Diagnostics最新文献

Radical esophagectomy remains the only potentially curative option in the treatment of esophageal cancer. However, this procedure is burdened with high morbidity and mortality rates, even in high-volume centers. A tracheo- or bronchoesophageal fistula (TBF) is rare but is one of the most difficult life-threatening complications following an esophagectomy for cancer treatment. Several classifications have been proposed regarding the localization of a TBF, its etiology, and the timing of its occurrence; hence, no classification is universally accepted. However, one of the most common etiological explanations for the formation of a TBF is a prior esophagogastric anastomotic leak. Treatment options include a conservative approach, which usually combines several endoscopic methods. Surgical treatment is directed towards fistula closure with direct suturing or, more often, the usage of pediculated flaps. Here, we present a patient with late TBF following a minimally invasive esophagectomy, which was surgically solved in an atypical way. We believe that this type of repair may be useful in patients in whom pedunculated flaps are not an option.

Background and aims: Lynch syndrome (LS) carries a substantial lifetime risk of colorectal cancer which is currently mitigated by biennial colonoscopy surveillance. Paramount to the surveillance programme is the removal of adenomas before malignant transformation but there is an associated service burden and morbidity of repeated endoscopy. We investigated if faecal immunochemical testing (FIT) for faecal haemoglobin has the diagnostic performance to replace colonoscopy.

Methods: In this retrospective cohort study, patients due to undergo planned surveillance for LS between November 2020 and April 2022 were sent two FIT kits prior to colonoscopy. Test diagnostic performance of colorectal cancer (CRC), advanced and non-advanced adenoma detection was calculated for single and double FIT strategies. A faecal-Hb of 10 µg Hb/g was considered positive.

Results: In total, 78 patients, with 45 (57.7%) female, median age 52 years (IQR 41-63), completed at least one FIT and colonoscopy. The median time from FIT to colonoscopy was 47 days. A single FIT was positive in 7/30 cases of adenoma (2/3 advanced, 5/27 non-advanced). A total of 64 (82.1% of FIT1T returners) completed a second FIT. Using the greatest of the two FITs (FIT2TMAX) 8/26 (2/3 advanced, 4/23 non-advanced), patients with adenomas were identified. There were no cases of CRC. The sensitivity for adenoma detection was 23.3% and 23.1%, respectively.

Conclusions: In patients with LS awaiting colonoscopy, FIT has a low sensitivity for detecting adenomas and advanced adenomas. This is not improved by the addition of a second FIT test.

Objectives: The present study aimed to examine the role of two-dimensional shear wave elastography (SWE) in the assessment of the vascular wall of the carotid arteries and atherosclerotic plaques in patients with rheumatoid arthritis with moderate and low disease activity versus healthy controls. Methods: An observational case-control study was carried out at the University Medical Hospital "Kaspela" in Plovdiv, Bulgaria, from June 2023 to August 2024. This study included 24 patients with rheumatoid arthritis (RA) and 25 healthy controls. We employed two-dimensional SWE (2D-SWE) to examine the vessels around the plaques. The potential links with the degree of stenosis, plaque type, and cardiovascular risk were analyzed. Results: In the RA group, the 2D-SWE values showed significant positive correlations with the severity of the atherosclerotic plaques (rs = 0.461; 95% CI: 0.049 to 0.739; p = 0.023) and the degree of stenosis (rs = 0.920; 95% CI: 0.793 to 0.970; p < 0.001). Based on 2D-SWE, a ROC curve analysis distinguished higher severity plaques from lower severity plaques with an AUC = 0.818, 95% CI: 0.683 to 0.913. The optimal cut-off value of 2D-SWE > 32.40 kPa was associated with a sensitivity of 96%, a specificity of 56%, a positive predictive value (PPV) of 66.70%, and a negative predictive value (NPV) of 92.90%. Conclusion: Elastography can be an effective technique for assessing and stratifying atherosclerotic plaques in patients with RA, as well as for aiding in the early detection and subsequent prevention of future complications.

Background: Bayés syndrome is a recently identified condition that is defined by the presence of an interatrial block on a surface electrocardiogram, in addition to atrial arrhythmias such as atrial fibrillation, tachycardia, or left atrial flutter. This syndrome is linked to an increased risk of stroke, morbidity, and mortality. An interatrial block is a conduction delay between the right atrium and left atrium and can be recognized by a P wave duration >120 ms. It is known that P wave duration can estimate the size of the left atrium measured via echocardiography, which is a marker for stratifying cardiovascular risk. Our study aims to verify whether the duration of the P wave can estimate the volume of the left atrium measured by computed tomography in patients with an interatrial block. Methods: We included 105 patients with a sinus rhythm and a partial or advanced interatrial block (IAB) who underwent contrast-enhanced cardiac computed tomography (CT). The mean age was 62.2 ± 10.1 years, and 38% of the patients were women. Results: The mean P wave duration was 122.6 ± 11.4 ms in the partial IAB group and 150 ± 8.4 ms in the advanced IAB group (p < 0.01). The mean left atrial volume was 115 ± 39 mL in the partial IAB group and 142 ± 34 mL in the advanced IAB group (p = 0.001). P wave duration was longer in patients with an advanced as opposed to partial interatrial block. Left atrial volume and LAVI were higher in patients with an advanced as opposed to partial interatrial block. Conclusions: All the patients (100%) with an advanced IAB had a dilated left atrium. P wave duration can accurately estimate LA volume in patients with an IAB using the formula: LA volume = 0.6 × P wave + 46 mL.

Background: High hypericin-loaded polyvinylpyrrolidone (HHL-PVP) constitutes a novel approach to utilize the promising characteristics of hypericin for photodynamic diagnosis (PDD) and therapy (PDT) of brain tumors in an orally bioavailable formulation. The aim of this study was to investigate the ability of a Complementary Metal-Oxide-Semiconductor (CMOS) camera-based fluorescence imaging system to selectively visualize HHL-PVP in glioblastoma tissue even in the presence of 5-Aminolvevulinic acid (5-ALA) induced fluorescence, which is widely utilized in brain tumor surgery.

Methods: We applied a previously established system with a non-hypericin specific filter for 5-ALA fluorescence visualization and a newly introduced hypericin-specific filter at 575-615 nm that transmits the spectrum of hypericin, but not 5-ALA fluorescence. Glioblastoma specimens obtained from 12 patients (11 with preoperative 5-ALA intake) were ex vivo incubated with HHL-PVP. Subsequently, fluorescence intensity and lifetime changes using both the non-hypericin specific filter and hypericin-specific filter were measured before and after HHL-PVP incubation and after subsequent rinsing.

Results: While no significant differences in fluorescence signal were observed using the non-hypericin specific filter, statistically significant increases in fluorescence intensity (p = 0.001) and lifetime (p = 0.028) after HHL-PVP incubation were demonstrated using the hypericin-specific filter. In consequence, specimens treated with HHL-PVP could be identified according to the fluorescence signal with high diagnostic sensitivity (87.5%) and specificity (100%).

Conclusions: Our CMOS camera-based system with a hypericin-specific filter is capable of selectively visualizing hypericin fluorescence in glioblastoma tissue after ex vivo HHL-PVP incubation. In the future, this technique could facilitate clinical investigations of HHL-PVP for PDD and PDT while maintaining the current standard of care with 5-ALA guidance.

Skin and superficial tissue disorders (SSTDs) are some of the most common diseases affecting humans [...].

Objectives: The aim of this study was to evaluate the diagnostic performance, image quality, and inter- and intra-observer agreement of the 3D T1 multi-echo fast field echo (mFFE) sequence in cervico-thoraco-lumbar vertebral fractures compared with conventional computed tomography (CT) as the gold standard.

Methods: We conducted a prospective single-centre study including 29 patients who underwent spinal magnetic resonance imaging (MRI) at the surgeon's request, in addition to CT for vertebral fracture assessment and classification. A 3D T1 mFFE sequence was added to the standard MRI protocol. Consecutively, two readers analyzed the 3D mFFE sequence alone, the 3D mFFE sequence with the entire MRI protocol, including the STIR and T1 sequences, and, finally, the CT images in random order and 1 month apart. A standardized assessment was performed to determine the presence or absence of a fracture, its location, its classification according to the Genant and AO classifications for traumatic and osteoporotic fractures, respectively, the loss of height of the anterior and posterior walls of the vertebral body, and the presence of concomitant disco-ligamentous lesions. Contingency tables, intraclass correlation coefficients, and Cohen's kappa tests were used for statistical analysis.

Results: A total of 25 fractures were recorded (48% cervical, 20% thoracic, and 32% lumbar), of which 52% were classified A, according to the AO classification system. The quality of the 3D mFFE image was good or excellent in 72% of cases. Inter-observer agreement was near perfect (0.81-1) for vertebral body height and for AO and Genant classifications for all modalities. Intra-observer agreement was strong-to-near perfect between CT and the 3D mFFE sequence. Regarding the diagnostic performance of the 3D mFFE sequence, the sensitivity was 0.9200 and 0.9600, the specificity was 0.9843 and 0.9895, and the accuracy was 0.9861 and 0.9769 for Readers 1 and 2, respectively. In addition, up to 40% of intervertebral disc lesions and 33% of ligamentous lesions were detected by the 3D mFFE sequence compared to CT, allowing four AO type A fractures to be reclassified as type B.

Conclusions: The 3D mFFE sequence allows accurate diagnosis of vertebral fractures, with superiority over CT in detecting disco-ligamentous lesions and a more precise classification of fractures, which can prompt clinicians to adapt their management despite an image quality that still requires improvement in some cases.

Key points: Vertebral fractures and disco-ligamentous lesions can be assessed using CT-like MRI sequences, with 3D T1 mFFE being superior to CT for the detection of disco-ligamentous lesions. CT-like images using the 3D T1 mFFE sequence improve the diagnostic accuracy of bone structures in MRI.

Background/objectives: The diagnosis of Autism Spectrum Disorders (ASD) is undergoing significant revisions, impacting prevalence estimates in the general population. Moreover, the rise of a dimensional perspective on psychopathology has broadened our understanding of autism, recognizing that subthreshold autistic features extend throughout the general population. However, there remains a limited understanding of the prevalence of ASD traits in individuals with psychiatric disorders, particularly in young adults, who are at an age where several mental health conditions emerge. The aim of this study was to evaluate the prevalence of ASD traits in a sample of young adults (18-24 years old) attending a generalized mental health outpatient clinic.

Methods: A total of 259 young adult patients completed the self-report screening questionnaires Autism Quotient (AQ) and Ritvo Autism and Asperger Diagnostic Scale-Revised (RAADS-R).

Results: A total of 16.2% of our sample scored above the cut-off in both scales; this percentage decreased to 13.13% when restricting the RAADS-R cut-off to >119, as suggested for clinical samples. The association with sociodemographic features is discussed.

Conclusions: We argue that screening for autistic traits should be integrated into the assessment of young adults presenting with nonspecific psychiatric symptoms or psychological distress. Although there is ongoing debate over the use of self-report screening tools, a positive result on both the AQ and RAADS-R should prompt clinicians to pursue a comprehensive diagnostic evaluation using structured or semi-structured interviews.

Background: Identification of specific urine metabolic profiles for patients diagnosed with papillary thyroid carcinoma (TC) vs. benign nodules (B) to identify specific biomarkers and altered pathways compared to those of healthy controls (C).

Methods: Patient urine samples were collected, before surgery and after a histological confirmation of TC (n = 30) and B (n = 30), in parallel with sample collection from healthy controls (n = 20). The untargeted and semi-targeted metabolomic protocols were applied using UPLC-QTOF-ESI⁺-MS analysis, and the statistical analysis was performed using the Metaboanalyst 6.0 platform. The results for the blood biomarkers, previously published, were compared with the data obtained from urine sampling using the Venny algorithm and multivariate statistics.

Results: Partial least squares discrimination, including VIP values, random forest graphs, and heatmaps (p < 0.05), together with biomarker analysis (AUROC ranking) and pathway analysis, suggested a specific model for the urinary metabolic profile and pathway alterations in TC and B vs. C, based on 190 identified metabolites in urine that were compared with the serum metabolites. By semi-targeted metabolomics, 10 classes of metabolites, considered putative biomarkers, were found to be responsible for specific alterations in the metabolic pathways, from polar molecules to lipids. Specific biomarkers for discrimination were identified in each class of metabolites that were either upregulated or downregulated when compared to those of the controls.

Conclusions: The lipidomic window was the most relevant for identifying biomarkers related to thyroid cancer and benign conditions, since this study detected a stronger involvement of lipids and selenium-related molecules for metabolic discrimination.

Background/Objectives: Metastatic colorectal cancer remains a fatal disease, with a 5-year survival rate lower than 15%. The most common metastatic sites are the lungs and the liver, while skin metastases are very rare and often indicate a poor prognosis with a lower survival rate. Methods. Herein, we present the clinical case of a 62-year-old female patient with rectal cancer metastases to the skin of the anogenital and abdominal regions, diagnosed 2 years after completion of treatment of the underlying disease. Results: Histological examination of the skin lesions revealed adenocarcinoma, and expression of the same immunohistochemical markers was also found in the primary tumor and in the cutaneous metastases. However, next-generation sequencing demonstrated differences in the mutational profiles of the primary tumor and metastasis to the skin. Somatic mutations in the APC, TP53, and PTPN11 genes were revealed in primary rectal adenocarcinoma, but another pathogenic TP53 mutation and a frameshift variant in the DYNC1I1 gene were found in cutaneous metastases. The patient underwent several courses of FOLFOX6 chemotherapy in combination with bevacizumab, but the treatment was unsuccessful. An analysis of 50 clinical cases from the literature concerning various manifestations of cutaneous metastases of rectal cancer showed a median survival of 8.5 months from the time of detection of the skin lesions. Conclusions: In this regard, careful skin examination of patients with rectal cancer and timely detection of cutaneous metastases are essential steps in the follow-up of patients who have undergone treatment of the primary tumor.