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

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

Basistechnologie fuer die Roentgenhalbleiter Abschlussbericht

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

Intelligente Werkzeuge durch integrierte Mikrosysteme-INGWER Abschlussbericht

The task of this scientific pre-project INGWER was related to investigations in the field of microsystem and coating technology with the aim of proving the realization of smart tools. To this novel thin film sensors have been integrated in wear resistant coatings for inserts. As a result of this, direkt measurement of temperatur and wear taken right at the centre of maximum load during turning operations have been performed. For on-line signal generation and transfer micro contacts have been used in combination with a microelectronic circuit adapted to the shaft of the lathe tool. For the realization of the sensor networks commercial inserts have been used which were coated with 3-8 #mu#m thick films of Al_2O_3 and on top of that with films of 0,5 #mu#m thickness for the sensor layer. For structuring of the sensor level photolithographic techniques as well as direct writing and masks based laser techniques have been investigated successfully. The electric circuits elements as well as the sensors were fabricated by using only one layer. Results with good perspectives have been obtained with CrNi and CrN. The layer system was continued by sputtering an Al_2O_3 layer next to the sensor level. The microsystem fabricated by means of the discribed techniques was tested by running turning processes of aluminium alloys. It turned out, that depending on the turning parameters, temperatures in the centre of the crater wear area between 200 C and 400 C have been measured. Tests performed with workpices of steel CK45 showed, that the wear resistance of the sensor integrated coating must be improved in future. (orig.)SIGLEAvailable from TIB Hannover: F99B1529+a / FIZ - Fachinformationszzentrum Karlsruhe / TIB - Technische InformationsbibliothekBundesministerium fuer Bildung und Forschung (BMBF), Bonn (Germany)DEGerman