Revue francophone des laboratoires : RFL最新文献

{"title":"Réforme 2.0 du RIHN : menace sur l’innovation en biologie médicale ?","authors":"Valérie Bardet (Pr)","doi":"10.1016/S1773-035X(25)76284-X","DOIUrl":"10.1016/S1773-035X(25)76284-X","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 1"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092486","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 : Des idées d’articles ?","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76286-3","DOIUrl":"10.1016/S1773-035X(25)76286-3","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 5"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097440","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":"Place des marqueurs biochimiques du remodelage osseux dans le diagnostic et le suivi des métastases osseuses","authors":"Jean-Charles Rousseau ,&nbsp;Cyrille Confavreux","doi":"10.1016/S1773-035X(25)76302-9","DOIUrl":"10.1016/S1773-035X(25)76302-9","url":null,"abstract":"<div><h3>Résumé</h3><div>La prise en charge clinique des métastases osseuses (MO) constitue un enjeu majeur de santé publique. Environ 30 à 40 % des patients atteints de cancers avancés développent des MO au cours de leur maladie. Même si des concentrations élevées de marqueurs osseux tels que la BALP, la TRACP-5b, le NTX, le CTX et le PINP sont associées à la présence de MO, le chevauchement des valeurs entre les différents groupes limite leur utilité en tant qu’alternative fiable à l’imagerie pour une détection précoce. De même, des niveaux élevés de marqueurs du remodelage osseux sont corrélés à un pronostic défavorable quant à la survenue d’événements osseux. Cependant, ces marqueurs présentent, pour le pronostic, les mêmes limitations que celles observées pour le diagnostic. L’évolution des marqueurs osseux sous traitement semble être un indicateur pertinent de la réponse thérapeutique et de la survie. Leur diminution reflète une normalisation du remodelage osseux chez les patients cancéreux présentant des MO, évitant une hyperrésorption et contribuant ainsi à améliorer la survie globale. Enfin, les marqueurs osseux ont été utilisés pour comparer l’efficacité des antirésorbeurs et guider l’élaboration des schémas thérapeutiques, notamment en ce qui concerne la posologie et le rythme d’administration des traitements ciblant le tissu osseux, afin de limiter la toxicité cumulative pour le patient.</div></div><div><h3>Abstract</h3><div>The clinical management of bone metastases (BM) is a significant public health issue. Approximately 30 to 40% of patients with advanced cancers are estimated to develop BM during their illness. Although elevated levels of bone markers such as BALP, TRACP-5b, NTX, CTX, and PINP are associated with the presence of bone metastases, the overlap of values among different groups limits their reliability as an alternative to imaging for early detection. Similarly, high levels of remodeling markers are linked to a poor prognosis regarding the occurrence of skeletal related events. However, bone markers share the same limitations for prognosis as noted for diagnosis. The evolution of bone markers under treatment appears to be a good indicator of patient survival response. Their decrease reflects the normalization of bone remodeling in cancer patients with BM, preventing hyperresorption to improve overall survival. Finally, bone markers have been used to compare antiresorptive agents and guide the development of therapeutic regimens (dose, administration frequency) targeting bone to minimize cumulative toxicity for the patient.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Pages 53-63"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097530","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":"Nécrose médullaire en contexte oncologique","authors":"Jessica Cros-Labrit ,&nbsp;Anaëlle Sauquet ,&nbsp;Charly Roy ,&nbsp;Vulfran Cordelier ,&nbsp;Thomas Pinto Leite ,&nbsp;Pierre-Frédéric Augereau","doi":"10.1016/S1773-035X(25)76305-4","DOIUrl":"10.1016/S1773-035X(25)76305-4","url":null,"abstract":"<div><div>Bone marrow necrosis (BMN) is a phenomenon rarely encountered in biological haematology. However, it deserves to be known, as the examination of a necrotic bone marrow may erroneously point to an analytical problem (abnormal staining) or a non-contributory aspiration. Indeed, BMN is most often diagnosed incidentally, and remains associated with a poor prognosis, with a median survival of 41 days [<span><span>1</span></span>]. We report here the case of a 77-yearold patient hospitalized in an oncology department, in whom BMN was diagnosed during a myelogram performed in response to a rapid aggravation of bicytopenia (anemia and thrombocytopenia) at the diagnosis of a lung adenocarcinoma with the primary hypothesis of macrophagic activation syndrome.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Pages 75-80"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097532","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":"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}