Titre : Syndrome de Li-Fraumeni

Syndrome de Li-Fraumeni : Questions médicales fréquentes

Termes MeSH sélectionnés :

Complement C5
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"inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Syndrome de Li-Fraumeni", "description": "Comment est diagnostiqué le syndrome de Li-Fraumeni ?\nQuels tests génétiques sont utilisés ?\nQuels critères cliniques sont utilisés pour le diagnostic ?\nLe diagnostic peut-il être posé à tout âge ?\nLes tests de dépistage sont-ils recommandés ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Complement+C5&page=5#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Syndrome de Li-Fraumeni", "description": "Quels sont les symptômes du syndrome de Li-Fraumeni ?\nLes symptômes apparaissent-ils à un âge précoce ?\nY a-t-il des signes spécifiques à surveiller ?\nLes symptômes sont-ils toujours liés à des cancers ?\nLes symptômes peuvent-ils varier d'une personne à l'autre ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Complement+C5&page=5#section-symptômes" 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"@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Syndrome de Li-Fraumeni", "description": "Quelles complications peuvent survenir avec ce syndrome ?\nLes complications sont-elles prévisibles ?\nComment gérer les complications psychologiques ?\nLes complications peuvent-elles affecter la qualité de vie ?\nY a-t-il des complications spécifiques aux traitements ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Complement+C5&page=5#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Syndrome de Li-Fraumeni", "description": "Quels sont les principaux facteurs de risque ?\nLe mode de vie influence-t-il le risque ?\nLes femmes sont-elles plus à risque ?\nL'âge joue-t-il un rôle dans le risque ?\nLes facteurs environnementaux sont-ils impliqués ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Complement+C5&page=5#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment est diagnostiqué le syndrome de Li-Fraumeni ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'historique familial et des tests génétiques pour identifier des mutations." } }, { "@type": "Question", "name": "Quels tests génétiques sont utilisés ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests ciblent principalement les gènes TP53 et d'autres gènes associés au cancer." } }, { "@type": "Question", "name": "Quels critères cliniques sont utilisés pour le diagnostic ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "Les critères incluent des antécédents familiaux de cancers précoces et multiples." } }, { "@type": "Question", "name": "Le diagnostic peut-il être posé à tout âge ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le diagnostic peut être établi à tout âge, souvent après l'apparition de cancers." } }, { "@type": "Question", "name": "Les tests de dépistage sont-ils recommandés ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un dépistage régulier est conseillé pour détecter précocement les cancers." } }, { "@type": "Question", "name": "Quels sont les symptômes du syndrome de Li-Fraumeni ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes varient selon le type de cancer, incluant des douleurs, des masses et des changements de poids." } }, { "@type": "Question", "name": "Les symptômes apparaissent-ils à un âge précoce ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les cancers associés apparaissent souvent chez les jeunes adultes ou même les enfants." } }, { "@type": "Question", "name": "Y a-t-il des signes spécifiques à surveiller ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Surveillez les douleurs persistantes, les changements cutanés et les anomalies mammaires." } }, { "@type": "Question", "name": "Les symptômes sont-ils toujours liés à des cancers ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Pas toujours, mais tout symptôme persistant doit être évalué par un professionnel." } }, { "@type": "Question", "name": "Les symptômes peuvent-ils varier d'une personne à l'autre ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, l'expression des symptômes peut varier en fonction des cancers développés." } }, { "@type": "Question", "name": "Comment prévenir le syndrome de Li-Fraumeni ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de prévention, mais un dépistage régulier peut aider à détecter les cancers tôt." } }, { "@type": "Question", "name": "Les personnes à risque doivent-elles se faire dépister ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les personnes à risque élevé doivent suivre un programme de dépistage régulier." } }, { "@type": "Question", "name": "Y a-t-il des recommandations pour les familles touchées ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Les familles doivent consulter des conseillers en génétique pour des recommandations personnalisées." } }, { "@type": "Question", "name": "Les habitudes de vie peuvent-elles influencer le risque ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Adopter un mode de vie sain peut réduire le risque de certains cancers, mais pas tous." } }, { "@type": "Question", "name": "Les tests génétiques sont-ils recommandés pour tous ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Non, ils sont recommandés principalement pour les personnes ayant des antécédents familiaux." } }, { "@type": "Question", "name": "Quels traitements sont disponibles pour ce syndrome ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements incluent la chirurgie, la chimiothérapie et la radiothérapie selon le cancer." } }, { "@type": "Question", "name": "La prévention des cancers est-elle possible ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Une surveillance régulière et des interventions précoces peuvent aider à prévenir certains cancers." } }, { "@type": "Question", "name": "Les traitements sont-ils différents selon le cancer ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Oui, chaque type de cancer peut nécessiter un traitement spécifique adapté." } }, { "@type": "Question", "name": "Y a-t-il des traitements expérimentaux disponibles ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Des essais cliniques peuvent offrir des options de traitement innovantes pour les patients." } }, { "@type": "Question", "name": "Le suivi post-traitement est-il important ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Oui, un suivi régulier est crucial pour détecter toute récidive ou nouveaux cancers." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec ce syndrome ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des cancers multiples, des effets secondaires des traitements et des problèmes psychologiques." } }, { "@type": "Question", "name": "Les complications sont-elles prévisibles ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Certaines complications peuvent être anticipées, mais d'autres peuvent survenir de manière inattendue." } }, { "@type": "Question", "name": "Comment gérer les complications psychologiques ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Un soutien psychologique et des groupes de soutien peuvent aider à gérer l'anxiété et la dépression." } }, { "@type": "Question", "name": "Les complications peuvent-elles affecter la qualité de vie ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les complications liées aux traitements et aux cancers peuvent altérer la qualité de vie." } }, { "@type": "Question", "name": "Y a-t-il des complications spécifiques aux traitements ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, les traitements peuvent entraîner des effets secondaires comme la fatigue, la nausée et l'immunosuppression." } }, { "@type": "Question", "name": "Quels sont les principaux facteurs de risque ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les antécédents familiaux de cancers et les mutations génétiques, notamment TP53, sont des facteurs clés." } }, { "@type": "Question", "name": "Le mode de vie influence-t-il le risque ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des facteurs comme le tabagisme et l'alimentation peuvent influencer le risque de cancer." } }, { "@type": "Question", "name": "Les femmes sont-elles plus à risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Non, le syndrome affecte également les hommes, bien que certains cancers soient plus fréquents chez les femmes." } }, { "@type": "Question", "name": "L'âge joue-t-il un rôle dans le risque ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, le risque de développer des cancers augmente avec l'âge, surtout après 30 ans." } }, { "@type": "Question", "name": "Les facteurs environnementaux sont-ils impliqués ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Des facteurs environnementaux peuvent contribuer au risque, mais le syndrome est principalement génétique." } } ] } ] }

Sources (1715 au total)

Efficacy and safety of baricitinib or ravulizumab in adult patients with severe COVID-19 (TACTIC-R): a randomised, parallel-arm, open-label, phase 4 trial.

From early in the COVID-19 pandemic, evidence suggested a role for cytokine dysregulation and complement activation in severe disease. In the TACTIC-R trial, we evaluated the efficacy and safety of ba... TACTIC-R was a phase 4, randomised, parallel-arm, open-label platform trial that was undertaken in the UK with urgent public health designation to assess the potential of repurposing immunosuppressant... Between May 8, 2020, and May 7, 2021, 417 participants were recruited and randomly assigned to standard of care alone (145 patients), baricitinib (137 patients), or ravulizumab (135 patients). Only 54... Neither baricitinib nor ravulizumab, as administered in this study, was effective in reducing disease severity in patients selected for severe COVID-19. Safety was similar between treatments and stand... UK Medical Research Council, UK National Institute for Health Research Cambridge Biomedical Research Centre, Eli Lilly and Company, Alexion Pharmaceuticals, and Addenbrooke's Charitable Trust....

Ravulizumab pharmacokinetics and pharmacodynamics in patients with generalized myasthenia gravis.

The terminal complement C5 inhibitor ravulizumab has a long elimination half-life, allowing maintenance dosing every 8 weeks. In the 26-week, double-blind, randomized, placebo-controlled period (RCP) ... Data were analyzed from 86 patients who received ravulizumab in the CHAMPION MG RCP. Ravulizumab dosing was weight-based: initial loading dose of 2400/2700/3000 mg on Day 1 and maintenance doses of 30... Target serum ravulizumab concentrations (> 175 µg/mL) were achieved immediately after the first ravulizumab dose (within 30 min of infusion completion) and maintained throughout the 26-week treatment ... PK/PD evidence supports the use of ravulizumab every 8 weeks for immediate, complete, and sustained inhibition of terminal complement C5 in adults with AChR Ab+ gMG.... ClinicalTrials.gov ID: NCT03920293 (April 18, 2019)....

Association between Loss of Immune Checkpoint Programmed Cell Death Protein 1 and Active ANCA-Associated Renal Vasculitis.

Immune checkpoint inhibitors (ICIs) have made an important contribution to the survival of patients with certain cancers. ICIs interrupt co-inhibitory signaling pathways mediated by programmed cell de...

C5 palsy following esophageal diverticulum resection.

C5 palsy (C5P) is a recognized potential postoperative complication of cervical spine surgery but has rarely been reported following an open esophageal diverticulectomy.... A 61-year-old underwent an open esophageal diverticulectomy for symptomatic Zencker's diverticulum.... Postoperatively, she presented with right upper extremity weakness and sensory deficits consistent with a C5P that was later confirmed by electromyography.... The potential for C5P after esophageal diverticulectomy for symptomatic Zencker's diverticulum is rare. Postoperative recognition and appropriate management are critical to recovery....

Pharmacological and clinical profile of ravulizumab 100 mg/mL formulation for paroxysmal nocturnal hemoglobinuria and atypical hemolytic uremic syndrome.

Paroxysmal nocturnal hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS) are two rare and severe conditions caused by chronic complement (C') system dysregulation. Treatment with eculiz... Main characteristics of ravulizumab are described: composition, dosing, efficacy and safety profile. Further, an overview of seminal studies and clinical trials using ravulizumab to treat PNH and aHUS... Ravulizumab profile to treat PNH and aHUS is equivalent to eculizumab in efficacy and safety but allows extended dosing interval to every 4-8 weeks based on patient weight, and requires reduced infusi...

Characterization for the Similarity Assessment between Proposed Biosimilar SB12 and Eculizumab Reference Product Using a State-of-the-Art Analytical Method.

SB12 is being developed as a proposed biosimilar to eculizumab reference product (RP), a humanized monoclonal antibody (IgG2/4 kappa immunoglobulin) that binds to the human C5 complement protein. Bind... The objective of this study was to demonstrate structural, physicochemical, and biological similarity between eculizumab RP and SB12 using various state-of-the-art analytical methods.... Comprehensive analytical characterization was conducted with side-by-side comparison of SB12 with European Union (EU) and United States (US) eculizumab RPs using various analytical methods (more than ... Based on the analytical similarity assessment, the structural, physicochemical, and biological characterization results demonstrated that SB12 is highly similar to the EU and US eculizumab RP. In the ... In summary, the overall analytical characterization and similarity assessment results show that SB12 is highly similar to the EU and US eculizumab RP in terms of structural, physicochemical, biophysic...