Results 11 to 20 of about 618 (98)

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants. [PDF]

Mov Disord
Abstract Background DYT‐VPS16, an early‐onset isolated dystonia caused by variants in the VPS16 gene, has been reported in fewer than 70 patients. Methods We explored the clinical and genotypic spectrum of DYT‐VPS16 by investigating early‐onset dystonia patients with VPS16 variants discovered in our large Biodatabank and through gene‐matching ...
Westenberger A, Verdura E, Radefeldt M, Sanderson LE, Tripolszki K, Marcé-Grau A, Cazurro-Gutiérrez A, Nikoncuk A, Herzog R, Al-Ali R, Ferreira M, Almeida LS, Silveira TRD, Khan S, Maia RD, Klivényi P, Salamon A, Baltaci V, Subasioglu A, Prada-Arismendy J, Čuturilo G, Loens S, Tadic V, Maystadt I, Karadurmus D, Leube B, De Winter J, Monticelli A, De Waele L, Baets J, Vinkšel M, Maver A, Tschopp L, Ziegler G, Sanguinetti A, Lohmann K, Barakat TS, Bauer P, Perez-Dueñas B, Bertoli-Avella AM.   +39 more
europepmc   +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

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

Identification of compound heterozygous patients with primary hyperoxaluria type 1: clinical evaluations and in silico investigations

BMC Nephrology, 2017
Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited disorder of glyoxylate metabolism in which excessive oxalates are formed by the liver and excreted by the kidneys.
Houda Kanoun, Faiçal Jarraya, Bayen Maalej, Amina Lahiani, Hichem Mahfoudh, Fatma Makni, Jamil Hachicha, Faiza Fakhfakh   +7 more
doaj   +1 more source

Pattern of care of prostate cancer patients across the Martinique: results of a population-based study in the Caribbean

BMC Cancer, 2018
Background The French West-Indies rank first for both prostate cancer incidence and mortality rates. Analyzing diagnostic and therapeutic procedures among patients with prostate cancer, using data from a population-based cancer registry, is essential for
Clarisse Joachim, Jacqueline Veronique-Baudin, Stephen Ulric-Gervaise, Jonathan Macni, Thierry Almont, Olivier Pierre-Louis, Lidvine Godaert, Moustapha Drame, Jean-Luc Novella, Karim Farid, Vincent Vinh-Hung, Patrick Escarmant   +11 more
doaj   +1 more source

Agenesis of olfactory bulbs: A forgotten diagnostic indicator of acampomelic campomelic dysplasia

Clinical Case Reports, 2019
Campomelic dysplasia (CD) and its variant acampomelic campomelic dysplasia (ACD) are caused by SOX9 haploinsufficiency. This gene encodes a transcription factor crucial for embryogenesis and primarily expressed in the olfactory bulbs.
Marie‐Julie Debuf, Valérie Benoit, Marie Cassart, Kalina Gajewska, Nathalie Gauquier, Colombine Meunier, Anne Rassart, Isabelle Maystadt   +7 more
doaj   +1 more source

Repurposing of Drugs as Novel Influenza Inhibitors From Clinical Gene Expression Infection Signatures

Frontiers in Immunology, 2019
Influenza virus infections remain a major and recurrent public health burden. The intrinsic ever-evolving nature of this virus, the suboptimal efficacy of current influenza inactivated vaccines, as well as the emergence of resistance against a limited ...
Andrés Pizzorno, Andrés Pizzorno, Olivier Terrier, Claire Nicolas de Lamballerie, Claire Nicolas de Lamballerie, Thomas Julien, Thomas Julien, Blandine Padey, Blandine Padey, Aurélien Traversier, Magali Roche, Marie-Eve Hamelin, Chantal Rhéaume, Séverine Croze, Vanessa Escuret, Vanessa Escuret, Julien Poissy, Bruno Lina, Bruno Lina, Catherine Legras-Lachuer, Catherine Legras-Lachuer, Julien Textoris, Julien Textoris, Guy Boivin, Manuel Rosa-Calatrava, Manuel Rosa-Calatrava   +25 more
doaj   +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

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