[The association between cardiac mr feature tracking strain and myocardial late gadolinium enhancement in patients with hypertrophic cardiomyopathy].

Aim    Hypertrophic cardiomyopathy (HCM) is a relatively common, heritable cardiomyopathy, and cardiac magnetic resonance (CMR) studies have been performed previously to evaluate different aspects of the disease. However, a comprehensive study, including all four cardiac chambers and analysis of left atrial (LA) function, is missing in the literature. The aim of this retrospective study was to analyze CMR-feature tracking (CMR-FT) strain parameters and atrial function of HCM patients and to investigate the association of these parameters with the amount of myocardial late gadolinium enhancement (LGE).Material and Methods    In this retrospective, cross-sectional study, we analyzed the CMR images (CMRI) of 58 consecutive patients, who from February 2020 to September 2022 were diagnosed with HCM at our tertiary cardiovascular center. Patients who were younger than 18 yrs or who had moderate or severe valvular heart disease, significant coronary artery disease, previous myocardial infarction, suboptimal image quality, or with contraindication to CMR were excluded. CMRI was performed at 1.5 T with a scanner, and all scans were assessed by an experienced cardiologist and then re-assessed by an experienced radiologist. SSFP 2-, 3- and 4­chamber, short axis views were obtained and left ventricular (LV) end-diastolic volume (EDV), end-systolic volume (ESV), ejection fraction (EF), and mass were measured. LGE images were obtained using a PSIR sequence. Native T1 and T2 mapping and post-contrast T1 map sequences were performed and each patient's myocardial extracellular volume (ECV) was calculated. LA volume index (LAVI), LA ejection fraction (LAEF), LA coupling index (LACI) were calculated. The complete CMR analysis of each patient was performed with CVI 42 software (Circle CVi, Calgary, Canada), off-line.Results    The patients were divided into two groups, HCM with LGE (n=37, 64 %) and HCM without LGE (n=21, 36 %). The average patient age in the HCM patients with LGE was 50.8±14 yrs and 47±12.9 yrs in the HCM patients without LGE. Maximum LV wall thickness and basal antero-septum thickness were significantly higher in the HCM with LGE group compared to the HCM without LGE group (14.8±3.5 mm vs 20.3±6.5 mm (p<0.001), 14.2±3.2 mm vs 17.3±6.1 mm (p=0.015), respectively). LGE was 21.9±31.7 g and 15.7±13.4 % in the HCM with LGE group. LA area (22.2±6.1 vs 28.8±11.2 cm2; p=0.015) and LAVI (28.9±10.2 vs 45.6±23.1; p-0.004) were significantly higher in the HCM with LGE group. LACI was doubled in the HCM with LGE group (0.2±0.1 vs 0.4±0.2; p<0.001). LA strain (30.4±13.2 vs 21.3±16.2; p-0.04) and LV strain (15.2±3 vs 12.2±4.5; p=0.012) were significantly decreased in the HCM with LGE group.Conclusion    This study sheds light on the CMR-FT differences between HCM with and without LGE. We found a greater burden of LA volume but significantly lower LA and LV strain in the LGE patients. These findings highlight further the LA and LV remodeling in HCM. Impaired LA function appears to have physiological significance, being associated with greater LGE. While our CMR-FT findings support the progressive nature of HCM, beginning with sarcomere dysfunction to eventual fibrosis, further studies are needed to validate these results in larger cohorts and to evaluate their clinical relevance.

Toward Replacing Late Gadolinium Enhancement With Artificial Intelligence Virtual Native Enhancement for Gadolinium-Free Cardiovascular Magnetic Resonance Tissue Characterization in Hypertrophic Cardiomyopathy.

BACKGROUND: Late gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) imaging is the gold standard for noninvasive myocardial tissue characterization but requires intravenous contrast agent administration. It is highly desired to develop a contrast agent-free technology to replace LGE for faster and cheaper CMR scans. METHODS: A CMR virtual native enhancement (VNE) imaging technology was developed using artificial intelligence. The deep learning model for generating VNE uses multiple streams of convolutional neural networks to exploit and enhance the existing signals in native T1 maps (pixel-wise maps of tissue T1 relaxation times) and cine imaging of cardiac structure and function, presenting them as LGE-equivalent images. The VNE generator was trained using generative adversarial networks. This technology was first developed on CMR datasets from the multicenter Hypertrophic Cardiomyopathy Registry, using hypertrophic cardiomyopathy as an exemplar. The datasets were randomized into 2 independent groups for deep learning training and testing. The test data of VNE and LGE were scored and contoured by experienced human operators to assess image quality, visuospatial agreement, and myocardial lesion burden quantification. Image quality was compared using a nonparametric Wilcoxon test. Intra- and interobserver agreement was analyzed using intraclass correlation coefficients (ICC). Lesion quantification by VNE and LGE were compared using linear regression and ICC. RESULTS: A total of 1348 hypertrophic cardiomyopathy patients provided 4093 triplets of matched T1 maps, cines, and LGE datasets. After randomization and data quality control, 2695 datasets were used for VNE method development and 345 were used for independent testing. VNE had significantly better image quality than LGE, as assessed by 4 operators (n=345 datasets; P<0.001 [Wilcoxon test]). VNE revealed lesions characteristic of hypertrophic cardiomyopathy in high visuospatial agreement with LGE. In 121 patients (n=326 datasets), VNE correlated with LGE in detecting and quantifying both hyperintensity myocardial lesions (r=0.77-0.79; ICC=0.77-0.87; P<0.001) and intermediate-intensity lesions (r=0.70-0.76; ICC=0.82-0.85; P<0.001). The native CMR images (cine plus T1 map) required for VNE can be acquired within 15 minutes and producing a VNE image takes less than 1 second. CONCLUSIONS: VNE is a new CMR technology that resembles conventional LGE but without the need for contrast administration. VNE achieved high agreement with LGE in the distribution and quantification of lesions, with significantly better image quality.

Comprehensive Assessment of Heart Failure with Preserved Ejection Fraction Using Cardiac MRI.

Heart failure with preserved ejection fraction (HFpEF) burden is increasing. Its diagnostic process is challenging and imprecise due to absence of a single diagnostic marker, and the multiparametric echocardiography evaluation needed. Left ventricular (LV) ejection fraction (LVEF) is a limited marker of LV function; thus, allocating HF phenotypes based on LVEF can be misleading. HFpEF encompasses a broad spectrum of causes, and its diagnostic criteria give a central role to echocardiography, a first-line technique with inherent limitations related to ultrasound capabilities. Conversely, cardiac magnetic resonance provides superior anatomic and functional assessment, enabling tissue characterization, offering unprecedented diagnostic precision.

Intranuclear and higher-order chromatin organization of the major histone gene cluster in breast cancer.

Alterations in nuclear morphology are common in cancer progression. However, the degree to which gross morphological abnormalities translate into compromised higher-order chromatin organization is poorly understood. To explore the functional links between gene expression and chromatin structure in breast cancer, we performed RNA-seq gene expression analysis on the basal breast cancer progression model based on human MCF10A cells. Positional gene enrichment identified the major histone gene cluster at chromosome 6p22 as one of the most significantly upregulated (and not amplified) clusters of genes from the normal-like MCF10A to premalignant MCF10AT1 and metastatic MCF10CA1a cells. This cluster is subdivided into three sub-clusters of histone genes that are organized into hierarchical topologically associating domains (TADs). Interestingly, the sub-clusters of histone genes are located at TAD boundaries and interact more frequently with each other than the regions in-between them, suggesting that the histone sub-clusters form an active chromatin hub. The anchor sites of loops within this hub are occupied by CTCF, a known chromatin organizer. These histone genes are transcribed and processed at a specific sub-nuclear microenvironment termed the major histone locus body (HLB). While the overall chromatin structure of the major HLB is maintained across breast cancer progression, we detected alterations in its structure that may relate to gene expression. Importantly, breast tumor specimens also exhibit a coordinate pattern of upregulation across the major histone gene cluster. Our results provide a novel insight into the connection between the higher-order chromatin organization of the major HLB and its regulation during breast cancer progression.

Left ventricle ejection fraction may predict mortality in renal transplant patients.

PURPOSE: Mortality is a major problem in renal transplant patients, and appropriate preoperative evaluation is very important. We retrospectively reviewed the left ventricle ejection fraction (LVEF) of renal transplant patients. MATERIAL AND METHODS: The clinical records of 1763 patients who had preoperative LVEF results and who underwent renal transplantation at Akdeniz University Faculty of Medicine during the years 2004-2014 were studied. The LVEF limit was set at 55%. LVEF, age, gender, diabetes mellitus, hypertension, type of dialysis were assessed by linear multiple regression analysis on survival. RESULTS: There were a total of 1763 renal transplant patients. Those with LVEF of <55% were identified as having left ventricular dysfunction. The mean LVEF was 59.4 ± 9.1 in the 43 patients who died after renal transplantation, while it was 62.6 ± 7.4 in the survivors (p = 0.02). The mortality rate in the LVEF < 55% group was 6.8% (11/162 patients), while mortality in the LVEF ≥ 55% group was 2% (32/1601 patients, p < 0.001). LVEF was found to be the most powerful variable on survival by the linear multiple regression analysis, R2 = 0.05, p < 0.001. CONCLUSION: LVEF may predict mortality in renal transplant patients. LVEF is known to be lower in patients with high cardiac mortality, who may require greater modifications of the postoperative risks.

Left Ventricular Twist Mechanics Are Impaired in Patients with Coronary Slow Flow.

PURPOSE: Coronary slow flow (CSF) is a rare condition described as the delayed angiographic passage of a contrast agent in the absence of stenosis in epicardial coronary arteries. Left ventricular (LV) systolic and diastolic dysfunctions have been described in the presence of CSF. However, the effect of CSF on LV twist functions has not been assessed. We aimed to evaluate the effects of CSF on LV twist mechanics using speckle tracking echocardiography (STE). METHODS: Twenty CSF patients (24-60 years) were enrolled according to the exclusion criteria. Twenty subjects with similar demographic characteristics and normal coronary arteries were the controls. Participants were evaluated with conventional echocardiography and STE. RESULTS: The general characteristics of the two groups were similar. LV twist, LV torsion, and apical rotation were impaired in the CSF group (P = 0.015, P = 0.012, and P < 0.001, respectively). Time to peak twist (TPT) and time to peak untwisting (TPU) were prolonged in CSF patients (P < 0.001 and P < 0.001, respectively). In the CSF group, rotation-deformation delay was shortened (P < 0.001) and global longitudinal strain (GLS) was lower (P < 0.001). The thrombolysis in myocardial infarction (TIMI) frame count was negatively correlated with LV twist, LV torsion and apical rotation (P = 0.002, r = -0.624; P = 0.002, r = -0.624; and P = 0.002, r = -0.632, respectively). CONCLUSIONS: We demonstrated that LV twist mechanics are impaired in CSF patients. Worse LV twist parameters were associated with greater TIMI frame count.

Arrhythmia risk assessment using heart rate variability parameters in patients with frequent ventricular ectopic beats without structural heart disease.

BACKGROUND: Ventricular ectopic beats (VEBs) are usually considered a benign condition that can be managed with conservative measures. Heart rate variability (HRV), which is one of the most important methods for assessing autonomic activity, is a noninvasive, quantitative method of analyzing autonomic effects on the heart. We aimed to investigate the risk of arrhythmia in patients with VEBs and without cardiovascular disease by using HRV parameters. METHODS: Patients with frequent VEBs (more than 30 times in 1 hour, according to the Lown classification) were identified. Identified patients were evaluated by 24-hour ECG recording. Our study included 43 patients with frequent VEBs and 43 controls. RESULTS: General characteristics of the study population were similar. The LF (low frequency)/HF (high frequency) ratio was significantly higher in the frequent VEBs group than in the control group (P < 0.001). The rate of paroxysmal atrial fibrillation (PAF) was higher in the frequent VEB group than in the control group (P = 0.003). The number of VEBs was correlated with LF/HF ratio and PAF (r = 0.339, P = 0.001 and r = 0.294, P = 0.006, respectively). CONCLUSIONS: Our study showed that the sympathetic nervous system is dominant in young patients with VEBs and without significant comorbidities. There is a higher risk of atrial fibrillation in patients with VEBs and they should be monitored closely for atrial fibrillation.

Platelet/lymphocyte ratio and risk of in-hospital mortality in patients with ST-elevated myocardial infarction.

BACKGROUND: Platelet-to-lymphocyte ratio (PLR) is a new prognostic marker in coronary artery disease. We aimed to evaluate the relationship between PLR and in-hospital mortality in patients with ST-elevated acute myocardial infarction (AMI). MATERIAL AND METHODS: The present study included 636 patients with ST-elevated AMI. The study population was divided into tertiles based on their admission PLR. Patients having values in the third tertile was defined as the high PLR group (n=212) and those having values in the lower 2 tertiles were defined as the low PLR group (n=424). RESULTS: Risk factors of coronary artery disease and treatments administered during the in-hospital period were similar between the groups. Male patient ratio was found to be lower in the high PLR group (73% vs. 82.8%, p=0.004). In-hospital mortality was increased in the high PLR group when compared to the low PLR group (12.7% vs. 5.9%, p=0.004). The PLR >144 was found to be an independent predictor of in-hospital cardiovascular mortality (HR: 2.16, 95% CI: 1.16-4.0, p=0.014). CONCLUSIONS: This study showed that PLR is an independent predictor of cardiovascular mortality in patients with ST-elevated AMI.

Assessment of the relationship between red cell distribution width and fragmented QRS in patients with non-ST elevated acute coronary syndrome.

BACKGROUND: Red cell distribution width (RDW) and fragmented QRS (fQRS) complexes have also been reported to be pre-dictors of cardiac events and all-cause mortality in coronary artery disease (CAD). We aimed to investigate the association of serum red cell distribution width (RDW) levels and fQRS in patients with non-ST elevated acute coronary syndrome (NST-ACS). MATERIAL AND METHODS: We retrospectively evaluated a total of 251 patients (191 men and 60 women) with NST-ACS. The NST-ACS consisted of unstable angina (UA) and non-ST elevated myocardial infarction (NSTEMI). The fQRS pattern was defined as the presence of an additional R' or crochetage wave, notching in the nadir of the S wave or fragmentation of the RS or QS complexes in 2 contiguous leads corresponding to a major coronary artery territory. The relationships between the RDW and fQRS were assessed. RESULTS: The patients in the fQRS group were older, left ventricular ejection fraction (LVEF) levels were significantly lower, and baseline RDW and troponin levels were significantly higher than in the group without fQRS. There were positive correlations between age, number of coronary arteries narrowed, and RDW, and negative correlations between triglyceride, LVEF, and RDW in study patients. There were positive correlations between number of fQRS leads, age, and RDW, and negative correlations between triglyceride, LVEF, and RDW in NSTEMI patients. CONCLUSIONS: Our results indicate that an elevated RDW values is associated with fQRS in NST-ACS. Elevated RDW values and fQRS together may be useful for identifying NSTEMI patients in NST-ACS.

The relationship between high-sensitive troponin T, neutrophil lymphocyte ratio and SYNTAX Score.

AIM: Cardiac troponins are the most preferred biomarkers in the evaluation of acute coronary syndromes (ACS). The aim of our study was to examine the association between high sensitive troponin T (hs-TnT), and neutrophil to lymphocyte ratio (NLR) and the complexity of ACS assessed by SYNTAX Score. METHODS AND RESULTS: 287 patients who underwent coronary angiography were studied (215 male, mean age 62.0 ± 12.7 years). 133 patients were ST elevation myocardial infarction (STEMI), 154 patients were non-ST elevation (NSTE) ACS . The patients are divided to tertiles according to SYNTAX Score; SYNTAX Score ≤ 22 (n = 122) 22 < SYNTAX Score ≤ 32 (n = 120), and SYNTAX Score > 32 (n = 45). NLR was significantly correlated with SYNTAX Score in both STEMI and NSTE-ACS groups (r = 0.254, p = 0.003, r = 0.419 p < 0.001). Multiple linear regression analysis showed NLR predicted the angiographic severity of ACS assessed by SYNTAX Score in two groups (ß = 0.231, p = 0.004; ß = 0.232, p = 0.003). Hs-TnT was significantly correlated with SYNTAX Score in two groups (r = 0.327, p < 0.001; r = 0.430, p < 0.001). Multiple linear regression analysis showed hs-TnT was independent predictor of SYNTAX Score in STEMI and NSTE-ACS patients (ß = 0.292, p < 0.001; ß = 0.317, p < 0.001). CONCLUSION: Hs-TnT and NLR were significantly correlated with angiographic severity of ACS assessed by SYNTAX Score.

Epicardial adipose tissue thickness in hemodialysis patients.

AIM: Hemodialysis (HD) patients had higher cardiovascular mortality and it is related to atherosclerosis. Epicardial adipose tissue (EAT) thickness is a marker of atherosclerosis and independent predictor of coronary artery disease. The aim of our study was to evaluate the relationship between EAT and carotid intima-media thickness (CIMT) predictors of early atherosclerosis in HD patients. METHODS: The study included 62 HD patients and 40 healthy controls. EAT thickness and CIMT were measured by echocardiography in all subjects. RESULTS: Epicardial adipose tissue thickness and CIMT were higher (6.98 ± 1.67 vs. 3.84 ± 0.73 mm, P < 0.001, 0.94 ± 0.17 vs. 0.63 ± 0.11 mm, P < 0.001, respectively) in HD patients than in control subjects. EAT thickness were correlated with CIMT, HD duration, age, and calcium. In addition, HD duration, CIMT, and age were independent predictors of EAT thickness on HD patients in regression analysis. CONCLUSION: Epicardial adipose tissue thickness may be a useful indicator of early atherosclerosis in HD patients.

Intercellular adhesion molecule-1 K469E and angiotensinogen T207M polymorphisms in coronary slow flow.

OBJECTIVE: To investigate intercellular adhesion molecule-1 (ICAM1) and angiotensinogen (AGT) gene polymorphisms, as related to atherosclerosis and endothelial dysfunction, in coronary slow flow (CSF). SUBJECTS AND METHODS: The participants in this study were 48 patients with CSF and 67 patients with normal coronary flow as controls. The K469E polymorphism of ICAM1 (rs5498) and the T207M polymorphism of AGT (rs4762) were determined using the polymerase chain reaction amplification method. RESULTS: Baseline demographic parameters were similar in both groups. The mean thrombolysis in myocardial infarction frame count was significantly higher in patients with CSF (23.8 ± 5.1) compared to the controls (13.3 ± 2.6, p < 0.001). A significant association was found between the ICAM1 K allele and CSF (OR: 1.96, 95% CI: 1.15-3.35, p = 0.013). There was no difference in the frequency of AGT T207M genotypes in the patients with CSF and the control subjects. CONCLUSION: This study showed that K469E polymorphisms of ICAM1 that play a role in atherosclerotic pathogenesis are related to CSF.

Fragmented QRS and prediction of paroxysmal atrial fibrillation episodes.

OBJECTIVE: Prior studies have demonstrated the relationship between cardiovascular diseases and fragmented QRS (fQRS). fQRS was also associated with ventricular arrhythmias. Our objective was to find out the relationship between fQRS and paroxysmal atrial fibrillation (PAF). METHOD: A total of 301 patients without overt structural heart disease were prospectively included in the study. Patients were divided in to 2 groups according to presence of fQRS. Multivariate logistic regression analysis was used to assess the predictive value of fQRS for predicting PAF. RESULTS: One hundred and three patients had fQRS. Patients with fQRS were older (53±16.8 vs 45.3±17.2, p<0.001), with larger left atrium (LA) (33.2±5.9 vs 30.1±5.9 mm, p=0.001), with thicker interventricular septum (IVS) (10.2±1.9 vs 9.5±2.3 mm, p=0.032), more diabetic (19.8 vs 10.6%, p=0.029) and have more PAF episodes (22.3 vs 4.1%, p<0.001) in comparison with patients without fQRS. fQRS was an independent predictor of detecting PAF episode (odds ratio, 9.69; 95% confidence interval, 2.46-38.15, p=0.001). Hypertension and diabetes mellitus were also predictive. CONCLUSION: The presence of fQRS independently predicted PAF episodes in holter monitoring (HM). Further studies are needed to clarify the clinical implications of this finding.

[Relationship between presence of fragmented QRS on 12-lead electrocardiogram on admission and long-term mortality in patients with non-ST elevated myocardial infarction]. / ST yükselmesiz miyokart enfarktüslü hastalarda basvurudaki 12-derivasyonlu elektrokardiyografide fragmente QRS varligi ile uzun dönem mortalite arasindaki iliski.

OBJECTIVES: Fragmented QRS (fQRS) as a predictor of cardiac events in coronary artery disease has previously been reported. In this study, we hypothesized that presence of fQRS on a 12-lead electrocardiogram (ECG) on admission would be predictive of adverse outcomes in non-ST elevated myocardial infarction (NSTEMI). STUDY DESIGN: A total of 149 NSTEMI patients (112 male, 37 female) were retrospectively analyzed. The fQRS pattern was defined as the presence of an additional R', notching in the nadir of the S wave, fragmentation of the RS or QS complexes in 2 contiguous leads corresponding to a major coronary artery territory. The relationship between presence of fQRS on admission on a 12-lead ECG, and primary end points [cardiovascular death (CVD)] and secondary end points (re-infarction, repeat target vessel revascularization [percutaneous/surgical]) were assessed. The median follow-up time was 18 (13-24) months. RESULTS: Other than age, there were no significant differences in baseline characteristics and laboratory findings for patients in the fQRS and non-fQRS groups. The patients in the fQRS group were older [64 years vs 59 years, p=0.048]. CVD and re-infarction were significantly higher in the fQRS group in the median 18-month follow-up (26.1% vs 8.7%, p=0.005; 23.9% vs 10.7%, p=0.035, respectively). By a multivariate regression analysis in all 149 patients, age ≥65 years and the presence of fQRS in a 12-lead ECG on admission were found to be powerful independent predictors of cardiovascular mortality (HR: 4.91, 95% CI: 1.60-15.03, p=0.005; HR: 2.77, 95% CI: 1.02-7.50, p=0.044, respectively). CONCLUSION: Presence of fQRS on a 12-lead ECG on admission is associated with increased long-term mortality in patients with NSTEMI.

The association between serum uric acid level and heart failure and mortality in the early period of ST-elevation acute myocardial infarction.

OBJECTIVES: Uric acid (UA) is a strong marker of cardiovascular disease. Therefore, we aimed to determine the relationship between serum UA levels and cardiovascular events in patients in the early period of their acute myocardial infarction. STUDY DESIGN: This retrospective study included 586 consecutive patients with ST-elevated myocardial infarction (STEMI) who were admitted to the hospital between March 2010 and February 2012. The study population was divided into two groups; the first group included hyperuricemic patients (n=107; uric acid level >6 mg/dl in women and >7 mg/dl in men), and the second group included patients with normal UA level (n=479). Multivariate analysis was used to demonstrate the predictive value of UA levels in groups. RESULTS: Patients in the hyperuricemic group were older (median 66 years vs. 60 years, p=0.001), and the ratio of female patients was higher (35.5% vs. 16.9%, p=0.001). Patients with hyperuricemia had a significantly higher incidence of in-hospital cardiovascular mortality than the normal group (15.9% vs. 3.1%, p<0.001). Advanced heart failure (class ≥ 3) was more frequent among hyperuricemic patients (17.8% vs. 8.8%, p=0.006). Age ≥ 70 years, chest pain duration >6 hours and hyperuricemia (hazard ratio (HR): 1.83, 95% confidence interval: 1.02-3.27; p=0.041) were found to be independent predictors of advanced heart failure. Hyperuricemia was found to be an independent predictor of in-hospital cardiovascular mortality in multivariate analyses (HR: 5.32, 95% confidence interval: 2.46-11.49; p=0.001). CONCLUSION: This study showed that a high serum UA level is an independent predictor of cardiovascular mortality and morbidity during the in-hospital period of STEMI.

Cancer-testis gene expression is associated with the methylenetetrahydrofolate reductase 677 C>T polymorphism in non-small cell lung carcinoma.

BACKGROUND: Tumor-specific, coordinate expression of cancer-testis (CT) genes, mapping to the X chromosome, is observed in more than 60% of non-small cell lung cancer (NSCLC) patients. Although CT gene expression has been unequivocally related to DNA demethylation of promoter regions, the underlying mechanism leading to loss of promoter methylation remains elusive. Polymorphisms of enzymes within the 1-carbon pathway have been shown to affect S-adenosyl methionine (SAM) production, which is the sole methyl donor in the cell. Allelic variants of several enzymes within this pathway have been associated with altered SAM levels either directly, or indirectly as reflected by altered levels of SAH and Homocysteine levels, and altered levels of DNA methylation. We, therefore, asked whether the five most commonly occurring polymorphisms in four of the enzymes in the 1-carbon pathway associated with CT gene expression status in patients with NSCLC. METHODS: Fifty patients among a cohort of 763 with NSCLC were selected based on CT gene expression status and typed for five polymorphisms in four genes known to affect SAM generation by allele specific q-PCR and RFLP. RESULTS: We identified a significant association between CT gene expression and the MTHFR 677 CC genotype, as well as the C allele of the SNP, in this cohort of patients. Multivariate analysis revealed that the genotype and allele strongly associate with CT gene expression, independent of potential confounders. CONCLUSIONS: Although CT gene expression is associated with DNA demethylation, in NSCLC, our data suggests this is unlikely to be the result of decreased MTHFR function.

Could epicardial adipose tissue thickness by echocardiography be correlated with acute coronary syndrome risk scores.

AIM: The aim of our study was, echocardiographic epicardial adipose tissue (EAT) thickness could show the severity and the prognosis of acute coronary syndromes (ACS). METHODS AND RESULTS: Sixty-five ACS patients (mean age 57.4 ± 12.2 years) who underwent coronary angiography were studied. EAT thickness on the free wall of right ventricle was measured at end-diastole from the parasternal long-axis views of 3 cardiac cycles. SYNTAX and Global Registry of Acute Coronary Events (GRACE) scoring considered for severity and the prognosis of ACS. The mean value of the EAT thickness were 5.5 ± 0.5 mm (range 1-12 mm). EAT thickness had a positive correlation with high sensitive troponin T (r = 0.712, P < 0.001) and body mass index (r = 0.522, P < 0.001.) EAT thickness was significantly correlated patients with high SYNTAX score (r = 0.690, P < 0.001), but not correlated with GRACE score (r = 0.224, P = 0.072). CONCLUSION: Epicardial adipose tissue thickness was correlated with angiographic severity of ACS, but not correlated with clinical prognosis risk score.

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

BACKGROUND: Hypertrophic cardiomyopathy is a common genetic heart disease and up to 40%-60% of patients have mutations in cardiac sarcomere protein genes. This genetic diagnosis study aimed to detect pathogenic or likely pathogenic sarcomeric and non-sarcomeric gene mutations and to confirm a final molecular diagnosis in patients diagnosed with hypertrophic cardiomyopathy. METHODS: A total of 392 patients with hypertrophic cardiomyopathy were included in this nationwide multicenter study conducted at 23 centers across Türkiye. All samples were analyzed with a 17-gene hypertrophic cardiomyopathy panel using next-generation sequencing technology. The gene panel includes ACTC1, DES, FLNC, GLA, LAMP2, MYBPC3, MYH7, MYL2, MYL3, PLN, PRKAG2, PTPN11, TNNC1, TNNI3, TNNT2, TPM1, and TTR genes. RESULTS: The next-generation sequencing panel identified positive genetic variants (variants of unknown significance, likely pathogenic or pathogenic) in 12 genes for 121 of 392 samples, including sarcomeric gene mutations in 30.4% (119/392) of samples tested, galactosidase alpha variants in 0.5% (2/392) of samples and TTR variant in 0.025% (1/392). The likely pathogenic or pathogenic variants identified in 69 (57.0%) of 121 positive samples yielded a confirmed molecular diagnosis. The diagnostic yield was 17.1% (15.8% for hypertrophic cardiomyopathy variants) for hypertrophic cardiomyopathy and hypertrophic cardiomyopathy phenocopies and 0.5% for Fabry disease. CONCLUSIONS: Our study showed that the distribution of genetic mutations, the prevalence of Fabry disease, and TTR amyloidosis in the Turkish population diagnosed with hypertrophic cardiomyopathy were similar to the other populations, but the percentage of sarcomeric gene mutations was slightly lower.

Contradictory Effect of Coronary Collateral Circulation on Regional Myocardial Perfusion That Assessed by Quantitative Myocardial Perfusion Scintigraphy.

BACKGROUND: Previous studies showed conflicting results about the contribution of coronary collateral circulation (CCC) to myocardial perfusion and function. The aim of this study was to investigate these contradictory problems by gated myocardial perfusion scintigraphy (gated MPS) for the first time. METHODS: The current cohort was retrospectively selected among patients who underwent gated MPS and coronary angiography within 2 months. Two different groups including 96 patients were assessed by gated MPS to detect the understanding of the miscellaneous effect of CCC on myocardial perfusion. Group 1 consisted of those who had collateral arteries that were not-well-developed (Rentrop grade 0 - 1) (n = 58), while group 2 consisted of those who had collateral arteries that were well-developed (Rentrop grade 2 - 3) (n = 38). RESULTS: There was no statistically significant difference between groups 1 and 2 in terms of perfusion and functional parameters obtained from gated MPS. Furthermore, no statistically significant difference was found in the phase analysis parameters which is a novel technique to evaluate left ventricular synchronization. On the other hand the left ventricular mass index values were high and quite close to the statistically significant value (P = 0.059) in group 2. CONCLUSIONS: The current results that obtained by using the gated MPS technique for the first time in the evaluation of CCC showed that the well-developed collateral circulation has a positive effect on myocardial perfusion and function, but this effect was not statistically significant. Results need to be supported by large scale of patients' size.

Deep neural network ensemble for on-the-fly quality control-driven segmentation of cardiac MRI T1 mapping.

Recent developments in artificial intelligence have generated increasing interest to deploy automated image analysis for diagnostic imaging and large-scale clinical applications. However, inaccuracy from automated methods could lead to incorrect conclusions, diagnoses or even harm to patients. Manual inspection for potential inaccuracies is labor-intensive and time-consuming, hampering progress towards fast and accurate clinical reporting in high volumes. To promote reliable fully-automated image analysis, we propose a quality control-driven (QCD) segmentation framework. It is an ensemble of neural networks that integrate image analysis and quality control. The novelty of this framework is the selection of the most optimal segmentation based on predicted segmentation accuracy, on-the-fly. Additionally, this framework visualizes segmentation agreement to provide traceability of the quality control process. In this work, we demonstrated the utility of the framework in cardiovascular magnetic resonance T1-mapping - a quantitative technique for myocardial tissue characterization. The framework achieved near-perfect agreement with expert image analysts in estimating myocardial T1 value (r=0.987,p<.0005; mean absolute error (MAE)=11.3ms), with accurate segmentation quality prediction (Dice coefficient prediction MAE=0.0339) and classification (accuracy=0.99), and a fast average processing time of 0.39 second/image. In summary, the QCD framework can generate high-throughput automated image analysis with speed and accuracy that is highly desirable for large-scale clinical applications.