Annales de biologie clinique最新文献_第7页

Professor Gérard Siest, the smiley IFCC President, always looking to the future gassrard Siest教授，笑脸盈盈的IFCC主席，总是展望未来

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1760

J. Siest, Bernard Gouget

引用次数: 0

The financialization of medical laboratories in France: what are the risks for the profession and public health? 法国医学实验室的金融化:对专业和公众健康的风险是什么?

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1763

Bernard Massoubre, Philippe Chatron, Michel Sautel, Dominique Porquet

引用次数: 0

New ISO standards for medical biology laboratories, prescriptions and deviations 新的ISO医学生物实验室、处方和偏差标准

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1755

Marco Pradella

引用次数: 0

Rare cause of life-threatening hypercalcemia in an infant: a case report. 婴儿危及生命的罕见原因高钙血症:1例报告。

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1747

Charles R. Lefèvre, Lucas Peltier, Anna Lokchine, Amélie Ryckewaert, Caroline Moreau

{"title":"Rare cause of life-threatening hypercalcemia in an infant: a case report.","authors":"Charles R. Lefèvre, Lucas Peltier, Anna Lokchine, Amélie Ryckewaert, Caroline Moreau","doi":"10.1684/abc.2022.1747","DOIUrl":"https://doi.org/10.1684/abc.2022.1747","url":null,"abstract":"Background: 25-Hydroxyvitamin D 24-hydroxylase (CYP24A1) deficiency is a rare cause of autosomal recessive infantile hypercalcemia due to vitamine D hypersensitivity.Case presentation: We report the case of a 2-year-old boy who presented with severe hypercalcemia-hypercalciuria and a bilateral nephrocalcinosis. Laboratory investigations detected a collapsed parathormone and a highly elevated 1α,25-dihydroxycholecalciferol along with an increased phosphate excretion (hypophosphatemia and hyperphosphaturia). An adapted management with two courses of palmidronic acid and an eviction of vitamin D and calcium allowed to stabilize him. A homozygous p.Leu409Ser pathogenic variant on CYP24A1 gene resulting in a collapsed 25-Hydroxyvitamin D24-hydroxylase activity was found. A normal development is possible with a meticulous clinical, biological and nutritional management and monitoring.Conclusions: Vitamin D hypersensitivity is challenging during childhood, especially due to the need to avoid vitamin D while requiring a close nutritional monitoring to maintain a normal growth. Biomarkers such as vitamin D metabolite ratio and 24,25(OH)2D3 along with ionized calcium and nutritional management can contribute to properly follow patients with vitamin D hypersensitivity.","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40547549","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}

引用次数: 1

Challenge and difficulty of diagnosing hemoglobinopathies in newborns: about a case 新生儿血红蛋白病诊断的挑战与困难:1例

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1746

Pauline Condom, Marie-Pierre Castex, Frédérique Dubois

引用次数: 0

Pulmonary cryptococcosis in a non-immunosuppressed patient 非免疫抑制患者的肺隐球菌病

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1748

Grégoire Pasquier, Emilie Guemas, Loïc Sobanska, Magalie Demar

引用次数: 0

Improving interactivity in scientific conferences by the use of new concept of academic posters 通过使用学术海报的新概念来提高科学会议的互动性

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1754

Ludovic Firrera, Fanny Lemonnier, Manon Deschildt, Guillaume Grzych

引用次数: 0

Anti-mitochondrial antibodies detection assays for diagnosis of primary biliary cholangitis in southern Tunisia population 突尼斯南部人群原发性胆道胆管炎的抗线粒体抗体检测分析

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1761

Sabrina Mejdoub, Zouhour Hamza, Hend Hachicha, Lassaad Chtourou, Sameh Marrzouk, Sawsan Feki, Ameni Jerbi, Semia Boukthir, Zouhir Bahloul, Nabil Tahri, Hatem Masmoudi

{"title":"Anti-mitochondrial antibodies detection assays for diagnosis of primary biliary cholangitis in southern Tunisia population","authors":"Sabrina Mejdoub, Zouhour Hamza, Hend Hachicha, Lassaad Chtourou, Sameh Marrzouk, Sawsan Feki, Ameni Jerbi, Semia Boukthir, Zouhir Bahloul, Nabil Tahri, Hatem Masmoudi","doi":"10.1684/abc.2022.1761","DOIUrl":"https://doi.org/10.1684/abc.2022.1761","url":null,"abstract":"Anti-mitochondrial antibodies (AMA) represent serological markers of primary biliary cholangitis (PBC). Investigation of these autoantibodies can be performed by indirect immunofluorescence (IIF) on tissue sections or immunodot using M2 and M2-3E antigens. We aimed to evaluate the concordance of these immunological tests and their performance in PBC diagnosis. We reviewed sera which were tested for autoimmune liver disease anti-bodies by IIF (EUROIMMUN®) and immunodot (EUROIMMUN®). Results of IIF (AMA) and immunodot (anti-M2 and anti-M2-3E) were analyzed. A focus was given on positive results for AMA and/or anti-M2 and/or anti-M2-3E. According to available clinical data, patients were divided into two groups \"PBC\" and \"Non PBC\". Three-hundred-nineteen sera were tested by both techniques. Results of AMA, anti-M2 and anti-M2-3E were concordant in 296 cases (92.8%). Indeed, the three biomarkers were negative in 237 cases (74.3%) and positive in 59 cases (18.5%). Eighty-two sera were tested positive for AMA and/or anti-M2 and/or anti-M2-3E. Clinical data were available for 30 patients. In \"PBC\" group (n = 15), AMA, anti-M2 and anti-M2-3E antibodies were positive in 14/15 cases. PBC diagnosis was made in 12/15 patients without requiring liver biopsy. In \"non PBC\" group (n = 15), AMA, anti-M2 and antiM2-3E antibodies were positive in 9/15 cases. However, PBC diagnosis was not reached in the absence of other diagnostic criteria. IIF represents a first-line technique for AMA detection while immunodot is useful to confirm antigenic specificity in IIF-AMA positive cases. Anti-M2 and/or anti-M2-3E can be detected in some IIF-AMA negative cases. Interpretation of these tests'results relays mainly on clinical context.","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40456897","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}

引用次数: 0

Neurofilaments: a key new biomarker for clinicians. Part 2: Neurofilaments, an asset beyond neurodegenerative diseases 神经丝:临床医生重要的新生物标志物。第二部分:神经丝，超越神经退行性疾病的资产

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1758

Constance Delaby, Olivier Bousiges, Damien Bouvier, Catherine Fillée, Anthony Fourier, Étienne Mondésert, Nicolas Nezry, Souheil Omar, Isabelle Quadrio, Benoit Rucheton, Susanna Schraen-Maschke, Vincent van Pesch, Stéphanie Vicca, Sylvain Lehmann, Aurélie Bedel

{"title":"Neurofilaments: a key new biomarker for clinicians. Part 2: Neurofilaments, an asset beyond neurodegenerative diseases","authors":"Constance Delaby, Olivier Bousiges, Damien Bouvier, Catherine Fillée, Anthony Fourier, Étienne Mondésert, Nicolas Nezry, Souheil Omar, Isabelle Quadrio, Benoit Rucheton, Susanna Schraen-Maschke, Vincent van Pesch, Stéphanie Vicca, Sylvain Lehmann, Aurélie Bedel","doi":"10.1684/abc.2022.1758","DOIUrl":"https://doi.org/10.1684/abc.2022.1758","url":null,"abstract":"Neurofilaments (Nf) are proteins selectively expressed in the cytoskeleton of neurons, and their increase is a marker of neuronal damage. The potential utility of neurofilament light chain (NfL) has recently increased considerably, well beyond neurodegenerative diseases, due to analytical advances that allow measurement of their concentrations (even low ones) in cerebrospinal fluid and blood. This article completes the first part, in which we presented the interest of NfL in the context of neurodegenerative diseases. Here we focus our review on other clinical contexts of neurological injury (such as traumatic brain injury, multiple sclerosis, stroke, and cancer) and present the potential value of NfL assay in the management of these patients, for both diagnosis and prognosis. We also discuss the added value of the NfL assay compared to other biomarkers commonly used in the described clinical situations.","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40568474","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}

引用次数: 1

Waldenstrom’s macroglobulinemia highlighted by turbidity interference: a case report 以浊度干扰为突出表现的华登斯特罗姆大球蛋白血症1例报告

IF 0.5 4区医学

Annales de biologie clinique Pub Date : 2022-09-01 DOI: 10.1684/abc.2022.1752

Pauline Masson, Ecaterina Chutova, Charlotte Oris, Louis-Thomas Dannus, Vincent Sapin, Damien Bouvier

{"title":"Waldenstrom’s macroglobulinemia highlighted by turbidity interference: a case report","authors":"Pauline Masson, Ecaterina Chutova, Charlotte Oris, Louis-Thomas Dannus, Vincent Sapin, Damien Bouvier","doi":"10.1684/abc.2022.1752","DOIUrl":"https://doi.org/10.1684/abc.2022.1752","url":null,"abstract":"A 65-year-old female was admitted to the Emergency Department for a fall. Upon admission, a blood sample was drawn for routine laboratory tests. Blood glucose measurement using the hexokinase method was made impossible due to a high lipemia index measured by the instrument despite a clear plasma specimen. It is well known that hemolysis, icterus, and lipemia interferences disrupt spectrophotometric quantifications. However, in this case, the absence of lipemia was confirmed by plasma triglycerides measurement in the normal reference range. Protein electrophoresis along with an immunofixation were carried out to characterize a monoclonal gammopathy since the presence of a monoclonal gammopathy in very high concentrations generates turbidity and interferes with spectrophotometric assays. A gamma peak evoking a monoclonal gammopathy was found on the serum electrophoresis and the immunofixation was positive for a monoclonal IgM kappa. Myelogram showed plasmocytes, lymphoplasmacytic cells and mast cells infiltration which led to the diagnosis of Waldenstrom macroglobulinemia. Based on this case, we propose a course of action to be taken in the case of a high lipemia index and clear plasma.","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":null,"pages":null},"PeriodicalIF":0.5,"publicationDate":"2022-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40568472","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}

引用次数: 0