Premature calvarial synostosis and epidermal hyperplasia (Beare-Stevenson syndrome-like anomalies) resulting from a P250R missense mutation in the gene encoding fibroblast growth factor receptor 3

We report on a patient with a severe premature calvarial synostosis and epidermal hyperplasia. The phenotype was consistent with that of a mild presentation of Beare-Stevenson syndrome but molecular analysis of the IgIII-transmembrane linker region and the transmembrane domain of the gene encoding the FGFR2 receptor, revealed wild-type sequence only. Subsequently, molecular analysis of the FGFR3 receptor gene identified a heterozygous P250R missense mutation in both the proposita and her mildly affected father. This communication extends the clinical spectrum of the FGFR3 P250R mutation to encompass epidermal hyperplasia and documents the phenomenon of activated FGFR receptors stimulating common downstream developmental pathways, resulting in overlapping clinical outcomes. (C) 2001 Wiley-Liss, Inc.

A simple rule of thumb for elegant prehension

Reaching out to grasp an object (prehension) is a deceptively elegant and skilled behavior. The movement prior to object contact can be described as having two components [1], the movement of the hand to an appropriate location for gripping the object, the transport component, and the opening and closing of the aperture between the fingers as they prepare to grip the target, the grasp component. The grasp component is sensitive to the size of the object, so that a larger grasp aperture is formed for wider objects [1]; the maximum grasp aperture (MGA) is a little wider than the width of the target object and occurs later in the movement for larger objects [1, 2]. We present a simple model that can account for the temporal relationship between the transport and grasp components, We report the results of an experiment providing empirical support for our rule of thumb. The model provides a simple, but plausible, account of a neural control strategy that has been the center of debate over the last two decades.

Australian Broadcasting Corporation v Lenah Game Meats Pty Ltd

Principle issues considered in Australian Broadcasting Corporation v Lenah Game Meats Pty Ltd - whether it was necessary to show a cause of action for an interlocutory injunction to be granted - whether a right to privacy existed - whether the ABC was protected in this case by an implied constitutional freedom - majority rejected a wide interpretation on grounds upon which an interlocutory injunction could be granted - recognition of the possibility of a tort of invasion of privacy under Australian law by five of the six judges.

Applied physiology and game analysis of rugby union

Increased professionalism in rugby has elicited rapid changes in the fitness profile of elite players. Recent research, focusing on the physiological and anthropometrical characteristics of rugby players, and the demands of competition are reviewed. The paucity of research on contemporary elite rugby players is highlighted, along with the need for standardised testing protocols. Recent data reinforce the pronounced differences in the anthropometric and physical characteristics of the forwards and backs. Forwards are typically heavier, taller, and have a greater proportion of body fat than backs. These characteristics are changing, with forwards developing greater total mass and higher muscularity. The forwards demonstrate superior absolute aerobic and anaerobic power, and Muscular strength. Results favour the backs when body mass is taken into account. The scaling of results to body mass can be problematic and future investigations should present results using power function ratios. Recommended tests for elite players include body mass and skinfolds, vertical jump, speed, and the multi-stage shuttle run. Repeat sprint testing is a possible avenue for more specific evaluation of players. During competition, high-intensity efforts are often followed by periods of incomplete recovery. The total work over the duration of a game is lower in the backs compared with the forwards; forwards spend greater time in physical contact with the opposition while the backs spend more time in free running, allowing them to cover greater distances. The intense efforts undertaken by rugby players place considerable stress on anaerobic energy sources, while the aerobic system provides energy during repeated efforts and for recovery. Training should focus on repeated brief high-intensity efforts with short rest intervals to condition players to the demands of the game. Training for the forwards should emphasise the higher work rates of the game, while extended rest periods can be provided to the backs. Players should not only be prepared for the demands of competition, but also the stress of travel and extreme environmental conditions. The greater professionalism of rugby union has increased scientific research in the sport; however, there is scope for significant refinement of investigations on the physiological demands of the game, and sports-specific testing procedures.

A Digital Game Development Education Project

The success of the digital game industry is spawning several undergraduate degrees aiming at the training of digital game developers. Building adequate new courses curricula is not a trivial task and demands a profound analysis of the scientific areas to introduce as well as the dependencies throughout the entire degree. Another important aspect of every academic educational plan are the satellite projects that promote entrepreneurship and provide practical professional experiences to students. This paper presents the main guidelines adopted in the creation of the first digital game development undergraduate degree created in Portugal.

A digital game development education project

The success of the digital game industry is spawning several undergraduate degrees aiming at the training of digital game developers. Building adequate new courses curricula is not a trivial task and demands a profound analysis of the scientific areas to introduce as well as the dependencies throughout the entire degree. Another important aspect of every academic educational plan are the satellite projects that promote entrepreneurship and provide practical professional experiences to students. This paper presents the main guidelines adopted in the creation of the first digital game development undergraduate degree created in Portugal.

A mobile health care rule-based system

The relation between patient and physician in most modern Health Care Sys- tems is sparse, limited in time and very in exible. On the other hand, and in contradiction with several recent studies, most physicians do not rely their patient diagnostics evaluations on intertwined psychological and social nature factors. Facing these problems and trying to improve the patient/physician relation we present a mobile health care solution to im- prove the interaction between the physician and his patients. The solution serves not only as a privileged mean of communication between physicians and patients but also as an evolutionary intelligent platform delivering a mobile rule based system.