No abstract

In 2013, a nationwide investigation was conducted in Switzerland to establish the population's exposure from medical X rays. A hybrid approach was used combining the Raddose database accessible on-line by the participating practices and the Swiss medical tariffication system for hospitals. This study revealed that the average annual number of examinations is 1.2 per inhabitant, and the associated annual effective dose is 1.4 mSv. It also showed that computed tomography is the most irradiating modality and that it delivers 70 % of the total dose. The annual effective dose per inhabitant registered a 17 % increase in 5 y and is comparable with what was recently reported in neighbouring countries.

No abstract

Mevalonate kinase deficiency has been documented in an 8-year-old child who presented with cerebellar ataxia, hypotonia and mevalonic aciduria. The activity of mevalonate kinase in extracts of cultured skin fibroblasts derived from the patient was approximately 2% of the mean value for controls. Family studies were carried out on the mother, the father and a sister, all of whom were clinically well. Mevalonate kinase activity in extracts of cultured skin fibroblasts and transformed lymphoblasts derived from the parents of the patient were 43%-52% of the mean control values. These data are consistent with an autosomal recessive mode of inheritance for mevalonate kinase deficiency.

No abstract