12 research outputs found
A high resolution, 6 channels, silicon drif detector array with integrated JFET's designed for XAFS spectroscopy:first X-ray fluorescence excitation spectra recorded at the ESRF
No full text
A dual line multicell ionization chamber for transvenous coronary angiography with synchrotron radiation
No full textA position sensitive one‐dimensional x‐ray detector with a large dynamic range (≳214:1) for high photon fluxes with fast image recording sequence (300 ms per frame) has been developed for transvenous coronary angiography with synchrotron radiation. A position resolution of 1 LP/mm and a detection quantum efficiency (DQE) of at least 58% (for 11 000 photons per pixel) has been achieved for 33 keV photons in a Xe‐CO2 gas mixture at 20 bars. The use of Kr‐CO2 as conversion gas provides a better contrast of the weak iodine signal than Xe‐CO2 or Si, respectively, for a fraction of 2% of the second harmonics of the synchrotron beam used
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
No full text\ua9 2020, The Author(s).Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations. Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 \ub1 18.3 vs. 81.3 \ub1 16.4 \ub5mol/l; p = 0.487) and blood urea nitrogen (10.2 \ub1 15.6 vs. 6.9 \ub1 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e′ ratio between the two groups was also noted (MYBPC3 8.8 \ub1 3.3, MYH7 13.9 \ub1 6.9, p = 0.079). Conclusions: Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3
Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy
No full text© 2020, The Author(s). Background: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and β-myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations. Methods: As a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography. Results: The most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p = 0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p = 0.085). Laboratory analyses revealed normal levels of creatinine (85.5 ± 18.3 vs. 81.3 ± 16.4 µmol/l; p = 0.487) and blood urea nitrogen (10.2 ± 15.6 vs. 6.9 ± 3.9 mmol/l; p = 0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p = 0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p = 0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p = 0.001). The difference in diastolic function, i.e. E/e′ ratio between the two groups was also noted (MYBPC3 8.8 ± 3.3, MYH7 13.9 ± 6.9, p = 0.079). Conclusions: Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3
Coronary angiography with synchrotron radiation
No full textWorldwide several systems for Digital Subtraction Angiography in energy subtraction mode (dichromography) are developed. One of the systems which allows investigations of patients - the system NIKOS in the Hamburger Synchrotronstrahlungslabor HASYLAB at DESY is described. The system consists out of six main parts : The 20 pole wiggler HARWI in the beamline W2 of the storage ring DORIS, the two beam monochromator for the two 12.5 cm wide monochromatic X-ray beams, the safety system, the fast scanning device, the fast low-noise two-line ionization chamber and the computer system. Since 1990 patients were investigated with the system NIKOS. Aim of the work is to visualize coronary arteries down to 1 mm diameter with an iodine mass density of 1 mg/cm2, thus allowing non-invasive investigations by intravenous application of the contrast medium. The two images for subtraction are simultaneously taken with photon energies just below and above the iodine K-edge (33.17 keV) in a line scan mode. Intravenous angiograms from investigations with version III of the system NIKOS are presented and the next steps for getting an increased image quality are described
Economic burden of heart failure in Europe: A systematic review of costs and cost-effectiveness
No full text\ua9 2025 The Author(s). ESC Heart Failure published by John Wiley & Sons Ltd on behalf of European Society of Cardiology.Heart failure (HF) affects over 64 million individuals worldwide and is a major cause of hospitalization and mortality, particularly among older adults. In Europe, HF imposes a significant and growing economic burden. This systematic review aimed to evaluate the economic impact of HF diagnosis, treatment and management across European healthcare systems. A systematic literature search was conducted using PubMed, Cochrane Library and Econlit databases including the terms ‘heart failure’ AND ‘costs’ OR ‘cost of illness’ OR ‘cost analysis’ OR ‘economic burden’ OR ‘cost effectiveness’ OR ‘primary care’ OR ‘secondary care’. Studies published between January 2000 and January 2024 were included. A total of 49 studies were included: 17 on resource use, 11 on costs, 15 on resource use and costs, 1 on costs and cost-effectiveness, and 5 on resource use, costs and cost-effectiveness. Hospitalizations and medication use were the most frequently reported resource parameters. Annual HF-related costs varied widely across countries, ranging from €613 to €22,647 per patient. Hospitalizations represented the primary cost driver, accounting for 15% to 92% of total HF costs. Cost-reduction strategies included multidisciplinary care, telemonitoring and pharmacologic interventions. Several disease management programmes reduced hospital admissions and emergency visits. Cost-effectiveness analyses supported the use of certain HF therapies, with incremental cost-effectiveness ratios ranging from €1490 to €9406 per QALY gained. F imposes a substantial economic burden in Europe, largely driven by hospitalizations. Cost-effective interventions such as remote monitoring and integrated care programmes can reduce this burden. Broader adoption of these strategies may improve outcomes and optimize resource allocation across healthcare systems
Clinical validation of an artificial intelligence-based decision support system for diagnosis and risk stratification of heart failure (STRATIFYHF): a protocol for a prospective, multicentre longitudinal study
No full text\ua9 Author(s) (or their employer(s)) 2025. Introduction: Heart failure (HF) is a complex clinical syndrome. Accurate risk stratification and early diagnosis of HF are challenging as its signs and symptoms are non-specific. We propose to address this global challenge by developing the STRATIFYHF artificial intelligence-driven decision support system (DSS), which uses novel analytical methods in determining the risk, diagnosis and prognosis of HF. The primary aim of the present study is to collect prospective clinical data to validate the STRATIFYHF DSS (in terms of diagnostic accuracy, sensitivity and specificity) as a tool to predict the risk, diagnosis and progression of HF. The secondary outcomes are the demographic and clinical predictors of risk, diagnosis and progression of HF. Methods and analysis STRATIFYHF is a prospective, multicentre, longitudinal study that will recruit up to 1600 individuals (n=800 suspected/at risk of HF and n=800 diagnosed with HF) aged ≥45 years old, with up to 24 months of follow-up observations. Individuals suspected of HF will be divided into two categories based on current definitions and predefined inclusion criteria. All participants will have their medical history recorded, along with data on physical examination (signs and symptoms), blood tests including serum natriuretic peptides levels, ECG and echocardiogram results, as well as demographic, socioeconomic and lifestyle data, and use of complete novel technologies (cardiac output response to stress test and voice recognition biomarkers). All measurements will be recorded at baseline and at 12-month follow-up, with medical history and hospitalisation also recorded at 24-month follow-up. Cardiovascular MRI assessment will be completed in a subset of participants (n=20-40) from eligible clinical centres only at baseline. Each clinical centre will recruit a subset of participants (n=30) who will complete a 6-month home-based monitoring of clinical characteristics and accelerometry (wrist-worn monitor) to determine the feasibility and acceptability of the STRATIFYHF mobile application. Focus groups and semistructured interviews will be conducted with up to 15 healthcare professionals and up to 20 study participants (10 at risk of HF and 10 diagnosed with HF) to explore the needs of patients and healthcare professionals prior to the development of the STRATIFYHF DSS and to evaluate the acceptability of this mobile application. Ethics and dissemination Ethical approval has been granted by the East Midlands - Leicester Central Research Ethics Committee (24/EM/0101). Dissemination activities will include journal publications and presentations at conferences, as well as development of training materials and delivery of focused training on the STRATIFYHF DSS and mobile application. We will develop and propose policy guidelines for integration of the STRATIFYHF DSS and mobile application into the standard of care in the HF care pathway
Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study
No full textBackground: Statins are the cornerstone treatment for patients with heterozygous familial hypercholesterolaemia but research suggests it could increase the risk of type 2 diabetes in the general population. A low prevalence of type 2 diabetes was reported in some familial hypercholesterolaemia cohorts, raising the question of whether these patients are protected against type 2 diabetes. Obesity is a well known risk factor for the development of type 2 diabetes. We aimed to investigate the associations of known key determinants of type 2 diabetes with its prevalence in people with heterozygous familial hypercholesterolaemia. Methods: This worldwide cross-sectional study used individual-level data from the EAS FHSC registry and included adults older than 18 years with a clinical or genetic diagnosis of heterozygous familial hypercholesterolaemia who had data available on age, BMI, and diabetes status. Those with known or suspected homozygous familial hypercholesterolaemia and type 1 diabetes were excluded. The main outcome was prevalence of type 2 diabetes overall and by WHO region, and in relation to obesity (BMI ≥30·0 kg/m2) and lipid-lowering medication as predictors. The study population was divided into 12 risk categories based on age (tertiles), obesity, and receiving statins, and the risk of type 2 diabetes was investigated using logistic regression. Findings: Among 46 683 adults with individual-level data in the FHSC registry, 24 784 with heterozygous familial hypercholesterolaemia were included in the analysis from 44 countries. 19 818 (80%) had a genetically confirmed diagnosis of heterozygous familial hypercholesterolaemia. Type 2 diabetes prevalence in the total population was 5·7% (1415 of 24 784), with 4·1% (817 of 19 818) in the genetically diagnosed cohort. Higher prevalence of type 2 diabetes was observed in the Eastern Mediterranean (58 [29·9%] of 194), South-East Asia and Western Pacific (214 [12·0%] of 1785), and the Americas (166 [8·5%] of 1955) than in Europe (excluding the Netherlands; 527 [8·0%] of 6579). Advancing age, a higher BMI category (obesity and overweight), and use of lipid-lowering medication were associated with a higher risk of type 2 diabetes, independent of sex and LDL cholesterol. Among the 12 risk categories, the probability of developing type 2 diabetes was higher in people in the highest risk category (aged 55–98 years, with obesity, and receiving statins; OR 74·42 [95% CI 47·04–117·73]) than in those in the lowest risk category (aged 18–38 years, without obesity, and not receiving statins). Those who did not have obesity, even if they were in the upper age tertile and receiving statins, had lower risk of type 2 diabetes (OR 24·42 [15·57–38·31]). The corresponding results in the genetically diagnosed cohort were OR 65·04 (40·67–104·02) for those with obesity in the highest risk category and OR 20·07 (12·73–31·65) for those without obesity. Interpretation: Adults with heterozygous familial hypercholesterolaemia in most WHO regions have a higher type 2 diabetes prevalence than in Europe. Obesity markedly increases the risk of diabetes associated with age and use of statins in these patients. Our results suggest that heterozygous familial hypercholesterolaemia does not protect against type 2 diabetes, hence managing obesity is essential to reduce type 2 diabetes in this patient population. Funding: Pfizer, Amgen, MSD, Sanofi-Aventis, Daiichi-Sankyo, and Regeneron
