Design, optimisation and testing of a compact, inexpensive elastic element for series elastic actuators.

This paper presents the development of a compact torsion spring for use as an elastic element in a lightweight series elastic actuator for an active orthosis. This orthosis is going to be utilised as an assistive device for motorically impaired stroke-patients. In the design a two-step optimisation strategy was implemented to meet all requirements for the torsion spring. The first step was to identify a promising topology for the element. In the second step, the shape was optimised based on a finite element model using two different optimisation methods in order to minimise the von Mises equivalent stresses. Four promising variants of the identified topology were extracted from these calculations, one of which was then chosen as the final design. A prototype was manufactured by a laser cutting process, which is a new procedure in the context of elastic elements for series elastic actuators. The calculation results were validated successfully by measurement of the spring properties of this prototype.

Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

Noncompaction of the ventricular myocardium (NVM) is the morphological hallmark of a rare familial or sporadic unclassified heart disease of heterogeneous origin. NVM results presumably from a congenital developmental error and has been traced back to single point mutations in various genes. The objective of this study was to determine the underlying genetic defect in a large German family suffering from NVM. Twenty four family members were clinically assessed using advanced imaging techniques. For molecular characterization, a genome-wide linkage analysis was undertaken and the disease locus was mapped to chromosome 14ptel-14q12. Subsequently, two genes of the disease interval, MYH6 and MYH7 (encoding the alpha- and beta-myosin heavy chain, respectively) were sequenced, leading to the identification of a previously unknown de novo missense mutation, c.842G>C, in the gene MYH7. The mutation affects a highly conserved amino acid in the myosin subfragment-1 (R281T). In silico simulations suggest that the mutation R281T prevents the formation of a salt bridge between residues R281 and D325, thereby destabilizing the myosin head. The mutation was exclusively present in morphologically affected family members. A few members of the family displayed NVM in combination with other heart defects, such as dislocation of the tricuspid valve (Ebstein's anomaly, EA) and atrial septal defect (ASD). A high degree of clinical variability was observed, ranging from the absence of symptoms in childhood to cardiac death in the third decade of life. The data presented in this report provide first evidence that a mutation in a sarcomeric protein can cause noncompaction of the ventricular myocardium.