Clinical laboratory最新文献

Background: Hcy is a sulfhydryl amino acid in the metabolism of methionine. It has been recognized as an independent risk factor for cardiovascular disease. In recent years, the relationship between hyperhomocysteinemia and renal disease has received attention from many researchers. However, the specific mechanisms by which Hcy plays a role in cardiovascular pathology in patients with chronic kidney disease are complex.

Methods: We consulted the relevant literature and sorted and summarized it.

Results: Multiple mechanisms of hyperhomocysteinemia-induced renal injury are summarized in detail from different perspectives, including oxidative stress, vascular endothelial damage, inflammatory response, cellular autophagy, apoptosis, fibrosis, and epigenetic regulation.

Conclusions: Hyperhomocysteinemia acts synergistically through multiple pathways, leading to glomerulosclerosis, tubular atrophy, and interstitial fibrosis, and ultimately accelerating renal failure. These mechanisms are complex and interrelated, suggesting that a comprehensive intervention strategy may achieve the ultimate goal of reducing renal injury.

Background: Protein S, a vitamin K-dependent protein, is crucial in inhibiting blood clotting, and its deficiency increases the risk of thrombotic disease. However, most studies have focused on Western populations. Although Koreans have a lower incidence of thrombotic diseases, the risk is rising due to aging and Westernized lifestyle habits. Therefore, protein S levels should be investigated in Koreans for developing strategies to prevent and manage thrombotic diseases. This study aimed to analyze protein S-related data according to age and gender in Korean adults.

Methods: This retrospective study examined protein S activity and free protein S levels from January 2017 through December 2023 in Korean adults, using data from commissioned inspection institutions in Korea. Protein S activity was measured using a coagulation-based assay, while free protein S levels were determined via immunoturbidimetric analysis. Data were categorized by year, gender, age group, and type of protein S deficiency, and trends in test values and frequency were analyzed.

Results: A total of 2,470 individuals (907 men and 1,563 women) were included. Protein S activity increased with age until 50 - 59 years, then declined, whereas free protein S levels peaked at 70 - 79 years before slightly decreasing. The number of protein S tests increased steadily over the years, with consistently more tests performed in women than in men throughout. Women showed significantly lower levels of both protein S activity and free protein S than men (p < 0.001), and a strong significant positive correlation was observed between the two protein S activity and free protein S tests (R = 0.543, p < 0.001). Deficiency patterns were classified into three groups based on test results. Among these, the most prevalent group (39.3%) had decreased protein S activity with normal free protein S, particularly among women and individuals aged 20 - 39 years.

Conclusions: This study provides critical reference data on protein S levels in Koreans, highlighting significant age- and gender-related differences. These findings contribute to refining thrombotic risk assessment in Korean populations and complement existing Western-based studies. Further research incorporating clinical histories is warranted to enhance the clinical applicability of protein S testing.

Background: The goal of the study is to investigate the clinical characteristics and prognostic analysis of acute myeloid leukemia in children with positive DEK-CAN fusion gene.

Methods: The clinical characteristics and prognostic analysis methods of a case of acute myeloid leukemia in children with positive DEK-CAN fusion gene were retrospectively analyzed, and the domestic and international literature was reviewed.

Results: The patient is a girl, 11 years old. The clinical diagnosis was acute myeloid leukemia M2a. Liver full, spleen large, a few small lymph nodes in bilateral axilla and retroperitoneum. Blood routine: WBC: 34.49 x 10⁹/L, RBC: 0.91 x 10¹²/L, Hb: 30g/L, Plt: 26 x 10⁹/L, the proportion of leukocyte classification granulocyte was significantly increased, and the primitive naive granulocyte accounted for 56%. Bone marrow smear: primitive naive myelodysplasia, 74% of myeloid original cells, large cell body, moderate plasma volume, round or irregular nuclei, fine nuclear chromatin, visible nucleoli. Peroxidase (MPO) staining: positive. Immunophenotypic expression of antigens CD117, HLA-DR, CD13, CD33, CD123, partial expression of antigens CD34, CD38, abnormal myeloid original cells. Patients tested by fusion gene were positive for DEK-CAN with FLT3-ITD mutation. The clinical di-agnosis was acute myeloid leukemia M2a. Chromosome karyotype analysis showed no split phase. The IA regimen, FLAG regimen, and HIA regimen were given successively, and no remission was achieved.

Conclusions: Patients with DEK-CAN fusion gene positive AML have a very poor prognosis, low primary induced remission rate, and high mortality. For confirmed cases, patients in remission with chemotherapy should undergo allogeneic hematopoietic stem cell transplantation as soon as possible to have a chance of long-term survival.

Background: This study aimed to explore the characteristics of HIV infection prevalence and laboratory detection results among voluntary non-remunerated blood donators in Hefei.

Methods: Statistical analyses were performed on 609,230 blood samples from blood donation volunteers receiving HIV screening tests in Blood Center of Anhui Province from 2017 through 2021. Blood samples were screened and/or confirmed by HIV ELISA, nucleic acid testing (NAT), and western blotting (WB)-based HIV confirmation detection if appropriate. The reactive rates, correlation, and consistency of HIV ELISA screening and WB confir-mation tests as well as NAT were comprehensively analyzed in a large scale. The efficacies of HIV ELISA reagents were assessed through ROC curve analyses.

Results: The WB confirmed HIV-positive rate averaged 0.013% (80/609,230) among the blood donation cases between 2017 and 2021. In the HIV-positive population, the gender ratio (male to female) was over 25, the age group of 18 - 30 years was predominant, with blood group types of mainly A and B, and most were office employees and students. The total number of HIV preliminary screening tests with reactive results by two ELISA reagents (reagent 1 and reagent 2) amounted to 1,948 (0.320%), with 1,828 of single-reagent reactive and 120 of double-reagent reactive. The HIV ELISA initial and retest reactive rates for reagent 1 vs. reagent 2 were 0.077% vs. 0.405% (p < 0.001) and 0.054% vs. 0.286% (p < 0.001), respectively, but their ELISA retest compliance rates were comparable. The ROC curve analyses showed that the area under curve (AUC) and specificity of reagent 1 were relatively higher than those of reagent 2, but both shared an identical sensitivity.

Conclusions: From 2017 through 2021, the local participation of voluntary non-remunerated blood donation showed an overall increasing trend, and the HIV infection prevalence maintained relatively stable in the blood donating population, with the infected individuals being dominated by sexually active young male office employees and students. There existed certain differences in the screening efficacies of distinct HIV ELISA reagents. The au-thorized laboratories should comprehensively evaluate the selection of blood screening programs and reagents to effectively conserve blood resources and reduce the risk of blood-borne HIV transmission.

Background: Osteonecrosis of the femoral head is a common orthopedic disease, usually caused by traumatic and non-traumatic factors. Antiphospholipid syndrome (APS) is an autoimmune disorder marked by the persistent presence of antiphospholipid antibodies (aPL). Acquired subclinical hemophilia A is a subset of acquired hemophilia A. The content of factor VIII often drops to the subclinical range due to the inhibitor of factor VIII produced by certain autoimmune diseases. Here, we report a rare case of osteonecrosis of the femoral head with APS and subclinical hemophilia A.

Methods: The patient was diagnosed with bilateral femoral head necrosis according to clinical symptoms and imaging findings. APS and subclinical hemophilia A were diagnosed based on a coagulation function test, APTT correction experiment, antiphospholipid antibody detection, thromboelastogram and coagulation factor activity and inhibitor detection.

Results: The above test results confirmed the presence of both antiphospholipid antibodies and factor inhibitors in the patient, which is rare clinically. The diagnosis of femoral head necrosis with antiphospholipid syndrome and acquired subclinical hemophilia A was established.

Conclusions: Such cases are extremely rare, relevant experimental results are complex, and misdiagnosis and mistreatment are common clinically. We report this case to remind clinicians and blood transfusion department staff to focus on coagulation experiments and related diseases, avoid misdiagnosis and delayed diagnosis, and provide timely, standardized treatment to improve patient prognosis.

Background: Energy metabolism (EM) genes play crucial roles in tumor development and progression. While neuroblastoma (NBL) cells exhibit high proliferation rates requiring efficient energy metabolism, the underlying mechanisms remain incompletely understood.

Methods: Transcriptomic analysis of the TARGET-NBL dataset was performed to stratify samples based on EM-related gene expression. Differential expression analysis and weighted gene co-expression network analysis (WGCNA) were integrated to identify critical gene modules. Prognostic biomarkers were determined through univariate and multivariate Cox regression analyses. Functional enrichment analysis and drug prediction were conducted for the identified biomarkers. Expression levels of candidate genes (GRIA2, FBXO32, GNG12, and PHLDA2) were validated using qRT-PCR. The biological function of GNG12 was investigated through gain- and loss-of-function studies in neuroblastoma cell lines.

Results: The analysis identified 1,675 differentially expressed genes and two critical modules (MEblack and MEturquoise) through WGCNA. Four prognostic biomarkers (GRIA2, FBXO32, GNG12, and PHLDA2) were established and integrated into a nomogram with clinical parameters. Functional analysis revealed their involvement in extracellular matrix organization, DNA replication, and nucleocytoplasmic transport. Drug prediction identified potential therapeutic compounds targeting GRIA2 and FBXO32. Experimental validation demonstrated elevated expression of all four biomarkers in neuroblastoma cell lines compared to normal controls. Notably, GNG12 knockdown significantly suppressed while its overexpression enhanced proliferation and migration of SH-SY5Y cells.

Conclusions: This study identified and validated four EM-related prognostic biomarkers in neuroblastoma, with GNG12 functionally implicated in tumor cell proliferation and migration. These findings provide potential therapeutic targets and prognostic indicators for neuroblastoma management.

Background: This study aimed to analyze the infection rate, drug-resistant phenotypes, and hematological index profiles of methicillin-resistant Staphylococcus aureus (MRSA) and methicillin-sensitive S. aureus (MSSA) in patients with diabetic foot ulcers (DFUs). This study sought to provide insights for the early identification of MRSA infections and the optimization of antimicrobial strategies in patients with DFU.

Methods: The clinical data of patients with DFUs hospitalized from January 2022 through June 2023 were retrospectively reviewed. The detection rate and drug resistance profile of S. aureus were analyzed using bacterial culture and drug sensitivity testing. Additionally, the differences in hematological indices between the MRSA and MSSA infection groups were compared.

Results: A total of 1,385 patients with DFU underwent bacterial culture of secretions, with a positive rate of 50.25% (696/1,385) for pathogenic bacteria. The detection rate of S. aureus was 14.58% (202/1,385), out of which MRSA accounted for 38.12% (77/202). The MRSA group exhibited resistance to macrolides (clarithromycin: 64.94% vs. 36.00%; erythromycin: 70.13% vs. 39.20%; azithromycin: 66.23% vs. 38.40%), lincosamides (clindamycin: 68.83% vs. 31.20%), and quinolones (levofloxacin: 28.57% vs. 15.20%; moxifloxacin: 15.58% vs. 5.60%). These differences were statistically significant (all p < 0.05). Furthermore, hematological analysis revealed significant disparities between the two groups in erythrocyte mean corpuscular hemoglobin concentration (MCHC), D-dimer, albumin (ALB), alkaline phosphatase (ALP), and electrolytes (Na+, Cl-, Ca2+) (all p < 0.05).

Conclusions: This study examined the characteristics of DFU-associated MRSA infection, particularly its multidrug resistance features. MRSA infection demonstrated 100% sensitivity to vancomycin and linezolid. The findings suggest that combined detection of MCHC, D-dimer, ALB, ALP, Na+, Cl-, and Ca2+ may serve as a valuable reference for the early identification of DFU-associated MRSA infection in clinical settings. Clinicians should be mindful of MRSA infection risks in patients with DFU and develop individualized anti-infection regimens based on drug sensitivity profiles to improve prognosis.

Background: Severe hypertriglyceridemia (HTG) is a critical risk factor for acute pancreatitis. Lipemic interference in laboratory testing complicates diagnosis and delays clinical intervention. This case highlights strategies to mitigate lipemia-induced analytical errors.

Methods: A 42-year-old male presented with severe abdominal pain and markedly elevated triglycerides (> 21.94 mmol/L). Lipemia interference was addressed via 1) 10-fold dilution for rapid lipid profiling and 2) high-speed centrifugation (15,000 rpm, 20 minutes) with repeated processing of the subnatant.

Results: Dilution provided preliminary lipid results within 2.5 hours, revealing extreme hypertriglyceridemia (77.72 mmol/L), prompting plasma exchange. Centrifugation corrected electrolyte and protein measurements (e.g., sodium: 128 - 137 mmol/L; total protein: 84.2 - 62.8 g/L).

Conclusions: Dilution and centrifugation are effective for rapid reporting and accurate analysis of lipemic samples. Standardized protocols for lipemia management are essential for timely clinical decision-making.

Background: Ovarian cancer (OC) is an invasive gynecological cancer with an overall 5-year survival rate of less than 45%. Endoplasmic reticulum (ER) stress plays a crucial role in regulating oncogenic events and immune-modulatory pathways, influencing malignant progression, antitumor immunity, and treatment response. However, the full scope of ER stress in ovarian cancer remains poorly understood and warrants further investigation.

Methods: RNA sequencing and clinical data were sourced from the Cancer Genome Atlas (TCGA) and Gene Expression Omnibus database (GEO). ER stress-related genes associated with ovarian tumor prognosis were identified, and an ER stress risk score model was developed using LASSO regression. We utilized this ER stress risk score to explore differences in immune cell infiltration. Furthermore, the biological role and expression of the risk gene KRT8 were validated through molecular biology experiments.

Results: We identified 573 genes related to ER stress that were differentially expressed genes (DEGs) between normal and tumor tissues. The ER stress-related risk signature (ERRS) constructed using the TCGA dataset was regarded as an independent and significant prognostic model for predicting cancer progression and instructing clinical decisions. Additionally, KRT8 was found to be overexpressed in ovarian cancer cells and tissues. Downregula-tion of KRT8 inhibited ovarian cancer cell proliferation and migration (in both SKOV3 and OVCAR8 cells) in vitro.

Conclusions: The ER stress-related gene model we developed can be utilized to assess the prognostic risk for OC patients. Importantly, KRT8 was identified as a key risk gene in ovarian cancer, promoting tumor progression, and holds potential as a novel therapeutic target.

Background: The aim of this study is to examine the effectiveness of oscillation-induced depolymerization in mitigating pseudothrombocytopenia (PTCP) under varying oscillatory conditions.

Methods: A total of 161 patients diagnosed with PTCP and admitted between May 2020 and November 2023 were included in the study. The patients were categorized into four groups based on oscillation parameters: 1,500 rpm for 1 minute, 1,500 rpm for 3 minutes, 3,000 rpm for 1 minute, and 3,000 rpm for 3 minutes. Platelet (PLT) depo-lymerization was assessed pre- and post-oscillation in each group, and peripheral blood smears were examined to evaluate platelet distribution. Additionally, the Mindray BC-6800 Plus hematology analyzer, in combination with a special stain, was utilized to verify depolymerization and identify the most appropriate depolymerization method for clinical application.

Results: PLT counts were significantly higher in the 3,000 rpm for 3 minutes and the 3,000 rpm for 1 minute groups compared to the 1,500 rpm for 1 minute group (p < 0.05). However, no significant differences in white blood cell and red blood cell counts were observed across the oscillation conditions (p > 0.05). Depolymerization rates in the 3,000 rpm groups were significantly higher than those in the 1,500 rpm groups (p < 0.05). The oscillation-induced depolymerization rate in the 3,000 rpm for 3 minutes group reached 93.79%, which was significantly greater than that in the special stain group (11.80%) (p < 0.05). Logistic regression analysis identified elevated lymphocyte count and potassium level as risk factors for incomplete depolymerization, while total bilirubin, direct bilirubin, and indirect bilirubin levels were found to be protective factors (p < 0.05).

Conclusions: Oscillation at 3,000 rpm for 3 minutes resulted in the highest rate of platelet depolymerization and demonstrated favorable clinical efficacy for PTCP management. Monitoring of lymphocyte count, potassium, total bilirubin, direct bilirubin, and indirect bilirubin levels is essential to facilitate timely implementation of the oscillation method, thereby reducing the incidence of PTCP and enhancing the accuracy of clinical detection.