Annals of Clinical Biochemistry最新文献

{"title":"A five-year retrospective analysis of a national external quality assessment program for urinary organic acid analysis in newborn screening for inherited metabolic disorders in China.","authors":"Yuxuan Du, Wei Wang, Yanling Yang, Zhiguo Wang","doi":"10.1177/00045632251332460","DOIUrl":"10.1177/00045632251332460","url":null,"abstract":"<p><p>ObjectivesUrinary organic acid analysis is crucial for diagnosing inherited metabolic disorders (IMDs). This study assesses the impact of an external quality assessment (EQA) scheme on standardizing urinary organic acid detection in China from 2019 to 2023.MethodsThis retrospective longitudinal study analysed data from the NCCL-E-25 EQA scheme for urinary organic acid analysis using gas chromatography-mass spectrometry (GC-MS). Ten batches of EQA data over 5 years were included, focussing on eight key organic acid metabolites. Robust statistical methods were used to evaluate laboratory performance, including regional variations, sample preparation methods, and laboratory types.ResultsParticipating laboratories increased from 43 in 2019 to 76 in 2023, with high participation rates (median 94.74%). All eight target compounds showed significant reductions in robust coefficient of variation (CV) over time. Regional performance disparities narrowed, converging by 2022-2023. Extraction preparation methods generally outperformed non-extraction methods. Newborn Screening Centers (NBSCs) demonstrated lower robust CVs compared to non-NBSCs.ConclusionsThe EQA scheme effectively improved and standardized laboratory testing quality nationwide, particularly benefiting central and western regions. The study highlights the importance of standardized protocols and continuous improvement in enhancing IMD diagnostic accuracy. Future efforts should focus on encouraging wider participation, especially from underrepresented regions, and integrating quantitative and diagnostic capability assessments to comprehensively evaluate laboratory performance.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251332460"},"PeriodicalIF":2.1,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143673194","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":"Decrease in the internal quality control intermediate reproducibility imprecision of Cystatin C results in China in the years from 2014 to 2023.","authors":"Zhixin Zhang, Jie Zeng, Wei Wang, Yuxuan Du, Shuai Yuan, Na Dong, Chuanbao Zhang, Zhiguo Wang","doi":"10.1177/00045632251329182","DOIUrl":"10.1177/00045632251329182","url":null,"abstract":"<p><p>ObjectivesWe evaluated the intermediate reproducibility imprecision of cystatin C results based on internal quality control (IQC) data.MethodsIQC data for cystatin C analyte were collected each year from 2014 to 2023. We used the coefficient of variation (CV) to evaluate the level of laboratory imprecision. Five performance specifications [1/3 total allowable error (TEa), 1/4TEa and three levels performance specifications based on biological variation] were used to calculate the proportion of laboratories with CVs less than or equal to the performance specifications, namely, the pass rate. Based on the reference interval of Chinese adult serum cystatin C (0.59-1.03 mg/L), the concentration of quality control materials was divided into two levels for CV analysis: Level 1 (≤1.03 mg/L) and Level 2 (>1.03 mg/L). Additionally, group analysis was conducted according to the reagent manufacturer. Peer groups were further divided based on instruments to study differences between instruments. Boxplots were drawn to analyze trends in CVs, and differences in CVs among different groups were assessed using the Kruskal-Wallis test and Mann-Whitney U test.ResultsThe number of participating laboratories increased significantly from 255 in 2014 to 1814 in 2023. The intermediate reproducibility imprecision of Cystatin C IQC results in China had decreased from 5.1% (CV%) in 2014 to 3.3% in 2023. The pass rates based on 1/3 TEa showed upward trends increasing from 67% in 2014 to 88% in 2023. The pass rates for the other four performance specifications were all below 80%. The CVs of two concentration levels showed significant differences in most years. Roche Diagnostics reagent manufacturer exhibited low intermediate reproducibility imprecision. The BSBE-Abbott Architect series platform achieved a 100% pass rate based on 1/3 TEa in 2023.ConclusionsThe intermediate reproducibility imprecision of cystatin C has been a continuous overall improvement in China. However, the performance specifications of Cystatin C based on BV are currently not applicable to some laboratories in China. In addition, attention should be paid to the differences in intermediate reproducibility imprecision between various analysis systems.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251329182"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630069","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":"Importance of the preanalytical phase: Elevation of protein levels in cerebrospinal fluid samples due to inappropriate containers.","authors":"Alberto Izquierdo-Martínez, Carmen Sánchez-Palacios","doi":"10.1177/00045632251330749","DOIUrl":"10.1177/00045632251330749","url":null,"abstract":"<p><p><b>Background:</b> Biomarkers in cerebrospinal fluid (CSF) are crucial for diagnosing, monitoring, and prognosing neurological disorders.<b>Purpose:</b> This study evaluates the impact of preanalytical variables, particularly container choice, on CSF protein measurements.<b>Analysis:</b> Using 30 CSF samples, we compared sterile, additive-free tubes and lithium heparin tubes without separator gel.<b>Results:</b> Protein levels were significantly elevated higher in heparin tubes (mean difference: 230.71 mg/dL, <i>P</i> < .001).<b>Conclusions:</b> This overestimation underscores the necessity of adhering to preanalytical protocols to avoid erroneous clinical interpretations and ensure accurate diagnostic outcomes.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251330749"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630073","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":"'Tired all the time': What general practitioners request and find in patients with tiredness/fatigue - an audit against NICE clinical knowledge summary of tiredness/fatigue in adults.","authors":"Sava Handjiev, Jennifer Nobes, Michael J Murphy","doi":"10.1177/00045632251329175","DOIUrl":"10.1177/00045632251329175","url":null,"abstract":"<p><p>BackgroundTiredness/fatigue is a common presenting complaint in primary care. Advice is available from the National Institute for Health and Care Excellence (NICE) Clinical Knowledge Summary (CKS) on its investigation. The application of this guidance has not been reported.AimTo audit the investigation of tiredness/fatigue in adults in primary care against NICE CKS recommendations.MethodsWe reviewed 16,889 primary care requests in 2019, where clinical details included: 'tired all the time' or 'TATT'; 'tired (ness)'; 'fatigue'. We report on how many first-line investigations recommended by the NICE CKS were requested, and, if they were, what the outcome was. We categorised outcomes as normal or abnormal, using relevant laboratory reference intervals.ResultsFirst-line investigations were requested, in decreasing order of frequency, as follows: full blood count (FBC) 89%, renal function (U&Es) 83%, liver function tests (LFTs) 80%, thyroid-stimulating hormone (TSH) 80%, bone profile 70%, C-reactive protein (CRP) 66%, plasma viscosity (PV) 46%, ferritin 9.4%, IgA tissue transglutaminase (TTG) 3.2%, and creatine kinase (CK) 1.4%. Likelihood of abnormal results was 37% for PV, 26% for ferritin, 25% for LFTs, 24% for bone profile, 23% for FBC, 15% for U&Es, 14% for CRP, 10% for TSH, 8% for CK, and 3% for TTG. (Requesting of diagnostic HbA1c (2.8%) was vetted in accordance with a local protocol; 59% of results were in the diabetic range).ConclusionThis is the first study to audit the application in primary care of NICE CKS advice on investigation of tiredness/fatigue in adults. Our findings provide an insight into 'real-world' primary care requesting behaviour, and outcomes of investigations.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251329175"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630092","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":"A simpler and more sensitive modified catalytic (bleomycin detectable) iron assay.","authors":"Mohan M Rajapurkar, Banibrata Mukhopadhyay, Suhas S Lele, Sudhir V Shah","doi":"10.1177/00045632251330176","DOIUrl":"10.1177/00045632251330176","url":null,"abstract":"<p><p>BackgroundIron is ubiquitously distributed in biology, only a miniscule amount exists as free is capable of catalysing production of highly toxic reactive hydroxyl radicle. This free iron also called; labile iron, non-transferrin bound iron or catalytic iron (CI). CI is measured by bleomycin detectable iron assay. The assay as described originally was difficult to perform accurately and reproducibly due to variations of pH in the assay mixture and due to the lack of properly diluted iron standards.MethodsIn our laboratory we modified the assay for serum/plasma so that the variations of pH in assay medium were constantly between 7.4 and 7.6 using acid diluted iron standards by multiple treatments of Chelex resin which is alkaline.ResultsIntra assay CV for low, medium, and high levels of catalytic iron was 0.05%, 0.61% and 0.68% whereas the interassay CV was 0.06%, 0.96% and 0.28% respectively. The modified assay is highly sensitive being able to detect levels as low as 0.1 μmoles/l. In patients on maintenance haemodialysis CI measured by the original assay failed to detect any catalytic iron in almost all of these samples whereas by modified method it was measurable in all patients with a mean of 0.66 ± 0.10 μmoles/l. Normal values for catalytic iron in subjects having no comorbidities measured by modified method is 0.11 ± 0.06 μmoles/l.ConclusionsThe modified assay is reproducible and more sensitive than original assay and has been validated in several clinical studies.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251330176"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630066","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":"Sigma metrics for assessing the analytical performance of 14 biochemical analytes in Mansoura university children's hospital laboratories (MUCHLs) using CLIA LIMITS 1988 & 2024.","authors":"Nada Karam, Reham M El-Farahaty, Abdel-Hady El-Gilany, Nessma A Nosser","doi":"10.1177/00045632251330163","DOIUrl":"10.1177/00045632251330163","url":null,"abstract":"<p><p>IntroductionAnalytical quality is a crucial prerequisite for best practice in medical laboratory. Six-Sigma Methodology (SM) is a quality measurement tool used to evaluate laboratory performance. This study aims to assess the analytical phase baseline performance using SM and compare results using TEa of CLIA 1988 and CLIA 2024.Materials and methodsCoefficient of variation and bias were determined for 14 analytes. The sigma level for each parameter was calculated using total allowable error (TEa) for CLIA 1988 and CLIA 2024. The quality goal index ratio was calculated for analytes with Sigma less than 3. Normalized method decision Charts were plotted for level 1 and 2 Bio-Rad internal quality control for both CLIA 1988 and 2024.ResultsUsing CLIA TEa 1988, HDL-C, triglycerides & uric acid for level 1 and ALT, AST, HDL-C, calcium, triglycerides & uric acid for level 2 had six Sigma world class performance, meanwhile, only BUN for level 1 and 2 performed less than 3. Using CLIA TEa 2024, HDL-C, GGT, and triglycerides for level 1 and ALT, AST, calcium, GGT, and triglycerides for level 2 had world class quality performance. Meanwhile, creatinine, glucose, BUN for level 1 and BUN and creatinine for level 2 performed less than 3.ConclusionEvaluation of baseline analytical performance using SM revealed lower sigma values with stringent CLIA TEa 2024 versus tolerant CLIA TEa 1988. Improvement in the methodology of analytes with poor performance on some assay platforms with stringent quality control regimes is recommended.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251330163"},"PeriodicalIF":2.1,"publicationDate":"2025-03-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630089","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":"Elevated lactate dehydrogenase and reflexive myeloproliferative neoplasm molecular diagnostics.","authors":"Stephen E Langabeer","doi":"10.1177/00045632251324811","DOIUrl":"https://doi.org/10.1177/00045632251324811","url":null,"abstract":"","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251324811"},"PeriodicalIF":2.1,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143603713","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":"Preβ1-high-density lipoprotein binds to TG-rich lipoproteins and its release is impaired in the postprandial state among patients with poorly controlled type 2 diabetes.","authors":"Yuna Horiuchi, Satoshi Hirayama, Atsushi Hori, Yuri Ichikawa, Satoshi Soda, Utako Seino, Kazumasa Sekihara, Tsuyoshi Ueno, Yoshifumi Fukushima, Katsuo Kubono, Takashi Miida","doi":"10.1177/00045632251328154","DOIUrl":"10.1177/00045632251328154","url":null,"abstract":"<p><p>BackgroundAlthough preβ1-high-density lipoprotein (preβ1-HDL) promotes cholesterol efflux, high fasting preβ1-high-density lipoprotein levels after breakfast are reduced in patients with poorly controlled type 2 diabetes.ObjectiveThis study investigated whether preβ1-high-density lipoprotein binds to triglyceride (TG)-rich lipoproteins (TGRLs) in the postprandial state and is released during lipolysis.MethodsWe measured preβ1-high-density lipoprotein concentrations, lecithin-cholesterol acyltransferase (LCAT) activity, and LCAT-dependent preβ1-high-density lipoprotein conversion before and after breakfast in patients with diabetes. We also performed <i>in vitro</i> studies using TGRLs. Preβ1-high-density lipoprotein was quantified by enzyme-linked immunosorbent assay and native two-dimensional gradient gel (N-2D-gel) electrophoresis.ResultsBefore breakfast, the diabetes group had higher preβ1-high-density lipoprotein concentrations than the healthy controls; after breakfast, levels in the two groups were similar. Neither LCAT mass nor the LCAT-dependent preβ1-high-density lipoprotein conversion rate changed after breakfast. Mixing of fasting plasma with chylomicrons or very-low-density lipoprotein (VLDL) reduced the preβ1-high-density lipoprotein level by 15% ± 4% and 45% ± 10%, respectively. N-2D-gel electrophoresis showed that preβ1-high-density lipoprotein was generated by bacteria-derived TG lipase only from postprandial VLDL of patients with type 2 diabetes.ConclusionPreβ1-high-density lipoprotein binds to TGRLs in the postprandial state and is released during lipolysis, implying that postprandial hyperlipidemia impairs reverse cholesterol transport in patients with poorly controlled type 2 diabetes.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251328154"},"PeriodicalIF":2.1,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555640","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":"Metamizole (dipyrone) as an interferent in biochemical assays.","authors":"David Ceacero-Marín, Lídia Martínez-Zamorano, Adrían Gisbert-Alonso, Isabel Cachón-Suárez, Karla Gabriela Mendoza-Javier, María José Castro-Castro","doi":"10.1177/00045632251328131","DOIUrl":"10.1177/00045632251328131","url":null,"abstract":"<p><p>BackgroundMetamizole (MMZ), commonly used as an analgesic/antipyretic in countries like Spain, faces restrictions elsewhere due to side effects. Despite this, its frequent use underscores the critical importance of studying its impact on the accuracy of laboratory tests, particularly when blood samples are obtained shortly after intravenous administration.MethodsTo investigate the in vitro interfering effect of MMZ, 20 serum biochemical assays were selected. The concentrations of biochemical assays were measured in a serum pool spiked with increasing MMZ concentrations. For each assay, the percentage of interference was calculated and compared with our laboratory's quality requirements for bias.ResultsIn vitro interference was observed in some biochemical assays: cholesterol (CHOL), creatinine (CREA), high-density lipoprotein cholesterol (HDL), lactate (LAC), lactate dehydrogenase (LDH), triglycerides (TG) and uric acid (UA), leading to falsely reduced results. All of them, except for the LDH assay, exhibited clinically significant interference with CREA being the first to be affected at a metamizole concentration of 0.31 g/L. No interference was observed in the remaining assays.ConclusionsFalsely decreased and clinically significant CHOL, CREA, HDL, LAC, TG and UA results were observed in serum samples due to in vitro interference caused by MMZ contamination. Serum concentrations in patients receiving intravenous MMZ treatment may be falsely decreased due to interference by MMZ. Knowledge of such interferences in clinical laboratories is crucial for the correct diagnosis and treatment of patients.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251328131"},"PeriodicalIF":2.1,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555635","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":"Paired copy number variation analysis in siblings discordant for familial Parkinson's disease.","authors":"Sevcan Atay, Ahmet Acarer, Handan Ak, Zafer Colakoglu, Hikmet Hakan Aydin","doi":"10.1177/00045632251328130","DOIUrl":"10.1177/00045632251328130","url":null,"abstract":"<p><p>ObjectivesNumerous studies on the genetic pathogenesis of familial Parkinson's Disease (PD) have explained the etiology of only a limited percentage of cases. In this study, we aimed to identify copy number variations (CNVs) in patients with familial PD compared to their healthy siblings.MethodsGenomic microarray analysis was performed using the CytoScan HD array platform, and paired copy number variation analysis was performed using Partek Genomics Suite.ResultsA total of 211 CNVs were detected in patients (genomic markers per CNV >10, markers per base pair >0.0005). Genes localized in CNV regions were enriched in the \"<i>Metabolism of xenobiotics by cytochrome P450</i>\" pathway. Subsequently, CNVs located in regions with segmental duplication, large genomic gap or \"dosage sensitivity unlikely,\" with a frequency higher than 0.01%, and found to be \"both amplified and deleted\" in patients were excluded. Genes potentially affected by exonic copy number losses were HPGDS, TUBB8, ZMYND11, FLI-1, THADA, FAM47E, FAM47E-STBD1, AGMO, CYRIB, and MIR5194, while the detected copy number gains included the exons of the PCSK6, MIR4522, WSB1, C8orf44-SGK3, SGK3, and MCMDC2. No copy number variations were detected on chromosomes 13 and 18.ConclusionsHere, we report the results of the first paired CNV analysis in siblings discordant for Familial Parkinson's Disease. Validation and frequency determination of rare and novel CNVs identified in larger familial PD cohorts may reveal novel PD risk genes. The metabolism of xenobiotics by cytochrome P450 pathway deserves further functional and translational studies in familial Parkinson's disease.</p>","PeriodicalId":8005,"journal":{"name":"Annals of Clinical Biochemistry","volume":" ","pages":"45632251328130"},"PeriodicalIF":2.1,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143555637","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}