Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.

Background: We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X-inactivation was observed in both the proband and her clinically normal mother.

Methods: Bidirectional Sanger sequencing of all F8 gene coding regions and exon/intron boundaries was undertaken. Methylation-sensitive restriction enzymes were utilized to investigate skewed X-inactivation using both a classical human androgen receptor (HUMARA) assay, and a novel method targeting differential methylation patterns in multiple informative X-chromosome SNPs.

Immune tolerance induction using a factor VIII/von Willebrand factor concentrate (BIOSTATE), with or without immunosuppression, in Australian paediatric severe haemophilia A patients with high titre inhibitors: a multicentre, retrospective study.

Introduction: It has been postulated that factor VIII (FVIII) products containing von Willebrand factor (VWF) may improve immune tolerance induction (ITI) success rate in patients with haemophilia A and poor prognostic factors.

Materials And Methods: We conducted a retrospective cohort analysis of a FVIII/VWF concentrate (BIOSTATE) for ITI in paediatric patients with severe haemophilia A (SHA) and inhibitors, from January 2003 to December 2011 at 3 paediatric-only Haemophilia Treatment Centres in Australia. Response to ITI was assessed at or before 33 months and at completion of ITI.

Point-of-care derived INR does not reliably detect significant coagulopathy following Australian snakebite.

Introduction: Point-of-care international normalised ratio (INR) has been suggested as a way to screen for venom-induced consumption coagulopathy following snakebite, but has not been validated for this. This study aimed to assess the diagnostic reliability of point-of-care INR for venom-induced consumption coagulopathy.

Methods: This was a prospective study of snakebite patients recruited between January 2011 and May 2012 where a point-of-care INR was done and compared to an INR done on a laboratory coagulation analyser, as part of a quality assurance exercise.

Prevention of intraventricular haemorrhage: a role for recombinant activated factor VII?

As the survival from extreme prematurity continues to improve, focus on the quality of this survival becomes increasingly important. Prevention of intraventricular haemorrhage (IVH) and its potential long-term sequelae remains one of the major challenges in the early management of these infants. Recombinant activated factor VII (rVIIa), a novel haemostatic agent with an ever-expanding list of potential applications, warrants consideration for use in this setting.