Molecular biology and clinical manifestation of hereditary factor VII deficiency.

Inherited factor VII (FVII) deficiency is a rare autosomal recessive disorder. Mutations and polymorphisms of the FVII gene were characterized in more than 40 unrelated patients with FVII deficiency. Among the 29 different mutations, the most frequent were Ala294 Val, Ala294Val;404delC, IVS7+7, and Val281 Phe.

Hereditary spastic paraplegia caused by mutations in the SPG4 gene.

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a genetically heterogeneous neurodegenerative disorder characterised by progressive spasticity of the lower limbs. The SPG4 locus at 2p21-p22 accounts for 40-50% of all AD-HSP families. The SPG4 gene was recently identified.

[Morbidity and mortality in 1984-1985 of premature infants in breech presentation with a birth weight equal to or less than 1,500 g. A prospective study on the question of vaginal or abdominal delivery].

The effect of the obstetrician's choice for delivery route on the early morbidity and mortality of very low birth weight infants in breech presentation (less than or equal to 1500 g) was studied prospectively in 22 children. Criteria of the morbidity were beside antenatal cardiotocogram, the Apgar-score at 1, 5 and 60 min., the cord venous pH-value and the duration of assisted ventilation after immediate delivery.