Annales de biologie clinique最新文献

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[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis]. 磷酸三糖异构酶缺乏症:一种罕见的红细胞酶病,预后不良。
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1789
Mélissa Julien, Calina Todosi, Fanny Fouyssac, Jean-François Lesesve, Delphine Gérard, Julien Perrin
{"title":"[Triose phosphate isomerase deficiency: a rare erythrocyte enzymopathy with a poor prognosis].","authors":"Mélissa Julien,&nbsp;Calina Todosi,&nbsp;Fanny Fouyssac,&nbsp;Jean-François Lesesve,&nbsp;Delphine Gérard,&nbsp;Julien Perrin","doi":"10.1684/abc.2023.1789","DOIUrl":"https://doi.org/10.1684/abc.2023.1789","url":null,"abstract":"<p><p>Triose phosphate isomerase (TPI) is a crucial enzyme for glycolysis. TPI deficiency is an autosomal recessive metabolic disease described in 1965, which remains exceptional by its rarity (less than 100 cases described worldwide), but by its extreme severity. Indeed, it is characterized by a chronic hemolytic anemia, an increased susceptibility to infections and especially, a progressive neurological degeneration which leads to death in early childhood for the majority of cases. We report in our observation the history of diagnosis and clinical course of monozygotic twins born at 32 WA with triose phosphate isomerase deficiency.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 2","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9218232","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
[Immuno-analytical characteristics of PSA and derived biomarkers (total PSA, free PSA, p2PSA)]. [PSA及其衍生生物标志物(总PSA、游离PSA、p2PSA)的免疫分析特征]。
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1782
Cédric Desbène, Mathieu Boissan, Sylvain Loric, Pierre-Jean Lamy, Laurence Piéroni
{"title":"[Immuno-analytical characteristics of PSA and derived biomarkers (total PSA, free PSA, p2PSA)].","authors":"Cédric Desbène,&nbsp;Mathieu Boissan,&nbsp;Sylvain Loric,&nbsp;Pierre-Jean Lamy,&nbsp;Laurence Piéroni","doi":"10.1684/abc.2023.1782","DOIUrl":"https://doi.org/10.1684/abc.2023.1782","url":null,"abstract":"<p><p>Prostate-specific antigen (PSA) is the recommended tumor marker for individual screening and follow-up of prostate cancer. This paper reviews main structural and physiological data about prostate specific antigen isoforms: total PSA, free PSA, [-2]proPSA (also named p2PSA). It describes the pre-, per- and post-analytical conditions for these different parameters. It presents the interpretation of results and derived calculated indices (free/total PSA ratio, Prostate Health Index or PHI) for the management of prostate cancer (initial diagnosis and follow-up).</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"7-23"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9208367","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
[Link beetween body mass index and semen parameters, a retrospective study from January 2015 to September 2021]. [2015年1月至2021年9月的回顾性研究,体重指数与精液参数之间的联系]。
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1790
Camille Pierrot, Béatrice Delepine, Pauline Lugassy
{"title":"[Link beetween body mass index and semen parameters, a retrospective study from January 2015 to September 2021].","authors":"Camille Pierrot,&nbsp;Béatrice Delepine,&nbsp;Pauline Lugassy","doi":"10.1684/abc.2023.1790","DOIUrl":"https://doi.org/10.1684/abc.2023.1790","url":null,"abstract":"<p><p>Male and female infertility has become a worldwide public health problem. The global obesity epidemic has paralleled a decrease in semen quality. Yet, the association between body mass index (BMI) and sperm parameters remains controversial. The objective of this study is to determine the link between body mass index and seminal parameters. We made an observational study and retrospective analysis. Men who made semen analysis during the period of January 2015 to September 2021 in Reims University Hospital, were included. A total of 1 655 patients were recruited and separated into five groups according to BMI values. Second- and third-degree obesity had a significantly higher risk of having a pathological sperm count (p: 0,0038). Second- and Third-degree obesity was associated with a pathologic vitality (p: 0,012). No significant differences existed between sperm mobility and body mass index. Regarding low body mass index, a significant difference exists on the sperm morphology (p: 0,013). Sperm morphology is also impacted in overweight and obesity groups. The information of the couples on weight is necessary to improve sperm parameters, spontaneous pregnancies and efficacity of assisted reproductive technic.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 2","pages":""},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9218236","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
Evans syndrome as initial presentation of COVID-19 infection: A case report and review of the literature Evans综合征作为COVID-19感染的初始表现:病例报告和文献回顾
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1787
Inès Ghariani, Néjia Jmili Braham, Leila Bekir
{"title":"Evans syndrome as initial presentation of COVID-19 infection: A case report and review of the literature","authors":"Inès Ghariani,&nbsp;Néjia Jmili Braham,&nbsp;Leila Bekir","doi":"10.1684/abc.2023.1787","DOIUrl":"https://doi.org/10.1684/abc.2023.1787","url":null,"abstract":"<p><p>Evans syndrome (ES) is a rare and chronic autoimmune disease characterized by the concomitant or sequential association of auto-immune hemolytic anemia (AIHA) with immune thrombocytopenia (ITP), and less frequently autoimmune neutropenia. Coronavirus disease 2019 (Covid-19) may cause various hematologic conditions. COVID-19 may also induce Evans syndrome via immune mechanisms. Here, we describe the case of a patient developing Evans syndrome as initial presentation of Covid-19 infection.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"91-95"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9516508","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
Evaluation of equations for calculating LDL-cholesterol in patients with concomitant hypertriglyceridemia and low LDL-cholesterol: is there a preferred equation? 对合并高甘油三酯血症和低ldl -胆固醇患者的ldl -胆固醇计算公式的评价:是否有一个更好的公式?
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1781
Vanda Barakett-Hamadé, Jean Pierre Ghayad, Ghassan Sleilaty
{"title":"Evaluation of equations for calculating LDL-cholesterol in patients with concomitant hypertriglyceridemia and low LDL-cholesterol: is there a preferred equation?","authors":"Vanda Barakett-Hamadé,&nbsp;Jean Pierre Ghayad,&nbsp;Ghassan Sleilaty","doi":"10.1684/abc.2023.1781","DOIUrl":"https://doi.org/10.1684/abc.2023.1781","url":null,"abstract":"<p><p>It is critical to reliably estimate Low Density Lipoprotein Cholesterol (LDL-C) in patients with concomitant hypertriglyceridemia and low LDL-C. We retrospectively compared the performances of the Friedewald (LDL-F), Martin-Hopkins (LDL-MH) and Sampson (LDL-SA) equations against a direct homogeneous LDL-C assay (dLDL-C) on observations presenting mild hypertriglyceridemia (triglycerides between 1.69 and 3.9 mmol/L) and low LDL-C (< 2.58 mmol/L). Observations were stratified according to their LDL-C. Agreement of the equations with dLDL-C was assessed using Intraclass Correlation Coefficients (ICC) with an agreement cut-off of 0.9, and analysis of Bland-Altman plots. Independently of the LDL-C stratum evaluated, the three equations failed to meet the 0.9 ICC cut-off, although their agreement with dLDL-C improves as LDL-C increases. Analysis of Bland-Altman plots shows a downwards discordance of LDL-F with dLDL-C, and an upwards discordance of LDL-MH and LDL-SA with direct LDL-C. LDL-MH resulted in the least observations outside the Bland-Altman limits of agreement. While no equation can be deemed satisfactory enough to replace direct assays in patients with low LDL-C and concomitant hypertriglyceridemia, LDL-MH seems to perform better than the other equations in estimating LDL-C in these patients.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"35-43"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9164680","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
Susceptibility of urinary Enterobacteriaceae to selected antimicrobials in an out-patient setting in Wallonia-Belgium: retrospective analysis over 5 years period (2018-2022). 比利时瓦隆尼亚门诊尿肠杆菌科对选定抗菌药物的敏感性:5年(2018-2022)回顾性分析。
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1780
Nadim Azar, Moustapha Khodor, Jacques Choucair, Monzer Hamze, Henri Pirenne
{"title":"Susceptibility of urinary Enterobacteriaceae to selected antimicrobials in an out-patient setting in Wallonia-Belgium: retrospective analysis over 5 years period (2018-2022).","authors":"Nadim Azar,&nbsp;Moustapha Khodor,&nbsp;Jacques Choucair,&nbsp;Monzer Hamze,&nbsp;Henri Pirenne","doi":"10.1684/abc.2023.1780","DOIUrl":"https://doi.org/10.1684/abc.2023.1780","url":null,"abstract":"<p><strong>Objective: </strong>Increasing antimicrobial resistance in urinary tract infection is a major healthcare concern. In this study, we evaluate the patterns of resistance exhibited by the most implicated microorganisms in urine infections. This approach is a prerequisite for an appropriate and successful empiric therapy in ambulatory patients.</p><p><strong>Methods: </strong>A retrospective study was carried out from January 2018 to September 2022 in Synlab-Collard laboratory, Liège, Belgium; a total of 129,939 Enterobacteriaceae isolated from 120,616 positive urine sample were included.</p><p><strong>Results: </strong>Sex ratio is 81.6% female and 18.4% male. E. coli is the most common urinary pathogen (70.4% of cases), followed by Klebsiella spp. (13.5%), Proteus spp. (8.5%), and Citrobacter spp. (2.5%). Ampicillin shows the highest resistance at 56%. Nitrofurantoin, the recommended antimicrobial treatment for cystitis in Belgium, expresses an overall resistance rate of 19% in females and 32% in males peaking at 43% in males over 80 years. Fosfomycin and ciprofloxacin display higher resistance rates in subjects over the age of 80 (18%, 24% in females, and 25%, 35% in males respectively). Trimethoprim shows 24% and 29% resistance rate in females and males over the age of 80 respectively.</p><p><strong>Conclusion: </strong>Even if empiric treatment of suspected UTIs may be of benefit in some cases, it is important for healthcare providers to carefully consider its limitations and evaluate its potential failure rate based on the resistance profiles of urinary Enterobacteriaceae. Susceptibility tests should be performed, and treatments adjusted especially in elderly populations.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"52-60"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9119814","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
Highlights from a Presentation by Prof Nader Rifaï on Looking Into the Future of Scientific Publishing: The Clinical Chemistry Expérience Nader教授Rifaï关于展望科学出版的未来:临床化学实验的演讲要点
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1779
Bernard Gouget, Jean-Marc Giannoli
{"title":"Highlights from a Presentation by Prof Nader Rifaï on Looking Into the Future of Scientific Publishing: The Clinical Chemistry Expérience","authors":"Bernard Gouget,&nbsp;Jean-Marc Giannoli","doi":"10.1684/abc.2023.1779","DOIUrl":"https://doi.org/10.1684/abc.2023.1779","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"103-104"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9516504","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
Massive bone marrow involvement with blastic cells does not always define an acute leukaemia 大量骨髓受累到胚细胞并不一定就是急性白血病
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1788
Lucie Coster, Solène Evrard, Laurie Schuppe, Jean-Baptiste Rieu
{"title":"Massive bone marrow involvement with blastic cells does not always define an acute leukaemia","authors":"Lucie Coster,&nbsp;Solène Evrard,&nbsp;Laurie Schuppe,&nbsp;Jean-Baptiste Rieu","doi":"10.1684/abc.2023.1788","DOIUrl":"https://doi.org/10.1684/abc.2023.1788","url":null,"abstract":"","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"101-102"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9120137","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
Neonatal leukemia and Blueberry Muffin Baby Syndrome: About a case of trisomy 21 新生儿白血病和蓝莓松饼婴儿综合征:21三体1例
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1784
Hicham Yahyaoui, Mohamed Amine Azami, Nadia El Mrimar, Abderrahim Raissi, Nadia El Idrissi Slitine, Fatiha Bennaoui, Mustapha Ait Ameur, Fadl Mrabih Rabih Maoulainine, Mohammed Chakour
{"title":"Neonatal leukemia and Blueberry Muffin Baby Syndrome: About a case of trisomy 21","authors":"Hicham Yahyaoui,&nbsp;Mohamed Amine Azami,&nbsp;Nadia El Mrimar,&nbsp;Abderrahim Raissi,&nbsp;Nadia El Idrissi Slitine,&nbsp;Fatiha Bennaoui,&nbsp;Mustapha Ait Ameur,&nbsp;Fadl Mrabih Rabih Maoulainine,&nbsp;Mohammed Chakour","doi":"10.1684/abc.2023.1784","DOIUrl":"https://doi.org/10.1684/abc.2023.1784","url":null,"abstract":"<p><p>Acute leukemias are rare disease in the neonatal period. They occur preferentially in newborns with trisomy 21. They often manifest as hepatosplenomegaly, extra-hematopoietic involvement and hyperleukocytosis. Blueberry Muffin Baby syndrome is observed in the neonatal period. Neonatal acute myeloïd leukemia (AML) is more common than acute lymphoid leukemia (ALL). Despite treatment, neonatal acute leukemias have a poor prognosis with a low percentage of overall survival. We report a case of neonatal AML on a ground of trisomy 21 revealed by a Blueberry Muffin Baby syndrome.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"96-100"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9120138","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
Antinuclear antibodies in children: indirect immunofluorescence patterns, antigen targets and associated diagnoses 儿童抗核抗体:间接免疫荧光模式、抗原靶点和相关诊断
IF 0.5 4区 医学
Annales de biologie clinique Pub Date : 2023-03-15 DOI: 10.1684/abc.2023.1777
Hind Zrikem, Fatima E Eddebhi, Raja Hazime, Brahim Admou
{"title":"Antinuclear antibodies in children: indirect immunofluorescence patterns, antigen targets and associated diagnoses","authors":"Hind Zrikem,&nbsp;Fatima E Eddebhi,&nbsp;Raja Hazime,&nbsp;Brahim Admou","doi":"10.1684/abc.2023.1777","DOIUrl":"https://doi.org/10.1684/abc.2023.1777","url":null,"abstract":"<p><p>Antinuclear antibodies tests are of a paramount importance in the diagnosis, classification, prognostic evaluation and management of autoimmune diseases in children. The present study aimed to describe the immuno-clinical profile of antinuclear antibodies tests in a pediatric population in order to guide the clinical practice of biologists and clinicians. Our study enrolled 268 children. Antinuclear antibodies screening was performed using the indirect immunofluorescence assay on HEp-2 cells. Identification of target antigens was conducted using separately or at one timepoint the following techniques: enzyme-linked immunosorbent assay, Immunodot and Chemiluminescence. The average age of patients was 9.6 ± 4.3 years, with a female predominance (sex-ratio = 1.9). Antinuclear antibodies screening was positive in 40.67% of cases. The most frequently observed antinuclear antibodies patterns were speckled (52.3%), homogeneous (13.8%) and mixed homogeneous-speckled (13.8%). Autoantibodies were detected in 4 patients (2.51%) for whom ANA testing using the indirect immunofluorescence assay was negative. Positive antinuclear antibodies specificities were detected in connective tissue diseases (44.03%; n = 48), organ-specific autoimmune diseases (10.09%; n = 11), and in non-autoimmune conditions (inflammatory diseases, infections, hematological diseases, vasculitis and Wilson’s disease) (32.08%; n = 35). Our study revealed a high rate of positive antinuclear antibodies tests in the pediatric population, mainly related to autoimmune diseases (54.12%) besides non-autoimmune conditions (32.08%). Therefore, screening and interpretation of antinuclear antibodies testing in children require the consideration of clinical data and a close collaboration between clinicians and biologists.</p>","PeriodicalId":7892,"journal":{"name":"Annales de biologie clinique","volume":"81 1","pages":"24-34"},"PeriodicalIF":0.5,"publicationDate":"2023-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9120136","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
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