Annales de biologie clinique最新文献

{"title":"Clinical values of MRSI, CRP and FABP4 in the diagnosis and prognosis of acute pancreatitis.","authors":"Xi Wu, Ziqiang Guo, Ming Yu, Yunge Wu","doi":"10.1684/abc.2024.1909","DOIUrl":"10.1684/abc.2024.1909","url":null,"abstract":"<p><p>To examine the clinical values of C-reactive protein (CRP), fatty acid-binding protein 4 (FABP4) and magnetic resonance severity index (MRSI) in acute pancreatitis (AP) cases. 70 AP patients and another 70 healthy controls were recruited, and the MRSI score was calculated. Receiver operator characteristic (ROC) curve was used for diagnostic performance analysis. FABP4 levels were elevated in AP patients, and significantly correlated with CRP and MRSI score. Serum FABP4 and MRSI score displayed high diagnostic performance for AP. FABP4, MRSI score and CRP levels were positively correlated with disease severity. MRSI score and FABP4 were independently related to patients' survival, and showed high predictive values. FABP4 may serve as a potential marker for the diagnosis of AP, with the advantages of low cost and high simplicity. The levels of FABP4 and MRSI score can predict the poor survival of the patients.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 4","pages":"413-422"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142115848","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":"Identification of susceptibility modules and characteristic genes to osteoarthritis by WGCNA.","authors":"He-Jun Hu, Chao Kuang, Ru-Lin Deng, Zhi-Jun Zheng, Kang-Yan Liu, Xing-Xing Wei","doi":"10.1684/abc.2024.1913","DOIUrl":"10.1684/abc.2024.1913","url":null,"abstract":"<p><p>The susceptibility modules and characteristic genes of patients with osteoarthritis (OA) were determined by weighted gene co-expression network analysis (WGCNA), and the role of immune cells in OA related microenvironment was analyzed. GSE98918 and GSE117999 data sets are from GEO database. R language was used to conduct difference analysis for the new data set after merging. The formation of gene co-expression network, screening of susceptibility modules and screening of core genes are all through WGCNA. GO and KEGG enrichment analyses were used for Hub genes. The characteristic genes of the disease were obtained by Lasso regression screening. SSGSEA was used to estimate immune cell abundance in sample and a series of correlation analyses were performed. WGCNA was used to form 6 gene co-expression modules. The yellow-green module is identified as the susceptible module of OA. 202 genes were identified as core genes. Finally, RHOT2, FNBP4 and NARF were identified as the characteristic genes of OA. The results showed that the characteristic genes of OA were positively correlated with plasmacytoid dendritic cells, NKT cells and immature dendritic cells, but negatively correlated with active B cells. MDSC were the most abundant immune cells in cartilage. This study identified the Hippo signaling pathway, mTOR signaling pathway, and three characteristic genes (RHOT2, FNBP4, NARF) as being associated with osteoarthritis (OA). These three genes are downregulated in the cartilage of OA patients and may serve as biomarkers for early diagnosis and targeted therapy. Proper regulation of immune cells may aid in the treatment of OA. Future research should focus on developing tools to detect these genes and exploring their therapeutic applications.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 4","pages":"423-437"},"PeriodicalIF":0.0,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142303181","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":"[Acquired hemophilia A and emicizumab for the treatment of bleeding: two case report and a literature review].","authors":"Amélie Launois, Isabelle Martin-Toutain, Floriane Devaux, Juliette Lambert, Thomas Longval, Fatiha Merabet, Rym Jaidi, Sophie Le Dore, Emmanuelle Ferre, Philippe Rousselot, Emmanuelle De Raucourt, Claire Flaujac","doi":"10.1684/abc.2024.1900","DOIUrl":"10.1684/abc.2024.1900","url":null,"abstract":"<p><p>Emicizumab is a bispecific antibody that mimics the function of factor VIII (FVIII) and is indicated for prophylactic use in patients with congenital hemophilia A with or without inhibitors. Acquired hemophilia A (AHA) is a rare and severe disorder causes by autoantibodies that inhibit FVIII. In AHA, acute bleeding are managed with bypassing agents but several reports described the off-label use of emicizumab. The aim of this article is to describe two cases of AHA treated with emicizumab and a review of the scientific littérature. Reports indicate that the use of emicizumab is efficacious to treat acute bleeding with less thrombotic events thant with bypassing agents and with a reduced hospitalisation duration. Nevertheless biological monitoring is more complicated with assay interferences and a persistent circulation more than 6 months after the last injection was observed for our two patients.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"294-307"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989719","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":"[Feedback on the detection of SARS-CoV-2 by the point-of-care testing].","authors":"Jean-Claude Nguyen Van, Amir Khaterchi","doi":"10.1684/abc.2024.1891","DOIUrl":"10.1684/abc.2024.1891","url":null,"abstract":"<p><p>In order to improve the detection and rapid diagnosis of the SARS-CoV-2 coronavirus, we evaluated the ID NOW™ COVID-19 isothermal gene amplification technique in parallel with the real-time PCR technique (Diasorin) routinely used in the laboratory during a prospective study in the 2020 season. As this technique showed satisfactory sensitivity and specificity of 98% and 97.5% respectively, we then proposed to implement the detection of SARS-CoV-2 coronavirus in the emergency department and maternity as a point-of-care test (POCT) for the 2020-2021 season and to evaluate its clinical and organizational impact. This article summarizes the results obtained and highlights the advantages and limitations of this strategy implemented in the emergency department, particularly in terms of time spent in the department, hospitalization rates, anticoagulant treatment and early isolation of patients, as well as the organizational impact on the maternity unit. Based on this experience, we report on the regulatory constraints that apply when setting up a POCT and the steps required to validate the accreditation in accordance with standard NF EN ISO 22870.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"281-293"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141319204","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":"[Acute myeloid leukemia with mutated RUNX1 at the university hospitals of Strasbourg].","authors":"Baptiste Panaget, Laurent Mauvieux, Laurent Miguet, Luc-Mathieu Fornecker, Bruno Lioure, Marie-Pierre Ledoux, Delphine Rolland, Caroline Mayeur-Rousse","doi":"10.1684/abc.2024.1899","DOIUrl":"10.1684/abc.2024.1899","url":null,"abstract":"<p><p>RUNX1 is essential during human hematopoiesis. Numerous RUNX1 deregulations have been described, including translocations and germline or somatic mutations. Recurrent de novo RUNX1 mutations in acute myeloid leukemias (AML) prompted the creation of a provisional entity of AML with mutated RUNX1 in the 2016 WHO. In addition, recent genomic studies underlined rare AML patients with plasmacytoid dendritic cell (pDC) expansion and high RUNX1 mutations frequency. To better characterized AML with RUNX1 mutations, we retrospectively investigated a cohort of 32 patients diagnosed at Strasbourg University Hospital. Detailed clinical and biological features were aggregated. The presence of a pDC contingent was assessed by cytology and flow cytometry. In our cohort, no common features were identified either in term of cytology, stage of leukemia arrest or mutational features. Based on our observations, mutated RUNX1 AMLs do not appear to be a distinct AML entity. The new 2022 WHO classification includes AML with mutated RUNX1 within AML myelodysplasia-related category. We also identified within our cohort a patient whose AML fulfilled AML-pDC criteria, a rare and newly included entity in the last WHO classification.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"266-280"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142115838","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":"A case of t-cell lymphoblastic lymphoma characterized by pleural effusion combined with pericardial effusion.","authors":"Jiaqing Hu Mengmeng Wang, Jinlong Song","doi":"10.1684/abc.2024.1897","DOIUrl":"10.1684/abc.2024.1897","url":null,"abstract":"<p><p>This case underscores the pivotal role of early cytological examination of bodily fluids in the preliminary detection of lymphoma, a conclusion reinforced by subsequent pathological findings and refined through immunohistochemical characterization. A morphological analysis of pleural effusion cells was conducted in a 25-year-old male presenting initially with concurrent pleural and pericardial effusions. Initial morphological assessment of effusion specimens indicated the likelihood of a lymphoproliferative disorder. Subsequent detailed pathological and immunohistochemical investigations confirmed this suspicion, culminating in a definitive diagnosis of T-cell lymphoblastic lymphoma (T-LBL). The case emphasizes the necessity of employing a comprehensive and synergistic diagnostic approach, facilitating prompt and accurate diagnosis and subtyping of lymphoma.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"351-355"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989723","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":"[An expanding spleen].","authors":"Anastasia Milojkovic, Anne-Margaux Dejean, Marianne Tarnat, Marie-Liesse Etienne, Sarah Bugier","doi":"10.1684/abc.2024.1889","DOIUrl":"10.1684/abc.2024.1889","url":null,"abstract":"<p><p>A 24 years-old woman was admitted to hospital for an epistaxis that had not resolved. Biological results show bi-cytopenias (anemia and thrombopenia). Clinically she presents a fourth grade splenomegaly. To explore these cytopenias, a myelogram is performed.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"329-332"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900658","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":"Analytical interference in CA 19-9 immunoassay generates false-positive results in a young woman with a low-grade appendiceal tumor: An educational case report and brief literature review.","authors":"Jérôme A Denis, Mathieu Boissan, Eric Rouzaud, Jean-Marc Lacorte, Marc Pocard, Laurent Genser","doi":"10.1684/abc.2024.1892","DOIUrl":"10.1684/abc.2024.1892","url":null,"abstract":"<p><p>CA 19-9 (carbohydrate antigen 19-9) is a tumor marker widely used for the follow-up of patients with pancreatic cancer and other digestive neoplasia. This case report describes a discrepancy between the results of serum CA 19-9 analyses using the Alinity analytical platform (Abbott™) and two other techniques, Kryptor Gold (ThermoFisher Scientific™) and Cobas E411 (Roche™), in the context of a young woman with appendiceal mucocele. In this context, when the serum concentration of CA 19-9 is high, it may raise concerns about potential malignancy or rupture of the mucocele that may lead to tumoral dissemination in the abdominal cavity. In the present case, we observed with Alinity a false elevation in CA 19-9 concentration at 190 kU/L (normal range < 37 kU/L) before appendix resection that continued to increase until reaching 619 kU/L six months after surgery. This situation led to unnecessary additional tests, increased hospitalization time and stress for the patient who also had to interrupt her medically assisted reproduction project. We solved this case using new measurements in CA 19-9 concentration with two other techniques, Kryptor Gold and Cobas E411, and we identified an analytical interference caused by the presence of heterophile antibodies. In all cases, abnormal result initially obtained with Alinity was found below normal range not only with the two other techniques but also with Alinity after a neutralisation step by using Heterophile Blocking Tubes (Scantibodies Laboratory™). Analytical interferences in medical tests can lead to inappropriate medical care. It is an important issue requiring a continuing training of biologists who must be aware of these problems, which are recurring concerns and are not always easy to identify in laboratories of medical biology, in particular when immunoassays are used. This case report also provides an opportunity to do a brief review of the literature and to remind some recommendations and actions to take into consideration in the presence of discrepancies between the clinic and the biology, in particular, one of them is to measure the biological analyte with a different technique. Moreover, the use of Heterophile Blocking Tubes neutralizing specifically the heterophile antibodies may be useful. In all cases, dialogue between clinicians and biologists remains essential.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"321-328"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903907","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":"[Validation of a method for measuring the antielastolytic activity of human circulating alpha1-antitrypsin].","authors":"Magali Dechomet, Farid Zerimech, Colette Chapuis-Cellier, Christine Lombard, Malika Balduyck","doi":"10.1684/abc.2024.1893","DOIUrl":"10.1684/abc.2024.1893","url":null,"abstract":"<p><p>The existence of alpha-1 antitrypsin variants with apparently unremarkable phenotypes and serum concentrations, contrasting with a clinical picture suggestive of a severe deficiency, led us to investigate whether in these cases there was a reduction or even suppression of the capacity of alpha-1 antitrypsin to inhibit elastase. To this end, in two different laboratories, we adapted and validated a method for measuring the functional activity of alpha-1 antitrypsin, based on spectrophotometric kinetic analysis of the inhibition by serum alpha-1 antitrypsin of the hydrolytic activity of porcine pancreatic elastase on a chromogenic substrate. This method has proved to be robust, reproducible and transferable and made possible to define, on the basis of an analysis of a hospital population, a functionality index with a confidence interval comprised between 0.87 and 1.2, allowing to identify subjects likely to have a functional deficiency of alpha-1 antitrypsin, whether this deficiency being of a genetic origin without any quantitative or phenotypic translation, or whether being acquired under the effect of external agents (cigarette smoke or viruses).</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"308-320"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989722","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":"[Intoxications with trace metal elements: A new concept of the metal profile].","authors":"Youssef Moutaouakkil, Radia Mounir, Mina Ait El Cadi, Jamel Lamsaouri, Yassir Bousliman, Rachid ElJaoudi","doi":"10.1684/abc.2024.1898","DOIUrl":"10.1684/abc.2024.1898","url":null,"abstract":"<p><p>Present in quantities ranging from hundreds of milligrams to several grams in various environmental compartments, trace metal elements (TMEs), formerly known as \"heavy metals,\" have been the subject of much discussion in recent years due to their major toxicological impact on human health. They are divided into essential elements such as iron, zinc, copper, selenium, manganese, and toxic elements such as mercury, cadmium, lead, lithium, and arsenic. Essential trace elements play a vital role in the body, and their deficiency can alter important physiological functions, while toxic elements have no physiological role and can lead to serious illnesses. However, essential elements can also cause intoxication depending on their concentrations and chemical forms. The industrialization of the modern world exposes the global population to high concentrations of trace elements that can be toxic in the short or long term. These TMEs enter the human body through various pathways (inhalation, ingestion, or dermal contact). The clinical manifestations of TME intoxications are highly varied and nonspecific, making their diagnosis and management difficult. Inductively coupled plasma mass spectrometry (ICP-MS) allows the detection of TME intoxications. Indeed, it enables the simultaneous quantification of around thirty trace metal elements in biological media. Thus, it has led to the establishment of a new approach: the metal profile, which has many applications in clinical biology and clinical, forensic, occupational, or environmental toxicology.</p>","PeriodicalId":93870,"journal":{"name":"Annales de biologie clinique","volume":"82 3","pages":"254-265"},"PeriodicalIF":0.0,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141989720","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}