{"title":"Reports of the Match 180 seconds from the French-speaking Days of Medical Biology","authors":"Marie-Hélène Tournoys, Amélie Bachelot, Bruno Baudin, Oulfa Boussetta-Charfi, Julie Catillon, Emma Chambery, Anne-Laure Demartin, Nesrine Ktari, Aurélie Truffot, Jules Weinhard, Sabine Zaepfel, Jérôme Grosjean, Carole Poupon","doi":"10.1684/abc.2022.1770","DOIUrl":"https://doi.org/10.1684/abc.2022.1770","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 6","pages":"579-586"},"PeriodicalIF":0.5,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10627234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Lower-back pain and weight loss in a 75-year-old man","authors":"Aurélie Sarthou, Céline Bouchet-Seraphin, Maria-Margarita Hurtado-Nedelec, Katell Peoc’h","doi":"10.1684/abc.2022.1768","DOIUrl":"https://doi.org/10.1684/abc.2022.1768","url":null,"abstract":"<p><p>A 75-year-old men is adressed in rheumatology for lower back pain, asthenia, and recent weight loss. Myeloma is suspected. Anemia, hyperproteinemia as well as a monoclonal IgG kappa with serum protein immunofixation are discovered. The diagnosis is confirmed by the myelogram with 14% of medullar plasmocytes. Osteolytic lesions are also found on the scanner.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 6","pages":"541-543"},"PeriodicalIF":0.5,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10583413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"POCT management of neonatal bilirubinemia – guidelines for an optimization of kernicterus monitoring","authors":"Michel Vaubourdolle, Agnès Mailloux","doi":"10.1684/abc.2022.1774","DOIUrl":"https://doi.org/10.1684/abc.2022.1774","url":null,"abstract":"<p><p>In pediatrics, accurate measurement of total serum bilirubin (TSB) is of major importance for reliable diagnosis and appropriate management of neonatal jaundice. However, several studies evidenced poor comparability of results obtained with the different available methods either in central lab or in POCT, on serum, capillary blood or transcutaneous. This situation is partly due to the lack of Reference Materials, especially for high bilirubin concentrations but also on poor communication between central lab and neonatology unit. To progress on these issues, we have compiled some data from CNRHP to propose guidelines for choice, use and management of POCT devices and to help clinical laboratories to achieve a better answer to clinical needs with specific local constraints. The results from several CNRHP studies are presented: traceability to International System of Units, inter-laboratories comparability, POCT vs central labs comparisons with POCT CO-oximeter or photometer, integration of transcutaneous bilirubinometer. We propose, based on an analysis of devices advantages and issues, guidelines to help labs either to improve neonates monitoring in their local context; we distinguished the choices inside laboratory for a better harmonization of results compared to published thresholds and outside lab contexts, to organize a coordinated chain with POCT devices, with capillary and/or transcutaneous approaches.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 6","pages":"509-519"},"PeriodicalIF":0.5,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10627235","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Maïssa Souissi, Antoine Morel-Cahoreau, Sylvie Daliphard, Agnès Lahary, Victor Bobée
{"title":"G6PD: a homozygous deficiency revealed by macrocytosis after acute alcoholism","authors":"Maïssa Souissi, Antoine Morel-Cahoreau, Sylvie Daliphard, Agnès Lahary, Victor Bobée","doi":"10.1684/abc.2022.1767","DOIUrl":"https://doi.org/10.1684/abc.2022.1767","url":null,"abstract":"<p><p>G6PD deficiency is one of the most common genetic disorders in the world, affecting more than 400 million people. The large majority of patients do not have anemia of chronic hemolysis but are subject to acute haemolytic anemia after exposure to triggering factor, usually eating fava beans, exposure to oxidative drugs or acidosis. We report the case of a 53-year-old woman that had an acute haemolytic anemia revealed by abnormally rapid increase of MCV that eventually led to discover G6PD deficiency. As investigation did not identify any common triggering factor, we discuss the involvement of the patient’s acute alcohol consumption in this haemolytic event.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 6","pages":"545-549"},"PeriodicalIF":0.5,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10621884","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jingnan Zhu, Fuping Shen, Sujie Zheng, Jiwei Zhao, Jinlin Liu
{"title":"Cup-like blasts from different lineage: two clinical cases","authors":"Jingnan Zhu, Fuping Shen, Sujie Zheng, Jiwei Zhao, Jinlin Liu","doi":"10.1684/abc.2022.1773","DOIUrl":"https://doi.org/10.1684/abc.2022.1773","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 6","pages":"573-574"},"PeriodicalIF":0.5,"publicationDate":"2022-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10583408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Self-portrait of a researcher belonging to UMR 1248 Inserm","authors":"Jean-Baptiste Woillard","doi":"10.1684/abc.2022.1756","DOIUrl":"https://doi.org/10.1684/abc.2022.1756","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 5","pages":"499-502"},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10767591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Professor Gérard Siest, the smiley IFCC President, always looking to the future","authors":"J. Siest, Bernard Gouget","doi":"10.1684/abc.2022.1760","DOIUrl":"https://doi.org/10.1684/abc.2022.1760","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 5 1","pages":"497-498"},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"67556084","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Improving interactivity in scientific conferences by the use of new concept of academic posters","authors":"Ludovic Firrera, Fanny Lemonnier, Manon Deschildt, Guillaume Grzych","doi":"10.1684/abc.2022.1754","DOIUrl":"https://doi.org/10.1684/abc.2022.1754","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 5","pages":"409-412"},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10767590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Pulmonary cryptococcosis in a non-immunosuppressed patient","authors":"Grégoire Pasquier, Emilie Guemas, Loïc Sobanska, Magalie Demar","doi":"10.1684/abc.2022.1748","DOIUrl":"https://doi.org/10.1684/abc.2022.1748","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 5","pages":"495-496"},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10704417","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Genetic of thoracic aorta aneurysm","authors":"Margaux Cadenet, Nadine Hanna, Pauline Arnaud","doi":"10.1684/abc.2022.1742","DOIUrl":"https://doi.org/10.1684/abc.2022.1742","url":null,"abstract":"<p><p>The thoracic aortic aneurysm corresponds to the dilation of the ascending part of the aorta, which can lead to a dissection (TAAD for Thoracic Aortic Aneurysm and Dissection) or aortic rupture. The etiologies are diverse, but in approximately 20% of cases a genetic origin is found. About thirty genes are reported to be responsible for the development of TAAD. The majority of these genes encode for proteins involved in the extracellular matrix, the contraction of smooth muscle cells or the growth factor TGF-β signaling pathway. Identifying the pathogenic variant responsible for the aortic disease becomes essential to make a definitive diagnosis, to guide and to personalize the treatment of the patients but also to screen relatives at risk. The availability and access to genetic testing have improved considerably with the development of new sequencing techniques (NGS for Next Generation Sequencing) and the use of gene panels. This review summarizes the main genes associated with TAAD as well as the current diagnostic strategy.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"80 4","pages":"344-354"},"PeriodicalIF":0.5,"publicationDate":"2022-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33464969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}