No abstract

Severe myoclonic epilepsy in infancy (SMEI), severe idiopathic generalized epilepsy of infancy (SIGEI) with generalized tonic clonic seizures (GTCS), and myoclonic astatic epilepsy (MAE) may show semiological overlaps. In GEFS+ families, all three phenotypes were found associated with mutations in the SCN1A gene. We analyzed the SCN1A gene in 20 patients with non-familial myoclonic astatic epilepsy -- including 12 probands of the original cohort used by Doose et al. in 1970 to delineate MAE. In addition, 18 patients with sporadic SIGEI -- mostly without myoclonic-astatic seizures -- were analyzed. Novel SCN1A mutations were found in 3 individuals. A frame shift resulting in an early premature stop codon in a now 35-year-old woman with a borderline phenotype of MAE and SIGEI (L433fsX449) was identified. A splice site variant (IVS18 + 5 G --> C) and a missense mutation in the conserved pore region (40736 C --> A; R946 S) were detected each in a child with SIGEI. We conclude that, independent of precise syndromic delineation, myoclonic-astatic seizures are not predictive of SCN1A mutations in sporadic myoclonic epilepsies of infancy and early childhood.

einer Studie an mehr als 1200 gesunden, berufstätigen Probanden zwischen 15 und 70 Jahren werden neue Normaiwerte für Vitalkapazität, Residualvolumen, funktionelle Residualkapazität, Totalkapazität, Sekundenkapazität und Bronchialwiderstand mitgeteilt. Der Zusammenhang dieser Meßgrößen mit Geschlecht, Alter, Größe und Relativgewicht wird durch Multivarianzanalyse nachgewiesen, wobei sehr häufig nichtlineare Abhängigkeit gefunden wurde.

The characteristic intracardiac pressure patterns of four patients with constrictive pericarditis are described. The significance of a high ratio between right ventricular end-diastolic and systolic pressure is demonstrated. Postoperative changes are described in one patient and the mechanism of the production of the pressure patterns is discussed.