Revue francophone des laboratoires : RFL最新文献

{"title":"Alopécie féminine post-chimiothérapie : quelle équité pour la prise en charge d'une perruque ?","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00012-7","DOIUrl":"10.1016/S1773-035X(25)00012-7","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 11"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703996","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":"Séquençage : du Sanger au séquençage haut débit et perspectives post-génomiques","authors":"Claire Caillot ,&nbsp;Lucas Gauthier ,&nbsp;Damien Sanlaville","doi":"10.1016/S1773-035X(25)00022-X","DOIUrl":"10.1016/S1773-035X(25)00022-X","url":null,"abstract":"<div><h3>Résumé</h3><div>Le séquençage de l'ADN, initialement réalisé par la technique de Sanger, a permis le développement de la génétique moléculaire permettant d'identifier des variations nucléotidiques sur des régions ciblées du génome, qu'il soit humain, bactérien ou autre. Ces dernières années se sont développées des techniques de séquençage massif en parallèle dites de séquençage haut débit permettant en un seul temps d'analyser l'ensemble d'un gène, un panel de gènes, l'ensemble des régions codantes et même le génome. Ces nouvelles techniques permettent d'accéder aux variants de la séquence du génome pour de nombreux patients en maîtrisant les coûts, rendant possible à grande échelle le diagnostic de maladie rare d'origine génétique et la caractérisation des tumeurs pour orienter la prise en charge thérapeutique. L'interprétation de la grande quantité de variants mis en évidence à l'échelle d'un génome nécessite le développement d'outils bioinformatiques et de bases de données. Les perspectives sont de coupler ces données à d'autres données omiques comme la transcriptomique, la protéomique mais aussi l'étude de marques de méthylation (épigénomique) afin de mieux comprendre les conséquences, ouvrant la voie à l'ère post-génomique.</div></div><div><h3>Abstract</h3><div>The sequencing of DNA, initially performed using the Sanger method, led to the development of molecular genetics, allowing the identification of nucleotide variations in targeted regions of the genome, whether human, bacterial, or otherwise. In recent years, parallel massive sequencing techniques, known as high-throughput sequencing, have been developed, enabling the analysis of an entire gene, a panel of genes, all coding regions (exome), or even the entire genome at once. These new techniques make it possible to access genome sequence variants for numerous patients while controlling costs, allowing large-scale diagnosis of rare genetic diseases and tumor characterization to guide therapeutic management. Interpreting the vast number of variants revealed at the genome level requires developing bioinformatics tools and databases. The future perspective is to couple these data with other omic data, such as transcriptomics, proteomics, and even the study of methylation marks (epigenomics), to better understand the consequences, paving the way for the post-genomic era.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 66-73"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704223","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":"La spectrométrie de masse à haute résolution : un outil pour le dépistage des nouveaux produits de synthèse","authors":"Romain Magny ,&nbsp;Arnaud Divol ,&nbsp;Carla Fournié ,&nbsp;Pauline Thiebot ,&nbsp;Pascal Houzé ,&nbsp;Laurence Labat","doi":"10.1016/S1773-035X(25)00020-6","DOIUrl":"10.1016/S1773-035X(25)00020-6","url":null,"abstract":"<div><h3>Résumé</h3><div>Les nouveaux produits de synthèse (NPS pour <em>New Psychoactive Substances)</em> désignent des molécules analogues de substances psychoactives connues qui visent à reproduire les effets des substances dont elles dérivent. Ces composés sont inclus dans des familles variées comme les cannabinoïdes de synthèse, les cathinones, les benzodiazépines, les arylcyclohexylamines et les opioïdes. Pour maintenir leur activité biologique, le pharmacophore doit être conservé, mais des modifications structurales sont régulièrement appliquées aux fonctions chimiques non impliquées dans l'activité, compliquant ainsi leur identification en laboratoire. Les NPS sont donc un problème de santé public croissant avec des défis cliniques et analytiques. En laboratoire d'analyse médicale, les méthodes de dépistage rapide, comme les tests immunochimiques, s'avèrent insuffisantes pour un diagnostic fiable. Des méthodes spécifiques par spectrométrie de masse à haute résolution sont généralement nécessaires mais nécessitent un retraitement de données conséquent. Néanmoins, le développement de stratégies analytiques adéquates, pouvant être basées sur les réseaux moléculaires, permet désormais de faciliter et de fiabiliser le diagnostic d'exposition à des molécules appartenant à la famille des NPS dans un contexte clinique ou médico-légal.</div></div><div><h3>Abstract</h3><div>New Psychoactive Substances (NPS) are analogues of known psychoactive compounds specifically designed to mimic the effects of their parent substances. These compounds span various families, including synthetic cannabinoids, cathinones, benzodiazepines, arylcyclohexylamines, and opioids. To preserve their biological activity, the core pharmacophore is maintained, yet modifications are frequently applied to other chemical groups, making identification in laboratory settings more challenging. NPS thus present a growing public health concern with complex clinical and analytical implications. In medical laboratories, rapid <em>screening</em> methods, such as immunoassays, are generally insufficient for reliable diagnostics. High-resolution mass spectrometry is often required for accurate detection, though it involves extensive data processing. However, the development of advanced analytical strategies, including molecular networking approaches, now enhances and streamlines the reliability of NPS exposure diagnostics in both clinical and forensic context.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 57-63"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704221","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":"Alerte mondiale : rougeole, le vaccin oublié !","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00014-0","DOIUrl":"10.1016/S1773-035X(25)00014-0","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 12"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703997","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":"Brève : Vous avez de l’arthrite ? Prenez un antidiabétique !","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00013-9","DOIUrl":"10.1016/S1773-035X(25)00013-9","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 11"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704228","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":"Un partenariat pour proposer un marqueur décisif de la polyarthrite rhumatoïde","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00004-8","DOIUrl":"10.1016/S1773-035X(25)00004-8","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 6"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704387","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":"QCM: Évaluez-vous !","authors":"","doi":"10.1016/S1773-035X(25)00021-8","DOIUrl":"10.1016/S1773-035X(25)00021-8","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 64-65"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704222","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":"La spectrométrie de masse au service de la santé en 2025","authors":"Marie-Claude Menet","doi":"10.1016/S1773-035X(25)00017-6","DOIUrl":"10.1016/S1773-035X(25)00017-6","url":null,"abstract":"<div><h3>Résumé</h3><div>Depuis le début des années 2010, les innovations technologiques en spectrométrie de masse ont été importées avec succès dans les laboratoires de biologie médicale, au plus près du patient. Le développement de sources d'ionisation particulières simplifie l'étape de traitement de l'échantillon souvent longue et fastidieuse et va jusqu'à révolutionner la prise en charge des malades par la possibilité d'une analyse peropératoire des tissus. Le triple quadripole, analyseur très fréquemment utilisé depuis l'introduction de la spectrométrie de masse en laboratoire de biologie médicale permet essentiellement une étude quantitative des échantillons. L'utilisation en pleine croissance des analyseurs de haute résolution, le TOF et l'Orbitrap®, en particulier quand ils sont placés en aval d'un quadripole pour former un système tandem, favorise des modes d'acquisition de données (SIM, PRM, DDA et DIA) permettant simultanément une analyse quantitative mais également qualitative d'identification grâce à une bibliothèque de spectres. L'analyseur haute résolution allié à une bibliothèque a montré également son intérêt dans l'identification bactérienne ultra rapide par MALDI-TOF. La partie en amont du spectromètre de masse - extraction de l'échantillon et chromatographie - est également concernée par ces nouveautés avec une mise en place de flux opérationnel analytique en grande partie automatisé, ce qui facilite le couplage de toutes ces méthodes entre elles et leur intégration dans le système qualité des laboratoires.</div></div><div><h3>Abstract</h3><div>Since the beginning of the 2010s, technological innovations in mass spectrometry have been successfully imported into medical biology laboratories, as close as possible to the patient. The development of specific ionization sources simplifies the often long and tedious sample processing stage and goes so far as to revolutionize patient care through the possibility of per operative tissue analysis. The triple quadrupole, an analyzer very frequently used since the introduction of mass spectrometry in the biological laboratories, essentially allows a quantitative study of samples.The growing use of high-resolution analyzers, the TOF and the Orbitrap®, particularly when they are placed downstream of a quadrupole to form a tandem system, favors data acquisition modes (SIM, PRM, DDA and DIA) simultaneously allowing quantitative analysis but also qualitative identification thanks to a library of spectra. The high-resolution analyzer combined with a library has also shown its interest in ultra-rapid bacterial identification by MALDI-TOF.The upstream part of the mass spectrometer, sample extraction and chromatography, is also affected by these new features with the implementation of a largely automated analytical operational flow, which facilitates the coupling of all these methods together and their integration into the laboratory quality system.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 16-33"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704298","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":"Médicaments-Édition 2024-2025 L'enseignement en fiches","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00008-5","DOIUrl":"10.1016/S1773-035X(25)00008-5","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 8"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703992","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":"Conflits médico-civils : quid des violences commises par un professionnel de santé ?","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00011-5","DOIUrl":"10.1016/S1773-035X(25)00011-5","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 10"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703995","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}