Clinical biochemistry最新文献

{"title":"Carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco: Implications for blood donation and genetic diagnosis","authors":"Ihab Belmokhtar ,&nbsp;Karam Yahya Belmokhtar ,&nbsp;Saida Lhousni ,&nbsp;Majida Charif ,&nbsp;Zaina Sidqi ,&nbsp;Rachid Seddik ,&nbsp;Mohammed Choukri ,&nbsp;Mohammed Bellaoui ,&nbsp;Redouane Boulouiz","doi":"10.1016/j.clinbiochem.2024.110840","DOIUrl":"10.1016/j.clinbiochem.2024.110840","url":null,"abstract":"<div><h3>Background</h3><div>Hemoglobinopathies represent the most commonly inherited autosomal recessive blood disorders in the world. The aim of this study was to determine the carrier frequency and molecular basis of hemoglobinopathies among blood donors in eastern Morocco. This is the first study of its kind for this country.</div></div><div><h3>Methods</h3><div>Healthy blood donors of the BRO Biobank were included in this study. Blood samples were analyzed using an automatic blood cell analyzer for complete blood counts. Hemoglobin fractions were analyzed by capillary electrophoresis and serum ferritin was measured on a chemical and immunological analyzer. Suspected hemoglobinopathy carriers were further characterized by Sanger sequencing, Gap PCR and PCR-RFLP.</div></div><div><h3>Results</h3><div>The study involved 2013 blood donors, of whom 1063 were male and 950 were female (sex ratio male-to-female of 1.1). The median age of these donors was 35 years. The overall carrier frequency of hemoglobinopathies was 1.84 %, with β-thalassemia carriers being the most prevalent (0.65 %) followed by HbAC (0.55 %), α-thalassemia carriers (0.30 %), HbAS (0.1 %), HbAG-Philadelphia (0.1 %), HbAD-Ouled Rabah (0.05 %) and HbAO-Arab (0.05 %). Additionally, novel β-thalassemia variants (C6(−G) and −83(A &gt; G)) and a structural variant (Hb D-Ouled Rabah) were discovered for the first time in Morocco.</div></div><div><h3>Conclusions</h3><div>This study provided the first report on carrier frequency and molecular basis of hemoglobinopathies among healthy donors in Morocco. These findings are valuable for the implementation of carrier screening and genetic diagnosis for hemoglobinopathies. Furthermore, these results justify the need to introduce pre-donation screening for hemoglobinopathy carriers in Morocco, particularly in areas with a high prevalence of carriers to enhance the overall quality of the national blood supply.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"135 ","pages":"Article 110840"},"PeriodicalIF":2.5,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142615625","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Quantitative evaluation of adalimumab and anti-adalimumab antibodies in sera using a surface plasmon resonance biosensor","authors":"Andrea Di Santo ,&nbsp;Matteo Accinno ,&nbsp;Fosca Errante ,&nbsp;Manuela Capone ,&nbsp;Alessandra Vultaggio ,&nbsp;Eleonora Simoncini ,&nbsp;Giuditta Zipoli ,&nbsp;Lorenzo Cosmi ,&nbsp;Francesco Annunziato ,&nbsp;Paolo Rovero ,&nbsp;Feliciana Real Fernandez","doi":"10.1016/j.clinbiochem.2024.110838","DOIUrl":"10.1016/j.clinbiochem.2024.110838","url":null,"abstract":"<div><h3>Objectives</h3><div>Monitoring of therapeutic antibody adalimumab (ADL) and of anti-adalimumab antibodies (AAA) in autoimmune diseases patients' sera has achieved increased attention since several studies showed a correlation between AAA levels and treatment failure. We evaluated a new surface plasmon resonance (SPR)-based method that, with slight changes in the analysis condition and in the ligand immobilized on the chip surface, allows to monitor both AAA and ADL. This new label-free method does not require sample pretreatments, and it is fully automated, only requiring the preparation of the chip, which can be used for multiple analysis, and the preparation of the sample sets.</div></div><div><h3>Design &amp; Methods</h3><div>Sera from ADL-treated patients (n = 47) and controls (n = 13) were included in this study. Quantitative analysis of AAA and ADL were performed separately using a new SPR-biosensor, and a commercially available ELISA kit. Agreement was defined by overall, positive, and negative agreement. Wilson Score was used to calculate confidence intervals (CI) on binomial probability and Spearman’s rho and Bland-Altman test were used to assess correlations.</div></div><div><h3>Results</h3><div>ELISA and SPR-based assay were able to identify circulating AAA in ADL-treated patients, with the percentage of positivity varying among the methods, with an overall agreement of 79%. AAA were detected in 18 (38 %) out of the 47 treated patients by the ELISA whereas SPR-based assay detected 10 (21 %) out of 47 samples.</div></div><div><h3>Conclusions</h3><div>Real-time label free SPR-based protocol for both AAA and ADL quantification has been set-up. Although quantitative differences were observed when compared with ELISA, the agreement among methodologies was high, particularly for ADL quantification within the therapeutic window of the drug.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110838"},"PeriodicalIF":2.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Challenges and Perspectives on the Adoption of Cystatin C testing in China: A laboratory technician’s perspective","authors":"Xiaerbanu Nizhamuding ,&nbsp;Yang Liu ,&nbsp;Jie Zeng ,&nbsp;Haijian Zhao ,&nbsp;Tianjiao Zhang ,&nbsp;Chuanbao Zhang","doi":"10.1016/j.clinbiochem.2024.110839","DOIUrl":"10.1016/j.clinbiochem.2024.110839","url":null,"abstract":"<div><div>Cystatin C (CysC) belongs to the cysteine protease inhibitor superfamily and is produced by all nucleated cells in the body in very stable amounts independent of age, sex, diet, and muscle mass. CysC is considered an ideal biomarker for assessing glomerular filtration rate (GFR) compared to traditional biomarkers for assessing GFR, such as creatinine. However, CysC is not sufficiently utilized for GFR assessment by clinicians, probably for various reasons such as insufficient understanding among clinicians or a lack of standardized quantitative methods. This review discusses and analyzes the aforementioned issues from the perspective of laboratory technicians.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110839"},"PeriodicalIF":2.5,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inflammation and lipoperoxidation in mucopolysaccharidoses type II patients at diagnosis and post-hematopoietic stem cell transplantation","authors":"Camila Aguilar Delgado ,&nbsp;Franciele Fátima Lopes ,&nbsp;Jéssica Lamberty Faverzani ,&nbsp;Graziela Schmitt Ribas ,&nbsp;Desirèe Padilha Marchetti ,&nbsp;Carolina Fischinger Moura de Souza ,&nbsp;Roberto Giugliani ,&nbsp;Guilherme Baldo ,&nbsp;Carmen Regla Vargas","doi":"10.1016/j.clinbiochem.2024.110834","DOIUrl":"10.1016/j.clinbiochem.2024.110834","url":null,"abstract":"<div><h3>Introduction</h3><div>Mucopolysaccharidosis type II (MPS II) is caused by deficiency of the enzyme iduronate-2-sulfatase; one possible therapy for MPS II is hematopoietic stem cell transplantation (HSCT). It is established that there is excessive production of reactive species in MPS II patients, which can trigger several processes, such as the inflammatory cascade.</div></div><div><h3>Objectives</h3><div>Our aim was to outline an inflammatory profile and lipoperoxidation of MPS II patients for a better understanding of disease and possible benefits that HSCT can bring in these processes.</div></div><div><h3>Materials and Methods</h3><div>We investigate oxidative damage to lipids by 15-F2t-isoprostane urinary concentrations and plasma pro-and anti-inflammatory cytokine concentrations in MPS II patients at diagnosis, MPS II post-HSCT patients, and controls.</div></div><div><h3>Results</h3><div>Interleukin (IL)-1β and IL-17a concentrations were significantly increased and a tendency toward increased IL-6 production in the diagnosis group was verified. We found significant decrease in IL-4 and increase in 15-F2t-isoprostane concentrations in the diagnosis group, while IL-1β, IL-6, IL-17a and 15-F2t-isoprostane concentrations were similar between control and post-HSCT groups.</div></div><div><h3>Conclusions</h3><div>Our study demonstrated that MPS II patients at diagnosis are in a pro-inflammatory state, bringing a novel result showing increased production of IL-17a, an osteoclastogenic cytokine, as well as demonstrating that these patients have oxidative damage to lipids. Furthermore, evidence suggests that HSCT can reduce inflammation and lipoperoxidation in MPS II patients.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110834"},"PeriodicalIF":2.5,"publicationDate":"2024-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multidisciplinary approach to redefining thyroid hormone reference intervals with big data analysis","authors":"Cody W. Lewis ,&nbsp;Joshua E. Raizman ,&nbsp;Victoria Higgins ,&nbsp;Jessica L. Gifford ,&nbsp;Christopher Symonds ,&nbsp;Gregory Kline ,&nbsp;Jacques Romney ,&nbsp;Manpreet Doulla ,&nbsp;Carol Huang ,&nbsp;Allison A. Venner","doi":"10.1016/j.clinbiochem.2024.110835","DOIUrl":"10.1016/j.clinbiochem.2024.110835","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aimed to employ big data analysis to harmonize reference intervals (RI) for thyroid function tests, with refinement to the TSH upper reference limit, and to optimize the TSH reflex algorithm to improve clinical management and test utilization.</div></div><div><h3>Design &amp; methods</h3><div>TSH, free T4, and free T3 results tested in Alberta, Canada, on Roche Cobas and Siemens Atellica were extracted from the laboratory information system (N = 1,144,155 for TSH, N = 183,354 for free T4 and N = 92,632 for free T3). Results from specialists, inpatients, or repeat testing, as well as from positive thyroid disease, autoimmune disease, and pregnancy biomarkers were excluded. RIs were derived using statistical models (Bhattacharya, refineR, and simple non-parametric) followed by endocrinology and laboratory review.</div></div><div><h3>Results</h3><div>The TSH RIs for 0 to 7 days, 8 days to 1 year, and ≥1 year were 1.23 to 25.0 mIU/L, 1.00 to 6.80 mIU/L and 0.20 to 6.50 mIU/L, respectively. The free T4 RIs for 0 to 14 days, 15 to 29 days, and ≥30 days were 13.5 to 50.0 pmol/L, 8.7 to 32.5 pmol/L, and 10.0 to 25.0 pmol/L, respectively. An updated TSH reflex algorithm was developed based on the optimized TSH and free T4 RIs, with free T4 reflexed only at a TSH of &lt;0.1 mIU/L.</div></div><div><h3>Conclusions</h3><div>The collaboration of a multidisciplinary team and the utilization of big data analysis led to the enhancement of thyroid function RIs, specifically resulting in the widening of the upper TSH reference limit to 6.50. Application of these optimized RIs with the TSH reflex algorithm will serve as a guide for improvement in interpretation of thyroid function tests.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110835"},"PeriodicalIF":2.5,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142496118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between analytical imprecision and coefficient of determination (R2) of the calibration curve","authors":"Wan Ling Cheng ,&nbsp;Hui Qi Low ,&nbsp;Suru Chew ,&nbsp;Chun Yee Lim ,&nbsp;Tze Ping Loh","doi":"10.1016/j.clinbiochem.2024.110833","DOIUrl":"10.1016/j.clinbiochem.2024.110833","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110833"},"PeriodicalIF":2.5,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142433908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of a novel 8.2 kb deletion causing beta-thalassemia","authors":"Ge Wang ,&nbsp;Haoyang Huang ,&nbsp;Li Chen ,&nbsp;Qizhi Xiao ,&nbsp;Wei Zhang ,&nbsp;Qianqian Zhang","doi":"10.1016/j.clinbiochem.2024.110832","DOIUrl":"10.1016/j.clinbiochem.2024.110832","url":null,"abstract":"<div><h3>Background</h3><div>Thalassemia is a prevalent monogenic blood disorder, clinically classified into alpha- and beta-thalassemia, characterized by the imbalance of the alpha- and beta-globin chains that constitute adult hemoglobin. Copy number variations (CNVs) and single nucleotide variants in globin genes are the primary genetic defects causing thalassemia.</div></div><div><h3>Case report</h3><div>During a prenatal examination, a pregnant woman was suspected to be a carrier of thalassemia, exhibiting microcytic hypochromic anemia and abnormal hemoglobin constituents. Gap-polymerase chain reaction (Gap-PCR) and reverse dot blot (PCR-RDB) techniques did not detect any common thalassemia mutations. We conducted hematological examination and further genetic analyses on the proband’s family with three generations. Multiplex ligation-dependent probe amplification (MLPA) was employed to identify CNVs, targeted next-generation sequencing was used to screen for potential pathogenic variants, which were subsequently validated by Sanger sequencing. The hematological parameters of the proband, her father and her son all indicated they were beta-thalassemia carriers. MLPA results revealed a large deletion in beta-globin cluster. Further investigation confirmed the presence of a novel 8.2 kb deletion (NC_000011.10:g.5224208_5232469del) in the proband, her father, and her son, specifically covering the entire <em>HBB</em> gene while not impacting other globin genes.</div></div><div><h3>Conclusion</h3><div>We found a novel 8.2 kb deletion leading to beta-thalassemia in a Chinese family in which three generations had been affected. This novel deletion may broaden the spectrum of known mutations in thalassemia and provide a reference for clinically suspected cases.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110832"},"PeriodicalIF":2.5,"publicationDate":"2024-10-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142388476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"2024 CSCC / SQBC Joint Annual Conference","authors":"","doi":"10.1016/j.clinbiochem.2024.110805","DOIUrl":"10.1016/j.clinbiochem.2024.110805","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110805"},"PeriodicalIF":2.5,"publicationDate":"2024-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142424672","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The changing landscape of autoantibody testing in myasthenia gravis in the setting of novel drug treatments","authors":"Ali Mousavi ,&nbsp;Pankaj Kumar ,&nbsp;Hans Frykman","doi":"10.1016/j.clinbiochem.2024.110826","DOIUrl":"10.1016/j.clinbiochem.2024.110826","url":null,"abstract":"<div><div>Acquired myasthenia gravis (MG) is an autoimmune disease targeting the specific proteins in the postsynaptic muscle membrane. 50% of ocular and 80% of generalized MG have acetylcholine receptor antibodies (AChR Abs). 1–10% of MG patients have antibodies against muscle-specific kinase (MuSK), and 2–50 % of seronegative MG cases have antibodies against lipoprotein-receptor-related protein4 antibodies (LRP4 Abs). Serological testing is crucial for diagnosing and determining the appropriate therapeutic approach for MG patients. The radioimmunoprecipitation assay (RIPA) method is a historical standard test for detecting the AChR Abs and MuSK Abs. While it has nearly 100% specificity in the AChR Abs detection, its sensitivity is between 50––92%. The sensitivity and specificity of RIPA for detecting MuSK Abs is much lower. The fixed and live Cell-Based assays (f-CBA and L- CBA) have higher sensitivity than RIPA. With advancements in the serological diagnosis and management of MG, we now recommend a complete reflex testing algorithm on the first pretreatment sample of a suspected MG patient, starting with the binding and blocking assays for AChR Abs by RIPA and/ or f-CBA. If AChR Ab is negative, then reflex to MuSK Abs by RIPA and/ or CBAs. If AChR and MuSK Abs are negative, then use clustered L-CBA by request.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110826"},"PeriodicalIF":2.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364597","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impact of blood volume, air exposure duration, transport duration, and testing delay on plasma total carbon dioxide in simulated open collections using microtainers","authors":"Michael S. Reid ,&nbsp;Isolde Seiden Long ,&nbsp;Lawrence de Koning","doi":"10.1016/j.clinbiochem.2024.110831","DOIUrl":"10.1016/j.clinbiochem.2024.110831","url":null,"abstract":"<div><h3>Background</h3><div>Exposing blood specimens to air reduces plasma total carbon dioxide (TCO₂). We evaluated the degree of TCO₂ reduction attributed to open collection of neonatal blood in BD microtainers® (microtainers), microtainer transport duration and delayed testing of open plasma aliquots.</div></div><div><h3>Methods</h3><div>Venous blood was aliquoted into open microtainers in a 3x4 factorial design to simulate combined effects of blood volume (0.2–0.6 mL) and air exposure duration (0–5 min), with blood drawn in vacutainers as a control. Separate effects of in-hospital transport duration (0–120 min; whole blood), off-site transport duration (0–24 h; centrifuged whole blood), and the duration plasma aliquots remained open (0–120 min) were evaluated by repeated testing. Findings were analyzed using repeated-measures ANOVA and Student’s T-tests.</div></div><div><h3>Results</h3><div>In the factorial experiment, mean plasma TCO₂ in microtainers was on average 3.5 mmol/L lower than in vacutainers. Smaller blood volume but not greater air exposure duration significantly (p &lt; 0.05) reduced TCO₂. Mean TCO₂ in filled (0.6 mL; 1–5 min air exposure) microtainers was on average 2.9 mmol/L lower than in vacutainers. Simulated off-site transport of microtainers containing centrifuged whole blood significantly reduced TCO₂ (4 h; mean change = -1.5 mmol/L), as did delayed testing of aliquoted plasma (15 min; mean change = -1.3 mmol/L).</div></div><div><h3>Conclusions</h3><div>Plasma TCO₂ decreased with reduced microtainer blood volume, extended off-site transport duration of centrifuged whole blood and testing delay of aliquoted plasma. To minimize TCO₂ reduction, microtainers should be fully filled and tested rapidly. Laboratories should also consider whether an interpretive comment, correction factor or separate reference intervals are appropriate for these tests.</div></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"133 ","pages":"Article 110831"},"PeriodicalIF":2.5,"publicationDate":"2024-09-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142364595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}