we report the first case of neonatal intrahepatic cholestasis caused by citrin deficiency with severe hepatic dysfunction requiring a living-related liver transplantation. Patients with this disorder should be followed up carefully, even during infancy.

We report a case of haemophilia A with a high responding inhibitor of factor VIII (FVIII) who had a serious retroperitoneal haematoma caused by penetration of a duodenal ulcer. Inhibitor-bypassing therapy was commenced immediately on admission. On the 17th day of treatment with activated prothrombin complex concentrate (APCC; FEIBA, re-bleeding occurred and thrombelastography (TEG) demonstrated resistance to therapy. Treatment was changed to recombinant activated factor VII (rFVIIa; NovoSeven and resulted in clinical improvement together with an improvement in TEG parameters. On the 10th day of continuous infusion with NovoSeven, however, TEG again showed resistance to therapy. FEIBA infusions were re-introduced and TEG results remained satisfactory for 7 days. On day 34, however, further retroperitoneal bleeding was evident and a decline in the haemostatic efficiency of FEIBA was recorded by TEG. NovoSeven was again successfully administered for 7 days. There were no laboratory findings to indicate disseminated intravascular coagulation (DIC), hypercoagulability or abnormal fibrinolysis. The plasma-based clotting tests did not show any additional prolongation on the occasions when the TEG demonstrated unresponsiveness to FEIBA or NovoSeven. These findings suggested that some component of whole blood, other than plasma might have governed the TEG data. The long-term use of APCC such as FEIBA or rFVIIa, requires careful monitoring in terms of FVIII inhibitor bypassing activity as well as the tendency to DIC.

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This report is intended to raise awareness that the use of noninvasive screening techniques such as three-dimensional CT angiography or magnetic resonance angiography to detect intracranial aneurysms should also be performed in paediatric patients with autosomal dominant polycystic kidney disease.

The preoperative CFT and ETP provide useful indices for predicting postoperative chest tube drainage volume. In addition, the duration of surgery also correlated with chest tube drainage and affected ROTEM parameters.

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SummaryThe lower detection limit of the conventional one-stage aPTT based clotting assay for determining FVIII:C levels is generally 1.0-2.0 IU/dl. Consequently, it has been impossible to study the clinical significance of levels of FVIII:C less than 1.0 IU/dl. Using a photo-optical automated coagulation analyzer, the Organon Teknika MDA II®, we have performed qualitative and quantitative aPTT waveform analysis and measured FVIII:C levels by automated one-stage aPTT clotting assay in 36 severely affected Hemophilia A patients. Qualitative waveform analysis showed clear evidence of individual differences in the waveform profile suggesting differing coagulant activity from patient to patient. The FVIII:C level was less than 0.2 IU/dl in 23 cases and levels of FVIII:C between 0.2 and 1.0 IU/dl could be discriminated in 13 patients. The FVIII:C level in these patients was closely correlated with the minimum value of the second derivative of the aPTT waveform (Min2). This is a measure of the acceleration of change in optical transmission at the initiation of coagulation. Furthermore, the correlation of the aPTT (time and Min2) and the FVIII:C level, determined by a one-stage clotting assay on the same system, was high in plasmas with a range of levels of FVIII:C artificially prepared by the addition of various concentrations of rFVIII:C to FVIII deficient plasma. These data suggest that it is possible to segregate different levels of clotting activity in patients previously assigned to a single grouping, i.e. less than 1.0 IU/dl, by conventional one-stage assay. Thus clot waveform analysis may be useful for the investigation of the clinical phenotype of individual patients and their response to therapy.