Results 11 to 20 of about 13,409 (148)

CEBPA-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report [PDF]

Frontiers in Genetics
CEBPA-associated familial acute myeloid leukemia (AML) is an autosomal dominant leukemia predisposition syndrome associated with germline variants in the CEBPA gene.
Tanguy Demaret, Damien Feret, Barbara Lambert, Delphine Pranger, Jean-Louis Dargent, Maria Dolores Martin Martinez, Antonio Renda, Isabelle Maystadt, Isabelle Maystadt   +8 more
doaj   +2 more sources

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis [PDF]

ERJ Open Research
Background Mutations in telomere-related genes (TRGs) are the main cause of monogenic familial pulmonary fibrosis. Dyskerin, encoded by the X-localised gene DKC1, is involved in telomere maintenance.
Ophélie Evrard, Quentin Philippot, Caroline Kannengiesser, Marie Pierre Debray, Alice Guyard, Antonin Fattori, Armelle Schuller, Hilario Nunes, David Montani, Vincent Bours, Vincent Cottin, Julie Traclet, Amira Benattia, Emilie Berthoux, Adrien Daniel, Xu Yan-Min, Elodie Lainey, Julien Saussereau, Malika Chelbi Viallon, Claire Oudin, Héléne Morel, Bruno Crestani, Raphaël Borie, Ibrahima Ba   +23 more
doaj   +2 more sources

CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management. [PDF]

Clin Genet
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Contrò G, Baroni MC, Caraffi SG, Napoli M, Artuso R, Giliberti A, Bargiacchi S, Mancano G, Traficante G, Mucciolo M, Radio FC, Cordeddu V, Mancini C, Bottillo I, Pirro FA, Bonati MT, Becker CC, Carli D, Mussa A, Gonzalez MIA, Ruiz-Arana IL, Kumps C, Maystadt I, Moortgat S, Peker A, Piccione M, Grammatico P, Rostomashvili N, Lévy J, Scala M, Capra V, Torella A, van Eyk C, Isidor B, Cogne B, Srivastava S, Quinlan A, Vaisfeld A, Licchetta L, Frattini D, Graziano C, Severi G, Bacchi I, Soliani L, Sherr EH, Argilli E, Goel H, De Luca C, Leonardi S, Brancati F, Faletra F, Mio C, Braibanti S, Gargano G, Fusco C, Novelli A, Tartaglia M, Garavelli L.   +57 more
europepmc   +2 more sources

Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies [PDF]

Genome Medicine
Background Recent advances in sequencing technologies have enhanced patient diagnosis; however, causal pathogenic variants remain unidentified for a significant number of patients due to limited understanding of certain variants, regulatory sequences, or
Amandine Santini, Angelo Tognon, Anne-Claire Richard, Guillaume Velasco, Gilles Phan, Pauline Marzin, Fabien Maury, Angele May, Caroline Michot, Adela Chirita-Emandi, Jorge M. Saraiva, Maria Juliana Ballesta-Martinez, Stanislas Lyonnet, Ivona Sansović, Tahsin Stefan Barakat, Perrine Brunelle, Jamal Ghoumid, Xavier Le Guillou, Pauline Le Tanno, Marjolaine Willems, Martin Zenker, Ina Schanze, Stéphanie Moortgat, Bertrand Isidor, Alix Paulet, Alison Yeung, Jonathan Levy, Federica Ruscitti, Leticia Pias-Peleteiro, Marlène Rio, Thomas Courtin, Hamza Hadj Abdallah, Stéphanie Ducreux, Jean-Sérène Laloy, Paul Rollier, Anne-Marie Guerrot, Nicolas Chatron, Florence Demurger, Alice Goldenberg, Julian Delanne, Laurence Faivre, François Lecoquierre, Gaël Nicolas, Aurélie Coussement, Corinne Collet, Yvan Herenger, Matthieu Defrance, Valérie Cormier-Daire, Camille Charbonnier, Maud de Dieuleveult   +49 more
doaj   +2 more sources

Hepatopulmonary syndrome in patients with porto-sinusoidal vascular disorder: Characteristics and outcome [PDF]

JHEP Reports
Background & Aims: Porto-sinusoidal vascular disorder (PSVD) is a rare cause of portal hypertension. Data on hepatopulmonary syndrome (HPS) in PSVD are limited.
Sabrina Sidali, Ylang Spaes, Kinan El Husseini, Odile Goria, Vincent Mallet, Armelle Poujol-Robert, Anne Gervais, Adrien Lannes, Dominique Thabut, Jean-Baptiste Nousbaum, Isabelle Hourmand-Ollivier, Charlotte Costentin, Alexandra Heurgué, Pauline Houssel-Debry, Sophie Hillaire, Nathalie Ganne-Carrié, Nicolas Drilhon, Shanta Ram Valainathan, Lucile Moga, Marion Tanguy, Estelle Marcault, Aurélie Plessier, François Durand, Sarah Raevens, Valérie Paradis, Agnès Cachier, Laure Elkrief, Pierre-Emmanuel Rautou   +27 more
doaj   +2 more sources

ERS: A simple scoring system to predict early recurrence after surgical resection for hepatocellular carcinoma

Liver International, Volume 43, Issue 11, Page 2538-2547, November 2023., 2023
Abstract Background Surgical resection (SR) is a potentially curative treatment of hepatocellular carcinoma (HCC) hampered by high rates of recurrence. New drugs are tested in the adjuvant setting, but standardised risk stratification tools of HCC recurrence are lacking.
Charlotte Costentin, Etienne Audureau, Young Nyun Park, Serena Langella, Eric Vibert, Alexis Laurent, François Cauchy, Olivier Scatton, Mircea Chirica, Rami Rhaiem, Emmanuel Boleslawski, Luca di Tommaso, Alessandro Ferrero, Hirohisa Yano, Jun Akiba, Matteo Donadon, Martina Nebbia, Olivier Detry, Pierre Honoré, Marcello Di Martino, Lilian Schwarz, Louise Barbier, Jean‐Charles Nault, Hyungjin Rhee, Chetana Lim, Raffaele Brustia, Valérie Paradis, Catherine Guettier, Brigitte Le Bail, Shinya Okumura, Jean‐Frédéric Blanc, Julien Calderaro   +31 more
wiley   +1 more source

Detection of Ureaplasma Biovars and Subtyping of Ureaplasma parvum among Women Referring to a University Hospital in Morocco

Infectious Diseases in Obstetrics and Gynecology, Volume 2020, Issue 1, 2020., 2020
Objectives. The aim of this study was to determine the prevalence of Ureaplasma biovars and Ureaplasma parvum (U. parvum) serovars, their associated risk factors, and genital STI‐related symptoms. Methods. DNA obtained from cervical samples of 1053 women attending the department of Obstetrics and Gynecology and the laboratory of pathological anatomy of
Safae Karim, Chahrazed Bouchikhi, Abdelaziz Banani, Hinde E. L. Fatemi, Tiatou Souho, Sanaa Erraghay, Bahia Bennani, Bryan Larsen   +7 more
wiley   +1 more source

Three-Dimensional Printing and Medical Education: A Narrative Review of the Literature

University of Ottawa Journal of Medicine, 2016
Objectives: Three-dimensional (3D) printing has emerged in the past decade as a promising tool for the world of medicine. The focus of this article is to review how 3D printed models have been used in medical education.
Michael Peppis Bartellas
doaj   +1 more source

De la relégation du corps par les techniques médicales à la relégation du corps par la maladie :un corps en quête de reconnaissance et d’« ajustement » [PDF]

, 2007
International audienceIl y aurait, de nos jours, une tension entre la manière dont les pratiques médicales conduisent à envisager le corps, sous l'effet des progrès scientifiques et des techniques thérapeutiques, et la façon dont les individus ...
Gaille, Marie
core   +3 more sources

Evaluation du risque thromboembolique veineux et pratique de la thromboprophylaxie en médecine interne

The Pan African Medical Journal, 2015
INTRODUCTION: le risque thromboembolique veineux en médecine a été largement incriminé dans la charge humaine et financière de l'ensemble de cette pathologie. Les facteurs de risque sont identifiés et côtés pour optimiser la prise en charge.
Diatou Gueye Dia, Seynabou Fall, Amadou Diop Dia, Nafissatou Diagne Sakho, Sidy Mohamed Seck, Thèrèse Moreira Diop   +5 more
doaj   +1 more source