Search results for "ESA"
showing 10 items of 11914 documents
Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach
2015
Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Ill…
Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods
2015
International audience; Calreticulin (CALR) mutations have recently been reported in 70-84% of JAK2V617F-negative myeloproliferative neoplasms (MPN), and this detection has become necessary to improve the diagnosis of MPN. In a large single-centre cohort of 298 patients suffering from Essential Thrombocythemia (ET), the JAK2V617F, CALR and MPL mutations were noted in 179 (60%), 56 (18.5%) and 13 (4.5%) respectively. For the detection of the CALR mutations, three methods were compared in parallel: high-resolution melting-curve analysis (HRM), product-sizing analysis and Sanger sequencing. The sensitivity for the HRM, product-sizing analysis and Sanger sequencing was 96.4%, 98.2% and 89.3% re…
Image-Guided Transcranial Doppler Ultrasound for Monitoring Posthemorrhagic Vasospasms of Infratentorial Arteries: A Feasibility Study
2019
Background A considerable number of patients with subarachnoid hemorrhage (SAH) develop vasospasms of the infratentorial arteries. Transcranial Doppler sonography (TCD) is used to screen for vasospasm. In this study, we used a technical modification that combines TCD with an image guidance device that the operator can use to navigate to the ultrasonic window and to predefined intracranial vascular targets. Our aim was to analyze the feasibility, spatial precision, and spatial reproducibility of serial image-guided TCD of infratentorial and—for comparison—supratentorial arteries in the clinical setting of monitoring for vasospasm after SAH. Methods The study included 10 SAH patients, who eac…
The Role of Work Group in Individual Sickness Absence Behavior
2008
The purpose of our two-year follow-up study was to examine the effect of the social components of the work group, such as group absence norms and cohesion, on sickness absence behavior among individuals with varying attitudes toward work attendance. The social components were measured using a questionnaire survey, and data on sickness absence behavior were collected from the employers' records. The study population consisted of 19,306 Finnish municipal employees working in 1,847 groups (78% women). Multilevel Poisson regression modeling was applied. The direct effects of work group characteristics on sickness absence were mostly insignificant. In contrast, both of the social components of …
Novel rearrangements involving the RET gene in papillary thyroid carcinoma.
2018
Abstract Background In the field of gene fusions driving tumorigenesis in papillary thyroid carcinoma (PTC), rearrangement of the proto-oncogene RET is the most frequent alteration. Apart from the most common rearrangement of RET to CCDC6, more than 15 partner genes are yet reported. The landscape of RET rearrangements in PTC (“RET-PTC”) can notably be enlarged by modern targeted next-generation sequencing, indicating similarities between oncogenic pathways in other cancer types with identical genetic alterations. Methods Targeted next-generation sequencing was performed for two cases of BRAF-wild type PTC with confirmation of the results by Sanger sequencing. A “UniProt” database research …
Nonlinear analysis of sleep EEG data in schizophrenia: calculation of the principal Lyapunov exponent
1995
The generating mechanism of the electroencephalogram (EEG) points to the hypothesis that EEG signals derive from a nonlinear dynamic system. Hence, the unpredictability of the EEG might be considered as a phenomenon exhibiting its chaotic character. The essential property of chaotic dynamics is the so-called sensitive dependence on initial conditions. This property can be quantified by calculating the system's first positive Lyapunov exponent, L1. We calculated L1 for sleep EEG segments of 13 schizophrenic patients and 13 control subjects that corresponded to sleep stages I, II, III, IV and REM (rapid eye movement), as defined by Rechtschaffen and Kales, for the lead positions Cz and Pz. Du…
Analysis of Internal Jugular Vein Insufficiency—A Comparison of Two Ultrasound Methods
2006
Abstract Jugular venous valve insufficiency is a contributing factor to different pathologic conditions. For assessment of insufficiency, two ultrasound techniques have been developed, that are based on very different methodology (direct Doppler assessment versus air contrast ultrasound venography [ACUV]). This study was conducted to compare these two methods to improve comparability of existing studies and diagnostic accuracy in future studies. The function of 40 valves was determined in 20 individuals during a Valsalva maneuver. For direct Doppler assessment, valvular competence was assessed on basis of Doppler recordings, following recently established criteria. Valvular insufficiency in…
Color doppler ultrasonography of soft-tissue masses
1998
Purpose: To evaluate the capability of color Doppler ultrasonography to differentiate between benign and malignant soft-tissue tumors. Material and Methods: We reviewed the ultrasonographic (US) and color Doppler (CD) findings in 46 consecutive patients with a palpable periskeletal mass. The presence of 3 or more vascular hila and of tortuous and irregular internal vessels within the lesions was considered an indication of malignancy. The CD diagnosis was compared with that obtained at US alone. Results: The sensitivity and specificity of CD were respectively 85% and 92%; these values were higher than those obtained at US alone, respectively 75% and 50%. Arteriovenous malformations present…
Evaluation of diastolic function by the Tissue doppler in children affected by non- compaction
2007
The Tissue doppler analysis is a new echocardiographic approach to evaluate the diastolic function. In this report we performed a Tissue doppler analysis in a series of 15 children affected by non-compaction. The bidimensional echo-cardiogram showed a systolic function which was reduced only in 8 patients. Alterations of the diastolic function were founded in 7 patients: in 2 cases, a reduction of the E tissue wave was present in all segments. In 3 patients the diastolic dysfunction was limited to apical and lateral segments. In the last 2 children a reduction of the E wave interested only the apical segments. There was a strong correlation between systolic and diastolic dysfunction: in fac…
Rationale for and design of the CREATIVE-AF trial: randomized, double-blind, placebo-controlled, crossover study of the effect of irbesartan on oxida…
2008
Background and objective: Atrial fibrillation (AF) is the most common cardiac arrhythmia. Recent studies suggest there is an angiotensin II-dependent increase in adhesion molecules and oxidative stress parameters during AF. These alterations appear to contribute to inflammatory and prothrombotic changes in the atrial endocardium (‘endocardial remodelling’), suggesting that patients with increased levels of these factors might be at risk of thromboembolic events. The purpose of the CREATIVE-AF (Impact of Irbesartan on Oxidative Stress and C-Reactive Protein Levels in Patients with Persistent Atrial Fibrillation) trial is to prove the principle concept that blockade of angiotensin II type 1 r…