C Abenojar, Zhe Su, Brylee David B Tiu, Agata A Exner, Eric Baer, Rigoberto C Advincula
Poly(ε-caprolactone) (PCL)-based nanomaterials, such as nanoparticles and liposomes, have exhibited great potential as controlled release systems, but the difficulties in large-scale fabrication limit their practical applications. Among the various methods being developed to fabricate polymer nanosheets (PNSs) for different applications, such as Langmuir-Blodgett technique and layer-by-layer assembly, are very effort consuming, and only a few PNSs can be obtained. In this paper, poly(ε-caprolactone)-based PNSs with adjustable thickness are obtained in large quantity by simple water exposure of multilayer polymer films, which are fabricated via a layer multiplying coextrusion method...
May 2018: Small
https://www.readbyqxmd.com/read/29699546/elevated-urinary-excretion-of-free-pyridinoline-in-friesian-horses-suggests-a-breed-specific-increase-in-collagen-degradation
#15
Veronique Saey, Jonathan Tang, Richard Ducatelle, Siska Croubels, Siegrid De Baere, Stijn Schauvliege, Gunther van Loon, Koen Chiers
BACKGROUND: Friesian horses are known for their high inbreeding rate resulting in several genetic diseases such as hydrocephaly and dwarfism. This last decade, several studies focused on two other presumed hereditary traits in Friesian horses: megaoesophagus and aortic rupture. The pathogenesis of these diseases remains obscure but an important role of collagen has been hypothesized. The purpose of this study was to examine possible breed-related differences in collagen catabolism. Urinary specimens from Friesian (n = 17, median age 10 years old) and Warmblood horses (n = 17, median age 10 years old) were assessed for mature collagen cross-links, i...
April 25, 2018: BMC Veterinary Research
https://www.readbyqxmd.com/read/29649997/year-round-effects-of-a-four-week-randomized-controlled-trial-using-different-types-of-feedback-on-employees-physical-activity
#16
Karen Van Hoye, Anne I Wijtzes, Johan Lefevre, Stijn De Baere, Filip Boen
BACKGROUND: This follow-up study investigated the year-round effects of a four-week randomized controlled trial using different types of feedback on employees' physical activity, including a need-supportive coach intervention. METHODS: Participants (n = 227) were randomly assigned to a Minimal Intervention Group (MIG; no feedback), a Pedometer Group (PG; feedback on daily steps only), a Display Group (DG; feedback on daily steps, on daily moderate-to-vigorous physical activity [MVPA] and on total energy expenditure [EE]), or a Coaching Group (CoachG; same as DG with need supportive coaching)...
April 12, 2018: BMC Public Health
https://www.readbyqxmd.com/read/29567631/interventional-radiology-role-in-the-treatment-of-sarcomas
#17
REVIEW
Thierry de Baere, Lambros Tselikas, Guillaume Gravel, Antoine Hakime, Frederic Deschamps, Charles Honoré, Olivier Mir, Axel Lecesne
In bone and soft tissue sarcomas (STS), surgery was to the only local curative treatment, but recently, radiation therapy and interventional radiology has evolved to potentially curative treatment, namely in small size tumours. Indication for local treatment in STS needs validation in multidisciplinary team. Most will agree on local treatment for single metastatic location in a well-controlled disease and for no local treatment in a rapidly evolving multi-metastatic disease. The challenge is in patients who are in between, for whom benefit of disease control on overall survival should be evaluated...
May 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/29549416/immuno-oncology-in-cancer-care-is-a-fantastic-opportunity-for-interventional-oncology-io4io-interventional-oncology-for-immuno-oncology-initiative
#18
EDITORIAL
Thierry de Baère, Lambros Tselikas, Frederic Deschamps, Jean Charles Soria, Aurélien Marabelle
No abstract text is available yet for this article.
June 2018: Cardiovascular and Interventional Radiology
https://www.readbyqxmd.com/read/29515767/efficacy-of-histology-agnostic-and-molecularly-driven-her2-inhibitors-for-refractory-cancers
#19
Luc Cabel, Alina Fuerea, Ludovic Lacroix, Capucine Baldini, Patricia Martin, Antoine Hollebecque, Sophie Postel-Vinay, Andrea Varga, Rastilav Balheda, Anas Gazzah, Jean-Marie Michot, Aurélien Marabelle, Etienne Rouleau, Eric Solary, Thierry De Baere, Eric Angevin, Jean-Pierre Armand, Stefan Michiels, Jean Yves Scoazec, Samy Ammari, Fabrice André, Jean-Charles Soria, Christophe Massard, Loic Verlingue
A targeted therapy is recommended in case of ERBB2 alteration for breast and gastric carcinomas, but miscellaneous other tumor types are ERBB2- altered at low prevalence. Broadening the administration of HER2 inhibitors across tumor types and genomic alterations could benefit to patients with refractory metastatic tumors. Targeted next-generation-sequencing (tNGS) and comparative genomic hybridization array (CGH) have been performed on fresh tumor biopsies of patients included in the MOSCATO-01 and ongoing MOSCATO-02 trials to administrate HER2 inhibitors in case of ERBB2 pathogenic mutation of amplification...
February 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29468287/pickering-emulsion-for-liver-trans-arterial-chemo-embolization-with-oxaliplatin
#20
Frederic Deschamps, Kathleen R Harris, Laurence Moine, Weiguo Li, Lambros Tselikas, Thomas Isoardo, Robert J Lewandowski, Angelo Paci, Nicolas Huang, Thierry de Baere, Riad Salem, Andrew C Larson
PURPOSE: Biodegradable polylactic-co-glycolic acid (PLGA) nanoparticles can adsorb at the water/oil interface to stabilize the emulsion (forming Pickering-emulsion). The purpose of this study was to compare the release profiles of oxaliplatin from Pickering-emulsion and Lipiodol-emulsion. MATERIALS/METHODS: Pickering-emulsions and Lipiodol-emulsions were both formulated with oxaliplatin (5 mg/mL) and Lipiodol (water/oil ratio: 1/3). For Pickering-emulsion only, PLGA nanoparticles (15 mg/mL) were dissolved into oxaliplatin before formulation...
May 2018: Cardiovascular and Interventional Radiology
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