5,988 results match your criteria: "University of Bourgogne & Inserm[Affiliation]"

Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.

Eur J Paediatr Neurol

November 2024

Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Electronic address:

Background And Objectives: Developmental and epileptic encephalopathy 56 (DEE-56) is caused by pathogenic variants in YWHAG and is characterized by early-onset epilepsy and neurodevelopmental delay. This study reports on a cohort of DEE-56 individuals, correlating antiseizure medication usage and comorbidities, to aid in understanding disease evolution.

Methods: We analyzed data from thirty-nine individuals aged 3-40 years with YWHAG variants, including 12 previously unreported individuals (2 of these with recurrent distal 7q11.

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Socio-spatial inequalities in presence of primary care physicians and patients' ability to register: A simulated-patient survey in the Paris Region.

Public Health

December 2024

Department of General Practice, University of Paris-Saclay, France; CESP (Centre for Research in Epidemiology and Population Health), Inserm U1018, University of Paris-Saclay, UVSQ, Gender, Sexual and Reproductive Health Team, Paris, France.

Objectives: We studied the socio-spatial inequalities of three types of general practitioner (GP) density in the Paris metropolitan area: the density of GPs present (that is, practising) in the census block and of those registering new patients for office visits and, separately, for house calls.

Study Design: An exhaustive simulated patient survey enabled us to determine the number of GPs practising in the Paris metropolitan region accepting new patient registration for continuing care at their office and/or for house calls.

Methods: We measured at the level of a census block three types of GP densities: density of GPs present, density of GPs registering new patients at their office and density of GP registering new patients for house calls.

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Energy-managed soliton fiber laser.

Nat Commun

October 2024

Laboratoire Interdisciplinaire Carnot de Bourgogne UMR 6303 CNRS, Université de Bourgogne, F-21000, Dijon, France.

Ultrafast fiber lasers constitute a flexible platform to investigate new solitary wave concepts. To surpass the low energy limitation of the conventional solitons generated in standard telecom fibers, successive breakthroughs have promoted the usage of an important frequency chirping within fiber oscillators. This lead to original solitary wave regimes such as stretched-pulse, all-normal-dispersion, and self-similar dynamics.

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DDX17 is an RNA helicase shown to be involved in critical processes during the early phases of neuronal differentiation. Globally, we compiled a case-series of 11 patients with neurodevelopmental phenotypes harbouring de novo monoallelic variants in DDX17. All 11 patients in our case series had a neurodevelopmental phenotype, whereby intellectual disability, delayed speech and language, and motor delay predominated.

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Olfactory perception begins when odorous substances interact with specialized receptors located on the surface of dedicated sensory neurons. The recognition of smells depends on a complex mechanism involving a combination of interactions between an odorant and a set of odorant receptors (ORs), where molecules are recognized according to a combinatorial activation code of ORs. Although these interactions have been studied for decades, the rules governing this ligand recognition remain poorly understood, and the complete combinatorial code is only known for a handful of odorants.

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Effects of the extrusion conditions, the addition of oil and the food matrix on the physical and sensory characteristics of pre-extrusion flavored products.

J Food Sci Technol

November 2024

Department of Food Engineering and Technology, Institute of Biosciences, Humanities and Exact Sciences (Ibilce), São Paulo State University (Unesp), Campus São José Do Rio Preto, Rua Cristóvão Colombo, 2265, São José Do Rio Preto, SP CEP 15054-000 Brazil.

Unlabelled: Thermoplastic extrusion is important in processing a wide variety of food products. In this paper, the effects of different extrusion conditions, addition of vegetable oil and the food matrix itself on the physical and sensory characteristics of corn snacks and meat analogs were evaluated. Cysteine and butyric acid (cheese aroma precursors) and thiamine (a meat aroma precursor) were added to corn grits and soy protein concentrate, respectively, before extrusion.

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Arthroscopic Trillat technique for chronic anterior shoulder instability: outcomes at 2-year follow-up in 74 at-risk sports patients.

J Shoulder Elbow Surg

October 2024

Department of Orthopaedic Surgery, Dijon University Hospital, Dijon, France; INSERM, UMR1093-CAPS, Université Bourgogne Franche-Comté, UB, Dijon, France; INSERM, CIC 1432, Module Plurithématique, Plateforme d'Investigation Technologique, Dijon, France.

Background: Chronic anterior shoulder instability affects a young and athletic population, with a high demand for functional recovery and return to sport. The arthroscopic Trillat dynamic stabilization technique has shown great results at 2 years in terms of stabilization and functional outcomes on the general population. The hypothesis is that it could do so in at-risk for dislocation athletic population for stabilization and return to sport, with results comparable to the reference techniques.

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Refining Criteria for a Neurodevelopmental Subphenotype of Bipolar Disorders: A FondaMental Advanced Centers of Expertise for Bipolar Disorders Study.

Biol Psychiatry

October 2024

Fondation Fondamental, Créteil, France; Centre Hospitalier Universitaire de Montpellier, Hôpital Lapeyronie, Psychiatric Emergency and Post Emergency Department, Pole Urgence, Montpellier, France; L'Institut de Génomique Fonctionnelle, Université de Montpellier, Centre National de la Recherche Scientifique, Institut National de la Santé et de la Recherche Médicale, Montpellier, France. Electronic address:

Article Synopsis
  • Bipolar disorder (BD) is a complex mental health condition, and researchers aimed to identify a neurodevelopmental phenotype (NDP) that contributes to its development and impacts clinical outcomes.
  • By analyzing data from over 4,400 BD patients, they established nine specific clinical features that characterize this NDP, which are linked to poorer prognosis and treatment responses.
  • The findings suggest that patients with a higher NDP load may have overlapping genetic factors with ADHD, indicating a potential shared biological basis for these disorders.
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The aim of this study was to evaluate whether community-level monitoring of respiratory and enteric viruses in wastewater can provide a comprehensive picture of local virus circulation. Wastewater samples were collected weekly at the wastewater treatment plant (WWTP) inlet and at the outlet of a nearby nursing home (NH) in Burgundy, France, during the winter period of 2022/2023. We searched for the pepper mild mottle virus as an indicator of fecal content as well as for the main respiratory viruses [severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), influenza, and respiratory syncytial virus] and enteric viruses (rotavirus, sapovirus, norovirus, astrovirus, and adenovirus).

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Article Synopsis
  • Large datasets of fundus images for eye diseases have been collected to train deep learning models for diagnosing common conditions like diabetic retinopathy, but many systems overlook rare, sight-threatening diseases.
  • A grand challenge called "Retinal Image Analysis for multi-Disease Detection" was held at the IEEE International Symposium on Biomedical Imaging to enhance automatic detection for both common and rare eye diseases, using a new dataset called RFMiD.
  • The challenge attracted significant interest, with 74 submissions, and the best solutions combined techniques like data-preprocessing, augmentation, and model ensembling to improve detection capabilities across a wider range of ocular diseases.
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Terrestrial systems are a significant sink for plastic contamination, including nano- and microplastics (NMPs). To date, limited information is available about the transfer of NMPs up the food web via trophic transfer, however, concerns about this exposure pathway for invertebrates and higher-level organisms have been raised. We aim to examine and quantify the trophic transfer of europium doped polystyrene nanoplastics (Eu-PS; NPs) within a terrestrial food chain.

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Purpose: Lipopolysaccharide (LPS)-type endotoxins are naturally found in the gut microbiota and there is emerging evidence linking gut microbiota and neuroinflammation leading to retinal neurodegeneration. Thinning of the retinal nerve fiber layer (RNFL) is a biomarker of retinal neurodegeneration, and a hallmark of glaucoma, the second leading cause of blindness worldwide. We assessed the association of a blood biomarker of LPS with peripapillary RNFL thickness (RNFLT) and its longitudinal evolution up to 11 years.

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Article Synopsis
  • The study investigates the experiences of ICU healthcare professionals regarding controlled donation after circulatory death (cDCD), amid ethical concerns between end-of-life care and organ donation.
  • Conducted in 32 ICUs in France, the study surveyed 206 physicians and nurses after the deaths of patients considered potential cDCD donors, measuring their anxiety levels and feelings of tension related to the donation process.
  • Results show that cDCD does not significantly increase anxiety for healthcare professionals compared to regular end-of-life situations, with a general positive perception of cDCD among them, suggesting a need for better support in balancing life support decisions and organ donation.
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  • Two experiments tested the use of seeds (PA) as a feed additive to reduce methane emissions in ruminants.
  • In Experiment 1, Hanwoo steers on a TMR-PA diet showed improved digestibility and significant reductions in methane and nitrogen excretion compared to the control group.
  • Experiment 2 confirmed that Holstein steers on the TMR-PA diet had lower rumen ammonia levels, increased short-chain fatty acids, and a notable decrease in rumen protozoa, indicating PA's potential as a natural supplement for reducing emissions.
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  • Researchers studied two proteins, KAT6A and KMT2A, that can cause leukemia when changed or damaged.
  • They tested a new medicine, WM-1119, which stops KAT6A from working to see if it could help fight a kind of leukemia.
  • The results showed that WM-1119 was very effective at stopping cancer cells from growing and helped the cells become more like normal blood cells.
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  • The study explores warm-up strategies used by triathletes and recommended by coaches for Olympic-distance races, aiming to optimize performance due to the importance of a fast start. //! -
  • An online survey was conducted with 79 triathletes and 19 coaches from Italy, France, and Spain, revealing that most athletes favored a cycle-run-swim warm-up lasting 90 minutes, exceeding the 62.5 minutes suggested by coaches. //! -
  • Findings indicate that many triathletes adopt lengthy warm-up routines and only a small percentage perform conditioning exercises shortly before the race, suggesting a need for better education on effective warm-up practices.
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Current advances in phytosterol free forms and esters: Classification, biosynthesis, chemistry, and detection.

Steroids

December 2024

Laboratoiry Bio-PeroxIL / EA7270, Université de Bourgogne / Inserm, 21000 Dijon, France; PHYNOHA Consulting, 21121 Fontaine-lès-Dijon, France. Electronic address:

Phytosterols are plant sterols that are important secondary plant metabolites with significant pharmacological properties. Their presence in the plant kingdom concerns many unrelated botanical families such as oleageneous plants and cereals. The structures of phytosterols evoke those of cholesterol.

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During the 3 years following the emergence of the COVID-19 pandemic, the African continent, like other regions of the world, was substantially impacted by COVID-19. In Morocco, the COVID-19 pandemic has been marked by the emergence and spread of several SARS-CoV-2 variants, leading to a substantial increase in the incidence of infections and deaths. Nevertheless, the comprehensive understanding of the genetic diversity, evolution, and epidemiology of several viral lineages remained limited in Morocco.

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Impact of Viruses on Prokaryotic Communities and Greenhouse Gas Emissions in Agricultural Soils.

Adv Sci (Weinh)

December 2024

Zhejiang Provincial Key Laboratory of Agricultural Resources and Environment, College of Environmental and Resource Sciences, Zhejiang University, Hangzhou, 310058, China.

Viruses are abundant and ubiquitous in soil, but their importance in modulating greenhouse gas (GHG) emissions in terrestrial ecosystems remains largely unknown. Here, various loads of viral communities are introduced into paddy soils with different fertilization histories via a reciprocal transplant approach to study the role of viruses in regulating greenhouse gas emissions and prokaryotic communities. The results showed that the addition of viruses has a strong impact on methane (CH) and nitrous oxide (NO) emissions and, to a minor extent, carbon dioxide (CO) emissions, along with dissolved carbon and nitrogen pools, depending on soil fertilization history.

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Electrical stimulation: a potential alternative to positively impact cerebral health?

Front Physiol

September 2024

INSERM UMR 1093 - Laboratoire CAPS, « Cognition, Action et Plasticité Sensorimotrice », Université de Bourgogne, Dijon, France.

An increasing body of evidence confirms the effectiveness of physical exercise (PE) in promoting brain health by preventing age-related cognitive decline and reducing the risk of neurodegenerative diseases. The benefits of PE are attributed to neuroplasticity processes which have been reported to enhance cerebral health. However, moderate to high-intensity PE is necessary to induce these responses and these intensities cannot always be achieved especially by people with physical limitations.

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Article Synopsis
  • There has been a significant increase in pesticide use worldwide to meet the growing food demand, with variation in usage rates across different regions from 1995 to 2020.
  • A 2016 IPBES assessment identified pesticides as a major factor in the decline of pollinators, noting that most studies focused on specific species in developed countries.
  • The analysis includes forecasts showing increasing pesticide use in Africa, South America, and various Asian regions, while addressing the lack of research on the impact of pesticides on pollinators and suggesting conservation efforts.
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Emerging infectious diseases pose a threat to pollinators. Virus transmission among pollinators via flowers may be reinforced by anthropogenic land-use change and concomitant alteration of plant-pollinator interactions. Here, we examine how species' traits and roles in flower-visitation networks and landscape-scale factors drive key honeybee viruses-black queen cell virus (BQCV) and deformed wing virus-in 19 wild bee and hoverfly species, across 12 landscapes varying in pollinator-friendly (flower-rich) habitat.

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Background: Diabetic foot ulcers are chronic, difficult to heal, and potentially life-threatening. Few medical devices have been studied in diabetic ulcers penetrating to bone or tendon.

Methods: We conducted an international, open-label randomized controlled trial, randomly assigning patients with diabetic ulcers penetrating to bone, joint, or tendon 1:1 to intact fish skin graft or standard wound care, with assigned treatment applied through 14 weeks.

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Conceptual biogeographic frameworks have proposed that the relative contribution of environmental and geographical factors on microbial distribution depends on several characteristics of the habitat (e.g. environmental heterogeneity, species diversity, and proportion of specialist/generalist taxa), all of them defining the degree of habitat specificity, but few experimental demonstrations exist.

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This study aimed to investigate the behavior of smart bilayer films under various temperature and relative humidity (RH). Smart bilayer films were fabricated using sodium alginate with incorporated butterfly pea anthocyanin and agar containing catechin-lysozyme. Cellulose nanospheres were added at concentrations of 0% and 10% w/w of the film and subjected to test at 4 °C and 25 °C, considering different RHs (0%, 50%, and 80%).

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