Titre : Syndrome de Li-Fraumeni

Syndrome de Li-Fraumeni : Questions médicales fréquentes

Termes MeSH sélectionnés :

Databases, Factual
{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Syndrome de Li-Fraumeni : Questions médicales les plus fréquentes", "headline": "Syndrome de Li-Fraumeni : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Syndrome de Li-Fraumeni : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-01-23", "dateModified": "2025-04-17", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Syndrome de Li-Fraumeni" }, "suggestedMinAge": 18, "suggestedGender": "unisex" }, { "@type": "MedicalAudience", "name": "Médecins", "audienceType": "Physician", "geographicArea": { "@type": "AdministrativeArea", "name": "France" } }, { "@type": "MedicalAudience", "name": "Chercheurs", "audienceType": "Researcher", "geographicArea": { "@type": "AdministrativeArea", "name": "International" } } ], "reviewedBy": { "@type": "Person", "name": "Dr Olivier Menir", "jobTitle": "Expert en Médecine", "description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale", "url": "/static/pages/docteur-olivier-menir.html", "alumniOf": { "@type": "EducationalOrganization", "name": "Université Paris Descartes" } }, "isPartOf": { "@type": "MedicalWebPage", "name": "Troubles dus à un défaut de réparation de l'ADN", "url": "https://questionsmedicales.fr/mesh/D049914", "about": { "@type": "MedicalCondition", "name": "Troubles dus à un défaut de réparation de l'ADN", "code": { "@type": "MedicalCode", "code": "D049914", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "C18.452.284" } } }, "about": { "@type": "MedicalCondition", "name": "Syndrome de Li-Fraumeni", "alternateName": "Li-Fraumeni Syndrome", "code": { "@type": "MedicalCode", "code": "D016864", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "Payal P Khincha", "url": "https://questionsmedicales.fr/author/Payal%20P%20Khincha", "affiliation": { "@type": "Organization", "name": "Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland." } }, { "@type": "Person", "name": "David Malkin", "url": "https://questionsmedicales.fr/author/David%20Malkin", "affiliation": { "@type": "Organization", "name": "Division of Hematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, and Department of Pediatrics, University of Toronto, Toronto, Ontario." } }, { "@type": "Person", "name": "Sharon A Savage", "url": "https://questionsmedicales.fr/author/Sharon%20A%20Savage", "affiliation": { "@type": "Organization", "name": "Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland." } }, { "@type": "Person", "name": "Allison Werner-Lin", "url": "https://questionsmedicales.fr/author/Allison%20Werner-Lin", "affiliation": { "@type": "Organization", "name": "School of Social Policy and Practice, University of Pennsylvania, Philadelphia, PA." } }, { "@type": "Person", "name": "Maria Isabel Achatz", "url": "https://questionsmedicales.fr/author/Maria%20Isabel%20Achatz", "affiliation": { "@type": "Organization", "name": "Centro de Oncologia, Hospital Sirio-Libanes, Rua Dona Adma Jafet, 115 - Bela Vista, São Paulo, Brazil." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Analysis of a national difficult airway database.", "datePublished": "2022-08-07", "url": "https://questionsmedicales.fr/article/35933725", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1111/anae.15820" } }, { "@type": "ScholarlyArticle", "name": "Completeness and validity of the Danish fracture database.", "datePublished": "2023-05-02", "url": "https://questionsmedicales.fr/article/37179202", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.injury.2023.05.001" } }, { "@type": "ScholarlyArticle", "name": "Querying semantic catalogues of biomedical databases.", "datePublished": "2022-12-20", "url": "https://questionsmedicales.fr/article/36563828", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.jbi.2022.104272" } }, { "@type": "ScholarlyArticle", "name": "State and Government Administrative Databases: Medicare, National Inpatient Sample (NIS), and State Inpatient Databases (SID) Programs.", "datePublished": "2022-10-19", "url": "https://questionsmedicales.fr/article/36260036", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.2106/JBJS.22.00620" } }, { "@type": "ScholarlyArticle", "name": "Factual corrections: Concerns and current evidence.", "datePublished": "2023-10-21", "url": "https://questionsmedicales.fr/article/37988954", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.copsyc.2023.101715" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "Maladies métaboliques et nutritionnelles", "item": "https://questionsmedicales.fr/mesh/D009750" }, { "@type": "ListItem", "position": 3, "name": "Maladies métaboliques", "item": "https://questionsmedicales.fr/mesh/D008659" }, { "@type": "ListItem", "position": 4, "name": "Troubles dus à un défaut de réparation de l'ADN", "item": "https://questionsmedicales.fr/mesh/D049914" }, { "@type": "ListItem", "position": 5, "name": "Syndrome de Li-Fraumeni", "item": "https://questionsmedicales.fr/mesh/D016864" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Syndrome de Li-Fraumeni - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Syndrome de Li-Fraumeni", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-17", "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=Databases,+Factual&page=3#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=Databases,+Factual&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Syndrome de Li-Fraumeni", "description": "Comment prévenir le syndrome de Li-Fraumeni ?\nLes personnes à risque doivent-elles se faire dépister ?\nY a-t-il des recommandations pour les familles touchées ?\nLes habitudes de vie peuvent-elles influencer le risque ?\nLes tests génétiques sont-ils recommandés pour tous ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Databases,+Factual&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Syndrome de Li-Fraumeni", "description": "Quels traitements sont disponibles pour ce syndrome ?\nLa prévention des cancers est-elle possible ?\nLes traitements sont-ils différents selon le cancer ?\nY a-t-il des traitements expérimentaux disponibles ?\nLe suivi post-traitement est-il important ?", "url": "https://questionsmedicales.fr/mesh/D016864?mesh_terms=Databases,+Factual&page=3#section-traitements" }, { "@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=Databases,+Factual&page=3#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=Databases,+Factual&page=3#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 (10000 au total)

Completeness and validity of the Danish fracture database.

To calculate completeness of the Danish Fracture Database (DFDB) overall and stratified by hospital volume and to calculate the validity of independently assessed variables in the DFDB.... In this completeness and validation study, cases registered in the DFDB with fracture-related surgery in 2016 were retrospectively reviewed. All cases had undergone fracture-related surgery at a Danis... OVERALL COMPLETENESS WAS 55.4% (95% CI: : 54.7-56.0). For small-volume hospitals it was 60% (95% CI: 58.9-61.1), and for large-volume hospitals, it was 52.9% (95% CI: 52.0-53.7). The PPV for variables... We found low completeness of data reported to the DFDB in 2016; however, in the same period, the validity of data in the DFDB was high....

Querying semantic catalogues of biomedical databases.

Secondary use of health data is a valuable source of knowledge that boosts observational studies, leading to important discoveries in the medical and biomedical sciences. The fundamental guiding princ... We propose a strategy for retrieving biomedical datasets of interest that were semantically annotated, using an interface built by applying a methodology for transforming natural language questions in... Our methodology was validated using Alzheimer's disease datasets published in a European platform for sharing and reusing biomedical data. We converted data to semantic information format using biomed... We propose a strategy for using information extracted from biomedical data and transformed into a semantic format using open biomedical ontologies. Our method uses natural language to formulate questi...

Taipei Medical University Clinical Research Database: a collaborative hospital EHR database aligned with international common data standards.

The objective of this paper is to provide a comprehensive overview of the development and features of the Taipei Medical University Clinical Research Database (TMUCRD), a repository of real-world data... TMUCRD was developed by integrating EHRs from three affiliated hospitals, including Taipei Medical University Hospital, Wan-Fang Hospital and Shuang-Ho Hospital. The data cover over 15 years and inclu... TMUCRD comprises 89 tables (eg, 29 tables for each hospital and 2 linked tables), including demographics, diagnoses, medications, procedures and measurements, among others. It encompasses data from mo... TMUCRD stands out due to its unique advantages, including diverse data types, comprehensive patient information, linked mortality and cancer registry data, regular updates and a swift application proc... TMUCRD serves as a valuable resource for researchers and scholars interested in leveraging RWD for clinical research. Its availability and integration of diverse healthcare data contribute to a collab...

Topology-Based and Conformation-Based Decoys Database: An Unbiased Online Database for Training and Benchmarking Machine-Learning Scoring Functions.

Machine-learning-based scoring functions (MLSFs) have gained attention for their potential to improve accuracy in binding affinity prediction and structure-based virtual screening (SBVS) compared to c...

Usage of a graph database for the selection of sterile items in the OR.

In this work, we present a subsystem of a robotic circulating nurse, that produces recommendations for the next supplied sterile item based on incomplete requests from the sterile OR staff, the curren... For the implementation, the graph database Neo4j is used as a core component together with its querying language Cypher. We outline a specific structure of nodes and relationships, i.e., a graph. Prim... The graph database was populated with existing data from 854 surgeries describing the intraoperative use of sterile items. A test scenario is evaluated in which a request for "Prolene" is made during ... We have proposed a graph database for the selection of sterile items in the operating room. The example shows how the partial information from different sources can be easily integrated in a query, le...

Neuro-ophthalmology malpractice: A review of the Westlaw Database.

Neuro-ophthalmologic conditions are at a higher risk of misdiagnosis compared to other ophthalmic conditions. Increased awareness of the most common diagnostic errors in neuro-ophthalmology that lead ... Malpractice trials in the Westlaw Legal Database that involved cases of neuro-ophthalmologic diagnostic errors or failures by ophthalmologists were included in this study.... A total of 43 cases were included, all citing failure to diagnose as the main reason for litigation. The most common diagnoses missed were cerebrovascular pathologies (30.2%), intracranial tumours (27... Nearly half of the cases resulted in a defendant verdict. Settlement and plaintiff verdicts were costly, with average awards of approximately two million inflation-adjusted dollars. Failure to diagnos...