906 results match your criteria: "Centre de Ressources[Affiliation]"

Article Synopsis
  • Hereditary transthyretin amyloidosis (ATTRv) is a genetic disease that typically starts in adults and leads to progressive nervous system issues, but there are effective treatments available.
  • A study conducted in France over five years analyzed 553 patients over 50 with progressive nerve problems, finding that 2.7% had pathogenic gene variants linked to ATTRv, primarily the Val30Met variant.
  • Patients with ATTRv were more likely to experience symptoms like severe weight loss and orthostatic hypotension, and the diagnosis allowed for specific treatments and identified additional cases in family members, emphasizing the importance of early detection.
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  • Turoctocog alfa, a Factor VIII replacement therapy, was evaluated for its effectiveness in patients with hemophilia A undergoing surgery, using data from a national database.
  • The study analyzed 86 surgeries (49 major and 37 minor) across 56 patients, revealing a high overall clinical efficacy of 89.5%, with minimal complications.
  • Results showed that patients with mild hemophilia required fewer infusions and lower doses than those with severe hemophilia, and no significant adverse events or complications occurred during the procedures.
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In cystic fibrosis (CF), Pseudomonas aeruginosa (Pa) is a major pathogen that can persistently colonize patients. Genetic studies showed a high diversity of Pa, the success of widespread or 'international' clones and described epidemic clones in CF and Epidemic High-Risk (ERH) clones. Here, we characterized Pa genetic diversity over time after first colonization in CF patients, with the aim of accurately describing the dynamics of colonization in a context of scarce longitudinal studies including the first isolated Pa strain.

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Although anti-severe acute respiratory syndrome-coronavirus 2 antibody kinetics have been described in large populations of vaccinated individuals, we still poorly understand how they evolve during a natural infection and how this impacts viral clearance. For that purpose, we analyzed the kinetics of both viral load and neutralizing antibody levels in a prospective cohort of individuals during acute infection with alpha variant. Using a mathematical model, we show that the progressive increase in neutralizing antibodies leads to a shortening of the half-life of both infected cells and infectious viral particles.

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Article Synopsis
  • * Understanding how these modulators affect the microbiomes in the lungs and digestive tract is crucial for predicting disease outcomes and mechanisms.
  • * This review discusses the current knowledge of CFTR modulators' effects on microbial communities and highlights the connection between lung and gut health in cystic fibrosis.
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Associations between perfluoroalkyl substances and the severity of non-alcoholic fatty liver disease.

Environ Int

October 2023

Service d'Hépato-Gastroentérologie et Oncologie Digestive, Centre Hospitalier Universitaire d'Angers, Angers, France; Laboratoire HIFIH, SFR ICAT 4208, Université d'Angers, Angers, France. Electronic address:

Background: Non-alcoholic fatty liver disease (NAFLD) has become the leading cause of chronic liver disease worldwide and the determinants driving its severity remain to be elucidated. Perfluoroalkyl substances (PFAS) are synthetic chemical compounds. They are used in commonplace products and persistent in water, soil and the human body.

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  • Chronic lung allograft dysfunction (CLAD) can manifest as bronchiolitis obliterans syndrome (BOS) or restrictive allograft syndrome (RAS), and this study aimed to see if chest-CT abnormalities post-lung transplant could predict CLAD before patients experience respiratory decline.
  • The study involved analyzing CT scans from 118 lung transplant patients over several years, revealing that certain CT features like moderate pulmonary artery stenosis and consolidations were associated with a higher risk of developing CLAD or even death.
  • Findings suggest that routine chest CT scans after lung transplantation may help identify patients at risk for CLAD, allowing for earlier interventions.
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Characterizing the phenotypic and genetic structure of psychopathology in UK Biobank.

medRxiv

September 2023

Laboratoire de Sciences Cognitives et Psycholinguistique, Département d'Études Cognitives, École Normale Supérieure, EHESS, CNRS, PSL University, 75005, Paris, France.

Mental conditions exhibit a higher-order transdiagnostic factor structure which helps to explain the widespread comorbidity observed in psychopathology. However, the phenotypic and genetic structures of psychopathology may differ, raising questions about the validity and utility of these factors. Here, we study the phenotypic and genetic factor structures of ten psychiatric conditions using UK Biobank and public genomic data.

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The risk of COVID-19 in IBD patients is increased by urban living and is not influenced by disease activity or intravenous biologics.

Front Immunol

September 2023

Nantes Université, Centre Hospitalier Universitaire (CHU) Nantes, Institut des Maladies de l'Appareil Digestif (IMAD), Hépato-Gastro-Entérologie et Assistance Nutritionnelle, Institut national de la santé et de la recherche médicale (Inserm) CIC 1413, Nantes, France.

Article Synopsis
  • Patients with inflammatory bowel disease (IBD) treated with infliximab or vedolizumab showed a COVID-19 prevalence similar to the general French population before vaccinations, with only 4.5% confirmed cases.
  • Factors increasing COVID-19 risk included using public transport and living in urban settings, while treatment type or disease activity did not affect infection rates.
  • Recommendations suggest that maintaining sanitary barrier measures is essential for IBD patients on biological therapies to minimize the risk of SARS-CoV-2 infection.
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Background: Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator () gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.

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Background: Kidney injury molecule 1 (KIM-1) is a transmembrane glycoprotein expressed by proximal tubular cells, recognized as an early, sensitive and specific urinary biomarker for kidney injury. Blood KIM-1 was recently associated with the severity of acute and chronic kidney damage but its value in antineutrophil cytoplasmic antibodies (ANCA)-associated vasculitis with glomerulonephritis (ANCA-GN) has not been studied. Thus, we analyzed its expression at ANCA-GN diagnosis and its relationship with clinical presentation, kidney histopathology and early outcomes.

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is the one of the most common and impactful pathogens of flax. Cultivars of flax that show resistance to this pathogen have previously been identified. To better understand the mechanisms that are responsible for this resistance, we conducted time-lapse analysis of one susceptible and one resistant cultivar over a two-week period following infection.

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Molecular-based targeted therapies in patients with hepatocellular carcinoma and hepato-cholangiocarcinoma refractory to atezolizumab/bevacizumab.

J Hepatol

December 2023

Cordeliers Research Center, Sorbonne Université, Inserm, Université de Paris, team « Functional Genomics of Solid Tumors », Equipe labellisée Ligue Nationale Contre le Cancer, Labex OncoImmunology, F-75006 Paris, France; Liver Unit, Avicenne Hospital, APHP, Bobigny, France. Electronic address:

Background & Aims: The "French Medicine Genomic program 2025" has been designed to give patients with cancers that are refractory to systemic treatments access to off-label therapies adapted to their specific genomic profile. Herein, we reported the results of this program in patients with advanced hepatocellular carcinoma (HCC) and hepato-cholangiocarcinoma (H-CCK).

Methods: In one center, all patients with HCC or H-CCK who progressed under atezolizumab/bevacizumab with available tumor frozen samples benefited from whole-genome/-exome and RNA sequencing.

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Article Synopsis
  • A study was conducted in France to explore the relationship between children's screen use and cognitive development using data from a nationwide birth cohort of 13,763 children.
  • Parents reported children’s screen time at ages 2, 3.5, and 5.5, while cognitive abilities were measured through standardized assessments.
  • The results showed that while watching TV during family meals correlated with lower vocabulary scores at age 2 and some negative associations with cognitive scores at ages 3.5 and 5.5, the overall impact of screen time on cognitive development was found to be weak after adjusting for various confounding factors.
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Objective: Small-cell lung cancer (SCLC) is the malignancy most frequently associated with paraneoplastic neurological syndromes (PNS) and can trigger different antibody responses against intracellular (Hu) or neuronal surface (GABA R) antigens. Our aim was to clarify whether the genomic and transcriptomic features of SCLC are different in patients with anti-GABA R or anti-Hu PNS compared with SCLC without PNS.

Methods: A total of 76 SCLC tumor samples were collected: 34 anti-Hu, 14 anti-GABA R, and 28 SCLC without PNS.

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A short washout period from fingolimod to anti-CD20 therapy is safe and decreases the risk of reactivation.

Rev Neurol (Paris)

November 2023

Department of Neurology, centre de ressources et de compétences SEP - Paris, Pitié-Salpêtrière University Hospital, AP-HP, 47, boulevard de l'Hôpital, 75013 Paris, France. Electronic address:

The frequency of switches between Disease Modifying Therapies (DMTs) in Multiple Sclerosis (MS) has increased considerably over previous years. Between fingolimod and anti-CD20 therapies, a 1-month washout period is usually recommended. However, disease reactivations are frequent after fingolimod (Fg) cessation.

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Current agricultural practices rely heavily on synthetic fertilizers, which not only consume a lot of energy but also disrupt the ecological balance. The overuse of synthetic fertilizers has led to soil degradation. In a more sustainable approach, alternative methods based on biological interactions, such as plant growth-promoting bacteria (PGPRs), are being explored.

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Importance: Radiologically isolated syndrome (RIS) represents the earliest detectable preclinical phase of multiple sclerosis (MS) punctuated by incidental magnetic resonance imaging (MRI) white matter anomalies within the central nervous system.

Objective: To determine the time to onset of symptoms consistent with MS.

Design, Setting, And Participants: From September 2017 to October 2022, this multicenter, double-blind, phase 3, randomized clinical trial investigated the efficacy of teriflunomide in delaying MS in individuals with RIS, with a 3-year follow-up.

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MicroRNAs miR-16 and miR-519 control meningioma cell proliferation overlapping transcriptomic programs shared with the RNA-binding protein HuR.

Front Oncol

August 2023

INSERM, U1256, NGERE - Nutrition, Genetics, and Environmental Risk Exposure, Faculty of Medicine of Nancy, University of Lorraine, Vandoeuvre-lès-Nancy, France.

Introduction: Meningiomas are the most common type of primary central nervous system tumors. In about 80% cases, these tumors are benign and grow very slowly, but the remainder 20% can unlock higher proliferation rates and become malignant. In this study we examined two miRs, miR-16 and miR-519, and evaluated their role in tumorigenesis and cell growth in human meningioma.

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The objective of this study is to automate and analyse the quantification of external load during an elite men's handball match. This study was carried out using data from a local positioning system and inertial measurement units. The literature review leads us to assume that physical demands are different depending on position, player specialty and phases of the game.

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Soluble TREM-1 plasma concentration predicts poor outcome in COVID-19 patients.

Intensive Care Med Exp

August 2023

Réanimation Polyvalente et Inserm CIC-1435 & UMR-1092, CHU Limoges, 87000, Limoges, France.

Background: The immuno-receptor Triggering Expressed on Myeloid cells-1 (TREM-1) is activated during bacterial infectious diseases, where it amplifies the inflammatory response. Small studies suggest that TREM-1 could be involved in viral infections, including COVID-19. We here aim to decipher whether plasma concentration of the soluble form of TREM-1 (sTREM-1) could predict the outcome of hospitalized COVID-19 patients.

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Overview and Management of the Most Common Eukaryotic Diseases of Flax ().

Plants (Basel)

July 2023

Laboratory of Phytopathology, Department of Plants and Crops, Faculty of Bioscience Engineering, Coupure Links 653, 9000 Ghent, Belgium.

Flax is an important crop cultivated for its seeds and fibers. It is widely grown in temperate regions, with an increase in cultivation areas for seed production (linseed) in the past 50 years and for fiber production (fiber flax) in the last decade. Among fiber-producing crops, fiber flax is the most valuable species.

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Psychotropic drugs are often used to treat behavior problems in ASD with some evidence supporting efficacity (e.g.: risperidone and irritability) but also significant side effects at the short and longer-term.

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To attempt resolving this issue accurately, it was necessary to anchor our experimental approaches in the observations and pioneering work of our predecessors, notably Alphonse Laveran, Louis Parrot, Edmond and Étienne Sergent. The latter, among other things, had identified as natural hosts of leishmaniasis, rodent populations with which hematophagous telmophagous sand fly populations cohabited closely.When human populations emerged in these natural ecosystems, after the sedentarization of more or less important disturbances would have led to a transition of sand fly hematophagy, from zoophilia, to zoo-anthropophilia and anthropophilia.

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Introduction: Assessing labial salivary gland exocrinopathy is a cornerstone in primary Sjögren's syndrome. Currently this relies on the histopathologic diagnosis of focal lymphocytic sialadenitis and computing a focus score by counting lym=phocyte foci. However, those lesions represent advanced stages of primary Sjögren's syndrome, although earlier recognition of primary Sjögren's syndrome and its effective treatment could prevent irreversible damage to labial salivary gland.

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