1,314 results match your criteria: "Centre de Génétique et Pathologie[Affiliation]"

Background: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into four molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis.

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Patients with Parkinson's disease (PD) notably exhibit impairments in posture and visual attention. The objective of the present study was to determine whether PD patients were able to exhibit adaptive postural control in a goal-directed visual task. We hypothesized that the patients would reduce their centre of pressure (COP) movement and/or postural sway to a lesser extent than age-matched controls in the goal-directed visual (search) task, compared with the control free-viewing task (i.

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Surgical pathology and sustainable development: international landscape and prospects.

J Clin Pathol

December 2024

Department of Surgical Pathology, CHU de Bordeaux Pôle biologie et pathologie, Bordeaux, France.

The healthcare sector significantly contributes to global greenhouse gas emissions, with surgical pathology (SP) playing a notable role. This review explores the ecological transformation of SP, offering a global overview of existing challenges and sustainable initiatives worldwide.While some countries, such as the UK and France, have developed national strategies to reduce the carbon footprint of healthcare, including SP, many regions remain at an early stage of implementing green practices.

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Background: There is considerable practice variation in labelling, diagnosis and treatment of adults with sterile bone inflammation. We developed a expert consensus recommendations on the disease definition, diagnosis and treatment of this rare condition.

Methods: Systematic literature review and Grading of Recommendations, Assessment, Development and Evaluations-based appraisal of evidence, two Delphi surveys and three digital and in-person consensus meetings with a multidisciplinary expert panel and patient representatives.

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Pathogen-pathogen interactions represent a critical but little-understood feature of infectious disease dynamics. In particular, experimental evidence suggests that influenza virus and respiratory syncytial virus (RSV) compete with each other, such that infection with one confers temporary protection against the other. However, such interactions are challenging to study using common epidemiologic methods.

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Metabolite quantification data based on H-NMR profiling of eggplant or pepper fruit during its development.

BMC Res Notes

November 2024

INRAE, Univ. Bordeaux, Biologie du Fruit et Pathologie, UMR 1332, Centre INRAE de Nouvelle Aquitaine, Bordeaux, 33140, Villenave d'Ornon, France.

Article Synopsis
  • The study focuses on the metabolite contents of ripe peppers and eggplants, emphasizing the differences and similarities in their development compared to tomatoes.
  • Researchers collected and quantified various polar metabolites from fruit samples at different growth stages, using advanced nuclear magnetic resonance technology.
  • A total of 24 metabolites in pepper and 27 in eggplant were identified, with 19 shared between the two, providing a foundation for further research on fruit metabolism across different species.
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Introduction: A better understanding of the physiological response of silage maize to a mild reduction in nitrogen (N) fertilization and the identification of predictive biochemical markers of N utilization efficiency could contribute to limit the detrimental effect of the overuse of N inputs.

Objectives: We integrated phenotypic and biochemical data to interpret the physiology of maize in response to a mild reduction in N fertilization under agronomic conditions and identify predictive leaf metabolic and proteic markers that could be used to pilot and rationalize N fertilization.

Methods: Eco-physiological, developmental and yield-related traits were measured and complemented with metabolomic and proteomic approaches performed on young leaves of a core panel of 29 European genetically diverse dent hybrids cultivated in the field under non-limiting and reduced N fertilization conditions.

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Introduction: rearrangements occur in 1% to 2% NSCLCs. Since no clinically validated RET antibody is currently available, fluorescence in situ hybridization (FISH) is often used as a screening tool to identify patients likely to benefit from RET-targeted therapy. In this study, we performed a comprehensive review of publications in which -rearrangement testing was performed by FISH and compared the methods and results with our data.

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[Not Available].

Bull Cancer

October 2024

Département de biologie et pathologie médicales, laboratoire de pathologie morphologique, Gustave Roussy Cancer Campus, F-94805 Villejuif, France. Electronic address:

WHO CLASSIFICATION 2022, BETHESDA SYSTEM 2023, MOLECULAR BIOLOGY AND MOLECULAR TESTING: Thyroid pathology has experienced significant advances with the publication of the 5th edition of the World Health Organization classification of endocrine tumors in 2022 and the third edition of the Bethesda system for thyroid cytopathology in 2023. At the same time, the availability of next-generation sequencing data coupled with numerous translational research projects have considerably increased our knowledge of the genomics and mechanics of thyroid cancers, enabling us to refine prognosis and propose new targeted therapies. In this review, we will take up the main new features of the WHO 2022 and Bethesda 2023 classifications, as well as molecular biology findings, with an emphasis on the practical implications for clinicians.

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Chromosomal abnormalities in oocyte donor candidates: a French survey of over 8,200 karyotypes.

Fertil Steril

October 2024

CECOS et Biologie de la reproduction, Hôpital Jean Verdier, Hôpitaux Universitaires Paris Seine-Saint-Denis, AP-HP, Université Sorbonne Paris Nord, Villetaneuse, France; INSERM U1016-Equipe "Génomique, Epigénétique et Physiologie de la Reproduction," Institut Cochin, Université Paris Descartes-Paris, Paris, France.

Objective: To study karyotypes of >8,200 oocyte donor candidates in nulliparous or multiparous women compared with a reference population.

Design: A retrospective observational multicentric study.

Setting: University Hospital Centers.

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[Direct Oral Anticoagulants in elderly with multimorbidity: what precautions?].

Rev Med Suisse

October 2024

Centre universitaire de traitement et de réadaptation gériatrique, Service de gériatrie, Département de médecine, Centre hospitalier universitaire vaudois, 1011 Lausanne.

Article Synopsis
  • - Elderly patients with multiple health issues are more likely to experience problems from direct oral anticoagulants (DOAC), especially if they have kidney issues, are very old or underweight, or take many medications.
  • - A medication review and assessment of DOAC use can help identify those at risk for bleeding, utilizing the expertise of coagulation specialists and specific blood tests to measure drug levels and clotting indicators.
  • - If DOAC-related issues are found, experts can recommend tailored solutions, like reducing the dosage or switching to a different anticoagulant medication.
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Objective: Lung cancer remains the leading cause of cancer-related mortality worldwide, with most cases diagnosed at advanced stages. Hence, there is a need to develop effective predictive models for early detection. This study aims to investigate the impact of imaging parameters and delta radiomic features from temporal scans on lung cancer risk prediction.

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A French multicenter analytical evaluation of the automated Lumipulse G sNfL blood assay (Fujirebio®) and its comparison to four other immunoassays for serum neurofilament light chain assessment in clinical settings.

Clin Chim Acta

January 2025

Biochimie et Biologie Moléculaire-LBMMS, Unité de diagnostic des pathologies dégénératives, Centre de Biologie et Pathologie Est, Groupement Hospitalier Est, Lyon, France; Equipe BIORAN, Centre de Recherche en Neurosciences de Lyon, CNRS UMR 5292, INSERM U1028, Université Lyon 1, Bron, France.

Objectives: Measurement of serum neurofilament light chain (sNfL) protein is becoming a key biomarker for many neurological diseases. Several immunoassays have been developed to meet these clinical needs, revealing significant differences in terms of variability and results. Here, we propose a French multicenter comparison of 5 sNfL assays.

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The morbidity of aneurysmal subarachnoid hemorrhage (aSAH) remains high, particularly because of secondary cerebral lesions that significantly aggravate the primary lesions. The main type of secondary lesions is delayed cerebral ischemia (DCI), in which platelets (PLT) appear to play a key role. Mean platelet volume (MPV) is an indirect marker of platelet activation.

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Comparative analysis of iPSC-derived NK cells from two differentiation strategies reveals distinct signatures and cytotoxic activities.

Front Immunol

October 2024

Institut National de la Santé et de la Recherche Médicale (INSERM), Unité Mixte de Recherche en Santé (UMR-S-1310), Villejuif, France.

Purpose: The ability to generate natural killer (NK) cells from induced pluripotent stem cells (iPSCs) has given rise to new possibilities for the large-scale production of homogeneous immunotherapeutic cellular products and opened new avenues towards the creation of "off-the-shelf" cancer immunotherapies. However, the differentiation of NK cells from iPSCs remains poorly understood, particularly regarding the ontogenic landscape of iPSC-derived NK (iNK) cells produced and the influence that the differentiation strategy employed may have on the iNK profile.

Methods: To investigate this question, we conducted a comparative analysis of two sets of iNK cells generated from the same iPSC line using two different protocols: (i) a short-term, clinically compatible feeder-free protocol corresponding to primitive hematopoiesis, and (ii) a lymphoid-based protocol representing the definitive hematopoietic step.

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Article Synopsis
  • Systemic sclerosis (SSc) is a severe disease linked to high mortality rates, primarily due to related health issues known as comorbidities, which were analyzed in this study to create a 'comorbidome.'
  • The study involved 400 patients, revealing that specific conditions like cancer, heart disease, and multiple medications significantly contributed to mortality rates.
  • The findings emphasized the importance of these comorbidities, although the study's small sample size suggests the need for further research to validate the results and possibly develop a mortality risk assessment tool.
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Article Synopsis
  • A study conducted in France during the 2023-24 RSV season analyzed the effectiveness of nirsevimab, a monoclonal antibody, in preventing RSV infections in infants, focusing on breakthrough cases.
  • Out of 695 RSV-infected infants, researchers sequenced the full-length RSV genome of 545 infants, identifying that 48% had breakthrough infections despite receiving nirsevimab.
  • While no resistance was found in RSV-A infections from nirsevimab-treated infants, two cases of RSV-B showed substitutions linked to resistance, indicating a potential concern for the antibody's effectiveness against this variant.
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Aim: To describe the impact of paediatric myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) on academic and cognitive outcomes.

Method: This was an observational, retrospective, and descriptive single-centre study, carried out on a paediatric case series of children with MOGAD.

Results: A total of 51 patients were included (22 females); their median age was 8 years and the median follow-up duration was 31.

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Article Synopsis
  • - Myeloid sarcoma (MS) is a rare condition related to acute myeloid leukemia (AML) that can appear as an initial symptom, a progression, or a recurrence of the disease, commonly found in bones but sometimes affecting the ENT area.
  • - These cases can mimic common illnesses, which can delay diagnosis and treatment, highlighting the challenges faced in clinical practice.
  • - Diagnosis involves a thorough patient history, clinical examination, and targeted imaging (CT/MRI) along with biopsy and marrow puncture, with chemotherapy being the recommended treatment that needs to be started quickly.
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Circulating Proteins Associated with Anti-IL6 Receptor Therapeutic Resistance in the Sera of Patients with Severe COVID-19.

J Proteome Res

November 2024

Département des Innovations Thérapeutiques et des Essais Précoces (DITEP), Gustave Roussy, Université Paris-Saclay, Villejuif 94800, France.

Article Synopsis
  • Circulating proteomes can reveal the body's response to diseases like COVID-19 and treatments like tocilizumab, which is used to mitigate severe symptoms.
  • In a study involving 28 hospitalized COVID-19 patients treated with tocilizumab, researchers collected serum samples to analyze changes in protein levels before and after treatment and assessed patient outcomes for 30 days.
  • Findings indicated that specific proteins related to the complement system and Fc-epsilon receptor signaling could predict treatment success and mortality, where high complement activation linked to worse outcomes and certain signaling pathways showed lower mortality rates.
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During embryogenesis, cells arrange into precise patterns that enable tissues and organs to develop specialized functions. Despite its critical importance, the molecular choreography behind these collective cellular behaviors remains elusive, posing a major challenge in developmental biology and limiting advances in regenerative medicine. By using the mouse hair follicle as a mini-organ system to study the formation of bud-like structures during embryonic development, our work uncovers a crucial role for the Rho GTPase regulator ARHGEF3 in hair follicle morphogenesis.

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Beyond movement: expanding functional landscape of luteovirus movement proteins.

Trends Plant Sci

December 2024

UMR Biologie du Fruit et Pathologie, INRAE, Université de Bordeaux, 33882, Villenave d'Ornon, France. Electronic address:

Viruses explore the potential multifunctional capacity of the proteins encoded in their compact genome to establish infection. P4 of luteoviruses has emerged as one such multifunctional protein. Expressed from an open reading frame (ORF) nested within coat protein ORF, it displays diverse subcellular localizations and interactions, reflecting its complex role in virus infection.

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Standardized emergency protocols to improve the management of patients with suspected or confirmed inherited metabolic disorders (IMDs): An initiative of the French IMDs Healthcare Network for Rare Diseases.

Mol Genet Metab

October 2024

Centre de référence des maladies héréditaires du métabolisme, Hôpital Universitaire Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), Institut Imagine, Université Paris Cité, 75015 Paris, France; Filière nationale de santé maladies rares G2M-Maladies Héréditaires du Métabolisme, France; MetabERN: European Reference Network for Rare Hereditary Metabolic Disorders, France; INSERM, Institut Necker-Enfants Malades, 75015 Paris, France. Electronic address:

Objectives: Patients with inherited metabolic disorders (IMDs) may require emergency hospital care to prevent life-threatening situations such as metabolic decompensation. To date, over one thousand different rare IMDs have been identified, which means that healthcare professionals (HCPs) initiating emergency treatment may not be familiar with these conditions. The objective of this initiative was to provide HCPs with practical guidance for the acute management of children and adults with IMDs who need emergency care, regardless of the underlying reason.

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