Search Results (10)

Background/Objectives: Two-dimensional echocardiography (2D echo) is widely used for assessing left ventricular ejection fraction (LVEF). This single-center comparative study aims to evaluate the accuracy of LVEF measurements obtained using the AI-assisted handheld ultrasound device Kosmos against cardiac magnetic resonance (CMR), the current gold standard. Methods: A total of 49 adult patients undergoing clinically indicated CMR were prospectively enrolled. AI-based LVEF measurements were compared with CMR using the Wilcoxon signed-rank test, Pearson correlation, multivariable linear regression, and Bland–Altman analysis. All analyses were performed using STATA v18.0. Results: Median LVEF was 57% (CMR) vs. 55% (AI-Echo), with no significant difference (p = 0.51). Strong correlation (r = 0.99) and minimal bias (1.1%) were observed. Conclusions: The Kosmos AI-based autoEF algorithm demonstrated excellent agreement with CMR-derived LVEF values. Its speed and automation make it promising for bedside assessment in emergency departments, intensive care units, and outpatient clinics. This study aims to fill the gap in current clinical evidence by evaluating, for the first time, the agreement between LVEF measurements obtained via Kosmos’ AI-assisted autoEF and those from cardiac MRI (CMR), the gold standard for ventricular function assessment. This comparison is critical for validating the reliability of portable AI-driven echocardiographic tools in real-world clinical practice. However, these findings derive from a selected population at a single Italian center and should be validated in larger, diverse cohorts before assuming global generalizability. Full article

Aortic stenosis (AS) is the most prevalent degenerative valvular disease in western countries. Transthoracic echocardiography (TTE) is considered, nowadays, to be the main imaging technique for the work-up of AS due to high availability, safety, low cost, and excellent capacity to evaluate aortic valve (AV) morphology and function. Despite the diagnosis of AS being considered straightforward for a very long time, based on high gradients and reduced aortic valve area (AVA), many patients with AS represent a real dilemma for cardiologist. On the one hand, the acoustic window may be inadequate and the TTE limited in some cases. On the other hand, a growing body of evidence shows that patients with low gradients (due to systolic dysfunction, concentric hypertrophy or coexistence of another valve disease such as mitral stenosis or regurgitation) may develop severe AS (low-flow low-gradient severe AS) with a similar or even worse prognosis. The use of complementary imaging techniques such as transesophageal echocardiography (TEE), multidetector computed tomography (MDTC), or cardiac magnetic resonance (CMR) plays a key role in such scenarios. The aim of this review is to summarize the diagnostic challenges associated with patients with AS and the advantages of a comprehensive multimodality cardiac imaging (MCI) approach to reach a precise grading of the disease, a crucial factor to warrant an adequate management of patients. Full article

Mastocytosis is a clinically heterogenous, usually acquired disease of the mast cells with a survival time that depends on the time of onset. It ranges from skin-limited to systemic disease, including indolent and more aggressive variants. The presence of the oncogenic KIT p. D816V gene somatic mutation is a crucial element in the pathogenesis. However, further epigenetic regulation may also affect the expression of genes that are relevant to the pathology. Epigenetic alterations are responsible for regulating the expression of genes that do not modify the DNA sequence. In general, it is accepted that DNA methylation inhibits the binding of transcription factors, thereby down-regulating gene expression. However, so far, little is known about the epigenetic factors leading to the clinical onset of mastocytosis. Therefore, it is essential to identify possible epigenetic predictors, indicators of disease progression, and their link to the clinical picture to establish appropriate management and a therapeutic strategy. The aim of this study was to analyze genome-wide methylation profiles to identify differentially methylated regions (DMRs) in patients with mastocytosis compared to healthy individuals, as well as the genes located in those regulatory regions. Genome-wide DNA methylation profiling was performed in peripheral blood collected from 80 adult patients with indolent systemic mastocytosis (ISM), the most prevalent subvariant of mastocytosis, and 40 healthy adult volunteers. A total of 117 DNA samples met the criteria for the bisulfide conversion step and microarray analysis. Genome-wide DNA methylation analysis was performed using a MethylationEPIC BeadChip kit. Further analysis was focused on the genomic regions rather than individual CpG sites. Co-methylated regions (CMRs) were assigned via the CoMeBack method. To identify DMRs between the groups, a linear regression model with age as the covariate on CMRs was performed using Limma. Using the available data for cases only, an association analysis was performed between methylation status and tryptase levels, as well as the context of allergy, and anaphylaxis. KEGG pathway mapping was used to identify genes differentially expressed in anaphylaxis. Based on the DNA methylation results, the expression of 18 genes was then analyzed via real-time PCR in 20 patients with mastocytosis and 20 healthy adults. A comparison of the genome-wide DNA methylation profile between the mastocytosis patients and healthy controls revealed significant differences in the methylation levels of 85 selected CMRs. Among those, the most intriguing CMRs are 31 genes located within the regulatory regions. In addition, among the 10 CMRs located in the promoter regions, 4 and 6 regions were found to be either hypo- or hypermethylated, respectively. Importantly, three oncogenes—FOXQ1, TWIST1, and ERG—were identified as differentially methylated in mastocytosis patients, for the first time. Functional annotation revealed the most important biological processes in which the differentially methylated genes were involved as transcription, multicellular development, and signal transduction. The biological process related to histone H2A monoubiquitination (GO:0035518) was found to be enriched in association with higher tryptase levels, which may be associated with more aberrant mast cells and, therefore, more atypical mast cell disease. The signal in the BAIAP2 gene was detected in the context of anaphylaxis, but no significant differential methylation was found in the context of allergy. Furthermore, increased expression of genes encoding integral membrane components (GRM2 and KRTCAP3) was found in mastocytosis patients. This study confirms that patients with mastocytosis differ significantly in terms of methylation levels in selected CMRs of genes involved in specific molecular processes. The results of gene expression profiling indicate the increased expression of genes belonging to the integral component of the membrane in mastocytosis patients (GRM2 and KRTCAP3). Further work is warranted, especially in relation to the disease subvariants, to identify links between the methylation status and the symptoms and novel therapeutic targets. Full article

Osteonecrosis of the femoral head (ONFH) is a common disabling disease. Copper has positive effects on cells that regulate bone metabolism. However, the relationship between copper metabolism (CM) and steroid-induced ONFH (SONFH) remains unclear. The GSE123568 dataset was downloaded from the Gene Expression Omnibus. The differentially expressed CM-related SONFH genes (DE-CMR-SONFHGs) were identified via differential analysis and weighted gene coexpression network analysis (WGCNA). Receiver operating characteristic (ROC) analysis was performed for the predictive accuracy of key genes. Targeting drugs and the copper death-related genes (CDRGs) relevant to key genes were investigated. The bioinformatics results were confirmed via quantitative real-time polymerase chain reaction (qRT–PCR) and Western blot (WB) analysis. Two out of 106 DE-CMR-SONFHGs were identified as key genes (PNP and SLC2A1), which had diagnostic value in distinguishing SONFH from control samples and were related to various immune cell infiltrations. Eleven PMP-targeting drugs and five SLC2A1-targeting drugs were identified. The qRT–PCR, as well as WB, results confirmed the downregulation PNP and SLC2A1 and high expression of the CDRGs DLD, PDHB, and MTF1, which are closely related to these two key genes. In conclusion, PNP and SLC2A1 were identified as key genes related to SONFH and may provide insights for SONFH treatment. Full article

The COVID-19 pandemic has impacted the whole world profoundly. For managing the pandemic, the ability to forecast daily COVID-19 case counts would bring considerable benefit to governments and policymakers. In this paper, we propose to leverage aggregate mobility statistics collected from Google’s Community Mobility Reports (CMRs) toward forecasting future COVID-19 case counts. We utilize features derived from the amount of daily activity in different location categories such as transit stations versus residential areas based on the time series in CMRs, as well as historical COVID-19 daily case and test counts, in forecasting future cases. Our method trains optimized regression models for different countries based on dynamic and data-driven selection of the feature set, regression type, and time period that best fit the country under consideration. The accuracy of our method is evaluated on 13 countries with diverse characteristics. Results show that our method’s forecasts are highly accurate when compared to the real COVID-19 case counts. Furthermore, visual analysis shows that the peaks, plateaus and general trends in case counts are also correctly predicted by our method. Full article

Background: The efficacy of enzyme replacement therapy (ERT) in mobilizing globotryaosylceramide (GB-3) from Fabry cardiomyocytes is limited. The mechanism involved is still obscure. Methods: Assessment of M6Pr, M6Pr-mRNA, and Ubiquitin has been obtained by Western blot analysis and real-time PCR of frozen endomyocardial biopsy samples, from 17 pts with FD, various degree of left ventricular hypertrophy, and maximal wall thickening (MWT) from 11.5 and 20 mm. The diagnosis and severity of FDCM followed definitions of GLA mutation, α-galactosidase A enzyme activity, cardiac magnetic resonance, and left ventricular endomyocardial biopsy with the quantification of myocyte hypertrophy and the extent of Gb-3 accumulation. All patients have received alpha or beta agalsidase for ≥3 years without a reduction in LV mass nor an increase in T1 mapping at CMR. Controls were surgical biopsies from 15 patients undergoing mitral valve replacement. Results: Protein analysis showed mean M6Pr in FDCM to be 5.4-fold lower than in a normal heart (4289 ± 6595 vs. 23,581 ± 4074, p = 0.0996) (p < 0.001): specifically, 9-fold lower in males, p = 0.009, (p < 0.001) and 3-fold lower in females, p = 0.5799, (p < 0.001) showing, at histology, a mosaic of normal and diseased cells. M6Pr-mRNA expression was normal, while ubiquitin showed an increase of 4.6 fold vs. controls (13,284 ± 1723 vs. 2870 ± 690, p = 0.001) suggesting that ubiquitin-dependent post-translational degradation is likely responsible for the reduction of M6Pr in FDCM. Conclusion: M6Pr expression is remarkably reduced in FDCM as a likely result of post-translational degradation. This may explain the reduced efficacy of ERT and be a therapeutic target for the enhancement of ERT activity. Full article

A high-throughput instrument to measure the full spectral properties of biochemical agents is necessary for fast screening in fields such as medical tests, environmental monitoring, and food analysis. However, this need has currently not been fully met by the commercial microplate reader (CMR). In this study, we have developed an automated high-throughput efficient microplate reader (AHTEMR) platform by combining a spectrometer and high-precision ball screw two-dimensional motion slide together, for high-throughput and full-spectrum-required biochemical assays. A two-dimensional slide working on a ball screw was driven by a stepper motor with a custom-designed master control circuit and used as a motion system of the AHTEMR platform to achieve precise positioning and fast movement of the microplate during measurements. A compact spectrometer was coupled with an in-house designed optical pathway system and used to achieve rapid capture of the full spectral properties of biochemical agents. In a performance test, the AHTEMR platform successfully measured the full spectral absorbance of bovine serum albumin (BSA) and glucose solution in multiple wells of the microplate within several minutes and presented the real-time full spectral absorbance of BSA and glucose solution. Compared with the CMR, the AHTEMR is 79 times faster in full-spectrum measurements and 2.38 times more sensitive at the optimal wavelength of 562 nm. The rapid measurement also demonstrated the great capacity of the AHTEMR platform for screening out the best colorimetric wavelengths for tests of BSA and glucose development, which will provide a promising approach to achieving high-throughput and full-spectrum-required biochemical assays. Full article

(1) Background: Segmented Cartesian Cardiovascular magnetic resonance (CMR) often fails to deliver robust assessment of cardiac function in patients with arrhythmia. We aimed to assess the performance of a tiny golden-angle spiral real-time CMR sequence at 1.5 T for left-ventricular (LV) volumetry in patients with irregular heart rhythm; (2) Methods: We validated the real-time sequence against the standard breath-hold segmented Cartesian sequence in 32 patients, of whom 11 presented with arrhythmia. End-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), and ejection fraction (EF) were assessed. In arrhythmic patients, real-time and standard Cartesian acquisitions were compared against a reference echocardiographic modality; (3) Results: In patients with sinus rhythm, good agreements and correlations were found between the segmented and real-time methods, with only minor, non-significant underestimation of EDV for the real-time sequence (135.95 ± 30 mL vs. 137.15 ± 31, p = 0.164). In patients with arrhythmia, spiral real-time CMR yielded superior image quality to the conventional segmented imaging, allowing for excellent agreement with the reference echocardiographic volumetry. In contrast, in this cohort, standard Cartesian CMR showed significant underestimation of LV-ESV (106.72 ± 63.51 mL vs. 125.47 ± 72.41 mL, p = 0.026) and overestimation of LVEF (42.96 ± 10.81% vs. 39.02 ± 11.72%, p = 0.039); (4) Conclusions: Real-time spiral CMR improves image quality in arrhythmic patients, allowing reliable assessment of LV volumetry. Full article

Background and objective: Cardiac magnetic resonance (CMR) is a key tool for cardiac work-up. However, arrhythmia can be responsible for arrhythmia-related artifacts (ARA) and increased scan time using segmented sequences. The aim of this study is to evaluate the effect of cardiac arrhythmia on image quality in a comparison of a compressed sensing real-time (CS_rt) cine sequence with the reference prospectively gated segmented balanced steady-state free precession (Cine_ref) technique regarding ARA. Methods: A total of 71 consecutive adult patients (41 males; mean age = 59.5 ± 20.1 years (95% CI: 54.7–64.2 years)) referred for CMR examination with concomitant irregular heart rate (defined by an RR interval coefficient of variation >10%) during scanning were prospectively enrolled. For each patient, two cine sequences were systematically acquired: first, the reference prospectively triggered multi-breath-hold Cine_ref sequence including a short-axis stack, one four-chamber slice, and a couple of two-chamber slices; second, an additional single breath-hold CS_rt sequence providing the same slices as the reference technique. Two radiologists independently assessed ARA and image quality (overall, acquisition, and edge sharpness) for both techniques. Results: The mean heart rate was 71.8 ± 19.0 (SD) beat per minute (bpm) (95% CI: 67.4–76.3 bpm) and its coefficient of variation was 25.0 ± 9.4 (SD) % (95% CI: 22.8–27.2%). Acquisition was significantly faster with CS_rt than with Cine_ref (Cine_ref: 556.7 ± 145.4 (SD) s (95% CI: 496.7–616.7 s); CS_rt: 23.9 ± 7.9 (SD) s (95% CI: 20.6–27.1 s); p < 0.0001). A total of 599 pairs of cine slices were evaluated (median: 8 (range: 6–14) slices per patient). The mean proportion of ARA-impaired slices per patient was 85.9 ± 22.7 (SD) % using Cine_ref, but this was figure was zero using CS_rt (p < 0.0001). The European CMR registry artifact score was lower with CS_rt (median: 1 (range: 0–5)) than with Cine_ref (median: 3 (range: 0–3); p < 0.0001). Subjective image quality was higher in CS_rt than in Cine_ref (median: 3 (range: 1–3) versus 2 (range: 1–4), respectively; p < 0.0001). In line, edge sharpness was higher on CS_rt cine than on Cine_ref images (0.054 ± 0.016 pixel⁻¹ (95% CI: 0.050–0.057 pixel⁻¹) versus 0.042 ± 0.022 pixel⁻¹ (95% CI: 0.037–0.047 pixel⁻¹), respectively; p = 0.0001). Conclusion: Compressed sensing real-time cine drastically reduces arrhythmia-related artifacts and thus improves cine image quality in patients with arrhythmia. Full article

Background and objective: To evaluate the reliability of compressed-sensing (CS) real-time single-breath-hold cine imaging for quantification of right ventricular (RV) function and volumes in congenital heart disease (CHD) patients in comparison with the standard multi-breath-hold technique. Methods: Sixty-one consecutive CHD patients (mean age = 22.2 ± 9.0 (SD) years) were prospectively evaluated during either the initial work-up or after repair. For each patient, two series of cine images were acquired: first, the reference segmented multi-breath-hold steady-state free-precession sequence (SSFP_ref), including a short-axis stack, one four-chamber slice, and one long-axis slice; then, an additional real-time compressed-sensing single-breath-hold sequence (CS_rt) providing the same slices. Two radiologists independently assessed the image quality and RV volumes for both techniques, which were compared using the Wilcoxon test and paired Student’s t test, Bland–Altman, and linear regression analyses. The visualization of wall-motion disorders and tricuspid-regurgitation-related signal voids were also analyzed. Results: The mean acquisition time for CS_rt was 22.4 ± 6.2 (SD) s (95% CI: 20.8–23.9 s) versus 442.2 ± 89.9 (SD) s (95% CI: 419.2–465.2 s) for SSFP_ref (p < 0.001). The image quality of CS_rt was diagnostic in all examinations and was mostly rated as good (n = 49/61; 80.3%). There was a high correlation between SSFP_ref and CS_rt images regarding RV ejection fraction (49.8 ± 7.8 (SD)% (95% CI: 47.8–51.8%) versus 48.7 ± 8.6 (SD)% (95% CI: 46.5–50.9%), respectively; r = 0.94) and RV end-diastolic volume (192.9 ± 60.1 (SD) mL (95% CI: 177.5–208.3 mL) versus 194.9 ± 62.1 (SD) mL (95% CI: 179.0–210.8 mL), respectively; r = 0.98). In CS_rt images, tricuspid-regurgitation and wall-motion disorder visualization was good (area under receiver operating characteristic curve (AUC) = 0.87) and excellent (AUC = 1), respectively. Conclusions: Compressed-sensing real-time cine imaging enables, in one breath hold, an accurate assessment of RV function and volumes in CHD patients in comparison with standard SSFP_ref, allowing a substantial improvement in time efficiency. Full article