Laboratory medicine最新文献

Introduction: Proficiency testing, a cornerstone of external quality assessment, benchmarks laboratory performance and detects systematic errors. Although extremely rare, matrix-related interference in proficiency testing samples can produce misleading results across platforms, highlighting the importance of sample commutability.

Methods: During a proficiency testing cycle for transfusion-transmitted infections, a blood center observed uniform low hepatitis B surface antigen reactivity in 5 blinded samples on the Alinity i chemiluminescent microparticle immunoassay (CMIA) platform (Abbott). This consistent yet unusual reactivity prompted further investigation. Cross-validation using the Roche Elecsys-e411 analyzer, Abbott ARCHITECT i1000SR analyzer, and the bioMérieux VIDAS enzyme-linked fluorescent assay (ELFA) showed similar results, whereas the QuidelOrtho VITROS 3600 chemiluminescence immunoassay reported 4 nonreactive results and 1 invalid result. Reflex testing on rapid immunochromatographic tests, nucleic acid testing (NAT), and neutralization assays was performed. A reflex testing protocol that integrated orthogonal methodologies, root cause analysis, and corrective maintenance were employed to systematically investigate discordance.

Results: The CMIA consistently showed low reactivity; the ELFA was borderline; and the VITROS 3600, rapid tests, and NAT were nonreactive. Neutralization assays confirmed nonspecific signals. Instrument issues were excluded. The external quality assessment provider attributed these findings to matrix interference, likely from stabilizers. Performance assessment used a peer group methodology.

Discussion: Matrix interference in proficiency testing, although rare, can compromise interpretation. Reflex testing, structured root cause analysis, robust standard operating procedures, staff training, and attention to sample commutability are essential to strengthen quality assurance.

Introduction: Thyroglobulin levels in washout fluids from fine needle aspiration (FNA) biopsies of suspicious thyroid lesions is a well-established tool in diagnosis and follow-up of both papillary and follicular thyroid cancer. Despite the importance of this procedure, there is no standardization of the analytical process. We sought to validate an ultrasensitive thyroglobulin immunoassay not formulated for FNA washout fluids and to assess thyroglobulin stability based on matrix, storage temperature, and elapsed time before analysis.

Methods: Repeatability, limit of blank, limit of detection, and limit of quantification of thyroglobulin in 3 different matrices (kit diluent, serum free, and saline) were determined. Each sample was diluted and assayed immediately or after 14 or 21 days at ‒20 °C.

Results: Low coefficients of variation (s/x¯) × 100 were obtained, while limit-of-detection values for kit diluent and serum-free matrices resulted in values comparable to those reported for serum. Similar values of thyroglobulin were obtained in whole samples tested immediately or after 14 or 21 days of storage.

Conclusions: Analytical validation of the ultrasensitive immunoassay for FNA samples was obtained for 3 matrices; matrix features and sample storage at ‒20 °C do not affect the reliability of thyroglobulin measurements. Use of a protein matrix is recommended for possible presence of samples with low analyte values.

Introduction: Extracellular vesicles (EVs) are emerging as biomarkers with diagnostic potential for tumors, yet EV isolation from plasma remains challenging. In this study, the efficacy of EXODUS for isolating EVs from plasma was evaluated, and the association of these EVs with clinical parameters in patients with glioma and pulmonary tumors were explored.

Methods: Plasma EVs were isolated from 19 patients with glioma, 25 patients with pulmonary tumors, and 16 healthy control individuals using EXODUS. Briefly, EVs were analyzed and confirmed by nanoparticle tracking analysis, transmission electron microscopy, and Western blotting (CD9/Flotillin-1/Alix). In addition, the associations between plasma EVs and clinical measurements, such as biochemical, hematologic, and inflammatory indicators, were examined by Pearson or Spearman tests.

Results: EXODUS was used to isolate EVs of comparable sizes (30-150 nm) across groups from 400 µL plasma. Extracellular vesicle concentrations were much higher in plasma from patients with gliomas and pulmonary tumors than in healthy control samples. The EV protein levels followed similar trends. Plasma EV concentrations strongly correlated with triglyceride levels in patients with gliomas, whereas EV protein levels were negatively correlated with albumin levels in pulmonary tumor/healthy control samples. Compared with blood-based inflammatory markers, EV proteins demonstrated superior diagnostic performance.

Discussion: Our results show that EXODUS is an effective method for isolating EVs from plasma. In this pilot study, an initial investigation of plasma EVs was performed as an auxiliary indicator in cancers for potential clinical application. Plasma EVs with sufficient yield and purity will pave the way for further functional analyses, including proteomics.

Introduction: The American Society for Clinical Pathology Board of Certification Research and Development Committee has undertaken regular surveys of Medical Laboratory Science (MLS) education programs to gather information to support MLS program directors and faculty in educating students.

Methods: The survey was sent out to MLS program directors and faculty who answered questions related to demographics, education level and rank, certification patterns, experience, responsibilities, salaries, and retirement.

Results: Results were mainly analyzed by the respondents' titles. The survey data reveal a newer cohort of program directors and faculty, which affected data such as retirement and experience. Hospital program directors' and faculty's salaries have increased at a similar rate to inflation since 2020, but salaries for university program directors and faculty have increased at a much slower rate than inflation within the same time frame.

Discussion: Results of previous surveys in 2019 and 2022 are also reported. At the time the 2023 survey was conducted, laboratory professional training programs were beginning to return to the "new" normal following the COVID-19 pandemic restrictions. The results of this survey and those of subsequent years will shed light on the changes in the MLS education field and the impact of the pandemic on program directors and faculty.

Introduction: Congenital insensitivity to pain with anhidrosis (CIPA), caused by biallelic pathogenic variants in the NTRK1 gene, is a rare disorder characterized by the loss of pain sensation, anhidrosis, and impaired temperature regulation.

Methods and results: We present a clinical case of a 2-year-old male Chinese patient, compound heterozygous for 2 NTRK1 pathogenic variants-c.851-33T>A and c.1805G>A-confirmed by clinical exome sequencing. The patient exhibited classic CIPA symptoms, including recurrent fever episodes, xerotic skin, sparce hair, abnormality of the dentition, and anhidrosis. The child also displayed preserved fine touch but lacked pain response to stimuli, emphasizing the clinical challenges posed by pain insensitivity, including an increased risk of injury. Multidisciplinary management approach involving dermatology, pediatrics, pediatric neurology, pediatric dentistry, pain management, and genetics was coordinated.

Discussion: This case reinforces the importance of early diagnosis and lifelong palliative care to prevent complications and manage symptoms. In addition, this report highlights the higher prevalence of CIPA in Asian populations and the need for ongoing research to explore potential therapeutic interventions targeting pain perception and neurodevelopmental pathways.

Introduction: To explore the correlation between the expression of Tat interacting protein-30 (TIP30) mRNA in serum of patients with hepatitis B virus (HBV) -derived decompensated liver cirrhosis and recompensation as well as short-term prognosis.

Methods: The clinical data of 109 patients with the HBV-related decompensated cirrhosis who were hospitalized in the First Affiliated Hospital of Xi'an Jiaotong University and the First People's Hospital of Xianyang City from January 2018 to December 2023 were collected and analyzed, retrospectively, including 51 patients who occured recompensation and 58 patients who occured non-recompensation. Serum TIP30 mRNA expression was detected by Real-time polymerase reaction (RT-PCR).

Results: An increase in TIP30 mRNA expression after treatment was observed in the recompensation group compared to non-recompensation group (P < 0.001). Our analysis showed that serum TIP30 mRNA expression in the decompensated liver cirrhosis patients was negatively correlated with Child Pugh score, portal vein diameter, spleen length, and the morbidity in ascite, hepatic encephalopathy, hepatorenal syndrome, spontaneous peritonitis, pulmonary infection, and gastrointestinal bleeding (all P < 0.05).

Conclusion: Detecting serum expression of TIP30 mRNA can provide a basis for evaluating the recompensation and short-term prognosis of decompensated liver cirrhosis. AS shown in .

Introduction: Patients with rheumatoid arthritis (RA) can develop interstitial lung disease (ILD) with increased morbidity and mortality. The diagnostic values of serum carcinoembryonic antigen (CEA), cancer antigen (CA) 125, and human epididymis protein 4 (HE4) in these patients was unclear.

Methods: A cross-sectional study enrolled patients with RA and healthy control individuals from January 2020 to August 2024. Demographics, disease duration, high-resolution computed tomography scan images, and laboratory test results were collected and analyzed.

Results: The cohort comprised 87 patients with RA (40 with and 47 without ILD) and 82 healthy individuals. Serum CEA, CA125, and HE4 levels were clinically significantly higher in patients with RA than in healthy control individuals; they were also elevated in patients with RA and ILD compared with patients with RA but not ILD. Increased levels of CEA, CA125, and HE4 were associated with more severe impairments in pulmonary function. Each biomarker demonstrated satisfactory performance, with the combination of all 3 yielding the highest efficacy (sensitivity = 95.00%, specificity = 95.74%, area under the curve = 0.993) for evaluating ILD.

Discussion: Serum CEA, CA125, and HE4 levels were clinically significantly elevated in patients with RA, particularly in those patients with ILD, and higher levels correlated with poorer pulmonary function. Their combination could facilitate accurate assessment of RA-associated ILD.

Introduction: Vitamin D receptor (VDR) variations have attracted attention because of their potential impact on metabolic regulation and liver health. This study aimed to investigate the association between VDR polymorphisms and clinical parameters as well as the risk of metabolic dysfunction-associated steatotic liver disease (MASLD; formerly nonalcoholic fatty liver disease) in a Turkish population.

Methods: The study included 390 participants: 200 patients with MASLD and 190 healthy control individuals. VDR rs1544410, rs2228570, and rs731236 variations were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method.

Results: There was no statistically significant difference in the overall genotype distribution of VDR variants between patients and control individuals. The rs1544410 AA and AG genotypes were associated with higher triglyceride levels. The rs2228570 CT genotype was associated with increased hypertriglyceridemia and hypertension, whereas the CC genotype was more frequent in patients with microvascular complications. The rs731236 CC and CT genotypes were also associated with a higher risk of hypertriglyceridemia.

Discussion: Our study revealed that the VDR rs1544410, VDR rs2228570, and VDR rs731236 variations substantially modulate the risk of hypertriglyceridemia, hypertension, and microvascular complications in MASLD.

Introduction: Laboratory reference ranges and phlebotomy guidelines are derived from ambulatory individuals, whose values reflect reduced plasma volume from hydrostatic pressure shifts. These conditions may not represent intensive care unit (ICU) patients, who remain supine for extended periods. This study evaluated the impact of posture on routine hematologic and biochemical laboratory tests in ICU patients.

Methods: A prospective, single-center study with a within-subject design enrolled adult, hemodynamically stable ICU patients. Blood samples were collected first in supine patients and again after 15 minutes in upright patients. Paired specimens were compared for differences in routine hematologic and biochemical test values.

Results: Forty-four patients, with a mean (SD) age of 65 (14) years, were included. Statistically significant posture-related differences were observed in red and white blood cell counts, hemoglobin, hematocrit, potassium, carbon dioxide, anion gap, albumin, alkaline phosphatase, and total bilirubin (P ≤ .05). Correlation analyses showed associations between atherosclerosis and white blood cell count, antibiotic use, and hematocrit; liver disease or sepsis was associated with red blood cell distribution width. Potassium levels were correlated with cardiovascular disease, glucose with trauma, and total protein with intracranial hemorrhage.

Discussion: Upright positioning for 15 minutes improves the accuracy of routine laboratory testing in ICU patients and should be considered in phlebotomy protocols.