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Major role of dolutegravir in the emergence of the S147G integrase resistance mutation.
J Antimicrob Chemother
December 2024
Department of Virology, Sorbonne Université, INSERM, UMR-S 1136, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP, Hôpitaux Universitaires Pitié Salpêtrière - Charles Foix, 83 Boulevard de l'Hôpital 39, F-75013 Paris, France.
Background: The S147G mutation is associated with high-level resistance to the integrase strand transfer inhibitor (INSTI) elvitegravir. In several poorly documented cases, it was also selected in patients on dolutegravir. Given the widespread use of dolutegravir, further studies of S147G are required.
View Article and Find Full Text PDFDouble trouble: a comprehensive study into unrelated genetic comorbidities in adult patients with Facioscapulohumeral Muscular Dystrophy Type I.
Eur J Hum Genet
January 2025
Peripheral Nervous System & Muscle Department, Pasteur 2 Hospital, Nice University Hospital, Nice, France.
Facioscapulohumeral dystrophy type 1 (FSHD1) displays prominent intra- and interfamilial variability, which complicates the phenotype-genotype correlation. In this retrospective study, we investigated FSHD1 patients classified as category D according to the Comprehensive Clinical Evaluation Form (CCEF), a category defined by FSHD patients showing uncommon clinical features, to identify genetic causes explaining these uncommon phenotypes. Demographics, clinical data and clinical scales of FSHD1 patients were retrospectively evaluated.
View Article and Find Full Text PDFTransforming grayscale MRI images to color utilizing generative artificial intelligence to better understand multiple sclerosis.
J Cent Nerv Syst Dis
January 2025
CRCSEP, Université Nice Cote d'Azur, Nice, France.
Multiple sclerosis (MS) falls within the spectrum of central nervous system (CNS) demyelinating diseases that may lead to permanent neurological disability. Fundamental to the diagnosis and clinical surveillance is magnetic resonance imaging (MRI) that allows for the identification of T2-hyperintensities associated with autoimmune injury that demonstrate distinct spatial distribution patterns. Here, we describe the clinical experience of a 31-year-old, right-handed, White man seen in consultation at The University of Texas Southwestern Medical Center in Dallas, Texas, following complaints of headaches that began after head trauma related to military service.
View Article and Find Full Text PDFEvaluation of rheumatoid arthritis-associated interstitial lung disease in patients treated with JAK inhibitors: a MAJIK-SFR cohort study.
RMD Open
January 2025
Service de Rhumatologie, Hôpital Cochin, APHP-Centre Université Paris Cité, Paris, France
Objective: To examine the course of interstitial lung disease associated with rheumatoid arthritis (RA-ILD) in France on treatment with Janus kinase inhibitors (JAKis) using the MAJIK-SFR registry.
Methods: Prospective national multicentre observational study identifying patients with RA-ILD from the MAJIK-SFR registry. Pulmonary assessment data were collected at JAKi initiation and follow-up visits (6 months, 12 months and a median of 21 months postinclusion), including chest high-resolution CT (HRCT), pulmonary function tests (forced vital capacity (FVC) and diffusing capacity of the lungs for carbon monoxide (DLCO)), acute exacerbations of ILD, respiratory infections and lung cancers.
Assessing immunotherapy response: going beyond RECIST by integrating early tumor growth kinetics.
Front Immunol
January 2025
Median Technologies, Imaging Lab, Valbonne, France.
Objective: Assess the contribution of early tumor growth dynamics modeling to predict clinical outcomes in non-small cell lung cancer patients receiving immunotherapy, alongside standard RECIST 1.1 criteria.
Methods: Our retrospective studies used data from 861 patients with advanced NSCLC enrolled in three randomized Phase III trials evaluating immunotherapy plus chemotherapy were analyzed.
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