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  1. Artikel ; Online: Optimization of biologics to reduce treatment failure in inflammatory bowel diseases.

    Bourchany, Aurélie / Gilletta De Saint-Joseph, Cyrielle / Breton, Anne / Barreau, Frédérick / Mas, Emmanuel

    Current opinion in pharmacology

    2020  Band 54, Seite(n) 51–58

    Abstract: Moderate to severe inflammatory bowel disease patients can fail to respond to conventional therapy and/or to biologic treatment. In the era of TNFα antagonists and other non-anti-TNF biologic drugs, it is important to review the literature on biologic ... ...

    Abstract Moderate to severe inflammatory bowel disease patients can fail to respond to conventional therapy and/or to biologic treatment. In the era of TNFα antagonists and other non-anti-TNF biologic drugs, it is important to review the literature on biologic treatment failure, which could be defined as primary non-response, secondary loss of response and intolerance. Therapeutic drug monitoring (TDM), that is, drug trough level and antidrug antibodies, should enable to determine the mechanisms of treatment failure and to optimize drug efficacy. There is a consensus on reactive TDM at the time of loss of response. Proactive TDM could be of interest during induction and/or maintenance, but randomized controlled trials are required.
    Mesh-Begriff(e) Antibodies, Monoclonal, Humanized/therapeutic use ; Biological Products/therapeutic use ; Drug Monitoring ; Drug Resistance ; Gastrointestinal Agents/therapeutic use ; Humans ; Inflammatory Bowel Diseases/drug therapy ; Treatment Failure ; Tumor Necrosis Factor-alpha/antagonists & inhibitors ; Ustekinumab/therapeutic use
    Chemische Substanzen Antibodies, Monoclonal, Humanized ; Biological Products ; Gastrointestinal Agents ; Tumor Necrosis Factor-alpha ; vedolizumab (9RV78Q2002) ; Ustekinumab (FU77B4U5Z0)
    Sprache Englisch
    Erscheinungsdatum 2020-09-15
    Erscheinungsland England
    Dokumenttyp Journal Article ; Review
    ZDB-ID 2037057-X
    ISSN 1471-4973 ; 1471-4892
    ISSN (online) 1471-4973
    ISSN 1471-4892
    DOI 10.1016/j.coph.2020.07.012
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

    Miguet, Marguerite / Thevenon, Julien / Laugel, Vincent / Lefebvre, Mathilde / Bourchany, Aurélie / Rivière, Jean-Baptiste / Duffourd, Yannis / Schaefer, Elise / Antal, Maria Cristina / Abida, Rosalie / Weingertner, Anne-Sophie / Kremer, Valérie / Vabres, Pierre / Morice-Picard, Fanny / Gonzales, Marie / Lipsker, Dan / Fraitag, Sylvie / Mandel, Jean-Louis / Chelly, Jamel /
    Dollfus, Hélène / Faivre, Laurence / Thauvin-Robinet, Christel / Calmels, Nadège / El Chehadeh, Salima

    Prenatal diagnosis

    2016  Band 36, Heft 13, Seite(n) 1276–1279

    Mesh-Begriff(e) Craniofacial Abnormalities/genetics ; Female ; Fetal Death ; Gestational Age ; Humans ; Ichthyosis/embryology ; Ichthyosis/genetics ; Male ; Mutation ; Pregnancy ; Trichothiodystrophy Syndromes/genetics ; Xeroderma Pigmentosum Group D Protein/genetics
    Chemische Substanzen Xeroderma Pigmentosum Group D Protein (EC 3.6.4.12) ; ERCC2 protein, human (EC 5.99.-)
    Sprache Englisch
    Erscheinungsdatum 2016-12
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ZDB-ID 82031-3
    ISSN 1097-0223 ; 0197-3851
    ISSN (online) 1097-0223
    ISSN 0197-3851
    DOI 10.1002/pd.4965
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

    Esteve, Clothilde / Francescatto, Ludmila / Tan, Perciliz L / Bourchany, Aurélie / De Leusse, Cécile / Marinier, Evelyne / Blanchard, Arnaud / Bourgeois, Patrice / Brochier-Armanet, Céline / Bruel, Ange-Line / Delarue, Arnauld / Duffourd, Yannis / Ecochard-Dugelay, Emmanuelle / Hery, Géraldine / Huet, Frédéric / Gauchez, Philippe / Gonzales, Emmanuel / Guettier-Bouttier, Catherine / Komuta, Mina /
    Lacoste, Caroline / Maudinas, Raphaelle / Mazodier, Karin / Rimet, Yves / Rivière, Jean-Baptiste / Roquelaure, Bertrand / Sigaudy, Sabine / Stephenne, Xavier / Thauvin-Robinet, Christel / Thevenon, Julien / Sarles, Jacques / Levy, Nicolas / Badens, Catherine / Goulet, Olivier / Hugot, Jean-Pierre / Katsanis, Nicholas / Faivre, Laurence / Fabre, Alexandre

    American journal of human genetics

    2018  Band 102, Heft 3, Seite(n) 364–374

    Abstract: Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, ...

    Abstract Despite the rapid discovery of genes for rare genetic disorders, we continue to encounter individuals presenting with syndromic manifestations. Here, we have studied four affected people in three families presenting with cholestasis, congenital diarrhea, impaired hearing, and bone fragility. Whole-exome sequencing of all affected individuals and their parents identified biallelic mutations in Unc-45 Myosin Chaperone A (UNC45A) as a likely driver for this disorder. Subsequent in vitro and in vivo functional studies of the candidate gene indicated a loss-of-function paradigm, wherein mutations attenuated or abolished protein activity with concomitant defects in gut development and function.
    Mesh-Begriff(e) Adolescent ; Animals ; Bone and Bones/pathology ; Child, Preschool ; Cholestasis/genetics ; Diarrhea/genetics ; Diarrhea/physiopathology ; Family ; Female ; Fibroblasts/pathology ; Gastrointestinal Motility ; Hearing Loss/genetics ; Humans ; Infant, Newborn ; Intracellular Signaling Peptides and Proteins/genetics ; Loss of Function Mutation/genetics ; Lymphocytes/pathology ; Male ; Pedigree ; Phenotype ; Syndrome ; Young Adult ; Zebrafish
    Chemische Substanzen Intracellular Signaling Peptides and Proteins ; UNC45A protein, human
    Sprache Englisch
    Erscheinungsdatum 2018-02-08
    Erscheinungsland United States
    Dokumenttyp Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 219384-x
    ISSN 1537-6605 ; 0002-9297
    ISSN (online) 1537-6605
    ISSN 0002-9297
    DOI 10.1016/j.ajhg.2018.01.009
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

    Bourchany, Aurélie / Thauvin-Robinet, Christel / Lehalle, Daphné / Bruel, Ange-Line / Masurel-Paulet, Alice / Jean, Nolwenn / Nambot, Sophie / Willems, Marjorie / Lambert, Laetitia / El Chehadeh-Djebbar, Salima / Schaefer, Elise / Jaquette, Aurélia / St-Onge, Judith / Poe, Charlotte / Jouan, Thibaud / Chevarin, Martin / Callier, Patrick / Mosca-Boidron, Anne-Laure / Laurent, Nicole /
    Lefebvre, Mathilde / Huet, Frédéric / Houcinat, Nada / Moutton, Sébastien / Philippe, Christophe / Tran-Mau-Them, Frédéric / Vitobello, Antonio / Kuentz, Paul / Duffourd, Yannis / Rivière, Jean-Baptiste / Thevenon, Julien / Faivre, Laurence

    European journal of medical genetics

    2017  Band 60, Heft 11, Seite(n) 595–604

    Abstract: Background and objective: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is ... ...

    Abstract Background and objective: Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results.
    Methods: WES was proposed to 29 patients with severe undiagnosed disorders with developmental abnormalities and faced with medical situations requiring rapid diagnosis. Each family gave consent. The extracted DNA was sequenced on a NextSeq500 (Illumina) instrument. Data were analyzed following standard procedures. Variants were interpreted using in-house software. Each rare variant affecting protein sequences with clinical relevance was tested for familial segregation.
    Results: The diagnostic rate was 45% (13/29), with a mean turnaround time of 40 days from reception of the specimen to delivery of results to the referring physician. Besides permitting genetic counseling, the rapid diagnosis for positive families led to two pre-natal diagnoses and two inclusions in clinical trials.
    Conclusions: This pilot study demonstrated the feasibility of rapid diagnostic WES in our primary genetics center. It reduced the diagnostic odyssey and helped provide support to families.
    Sprache Englisch
    Erscheinungsdatum 2017-11
    Erscheinungsland Netherlands
    Dokumenttyp Journal Article
    ZDB-ID 2184135-4
    ISSN 1878-0849 ; 1769-7212
    ISSN (online) 1878-0849
    ISSN 1769-7212
    DOI 10.1016/j.ejmg.2017.08.011
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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