Revue francophone des laboratoires : RFL最新文献

{"title":"Létalité infantile et crise de la pédiatrie : quel impact sur les services pédiatriques ?","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76295-4","DOIUrl":"10.1016/S1773-035X(25)76295-4","url":null,"abstract":"<div><div>La sénatrice Marie-Pierre Richer a souhaité attirer l’attention de Geneviève Darrieusecq, ex-ministre de la Santé et de l’Accès aux soins, sur ce qu’elle considère comme une crise aiguë que traverse la pédiatrie en France et, par enchaînement, celle des services pédiatriques des établissements hospitaliers confrontés à la pénurie de soignants.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 10"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092488","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 : En Bretagne, des groupes de parole pour jeunes addicts","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76290-5","DOIUrl":"10.1016/S1773-035X(25)76290-5","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 7"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097437","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":"Le diagnostic préimplantatoire: pourquoi, pour qui, où et comment?","authors":"Anne Girardet ,&nbsp;Julien Bessonnat ,&nbsp;Gaëlle Melaye ,&nbsp;Charlotte Sonigo ,&nbsp;Julia Lauer Zillhardt ,&nbsp;Céline Moutou ,&nbsp;sous l’égide de la Société française de diagnostic préimplantatoire (SFDPI)","doi":"10.1016/S1773-035X(25)76276-0","DOIUrl":"10.1016/S1773-035X(25)76276-0","url":null,"abstract":"<div><h3>Résumé</h3><div>Disponible en France depuis la fin des années 1990, suite à la création des premières lois de bioéthique, le diagnostic préimplantatoire (DPI) peut être proposé à des patients à risque de transmettre à leur descendance des maladies génétiques particulièrement graves. Leur prise en charge est multidisciplinaire et associe la médecine et la biologie de la reproduction et la génétique. Le DPI consiste à analyser des cellules issues d’embryons obtenus par fécondation in vitro afin de ne transférer que des embryons indemnes de la pathologie recherchée. Après une description du contexte législatif français, nous aborderons le parcours des patients et les techniques d’analyse actuellement utilisées, donnerons quelques chiffres de l’activité nationale et ouvrirons des perspectives d’évol ution de cette pratique.</div></div><div><h3>Abstract</h3><div>Available in France since the late 1990s, since the advent of the first bioethics laws, preimplantation testing (PGT) can be offered to patients at risk of transmitting particularly serious genetic diseases to their offspring. Treatment is multidisciplinary, combining reproductive medicine and biology with genetics. PGD consists in analysing cells from embryos obtained by in vitro fertilization, in order to transfer only embryos free of the pathology of interest. After a description of the French legislative context, the patient pathway and the analysis techniques currently used will be described, some figures for national activity will be presented as well as open up prospects for the future development of this practice.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 34-43"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130978","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":"Idées reçues sur les familles monoparentales","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76269-3","DOIUrl":"10.1016/S1773-035X(25)76269-3","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Page 6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130813","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":"Cytogénétique: du caryotype au génome en pré- et postnatal","authors":"Aurélie Gouronc ,&nbsp;Sophie Scheidecker ,&nbsp;Caroline Schluth-Bolard","doi":"10.1016/S1773-035X(25)76274-7","DOIUrl":"10.1016/S1773-035X(25)76274-7","url":null,"abstract":"<div><h3>Résumé</h3><div>La cytogénétique humaine étudie la structure et la fonction des chromosomes et les corrélations entre les variations chromosomiques et le phénotype. Longtemps limitées au caryotype, les techniques d’étude des chromosomes se sont rapidement développées ces vingt dernières années. Après l’hybridation in situ en fluorescence, l’analyse chromosomique sur puce à ADN, le séquençage haut- débit <em>short-read</em> et <em>long-read</em> et la cartographie optique ont enrichi l’arsenal diagnostique du cytogénéticien. Il est à présent possible de détecter des variations chromosomiques de nombre et de structure, équilibrées ou déséquilibrées, d’une taille de plusieurs mégabases à seulement quelques dizaines de paires de bases. Ces techniques sont mises en œuvres en diagnostic prénatal, notamment en cas de signes d’appel échographiques, et en contexte postnatal dans des situations variées, allant des anomalies du développement aux troubles de la reproduction.</div></div><div><h3>Abstract</h3><div>Human cytogenetics studies structure and function of chromosomes and the correlation between their variations and patients’ phenotype. Limited to the karyotype for long years, the techniques used to analyze chromosomes have rapidly evolved these twenty last years. After fluorescence in situ hybridization, chromosomal microarray, “short-read” and “long-read” sequencing and optical genome mapping have extended diagnostic tools of cytogeneticist. It is now possible to detect chromosomal variations affecting number or structure, either balanced or unbalanced, with a size ranging from many megabases to only few dozen base pairs. These techniques are used in prenatal diagnosis, in particular in case of fetal malformations, and in postnatal context in various situations, including developmental disorders and reproductive issues.</div><div>Therefore, in order to correctly interpret these data, expertise is required.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 19-27"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130896","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":"Une morsure bêêêête","authors":"Coustalat Charlotte ,&nbsp;Ferraris Olivier ,&nbsp;Hantz Sébastien ,&nbsp;Dupont Marine","doi":"10.1016/S1773-035X(25)76282-6","DOIUrl":"10.1016/S1773-035X(25)76282-6","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 77-79"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130371","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 FDA approuve le premier vaccin nasal anti-grippe domestique","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76266-8","DOIUrl":"10.1016/S1773-035X(25)76266-8","url":null,"abstract":"<div><h3>Résumé</h3><div>La Food and Drug Administration (FDA) a donné son feu vert à l’administration par le nez aux Américains de tous âges d’un nouveau vaccin quadrivalent contre la grippe, le FluMist.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Page 5"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130729","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":"Résurgence de Bordetella pertussis: un isolat résistant aux macrolides en France en 2024","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76271-1","DOIUrl":"10.1016/S1773-035X(25)76271-1","url":null,"abstract":"<div><h3>Résumé</h3><div>Un travail collectif français impliquant notamment l’Institut Pasteur et l’agence sanitaire Santé publique France, paru sur le site Eurosurveillance du Centre européen de prévention et de contrôle des maladies (ECDC pour <em>European Centre for Disease Prevention and Control</em>), rapporte la résurgence actuelle de la coqueluche en France.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Page 8"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130814","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":"No more plastic Comment le plastique ruine notre santé","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76268-1","DOIUrl":"10.1016/S1773-035X(25)76268-1","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Page 6"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130887","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’amyotrophie spinale: du traitement au dépistage","authors":"Virginie Raclet ,&nbsp;Virginie Haushalter ,&nbsp;Marie-Pierre Reboul ,&nbsp;Valérie Biancalana ,&nbsp;Pascale Saugier-Veber ,&nbsp;Marie de Castelmur ,&nbsp;Carole Ramousset ,&nbsp;Amandine Vaidie ,&nbsp;Caroline Espil-Taris ,&nbsp;Yvan de Féraudy ,&nbsp;Sarah Romain ,&nbsp;Christian Cottet ,&nbsp;Vincent Laugel ,&nbsp;Didier Lacombe ,&nbsp;Nadège Calmels ,&nbsp;pour le consortium DEPISMA","doi":"10.1016/S1773-035X(25)76277-2","DOIUrl":"10.1016/S1773-035X(25)76277-2","url":null,"abstract":"<div><h3>Résumé</h3><div>L’amyotrophie spinale infantile (SMA pour <em>spinal muscular atrophy)</em> liée au gène <em>SMN1</em> est une maladie neuromusculaire d’origine génétique, de transmission autosomique récessive, touchant environ 120 nouveau-nés par an en France. Elle se décline en cinq types cliniques, le type le plus courant entraînant le décès de l’enfant avant l’âge de 18 mois en l’absence de traitement. Trois thérapies innovantes se sont révélées efficaces, particulièrement si elles sont administrées avant l’apparition des symptômes. Ainsi, plusieurs pays ont déjà instauré le dépistage néonatal (DNN) de la SMA. En France, le programme de DNN actuel concerne treize maladies et utilise des tests biochimiques. Le DNN de la SMA serait le premier à utiliser un test génétique en première intention. Le projet préfigurateur DEPISMA a pour objectif de démontrer la faisabilité de ce dépistage dans deux grandes régions françaises, les régions Grand-Est et Nouvelle-Aquitaine, en prévision d’un déploiement national. Au 10 septembre 2024, 117769 nouveau-nés ont été testés, soit un taux d’exhaustivité de 94 %. Onze patients atteints de SMA ont été dépistés, dont huit ont bénéficié d’une thérapie génique. Ces résultats, associés à l’avis favorable de la Haute Autorité de santé (HAS), devraient ouvrir la voie à la mise en œuvre d’un programme national de dépistage, prévu à partir de juin 2025.</div></div><div><h3>Abstract</h3><div><em>SMN1</em> gene-linked infantile spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder of genetic origin, affecting around 120 newborns a year in France. There are five clinical types, the most common leading to death before the age of 18 months if left untreated.Three innovative therapies have proved effective, particularly if administered before symptoms appear. Several countries have already introduced newborn screening (NBS) for SMA. In France, the current NBS program covers 13 diseases and uses biochemical tests.The SMA NBS would be the first to use a genetic test in first intention.The aim of the DEPISMA prefigurator project is to demonstrate the feasibility of this screening in two major French regions, Grand-Est and Nouvelle-Aquitaine, with a view to national deployment. As of September 10, 2024, 117,769 newborns have been tested, representing a completeness rate of 94 %. Eleven SMA patients have been identified, eight of whom were treated with gene therapy. These results, combined with the favorable opinion of the French National Authority for Health, should pave the way for the implementation of a national program, scheduled to start in June 2025.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 568","pages":"Pages 44-51"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143130983","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}