Auswahl der wissenschaftlichen Literatur zum Thema „Médecine fonctionnelle de précision“
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Zeitschriftenartikel zum Thema "Médecine fonctionnelle de précision"
Bibeau, Frédéric, und Jean-Christophe Sabourin. „Médecine de précision, médecine de décision“. Annales de Pathologie 34, Nr. 5 (Oktober 2014): 347–48. http://dx.doi.org/10.1016/j.annpat.2014.09.002.
Der volle Inhalt der Quellede Montgolfier, Sandrine. „Quand médecine de précision et médecine prédictive s’entrecroisent“. Cahiers Droit, Sciences & Technologies, Nr. 8 (13.03.2019): 31–40. http://dx.doi.org/10.4000/cdst.673.
Der volle Inhalt der QuelleGlauzy, Antoine, Bernard Baertschi und Jean-Charles Duclos-Vallée. „Le consentement médical à l’ère de la médecine de précision“. médecine/sciences 39, Nr. 8-9 (August 2023): 658–63. http://dx.doi.org/10.1051/medsci/2023093.
Der volle Inhalt der QuelleSchrenzel, Jacques, und Gilbert Greub. „Microbiote, médecine de précision et microbiologie“. Revue Médicale Suisse 13, Nr. 582 (2017): 1958. http://dx.doi.org/10.53738/revmed.2017.13.582.1958.
Der volle Inhalt der QuelleKiefer, Bertrand. „Médecine de précision, le nouveau mythe“. Revue Médicale Suisse 11, Nr. 464 (2015): 580. http://dx.doi.org/10.53738/revmed.2015.11.464.0580.
Der volle Inhalt der QuelleCornuz, Jacques, Nicolas Senn, Patrick Bodenmann und Philippe Staeger. „Bilan 2016 médecine de précision, médecine générale et ancrage communautaire“. Revue Médicale Suisse 12, Nr. 537 (2016): 1835–36. http://dx.doi.org/10.53738/revmed.2016.12.537.1835.
Der volle Inhalt der QuelleGasser, Jacques. „Vers une médecine de précision en psychiatrie ?“ Revue Médicale Suisse 12, Nr. 531 (2016): 1547. http://dx.doi.org/10.53738/revmed.2016.12.531.1547.
Der volle Inhalt der QuelleMarquet, Pierre, Pierre-Henry Longeray, Fabrice Barlesi, Véronique Ameye, Pascale Augé, Béatrice Cazeneuve, Etienne Chatelut et al. „Recherche translationnelle : médecine personnalisée, médecine de précision, thérapies ciblées : marketing ou science ?“ Therapies 70, Nr. 1 (Januar 2015): 1–10. http://dx.doi.org/10.2515/therapie/2014230.
Der volle Inhalt der QuelleDarrason, Marie. „Médecine de précision et médecine des systèmes: La médecine personnalisée se trompet-elle de cible ?“ Lato Sensu: Revue de la Société de philosophie des sciences 4, Nr. 2 (30.12.2017): 66–82. http://dx.doi.org/10.20416/lsrsps.v4i2.983.
Der volle Inhalt der QuelleCharafe-Jauffret, Emmanuelle. „Cellules souches des cancers et médecine de précision“. Bulletin du Cancer 104, Nr. 12 (Dezember 2017): 1088–90. http://dx.doi.org/10.1016/j.bulcan.2017.10.021.
Der volle Inhalt der QuelleDissertationen zum Thema "Médecine fonctionnelle de précision"
Boilève, Alice. „La médecine de précision dans le cancer du pancréas“. Electronic Thesis or Diss., université Paris-Saclay, 2024. http://www.theses.fr/2024UPASL013.
Der volle Inhalt der QuellePancreatic ductal adenocarcinoma (PDAC) is an increasingly common cancer with limited therapeutic options and a poor prognosis. Conventional chemotherapies have limited efficacy, emphasizing the need for new therapeutic approaches. Genomic precision medicine, made possible by advances in high-throughput sequencing technologies, has seen significant development in oncology over the past decade. However, the utility of molecular profiling in PDAC has not yet been established, despite improved overall survival when patients receive molecularly matched treatment. Functional precision medicine (FPM) is another promising strategy that relies on testing a panel of drugs on live tumor cells to identify the sensitivity and resistance profile of each tumor. Organoids are robust and promising tools for assessing a specific tumor's sensitivity to various drugs and identifying the best therapeutic option for each patient.Three axes were developed in this thesis. First, a translational axis evaluated the impact of organoids as tools for functional precision medicine in pancreatic cancer. The primary objective of this project was to establish a framework for integrating organoid-based drug sensitivity testing into the clinical management of PDAC patients. Organoid responses to a panel of anticancer drugs were correlated with clinical responses in patients, suggesting potential clinical benefits. Additionally, the contribution of organoids to preclinical studies was tested by assessing the efficacy of a KRASG12D inhibitor, MRTX1133, in monotherapy and in combination with other inhibitors. The combination of MRTX1133 and anti-EGFR proved to be the most promising.Secondly, a clinical axis assessed the impact of KRAS mutation in PDAC in terms of clinical and molecular characteristics, treatment response, and prognosis, particularly in cases where targeted treatment was received. Comparing non-mutated KRAS tumors to mutated KRAS tumors revealed clinical differences and better prognosis for non-mutated tumors. Furthermore, the impact of different KRAS mutated codons was studied by comparing KRASG12 mutated tumors versus other KRAS mutations. KRASG12 mutations were associated with a worse prognosis, although there was no difference in treatment sensitivity.Finally, a fundamental axis investigated the invasive phenotype of PDAC. A new "onco-morphogenetic" program was identified as a mediator of metastatic dissemination in colorectal cancers (CRC) through TSIPs (tumor spheres with reversed polarity, malignant tumor intermediates). The presence of TSIPs in pancreatic cancers was confirmed, and their transcriptional program and chemosensitivity were characterized using organoids. However, the clinical and prognostic impact of TSIP presence in pancreatic cancer appears to be minor.In conclusion, this doctoral project aimed to develop a comprehensive framework for the use of PDOs as a tool for modeling PDAC (fundamental axis), selecting personalized treatments, and conducting preclinical drug tests (translational and clinical axes). By bridging the gap between preclinical trials and clinical practice, this project aims to bring us closer to precision medicine in managing PDAC
Morice, Pierre-Marie. „Evaluation de la déficience de la recombinaison homologue et de la réponse des tumeurs ovariennes aux inhibiteurs de PARP grâce à l'utilisation de modèles de culture 3D en vue du développement d'un test prédictif Identifying eligible patients to PARP inhibitors: from NGS-based tests to promising 3D functional assays Automated scoring for assessment of RAD51-mediated homologous recombination in patient-derived tumor organoids of ovarian cancers Risk of myelodysplastic syndrome and acute myeloid leukemia related to PARP inhibitors: a combined approach using a safety meta-analysis of placebo randomized controlled trials and the World Health Organization's pharmacovigilance database The long non-coding RNA ‘UCA1’ modulates the response to chemotherapy of ovarian cancer through direct binding to miR-27a-5p and control of UBE2N levels“. Thesis, Normandie, 2020. http://www.theses.fr/2020NORMC414.
Der volle Inhalt der QuelleWorldwide each year, more than 150 000 women die from epithelial ovarian cancer largely due to emergence of resistance to chemotherapy. Approximately half of these cancers display molecular alterations that cause deficiency of DNA repair via homologous recombination (HRD), which confer sensitivity to PARP protein inhibitors (PARPi). To date, there is no test capable of fully identifying the HRD phenotype, thus limiting access to these treatments. In this context, we are developing functional assays based on the use of tumor explant slices and then, on the use of tumor organoids derived from ovarian tumors of chemotherapy-naive or previously treated patients. The culture of explants was unsuitable for this application and we then focused our work on tumor organoids. Tumor organoids were exposed to carboplatin (first-line treatment) and two PARP inhibitors (olaparib and niraparib) used for maintenance therapy. In parallel, we collected clinical data from patients (survival, platinum-free interval, RECIST, treatments) to evaluate the predictive potential of these models. The established tumor organoids responded heterogeneously to different drugs, and our results show that the organoid-based assay is capable of identifying patients highly resistant to carboplatin, suggesting that this functional assay could have a predictive value for patients treated with carboplatin. Regarding the potential of organoids in predicting PARPi response, multiple sensitivity profiles have been identified, but the correlation with clinical response has yet to be determined by studies conducted on tumor samples from patients treated with these drugs
Folon, Lise. „Étude de l'impact des variants génétiques rares sur l'obésité monogénique“. Electronic Thesis or Diss., Université de Lille (2022-....), 2023. https://pepite-depot.univ-lille.fr/ToutIDP/EDBSL/2023/2023ULILS059.pdf.
Der volle Inhalt der QuelleObesity is a complex multifactorial disease with a strong genetic component. Unlike common obesity, which is a polygenic disease, monogenic forms of obesity are caused by a single rare genetic variant with a strong and deleterious effect. These monogenic forms are rare, early-onset and generally very severe, affecting around 5% of individuals with obesity. Most rare mutations associated with monogenic obesity are found in genes within the leptin-melanocortin pathway, which is crucial for the regulation of food intake. Identifying these genes is crucial for understanding the pathophysiology of obesity and developing new treatments.I initially studied rare heterozygous variants of the PCSK1 gene, which encodes the prohormone convertase 1 (PC1/3) enzyme. PC1/3 is involved in the leptin-melanocortin pathway. Biallelic mutations in PCSK1 cause early-onset obesity with severe endocrinopathy. Patients with PCSK1 deficiency (heterozygous or homozygous) can now be treated with setmelanotide injections to promote weight loss. However, the impact of rare heterozygous variants of PCSK1 on obesity and their relevance in precision medicine are still not well-defined. In the RaDiO study, which included 9,320 participants, 65 rare heterozygous variants of PCSK1 were identified and assessed in vitro. These variants were classified into five groups based on the severity of their impact on the enzymatic activity of PC1/3. Association analysis results revealed that rare variants inducing a complete loss of function significantly increased the risk of obesity and body mass index (BMI), whereas variants in other groups with partial or neutral effects on PC1/3 activity had no impact on adiposity. We observed that in silico prediction tools were unreliable in detecting mutations leading to a complete loss of function.Subsequently, I focused on rare variants of the DYRK1B gene. Although this gene is not directly involved in the leptin-melanocortin pathway, pathogenic variants of DYRK1B have been described in several patients with central obesity, type 2 diabetes (T2D), and coronary artery disease. However, the impact of rare DYRK1B variants has not been assessed on a large scale. In the RaDiO study, which included 9,353 participants, 65 rare variants in DYRK1B were detected. Following in vitro analysis of each variant, we identified 20 pathogenic or likely pathogenic variants (P/LP) according to the criteria of the American College of Medical Genetics and Genomics. Among these P/LP variants, six showed an effect leading to a complete loss of function of DYRK1B (P/LP-full). Association analyses showed that P/LP-full variants of DYRK1B were strongly associated with increased BMI and fasting glucose levels, as well as a heightened risk of obesity and T2D, whereas P/LP variants had only a modest effect on adiposity and no impact on glucose homeostasis.In conclusion, the use of functional genetics has demonstrated that only heterozygous variants of PCSK1 and DYRK1B with a complete loss of function cause monogenic obesity. For DYRK1B, obesity is additionally associated with T2D. These results underscore the critical significance of assessing the functional impact of mutations in vitro for genetic diagnosis and the potential selection of appropriate treatments. We have demonstrated that in silico prediction tests are currently not precise enough
Commo, Frederic. „Analyse génomique en médecine de précision : Optimisations et outils de visualisation“. Thesis, Université Paris-Saclay (ComUE), 2015. http://www.theses.fr/2015SACLS132/document.
Der volle Inhalt der QuelleIn oncology, a new paradigm tries to impose itself ; analyzing patient’s tumors, and identifying molecular alterations matching with targeted therapies to guide a personalized therapeutic orientation. Here, We discuss the molecular alterations possibly relevant for a therapeutic orientation, as well as the methods used for their identification : among the alterations of interest, copy number variations are widely used, and we more specifically focus on comparative genomic hybridization (aCGH). We show, using well characterized cell lines, that identification of CNV is not trivial. In particular, the choice for centralizing profiles can be critical, and different strategies for adjusting profiles on a theoretical 2n baseline can lead to erroneous interpretations. Next, we show, using tumor samples, that a major consequence is to include, or miss, targetable alterations within the decision procedure. This work lead us to develop a comprehensive workflow, dedicated to aCGH analysis. This workflow supports the major aCGH platforms, ensure a full traceability of the entire process and provides interactive visualization tools to assist the interpretation. This workflow, called rCGH, has been implemented as a R package, and is available on Bioconductor. The interactive visualization tools are available on line, and are ready to be installed on any institutional server
Le, Collen Lauriane. „Médecine de précision du diabète de type 2 et des obésités génétiques“. Electronic Thesis or Diss., Université de Lille (2022-....), 2023. http://www.theses.fr/2023ULILS042.
Der volle Inhalt der QuelleThis scientific thesis delves deeply into critical health issues, specifically diabetes, obesity, and rare familial lipodystrophies. These health concerns hold immense importance due to their substantial medical and financial implications, impacting individuals, healthcare systems, and national economies. The central aim of this research was to harness the capabilities of next-generation sequencing (NGS), such as exome sequencing, to detect genetic mutations within genes already associated with these conditions in diagnostically challenging patients. It is now established that up to 2% of cases of type 2 diabetes can be attributed to pathogenic variants in genes related to Maturity-Onset Diabetes of the Young (MODY). This study sought to enhance the diagnostic process and optimize therapeutic management for these complex conditions while demonstrating the effectiveness of the sequencing approach in comprehensive disease management.In a first case, we showcased the significance of this approach by examining a patient with an atypical syndromic form of diabetes. Through in-depth genetic analysis using NGS, we identified a pathogenic heterozygous variant in the WFS1 gene inherited from the diabetic father. This discovery had a profound impact on the patient's treatment, highlighting the effectiveness of GLP1 analog therapy in optimizing diabetes management. Furthermore, our study investigated the impact of a de novo deletion in 16q24.2, which had the potential to affect the regulation of a neighboring gene, FOXC2, implicated in lymphedema-distichiasis syndrome. This case also raised questions about neurodevelopmental disorders, potentially linked to this deletion and a variant located in USP9X inherited from the patient's mother. These results underscore the critical importance of precise diagnosis in selecting appropriate treatments.In a second article, our research focused on the PDX1 gene, responsible for MODY 4, by analyzing heterozygous carriers of pathogenic variants. Our investigations revealed complete penetrance of diabetes, an increase in body mass index, and an elevated risk of pancreatic insufficiency in these individuals. Once again, the judicious use of GLP1 analogs proved beneficial in optimizing glycemic control.Next, we explored the case of a patient suffering from morbid obesity, presenting with combined pituitary deficiency and composite heterozygosity in POMC. This observation challenged the previous notion that heterozygosity in POMC could cause monogenic obesity. This reconsideration raises crucial questions about the effectiveness of targeted treatment with MC4R agonists in POMC heterozygotes, posing significant financial challenges for its use in this indication.Finally, we studied a large family with a severe metabolic syndrome associated with partial lipodystrophy. Genetic analysis revealed a variant in the ZMPSTE24 gene, previously identified in the same geographic region, raising the question of a founder variant. However, the contribution of this heterozygous variant to partial lipodystrophy remains to be confirmed, necessitating further studies to definitively establish its role.In conclusion, this thesis has highlighted the remarkable efficacy of next-generation sequencing in elucidating complex cases of atypical diabetes and obesity, shedding light on monogenic forms of these conditions. Moreover, this research expanded its investigations to the broader population through comprehensive literature reviews and analysis of various databases, including the Human Gene Mutation Database, RaDIO, and UK Biobank. We hope that these compelling results will encourage wider adoption of genetic sequencing, paving the way for increased customization of treatments based on patients' genotypes in the near future
El, Bacha Taib. „Apport des techniques de prototypage rapide pour la validation fonctionnelle des assemblages de précision“. Mémoire, Université de Sherbrooke, 2004. http://savoirs.usherbrooke.ca/handle/11143/1226.
Der volle Inhalt der QuelleAldrin, Katell. „Analyse biophysique des vésicules extracellulaires pour le diagnostic et la médecine de précision“. Electronic Thesis or Diss., Université Grenoble Alpes, 2023. http://www.theses.fr/2023GRALY102.
Der volle Inhalt der QuelleOver the past few years, nanoparticles have sparked a great interest in the biomedical field. Examples include lipid nanoparticles as drug delivery systems for targeted therapy or biological nanoparticles such as extracellular vesicles, which are released by all human cells. Extracellular vesicles have been shown to be involved in many physiological and pathological mechanisms, demonstrating their strong potential as new biomarkers for the early detection of a number of diseases using liquid biopsy. Precise characterization of such particles is of utmost importance, to ensure quality control of samples dedicated to clinical use, or simply to characterize their biophysical properties (size, density, stiffness, etc.). However, due to their nanometric size and their potential heterogeneity, standard methods are usually not sufficient to characterize properly such particles. Over the past few years, MEMS technologies such as Suspended Microchannel Resonators (SMR) have already proven their potential to characterize precisely microparticles, at a single cell level. Such sensors are composed of a hollow microcantilever beam containing a buried nanofluidic channel, suspended in a vacuum cavity. This configuration allows the fluid to be confined inside the resonator, thus maintaining its mechanical properties and low damping in its environment. As an individual nanoparticle flows through the channel, it induces a transient shift in resonance frequency, which is directly proportional to its buoyant mass. Using fabrication methods derived from microelectronics, microscale dimensions of SMR sensors allows them to weigh single cells or bacteria with a resolution of 1 fg (10^-15 g).The aim of this work is to use a miniaturized version of this technology, called SNR (Suspended Nanochannel Resonators), and to implement it to characterize lipid nanoparticles. Due to the reduced dimensions, it becomes possible to weigh single particles at the attogram scale (10^-18 g), such as 10-15 nm diameter gold nanoparticles. First, a test bench has been developed to conduct gold nanoparticle characterizations using this type of sensors. Then, this method has been challenged to weigh nanoparticles of biological origin, for which an efficient and robust passivation strategy is crucial to prevent non-specific adsorption of the sample to the channel walls. On the other hand, a new type of microfluidic architecture has been explored, containing two cantilevers connected in series, to measure the density of nanoparticles. Lastly, the test bench has been adapted to integrate and characterize miniaturized sensors, showing signs of enhanced sensitivity and a reduced limit of detection. In the future, the building blocks developed during this work could lead to a label-free, multiparametric characterization platform (mass, size, density, stiffness), using this unique technology to perform quality control measurements for bioproduction applications, to provide diagnostic or prognostic information, or to better understand physiological and pathological processes involving extracellular vesicles
Salem, Joe-Élie. „Pharmacologie de précision : approches pour l'évaluation pharmacodynamique et pharmacogénétique de médicaments cardiovasculaires“. Thesis, Paris 6, 2016. http://www.theses.fr/2016PA066491/document.
Der volle Inhalt der QuelleDrugs are chemical substances leading to pharmacodynamic responses through interactions with biological systems of variable complexity. For each individual, this response, whether desired or not, is variable and modulated by many parameters including the pharmacokinetic properties of the drug and pathophysiological, genetic and environmental factors. In this thesis, personalized medicine work were conducted to identify sources of variability in individual response to several cardiovascular drugs.In the first part, it is shown that parameters currently used in echocardiography (including E/e') to estimate non-invasively left ventricular filling pressures in patients with decompensated systolic heart failure, in order to guide depletion or filling therapeutics, are not reliable in case of concomitant use of inotropes.The second part details the pharmacodynamics modeling work that identified sources of variability altering the effect of amiodarone on heart rate control in the treatment of supra-ventricular arrhythmias in unstable patients admitted in Intensive Care. Co-administration of magnesium and fluid repletion improved the effectiveness of amiodarone to slow heart rate while the use of dobutamine had an opposite effect.The last part reported the results of a study where 1000 individuals were challenged by a same dose of sotalol in order to perform a genome-wide association study aiming at identifying genetic sources of variability of sotalol induced IKr block ventricular repolarization abnormalities in healthy subjects. Another study evaluating the impact of sex hormones on ventricular repolarization is also detailed
Bertrand, Julien. „Pathologie fonctionnelle en médecine générale : signification et approche relationnelle“. Montpellier 1, 2001. http://www.theses.fr/2001MON11002.
Der volle Inhalt der QuelleLefort, Sylvain. „Caractérisation fonctionnelle de la protéine K-bZIP de l'herpèsvirus humain 8“. Thesis, Université Laval, 2009. http://www.theses.ulaval.ca/2009/26066/26066.pdf.
Der volle Inhalt der QuelleBücher zum Thema "Médecine fonctionnelle de précision"
Peterson, Lars. Manuel du sportif blessé: Prévention, rééducation fonctionnelle et réhabilitation. Paris: Vigot, 1986.
Den vollen Inhalt der Quelle findenDAUVERGNE, Gilles. Médecine Fonctionnelle de L'Objet. Independently Published, 2017.
Den vollen Inhalt der Quelle findenHUGUET-H-A-B. Exposé de médecine homoeodynamique basée sur la loi de similitude fonctionnelle. HACHETTE LIVRE-BNF, 2018.
Den vollen Inhalt der Quelle findenBuchteile zum Thema "Médecine fonctionnelle de précision"
Lassau, N. „Traitement personnalisé selon l’imagerie fonctionnelle“. In Médecine personnalisée en cancérologie digestive, 29–38. Paris: Springer Paris, 2013. http://dx.doi.org/10.1007/978-2-8178-0527-6_3.
Der volle Inhalt der Quellede Boissezon, Xavier, Évelyne Castel-Lacanal, Jean-François Demonet, François Chollet und Philippe Marque. „Mécanismes cérébraux de la rééducation: apport de l’imagerie fonctionnelle“. In Accident vasculaire cérébral et médecine physique et de réadaptation: Actualités en 2010, 27–36. Paris: Springer Paris, 2010. http://dx.doi.org/10.1007/978-2-8178-0109-4_5.
Der volle Inhalt der QuelleLacaze-Paule, C. „Dans un centre de rééducation fonctionnelle“. In Le Psychologue en Service De Médecine, 71–92. Elsevier, 2011. http://dx.doi.org/10.1016/b978-2-294-71074-2.00006-x.
Der volle Inhalt der QuelleTruscelli, Danièle, und Élisabeth Zucman. „8. Les savoirs de la médecine de réadaptation fonctionnelle“. In Handicap, une encyclopédie des savoirs, 145. ERES, 2014. http://dx.doi.org/10.3917/eres.gardo.2014.01.0145.
Der volle Inhalt der QuelleVézian, Audrey. „5. Le rôle contesté des pathologistes dans la médecine de précision“. In Les politiques de lutte contre le cancer en France, 99–117. Presses de l’EHESP, 2019. http://dx.doi.org/10.3917/ehesp.caste.2019.01.0099.
Der volle Inhalt der QuelleBévalot, Caroline, und Frédéric Haesebaert. „III. Le diagnostic de risque de psychose : témoin d’une médecine personnalisée et de précision“. In Promesses et limites de la psychiatrie de précision, 89–122. Hermann, 2023. http://dx.doi.org/10.3917/herm.gauld.2023.01.0089.
Der volle Inhalt der QuelleGocko, Xavier. „Le patient présentant des plaintes médicalement inexpliquées, des plaintes d'origine fonctionnelle, des plaintes somatiques inexpliquées“. In Médecine Générale pour le Praticien, 279–84. Elsevier, 2022. http://dx.doi.org/10.1016/b978-2-294-76710-4.00029-2.
Der volle Inhalt der QuelleCASTELLO, R., J. SAMY, M. CHINELLATO und L. AIGLE. „Douze ans d’admission en hospitalisation au Centre médical des armées de CALVI“. In Médecine et Armées Vol. 44 No.4, 373–82. Editions des archives contemporaines, 2016. http://dx.doi.org/10.17184/eac.6829.
Der volle Inhalt der QuelleKonferenzberichte zum Thema "Médecine fonctionnelle de précision"
Baranes, M., und T. Fortin. „Planification et chirurgie guidée - Avis d’experts : Apports des nouvelles technologies en implantologie : de la planification à la réalisation de la prothèse provisoire immédiate“. In 66ème Congrès de la SFCO. Les Ulis, France: EDP Sciences, 2020. http://dx.doi.org/10.1051/sfco/20206601011.
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