Results 151 to 160 of about 5,362,679 (291)

Experimental evaluation of tenocillin clinical breakpoints against enterobacterales

, 2019
Dans le monde entier l’antibiorésistance des entérobactérales communautaires, notamment par production de ß-lactamase à spectre étendu (E-BLSE), conduit à une consommation préoccupante d’antibiotique de dernier recours tels les carbapénèmes. Dérivé de la ticarcilline la témocilline pourrait représentée une alternative y compris sur certaines ...
openaire   +1 more source

Genetic risk factors in Finnish patients with Fuchs endothelial corneal dystrophy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To study the genetic risk factors of Fuchs endothelial corneal dystrophy (FECD) in the Finnish population using hospital‐based and large biobank cohorts. Methods We genotyped a cohort of 107 Finnish patients with FECD for the primary associated genetic risk factor, the TCF4 (CTG)>50 expansion, and studied their clinical phenotype.
Inka‐Tuulevi Vähämäki, Annamari T. Immonen, Joel T. Rämö, Aino M. Jaakkola, Kari Krootila, Maria Kaukonen, FinnGen, Aarno Palotie, Hannes Lohi, Tero T. Kivelä, Joni A. Turunen   +10 more
wiley   +1 more source

Global Recommendations for the Use of Diagnostic Genomic Sequencing in the Prenatal Setting on Behalf of the ESHG and ISPD

Prenatal Diagnosis, EarlyView.
Zandra C. Deans, Lina Basel Salmon, Kwong Wai Choy, Guido de Wert, Zirui Dong, Lilian Downie, Francesca Romana Grati, Sabine Hentze, Paula Jorge, Brynn Levy, Luca Lovrecic, Dora Mayen, Álvaro Mendes, Michael Morris, Ashley Pritchard, Raquel Gouveia Silva, Tina‐Marié Wessels, Francesca Forzano, Natalie J. Chandler   +18 more
wiley   +1 more source

Clinical and molecular features of PRCD‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the clinical and genetic characteristics of patients with biallelic disease‐causing variants in the PRCD (Progressive Rod‐Cone Degeneration) gene. Methods Multicentre, retrospective cohort study of 19 patients from 13 families across nine reference centres in six countries.
Vasil Kostin, Karolina Kaminska, Marco Cattaneo, Enrico Ambrosini, Carmen Ayuso, Almudena Ávila‐Fernández, Béatrice Bocquet, Luisa Coutinho‐Santos, Benedetto Falsini, Lidia Fernandez‐Caballero Palomeque, Bohdan Kousal, Petra Liskova, Inmaculada Martín‐Mérida, María Juliana Ballesta‐Martínez, Daan Panneman, Susanne Roosing, Isabelle Meunier, José M. Millán, Monika Pankievič, Irene Perea‐Romero, Virginie Peter, Giorgio Placidi, Cristina Santos, Francesca Simonelli, Ana Berta Sousa, Francesco Testa, Marie Vajter, Marianna Weener, Mathieu Quinodoz, Carlo Rivolta, Giacomo Calzetti   +30 more
wiley   +1 more source

The EUCAST/VETCAST approach to breakpoint and determination

, 2018
International audienceVetCAST is the EUCAST (European Committee on Antimicrobial Susceptibility Testing) subcommittee for veterinary Antimicrobial Susceptibility Testing (AST).
Toutain, Pierre-Louis, Mevius, Dik, Bousquet‐mélou, Alain, Ferran, Aude, Damborg, Peter, Pelligand, Ludovic   +5 more
core   +2 more sources

A genetic and historical perspective on the origins of keratitis fugax hereditaria

Acta Ophthalmologica, EarlyView.
Abstract Purpose To investigate the genetic and genealogical background of keratitis fugax hereditaria (KFH), a periodic corneal disease caused by the heterozygous pathogenic variant c.61G>C in the NLRP3 gene. KFH is characterized by recurrent unilateral autoinflammatory attacks alternating between the eyes and permanent corneal opacities.
Annamari T. Immonen, Sara P. Luostarinen, Päivi Lahermo, Sabita Kawan, Kati Donner, Joseph D. Terwilliger, Michael P. Backlund, Joni A. Turunen   +7 more
wiley   +1 more source

Ocular and cutaneous infection due to Curvularia pseudobrachyspora in an immunosuppressed dog: Case report and in vitro antimycotic susceptibilities

Australian Veterinary Journal, EarlyView.
A 3‐year‐old male Border Collie diagnosed with immune‐mediated dermatopathy, managed with tapering prednisolone and cyclosporine, developed rapidly progressive ocular signs and additional cutaneous lesions. Histopathology, mycological culture, polymerase chain reaction and sequencing confirmed intraocular and cutaneous infection due to Curvularia ...
T Brasil‐Ervedosa, R Clark, J Granados‐Soler, C Palmieri, V Gonzalez‐Astudillo   +4 more
wiley   +1 more source

Xq22 deletion involving TCEAL1 in a female patient with early-onset neurological disease trait

Human Genome Variation
A 3.5-Mb microdeletion in Xq22 was identified in a female patient with early-onset neurological disease trait (EONDT). The patient exhibited developmental delay but no hypomyelination despite PLP1 involvement in the deletion.
Keiko Shimojima Yamamoto, Yusuke Itagaki, Kazuki Tanaka, Nobuhiko Okamoto, Toshiyuki Yamamoto   +4 more
doaj   +1 more source

Identification of Copy Number Variants as a Suspected Cause of Cerebral Small Vessel Disease

Clinical Genetics, EarlyView.
Whole‐exome sequencing of 111 patients with suspected familial cerebral small vessel disease (CSVD) identified novel copy number variants in four patients across NOTCH3, LMNB1, and COL4A2, using bioinformatic and molecular techniques. These validated CNVs suggest structural variation is an underrecognized potential causal contributor to monogenic CSVD ...
Solomon K. Guyler, Neven Maksemous, Rodney A. Lea, Robert A. Smith, Heidi G. Sutherland, Lyn R. Griffiths   +5 more
wiley   +1 more source

Microbiological, Clinical, and Pharmacokinetic/Pharmacodynamic Data to Support EUCAST Aztreonam–Avibactam Minimum Inhibitory Concentration Susceptibility Breakpoints Against Enterobacterales

Infectious Diseases and Therapy
Introduction Aztreonam–avibactam was approved for adults with limited treatment options for multiple infections due to aerobic Gram-negative organisms in the European Union and for complicated intra-abdominal infection in the US, following the phase 3 ...
Susan R. Raber, Rujia Xie, Halley Rogers, Elena Soto, Francis F. Arhin, Gregory G. Stone, Heidi Leister-Tebbe, Joseph W. Chow   +7 more
doaj   +1 more source