Search results for "LOCI"
showing 10 items of 1277 documents
A genome-wide association study identifies two loci associated with heart failure due to dilated cardiomyopathy
2011
Dilated cardiomyopathy (DCM) is a major cause of heart failure with a high familial recurrence risk. So far, the genetics of DCM remains largely unresolved. We conducted the first genome-wide association study (GWAS) to identify loci contributing to sporadic DCM.One thousand one hundred and seventy-nine DCM patients and 1108 controls contributed to the discovery phase. Pools of DNA stratified on disease status, population, age, and gender were constituted and used for testing association of DCM with 517 382 single nucleotide polymorphisms (SNPs). Three DCM-associated SNPs were confirmed by individual genotyping (P5.0 10(-7)), and two of them, rs10927875 and rs2234962, were replicated in ind…
Possible misclassification of cardiovascular risk by SCORE in antisynthetase syndrome: results of the pilot multicenter study RI.CAR.D.A
2020
Abstract Objectives To test the ability of an established traditional cardiovascular (CV) risk prediction score [Systematic COronary Risk Evaluation (SCORE)] and its EULAR modified version (mSCORE) to identify antisynthetase syndrome (ASyS) patients at high CV risk and to examine for the first time associations of CV and cerebrovascular surrogate markers with clinical and immunological ASyS parameters. Methods SCORE/mSCORE and the gold standard marker of aortic stiffness [carotid-femoral pulse wave velocity (cfPWV)] were examined in ASyS patients and healthy controls. Moreover, sonography of the common- (CCA) and internal- (ICA) carotid arteries was performed in subsets of both groups, eval…
Pre- and intraoperative methods of controlling cerebral circulation in giant aneurysm surgery.
1995
The surgical treatment of giant aneurysms usually requires temporary clipping of the aneurysmatic vessel. In planning the surgical approach and in applying temporary clips, the surgeon must consider collateral circulations. The functional integrity of the collateral vessels frequently decides the patient's outcome. In 8 patients with internal carotid artery giant aneurysm, measurements of blood flow velocities in the ipsilateral middle cerebral artery were performed preoperatively with transcranial Doppler ultrasound (TCD) during manual occlusion of the carotid artery at the neck. Three different perfusion patterns were established, and each collateral capacity was rated as insufficient, te…
Cerebral blood flow, computerized tomography and angiography in 562 cases of cerebrovascular insufficiency
1987
The measurement of cerebral blood flow (CBF) in addition to cerebral computerized tomography (CT) and angiography is most reliable in cases of transient ischemic attacks (TIA) and prolonged reversible ischemic neurologic deficits (PRIND). Alterations of CBF can be detected in symptom-free intervals. The cerebrovascular reactivity to CO2 stimulus is regarded as an especially suitable tool to prove the cerebrovascular reserve. If it is diminished, cerebral angiography should be carried out since it will often show major obstructive lesions. Angiography shows no sure correlation between CBF and collateral circulation. Strong opthalmic pathways in unilateral occlusion of the internal carotid ar…
Chronic Thromboembolic Pulmonary Hypertension: Pre- and Postoperative Assessment with Breath-hold MR Imaging Techniques
2004
To evaluate the potential of breath-hold magnetic resonance (MR) imaging techniques in morphologic and functional assessment of patients with chronic thromboembolic pulmonary hypertension (CTEPH) before and after surgery.Thirty-four patients with CTEPH were examined before and after pulmonary thromboendarterectomy (PTE). For morphologic assessment, contrast material-enhanced MR angiography was used; for assessment of hemodynamics, velocity-encoded gradient-echo sequences and cine gradient-echo sequences along the short axis of the heart were performed. Contrast-enhanced MR angiography was compared with selective digital subtraction angiography (DSA) for depiction of central thromboembolic m…
Magnetically labeled water perfusion imaging of the uterine arteries and of normal and malignant cervical tissue: initial experiences.
1998
Purpose: The aim of this pilot study was to evaluate a magnetically labeled water perfusion imaging technique as a non-contrast-enhanced approach to demonstrate the uterine artery, its branches, and to assess the cervical uterine blood flow in healthy volunteers and in patients with advanced uterine cervical carcinoma (FIGO IIB-IVA). Methods and Materials: Seven healthy volunteers (mean age, 29 years) and twenty-two patients (mean age, 52 years) with advanced cancer of the uterine cervix (FIGO IIB-IVA) were prospectively examined by magnetically labeled water perfusion imaging at different inversion delay times (300–900 ms). The magnetic resonance imaging (MRI) findings of all patients were…
A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration
2015
Genome-wide association studies have previously identified 23 genetic loci associated with circulating fibrinogen concentration. These studies used HapMap imputation and did not examine the X-chromosome. 1000 Genomes imputation provides better coverage of uncommon variants, and includes indels. We conducted a genome-wide association analysis of 34 studies imputed to the 1000 Genomes Project reference panel and including similar to 120 000 participants of European ancestry (95 806 participants with data on the X-chromosome). Approximately 10.7 million single-nucleotide polymorphisms and 1.2 million indels were examined. We identified 41 genome-wide significant fibrinogen loci ; of which, 18 …
Association of polygenic risk score with the risk of chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis
2018
IF 15.132 (2017); International audience; Inherited loci have been found to be associated with risk of chronic lymphocytic leukemia (CLL). A combined polygenic risk score (PRS) of representative single nucleotide polymorphisms (SNPs) from these loci may improve risk prediction over individual SNPs. Herein, we evaluated the association of a PRS with CLL risk and its precursor, monoclonal B-cell lymphocytosis (MBL). We assessed its validity and discriminative ability in an independent sample and evaluated effect modification and confounding by family history (FH) of hematological cancers. For discovery, we pooled genotype data on 41 representative SNPs from 1499 CLL and 2459 controls from the…
Optical noninvasive monitoring of skin blood pulsations
2005
Time-resolved detection and analysis of skin backscattered optical signals (remission photoplethysmography or PPG) provide rich information on skin blood volume pulsations and can serve for reliable cardiovascular assessment. Single- and multiple-channel PPG concepts are discussed. Simultaneous data flow from several locations on the human body allows us to study heartbeat pulse-wave propagation in real time and to evaluate vascular resistance. Portable single-, dual-, and four-channel PPG monitoring devices with special software have been designed for real-time data acquisition and processing. The prototype devices have been clinically studied, and their potential for monitoring heart arrh…
Correlation of cerebral blood flow and MCA flow velocity measured in healthy volunteers during acetazolamide and CO2 stimulation
1995
Abstract The assessment of the cerebrovascular reserve capacity (RC) has become a widely used tool in the management of cerebrovascular disease. Discrepancies become obvious, however, if results obtained with different methods are compared. Aim of the present study, therefore, was to compare blood velocity and cerebral perfusion data in the same group of healthy test persons. In 32 volunteers regional cerebral blood flow (rCBF) was measured with the 133 Xe-inhalation method. F1 as grey matter flow and the initial slope index (ISI) were computed. Simultaneously flow velocity in the middle cerebral artery (V MCA ) was assessed by transcranial Doppler sonography (TCD). Measurements were perfor…