Diagnostics最新文献

Background/Objectives: Chronic spontaneous urticaria (CSU) is an immune-mediated skin disorder, with increasing evidence suggesting its association with autoimmune thyroid diseases. The presence of antithyroid antibodies (anti-TPO and anti-TG) and autoimmune thyroid disease indicates shared immunological mechanisms in the pathogenesis of both conditions. This study examines the prevalence of autoimmune thyroid changes in patients with CSU. Methods: The study was conducted as a combined retrospective-prospective observational analysis. It included 43 patients with CSU and 50 healthy participants in the control group. Thyroid hormone levels (TSH, T3, T4), anti-TPO and anti-TG antibodies, as well as ultrasound characteristics of the thyroid gland, were analyzed. Results: In patients with CSU, a higher prevalence of hypothyroidism (27.9% vs. 4% in the control group), hypertension, asthma, and diabetes were observed. Elevated levels of anti-TPO antibodies were found in 51.2% of CSU patients, compared to only 6% in the control group (p < 0.001). Similarly, anti-TG antibodies were increased in 41.9% of CSU patients, compared to 4% in the control group. Additionally, ultrasound analysis revealed significant differences in thyroid morphology, with a heterogeneous structure observed in 72.1% of CSU patients, compared to only 14% in the control group (p < 0.001). Nodular changes were present in 34.88% of CSU patients, whereas the prevalence in the control group was only 6% (p < 0.001). Conclusions: Our results confirm a significant association between CSU and autoimmune thyroid diseases, including a high prevalence of anti-TPO and anti-TG antibodies, hypothyroidism, diffuse heterogeneity, and nodular changes. Additionally, elevated T3 hormone levels were common among CSU patients, while T4 levels did not differ significantly from those in the control group.

Background: Diabetes mellitus (DM) is a major risk factor for the development of periodontal disease and aggravates the severity of periodontal conditions. Matrix metalloproteinases (MMPs) are known to degrade periodontal ligament attachment and bone matrix proteins. Increased expression of CD147 is associated with increased synthesis of several MMPs, being a modulator of MMP expression, including that of MMP-14. The purpose of this study was to quantify and compare the expressions of MMP-14 and CD147 in gingival tissues of patients with and without type 2 diabetes mellitus. Material and Methods: In this histological study, we included 33 subjects with periodontal disease: 16 patients with type 2 DM (test group) and 17 systemically healthy patients (control group). Tissue fragments were processed using an immunohistochemistry technique to determine immunoreactivity (IR) intensity of MMP-14 and CD147. Results: In the group of diabetes patients with periodontitis, 56.2% showed weak positive expressions (+), while 43.8% had intensely positive expressions (+++) of MMP-14. Statistically significant differences between test and control groups (p = 0.004, p = 0.883, and p = 0.002) were found for the membranous IR intensity of MMP-14. In the group of diabetes patients with periodontitis, 56.2% had moderate positive expressions (++) of CD 147, while 43.8% showed intensely positive expressions (+++). Statistically significant differences between the test and control groups were found (p = 0.001, p = 0.002, and p = 0.003) for the membranous IR intensity of CD147. Conclusions: The significantly higher membranous IR intensity for MMP-14 and CD 147 demonstrates the role of these biomarkers in the development of periodontal pathology in diabetes patients. It can be assumed that MMP-14 and CD147 could be further investigated as potential predictive biomarkers.

Background/Objectives: Secundum-type atrial septal defect (ASD) is one of the most common congenital heart defects, with an incidence of 5.64 per 10,000 live births worldwide. In our study, long-term follow-up results of children who underwent percutaneous ASD closure and patients who underwent surgical treatment were evaluated using right ventricular strain echocardiography and electrocardiography. Methods: 30 patients who underwent transcatheter ASD closure and 30 patients provided with surgical ASD closure were prospectively compared with 50 healthy children with similar demographic characteristics. ECG and transthoracic echocardiography were performed for all patients. The evaluated echocardiography variables are Tricuspid annular plane systolic excursion (TAPSE), 2D right ventricle (RV) and right atrium (RA) dimensions, right ventricular segmental longitudinal strain, and global longitudinal strain. ECG evaluation was performed especially in terms of QRS duration and its correlation with strain echo measurements. Results: The surgical treatment group has statistically significant ASD size compared to patients who underwent transcatheter closure (20 ± 3.6 and 14.87 ± 3.7 mm, p < 0.001). Patients who had surgical treatment have increased RA and RV diameters, and a statistically significant decrease was observed in right ventricular free-wall longitudinal strain and right ventricular four-chamber longitudinal strain compared to patients in transcatheter and the control group (p < 0.001). QRS durations were similarly normal in electrocardiography in the transcatheter and the control groups, and the QRS duration was observed as statistically significantly increased in the patients in the surgical treatment group (p < 0.001). Conclusions: Strain values of the patients who underwent surgical closure were lower, and the QRS values on the ECG were longer, compared to the transcatheter group, which is an indicator that a large ASD diameter has a negative effect on long-term right ventricular function. With this in mind, we argue that early surgical closure is an appropriate treatment option for children whose ASD is large for their age and who are not suitable candidates for transcatheter treatment.

Background/Objectives: This study aimed to analyze critical limit and critical value test lists from major US medical centers, identify changes in quantitative critical limit thresholds since 1990, document notification priorities for qualitative and new listings, and visualize information alongside clinical thresholds and pathophysiological trends. Methods: A systematic search was conducted, acquiring 50 lists of critical limits and critical values from university hospitals, Level 1 trauma centers, centers of excellence, and high-performing hospitals across the US. Lists were obtained through direct contact or web-accessible postings. Statistical analysis used the Kruskal-Wallis non-parametric test and Student's t-test to determine significant differences between 1990 and 2024 critical limits. Results: Statistically significant differences were identified in various clinical tests between 1990 and 2024, comprising glucose, calcium, magnesium, CO₂ content, blood gas parameters, hematology, and coagulation tests. Ranges for critical limits narrowed for several tests, and new measurands were added. Cardiac biomarkers were infrequently listed. Point-of-care testing (POCT) listings were sparse and showed significant differences from main lab values in the high median critical limit for glucose Conclusions: Visualizing this information has potential benefits, including ease of interpretation, which can improve patient care, reduce inconsistencies, and enhance the efficiency and quality of healthcare delivery.

Objectives: To analyze the microscopic anatomy of the human uterine cervix in two-dimensional (2D) and three-dimensional (3D) images obtained by microtomography (microCT). Methods: Human uterine cervixes surgically removed for benign gynecologic conditions were immersed in formalin and iodine solution for more than 72 h and images were acquired by microtomography. Results: In total, 10 cervical specimens were evaluated. The images provided by microCT allowed the study of the vaginal squamous epithelium, demonstrated microscopic 3D images of the metaplastic process between the exo and endocervix, and demonstrated the effects of metaplastic transformation on the thickness of the endocervical epithelium. Also reconstructed in 3D the endocervical folds and the repercussions of the metaplastic process on the endocervix, the changes of the endocervical epithelium along the cervical lumen and the relationship between the endocervix epithelium from the internal os and endometrium. In addition, 2D images could demonstrate the difference in tissue orientation of the collagen on the cervical stroma in a large field of view. Conclusions: MicroCT could demonstrate the microscopic anatomy of the human uterine cervix in 2D and 3D images, including the different stages of metaplastic process of the endocervical epithelium and reconstructed the endocervical lumen in 3D, preserving its natural anatomy without any mechanical effect for its dilatation.

Objectives: Determination of the postmortem interval (PMI) remains a critical challenge in forensic science. Intervertebral discs, due to their structural resilience, hold promise as a reliable tissue for PMI estimation; however, studies focusing on their forensic applicability remain limited. This study aimed to evaluate progressive histopathological changes in intervertebral discs at specific postmortem intervals and assess their forensic applicability. Materials and Methods: A total of 48 rats were divided into six groups: control (0 h), 7-day, 15-day, 30-day, 60-day, and 90-day postmortem intervals. Intervertebral disc samples were stained with hematoxylin-eosin and trichrome, and histopathological parameters such as homogenization, eosinophilia, dissociation, nuclear alterations (pyknosis and karyolysis), and collagen fragmentation were analyzed. Results: Statistically significant changes were observed across postmortem intervals (p < 0.001). Homogenization progressed from mild changes at 7 days to prominent levels by 90 days. Eosinophilia and dissociation between the epithelium and connective tissue also increased significantly over time (p < 0.001). Collagen fragmentation, initially minimal, became severe at the 90-day interval. The observed changes demonstrated a clear, time-dependent progression strongly correlating with the PMI. Conclusions: Our findings suggest that histopathological changes in intervertebral discs follow a consistent and time-dependent pattern, making them a potential forensic marker for PMI estimation. This has important implications for forensic science, as it offers an alternative tissue type that is less susceptible to early decomposition compared to soft tissues. These results suggest that the intervertebral disc is a promising tissue for PMI estimation, offering a complementary approach to existing forensic methods.

Background/Objectives: This study aims to evaluate the impact of temporomandibular disorders (TMDs) on oral health-related quality of life (OHRQoL), determine the effects of different influencing factors, and identify the most affected dimensions among the Saudi Arabian population. Methods: A cross-sectional study was conducted among 110 individuals visiting the Department of Oral Medicine at the Dental University Hospital (DUH), King Saud University. Participants were equally categorized into two groups: TMD and controls. The diagnosis was based on the Diagnostic Criteria for Temporomandibular Disorders (DC/TMDs). OHRQoL was assessed using the OHIP-TMD scale. Statistical analyses included independent t-tests, chi-square tests, and multivariate regression models to evaluate the association between TMD and OHRQoL. Results: The study population consisted of 72.7% females, with 91.8% holding a degree and 81.8% being married. TMD patients showed significantly lower OHRQoL scores in all domains (p ≤ 0.05), with the most pronounced impairments observed in terms of physical pain and psychological discomfort (p = 0.000). Marital status was a significant predictor of OHRQoL (p = 0.02; OR = 0.277), whereas gender and education showed no significant associations. Conclusions: TMD is significantly associated with impaired OHRQoL, particularly in the domains of physical pain and psychological discomfort. Marital status emerged as a significant demographic factor influencing OHRQoL. Given the cross-sectional nature of this study, the findings highlight associations rather than causation. Future longitudinal studies are recommended to establish causal relationships and further investigate the biopsychosocial impact of TMD on quality of life.

Background/Objectives: Congenital bicuspid aortic valve (BAV) signifies the most frequent category of congenital cardiovascular anomaly globally, occurring in approximately 0.5-2% of the general population worldwide. BAV is a major cause of thoracic aortopathy, encompassing aortic stenosis, aortic root dilation with regurgitation, aortic dissection, and aortic aneurysms, consequently leading to substantial late-onset morbidity and mortality. Accumulating evidence convincingly demonstrates the strong genetic basis underpinning BAV, though the inheritable reasons responsible for BAV in most patients remain largely obscure. Methods: A genome-wide genotyping with 400 polymorphic genetic markers followed by linkage analysis, haplotype assay, and sequencing analysis of candidate genes was conducted in a 4-generation BAV kindred of 47 individuals. Biochemical assays were performed to evaluate the functional effect of the identified mutation on TBX20. Results: A novel BAV-causative locus was mapped to chromosome 7p14. A sequencing assay of the genes within the mapped chromosomal region (locus) unveiled that only the c.656T>G (p.Ile219Arg) variation of TBX20 was in co-segregation with BAV in the entire pedigree. The missense mutation was not uncovered in 322 healthy persons employed as control individuals. Functional deciphers revealed that the mutation significantly decreased the transcriptional activation of the representative target gene ANP and the binding ability to the ANP promoter and impaired the intranuclear distribution of TBX20. Conclusions: This investigation maps a new genetic locus (chromosome 7p14) linked to BAV and uncovers TBX20 as a novel causative gene for familial BAV, adding more insight into the mechanisms underlying BAV and providing a molecular target for the individualized management of BAV.

Objectives: The aim of this study was to investigate retinal and choroidal microvascular changes in patients with axial spondyloarthritis (axSpA) treated with long-term anti-TNF therapy and NSAIDs and in healthy control subjects using optical coherence tomography angiography (SS-OCT-A). Methods: A total of 162 eyes from 81 participants were included: 52 eyes from 26 axSpA patients treated with anti-TNF therapy (≥5 years), 44 eyes from 22 axSpA patients treated with NSAIDs, and 66 eyes from 33 healthy control subjects. SS-OCT-A imaging was used to assess retinal thickness, ganglion cell layer thickness, retinal nerve fiber layer thickness, and the vessel densities of the superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC). Disease activity was assessed with ASDAS-CRP. Results: Both axSpA subgroups showed a significant expansion of the foveal avascular zone and reduced SCP and DCP densities compared to the controls. The CC vessel density was higher in axSpA patients than in healthy subjects. The anti-TNF group had a lower CC vascular density than the NSAIDs group. The disease duration correlated with a decreased central DCP density and increased paracentral SCP and CC densities. Conclusions: SS-OCT-A revealed subclinical retinal and choroidal changes in axSpA patients, highlighting the impact of chronic inflammation on the retinal vasculature. While anti-TNF therapy effectively controls systemic inflammation, it cannot completely prevent microvascular changes. Further studies are needed to assess the clinical relevance of these results.

Background: Ovarian cancers harboring inactivating mutations in BRCA1 or BRCA2 demonstrate increased sensitivity to poly (ADP-ribose) polymerase inhibitors (PARPis). BRCA1 promoter methylation could serve as a more precise biomarker for therapy response, as it reflects a dynamic mechanism, compared with genomic scarring, which remains persistent and lacks real-time prediction of sensitivity after prior lines of treatment. Additionally, the BRCA1 promoter methylation may provide a more precise biomarker for identifying homologous recombination deficiency compared to genomic scars. In this study, we describe the validation of a pyrosequencing method to assess BRCA1 promoter methylation status. Methods: Tumor DNA from high-grade serous ovarian carcinoma was tested targeting 11 CpG sites adjacent to the BRCA1 transcription start site. All cases had concordant results compared with TCGA methylation data or real-time PCR results. To determine the sensitivity of this assay, we performed a dilution series experiment using seven mixtures of methylated DNA and unmethylated genomic DNA (100%, 50%, 25%, 12.5%, 6.25%, 3.125%, and 1.56%). Results: We observed a high degree of correlation (R² = 0.9945) between predicted and observed results. Intra- and inter-run reproducibility was established by performing six cases in triplicate in the same run and in three different runs. Conclusions: By applying 10% as the cutoff for detection of methylation, the PyroMark Q24 pyrosequencing assay demonstrated 100% concordance across all the ovarian cancer cases included in this validation. This assay has been approved by the New York State Department of Health as a laboratory-specific assay for clinical use.