Laboratory medicine最新文献

This case report describes a patient with a medical history of schizophrenia, found in a coma with hyperthermia, likely due to classic heatstroke. The white blood cells observed on the blood smear showed cytological abnormalities characterized by multilobed nuclei, which could be early signs of cell death. The evolution into multiorgan failure led rapidly to death.

Introduction: Human epididymis protein 4 (HE4), a potential novel biomarker for cancers, has been widely used in clinical practice, but evidence of its prognostic value for non-small cell lung cancer (NSCLC) remain insufficient. This study aimed to explore the predictive value of serum HE4 levels on detecting recurrence or metastasis and cancer death among patients with NSCLC.

Methods: We included 102 cases of confirmed NSCLC and 99 healthy control individuals in our cohort study. Venous blood samples from these fasting participants were extracted upon admission for testing serum HE4 levels. Cox regression analysis was used to evaluate the risk of end point events (recurrence or metastasis and cancer death) during a 3-year follow-up.

Results: Among the patients with NSCLC, Kaplan-Meier analysis showed that individuals with median serum HE4 levels of 177.84 pmol/L or higher had much higher risk of recurrence or metastasis and cancer death than did individuals with median serum HE4 levels below 177.84 pmol/L (P < .005). An adjusted model by Cox regression analysis suggested strong associations between serum HE4 levels and recurrence or metastasis (hazard ratio, 2.9 [95% CI, 1.8-6.2], P < .01) and cancer death (hazard ratio, 3.8 [95% CI, 2.5-7.9], P < .01) after confounding variables, including age, sex, smoking history, drinking history and treatment methods, were adjusted for. Furthermore, receiver operating characteristic curve analysis showed that the diagnostic model combining 4 biomarkers-HE4, carcinoembryonic antigen, cytokeratin 19 fragment antigen, and squamous cell carcinoma antigen-exhibited the largest area under the curve (0.996) for diagnosing composite events, with 96.2 % sensitivity and 98.4% specificity.

Discussion: There was an independent correlation between high serum HE4 levels at admission and an increased risk of recurrence or metastasis and cancer death from NSCLC that supports serum HE4 as a biomarker for survival prognosis after NSCLC treatment.

The steps that initiate coagulation in vivo are different from the components of prothrombin time (PT) and activated partial thromboplastin time (aPTT). The reactions of PT and aPTT are kept separate by the addition of high concentrations of tissue factor (for PT) or silica (for aPTT). In vivo, these reactions blend together as an initiation phase followed by a propagation phase. The initiation phase produces small quantities of thrombin, while much larger amounts of thrombin are generated by the propagation phase. Formation of a visible clot occurs when less than 4% of the total thrombin is generated. Although the contact pathway is essential for the aPTT reaction, this set of reactions does not play a role in normal hemostasis in vivo but does appear to be important in pathologic thrombosis and inflammation. The hemostatic pathways are controlled in vivo by the antithrombin system, tissue factor pathway inhibitor, and the protein C and protein S complexes. Platelets and endothelial cells are an essential component of hemostasis. In the presence of thrombin and vessel wall damage, platelets are activated, and they adhere to the bleeding site and aggregate releasing other mediators for further platelet aggregation.

Introduction: Discrepancies in gel card immunohematologic testing can result in false-positive reactions, making detecting antibodies and performing crossmatching difficult. Such unexpected reactivity may result from interactions with test system components, including the column matrix, chemicals, or reagents, rather than true antigen-antibody binding. Accurate identification and resolution of these discrepancies are crucial to prevent delays in transfusion and ensure patient safety.

Methods: This case involved a 24-year-old patient with sickle cell disease who required a blood transfusion, highlighting the diagnostic challenges posed by variability in gel card platforms. Blood grouping was performed using Tulip gel cards (Tulip Diagnostics, Pvt Ltd).

Results: The forward grouping was AB positive, but the reverse grouping showed pan-positive results. Repeat grouping by the gold standard-the conventional tube technique-resolved the discrepancy, and the blood group was identified as AB positive. Antibody screening (ABS) and autoantibody testing using Tulip gel cards showed pan-positive reactions, although the direct antiglobulin test was negative. However, conventional tube techniques for ABS and thermal amplitude tests for autoantibodies were negative. Crossmatching of phenotype-matched packed red blood cell units showed incompatibility on Tulip gel cards but compatibility using the conventional tube technique. The possibility of antibodies against enhancement media, such as low-ionic-strength solution, was ruled out after repeat testing with normal saline and phosphate-buffered saline, which showed negative reactions in different immunohematology tests. Due to suspected interference from the gel card components, crossmatching, ABS, and autoantibody testing were repeated using Bio-Rad gel cards, which showed compatible results.

Discussion: The false-positive reactions were attributed to antibodies against materials in Tulip gel cards, including silica-based microbeads, polyvinyl alcohol, and other stabilizers that are absent in Bio-Rad gel cards. This case underscores the importance of multiplatform validation, reagent standardization, and conventional tube testing in resolving immunohematologic discrepancies and ensuring safe transfusion practices.

Introduction: Lymphocyte compartment undergoes dramatic changes during childhood and adulthood. Changes in lymphocyte subtypes with age, from infancy to senescence, are rare.

Methods: A total of 364 healthy individuals were included in this study. The population was divided into 2 groups: children and adults.

Results: The proportion of naive CD4 T cells decreased gradually in the children group (P < .001), and this decrease was significantly negatively correlated with the adult group (P = .008). Conversely, the percentage of memory CD4 T cells increased, with central memory CD4 T cells showing an increase in both groups and effector memory CD4 T cells especially increasing in the children group (P < .001). A similar pattern of changes was observed in naive CD8 T cells, memory CD8 T cells, and CD45RA-positive regulatory T cells. There was a negative correlation between age and the proportion of naive B cells in the children group (P < .001) as well as plasma B cells in the adult group (P < .001). Sex had no influence on the fluctuation of lymphocyte subsets. Furthermore, positive correlations were observed between the expression of T cells and B cells during the developmental process.

Discussion: The observed trends in the distribution of naive and memory lymphocyte subsets offer valuable insights that can help physicians understand patients' immune state and assess prognostic conditions.

Introduction: Pseudoachondroplasia is a rare and severe genetic disorder caused by a mutation in the COMP gene, making precise molecular diagnosis crucial for effective treatment. In the literature, case reports of patients with pseudoachondroplasia have consistently described novel mutations in the COMP gene.

Methods: This study aimed to review these published articles. The description includes the mutation in the COMP gene; clinical symptoms; and the sex, age, and height of the individual with pseudoachondroplasia.

Results: A review identified various point mutations, deletions, and insertions in the COMP gene that lead to pseudoachondroplasia by affecting the structure and function of the COMP protein.

Discussion: Recent advancements in next-generation sequencing make it essential to use comprehensive genetic screening for bone disorders such as pseudoachondroplasia because this testing enables precise, cost-effective, and rapid mutation detection across multiple genes, improving diagnostic accuracy and supporting informed reproductive decisions and genetic counseling.

Introduction: Primary germ cell tumors (GCTs) are highly malignant and often affect young adult men. They commonly occur in the reproductive organs but can also affect structures along the body's midline, including the mediastinum, retroperitoneum, and pineal gland.

Methods: We present the genetic analyses of a 21-year-old African American man diagnosed with primary GCT of the anterior mediastinum.

Results: DNA variants of NRAS and TP53 were identified in the teratomatous and embryonic components of his tumor. These variants were not identified in benign tissue, indicating their somatic origin. Several copy number variants were detected in both tumor components, including gains of chromosome 1, 3p, 12p with loss of homozygosity, and 21; segmental loss of 9q; and 13q copy neutral loss of homozygosity. Divergent copy number variants were identified in either teratomatous or embryonic components, including gains of chromosomes 7, 9, and 17 in the teratomatous component and gains of chromosomes 2, 4, 6, 8, and 11 in the embryonic component.

Discussion: These DNA alterations may be genetic drivers of tumor initiation or progression in our patient. They may have diagnostic and prognostic value for mediastinal GCTs.

Introduction: Coronary artery disease (CAD) is a prevalent inflammatory disease. Interferon λ 1 (IFN-λ1) is a known factor that participates in the pathogenesis of proinflammatory diseases, but the roles of IFN-λ1 in CAD and its regulators have yet to be clarified. Bioinformatic analysis revealed that hsa-miR-2113-5p can target IFN-λ1 with a score of 84. Thus, this project was designed to explore the relative expression of hsa-miR-2113-5p in patients with CAD and its correlation with IFN-λ1 expression.

Methods: In this project, 60 Iranian volunteers were enrolled, including 40 people with CAD and 20 people without CAD. Relative expression of hsa-miR-2113-5p and IFN-λ1 was explored using the real-time polymerase chain reaction technique.

Results: The results showed that neither hsa-miR-2113-5p nor IFN-λ1 expression levels were different between individuals with CAD and control individuals. There were no correlations among hsa-miR-2113-5p, IFN-λ1, and age in control individuals or individuals with CAD.

Discussion: Because individuals with CAD have chronic inflammation and alteration of several genes, no alterations in the molecules demonstrated that chronic inflammation associated with CAD is independent of hsa-miR-2113-5p and IFN-λ1.