Pulmonary involvement in tuberous sclerosis complex: presentation of a case.

A clinical case of a pulmonary involvement in Tuberous Sclerosis Complex is reported. This rare involvement (1%) is characterized by either interstitial disease or bullae; therefore, pneumothorax is likely to happen in lung parenchyma. Furthermore this complication induces a progressive serious respiratory failure until the death of the patient.

Non-radioactive detection of ß-glucuronidase and chloramphenicol acetyltransferase activities in co-transformed protoplasts by HPLC.

The use of transient gene expression assays for the study of natural or engineered plant promoters is affected by a considerable degree of inter-experiment variability. As a means of obtaining interpretable data from a limited number of experiments, we worked out conditions for the simultaneous determi nation of the activity of two reporter genes, a "sample" and a "reference", ona single extract of co-transformed protoplasts. ß-glucuronidase (GUS) and chloramphenicol acetyl transferase (CAT) genes, both under the control of the CaMV 35S promoter, were transferred into tobacco (Nicotiana tabacum L.) protoplasts on two independent plasmids. The parallel expression of the two reporter genes in several independent co-transformation experiments was verified. Conditions for the use of a single protoplast extraction buffer and for the simultaneous assay of both reporter gene activities were set up. A HPLC method for the non-radioactive determination of both enzyme activities on a single aliquot of the reaction mixture was developed. The resulting procedure was tested using the GUS gene as "reference" and the CAT gene, under the control of either wild type or upstream-deleted (-90) CaMV 35S promoter, as "sample". The protocol is simple and allows the fast analysis of plant promoters in the presence of a true internal standard under conditions in which assay manipulations are reduced to a minimum and both reporter gene activities are subjected to the same experimental treatments.

Ion trap detector--capillary gas chromatography of valproic acid and its mono-unsaturated metabolites in serum using methyl ester derivatives.

A quantitative method was developed for valproic acid and five of its mono-unsaturated metabolites using capillary gas chromatography-mass spectrometry with selected ion monitoring. The method was applied to serum and all metabolites were measured in a single run. Methyl esters were synthesized as the derivatives suitable for gas chromatography. Calibration curves were found to be linear and the sensitivities in the order of 0.1 micrograms ml-1. Patients' data are presented. By this method it is possible to separate the stereoisomers of 2-n-propyl-2-pentenoic acid and of 2-n-propyl-3-pentenoic acid.