Challenges in the management of Phenylketonuria in Malta

Phenylketonuria (PKU) is a rare metabolic disorder comprising a number of different enzyme deficiencies. In Malta, dihydropteridine reductase (DHPR) deficiency appears to be more common than phenylalanine hydroxylase deficiency (classical PKU), and is associated with greater and long term neurodisability. The absence of newborn screening for PKU in Malta results in a later diagnosis and, to-date, all affected patients require medical support for one or several problems including developmental delay, behavioural issues, cognitive impairment, epilepsy and neurodisability. These are compounded by problems in providing and adhering to strict low-phenylalanine diets and, in those with DHPR, the regular provision of neurotransmitter and cofactor supplementation. As a result, although a small cohort, these patients create a disproportionate demand on health services and, in most cases, will continue to require long term support at all levels since most will be unable to lead an independent existence. A radical and comprehensive overhaul of the local care provided to children with rare metabolic diseases is required at all levels, starting with the introduction of newborn screening, followed by effective dietary and pharmaceutical provision throughout childhood and through to later life.peer-reviewe

Focal Spot, Commemorative Issue/Spring 1992

https://digitalcommons.wustl.edu/focal_spot_archives/1060/thumbnail.jp

Nanoinformatics: developing new computing applications for nanomedicine

Nanoinformatics has recently emerged to address the need of computing applications at the nano level. In this regard, the authors have participated in various initiatives to identify its concepts, foundations and challenges. While nanomaterials open up the possibility for developing new devices in many industrial and scientific areas, they also offer breakthrough perspectives for the prevention, diagnosis and treatment of diseases. In this paper, we analyze the different aspects of nanoinformatics and suggest five research topics to help catalyze new research and development in the area, particularly focused on nanomedicine. We also encompass the use of informatics to further the biological and clinical applications of basic research in nanoscience and nanotechnology, and the related concept of an extended ?nanotype? to coalesce information related to nanoparticles. We suggest how nanoinformatics could accelerate developments in nanomedicine, similarly to what happened with the Human Genome and other -omics projects, on issues like exchanging modeling and simulation methods and tools, linking toxicity information to clinical and personal databases or developing new approaches for scientific ontologies, among many others

Modeling Stroke Diagnosis with the Use of Intelligent Techniques

The purpose of this work is to test the efficiency of specific intelligent classification algorithms when dealing with the domain of stroke medical diagnosis. The dataset consists of patient records of the ”Acute Stroke Unit”, Alexandra Hospital, Athens, Greece, describing patients suffering one of 5 different stroke types diagnosed by 127 diagnostic attributes / symptoms collected during the first hours of the emergency stroke situation as well as during the hospitalization and recovery phase of the patients. Prior to the application of the intelligent classifier the dimensionality of the dataset is further reduced using a variety of classic and state of the art dimensionality reductions techniques so as to capture the intrinsic dimensionality of the data. The results obtained indicate that the proposed methodology achieves prediction accuracy levels that are comparable to those obtained by intelligent classifiers trained on the original feature space

VCU Media Lab

We propose the establishment of a VCU Media Lab – a professional creative media technology unit whose mission is to support the development, design, production and delivery of innovative media, multimedia, computer-based instruction, publications and tools in support of VCU education, research and marketing initiatives. This centrally administered, budgeted and resourced facility will acknowledge, refine, focus and expand media services that are currently being provided at VCU in a decentralized manner