Diagnostics最新文献

Cancer cells exhibit abnormal behavior compared to normal cells. They ignore growth arrest signals such as contact inhibition, a mechanism that stops their proliferation when they collide with surrounding cells, and proliferate in an uncontrolled manner, destroying tissue. Early detection and treatment of cancer are therefore important for healthy longevity. Cancer cells differ from normal cells in their characteristic gene expression due to their abnormalities. Cancer markers that reflect these characteristics have been searched for and applied to diagnosis. Although analysis of blood antigens has been the main method, further development of a diagnostic system is needed for early detection of cancer. Next-generation sequencers have improved gene expression analysis technology, making it possible to analyze detailed gene expression in cancer cells and nucleic acid molecules in blood or urine. In addition, cancer cells release extracellular vesicles, exosomes, which are known to contain molecules that may serve as cancer markers. This review summarizes the latest findings on exosomal cancer markers.

Goldmann-Favre syndrome (GFS) is a rare vitreoretinal degenerative disorder caused by mutations in the NR2E3 gene located on the short arm of chromosome 15. This condition, inherited in an autosomal recessive manner, was first described by Favre in two siblings, with Ricci later confirming its hereditary pattern. In GFS, rod photoreceptors are essentially replaced by S-cone photoreceptors. Enhanced S-Cone Syndrome (ESCS) and Goldmann-Favre syndrome are two distinct entities within the spectrum of retinal degenerative diseases, both caused by mutations in the NR2E3 gene. Despite sharing a common genetic basis, these conditions exhibit significantly different clinical phenotypes. ESCS is characterized by an excessive number of S-cones (blue-sensitive cones) with degeneration of rods and L-/M-cones, leading to increased sensitivity to blue light and early-onset night blindness. In contrast, GFS is considered a more severe form of ESCS, involving additional features such as retinal schisis, vitreous degeneration, and more pronounced visual impairment. GFS typically manifests in the first decade of life as night blindness (nyctalopia) and progressive visual acuity impairment. The clinical features include degenerative vitreous changes such as liquefaction, strands, and bands, along with macular and peripheral retinoschisis, posterior subcapsular cataract, atypical pigmentary dystrophy, and markedly abnormal or nondetectable electroretinograms (ERGs). Although peripheral retinoschisis is more common in GFS, central retinoschisis may also occur. Despite the consistent genetic basis, the phenotype of GFS can vary significantly among individuals. The differential diagnosis should consider diseases within the retinal degenerative spectrum, including retinitis pigmentosa, congenital retinoschisis, and secondary pigmentary retinopathy.

Non-small cell lung cancer (NSCLC) is the leading cause of cancer-related mortality worldwide. Advances in tissue-based biomarkers have significantly enhanced diagnostic and therapeutic approaches in NSCLC, enabling precision medicine strategies. This review provides a comprehensive analysis of the molecular pathologist's practical approach to assessing NSCLC biomarkers across various specimen types (liquid biopsy, broncho-alveolar lavage, transbronchial biopsy/endobronchial ultrasound-guided biopsy, and surgical specimen), including challenges such as biological heterogeneity and preanalytical variability. We discuss the role of programmed death ligand 1 (PD-L1) immunohistochemistry in predicting immunotherapy response, the practice of histopathological tumor regression grading after neoadjuvant chemoimmunotherapy, and the application of DNA- and RNA-based techniques for detecting actionable molecular alterations. Finally, we emphasize the critical need for quality management to ensure the reliability and reproducibility of biomarker testing in NSCLC.

Background: Patients with rectal cancer may be exposed to a loss of muscle strength and quality. This study aimed to assess the role of preoperative CT-based sarcopenia on postoperative clinical, pathological, and oncological outcomes after rectal cancer surgery. Methods: This retrospective monocentric study included patients who underwent elective oncologic resection for rectal adenocarcinoma between 01/2014 and 03/2022. The skeletal muscle index (SMI) was measured using CT at the third lumbar vertebral level, and sarcopenia was defined based on pre-established sex-specific cut-offs. Patients with sarcopenia were compared to those without sarcopenia in terms of outcomes. A Cox proportional hazard regression analysis was used to determine the independent prognostic factors of disease-free survival (DFS) and overall survival (OS). Results: A total of 208 patients were included, and 123 (59%) had preoperative sarcopenia. Patients with sarcopenia were significantly older (66 vs. 61 years, p = 0.003), had lower BMI (24 vs. 28 kg/m², p < 0.001), and were mainly men (76 vs. 48%, p < 0.001). There was no difference in overall and major complication rates between the sarcopenia and non-sarcopenia group (43 vs. 37%, p = 0.389, and 17 vs. 17%, p = 1.000, respectively). Preoperative and postoperative features related to rectal surgery were comparable. The only predictive factor impacting OS was R1/R2 resection (HR 4.915, 95% CI, 1.141-11.282, p < 0.001), while sarcopenia (HR 2.013, 95% CI 0.972-4.173, p = 0.050) and T3/T4 status (HR 2.108, 95% CI 1.058-4.203, p = 0.034) were independently associated with DFS. Conclusions: A majority of patients undergoing rectal cancer surgery had preoperative CT-based sarcopenia. In this cohort, sarcopenia had no impact on postoperative morbidity and OS but was independently associated with DFS.

Background: Accurate classification of brain tumors in medical images is vital for effective diagnosis and treatment planning, which improves the patient's survival rate. In this paper, we investigate the application of Convolutional Neural Networks (CNN) as a powerful tool for enhancing diagnostic accuracy using a Magnetic Resonance Imaging (MRI) dataset. Method: This study investigates the application of CNNs for brain tumor classification using a dataset of Magnetic Resonance Imaging (MRI) with a resolution of 200 × 200 × 1. The dataset is pre-processed and categorized into three types of tumors: Glioma, Meningioma, and Pituitary. The CNN models, including the Classic layer architecture and the ResNet50 architecture, are trained and evaluated using an 80:20 training-testing split. Results: The results reveal that both architectures accurately classify brain tumors. Classic layer architecture achieves an accuracy of 94.55%, while the ResNet50 architecture surpasses it with an accuracy of 99.88%. Compared to previous studies and 99.34%, our approach offers higher precision and reliability, demonstrating the effectiveness of ResNet50 in capturing complex features. Conclusions: The study concludes that CNNs, particularly the ResNet50 architecture, exhibit effectiveness in classifying brain tumors and hold significant potential in aiding medical professionals in accurate diagnosis and treatment planning. These advancements aim to further enhance the performance and practicality of CNN-based brain tumor classification systems, ultimately benefiting healthcare professionals and patients. For future research, exploring transfer learning techniques could be beneficial. By leveraging pre-trained models on large-scale datasets, researchers can utilize knowledge from other domains to improve brain tumor classification tasks, particularly in scenarios with limited annotated data.

Background: Heart rate turbulence (HRT) is a non-invasive technique that can be used to evaluate autonomic nervous system (ANS) function and cardiac arrhythmia. The objective of this study is to investigate whether COVID-19 can lead to long-term blunted HRT following recovery. Methods: This retrospective cohort study included 253 individuals with a confirmed history of COVID-19, referred to as the recovered COVID-19 group, along with 315 healthy participants who had no history of the virus. The recovered COVID-19 group was categorized into three subgroups based on their chest CT severity scores. The HRT analyses were obtained from a 24-h electrocardiography-Holter recording. Results: This study revealed that the HRT onset value was elevated in the recovered COVID-19 group, while the HRT slope value showed a significant decrease when compared to the control group. Correlation analyses indicated a positive relationship between the chest CT severity score and HRT onset, whereas a negative correlation was observed between the chest CT severity score and HRT slope. Regression analyses identified recovery from severe COVID-19, chest CT severity score, hypertension (HT), and smoking as independent predictors of both abnormal HRT onset and the existence of an abnormal HRT slope. Conclusions: Individuals who have recovered from severe COVID-19 are expected to encounter a permanent blunting of HRT, which is regarded as a significant indicator of an increased risk of ventricular arrhythmias and impaired autonomic nervous system (ANS) function. Recovered severe COVID-19 individuals should be carefully evaluated for HRT with 24-h ECG-Holter.

Background/Objective: With increasing cases of osteoporosis in children and adolescents, the need for timely diagnosis, management, and follow-up has become important. This study aimed to determine whether bone turnover markers (BTMs), particularly serum bone-specific alkaline phosphatase (BsALP) and serum C-telopeptide of collagen type 1 (CTx), accurately reflect BMD. Methods: In this retrospective study, 280 post-puberty males and females who were previously diagnosed with hemato-oncologic, rheumatic, gastrointestinal, and endocrinologic diseases at a single tertiary care center were reviewed. The association between the lumbar spine bone mineral density (LSBMD) Z-scores and BTMs, such as BsALP and CTx, were assessed. The LSBMD was measured in the anterior-posterior direction using DXA, and BTMs were determined using the blood samples obtained. Results: Of the 280 patients, 95 were male (33.9%), and the mean age was 15.4 ± 2.07 years. With multivariate regression analysis, LSBMD Z-scores and BsALP showed a negative correlation with p < 0.007, while CTx was not statistically significant. The logistic regression models showed that after adjusting for underlying diseases and sex, as BsALP increased, the probability of LSBMD Z-score being ≤-2 increased with an odds ratio of 1.043 (p = 0.048). When comparing BTMs with vertebral fracture while adjusting for underlying diseases and sex, as BsALP increased, the probability of vertebral fracture increased with an odds ratio of 1.035 (p = 0.005). Conclusions: The positive correlation between BsALP and LSBMD Z-scores being ≤-2, as well as with vertebral fracture after adjusting for underlying diseases and sex, suggests the possible application of BsALP as a predictor of bone health in patients.

Background/Objectives: To evaluate the postoperative outcomes between the second-generation keratorefractive lenticule extraction (KLEx) surgery and femtosecond laser in situ keratomileusis (FS-LASIK). Methods: A retrospective cohort study was conducted and subjects received second-generation KLEx and FS-LASIK surgeries were enrolled. A total of 124 and 102 eyes were selected into the second-generation KLEx and FS-LASIK groups after exclusion. The primary outcomes were the postoperative uncorrected distance visual acuity (UDVA), spherical equivalent (SE), amount of astigmatism, and best-correct visual acuity (BCVA). The independent t-test was applied to compare the primary outcomes between groups. Results: The mean UDVA three months postoperatively showed insignificant differences between the two groups (p = 0.999). At the final visit, there were 113 (91.12%) and 96 (94.12%) subjects who reached UDVA 20/20 in the FS-LASIK and second-generation KLEx groups and the difference was statistically insignificant (p = 0.455), and the second-generation KLEx group illustrated a higher UDVA improvement (p = 0.046). The SE three months postoperatively showed insignificant difference between groups, whether the absolute value or the ratio of SE within ±0.50 D or ±1.00 D (all p > 0.05). The vector analysis indicated that the difference vector (DV) was significantly lower in the second-generation KLEx group (p = 0.033). The ratio of loss of more than 1 line BCVA showed insignificant differences between the two groups (all p > 0.05). In addition, the risk of postoperative dry eye disease (DED) was significantly higher in the FS-LASIK group (p = 0.031). Conclusions: The efficiency and predictability between second-generation KLEx and FS-LASIK surgeries are similar, while more DED occurred after FS-LASIK surgery.

Background: Fluorescence in situ hybridization (FISH) testing against chromosome 12 centromere (CEN12) is routinely included in the work-up of patients with suspected chronic lymphocytic leukemia (CLL) or monoclonal B-cell lymphocytosis (MBL). However, incidental findings can occur and be challenging. Methods: Interphase and metaphase FISH analyses with various probes, including CEN12 probes from different vendors, and conventional cytogenetics were applied. Results: A CLL FISH panel was performed at the clinician's request on a peripheral blood specimen from a 55-year-old female with fluctuating leukocytosis and lymphocytosis for over six years. An additional diminished CEN12 FISH signal was observed in approximately 70% of the nucleated cells analyzed. Concurrent flow cytometry excluded a diagnosis of CLL or MBL, and karyotyping exhibited a normal female karyotype. Further studies excluded potential cross-hybridization due to limited specificity of the CEN12 probes and revealed the location of the additional diminished CEN12 signal on the centromere of one chromosome 16 homolog (CEN16), without other material from the short arm (12p) or long arm (12q) of chromosome 12 being involved. Conclusions: This is the first case with an "uncertain" trisomy 12 status, presenting a challenge to clinical cytogenetic diagnosis. Although the mechanism for this mosaic "partial trisomy 12" and its clinical impact remain unknown, this case highlights the importance of further investigation using orthogonal methods to clarify incidental findings during diagnostic practice.

Background: The choice of software package (SP) for image processing affects the reproducibility of myocardial blood flow (MBF) values in [¹³N]NH₃ PET/CT scans. However, the impact of motion correction (MC) tools-integrated software motion correction (ISMC) or data-driven motion correction (DDMC)-on the inter-software reproducibility of MBF has not been studied. This research aims to evaluate reproducibility among three commonly used SPs and the role of MC. Methods: Thirty-six PET/CT studies from patients without myocardial ischemia or infarction were processed using QPET, Corridor-4DM (4DM), and syngo.MBF (syngo). MBF and coronary flow reserve (CFR) values were obtained without motion correction (NMC) and with ISMC and DDMC. Intraclass correlation coefficients (ICC) and Bland-Altman (BA) plots were used to analyze agreement. Results: Good or excellent reproducibility (ICC ≥ 0.77) was found for rest-MBF values, regardless of the SPs or use of MC. In contrast, stress-MBF and CFR values presented mostly a moderate agreement when NMC was used. The RCA territory consistently had the lowest agreement in stress-MBF and CFR in the comparisons involving QPET. The use of MC, particularly DDMC, enhanced the reproducibility of most of the stress-MBF and CFR values by improving ICCs and reducing bias and limits of agreement (LoA) in BA analysis. Conclusions: MBF quantification agreement between SPs is strong for rest-MBF values but suboptimal for stress-MBF and CFR values. MC tools, especially DDMC, are recommended for improving reproducibility in stress-MBF assessments, although differences in SP reproducibility up to 0.77 mL/g/min in global stress-MBF and up to 0.88 in global CFR remain despite the use of MC.