BACKGROUND In the past few years there has been a political imperative driving the creation of European Reference Networks as these are considered a promising way to achieve equity in access to the most up to date medical care across Europe. The right to equity in the access to care was established by the directive of the European Parliament and of the Council on the application of patients' ri...

INTRODUCTION This paper suggests and tests a reason why the public might support the funding of services for rare diseases (SRDs) when the services are effective but not cost effective, i.e. when more health could be produced by allocating funds to other services. It is postulated that the fairness of funding a service is influenced by a comparison of the average patient benefit with the averag...

The use of the term 'odds ratio' in reporting the findings of case-control studies is technically correct, but is often misleading. The meaning of the odds ratio estimates obtained in a case-control study differs according to whether controls are selected from person-time at risk (the study base), persons at risk (the base-population at risk at the beginning of follow-up), or survivors (the pop...

XVII

Principal publications and authors D. Antonangeli (a), M. Krisch (a), G. Fiquet (b), D.L. Farber (c), C.M. Aracne (c), J. Badro (b,c), F. Occelli (c), H. Requardt (a), Phys. Rev. Lett, 93, 215505 (2004); D. Antonangeli (a), F. Occelli (a), H. Requardt (a), J. Badro (b), G. Fiquet (b), M. Krisch (a), Earth Planet. Sci. Lett., 225, 243-251 (2004). (a) ESRF (b) Laboratorie de Minéralogie Cristallo...

Approximately 50% of rare diseases are evident in children. Fatal disease prognosis and lack of treatments causes 30% of affected children to not live past their fifth birthday. This clear sense of urgency demands innovation and acceleration in drug development. A case study is discussed highlighting the need for data-rich phase I study design, extensive use of modeling and simulation, use of d...

Für die Therapie-Planung in der Neurochirurgie ist die Lokalisierung neuronaler Bahnen von großer Bedeutung, da diese während der OP nicht verletzt werden dürfen. Da der Verlauf neuronaler Bahnen auf anatomischen Magnet-Resonanz-TomografieAufnahmen (MRT) nicht ersichtlich ist, kommt die Diffusionsbildgebung zum Einsatz. Dieses Bildgebungsverfahren ermöglicht Rückschlüsse auf die Lage und den Ve...

Motivated by a Finnish case-control study of early onset diabetes in which diabetic children are matched to sibling controls, we investigate ascertainment bias of the usual rate ratio estimator from case-control data under simplex complete ascertainment of families during a fixed interval of time. Analytic results indicate that the assumptions necessary for valid estimation are that the disease...

http://bmj.com/cgi/content/full/331/7523/1019 Updated information and services can be found at: These include: References http://bmj.com/cgi/content/full/331/7523/1019#otherarticles 3 online articles that cite this article can be accessed at: Rapid responses http://bmj.com/cgi/eletter-submit/331/7523/1019 You can respond to this article at: http://bmj.com/cgi/content/full/331/7523/1019#response...

Background The evaluation of treatments for rare diseases presents a number of challenges for trial practitioners, regulators and policy makers. Small sample sizes mean that ‘standard’ approaches to trial design and analysis may not be appropriate and alternatives such as Bayesian trial designs have been recommended [Lilford et al 1995]. However, little is known about the design and analysis ap...