Laboratory medicine最新文献

Introduction: Congenital hypofibrinogenemia is a genetic disorder caused by defects in the fibrinogen gene. We identified a case of congenital hypofibrinogenemia with mutations in the FGA, FGB, and FGG genes associated with bleeding risk and conducted experimental studies to explore the condition's pathogenesis.

Methods: To investigate the bleeding risk in the proband, we performed coagulation screening and genetic analysis, supplemented by sodium dodecyl sulfate polyacrylamide gel electrophoresis, electron microscopy, sequence conservation analysis, and thromboelastography to elucidate the pathogenic mechanism.

Results: Fibrinogen levels in the proband's plasma were measured by 3 methods: 0.81 g/L (Clauss assay), 0.95 g/L (prothrombin time derived), and 0.87 g/L (enzyme-linked immunosorbent assay). The proband and her father had c.37T > C (p.Tyr13His) in the FGG gene; c.959-16_959-13delTTTG deletion mutation, c.567C > T (p.Ser189=), c.1125C > T (p.Tyr375=), c.1433G > A (p.Arg478Lys), and c.1433G > A (p.Arg478Lys) in the FGB gene; and c.991A > G (p.Thr331Ala) in the FGA gene. Scanning electron microscope analysis showed that the proband's fibrin fibers were fine, with a loose spatial structure and increased pore size.

Discussion: The c.959-16_959-13delTTTG deletion is the main cause of congenital hypofibrinogenemia in this family. The γTyr13His heterozygous mutation may have a minor impact on the structure and function of the fibrinogen molecule. The Bβ(Ser189=, Tyr375=, Arg478Lys) and AαThr331Ala mutations may have a certain impact on the proband's clinical phenotype.

Introduction: In this study, we aimed to evaluate serum creatinine levels with reference change value in patients receiving treatment with gentamicin.

Methods: Serum creatinine levels of patients who received gentamicin were recorded retrospectively before treatment and on the 7th and 14th days after treatment. Analytical coefficient of variation (s/x̄) × 100 (CV) and reference change value were calculated (z = 1.64,; P < .05). The percentage increase in serum creatinine level at day 7 and day 14 compared with before treatment was considered statistically significant if it exceeded the reference change value. Nephrotoxicity was assessed by comparing changes in serum creatinine levels using reference change value and Kidney Disease: Improving Global Outcomes (KDIGO) criteria.

Results: A total of 55 patients with a mean (SD) age of 53 (17) years were included in the study. The reference change value for serum creatinine was calculated as11.9%. The rate of increase in serum creatinine levels showed a statistically significant increase in 45.5% and 63.6% of patients on days 7 and 14, respectively, compared with before treatment, while the increase was statistically significant in 8.2% and 25.5% of patients, respectively, when evaluated by KDIGO criteria.

Discussion: We believe that it would be in the patient's best interest for clinicians to include reference change value in clinical nephrology practice alongside known acute kidney failure criteria.

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: Laboratory tests play a crucial role in diagnosing and managing illness. Accurate interpretation, which includes evaluating false-negative and false-positive results, is essential for guiding appropriate clinical interventions and ensuring patient safety.

Methods: We present a case involving clinically significant discrepancies in lactate measurements in a patient with acute myeloid leukemia and diabetic ketoacidosis.

Results: These discrepancies were caused by interference from elevated levels of ketone bodies-specifically, β-hydroxybutyrate-which may have delayed recognition of the severity of the patient's condition.

Discussion: Dilution and spike experiments suggested potential interferences in core laboratory instruments using the Trinder reaction, leading to inaccurate lactate readings.

Introduction: Autoimmune encephalitis can occur in isolation or as a postinfectious complication, such as following infection with SARS-CoV-2.

Methods: A patient presented with neuropsychiatric symptoms 3 weeks after SARS‑CoV‑2 infection, including dysphagia, psychosis, and partial-onset seizures. The patient tested positive for anti-N-methyl-d-aspartate receptor antibodies in cerebrospinal fluid as well as anti-γ-aminobutyric acid type A receptor and anti-glutamic acid decarboxylase antibodies in the serum. Findings from brain magnetic resonance imaging and electroencephalography were unremarkable. Cerebrospinal fluid analysis revealed 3 white blood cells/μL, slightly elevated total protein levels (3.16 mmol/L [reference range, 0.83-2.50 mmol/L]), normal blood glucose levels (3.44 mmol/L [reference range, 2.22-3.88 mmol/L]), and negative results on Gram stain and cytologic examination. Nevertheless, a diagnosis of autoimmune encephalitis was established. After 3 months, elevated liver enzyme levels and positive anti-liver-kidney microsomal type 1, anti-smooth muscle, and anti-α-actinin antibodies led to liver biopsy and diagnosis of autoimmune hepatitis.

Results: The patient was treated with repeated pulses of intravenous methylprednisolone, followed by rituximab administered every 6 months for 2 years, resulting in complete recovery.

Discussion: This unprecedented case raises a high index of suspicion for autoimmune states in patients presenting with compatible clinical features, even when typical laboratory findings are unremarkable.

Introduction: This study aimed to investigate the utility of vascular endothelial growth factor (VEGF) and osteopontin (OPN) as predictive biomarkers in hepatocellular carcinoma patients (HCC) and cirrhosis and identifying its potential diagnosis of HCC.

Methods: We used enzyme-linked immunosorbent assay to estimate serum levels of OPN and VEGF in 82 Egyptian patients hospitalized for liver transplantation at our Gastrointestinal Surgery Center and 40 nondisease control (NDC) individuals.

Results: Overall, OPN, VEGF, and ɑ-fetoprotein (AFP) higher levels were statistically significantly higher in patients with HCC than in patients with cirrhosis and in the NDC group as well as between patients with cirrhosis and in the NDC group (P < 0.001); OPN and VEGF exhibited statistically significant predictive ability for tumor progression. The diagnostic performance of OPN, VEGF, and AFP using receiver operating characteristic curve analysis showed that OPN demonstrated diagnostic accuracy (85.36%), with an area under the curve of 0.927, supporting its clinical applicability; VEGF showed moderate diagnostic accuracy (65.90%), with an area under the curve of 0.715.

Discussion: Overall, OPN and VEGF displayed substantial predictive ability for tumor progression and can be employed as early markers of the onset of HCC. Osteopontin can effectively distinguish between HCC and cirrhosis and can be used in conjunction with AFP to provide the most accurate diagnosis.

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: Sepsis represents a critical response to infection; it is characterized by systemic inflammation, shock, and potential organ failure. Soluble triggering receptor expressed on myeloid cells 1 (sTREM-1) has been identified as a crucial marker in sepsis, connecting the activation of innate immunity to systemic inflammation.

Methods: This prospective nested case control study was carried out in the intensive care unit and surgery department from March 2018 to June 2019. Adults undergoing abdominal surgery, with and without sepsis, were included in the study, and sTREM-1 and cytokine levels were measured.

Results: A total of 120 patients were included in the study, comprising 31 noninfected individuals, 37 with sepsis, and 52 with septic shock. sTREM-1 levels were statistically significantly elevated in patients with sepsis and septic shock compared with noninfected individuals (P < .001). Receiver operating characteristic curve analysis revealed an area under the curve of 0.722 for sTREM-1 in the prediction of septic shock.

Discussion: Elevated sTREM-1 levels are associated with the severity of sepsis and may function as a prognostic biomarker. Additional research is required to confirm these findings and investigate therapeutic interventions aimed at the sTREM-1 pathway.

Introduction: Isolated myeloid sarcoma, defined as an extramedullary manifestation of acute myeloid leukemia with essentially normal bone marrow, is frequently misdiagnosed as other disorders due to its nonspecific presentation.

Methods: A 31-year-old woman presented at Shanghai Changhai hospital with abdominal symptoms without obvious inducement.

Results: Computed tomography scans revealed circumferential wall thickening of the terminal ileum with luminal narrowing, accompanied by moderate ascites. Primitive myeloid cells were identified in ascitic fluid through cytologic analysis. Flow cytometric analysis of the ascitic fluid showed an immunophenotypic profile consistent with myeloid blasts. Molecular analysis of the ascitic fluid identified the presence of CBFβ::MYH11 fusion genes. The bone marrow aspiration, biopsy, and fluorescence in situ hybridization test revealed normocellular marrow without abnormalities. The final diagnosis was isolated myeloid sarcoma.

Discussion: Cytologic, flow cytometric, and molecular analyses of ascitic fluid can provide critical diagnostic evidence for myeloid sarcoma in cases where abdominal effusion is associated with myeloid sarcoma involvement.

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.