A novel ACVR1 mutation in the glycine/serine-rich domain found in the most benign case of a fibrodysplasia ossificans progressiva variant reported to date

Fibrodysplasia Ossificans Progressiva (FOP) is a rare, autosomal dominant condition, classically characterised by heterotopic ossification beginning in childhood and congenital great toe malformations; occurring in response to a c.617 G>A ACVR1 mutation in the functionally important glycine/serine-rich domain of exon 6. Here we describe a novel c.587 T>C mutation in the glycine/serine-rich domain of ACVR1, associated with delayed onset of heterotopic ossification and an exceptionally mild clinical course. Absence of great toe malformations, the presence of early ossification of the cervical spine facets joints, plus mild bilateral camptodactyly of the 5th fingers, together with a novel ACVR1 mutation, are consistent with the 'FOP-variant' syndrome. The c.587 T>C mutation replaces a conserved leucine with proline at residue 196. Modelling of the mutant protein reveals a steric clash with the kinase domain that will weaken interactions with FKBP12 and induce exposure of the glycine/serine-rich repeat. The mutant receptor is predicted to be hypersensitive to ligand stimulation rather than being constitutively active, consistent with the mild clinical phenotype. This case extends our understanding of the 'FOP-variant' syndrome.

Towards a framework for business process standardization

Organizations increasingly seek to achieve operational excellence by standardizing business processes. Standardization initiatives may have different purposes, such as process streamlining, process automation, or even process outsourcing. However, standardization of processes is easier said than done. Standardization success depends on various factors, such as existent IT capabilities, available standard frameworks, market situation, and the processes’ nature, such as their level of routine or structuredness. This paper uncovers the complex nature and relative influence of process-internal and -environmental factors relevant to process standardization, by discussing three case studies from different industries. The findings are summarized in a set of initial conjectures about successful process standardization. This exploratory research is a first step towards uncovering the characteristics of successful process standardization efforts.

Autonomous excavation using a rope shovel

This paper describes automation of the digging cycle of a mining rope shovel which considers autonomous dipper (bucket) filling and determining methods to detect when to disengage the dipper from the bank. Novel techniques to overcome dipper stall and the online estimation of dipper “fullness” are described with in-field experimental results of laser DTM generation, machine automation and digging using a 1/7th scale model rope shovel presented.

Visual motion estimation for an autonomous underwater reef monitoring robot

Performing reliable localisation and navigation within highly unstructured underwater coral reef environments is a difficult task at the best of times. Typical research and commercial underwater vehicles use expensive acoustic positioning and sonar systems which require significant external infrastructure to operate effectively. This paper is focused on the development of a robust vision-based motion estimation technique using low-cost sensors for performing real-time autonomous and untethered environmental monitoring tasks in the Great Barrier Reef without the use of acoustic positioning. The technique is experimentally shown to provide accurate odometry and terrain profile information suitable for input into the vehicle controller to perform a range of environmental monitoring tasks.