{"title":"Chikungunya : avis de sécurité aux professionnels de santé","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(26)76738-1","DOIUrl":"10.1016/S1773-035X(26)76738-1","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2026 585","pages":"Page 9"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"L’option ensitrelvir: dans la prévention post-exposition au Sars-CoV-2","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(26)76740-X","DOIUrl":"10.1016/S1773-035X(26)76740-X","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2026 585","pages":"Page 11"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096886","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Apport de la génétique dans le diagnostic et la prise en charge des pathologies plaquettaires constitutionnelles","authors":"Manal Ibrahim-Kosta","doi":"10.1016/S1773-035X(26)76751-4","DOIUrl":"10.1016/S1773-035X(26)76751-4","url":null,"abstract":"<div><h3>Résumé</h3><div>Les pathologies plaquettaires constitutionnelles (PPC) sont des maladies génétiques affectant le nombre de plaquettes, leur fonction ou les deux. Leur diagnostic est souvent difficile car les manifestations cliniques et les tests fonctionnels manquent de spécificité, sauf dans certaines formes caractéristiques comme la thrombasthénie de Glanzmann ou le syndrome de Bernard-Soulier. Le diagnostic génétique est devenu essentiel. Il permet de confirmer l’étiologie, d’éviter des traitements inadaptés, d’adapter le suivi et d’évaluer le pronostic. Certaines thrombopénies héréditaires, notamment liées aux gènes <em>RUNX1</em>, <em>ETV6</em> ou <em>ANKRD26</em>, exposent à un risque accru d’hémopathies malignes, tandis que d’autres présentent une évolution plus bénigne. L’identification du variant causal améliore également les corrélations génotype-phénotype et le conseil génétique, notamment pour le diagnostic prénatal. Le séquençage de nouvelle génération (SNG) a profondément modifié la prise en charge diagnostique des PPC en permettant l’analyse simultanée de nombreux gènes. Les panels ciblés constituent l’approche de première intention, tandis que l’exome ou le génome complet sont réservés aux situations plus complexes. L’interprétation des variants nécessite une expertise spécialisée ; les variants de signification incertaine ne doivent pas être utilisés seuls pour la prise en charge clinique. Enfin, le SNG soulève des questions éthiques liées à la découverte de prédispositions à certaines maladies ou de résultats fortuits. Un consentement éclairé est indispensable. Ainsi, la prescription, la réalisation et l’interprétation du SNG doivent être effectuées dans des centres experts.</div></div><div><h3>Abstract</h3><div>Inherited platelet disorders (IPDs) are genetic diseases affecting platelet count, platelet function, or both. Their diagnosis is often challenging because clinical features and platelet function tests are frequently nonspecific, except in characteristic conditions such as Glanzmann thrombasthenia and Bernard-Soulier syndrome. Genetic diagnosis has become central to patient management. It confirms the underlying cause, avoids inappropriate treatments, guides follow-up, and provides prognostic information. Some inherited thrombocytopenias, particularly those associated with <em>RUNX1</em>, <em>ETV6</em>, or <em>ANKRD26</em> variants, carry an increased risk of hematologic malignancies, whereas others have a more benign course. Identification of the causal variant also improves genotype–phenotype correlations and supports genetic counseling, including prenatal diagnosis. Next-generation sequencing (NGS) has transformed the diagnostic approach by enabling the simultaneous analysis of multiple genes. Targeted gene panels are recommended as the first-line strategy, while whole-exome or whole-genome sequencing is mainly reserved for complex cases. Variant interpretation requires specialized expertise, and variants of ","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2026 585","pages":"Pages 51-54"},"PeriodicalIF":0.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149096871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}