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233 results match your criteria: "and Paris Descartes University[Affiliation]"
Hum Genet
December 2024
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, Paris, 75015, France.
Ocular coloboma (OC) is a congenital disorder caused by the incomplete closure of the embryonic ocular fissure. OC can present as a simple anomaly or, in more complex forms, be associated with additional ocular abnormalities. It can occur in isolation or as part of a broader syndrome, exhibiting considerable genetic heterogeneity.
View Article and Find Full Text PDFInt J Mol Sci
June 2024
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Leber congenital amaurosis (LCA)/early-onset severe retinal dystrophy (EOSRD) stand as primary causes of incurable childhood blindness. This study investigates the clinical and molecular architecture of syndromic and non-syndromic LCA/EOSRD within a Chilean cohort (67 patients/60 families). Leveraging panel sequencing, 95.
View Article and Find Full Text PDFBrain Pathol
November 2024
Department of Neuropathology, GHU Paris-Psychiatrie et Neurosciences, Sainte-Anne Hospital, Paris, France.
Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated.
View Article and Find Full Text PDFJ Allergy Clin Immunol Pract
May 2024
INFINITY-Toulouse Institute for Infectious and Inflammatory Diseases, INSERM UMR1291- CNRS UMR5051- University Toulouse III, Toulouse, France; Department of Dermatology and Mastocytosis Expert Centre (CEREMAST), Toulouse University Hospital and University Toulouse III, Toulouse, France.
Background: Systemic mastocytosis (SM) is a clonal disorder of mast cells (MCs) frequently associated with vertebral osteoporosis (OP) and subsequent vertebral fractures (VFs). The natural history of this OP remains unclear. Importantly, we do not know whether OP represents an early event triggered alongside MC abnormalities, and whether MC clonality is sufficient to trigger osteoporosis.
View Article and Find Full Text PDFUnlabelled: Patients with H3K27M-mutant diffuse midline glioma (DMG) have no proven effective therapies. ONC201 has recently demonstrated efficacy in these patients, but the mechanism behind this finding remains unknown. We assessed clinical outcomes, tumor sequencing, and tissue/cerebrospinal fluid (CSF) correlate samples from patients treated in two completed multisite clinical studies.
View Article and Find Full Text PDFCell Rep
August 2023
Department of Neuroscience, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address:
Protocadherins (PCDHs) are cell adhesion molecules that regulate many essential neurodevelopmental processes related to neuronal maturation, dendritic arbor formation, axon pathfinding, and synaptic plasticity. Biallelic loss-of-function variants in PCDH12 are associated with several neurodevelopmental disorders (NDDs). Despite the highly deleterious outcome resulting from loss of PCDH12, little is known about its role during brain development and disease.
View Article and Find Full Text PDFRespir Care
June 2023
Department of Intensive-Resuscitation Medicine, APHP, Hôpital Saint-Louis, Paris Diderot Sorbonne Université, Paris, France.
Background: Acute respiratory failure (ARF) remains the most frequent reason for ICU admission in patients who are immunocompromised. This study reports etiologies and outcomes of ARF in subjects with solid tumors.
Methods: This study was a post hoc analysis of the EFRAIM study, a prospective multinational cohort study that included 1611 subjects who were immunocompromised and with ARF admitted to the ICU.
Histopathology
March 2023
Department of Pathology, Dupuytren University Hospital, Limoges, France.
Aims: NTRK gene fusions have been described in a wide variety of central nervous system (CNS) and soft tissue tumours, including the provisional tumour type 'spindle cell neoplasm, NTRK-rearranged' (SCN-NTRK), added to the 2020 World Health Organisation Classification of Soft Tissue Tumours. Because of histopathological and molecular overlaps with other soft tissue entities, controversy remains concerning the lineage and terminology of SCN-NTRK.
Methods And Results: This study included 16 mesenchymal tumours displaying kinase gene fusions (NTRK fusions and one MET fusion) initially diagnosed as infantile fibrosarcomas (IFS), SCN-NTRK and adult-type fibrosarcomas from the soft tissue, viscera and CNS.
Resusc Plus
June 2022
Anesthesiology and Intensive Care Unit, Military Training Hospital Percy, Clamart, France.
Background: In 2016, three European scientific societies called for standardization to the "2222" as a European unique phone number in case of in-hospital emergencies. This study describes the management of in-hospital emergency calls in all French military training hospitals and aims to detail their original transition, for the first time in France, to the "2222".
Methods: An electronic standardized questionnaire was emailed to heads of rapid response teams in the eight French military training hospitals.
Acta Neuropathol
April 2022
Laboratory of Somatic Genetics, Curie Institute Hospital, Paris, France.
Eur J Cancer
December 2021
Department of Medical Oncology, Gustave Roussy, Université Paris Saclay, 114 Rue Edouard Vaillant, 94805 Villejuif, France.
Background: Breast cancer may present genomic alterations leading to homologous recombination deficiency (HRD). PARP inhibitors have proven their efficacy in patients with HER2-negative (HER2-) metastatic breast cancer (mBC) harbouring germline (g) BRCA1/2 mutations in 3 phases III trials. The single-arm phase II RUBY trial included 42 patients, 40 of whom received at least one dose of rucaparib.
View Article and Find Full Text PDFActa Neuropathol Commun
October 2021
Department of Neuropathology, GHU Paris - Psychiatry and Neuroscience, Sainte-Anne Hospital, 1 Rue Cabanis, 75014, Paris, France.
Infect Dis Now
August 2021
Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine; AP-HP, Hôpital Européen George-Pompidou, Service de Psychiatrie et Addictologie de l'adulte et du sujet âgé; Inserm, U1266, Institut Psychiatrie et Neurosciences, Paris, France.
Introduction: Attendance at face-to-face courses is low in the 2nd and 3rd years of medical school in France, possibly because of a lack of interactivity. We used Moodle (an open-source course management system) to introduce blended learning on Infectious Diseases and Microbiology through interactive quizzes and sessions of online-based continuous assessment. This pre-post observational study assessed changes in students' attendance and student as well as teacher satisfaction.
View Article and Find Full Text PDFGenes (Basel)
April 2021
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Iris integrity is required to regulate both the amount of light reaching the retina and intraocular pressure (IOP), with elevated IOP being a major risk factor for glaucoma. Congenital microcoria (MCOR) is an extremely rare, autosomal dominant disease affecting iris development and hindering both of these functions. It is characterized by absent or underdeveloped dilator muscle fibers and immaturity of the iridocorneal angle-where the aqueous humor is drained-which play a central role in IOP regulation.
View Article and Find Full Text PDFGenes (Basel)
April 2021
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetic Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Pathological variants in the nuclear malonyl-CoA-acyl carrier protein transacylase () gene, which encodes a mitochondrial protein involved in fatty-acid biogenesis, have been reported in two siblings from China affected by insidious optic nerve degeneration in childhood, leading to blindness in the first decade of life. After analysing 51 families with negative molecular diagnostic tests, from a cohort of 200 families with hereditary optic neuropathy (HON), we identified two novel mutations in a female patient who presented with acute, sudden, bilateral, yet asymmetric, central visual loss at the age of 20. This presentation is consistent with a Leber hereditary optic neuropathy (LHON)-like phenotype, whose existence and association with and has only recently been described.
View Article and Find Full Text PDFGenes (Basel)
February 2021
Laboratory of Genetics in Ophthalmology (LGO), INSERM UMR1163, Institute of Genetics Diseases, Imagine and Paris Descartes University, 75015 Paris, France.
Leber congenital amaurosis (LCA) encompasses the earliest and most severe retinal dystrophies and can occur as a non-syndromic or a syndromic disease. Molecular diagnosis in LCA is of particular importance in clinical decision-making and patient care since it can provide ocular and extraocular prognostics and identify patients eligible to develop gene-specific therapies. Routine high-throughput molecular testing in LCA yields 70%-80% of genetic diagnosis.
View Article and Find Full Text PDFNat Med
February 2021
Department of Medical Oncology, Gustave Roussy, Université Paris Saclay, Villejuif, France.
The impact of single-agent antibodies against programmed death-ligand 1 (PD-L1) as maintenance therapy is unknown in patients with metastatic breast cancer. The SAFIR02-BREAST IMMUNO substudy included patients with human epidermal growth factor receptor type 2 (Her2)-negative metastatic breast cancer whose disease did not progress after six to eight cycles of chemotherapy. Patients (n = 199) were randomized to either durvalumab (10 mg kg every 2 weeks) or maintenance chemotherapy.
View Article and Find Full Text PDFTrials
October 2020
Department of Clinical Sciences Lund, Anesthesia & Intensive Care, Lund University, Helsingborg Hospital, Lund, Sweden.
Background: To date, targeted temperature management (TTM) is the only neuroprotective intervention after resuscitation from cardiac arrest that is recommended by guidelines. The evidence on the effects of TTM is unclear.
Methods/design: The Targeted Hypothermia Versus Targeted Normothermia After Out-of-hospital Cardiac Arrest (TTM2) trial is an international, multicentre, parallel group, investigator-initiated, randomised, superiority trial in which TTM with a target temperature of 33 °C after cardiac arrest will be compared with a strategy to maintain normothermia and active treatment of fever (≥ 37.
Biomed Res Int
April 2021
Pathogenesis and Control of Chronic Infections, University of Montpellier, Inserm U1058, Etablissement Français du Sang, Montpellier University Hospital, 60 Rue de Navacelles, 34394 Montpellier, France.
People who inject drugs (PWID) are a dominant risk group afflicted by blood-borne viruses, mental health disorders, and social precariousness. Risk reduction interventions are administered to PWID regardless of their characteristics or specific risks. The objective of this cross-sectional analysis was to empirically identify profiles of PWID regarding their drug use, risk behaviors, and mental health in order to tailor adapted interventions taking into account limited access to comprehensive care in middle-income countries.
View Article and Find Full Text PDFClin Drug Investig
November 2020
Institut de Recherches Internationales Servier (IRIS), 50 Rue Carnot, 92284, Suresnes Cedex, France.
Background And Objectives: Non-interventional studies are a valuable source of evidence that is complementary to traditional randomised, blinded and controlled clinical trials, for evaluating antidepressants in a real-world setting. The aim of the present study was to document the use of agomelatine in current medical practice and evaluate its effectiveness and safety in outpatients prescribed agomelatine to treat their current depressive episode.
Methods: This 12-month observational French study included patients initiating agomelatine treatment.
Clin Kidney J
June 2020
Medical Intensive Care Unit, Cochin Hospital (AP-HP), Paris, France.
Background: Acute kidney injury (AKI) is frequent in patients resuscitated from cardiac arrest (CA) and may worsen outcome. Experimental data suggest a renoprotective effect by treating these patients with a high dose of erythropoietin (Epo) analogues. We aimed to evaluate the efficacy of epoetin alpha treatment on renal outcome after CA.
View Article and Find Full Text PDFPLoS One
August 2020
Univ Angers, CHU Angers, Univ Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail) - UMR_S 1085, Angers, France.
Objective: To investigate the effects of co-exposure to biomechanical wrist stressors and chemicals on the risk of CTS in a large cohort of French workers.
Methods: Prospective study using the data collected at baseline and at the first 12 month-follow-up for the 18,018 participants included in the population-based Constances cohort between 2012 and 2015. CTS at follow-up and exposure to biomechanical wrist stressors and chemicals at baseline were assessed using a self-administered questionnaire.
Eur J Cancer
August 2020
Gustave Roussy, Villejuif, France.
Background: The phase I component of a phase I/II study defined the recommended phase II dose and established the tolerability of nab-paclitaxel monotherapy in paediatric patients with recurrent or refractory solid tumours. The activity and safety of nab-paclitaxel monotherapy was further investigated in this phase II study.
Patients And Methods: Paediatric patients with recurrent or refractory Ewing sarcoma, neuroblastoma or rhabdomyosarcoma received 240 mg/m of nab-paclitaxel on days 1, 8 and 15 of each 28-day cycle.
Soc Sci Med
July 2022
Cermes3 : INSERM, U 988, CNRS, UMR 8211, EHESS and Paris Descartes University, France. Electronic address:
Non-invasive prenatal testing (NIPT) is grounded in the analysis of free circulating fetal DNA (cfDNA) in pregnant women's blood. The rolling out of this screening method was in large part driven by commercial firms, which hoped to reach a huge potential market by offering a test that was expected to be risk-free, reliable, inexpensive, and able to detect a wide range of genetic traits of the future child. To date, most predictions about the scope and uses of NIPT have not materialized: in 2020 NIPT detects only a limited number of genetic anomalies, while results have to be confirmed by amniocentesis.
View Article and Find Full Text PDFBMJ Open
June 2020
Department of Epidemiology of Health Products, French National Agency for Medicines and Health Products Safety, Saint-Denis, France.
Objectives: To assess the association between prenatal exposure to monotherapy with the antiepileptic drugs (AEDs) most commonly used during pregnancy and the risk of various neurodevelopmental outcomes compared with lamotrigine.
Design: Nationwide population-based cohort study.
Setting: French national healthcare databases.