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BACKGROUND: Magnetic resonance elastography (MRE) can quantify tissue biomechanics noninvasively, including pathological hepatic states like metabolic dysfunction-associated steatohepatitis. PURPOSE: To compare the performance of 2D/3D-MRE using the gravitational (GT) transducer concept with the current commercial acoustic (AC) solution utilizing a 2D-MRE approach. Additionally, quality index markers (QIs) were proposed to identify image pixels with sufficient quality for reliably estimating tissue biomechanics. STUDY TYPE: Prospective. POPULATION: One hundred seventy participants with suspected or confirmed liver disease (median age, 57 years [interquartile range (IQR), 46-65]; 66 females), and 11 healthy volunteers (median age, 31 years [IQR, 27-34]; 5 females). FIELD STRENGTH/SEQUENCE: Participants were scanned twice at 1.5 T and 60 Hz vibration frequency: first, using AC-MRE (2D-MRE, spin-echo EPI sequence, 11 seconds breath-hold), and second, using GT-MRE (2D- and 3D-MRE, gradient-echo sequence, 14 seconds breath-hold). ASSESSMENT: Image analysis was performed by four independent radiologists and one biomedical engineer. Additionally, superimposed analytic plane shear waves of known wavelength and attenuation at fixed shear modulus were used to propose pertinent QIs. STATISTICAL TESTS: Spearman's correlation coefficient (r) was applied to assess the correlation between modalities. Interreader reproducibility was evaluated using Bland-Altman bias and reproducibility coefficients. P-values <0.05 were considered statistically significant. RESULTS: Liver stiffness quantified via GT-2D/3D correlated well with AC-2D (r ≥ 0.89 [95% CI: 0.85-0.92]) and histopathological grading (r ≥ 0.84 [95% CI: 0.72-0.91]), demonstrating excellent agreement in Bland-Altman plots and between readers (κ ≥ 0.86 [95% CI: 0.81-0.91]). However, GT-2D showed a bias in overestimating stiffness compared to GT-3D. Proposed QIs enabled the identification of pixels deviating beyond 10% from true stiffness based on a combination of total wave amplitude, temporal sinusoidal nonlinearity, and wave signal-to-noise ratio for GT-3D. CONCLUSION: GT-MRE represents an alternative to AC-MRE for noninvasive liver tissue characterization. Both GT-2D and 3D approaches correlated strongly with the established commercial approach, offering advanced capabilities in abdominal imaging compared to AC-MRE. EVIDENCE LEVEL: 1 TECHNICAL EFFICACY: Stage 2.
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PURPOSE: Recent advancements in medical imaging have transformed diagnostic assessments, offering exciting possibilities for extracting biomarker-based information. This study aims to investigate the capabilities of a machine learning classifier that incorporates dual-energy computed tomography (DECT) radiomics. The primary focus is on discerning and predicting outcomes related to pulmonary embolism (PE). METHODS: The study included 131 participants who underwent pulmonary artery DECT angiography between January 2015 and March 2022. Among them, 104 patients received the final diagnosis of PE and 27 patients served as a control group. A total of 107 radiomic features were extracted for every case based on DECT imaging. The dataset was divided into training and test sets for model development and validation. Stepwise feature reduction identified the most relevant features, which were used to train a gradient-boosted tree model. Receiver operating characteristics analysis and Cox regression tests assessed the association of texture features with overall survival. RESULTS: The trained machine learning classifier achieved a classification accuracy of 0.94 for identifying patients with acute PE with an area under the receiver operating characteristic curve of 0.91. Radiomics features could be valuable for predicting outcomes in patients with PE, demonstrating strong prognostic capabilities in survival prediction (c-index, 0.991 [0.979-1.00], p = 0.0001) with a median follow-up of 130 days (IQR, 38-720). Notably, the inclusion of clinical or DECT parameters did not enhance predictive performance. CONCLUSION: In conclusion, our study underscores the promising potential of leveraging radiomics on DECT imaging for the identification of patients with acute PE and predicting their outcomes. This approach has the potential to improve clinical decision-making and patient management, offering efficiencies in time and resources by utilizing existing DECT imaging without the need for an additional scoring system.
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Angiografía por Tomografía Computarizada , Aprendizaje Automático , Embolia Pulmonar , Humanos , Embolia Pulmonar/diagnóstico por imagen , Masculino , Femenino , Pronóstico , Persona de Mediana Edad , Angiografía por Tomografía Computarizada/métodos , Anciano , Biomarcadores/sangre , Valor Predictivo de las Pruebas , Estudios RetrospectivosRESUMEN
BACKGROUND: Cancer is a well-known risk factor for venous thromboembolism (VTE). A combined strategy of D-dimer testing and clinical pre-test probability is usually used to exclude VTE. However, its effectiveness is diminished in cancer patients due to reduced specificity, ultimately leading to a decreased clinical utility. This review article seeks to provide a comprehensive summary of how to interpret D-dimer testing in cancer patients. METHODS: In accordance with PRISMA standards, literature pertaining to the diagnostic and prognostic significance of D-dimer testing in cancer patients was carefully chosen from reputable sources such as PubMed and the Cochrane databases. RESULTS: D-dimers have not only a diagnostic value in ruling out VTE but can also serve as an aid for rule-in if their values exceed 10-times the upper limit of normal. This threshold allows a diagnosis of VTE in cancer patients with a positive predictive value of more than 80%. Moreover, elevated D-dimers carry important prognostic information and are associated with VTE reoccurrence. A gradual increase in risk for all-cause death suggests that VTE is also an indicator of biologically more aggressive cancer types and advanced cancer stages. Considering the lack of standardization for D-dimer assays, it is essential for clinicians to carefully consider the variations in assay performance and the specific test characteristics of their institution. CONCLUSIONS: Standardizing D-dimer assays and developing modified pretest probability models specifically for cancer patients, along with adjusted cut-off values for D-dimer testing, could significantly enhance the accuracy and effectiveness of VTE diagnosis in this population.
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Productos de Degradación de Fibrina-Fibrinógeno , Neoplasias , Humanos , Neoplasias/sangre , Neoplasias/complicaciones , Neoplasias/diagnóstico , Valor Predictivo de las Pruebas , Factores de Riesgo , Tromboembolia Venosa/sangre , Tromboembolia Venosa/diagnóstico , Tromboembolia Venosa/prevención & control , Bioensayo/normas , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: The advent of advanced computed tomography (CT) technology and the field of radiomics has opened up new avenues in diagnostic assessments. Increasingly, there is substantial evidence advocating for the incorporation of quantitative imaging biomarkers in the clinical decision-making process. This study aimed to examine the correlation between D-dimer levels and thrombus size in acute pulmonary embolism (PE) combining dual-energy CT (DECT) and radiomics and to investigate the diagnostic utility of a machine learning classifier based on dual-energy computed tomography (DECT) radiomics for identifying patients with a complicated course, defined as at least hospitalization at IMC. METHODS: The study was conducted including 136 participants who underwent pulmonary artery CT angiography from January 2015 to March 2022. Based on DECT imaging, 107 radiomic features were extracted for each patient using standardized image processing. After dividing the dataset into training and test sets, stepwise feature reduction based on reproducibility, variable importance and correlation analyses were performed to select the most relevant features; these were used to train and validate the gradient-boosted tree models.Receiver operating characteristics (ROC) analysis was utilized to evaluate the association between volumetric, laboratory data and adverse outcomes. RESULTS: In the central PE group, we observed a significant correlation between thrombus volumetrics and D-dimer levels (p = 0.0037), as well as between thrombus volumetrics and hospitalization at the Intermediate Care Unit (IMC) (p = 0.0001). In contrast, no statistically significant differences were identified in thrombus sizes between patients who experienced complications and those who had a favorable course (p = 0.3162). The trained machine learning classifier achieved an accuracy of 61% and 55% in identifying patients with a complicated course, as indicated by an area under the ROC curve of 0.63 and 0.58. CONCLUSION: In conclusion, our findings indicate a positive correlation between D-dimer levels and central PE's pulmonary embolic burden. Thrombus volumetrics may serve as an indicator for complications and outcomes in acute PE patients. Thus, thrombus volumetrics, as opposed to D-dimers, could be an additional marker for evaluating embolic disease severity. Moreover, DECT-derived radiomic feature models show promise in identifying patients with a complicated course, such as hospitalization at IMC.
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Angiografía por Tomografía Computarizada , Productos de Degradación de Fibrina-Fibrinógeno , Hospitalización , Embolia Pulmonar , Humanos , Embolia Pulmonar/diagnóstico por imagen , Embolia Pulmonar/sangre , Femenino , Masculino , Productos de Degradación de Fibrina-Fibrinógeno/metabolismo , Persona de Mediana Edad , Angiografía por Tomografía Computarizada/métodos , Trombosis/diagnóstico por imagen , Trombosis/sangre , Aprendizaje Automático , Biomarcadores/sangre , Anciano , Enfermedad Aguda , Reproducibilidad de los Resultados , Estudios Retrospectivos , Adulto , Tomografía Computarizada por Rayos X , RadiómicaRESUMEN
Otofaciocervical syndrome (OFCS) is an autosomal recessively inherited disorder characterized by facial dysmorphism, external ear anomalies with preauricular pits and hearing impairment, branchial cysts or fistulas, anomalies of the vertebrae and the shoulder girdle, and mild intellectual disability. In a large consanguineous family with OFCS from Turkey, we performed whole-exome sequencing (WES) of a single pooled DNA sample of four affected individuals. Filtering for variants with a percentage of alternate reads ≥ 90 % and a coverage of at least five reads identified only a single novel homozygous variant, c.497G>T, located in PAX1 that co-segregated with the disease in the family. PAX1 encodes a transcription factor with a critical role in pattern formation during embryogenesis in vertebrates. The mutation is predicted to substitute the glycine at position 166 to valine (p.G166V) within the highly conserved paired-box domain of the PAX1 protein. We performed a dual luciferase reporter assay to examine the transactivation of a regulatory sequence in the Nkx3-2 promoter region, which is a direct target of mouse Pax1 transcriptional regulation. We observed a significantly reduced transactivation in HEK293T cells overexpressing Pax1(G157V) in comparison to Pax1(WT) expressing cells, indicating a reduced DNA-binding affinity of the mutant protein. Taken together, our results show that the strategy of pooling DNA is a powerful, cost-effective application for WES in consanguineous families and establish PAX1 as a new disease-causing gene for OFCS and as part of the EYA-DACH-SIX-PAX network, important in early embryogenesis.
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Síndrome Branquio Oto Renal/genética , Factores de Transcripción Paired Box/genética , Secuencia de Aminoácidos , Animales , Femenino , Regulación del Desarrollo de la Expresión Génica , Células HEK293 , Proteínas de Homeodominio/genética , Proteínas de Homeodominio/metabolismo , Humanos , Masculino , Ratones , Datos de Secuencia Molecular , Mutación , Factores de Transcripción Paired Box/metabolismo , Linaje , Regiones Promotoras Genéticas , Análisis de Secuencia de ADN , Factores de Transcripción/genética , Factores de Transcripción/metabolismo , TurquíaRESUMEN
OBJECTIVES: To investigate the corneal biomechanical properties of keratoconic eyes following penetrating keratoplasty (PKP). MATERIALS AND METHODS: Thirty-five patients (70 eyes) were enrolled to this prospective study. Operated and contralateral keratoconic eyes were defined as Group 1 and 2, respectively. All patients underwent ophthalmological examination and measurements of corneal biomechanical properties by Ocular Response Analyzer (ORA), intraocular pressure (IOP) by Goldmann applanation tonometry, and central corneal thickness (CCT) by Pentacam. Shapiro-Wilk W test was performed to test normality of the data. The statistical significance was evaluated with the paired t-test and Wilcoxon signed ranks test. Pearson correlation and Spearman rho tests were used for correlation analysis. RESULTS: The average age and male/female ratio were 31.34±11.65 (15-60) years and 21/14, respectively. The mean values of the data obtained from Group 1 and 2 respectively were: corneal hysteresis (CH): 9.35±1.66, 8.18±1.84 mmHg (p=0.013), corneal resistance factor (CRF): 9.48±1.96, 7.14±2.05 mmHg (p<0.001), IOPcc: 16.90±4.32, 14.26±3.69 mmHg (p=0.004), IOPg: 15.45±4.61, 10.91±3.97 mmHg (p<0.001), IOPapl: 14.26±3.11, 13.09±2.54 mmHg (p=0.046), and central corneal thickness (CCT): 545.64±60.82, 442.60±68.14 µM (p<0.001). The positive correlation between CH and CRF was moderate (r=0.444) in Group 1 and strong (r=0.770) in Group 2. There was a moderate negative correlation between CH and IOPcc in both groups (r=-0.426, r=-0.423), but CH was not correlated with IOPg or IOPapl in either group. There were weak to strong positive correlations between CRF and all IOP values in both groups. There was no correlation between CRF and CCT in Group 1 (r=0.075) and a very weak correlation in Group 2 (r=0.237). Only IOPcc and IOPg were strongly correlated in both groups. CONCLUSION: Better understanding of corneal biomechanical properties is essential for elucidating the pathophysiology and diagnosis of several corneal pathologies such as keratoconus. The biomechanical properties of keratoconic eyes seem to be closer to normal values after PKP.
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Herein, an awkward case of globe perforation with a bullet-entering from the right posterior scapular region and leaving the body from the right orbit through the eye - is reported. Route of the bullet could be devastating - as it passed through the neck and the maxillofacial region-however by chance no vital damage occurred. Its path was assessed by plain radiography and computed tomography scans. Sometimes prediction of the trajectory is very difficult without additional radiological investigations. Especially, in the case of any high velocity projectile wounding, physician must be aware of the fact that the bullet's course will not be a linear but most probably a complicated one. Prognosis of the injury depends on the path of the bullet or shrapnel fragment, close clinical observation, an open-minded approach, and the multidisciplinary care. Moreover, even the crime investigation might be needed.
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Lesiones Oculares Penetrantes/diagnóstico , Traumatismo Múltiple , Órbita/lesiones , Escápula/lesiones , Heridas por Arma de Fuego/diagnóstico , Adolescente , Humanos , Masculino , Órbita/diagnóstico por imagen , Escápula/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Índices de Gravedad del TraumaRESUMEN
OBJECTIVES: As the deceased-donor organ shortage has become a common problem, we sought to investigate the attitudes of people in Izmir, Turkey, concerning corneal donation and transplant. MATERIALS AND METHODS: A questionnaire designed to collect demographic data and determine attitudes concerning corneal donation and transplant, based on 9 questions, was prepared and administered to 1000 people that presented to our outpatient clinics in 2009. RESULTS: Among the respondents, 54.7% were willing to donate their corneas, while 84.3% were willing to receive corneas, and 15.4% were opposed corneal transplant. Attitudes toward corneal donation were significantly more positive in those with more education than in those with less education. Among participants, the ratio of a positive attitude toward donation significantly increased with decreasing age (P < .001), with a maximum of 66.7% among participants aged 18-24 years and 46.2% among those aged > 65 years. The positive attitude increased with increasing level of education. The donor parameters reported to be of the most importance were religion, nationality, country, ethnicity, and sex (31.3%, 25.1%, 23.5%, 22.8%, and 20.8%). CONCLUSIONS: The primary factor associated with negative attitudes toward organ/tissue donation and receipt is low education. This result suggests that educating and motivating the public might help increase the rate of consent for organ and tissue donation and transplant.