Biochemia medica最新文献

TriNetX, a rapidly growing global network of anonymized patient data, enables clinical researchers to perform large-scale retrospective cohort studies. However, its functionality for querying laboratory data outcomes is significantly constrained, as it only provides the results of the most recent test within a specified observation period. Consequently, the platform is not optimized for analyzing laboratory data collected at multiple time points during an observation period. This paper introduces innovative, data-informed solutions to address these limitations, offering practical guidance for researchers aiming to leverage TriNetX for examining clinical laboratory data.

Introduction: Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease affecting exocrine glands and is frequently accompanied by depression and anxiety. Proinflammatory cytokines, particularly interleukin 6 (IL-6), have been implicated in the pathogenesis of both pSS and mood disorders. This study aimed to assess the association between inflammatory markers, disease activity, and psychological symptoms in patients with pSS.

Materials and methods: A cross-sectional study was conducted on 60 female patients diagnosed with pSS at Sestre milosrdnice University Hospital Center between 2019 and 2021. Depression and anxiety were evaluated using the Hospital Anxiety and Depression Scale. Inflammatory biomarkers (erythrocyte sedimentation rate, rheumatoid factor, ferritin, fibrinogen, CRP, C3, C4, IL-6) and disease activity indices (ESSDAI, ESSPRI) were analyzed. Statistical analyses, including logistic regression, were applied to determine independent predictors of depression and anxiety.

Results: Depression was detected in 39/60 of patients, while 34/60 exhibited anxiety symptoms. Patients with either depression or anxiety had significantly higher IL-6 concentration (P < 0.001 and P = 0.002, respectively). Logistic regression identified IL-6 as an independent predictor of depression (OR = 3.23, 95%CI: 1.07 - 9.80, P = 0.038), while ESSPRI fatigue was a significant predictor of anxiety (OR = 2.01, 95%CI: 1.13 - 3.58, P = 0.018).

Conclusions: The findings suggest that IL-6 could be a predictor of pSS-related depression, potentially serving as a biomarker for this extraglandular manifestation and ESSPRI fatigue as a predictor for anxiety.

This study aimed to investigate potential benefit of personalized reference intervals (prRIs) by conducting a four-month observation of a woman with SARS-CoV-2 reinfection. Two types of prRIs were calculated: one derived from the population biological variation (BV) data provided by the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM) biological variation database (prRIs__pop.), and the other derived from individual variation data (prRIs__ind.). These were subsequently compared. A total of 110 test results encompassing complete blood count (CBC) and leukocyte differential counts from the case were assessed according to the limits of prRIs__pop., reference change values (RCVs__pop.) and the population-based reference intervals (popRIs). In instances where limited historical health data are available (N ≤ 3), the application of prRIs__pop. was recommended over prRIs__ind. The prRIs__pop. and RCVs__pop. identified a greater number of potential clinical pathological change compared to popRIs (the ratio of potential abnormal values to total test values: prRIs__pop. 22/110, RCVs__pop. 25/110, popRIs 2/110, respectively). The findings suggest that the use of prRIs can be advantageous in clinical settings and is worthy of broader adoption. However, it is essential to choose an appropriate calculation method tailored to the specific clinical context.

The study aims to present a case study of a patient with supratherapeutic serum gentamicin concentration. An 83-year-old male was admitted to the Department of Internal Medicine for persistent loss of appetite, decompensated heart failure, and pneumonia. He was treated with 240 mg gentamicin daily alongside ampicillin/sulbactam penicillin antibiotic. The trough gentamicin concentrations and estimated glomerular filtration rate from creatinine (eGFRcrea) and cystatin C (eGFRcys) were performed. The patient had the supratherapeutic trough gentamicin concentration of 2.5 mg/L. eGFRcrea was 62 mL/min/1.73m² and eGFRcys was 25 mL/min/1.73m². The difference between eGFRcrea and eGFRcys was 148%. Falsely high eGFRcrea in elderly patient led to the supratherapeutic gentamicin concentration even after the standard 240 mg gentamicin dose.

The alcohol dehydrogenase (ADH) method is commonly used to measure serum alcohol concentration (SAC) and plasma alcohol concentration (PAC) for the rapid detection of ethanol intoxication in emergency medical departments. Alcohol dehydrogenase methods are sometimes used in forensic laboratories as a preliminary screening test prior to confirmation by gas chromatographic (GC) methods. This review identifies critical factors affecting results of ADH methods of analysis including clinical reliability and forensic defensibility. Key considerations include intra-analytical factors (method chemistry, calibration, analytical performance, interferences, calibrator stability, and sample matrix effects) and post-analytical factors (measurement units, reference ranges, performance specifications, uncertainty budget, medical decision levels, legal intoxication thresholds, ADH-GC agreement, and SAC/PAC to blood alcohol concentration (BAC) conversion). The yeast ADH method demonstrates high selectivity for ethanol with no assay-specific bias, and measurement error and uncertainty meet regulatory standards. However, ADH methods are prone to interferences, particularly from lactate dehydrogenase/lactic acid (LD/LA), leading to potential false positive results. Free hemoglobin (hemolysis) is another problem with ADH methods introducing a negative bias. When results provided by hospital laboratories are interpreted in a legal context, care is needed because ethanol concentrations in plasma/serum are about 15% higher than in whole blood (range 10-20%). Although less important in clinical practice, these differences are important to consider in a forensic context. The ADH method is not inherently a forensic assay, but these limitations can be mitigated by refining laboratory procedures and standardizing the assay methodology and quality control, thus strengthening forensic reliability and boosting confidence in the analytical results.

Introduction: The ISO 15189:2022 standard considers both the robustness of analytical methods and the risk of erroneous results in the quality control plan (QCP) design. Westgard et al.'s nomogram recommends quality control (QC) rules based on sample run size to ensure that the maximum expected number of unreliable patient results remains below one. This study aimed to implement a standardized, risk-based QC strategy across multiple analyzers without integrated on board QC, ensuring practical quality assurance.

Material and methods: Thirty-two biochemistry parameters on Alinity c systems and three on Cobas Pro systems were included. The analytical performance of each parameter on each analyzer was assessed using sigma metric. Workload requirements were considered to determine the desired run size. Based on the "sigma metric statistical QC run size nomogram" proposed by Westgard et al., a multistage bracketed QCP was designed for each parameter. When multiple designs were available, the simplest QC rule was prioritized.

Results: Seven QCPs were initially established for 35 parameters. In the absence of automation, practical adaptations based on sigma metrics were implemented. Additionally, to streamline management, the QCP covering the greatest number of parameters per analyzer was prioritized, which ultimately resulted in the adoption of only two general QCP. Only 4 individualized QCP were required to cover 10 parameters with lower sigma values.

Conclusions: This approach demonstrates the feasibility of implementing a refined QC strategy for parameters with sigma ≥ 4 in a highly automated laboratory, ensuring consistent quality assurance and efficient resource allocation for higher-risk tests.

Introduction: High-density lipoprotein (HDL) particles are key participants in reverse cholesterol transport. Cholesterol efflux capacity (CEC) and apolipoprotein A1 (Apo A1) are HDL-related biomarkers often used to evaluate HDL particle functionality and quantity. This study aimed to assess the correlation between CEC and Apo A1 concentrations and explore whether methodological aspects influence the correlation results.

Materials and methods: This meta-analysis was prospectively registered in the PROSPERO database (registration number CRD42024552535). Three databases, PubMed, Web of Science, and Cochrane Library, were screened for the studies published between January 2000 and May 2024. The correlation results were analyzed using a random-effects model, and sensitivity and subgroup analyses were performed.

Results: A total of 19 studies with 4967 participants were included. This meta-analysis's results indicated a statistically significant positive moderate strength correlation between CEC and Apo A1 concentrations. A high level of study heterogeneity was observed among the included studies. Further exploration into this heterogeneity revealed that different cell culture lines and cholesterol acceptors used to evaluate CEC impact the overall result of the pooled correlation estimate. The methods used to evaluate Apo A1 did not significantly affect the correlation estimate between CEC and Apo A1 concentrations.

Conclusions: The correlation between CEC and Apo A1 lacks strength and consistency for Apo A1 being used as a surrogate marker for HDL function in a clinical setting. Currently, there is a high need for the standardization of CEC measurement methodologies that impact the overall results and comparability of the studies that have already been conducted.

Spurious elevations in intact parathyroid hormone (iPTH) can lead to unnecessary interventions. We describe a dialysis patient who developed unexpectedly high iPTH concentrations months after total parathyroidectomy with forearm autotransplantation (TPTX-AT). Blood samples had been collected from the grafted forearm, resulting in falsely elevated iPTH values. Once the sample was collected from the non-grafted arm, iPTH concentrations normalized. This case highlights the importance of sampling site awareness in laboratory diagnostics and demonstrates how implementing a simple laboratory information system (LIS)-based protocol can prevent misinterpretation.

Neuroblastomas represent a diverse group of neuroblastic tumors characterized by variability in their clinical progression and degree of differentiation. In rare cases, patients with neuroblastoma may present with paraneoplastic syndromes, such as watery diarrhea, hypokalemia, and achlorhydria (WDHA syndrome), linked to the secretion of vasoactive intestinal peptide (VIP). We report a case of a 14-month-old girl presented with a three-week history of watery diarrhea and signs of dehydration with no other symptoms. The patient's medical history was unremarkable, and no medication use was reported. Venous blood gas analysis revealed a normal anion gap metabolic acidosis with severe hypokalemia. The patient was referred to our hospital 48 hours post-admission due to persistent hypokalemic metabolic acidosis, unresponsive to intravenous fluid therapy. The primary causes of normal anion gap metabolic acidosis in young children are gastrointestinal bicarbonate loss due to diarrhea and renal bicarbonate loss. Semi-quantitative urine organic acid analysis, reported 48 hours after admission, revealed increased vanillylmandelic acid (VMA) (89 mmol/mol creatinine) and homovanillic acid (HVA) (21 mmol/mol creatinine), raising the suspicion of a neuroblastoma. Subsequent analysis of an acidified urine sample confirmed a more than threefold increase in VMA, HVA, normetanephrine, norepinephrine, and 3-methoxytyramine concentrations. In addition, VIP was markedly elevated (1994 ng/L) in a blood sample. The diagnosis of neuroblastoma was confirmed through imaging and histological examination. This case illustrates that chronic diarrhea with metabolic dysregulation (e.g. hypokalemia) can be the first and only symptom in patients with VIP-secreting neuroblastoma which can result in delayed diagnosis of neuroblastoma.

Introduction: Traditional internal quality control (IQC) has limitations in detecting systematic errors in clinical laboratories. Patient-Based Real-Time Quality Control (PBRTQC) has emerged as a complementary method, offering new approaches for quality monitoring. Among these, monitoring daily positivity rates provides meaningful insights into laboratory performance.

Materials and methods: This study highlights a case in which PBRTQC was implemented to detect and address a reagent batch issue in thyroid peroxidase antibody (TPO-Ab) testing. Over one year (July 2023 to July 2024), daily positivity rates and their fluctuations were retrospectively analyzed and daily positivity rate alarm limits were established for monitoring.

Results: A notable increase in the TPO-Ab positivity rate was identified starting in June 2024. For outpatients and inpatients, the positivity rates in June and July 2024 were 46.1% ± 7.8% (N = 9039) and 61.4% ± 12.0% (N = 8735), respectively. For the physical examination population, the positivity rates during the same months were 30.0% ± 11.7% (N = 4754) and 52.5% ± 18.1% (N = 5726), respectively. These rates were significantly higher than the pre-June 2024 average monthly positivity rates of 30.0% ± 2.9% (N = 9070 per month) for patients and 11.0% ± 2.4% (N = 4663 per month) for the physical examination population.

Conclusions: PBRTQC, particularly monitoring daily positivity rates, is a valuable tool for early detection of systematic errors. Establishing PBRTQC systems can supplement traditional IQC to improve laboratory test quality.