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.

Thrombosis of the deep cerebral veins with excessive bilateral infarction in a premature infant with the thrombogenic 4G/4G genotype of the plasminogen activator inhibitor-1.

Unlabelled: We report on a preterm infant with deep cerebral venous thrombosis, a rare condition in this age group. This premature infant had a gestational age of 33 weeks and normal development until day 18, when he presented with tonic seizures and a tense fontanelle. Ultrasound and computed tomography revealed bilateral haemorrhagic infarction of the whole region drained by the deep cerebral veins, including the periventricular white matter, thalamus and choroid plexus.

Thrombolysis in newborns and infants.

This review analyses literature reports from 1970 to 1998 assessing the use of streptokinase (SK), urokinase (UK) or recombinant tissue-type plasminogen activator (rt-PA) for thrombolytic therapy in neonates and infants. From 1970 to 1998 182 infants were reported to have received SK (n = 54; 29.5%), UK (n = 41; 22.

Prevalence and outcome of intracranial haemorrhage in haemophiliacs--a survey of the paediatric group of the German Society of Thrombosis and Haemostasis (GTH).

Unlabelled: A survey among centres of the paediatric group of the GTH was performed to evaluate the prevalence and outcome of haemophiliacs with intracerebral haemorrhage. A questionnaire sent to the centres covered the following points: number of patients with severe, moderate and mild haemophilia A and B; for each patient with ICH: birth date, age at bleeding, aetiology and neurological sequelae. Overall, 30 ICH in 744 haemophiliacs (4.

The low molecular weight heparin dalteparin for prophylaxis and therapy of thrombosis in childhood: a report on 48 cases.

Unlabelled: We investigated the efficacy, safety and relation of dose to plasma anti-Xa activity of the low molecular weight heparin (LMWH) dalteparin in prophylaxis and therapy of arterial and venous thrombosis in pediatric patients. A total of 48 children were enrolled: 10 received dalteparin for prophylaxis (group I), 8 for reocclusion prophylaxis following successful thrombolysis (group II), 5 following failed thrombolysis (group III) and 23 for primary antithrombotic therapy (group IV). Two children were treated with dalteparin for pulmonary veno-occlusive disease (PVOD) and for primary pulmonary hypertension (PPH), respectively.