1,314 results match your criteria: "Centre de Génétique et Pathologie[Affiliation]"
Neuro Oncol
December 2024
Genetics Department, Institut Curie, Paris, France.
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.
View Article and Find Full Text PDFEur J Neurosci
January 2025
Unité INSERM 1172, Faculté de Médecine, Université de Lille, Lille, France.
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.
View Article and Find Full Text PDFJ 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.
View Article and Find Full Text PDFAnn Rheum Dis
November 2024
Center for Bone Quality, Leiden University Medical Center, Leiden, The Netherlands.
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.
Nat Commun
November 2024
Max Planck Institute for Infection Biology, Infectious Disease Epidemiology group, Charitéplatz 1, Campus Charité Mitte, 10117, Berlin, Germany.
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.
View Article and Find Full Text PDFPediatr Blood Cancer
February 2025
Division of Pediatric Hematology/Oncology, CHU de Québec - Université Laval, Québec City, Québec, Canada.
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.
Metabolomics
November 2024
INRAE, Univ. Bordeaux, Biologie du Fruit et Pathologie, UMR1332, Centre INRAE de Nouvelle-Aquitaine Bordeaux, 33140, Villenave d'Ornon, France.
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.
JTO Clin Res Rep
December 2024
Medical Affairs - Oncology, Eli Lilly (Suisse) S.A., Dubai, United Arab Emirates.
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.
View Article and Find Full Text PDFBull 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.
View Article and Find Full Text PDFFertil 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.
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.
Cancer Med
October 2024
Centre de Recherche du CHU de Québec, Université Laval, Canada.
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.
View Article and Find Full Text PDFClin 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.
View Article and Find Full Text PDFSci Rep
October 2024
Département d'Anesthésie et Réanimation, Hopital Neurologique Pierre Wertheimer, Hospices Civils de Lyon (Lyon University Hospital), 59 Boulevard Pinel Bron, Lyon, 69500, France.
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.
View Article and Find Full Text PDFFront 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.
Rev Prat
October 2024
Service de neurologie et pathologie du mouvement, centre expert Parkinson. Hôpital Roger-Salengro, Lille, France.
RMD Open
October 2024
Rhumatologie, CHU de Bordeaux, Bordeaux, France.
Lancet Infect Dis
October 2024
Virology Department, Hôpital Ambroise Paré, Paris, France. Electronic address:
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.
Rev Med Suisse
October 2024
Service d'ORL et de chirurgie cervicofaciale, Centre hospitalier universitaire vaudois, 1011 Lausanne.
J Proteome Res
November 2024
Département des Innovations Thérapeutiques et des Essais Précoces (DITEP), Gustave Roussy, Université Paris-Saclay, Villejuif 94800, France.
bioRxiv
September 2024
Centre de recherche du CHU de Québec - Université Laval, axe Oncologie, Québec, Canada.
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.
View Article and Find Full Text PDFTrends 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.
View Article and Find Full Text PDFMol 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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