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Clinica chimica acta
Elsevier
Clinica chimica acta

Elsevier

0009-8981

Clinica chimica acta/Journal Clinica chimica actaSCIISTPIC
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    Evaluation and operationalization of commercial serum indices quality control material in the clinical laboratory

    Marzinke M.A.Mitchell S.Ness M.A.Tenney B.J....
    5页
    查看更多>>摘要：? 2021 The AuthorsBackground: Evaluation of specimen suitability for downstream analytical testing and identification of potential interferents in the clinical laboratory is critical for the generation of actionable clinical results. Within the clinical laboratory, hemolysis, icterus, and lipemia are commonly assessed spectrophotometrically. While clinical laboratories rely on analyte-specific quality control (QC) materials to monitor test or instrument performance, QC materials evaluating specimen integrity checks are infrequently implemented. Methods: Using commercially available specimen integrity materials, we evaluated the Bio-Rad Liquichek? Serum Indices product on Roche cobas? c701 analyzers at a large academic medical center. Target arbitrary values for the hemolysis, icterus, and lipemia QC materials were 200, 20, and 500, respectively. Means, standard deviations (SD), and coefficients of variation (%CV) were established for hemolysis, icterus, lipemia, and non-interfered QCs, and performance was monitored over a 60-day period. Results: Across four c701 instruments, all QC materials performed well, with %CVs ≤ 1.76%, 4.51%, and 3.46% for hemolysis, icterus, and lipemia QC, respectively. Conclusions: The Bio-Rad Liquichek Serum Indices product can serve as an effective means of monitoring specimen integrity checks in a manner congruous with existing QC programs.
      原文链接:
    • NSTL
    • Elsevier

    Breath analysis using electronic nose and gas chromatography-mass spectrometry: A pilot study on bronchial infections in bronchiectasis

    Oliveira L.F.D.Mallafre-Muro C.Giner J.Perea L....
    8页
    查看更多>>摘要：? 2021 The Author(s)Background and aims: In this work, breath samples from clinically stable bronchiectasis patients with and without bronchial infections by Pseudomonas Aeruginosa- PA) were collected and chemically analysed to determine if they have clinical value in the monitoring of these patients. Materials and methods: A cohort was recruited inviting bronchiectasis patients (25) and controls (9). Among the former group, 12 members were suffering PA infection. Breath samples were collected in Tedlar bags and analyzed by e-nose and Gas Chromatography-Mass Spectrometry (GC-MS). The obtained data were analyzed by chemometric methods to determine their discriminant power in regards to their health condition. Results were evaluated with blind samples. Results: Breath analysis by electronic nose successfully separated the three groups with an overall classification rate of 84% for the three-class classification problem. The best discrimination was obtained between control and bronchiectasis with PA infection samples 100% (CI95%: 84–100%) on external validation and the results were confirmed by permutation tests. The discrimination analysis by GC-MS provided good results but did not reach proper statistical significance after a permutation test. Conclusions: Breath sample analysis by electronic nose followed by proper predictive models successfully differentiated between control, Bronchiectasis and Bronchiectasis PA samples.
      原文链接:
    • NSTL
    • Elsevier

    A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism

    Ying Y.Ye J.Chen Y.Chen Q....
    7页
    查看更多>>摘要：? 2021Background: Clinical and genetic characteristics of ELANE mutation of a 3-year-old male who had a severe congenital neutropenia (SCN) were examined. We then investigated whether CRISPR/Cas9-mediated gene editing could correct the mutation. Procedure: The proband underwent extensive clinical assessments, such as exome sequencing and bioinformatics analysis, so that pathogenic genes could be identified. Sanger sequencing was also utilized for confirmation. The cell line, 293-ELANE, harboring ELANE mutation was generated, and the mutation was then corrected by CRISPR/Cas9-mediated homology-directed repair (HDR). Results: The ELANE gene test in the proband unveiled a heterozygous de novo missense mutation: c. 248T > A (p.V83D), which was not detected in his asymptomatic parents who had provided peripheral blood samples. We found that 46.01% of his father's sperm cells had the same mutation. These results demonstrate that the proband inherited the ELANE mutation from his father, who had an average neutrophil count but had a germline mosaicism. The highest repair efficiency of CRISPR/Cas9-mediated HDR for 293-ELANE is 4.43%. Conclusions: We identified a missense mutation (p.V83D) in ELANE that causes SCN. This is the first report on paternal semen mosaicism of an ELANE mutation. Our study paves the way for preimplantation genetic diagnosis (PGD) based on ELANE mutation prevention and clinical treatment of congenital disabilities.
      原文链接:
    • NSTL
    • Elsevier

    Answer to the letter of Lippi & Plebani entitled “Not all SARS-CoV-2 IgG and neutralizing antibody assays are created equal”

    Malipiero G.Villalta D.
    2页
      原文链接:
    • NSTL
    • Elsevier

    Value of urine/serum Neutrophil gelatinase-associated lipocalin ratio in distinguishing acute kidney injury from chronic kidney disease

    Huang Z.Wu L.Zeng M.Wu B....
    7页
    查看更多>>摘要：? 2021Objective: This study was performed to test the hypothesis that neutrophil gelatinase-associated lipocalin (NGAL) as a biomarker would be helpful for differentiation acute kidney injury (AKI) from chronic kidney disease (CKD) in kidney malfunction patients from the nephrology department. Methods: This retrospective study included 355 patients admitted from the nephrology department with modification of diet in renal disease estimated glomerular filtration rate (MDRD eGFR) < 60 ml/min/1.73 m2. The subjects were categorized into AKI group (n = 204) and CKD group (n = 151). A propensity-matched analysis, incorporating 17 variables, was performed to control potential selection bias. Results: Urinary NGAL (uNGAL) level in the AKI group was higher than in the CKD group (372.10 (170.10–690.63) vs 88.10 (52.00–238.80), P < 0.001), but there was no significant difference in serum NGAL (sNGAL). Both sNGAL and uNGAL had a correlation with MDRD eGFR in total patients, AKI patients, and CKD patients. The propensity-matched analysis enrolled 75 patients in each group. In matched AKI group, sNGAL was lower (401.20 (239.10–616.00) vs 468.50 (305.00–709.40), P = 0.049) and uNGAL was elevated (284.00 (136.90–690.90) vs 203.70 (69.20–596.00), P = 0.032), compared with the matched CKD group. In all patients (n = 355), the ratio of uNGAL and sNGAL (u/s NGAL), fractional excretion of NGAL (Fe NGAL) discriminated AKI from CKD (area under the curve, 0.803 and 0.790, respectively). After stratified kidney function, the sub-analyses found that u/s NGAL and Fe NGAL were shown to differ substantially between the AKI group and CKD group (all P < 0.01). The u/s NGAL ratio always had the highest AUC area in the sub-analyses. Conclusions: u/s NGAL might be helpful to discriminate AKI from CKD in kidney malfunction patients admitted to the nephrology department. Further confirmatory studies might be warranted.
      原文链接:
    • NSTL
    • Elsevier

    Evaluation of lipid metabolism imbalance in HIV-infected patients with metabolic disorders using high-performance liquid chromatography-tandem mass spectrometry

    Zhang J.Jin H.-L.Jian F.-B.Feng S.-L....
    13页
    查看更多>>摘要：? 2021 The AuthorsHuman immunodeficiency virus (HIV) infection and highly active antiretroviral therapy use are associated with the disruption of lipid and glucose metabolism. Herein, a sensitive and robust high-performance liquid chromatography–tandem mass spectrometry method for the quantitation of lysophosphatidylcholines (LPCs) and acylcarnitines (ACs) in human blood serum was developed and validated to investigate them as markers of metabolic disorders in HIV-infected patients. Under optimal extraction and detection conditions, the lower limits of quantification reached 5 ng/mL (LPCs) and 0.1 ng/mL (ACs), and precision and accuracy for both intra- and inter-day analyses were generally below 15%. Serum samples were stable for at least six months when stored at ? 80 °C and for at least 12 h when stored at 4 °C or 25 °C. We investigated inter-group differences and associations between the biomarkers and observed a particular volatility trend of LPCs and ACs for HIV-infected patients with metabolic disorders. Thus, the developed method can be used for the rapid and sensitive quantitation of LPCs and ACs in vivo to further appraise the process of HIV infection, evaluate intervening measures, conduct mechanistic investigations, and further study the utility of LPCs and ACs as biomarkers of HIV infection coupled with metabolic disorders.
      原文链接:
    • NSTL
    • Elsevier

    Lean adolescents with insulin resistance display higher angiopoietin like protein 3, ApoC-III and chylomicron remnant dyslipidemia

    Paola Gutierrez Castro K.Patricia Gonzalez A.Caccavello R.Garay-Sevilla M.E....
    6页
    查看更多>>摘要：? 2021 Elsevier B.V.Background: Triglyceride-rich lipoproteins (TRL: chylomicrons and VLDL) are a key component of diabetes dyslipoproteinemia and cardiovascular risk. We have shown that it is already prevalent in obese adolescents in association with lipoprotein lipase (LPL) dysregulation. Insulin resistance (IR) suffices to produce TRL dyslipoproteinemia and LPL dysfunction even in the absence of obesity. Methods: This cross-sectional study included euglycemic adolescents between 15 and 19 y, classified in 4 groups according to BMI, HOMA-IR and fasting lipid as: metabolically healthy lean (MHL, n = 30), metabolically unhealthy lean (MUL, n = 25), metabolically healthy obese (MHO, = 30), and metabolically unhealthy obese (MUO, n = 42). Results: As compared to MHL, MUL participants showed 73% higher concentrations of ApoB-48; 84% of ApoC-III; 24% ANGPTL-3; 200% of TG; 218% of VLDL-C and 238% of TG/HDL-C c, No changes were found in LPL mass. Interestingly, the differences in these parameters between MUL and MHO were not significant. Conclusion: Euglycemic lean adolescents with IR display TRL dyslipoproteinemia with increased inhibition of LPL as highlighted by higher concentrations of ANGPTL-3, ApoC-III and fasting chylomicron remnants (ApoB-48).
      原文链接:
    • NSTL
    • Elsevier

    Vasostatin-1 as a potential novel circulating biomarker in patients with chronic systolic heart failure: A pilot study

    Pinto G.Colombo B.Autieri A.Foppoli L....
    6页
    查看更多>>摘要：? 2021Background and aims: Previous studies have shown that circulating chromogranin A (CgA) increases in patients with chronic systolic heart failure (HF). Aim of the present study is to evaluate the potential role of circulating vasostatin-1 (VS-1), a cardioregulatory fragment of CgA, as prognostic marker in patients with chronic HF. Materials and methods: The plasma levels of CgA and VS-1 were determined in 80 patients with chronic systolic HF. Patients were followed-up to evaluate the occurrence of cardiovascular (CV) events. Results: CgA and VS-1 plasma levels were significantly higher in patients with CV events at follow-up. VS-1, but not CgA, was associated to NT-proBNP. No significant association of CgA and VS-1 with left ventricular ejection fraction (LVEF) was observed. CgA, NT-proBNP and age, but not VS-1, were independent predictors of CV events. Conclusion: In patients with chronic systolic HF those who experienced CV events had higher levels of VS-1 and CgA. Given its established effect on cardiac cells, the association of VS-1 levels with NT-proBNP levels but not with LVEF, suggests that this fragment might provide complementary information to NT-proBNP and CgA in HF patients.
      原文链接:
    • NSTL
    • Elsevier

    Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency

    Choi Y.Oh A.Lee Y.Kim G.-H....
    7页
    查看更多>>摘要：? 2021 Elsevier B.V.Purpose: Carbamoyl phosphate synthetase 1 (CPS1) deficiency affects the first step of urea cycle and is a severe form of urea cycle disorder (UCD). The severity of hyperammonemic encephalopathy determines the clinical course of UCDs. Here, we describe the genetic and clinical characteristics of CPS1 deficiency in Korea. Patient and methods: This study included seven patients with CPS1 deficiency genetically confirmed from January 1992 to September 2020. The peak ammonia level during the first crisis, the half time of peak ammonia level, the initial plasma amino acid levels, and neurological outcomes were compared between CPS1 deficiency and two common UCDs (i.e., 17 patients with argininosuccinate synthetase 1 deficiency and 24 patients with ornithine transcarbamylase deficiency). Result: Eleven CPS1 mutations were identified, including 10 novel mutations. Eight mutations were missense. Six patients with CPS1 deficiency had neonatal type. The peak ammonia level, initial glutamate level, and accompanying rate of irreversible neurological damages were highest in patients with CPS1 deficiency. The patient with late-onset CPS1 deficiency responded dramatically to N-carbamylglutamate treatment. Conclusion: The clinical manifestations of CPS1 deficiency were the most severe among UCDs. Considering the high proportion of missense mutations, responsiveness to N-carbamylglutamate would be evaluated in a future study.
      原文链接:
    • NSTL
    • Elsevier

    The ALT upper reference interval debate: Blame it on the alcohol

    Vera M.A.Koch C.D.Liapakis A.Lim J.K....
    4页
    查看更多>>摘要：? 2021 Elsevier B.V.Background: In 2017, the American College of Gastroenterology (ACG) and the North American Society of Pediatric Gastroenterology, Hepatology and Nutrition published clinical guidelines recommending the use of alanine aminotransferase (ALT) upper reference limits (URL) of 33, 25, 26, and 22 U/l for men, women, boys, and girls, respectively. This was opposed by laboratory experts who advocated for the use of higher URL of 59, 41, 33, and 24 U/l instead. We suspected that the variable inclusion of individuals who consumed alcohol to be a major contributing source of URL variability and debate. Methods: Outpatient ALT data (n = 7379) were collected from unique individuals ≥13 y with BMIs of ≥19 and ≤25. A total of 222 (3%) were excluded due to suspected liver disease. Patients were split into a pediatric group (age 13–17 y), an alcohol-restricted adult group (age 18–20 y), and adults with access to alcohol by decade (i.e., age 21–29, 30–39, 40–49, 50–59, 60–69, 70–79, and ≥ 80 y). All ALT values were measured on Roche Cobas 8000 with pyridoxal phosphate and traceable to the IFCC-reference measurement procedure. Results: We derived URL similar to CALIPER for our pediatric population, but closer to ACG-proposed URL in our alcohol-restricted adult group. The URL increased significantly in men and women for all other age groups. Conclusions: The discrepancy in ALT URL in clinical laboratories may be attributable in part due to the variable inclusion of individuals who recently consumed alcohol in local population derivation studies.
      原文链接:
    • NSTL
    • Elsevier