[Pulmonary hypertension and pregnancy].

A 36 year old woman, with an 18 year history of syncope, became pregnant shortly after a cardiac catheterization demonstrated a high pulmonary arterial pressure and resistance and a low cardiac output. During pregnancy she remained stable at NYHA FC III, on nifedipine, apresoline, isosorbide, aspirin and bed rest. At 28 weeks, catheterization showed a decreased pulmonary pressure and an increased cardiac output.

Triosephosphate isomerase deficiency: haemolytic anaemia, myopathy with altered mitochondria and mental retardation due to a new variant with accelerated enzyme catabolism and diminished specific activity.

A new triosephosphate isomerase (TPI) variant is described in an 8-year-old Turkish girl suffering from chronic haemolytic anaemia, myopathy and developmental retardation since early infancy. The enzyme activity profile revealed a generalized deficiency in erythrocytes, granulocytes, mononuclear blood cells, skeletal muscle tissue and cerebrospinal fluid. The concentration of enzyme substrate dihydroxyacetone phosphate was distinctly elevated.