1,079,251 results match your criteria: "France; French National Reference Center for Rare Neuropathies[Affiliation]"

Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.

Circ Genom Precis Med

January 2025

CARIM School for Cardiovascular Diseases (A.I., S.Z., J.W., B.B., H.J.G.M.C., B.H., M.K., S.V., U.S., M.S.), Maastricht University, the Netherlands.

Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.

Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.

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Letter: Toward Intra-Class Switching With JAK Inhibitors?

Aliment Pharmacol Ther

January 2025

Service d'Hépato-gastroentérologie, Hopital Haut-Leveque, CHU de Bordeaux, Pessac, France.

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Soil microbes are among the most abundant and diverse organisms on Earth but remain poorly characterized. New technologies have made possible to sequence the DNA of uncultivated microorganisms in soil and other complex ecosystems. Genome assembly is crucial for understanding their functional potential.

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Correlation coefficients play a pivotal role in quantifying linear relationships between random variables. Yet, their application to time series data is very challenging due to temporal dependencies. This paper introduces a novel approach to estimate the statistical significance of correlation coefficients in time series data, addressing the limitations of traditional methods based on the concept of effective degrees of freedom (or effective sample size, ESS).

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Blood immunophenotyping of multiple sclerosis patients at diagnosis identifies a classical monocyte subset associated to disease evolution.

Front Immunol

January 2025

Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche U1236, Université Rennes, Etablissement Français du Sang Bretagne, LabEx IGO, Rennes, France.

Introduction: Myeloid cells trafficking from the periphery to the central nervous system are key players in multiple sclerosis (MS) through antigen presentation, cytokine secretion and repair processes.

Methods: Combination of mass cytometry on blood cells from 60 MS patients at diagnosis and 29 healthy controls, along with single cell RNA sequencing on paired blood and cerebrospinal fluid (CSF) samples from 5 MS patients were used for myeloid cells detailing.

Results: Myeloid compartment study demonstrated an enrichment of a peculiar classical monocyte population in 22% of MS patients at the time of diagnosis.

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Patients with A20 haploinsufficiency (HA20) presenting with central nervous system (CNS) symptoms are rare, and available reports are limited. Here, we describe a patient with HA20, previously followed up as Behçet disease, who presented with CNS symptoms in adulthood. A 38-year-old Japanese male who had been followed up for incomplete Behçet disease at another hospital since 28 years of age presented to our hospital with acute-onset diplopia and persistent hiccups that were severe enough to cause vomiting.

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PUR-GEN: A web server for automated generation of polyurethane fragment libraries.

Comput Struct Biotechnol J

December 2024

Tunneling Group, Biotechnology Centre, Silesian University of Technology, Bolesława Krzywoustego 8, Gliwice 44-100, Poland.

The biodegradation of synthetic polymers offers a promising solution for sustainable plastic recycling. Polyurethanes (PUR) stand out among these polymers due to their susceptibility to enzymatic hydrolysis. However, the intricate 3D structures formed by PUR chains present challenges for biodegradation studies, both computational and experimental.

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The pulmonary vasculature plays a pivotal role in the development and progress of chronic lung diseases. Due to limitations of conventional two-dimensional histological methods, the complexity and the detailed anatomy of the lung blood circulation might be overlooked. In this study, we demonstrate the practical use of optical serial block face imaging (SBFI), ex vivo microcomputed tomography (micro-CT), and nondestructive optical tomography for visualization and quantification of the pulmonary circulation's 3D architecture from macro- to micro-structural levels in murine lung samples.

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Characteristics and outcomes of patients with LAM receiving sirolimus in France based on real-life data.

Front Med (Lausanne)

January 2025

Department of Respiratory Medicine, Reference Centre for Rare Pulmonary Diseases, APHP, Hôpital Avicenne, INSERM U 1272, Université Sorbonne Paris-Nord, Bobigny, France.

LAM is a rare multi-cystic lung disease for which treatment with sirolimus is indicated in cases of moderate or severe lung disease or declining lung function. The aim of this study was to describe patients treated with sirolimus for LAM and their outcomes. This retrospective observational study was based on data from the French national health insurance data system (SNDS).

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Background And Objective: Treatment landscape in advanced prostate cancer (PC) is evolving. There is limited understanding of the factors influencing decision-making for genetic/genomic testing and the barriers to recommending testing and treatment in international real-world clinical practice following the approval of poly-adenosine diphosphate-ribose polymerase inhibitors (PARPi) for metastatic castration-resistant PC (mCRPC). This work aims to assess genetic/genomic testing patterns and methods, including for homologous recombination repair mutation (HRRm), and treatment decisions among physicians caring for patients with PC across the USA, Europe, and Asia.

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Blood-based biomarkers have been revolutionizing the detection, diagnosis and screening of Alzheimer's disease. Specifically, phosphorylated-tau variants (p-tau, p-tau and p-tau) are promising biomarkers for identifying Alzheimer's disease pathology. Antibody-based assays such as single molecule arrays immunoassays are powerful tools to investigate pathological changes indicated by blood-based biomarkers and have been studied extensively in the Alzheimer's disease research field.

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Purpose: The co-inhibitory receptor B and T Lymphocyte Attenuator (BTLA) negatively regulates B and T cell activation. We have previously shown an altered BTLA expression by regulatory T cells and an impaired capacity of BTLA to inhibit CD4 T cell activation in lupus patients. In this study, we analyzed BTLA expression and function in the NZB/W lupus-mouse model and examined the therapeutic potential of BTLA targeting.

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Background: This study aimed to quantify the global impact of pneumoconiosis resulting from occupational exposure to particulate matter, gasses, and fumes from 1990 to 2021, utilizing data from the Global Burden of Disease Study 2021.

Method: The analysis evaluated the global, regional, and national burden of pneumoconiosis attributable to workplace exposure to particulate matter, gasses, and fumes. It explored variations in disease impact across different demographics, including age and gender, and analyzed the relationship between disease burden and the Socio-Demographic Index (SDI).

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Grapevine cell response to carbon deficiency requires transcriptome and methylome reprogramming.

Hortic Res

January 2025

Ecophysiologie et Génomique Fonctionnelle de la Vigne (EGFV), University of Bordeaux, Bordeaux Sciences Agro, INRAE, ISVV, Villenave d'Ornon, France.

Sugar limitation has dramatic consequences on plant cells, which include cell metabolism and transcriptional reprogramming, and the recycling of cellular components to maintain fundamental cell functions. There is however no description of the contribution of epigenetic regulations to the adaptation of plant cells to limited carbon availability. We investigated this question using nonphotosynthetic grapevine cells (, cv Cabernet Sauvignon) cultured with contrasted glucose concentrations.

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Purpose: In prostate cancer patients, high radiation doses to the urethra have been associated with an increased risk of severe genitourinary toxicity following dose-escalated radiotherapy. Urethra-sparing techniques have emerged as a promising approach to reduce urinary toxicity. This international survey aims to evaluate current global practices in urethra-sparing and explore future directions for the implementation of this technique in external beam radiotherapy (EBRT) for prostate cancer.

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Constraint programming is known for being an efficient approach to solving combinatorial problems. Important design choices in a solver are the , designed to lead the search to the best solutions in a minimum amount of time. However, developing these heuristics is a time-consuming process that requires problem-specific expertise.

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Background: Autism Spectrum Disorder (ASD) presents early communication and social challenges, necessitating timely and accessible intervention. Pre-school Autism Communication Therapy (PACT), a parent-mediated intervention, empowers parents to facilitate their child's development. However, accessibility issues often hinder families from accessing evidence-based intervention.

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Objective: Digital therapeutics (DTx) are promising technologies. However, current assessment and access frameworks, when they exist, are heterogeneous and fragmented. We analysed and compared health technology assessment (HTA) criteria for DTx across European countries that had assessed the same DTx products.

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From basic scientific research to the development of new drugs for pulmonary arterial hypertension: insights from activin-targeting agents.

Breathe (Sheff)

January 2025

Université Paris-Saclay, INSERM UMR_S 999, Hypertension Pulmonaire: Physiopathologie et Innovation Thérapeutique (HPPIT), Faculté de Médecine, Le Kremlin-Bicêtre, France.

Pulmonary arterial hypertension (PAH) is a severe disorder of the pulmonary vasculature leading to right ventricular failure. This pulmonary vascular remodelling leads to increased pulmonary vascular resistance and high pulmonary arterial pressures. Despite the development of new therapies, many patients continue to experience significant morbidity and mortality.

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How physical activity opportunities seized by adolescents differ between Europe and the Pacific Islands: the example of France and New Caledonia.

Open Res Eur

October 2024

Univ. Lille, Univ. Artois, Univ. Littoral Côte d'Opale, ULR 7369 - URePSSS - Unité de Recherche Pluridisciplinaire Sport Santé Société, F-59000 Lille, France, University of Lille, Lille, Hauts-de-France, France.

Background: France (FR) and New Caledonia (NC) are both French territories, one in Western Europe, the other as part of the Pacific Island Countries and Territories (PICTs). Despite schooling in similar educational systems, FR and NC adolescents develop distinct relationships with physical activity, which is influenced by the geographical-cultural and symbolic structures of their respective societies. This study explored the distribution of physical activity according to geographical culture and opportunity-temporal dimensions.

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Engineering 0.8BiFeO-0.2BaTiO multiferroics with improved dielectric and magnetic properties samarium doping.

RSC Adv

January 2025

IMMM, Institut des Molécules et Matériaux du Mans Bd Charles Nicolle 72000 Le Mans France.

Samarium (Sm) modification is emerging as a powerful strategy to manipulate the electrical response of 0.8BiFeO-0.2BaTiO (BFBT) multiferroic ceramics.

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The Mediterranean Sea is an intercontinental marine environment renowned for its biodiversity and ecological significance. However, it is also one of the most polluted seas globally with significant levels of microplastics and heavy metals among other emerging contaminants. In Lebanon, inadequate waste management infrastructure and unregulated industrial discharges have exacerbated water quality deterioration by introducing these complex contaminants into surface and seawater.

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Long-term effects of combining anaerobic digestate with other organic waste products on soil microbial communities.

Front Microbiol

January 2025

Agroécologie, French National Institute for Agriculture, Food, and Environment (INRAE), Institut Agro, Université Bourgogne, Université Bourgogne Franche-Comté, Dijon, France.

Introduction: Agriculture is undergoing an agroecological transition characterized by adopting new practices to reduce chemical fertilizer inputs. In this context, digestates are emerging as sustainable substitutes for mineral fertilizers. However, large-scale application of digestates in agricultural fields requires rigorous studies to evaluate their long-term effects on soil microbial communities, which are crucial for ecosystem functioning and resilience.

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We investigated the metabolome of the iron- and sulfur-oxidizing, extremely thermoacidophilic archaeon grown on mineral pyrite (FeS). The extraction of organic materials from these microorganisms is a major challenge because of the tight contact and interaction between cells and mineral materials. Therefore, we applied an improved protocol to break the microbial cells and separate their organic constituents from the mineral surface, to extract lipophilic compounds through liquid-liquid extraction, and performed metabolomics analyses using MALDI-TOF MS and UHPLC-UHR-Q/TOF.

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