Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

Background Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES).We describe new families carrying the p.S13F or p.N342D DES mutations, the cardiac phenotype of all carriers, and the founder effects. Methods We collected the clinical details of all carriers of p. S13F or p.N342D. The founder effects were studied using genealogy and haplotype analysis. Results We identified three new index patients carrying the p.S13F mutation and two new families carrying the p.N342D mutation. In total, we summarised the clinical details of 39 p. S13F carriers (eight index patients) and of 21 p.N342D carriers (three index patients). The cardiac phenotype of p.S13F carriers is fully penetrant and severe, characterised by cardiac conduction disease and cardiomyopathy, often with right ventricular involvement. Although muscle weakness is a prominent and presenting symptom in p.N342D carriers, their cardiac phenotype is similar to that of p.S13F carriers. The founder effects of p.S13F and p.N342D were demonstrated by genealogy and haplotype analysis. Conclusion DRM may occur as an apparently isolated cardiological disorder. The cardiac phenotypes of the DES founder mutations p.S13F and p.N342D are characterised by cardiac conduction disease and cardiomyopathy, often with right ventricular involvement

Extra cardiac findings by 64-multidetector computed tomography in patients with symptomatic atrial fibrillation prior to pulmonal vein isolation

The aim of this study was to investigate the prevalence of extracardiac findings diagnosed by 64-multidetector computed tomography (MDCT) examinations prior to circumferential pulmonary vein (PV) ablation of atrial fibrillation (AF). A total of 158 patients (median age, 60.5 years; male 68%) underwent 64-MDCT of the chest and upper abdomen to characterize left atrial and PV anatomy prior to AF ablation. MDCT images were evaluated by a thoracic radiologist and a cardiologist. For additional scan interpretation, bone, lung, and soft tissue window settings were used. CT scans with extra-cardiac abnormalities categorized for the anatomic distribution and divided into two groups: Group 1—exhibiting clinically significant or potentially significant findings, and Group 2—patients with clinically non-significant findings. Extracardiac findings (n = 198) were observed in 113/158 (72%) patients. At least one significant finding was noted in 49/158 patients (31%). Group 1 abnormalities, such as malignancies or pneumonias, were found in 85/198 findings (43%). Group 2 findings, for example mild degenerative spine disease or pleural thickening, were observed in 113/198 findings (72%). 74/198 Extracardiac findings were located in the lung (37%), 35/198 in the mediastinum (18%), 8/198 into the liver (4%) and 81/198 were in other organs (41). There is an appreciable prevalence of prior undiagnosed extracardiac findings detected in patients with AF prior to PV-Isolation by MDCT. Clinically significant or potentially significant findings can be expected in ~40% of patients who undergo cardiac MDCT. Interdisciplinary trained personnel is required to identify and interpret both cardiac and extra cardiac findings

Verfahren und Vorrichtung zum Herstellen eines Farbfilters, dadurch hergestellter Farbfilter sowie Verfahren zum Herstellen eines Grundkoerpers fuer eine solche Vorrichtung

The method involves applying dyes (30, 31, 32, 33) through a digital, high-resolution printing process on a substrate (20). Individual pads (11) on a main body (10) of a device (1) are charged with a positive or negative electrostatic charge, the dyes are applied on the charged pads, and the surface (23) of the filter substrate is layered under the application of a force with the charged pads. USE - Especially for flat image display, e.g. active-matrix LCD. ADVANTAGE - Provides improved resolution of colour filter and improved image quality

VORRICHTUNG UND VERFAHREN ZUR UEBERWACHUNG UND STEUERUNG EINES FAHRZEUGS

WO2004048912 A UPAB: 20040702 NOVELTY - System to control and/or monitor and/or regulate a vehicle or aircraft has a sensor to receive an operating condition value, and a signal processing unit. The sensor is formed by an amorphous carbon layer with piezoresistive characteristics. The sensor can measure force components in different directions (x,y) and can determine a torque. DETAILED DESCRIPTION - System to control and/or monitor and/or regulate a vehicle or aircraft has a sensor to receive an operating condition value, and a signal processing unit. The sensor is formed by an amorphous carbon layer with piezoresistive characteristics. The sensor can measure force components in different directions (x,y) and can determine a torque. Two sensors (1,1,2,2) are used for each direction, so that a constant load in the x-direction generates an identical signal at both sensors, and the same applies for the sensors in the y-direction. A difference at the y-sensors shows a torque around the y-axis which can be determined from the force difference and the known gap. USE - For use on or in a rail vehicle and the permanent way rail, to register the load distribution over a load-carrying surface or an aircraft cargo hold surface, the center of gravity of a load, the force distribution at vehicle wheel mountings, the acceleration or wheel slip or imbalance of vehicle wheel or low tire pressures, the load or load distribution at a vehicle seat, the load or its distribution at an airbag control, the forces on a motor suspension etc. ADVANTAGE - The novel vehicle/aircraft sensor system gives increased security with improved comfort. It can also give information about loads being carried. The sensor can be integrated into the component being monitored without joints, distortion, or constructive modifications

Mechanische Komponente mit mehreren Verschleisssensoren

Mechanical components are provided with several wear sensors to establish their operational state with respect to wear. These components are characterised by the fact that the wear sensors (11-15) are arranged in such a way that resolution of wear locality is possible. USE - In tools and machinery. ADVANTAGE - More accurate and detailed information about the state of wear is made available

Kangerdlugssuaq (Westgroenland) Hydrographische Untersuchungen der Internationalen Groenlandexpedition EGIG 1959. V.F.S. 'GAUSS': 2.8-16.8.1959

Available from TIB Hannover: RA430(67) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Basistechnologie fuer die Roentgenhalbleiter Abschlussbericht

TIB: RN 3289(643) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman

Weiterentwicklung von SiC/W-Masken und Anwendung der Roentgenlithografie zur Herstellung von komplexen VLSI-Schaltungen 2. Zwischenbericht

Available from TIB Hannover: RN 3289(697) / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekSIGLEDEGerman