There is no comprehensive study on the stability of coagulation analytes in plasma. We therefore determined the influence of storage time and temperature on prothrombin time, activated partial thromboplastin time, thrombin time, fibrinogen, factors V and VIII, antithrombin III, protein C and S in plasma from 20 healthy subjects and 20 patients receiving heparin therapy. The stability in plasma, defined as the period during which there was a change of less than 10% from the initial value, was 8 hours for activated partial thromboplastin time, 24 hours for prothrombin time, 48 hours for factor V and 7 days for thrombin time, fibrinogen, protein C and antithrombin III in healthy subjects at 6 degrees C. Factor VIII and protein S showed 19 and 12 % reduction in activity, respectively, after 8 hours. In volunteers not treated with heparin therapy, activated partial thromboplastin time was stable for 8 hours; prothrombin time for 48 hours; and thrombin time, fibrinogen and antithrombin III for 7 days with sample storage at room temperature. Factor VIII showed a decrease of 18 % after 8 hours. For patients receiving heparin therapy, the stability of the analytes in plasma stored at 6 degrees C was 8 hours for thrombin time, 24 hours for prothrombin time and activated partial thromboplastin time and 7 days for fibrinogen and antithrombin III. Factors V and VIII showed a decrease of 13 % and 20 % respectively after 8 hours. When the plasma of these patients was stored at room temperature, factor V was stable for 8 hours, and prothrombin time for 24 hours, whereas fibrinogen and antithrombin III remained unchanged for 7 days. Activated partial thromboplastin time showed an increase of 13 %, thrombin time a fall of 16 %, and factor VIII a decrease of 18 % after 8 hours.

Alterations of chromosome bands 19p13 and 19q13 in the form of added extra material of unknown origin are among the most frequent cytogenetic changes in ovarian carcinomas. To investigate the chromosomal composition of the 19p+ and/or 19q+ markers, we selected for examination 26 ovarian carcinomas which by G-banding had one to four 19p+ and/or 19q+, in total 37 markers. These cases were then subjected to chromosomal microdissection with subsequent reverse painting, which gave informative results on 29 markers. The breakpoints on chromosome 19 were located in both the short (p; n = 15) and the long (q; n = 10) arms, as well as in the centromeric (n = 2) and pericentromeric (n = 6) region. The analysis showed that many chromosomes added material to chromosome 19, but the chromosome arms 11q, 21q, and 22q were particularly common donors. Homogeneously staining regions (hsr) were seen in only three markers, in all of them consisting of 19p material. Eighteen markers were derived from an unbalanced translocation involving chromosome 19. In five markers, chromosome 19 was rearranged with two chromosomes. The most complex marker showed chromosome 19 rearranged with three other chromosomes, i.e., X, 13, and 16. In five markers, all of the additional material stemmed from chromosome 19 itself. This is the first large chromosome microdissection/FISH study of chromosome 19 markers in ovarian carcinomas. A detailed map of the rearrangements should provide clues to the positions of oncogenes and potential fusion genes important in ovarian carcinogenesis.

A boy with signs of Klinefelter syndrome, mild facial dysmorphic features, and severely retarded speech development displayed a female karyotype with mosaicism for two marker chromosomes 48,XX,+mar1,+mar2[68]/47,XX,+mar1[19]/47,XX,+mar2[6]/46,XX[8]. Using chromosomal microdissection, locus-specific fluorescence in situ hybridization (FISH), and PCR with several Y-chromosome markers, the larger supernumerary marker chromosome (SMC) was characterized as a ring Y-chromosome. Detection of the SRY-region explained the male phenotype. The smaller second marker chromosome contained the pericentromeric region of chromosome 8. We suggest that the co-occurrence of a partial Y-chromosome and partial trisomy 8 explain the severe speech delay and the facial dysmorphic features.

ZusammenfassungBis heute fehlen in der Hämostaseologie größere umfassende Studien über die Stabilität von Meßgrößen des Gerinnungssystems im Plasma. Daher haben wir den Einfluß von Lagerungsdauer und -temperatur auf Thromboplastinzeit, aPTT (aktivierte partielle Thromboplastinzeit), Thrombinzeit, Fibrinogen, Faktor V und VIII, Antithrombin, Protein C und Protein S im Plasma von 20 gesunden Probanden und 20 Patienten, die Heparin in therapeutischen Dosen erhielten, untersucht. Die Stabilität im Plasma war definiert als der Zeitraum, in dem im Vergleich zum Ausgangswert eine Änderung von weniger als 10% gemessen wurde. Während der Lagerung bei 6° C lag die Stabilität in der Gruppe der gesunden Probanden für die aPTT bei 8 h, für die Thromboplastinzeit bei 24 h, für Faktor V bei 48 h und 7 Tage für Thrombinzeit, Fibrinogen, Antithrombin, Protein C. Faktor VIII und Protein S zeigten eine 19- bzw. 12prozentige Verminderung der Aktivität nach 8 h.Bei den Probanden, die nicht mit Heparin behandelt wurden, war die aPTT 8 h lang, die Thromboplastinzeit 48 h und Thrombinzeit, Fibrinogen und Antithrombin 7 Tage lang während der Probenlagerung bei Raumtemperatur stabil. Faktor VIII zeigte eine Abnahme von 18% nach 8 h. Für Patienten, die eine Heparintherapie erhielten, lag die Stabilität unter 6° C bei 8 h für die Thrombinzeit, 24 h für die Thromboplastinzeit und aPTT sowie 7 Tage für Fibrinogen und Antithrombin. Faktor V und VIII zeigten eine Abnahme von 13 bzw. 20% nach 8 h. Sobald das Plasma von diesen Patienten bei Raumtemperatur gelagert wurde, war Faktor V über 8 h stabil, die Thromboplastinzeit über 24 h und sowohl Fibrinogen als auch Antithrombin blieben über 7 Tage unverändert. Die aPTT zeigte einen Anstieg von 13%, die Thrombinzeit einen Abfall um 16% und Faktor VIII einen Abfall um 18% nach 8 h.