Training future haematologists, a privilege or a burden? "A trainer's view".

Recent decades have seen the emergence of new problems in haematology training, relating particularly to an expanding curriculum, less time available for training, staff shortages and the increasing separation of clinical haematology from its laboratory base. We have sought to identify the problems and propose possible solutions.

A novel mutation in exon 2 of FGB caused by c.221G>T substitution, predicting the replacement of the native Arginine at position 74 with a Leucine (p.Arg74Leu ) in a proband from a Kurdish family with dysfibrinogenaemia and familial venous and arterial thrombosis.

Dysfibrinogenaemias may present in either congenital or acquired form and are disorders of fibrinogen structure which may or may not be associated with abnormal function. More than 100 point mutations with single amino acid substitutions have been identified in over 400 families. These lead to defective DNA in the translated fibrinogen molecule.

The impact of the DoH Commissioning for Quality and Innovation incentive on the success of venous thromboembolism risk assessment in hospitalised patients. A single institution experience in a quality outcome improvement over a 4-year cycle.

Objectives: To i) demonstrate compliance with the Commissioning for Quality and Innovation for venous thromboembolism risk assessment ii) to undertake root cause analysis of Hospital Acquired Thrombosis and to investigate its impact on quality of care.

Design: Prospective monitoring of all admissions.

Setting: Imperial College Healthcare Hospitals, London.

Antiphospholipid syndrome presenting as cerebral venous sinus thrombosis: a case series and a review.

The cerebral venous sinus system is a rare site for venous thrombosis except in patients with antiphospholipid syndrome. We describe three patients presenting with cerebral venous thrombosis in association with other thrombotic sites in two patients and as an only site in one patient. Antiphospholipid syndrome has varied clinical manifestations but the defining feature is the persistent presence of antiphospholipid antibodies.

A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.

Background: Bernard-Soulier syndrome (BSS) is a congenital bleeding disorder characterised by thrombocytopenia, giant platelets and decreased platelet adhesion resulting from genetic alterations of the glycoprotein (GP) Ib/IX/V complex.

Objectives: Three sisters with a lifelong bleeding history and a provisional diagnosis of BSS were referred for further characterisation of their bleeding diathesis. The siblings' symptoms varied in severity from skin and gum bleeding to menorrhagia associated with iron-deficiency anaemia requiring regular transfusion of red cells and platelets.

Successful aortic aneurysm repair in a woman with severe von Willebrand (type 3) disease.

von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.

Intra-Arterial Immunoselected CD34+ Stem Cells for Acute Ischemic Stroke.

Treatment with CD34+ hematopoietic stem/progenitor cells has been shown to improve functional recovery in nonhuman models of ischemic stroke via promotion of angiogenesis and neurogenesis. We aimed to determine the safety and feasibility of treatment with CD34+ cells delivered intra-arterially in patients with acute ischemic stroke. This was the first study in human subjects.

Adverse effects of lupus anticoagulant positive blood sera on placental viability can be prevented by heparin in vitro.

Objective: Lupus anticoagulant poses a significant risk factor for obstetric complications, whereas heparin improves live birth rates in those pregnancies. Pathophysiology of antiphospholipid antibodies on placental function involves coagulopathies and thrombosis but also dysregulated trophoblast turnover.

Study Design: With the use of placental explant cultures, we assessed the effect of lupus anticoagulant positive sera (LA + sera) on apoptosis, mitosis, and invasion of trophoblast and determined the role of unfractionated heparin in regulating these functions.