Laboratory medicine最新文献

Introduction: Prostate cancer is one of the most commonly diagnosed cancers in men worldwide, and early detection is essential for improving survival. Current diagnostic methods, such as prostate-specific antigen tests and biopsies, have limitations, emphasizing the need for noninvasive biomarkers.

Methods: Proteomics analysis was performed on urine samples from patients with prostate cancer and healthy individuals to identify differentially expressed proteins. Publicly available datasets, including the National Center for Biotechnology Information Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA), were analyzed to validate gene expression patterns and their association with survival outcomes.

Results: Proteomics analysis identified 18 statistically significantly altered proteins in patients with prostate cancer, including reduced expression of ciliary neurotrophic factor receptor (CNTFR). Validation with GEO and TCGA datasets confirmed lower CNTFR expression in prostate cancer tissues than in normal tissues. Reduced CNTFR expression was associated with poorer overall survival and disease-free survival.

Discussion: CNTFR is a promising noninvasive diagnostic biomarker for prostate cancer. Its reduced expression in urine and tissues, along with its association with poor prognosis, highlights its potential for improving prostate cancer diagnosis and outcomes through noninvasive methods.

Introduction: Early-stage diagnosis is crucial for the best prognosis in breast cancer. Here, our objective was to compare serum tumor protein p53 (TP53) levels in an Egyptian population with benign breast disease vs breast cancer to investigate the protein's utility in early detection and intervention, alongside existing tumor-related markers, including carcinoembryonic antigen (CEA), cancer antigen 125 (CA125), and CA15.3.

Methods: We enrolled 231 patients in this study: 146 with breast cancer, 50 with benign conditions, and 35 without breast pathology (healthy control individuals). The serum level of TP53, CEA, CA125, and CA15.3 was quantitated using an enzyme-linked immunosorbent assay. Data were examined using the t test, Spearman correlation, and receiver operating characteristic curve analysis.

Results: Patients with breast cancer showed clinically significant higher serum levels of TP53 than did individuals with benign conditions and healthy control individuals. Elevated TP53 levels were correlated with advanced tumor stage (P <.001) and high-tumor grade (P <.001). TP53 effectively distinguished between benign disease and early-stage breast cancer, with an area under the curve of 0.88, 73.6% sensitivity, and 78.0% specificity. Multinomial logistic regression analysis showed that combining TP53 with other tumor-related markers improved early breast cancer detection. Both TP53 and CA125 remained significant predictors in this analysis. A new function, the PCA-Index, which combines concentrations of TP53 and CA125, was developed to enhance early detection in early stages (T1-T2) and low grades (1-2) with notable results: areas under the curve of 0.96 and 0.98, a specificity of 90.0%, and sensitivities of 85.7% and 91.7%, respectively.

Discussion: The combined detection of TP53 and CA125, the PCA-Index, has important clinical value for early detection of breast cancer with a high degree of sensitivity and specificity.

Introduction: Patients with diabetic ketoacidosis are at heightened risk of increased morbidity and death due to acute kidney injury (AKI). Early AKI detection is therefore essential. A new biomarker called urinary neutrophil gelatinase-associated lipocalin (NGAL) has been used to predict early AKI in several diseases. We aimed to determine the predictive role of urinary NGAL for AKI development in adults with diabetic ketoacidosis.

Methods: The study included 56 patients with diabetic ketoacidosis classified into 2 groups based on urinary NGAL levels on admission to the intensive care unit (ICU). Group A had high urinary NGAL levels (≥197.5 nmol/L), and group B had urinary NGAL levels below 79.0 ng/mL. The primary outcome was the development of AKI during the ICU stay.

Result: No statistically significant differences in serum creatinine, estimated glomerular filtration rate (eGFR), and serum urea nitrogen were observed between the 2 groups upon admission. On the seventh day of admission, eGFR and urine output were lower in group A than in group B. Within groups A and B, 71.1% and 38.9%, respectively, developed AKI. A urinary NGAL cutoff value above 583.75 nmol/L predicted AKI.

Discussion: Urinary NGAL at a cutoff value above 583.75 nmol/L on admission has a good predictive value for AKI in patients with diabetic ketoacidosis. Early detection of AKI could improve diabetic ketoacidosis outcomes and decrease the risk of chronic kidney disease in individuals with diabetes.

Introduction: Hyperamylasemia, typically a sign of digestive system disorders, especially pancreatic issues, has an unexpected link with lung cancer in some patients. This report describes such a case in which hyperamylasemia was associated with ALK fusion mutant lung adenocarcinoma.

Methods: We identified the type of tumor through histologic analysis and pulmonary biopsy of the tumor and further identified the type of genetic mutation in the tumor using genetic testing. Subsequently, we continuously monitored the serum amylase levels and tumor size during therapy, and this process presented an analysis on the correlation between hyperamylasemia and lung adenocarcinoma while considering the response to targeted therapy.

Results: During the detailed research and observation process, we surprisingly discovered that the serum amylase levels throughout the entire course of therapy exhibited a remarkable parallelism with tumor size and the tumor response to targeted therapy.

Discussion: We suggest that serum amylase may be a tumor marker that may lead to a more effective approach to the diagnosis and treatment of related diseases.

Introduction: The primary cause of immune thrombocytopenic purpura (ITP), an acquired type of thrombocytopenia, is the destruction of platelets by autoantibodies. Nowadays, there is a lot of interest in using noninvasive biomarkers to diagnose and detect the severity of many disorders. This study aimed to evaluate the association of one such biomarker, CD30, with primary immune thrombocytopenia.

Methods: The study included 50 patients with ITP and 30 healthy individuals with matched age and sex used as a control group. For all participants, the messenger RNA (mRNA) expression of CD30 was measured by real-time polymerase chain reaction, and the concentration of plasma soluble CD30 (sCD30) was estimated using enzyme-linked immunosorbent assay.

Results: The plasma sCD30 level was substantially higher in patients with ITP than in control individuals (P = .043), and the expression level of CD30 mRNA was substantially higher in patients with ITP than in control individuals (P < .001). In addition, the plasma sCD30 level was higher in active ITP cases than in remission ITP cases (P < .001), and the expression of CD30 mRNA was substantially higher in active ITP cases than in remission ITP cases (P < .001).

Discussion: Estimation of plasma sCD30 and CD30 mRNA levels has good utility for assessing the disease activity in patients with ITP.

Introduction: Diabetic microangiopathy (DMAP) is a common chronic complication of diabetes. This study aimed to explore the early diagnostic value of the copy number and methylation level of cell-free mitochondrial DNA in the serum of patients with DMAP.

Methods: A total of 40 patients with simple diabetes (diabetes group) and 50 patients with DMAP (40 with diabetic nephropathy [DN group] and 10 with diabetic retinopathy [DR group]) were included in the study. The copy number and methylation levels of cell-free mitochondrial DNA in serum were examined using real-time polymerase chain reaction and high-resolution melting curves.

Results: The serum copy number of cytochrome b (Cytb), NADH dehydrogenase subunit 6 (ND6), and displacement loop (DLoop) genes statistically significantly increased in the DN and diabetes groups compared with the healthy control group (P < .001). The high-resolution melting curve results showed that the degree of methylation of ND6 decreased with the progression of DMAP compared with that in the health control group (P < .001). There was a statistically significant increase in the methylation degree of the DLoop genely in both the DN and DR groups compared with both the health control and diabetes groups (P < 0.001).

Discussion: The copy number of the Cytb, ND6, and DLoop genes in patients with DMAP differed from that in the healthy control group. Mitochondrial DNA methylation of ND6 and DLoop may be a novel potential biomarker of DMAP.

Introduction: Serologic testing for Treponema pallidum is the basis of diagnosis for syphilis. False-positive serologic results, however, may result in inaccurate diagnosis, with a substantial impact on clinical management and patient status.

Methods: This study reports 5 cases of children who presented with tonsillar hypertrophy and had false-positive results on the syphilis chemiluminescence immunoassay (CLIA).

Results: The children tested positive for syphilis by CLIA but negative by enzyme-linked immunosorbent assay, rapid plasma reagin test, and T pallidum particle agglutination test. Laboratory examination revealed that all 5 children had abnormally high serum immunoglobulin G levels, suggesting that tonsillar hypertrophy-induced polyclonal B-cell activation can generate nonspecific antibodies that cross-react with the solid-phase antigen in the CLIA kit.

Discussion: The current study is the first to identify the characteristic interference of chronic head and neck inflammation in children by CLIA testing. It suggests that for similar cases, the test result should be verified by various methods after a preliminary positive screening, and the patient's immune activation status should be monitored to distinguish nonspecific interference.

Introduction: The post-COVID-19 work environment has seen widespread employee disengagement and increased turnover rates. To combat this negative cultural shift, the pathology department at a large academic medical center launched a culture-change initiative using the FISH! Philosophy program in fall 2023.

Methods: Employees were invited to participate in FISH! Philosophy training and completed a baseline survey before attending (n = 125), a pulse survey at the conclusion of their session (n = 86), and a follow-up survey after 3 to 6 months (n = 53).

Results: Employees responded positively to the training (94.1%). Improvement in job satisfaction (4.2% increase) and improved culture (reported by 49%) were noted, along with improvements in other key categories related to interpersonal relationships. Trust, however, saw a statistically significant decline (4.4%). Free-text comments were included in 42% of follow-up surveys, indicating that FISH! practices continue to be implemented in their work areas.

Discussion: Although early results are mixed, positive movement has been observed in employee attitudes and behaviors. As more employees, and especially faculty and leadership, are trained, we anticipate that less resistance will be encountered, and lasting culture change will occur.

Introduction: Aneuploidies are commonly implicated in spontaneous abortions. Trisomy with concurrent monosomy of chromosome X is a rare finding that may mimic hydatidiform mole.

Methods: We describe a case of trisomy 15 and monosomy X in a product of conception. Ultrasound revealed a gestation with absent cardiac activity; pregnancy was terminated by dilation and curettage at 11 weeks, 6 days. Histopathologic examination and cytogenetic analysis were performed on the products of conception to identify the cause of pregnancy loss.

Results: Chromosome microarray revealed a chromosome complement with trisomy 15 and monosomy X, [arr(X)×1, (15)×3], consistent with a karyotype of 46,X +15.

Discussion: Histopathologic examination of products of conception with aneuploidies may be inconclusive, and chromosomal microarray is a versatile tool in these scenarios to rule out clinically significant entities such as hydatidiform mole. An imbalance of imprinted gene dosage from chromosome 15 may contribute to the histopathologic findings in this case.

Introduction: Giant prolactinoma, a prolactin-secreting pituitary adenoma greater than 4 cm in largest dimension, poses unique diagnostic and therapeutic challenges, setting it apart from smaller prolactin-secreting tumors.

Methods: A 48-year-old man reported decreased ability to maintain penile erection. His genital examination was normal. Massively elevated prolactin (17 164.5 µg/L, confirmed by dilution), low testosterone, and low luteinizing hormone were found. A giant prolactinoma encasing the internal carotid arteries and invading the surrounding bones was found. Carotid flow voids were not narrowed. Formal visual field testing revealed no deficits.

Results: The insulinlike growth factor 1 was normal, and the growth hormone suppressed appropriately 120 minutes after a 75-g oral glucose load. Over 8 months of cabergoline, the prolactin level normalized and the testosterone level increased. Striking regression of the tumor was observed after 1 year of therapy, although prolonged therapy was planned given that the mass was still encasing the carotid arteries. The patient's sexual symptoms improved. All prolactinomas should be treated with dopamine agonists to lower prolactin levels, shrink the tumor, preserve vision (if compromised), and restore gonadal function.

Discussion: This case of giant macroprolactinoma highlights the need for confirming markedly elevated prolactin measurements with dilution of the sample; assessing for concurrent growth hormone excess; and initiating dopamine agonist therapy as a first line, long- term therapy.