Clinical biochemistry最新文献

{"title":"Significance of SDC2 and NDRG4 methylation in stool for colorectal cancer diagnosis","authors":"Lu Long ,&nbsp;Qian Sun ,&nbsp;Fang Yang ,&nbsp;Hui Zhou ,&nbsp;Yu Wang ,&nbsp;Changhe Xiao ,&nbsp;Qing He ,&nbsp;Bin Yi","doi":"10.1016/j.clinbiochem.2024.110717","DOIUrl":"10.1016/j.clinbiochem.2024.110717","url":null,"abstract":"<div><h3>Background</h3><p>Recent studies have identified methylated SDC2 and NDRG4 in colorectal cancer (CRC), however, the diagnostic value of the combined two genes remains undefined. This study aims to investigate the methylation of SDC2 and NDRG4 in stool samples and their application in diagnosis of CRC.</p></div><div><h3>Methods</h3><p>Five groups were enrolled in our study which consisted of CRC (n = 138), advanced adenomas (n = 27), polyp (n = 35), intestinal disease control (n = 150), and healthy individuals (n = 28). Methylation status of SDC2 and NDRG4 in fecal samples were tested with appropriate commercial kits. Primary data were collected and statistical analyses were performed.</p></div><div><h3>Results</h3><p>The positive rates of both SDC2 and NDRG4 methylation in stool samples of CRC group were significantly higher (<em>P</em> &lt; 0.001) than those of either group of advanced adenomas, or polyp, or intestinal disease or the healthy control. It was suggested that both methylated SDC2,NDRG4, SDC2/NDRG4 and age were independent risk factors for CRC. The sensitivity of SDC2 and NDRG4 for CRC diagnosis were 73.9 % and 63.0 %, respectively, while SDC2 combined with NDRG4 had a higher sensitivity of 85.5 %. The specificity of SDC2, NDRG4 and SDC2 combined with NDRG4 achieved 91.6 %, 88.3 % and 84.6 %, respectively. The AUC for methylated SDC2 and NDRG4 were 0.828 (95 % CI: 0.780–0.876) and 0.757 (95 % CI: 0.703–0.811), respectively. In contrast, SDC2 combined with NDRG4 improved the AUC to 0.850 (95 % CI: 0.807–0.893).</p></div><div><h3>Conclusions</h3><p>This research confirmed the significance of detection of SDC2 and NDRG4 methylation by using noninvasive samples of stool. More importantly, attributing to their high level and frequency of methylation in stool, SDC2 and NDRG4 could be promising biomarkers for stool-based method for screening and early diagnosis of CRC, especially when combined.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"124 ","pages":"Article 110717"},"PeriodicalIF":2.8,"publicationDate":"2024-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0009912024000110/pdfft?md5=1b9724b74e5c96d11eb15593ad193fb8&pid=1-s2.0-S0009912024000110-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139458736","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}

{"title":"Integrating patient-based quality control and patient-based quality assurance","authors":"Tony Badrick ,&nbsp;Tze Ping Loh","doi":"10.1016/j.clinbiochem.2024.110708","DOIUrl":"10.1016/j.clinbiochem.2024.110708","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"124 ","pages":"Article 110708"},"PeriodicalIF":2.8,"publicationDate":"2024-01-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139432419","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":"Atorvastatin-associated myotoxicity: A toxicokinetic review of pharmacogenetic associations to evaluate the feasibility of precision pharmacotherapy","authors":"Emilia Hoste ,&nbsp;Vincent Haufroid ,&nbsp;Louise Deldicque ,&nbsp;Jean-Luc Balligand ,&nbsp;Laure Elens","doi":"10.1016/j.clinbiochem.2024.110707","DOIUrl":"10.1016/j.clinbiochem.2024.110707","url":null,"abstract":"<div><p>Atorvastatin (ATV) and other statins are highly effective in reducing cholesterol levels. However, in some patients, the development of drug-associated muscle side effects remains an issue as it compromises the adherence to treatment. Since the toxicity is dose-dependent, exploring factors modulating pharmacokinetics (PK) appears fundamental. The purpose of this review aims at reporting the current state of knowledge about the singular genetic susceptibilities influencing the risk of developing ATV muscle adverse events through PK modulations. Multiple single nucleotide polymorphisms (SNP) in efflux (<em>ABCB1</em>, <em>ABCC1</em>, <em>ABCC2</em>, <em>ABCC4</em> and <em>ABCG2</em>) and influx (<em>SLCO1B1</em>, <em>SLCO1B3</em> and <em>SLCO2B1</em>) transporters have been explored for their association with ATV PK modulation or with statin-related myotoxicities (SRM) development. The most convincing pharmacogenetic association with ATV remains the influence of the rs4149056 (c.521 T &gt; C) in <em>SLCO1B1</em> on ATV PK and pharmacodynamics. This SNP has been robustly associated with increased ATV systemic exposure and consequently, an increased risk of SRM. Additionally, the SNP rs2231142 (c.421C &gt; A) in <em>ABCG2</em> has also been associated with increased drug exposure and higher risk of SRM occurrence. <em>SLCO1B1</em> and <em>ABCG2</em> pharmacogenetic associations highlight that modulation of ATV systemic exposure is important to explain the risk of developing SRM. However, some novel observations credit the hypothesis that additional genes (e.g. <em>SLCO2B1</em> or <em>ABCC1</em>) might be important for explaining local PK modulations within the muscle tissue, indicating that studying the local PK directly at the skeletal muscle level might pave the way for additional understanding.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"124 ","pages":"Article 110707"},"PeriodicalIF":2.8,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139103319","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":"Rapid and simple quantification of belimumab in human plasma using ultra-high performance liquid chromatography with tandem mass spectrometry","authors":"Chisato Yoshijima ,&nbsp;Yosuke Suzuki ,&nbsp;Ryota Tanaka ,&nbsp;Hiroyuki Ono ,&nbsp;Ayako Oda ,&nbsp;Takashi Ozaki ,&nbsp;Hirotaka Shibata ,&nbsp;Hiroki Itoh ,&nbsp;Keiko Ohno","doi":"10.1016/j.clinbiochem.2023.110706","DOIUrl":"10.1016/j.clinbiochem.2023.110706","url":null,"abstract":"<div><h3>Objective</h3><p>Belimumab is a monoclonal antibody against the B-lymphocyte stimulating factor and is approved for the treatment of patients with systemic lupus erythematosus (SLE) not responding adequately to existing therapies. In this study, we established and validated an assay for quantifying belimumab in human plasma.</p></div><div><h3>Methods</h3><p>From the peptides generated by trypsin digestion of belimumab, <em>in silico</em> analysis was used to search for unique peptides to determine the surrogate peptides. Samples were trypsin digested, pretreated with solid phase extraction, and analyzed by ultra-high performance liquid chromatography with tandem mass spectrometry (UHPLC-MS/MS) to quantify the surrogate peptide in the samples. The assay was validated according to the Food and Drug Administration (FDA) bioanalytical method validation guidance. We used the established assay to quantify plasma belimumab concentrations in two SLE patients treated with belimumab.</p></div><div><h3>Results</h3><p>Among the unique peptides identified by the <em>in silico</em> analysis, the peptide with the best peak shape when measured by UHPLC-MS/MS was selected as the surrogate peptide. The validation results of this assay met the acceptable criteria recommended by the FDA guidance. The lower limit of quantification (LLOQ) for belimumab was 2 µg/mL. Recovery rates and matrix effects when corrected for internal standards were 91.5–114.3 % and 96.9–108.4 %, respectively. Plasma concentrations of belimumab were measured in 12 samples from two belimumab-treated SLE patients. All concentrations were within the calibration range.</p></div><div><h3>Conclusions</h3><p>We have established and validated a method for measuring plasma belimumab concentrations using UHPLC/MS-MS. By measuring plasma belimumab concentrations in more patients, this method is expected to contribute to appropriate use of belimumab.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"124 ","pages":"Article 110706"},"PeriodicalIF":2.8,"publicationDate":"2024-01-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139093746","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":"Expression profile of microRNAs in patients with decompensated cirrhosis by small RNA deep sequencing","authors":"Li Zhang ,&nbsp;Xiang Dong ,&nbsp;Yuling Zhan ,&nbsp;Shasha Ma ,&nbsp;Chuanmiao Liu ,&nbsp;Yu Gao","doi":"10.1016/j.clinbiochem.2023.110705","DOIUrl":"10.1016/j.clinbiochem.2023.110705","url":null,"abstract":"<div><h3>Introduction and objective</h3><p>Decompensated cirrhosis (DCC) is a more advanced stage of liver cirrhosis (LC). It is important to identify biomarkers to predict DCC progression. The aim of this study was to analyze microRNA (miRNA) profiles of whole blood involved in the DCC process to gain a better understanding of the molecular mechanisms underlying its development.</p></div><div><h3>Materials and methods</h3><p>RNA-Seq analysis of blood samples from a discovery set, including four DCC patients and four LC individuals, was performed to identify differentially expressed miRNAs. The selected differentially expressed miRNAs were validated by using an independent validation set.</p></div><div><h3>Results</h3><p>In this study, a total of 1,036 miRNAs were identified in whole blood samples. Forty differentially expressed miRNAs were identified, including 24 upregulated and 16 downregulated miRNAs. The expression levels of three upregulated miRNAs (hsa-miR-20b-5p, hsa-miR-421, and hsa-miR-1307-3p) and two downregulated miRNAs (hsa-miR-139-5p and hsa-miR-150-5p) were validated by quantitative reverse transcriptase polymerase chain reaction. The receiver operator characteristic curve for the logistic regression model based on hsa-miR-20b-5p, hsa-miR-421, and hsa-miR-150-5p could distinguish DCC patients with excellent diagnostic accuracy (area under the curve: 0.981, p &lt; 0.01).</p></div><div><h3>Conclusion</h3><p>The miRNA expression profiles in patients with DCC and LC controls suggested that miR-20b-5p, miR-421, and miR-150-5p could be potential biomarkers and therapeutic targets for this condition.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110705"},"PeriodicalIF":2.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S0009912023002333/pdfft?md5=32093472cd6f064044632bb04d937135&pid=1-s2.0-S0009912023002333-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139062082","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}

{"title":"Elevated urine norepinephrine levels and alcohol use: A relationship that should be not neglected","authors":"Jari Intra,&nbsp;Silvia Ippolito,&nbsp;Franco Lorenzini,&nbsp;Antonio Mauro,&nbsp;Maria Concetta Mazzitello,&nbsp;Stefano Melzi,&nbsp;Adele Cappellani,&nbsp;Fabrizio Cappellini,&nbsp;Marco Casati","doi":"10.1016/j.clinbiochem.2023.110704","DOIUrl":"10.1016/j.clinbiochem.2023.110704","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110704"},"PeriodicalIF":2.8,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139051997","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":"A systematic review of metabolomic findings in adult and pediatric renal disease","authors":"Lennart Moritz ,&nbsp;Anke Schumann ,&nbsp;Martin Pohl ,&nbsp;Anna Köttgen ,&nbsp;Luciana Hannibal ,&nbsp;Ute Spiekerkoetter","doi":"10.1016/j.clinbiochem.2023.110703","DOIUrl":"10.1016/j.clinbiochem.2023.110703","url":null,"abstract":"<div><p>Chronic kidney disease (CKD) affects over 0.5 billion people worldwide across their lifetimes. Despite a growingly ageing world population, an increase in all-age prevalence of kidney disease persists. Adult-onset forms of kidney disease often result from lifestyle-modifiable metabolic illnesses such as type 2 diabetes. Pediatric and adolescent forms of renal disease are primarily caused by morphological abnormalities of the kidney, as well as immunological, infectious and inherited metabolic disorders. Alterations in energy metabolism are observed in CKD of varying causes, albeit the molecular mechanisms underlying pathology are unclear. A systematic indexing of metabolites identified in plasma and urine of patients with kidney disease alongside disease enrichment analysis uncovered inborn errors of metabolism as a framework that links features of adult and pediatric kidney disease. The relationship of genetics and metabolism in kidney disease could be classified into three distinct landscapes: (i) Normal genotypes that develop renal damage because of lifestyle and / or comorbidities; (ii) Heterozygous genetic variants and polymorphisms that result in unique metabotypes that may predispose to the development of kidney disease via synergistic heterozygosity, and (iii) Homozygous genetic variants that cause renal impairment by perturbing metabolism, as found in children with monogenic inborn errors of metabolism. Interest in the identification of early biomarkers of onset and progression of CKD has grown steadily in the last years, though it has not translated into clinical routine yet. This systematic review indexes findings of differential concentration of metabolites and energy pathway dysregulation in kidney disease and appraises their potential use as biomarkers.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110703"},"PeriodicalIF":2.8,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138575455","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":"A verification and implementation plan for 50 blood gas analyzers across a large geographic area","authors":"Yury Butorin,&nbsp;Isolde Seiden-Long,&nbsp;Lawrence de Koning","doi":"10.1016/j.clinbiochem.2023.110702","DOIUrl":"10.1016/j.clinbiochem.2023.110702","url":null,"abstract":"","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110702"},"PeriodicalIF":2.8,"publicationDate":"2023-12-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138527118","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":"Development of a second-tier method for C4, C5 and C2 acylcarnitine analysis in plasma","authors":"Josko Ivica ,&nbsp;Faisal Adam ,&nbsp;Lyse Wortel ,&nbsp;Teresa Kalika ,&nbsp;Heather Pelly ,&nbsp;Jeannette Gauthier ,&nbsp;Murray Potter","doi":"10.1016/j.clinbiochem.2023.110698","DOIUrl":"10.1016/j.clinbiochem.2023.110698","url":null,"abstract":"<div><h3>Introduction</h3><p><span>Acylcarnitines are typically analyzed using either a </span>flow injection analysis (FIA) method or liquid chromatography-mass spectrometry (LC-MS/MS) methods. The FIA method is a fast, efficient method, however it does not have the capability to separate compounds with the same molecular weight. These isobaric interferences can be removed by chromatographic separation with LC-MS/MS. In this study, we aimed to develop and optimize a qualitative LC-MS/MS method to separate the isobaric interferences for two-, four- and five-carbon acylcarnitines.</p></div><div><h3>Methods</h3><p>The samples were first prepared by acylcarnitine derivatization<span> with butanolic HCl. The developed LC-MS/MS method is a combination of isocratic and gradient elution<span> used to separate acylcarnitines. Multiple reaction monitoring was used for determination of precursor and product ions for each acylcarnitine species as well as known interferences used in our study. We used this method to analyze quality assurance and patient samples with elevated two-, four- and five-carbon acylcarnitines.</span></span></p></div><div><h3>Results</h3><p><span><span><span>Butyryl- and isobutyrylcarnitines as well as valeryl- and isovalerylcarnitines were successfully separated using the developed method. This method was able also to separate and distinguish acetylcarnitine from </span>glutamate interference that has been causing overestimation of acetylcarnitine. </span>In patients, the dominant five-carbon acylcarnitine was found to be isovalerylcarnitine. We confirmed that the majority of analyzed patient samples had additional </span>carnitine adducts present but not valerylcarnitine. Butyryl- and isobutyrylcarnitines, in variable ratios, were present in every patient sample.</p></div><div><h3>Conclusion</h3><p>We developed a qualitative LC-MS/MS method for butyl-ester derivatized acylcarnitines, which can be used as a second-tier method for diagnosis and monitoring of various inborn errors of metabolism in our hospital network.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110698"},"PeriodicalIF":2.8,"publicationDate":"2023-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138482015","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":"Serum human epididymis protein 4 is associated with disease severity in patients with IgA nephropathy","authors":"Hou-Long Luo ,&nbsp;Chen He ,&nbsp;Hao Xue ,&nbsp;Mingyang Li ,&nbsp;Ling Ji ,&nbsp;Yong Xia","doi":"10.1016/j.clinbiochem.2023.110701","DOIUrl":"10.1016/j.clinbiochem.2023.110701","url":null,"abstract":"<div><h3>Background</h3><p>Human epididymis protein 4 (HE4) is a promising tumor biomarker primarily utilized for the detection of ovarian cancer. However, its potential as a novel diagnostic indicator for immunoglobulin A nephropathy (IgAN) remains unknown. The objective of this study was to investigate the feasibility of serum HE4 as a novel biomarker for patients with IgAN.</p></div><div><h3>Methods</h3><p>This study enrolled a total of 89 hospitalized patients with IgAN at Peking University Shenzhen Hospital between July 2020 and December 2022, along with 60 healthy control subjects matched for sex and age without evidence of comorbidities. Serum HE4 levels were measured using the Abbott Alinity automated immune analyzer, and the correlation between serum HE4 levels and biochemical markers of renal damage as well as clinicopathologic features in IgAN patients were analyzed.</p></div><div><h3>Results</h3><p>In this study, serum HE4 levels were significantly elevated in patients with IgAN compared to healthy controls (116.43 ± 103.61 pmol/L vs. 35.57 ± 9.33 pmol/L, p &lt; 0.001). There was a positive correlation between serum HE4 levels and blood urea nitrogen (r = 0.58, p &lt; 0.001), creatinine (r = 0.73, p &lt; 0.001), cystatin C (r = 0.82, p &lt; 0.001), β2-microglobulin (r = 0.77, p &lt; 0.001), α1-microglobulin (r = 0.75, p &lt; 0.001), and glomerulosclerosis ratio (r = 0.56, p &lt; 0.001). Conversely, a negative correlation was observed between serum HE4 levels and hemoglobin (r = -0.42, p &lt; 0.001), albumin (r = -0.44, p &lt; 0.001) and estimated glomerular filtration rate (eGFR) (r = -0.83, p &lt; 0.001). In HE4+ IgAN patients, a higher glomerulosclerosis ratio (p &lt; 0.01) and lower eGFR levels (p &lt; 0.001) were observed compared to HE4- patients. Furthermore, patients with higher pathological classification grade also had higher serum HE4 levels.</p></div><div><h3>Conclusions</h3><p>Serum HE4 levels were significantly associated with both renal function and the pathological classification of patients with IgAN, indicating that HE4 may serve as a promising biomarker for assessing the severity of IgAN.</p></div>","PeriodicalId":10172,"journal":{"name":"Clinical biochemistry","volume":"123 ","pages":"Article 110701"},"PeriodicalIF":2.8,"publicationDate":"2023-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138482016","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}