Li-Fraumeni syndrome is a rare autosomal dominant cancer-prone condition characterized by the occurrence of a large set of different types of cancer in a patient and their family. A germline disease-causing mutation of the gene encoding the p53 protein is associated with the syndrome. We report on a family in which segregation of a TP53 mutation in two generations was associated with two brain tumours, a leiomyosarcoma and a thyroid carcinoma in four male patients.
View Article and Find Full Text PDFNeuromodulation
April 2002
The calculation of the parameters of the pump is complicated for a mixture of two drugs in continuous intrathecal therapy with implantable and programmable pumps. It is important to determine the best proportion of drug solutions to obtain the desired clinical results and also to adapt their proportion to obtain the maximal volume of solution so that the time between two fillings is maximized. This paper proposes mathematical formulas that make easier and faster the calculation of the flow of the pump, the volume of each drug solution to be added to the pump, the concentration of each drug in the mixture, and the duration of the infusion.
View Article and Find Full Text PDFThe continuous intrathecal infusion of drugs with implantable and programmable pumps is commonly used for the treatment of otherwise intractable pain and spasticity. There is now a consensus that it is possible to use mixtures of two or even three drugs in selected cases. The calculation of the parameters of the pump is easy for a single drug, but it becomes more complicated for a combination of two or three drugs.
View Article and Find Full Text PDFPrimary amyloidosis may present as a pseudotumoral mass. Often associated with myeloma or paraproteinemia, it may also be isolated, without preexisting or associated disease. Isolated pseudotumoral bone involvement is rare and especially in the spine.
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