A novel homozygous missense mutation (Val 325-->Ala) in the protein C gene causing neonatal purpura fulminans.

A novel homozygous GTG-->GCG (Val 325-->Ala) substitution was detected in the protein C gene of a newborn causing severe purpura fulminans post partum. In the consanguineous parents and two further infants a heterozygous type 1 protein C deficiency was found. Up to now the heterozygous individuals are clinically unaffected. The mutation co-segregates with the protein C deficiency state. It creates a restriction enzyme (Sac II) cleavage site.

[Restrictive cardiomyopathy as a late sequel of influenza A2 virus myocarditis]. / Restriktive Kardiomyopathie als Spätfolge einer Influenza-A2-Virus-Myokarditis.

A clinically acute myocarditis with an increase of the influenza A2-virus titer marks the beginning of a ten year history leading to a restrictive cardiomyopathy, complicated by an exudative enteropathy. Two serial endomyocardial biopsies reveal an increasing interstitial fibrosis. Virus myocarditis as a cause of restrictive cardiomyopathy, which corresponds to the old term "myocardial fibrosis", is discussed.

[Which is the best methotrexate schedule for maintenance therapy of childhood ALL? A randomized study]. / Randomisierte Studie zur Methotrexatapplikation in der Erhaltungstherapie der akuten lymphoblastischen Leukämie im Kindesalter.

58 children were admitted to a prospective randomized leukemia induction and CNS-prophylaxis three different protocols were followed for maintenance. A (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (20-30 mg/m2) p.o. weekly; B (n = 20): 6-MP (50 mg/m2) p.o. daily + MTX (75-150 mg/m2) i.v. every two weeks; C (n = 18): 6-MP (50 mg/m2) p.o. daily + alternating 8-week-courses of four biweekly i.v. injections of MTX (75-150 mg/m2) and four biweekly i.v. injections of Cyclo (600 mg/m2). After all patients have been followed for at least 48 months, the rates of continuous complete remission are 42% in protocol A, 63% in protocol B, and 29% in protocol C. No encephalopathies have been observed with regimen B.

[Isovaleric acidemia combined with hypertrophic pylorstenosis (author's transl)]. / Isovalerianacidämie kombiniert mit hypertrophischer Pylorusstenose.

A case of isovaleric acidemia combined with hypertrophic pylorostenosis is described. The diagnostic procedure, the biochemical findings as well as the performed therapy are discussed. Additionally the patient was successfully operated upon a pyloromyotomy. Thus the patient suffered form two conditions which are always to be considered in terms of differential diagnosis.