Revue francophone des laboratoires : RFL最新文献

{"title":"Hemophilie B acquise : à propos d'un cas","authors":"Samia Bazhar ,&nbsp;Khadija Essahli ,&nbsp;Marwa Elbakkali ,&nbsp;Anouar Akhssas ,&nbsp;Oumayma Elbouni ,&nbsp;Souhail Bibih ,&nbsp;Hafid Zahid","doi":"10.1016/S1773-035X(25)00023-1","DOIUrl":"10.1016/S1773-035X(25)00023-1","url":null,"abstract":"<div><h3><strong>Résumé</strong></h3><div>L'hémophilie B est un trouble héréditaire de la coagulation à transmission récessive lié au chromosome X. Les manifestations cliniques sont causées par des anomalies dans la production ou l'activité du facteur IX.</div><div>Il s'agit d'un patient âgé de 83 ans, admis aux urgences pour une prise en charge d'une douleur abdominale. L'interrogatoire a révélé un épisode de gastroentérite avec des douleurs abdominales datant d'une semaine et l'apparition de taches ecchymotiques spontanées des quatre membres. Devant cette symptomatologie, des explorations biologiques ont été entreprises. La recherche d'un anticorps anticoagulant circulant, type lupus anticoagulant, était négative et le dosage des facteurs montre un déficit isolé en facteur IX. La recherche d'anticorps spécifiques anti-IX était positive.</div><div>L'hémophilie acquise est une maladie de la coagulation liée à la présence d'auto-anticorps acquis dirigés contre les facteurs VIII ou IX de la coagulation, son diagnostic est confirmé par la recherche d'un inhibiteur anti-IX et son titrage par la méthode Bethesda. La prise en charge reste difficile, en raison de la rareté de cette pathologie et de la diversité d'expression et d'évolution des inhibiteurs.</div></div><div><h3><strong>Abstract</strong></h3><div>Hemophilia B is a hereditary sex-related coagulation disorder, clinical manifestations are caused by abnormalities in the production of factor IX.</div><div>This is an 83-year-old patient admitted to the emergency for management of abdominal pain. The interview revealed an episode of gastroenteritis with abdominal pain a week ago and the appearance of spontaneous bruising spots on all four limbs. Biological explorations were undertaken.</div><div>The screening for circulating anticoagulant antibodies of the type Lupus anticoagulant was negative and different factors were tested and shown an isolated factor IX deficiency. The anti-IX specific antibody test was positive.</div><div>Acquired hemophilia is a coagulation disease associated with the presence of acquired autoantibodies directed against coagulation factors VIII or IX. Diagnosis confirmed by anti-IX inhibitor screening and titration using the Bethesda method. Its management remains difficult, due to the rarity of this pathology and the diversity of expression and evolution of inhibitors.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 75-78"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704227","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":"Virus respiratoire syncytial : un premier vaccin à ARNm, après celui anti-Sars-CoV-2","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00002-4","DOIUrl":"10.1016/S1773-035X(25)00002-4","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 5"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704225","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":"Des idées d’articles ?","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00003-6","DOIUrl":"10.1016/S1773-035X(25)00003-6","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 5"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704226","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":"Corps, amour, sexualité : y’a pas d’âge pour se poser des questions !","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00007-3","DOIUrl":"10.1016/S1773-035X(25)00007-3","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":"143703991","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":"Hope for rare diseases : une fédération européenne pour répondre aux défis des maladies rares","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00015-2","DOIUrl":"10.1016/S1773-035X(25)00015-2","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 13"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704020","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":"Spectrométrie de masse et maladies métaboliques","authors":"Bruno Baudin","doi":"10.1016/S1773-035X(25)00019-X","DOIUrl":"10.1016/S1773-035X(25)00019-X","url":null,"abstract":"<div><h3><strong>Résumé</strong></h3><div>Les maladies métaboliques sont extrêmement nombreuses et variées ; elles peuvent toucher les métabolismes des sucres, des lipides et des protéines, surtout les voies de synthèse et de dégradation de leurs précurseurs : oses, acides gras et acides aminés, des petites molécules maintenant presque toutes accessibles à l'analyse par spectrométrie de masse ; pour certaines depuis très longtemps déjà, pour d'autres plus récemment, et la recherche reste active dans ce domaine. Les plus anciennes, la chromatographie des acides organiques urinaires et la chromatographie des acides aminés, sont en phase gazeuse, couplées à la spectrométrie de masse (GC-MS) pour la première et en phase liquide couplée à la spectrométrie de masse en tandem pour la deuxième (LC-MS/MS). Sont ensuite apparues des méthodes de spectrométrie de masse plus sensibles et plus spécifiques adaptées aux dosages des acyl-carnitines, des neurotransmetteurs, des acides gras, des acides biliaires, des stérols, des vitamines et des porphyrines. Beaucoup de maladies lysosomiques bénéficient maintenant d'un marqueur spécifique dosé par LC-MS/MS, surtout des oligosaccharides et des sphingolipides.</div></div><div><h3>Abstract</h3><div>Metabolic diseases are extremely numerous and varied; they can affect the metabolisms of sugars, lipids and proteins, especially the synthesis and degradation pathways of their precursors: bones, fatty acids and amino acids, small molecules now almost all accessible to analysis by mass spectrometry; for some of them for a very long time already, for others more recently, and research remains active in this field. The oldest, urinary organic acid chromatography and amino acid chromatography, are gas-phase chromatography coupled with mass spectrometry (GC-MS) for the former and liquid phase coupled with tandem mass spectrometry (LC-MS/MS). This led to the development of more sensitive and specific mass spectrometry methods for the determination of acylcarnitines, neurotransmitters, fatty acids, bile acids, sterols, vitamins and porphyrins. Many lysosomal diseases now benefit from a specific marker measured by LC-MS/ MS, especially oligosaccharides and sphingolipids.</div></div>","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Pages 47-56"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143704300","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 : Administrer des médicaments par pompe implantable","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)00010-3","DOIUrl":"10.1016/S1773-035X(25)00010-3","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 570","pages":"Page 9"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143703994","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)76303-0","DOIUrl":"10.1016/S1773-035X(25)76303-0","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Pages 64-65"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143097531","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":"Textes juridiques","authors":"","doi":"10.1016/S1773-035X(25)76293-0","DOIUrl":"10.1016/S1773-035X(25)76293-0","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 9"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092487","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 : Nouveautés en santé au JO","authors":"Jean-Marie Manus","doi":"10.1016/S1773-035X(25)76294-2","DOIUrl":"10.1016/S1773-035X(25)76294-2","url":null,"abstract":"","PeriodicalId":74728,"journal":{"name":"Revue francophone des laboratoires : RFL","volume":"2025 569","pages":"Page 9"},"PeriodicalIF":0.0,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143092489","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}