Open synovectomy of the ankle joint in young haemophiliacs: mid-term to long- term results of a single-centre series of 32 procedures.

Introduction: In haemophiliacs, recurrent hemarthrosis and chronic synovitis lead to chronic arthropathy. Synovectomy is indicated when medical treatment fails. Few studies report the results of open synovectomy of the ankle in haemophiliacs with a small number of procedures and also a limited follow-up.

Long-term follow-up of children with haemophilia - low incidence of infections with central venous access devices.

This study reports on 15 years of experience, in a single haemophilia care centre in France, with central venous access devices (VADs) in children with haemophilia. Following the insertion of a central VAD, patients were requested to return to the hospital on a quarterly basis for a multidisciplinary appointment which included clinical examination, chest X-ray, cardiac and major vessels ultrasound and preventive fibrinolysis. The family was urged to return to the Haemophilia Care Centre if complications or problems occurred.

Batch recall of French plasma-derived products due to variant Creutzfeldt-Jakob disease risk: the psychological impact on haemophilic patients, changes in their therapeutic demands and behaviour and ethical considerations.

The choice of plasma-derived products (PdP) vs. recombinant products (RP) for treating haemophilia is influenced by the infectious and perceived safety of the products. Batch recall of PdP due to the risk of variant Creutzfeldt-Jakob disease (vCJD) may have unfavourable psychological impacts on haemophilia patients and influence their product preferences.

Spontaneous obturator internus muscle haematoma: a new unpublished cause of ilioipelvic pain in haemophilia.

Obturator muscles haematoma are rarely reported. The most often reported cases are primary pyomyositis or posttraumatic haematomas occurring during pelvic fractures. We firstly report herein two cases of spontaneous obturator internus haematoma (OIH) in two haemophiliacs with inhibitor.

Screening for von Willebrand disease: contribution of an automated assay for von Willebrand factor activity.

Measuring von Willebrand factor (VWF) activity is essential to the diagnosis of von Willebrand disease (VWD). The VWF activity is usually assessed based on measurement of the ristocetin cofactor (VWF:RCo). However, that test is technically challenging and has high intra- and inter-assay variabilities.

Deaths associated with acquired haemophilia in France from 2000 to 2009: multiple cause analysis for best care strategies.

Deaths occurring in the context of acquired haemophilia (AH) may be related to inter-connected causes and mechanisms including bleeding, specific or older patient co-morbidities or iatrogenic complications. However, their magnitude remains unknown. This study aimed to determine the respective weight and frequency of the various causes of death in AH.

Surgical synovectomy of the knee in young haemophiliacs: long-term results of a monocentric series of 23 patients.

Background: In haemophiliacs, synovectomy is indicated for recurrent joint bleedings, despite medical treatment.

Method: We report a series of 23 surgical synovectomies of the knee with a median follow-up of 8.8 years.

AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function.

Glanzmann thrombasthenia (GT) is an autosomal recessive inherited bleeding disorder characterized by an impaired platelet aggregation due to defects in integrin alphaIIbbeta3 (ITGA2B, ITGB3), a fibrinogen receptor. Mutations from 24 GT patients and two carriers of various origins, Caucasian, North-African and Asian were characterized. Promoter and exon sequences of alphaIIb and beta3 genes were amplified and directly sequenced.

Uncomplicated neurosurgical resection of a malignant glioneuronal tumour under haemostatic cover of rFVIIa in a severe haemophilia patient with a high-titre inhibitor: a case report and literature review of rFVIIa use in major surgeries.

The development of inhibitors following factor VIII replacement therapy is a serious complication in severe inherited haemophilia. Whereas significant experience, notably in orthopaedic surgery, is now obtained with the use of bypassing agents in haemophilia with high-titre inhibitor, new surgical challenges might occur due to patients' increasing life expectancy. A 56-year-old severe haemophilia A patient with a high-titre inhibitor was diagnosed for probable right temporoparietal malignant glioneuronal tumour on cerebral magnetic resonance imaging (MRI) (4 cm x 3 cm cerebromeningeal tumour with perilesional oedema and transfalcial herniation) requiring total resection.

Single-dose (270 microg kg(-1)) recombinant activated factor VII for the treatment and prevention of bleeds in haemophilia A patients with inhibitors: experience from seven European haemophilia centres.

Several studies have suggested that recombinant factor VIIa (rFVIIa) is effective and safe at doses >90 microg kg(-1). In March 2007, the European Medicines Agency approved the use of single-dose rFVIIa 270 microg kg(-1) for the treatment of mild-to-moderate bleeds in haemophilia patients with inhibitors. The aim of this study was to describe the use of single-dose rFVIIa in a real-life setting.

Epidemiological survey of haemophiliacs with inhibitors in France: orthopaedic status, quality of life and cost--the 'Statut Orthopédique des Patients Hémophiles' avec Inhibiteur study.

The physical condition of severe haemophilia and the impact of advances in replacement therapy have been much studied, but little work has been done on patients who developed inhibitors. The 'Statut Orthopédique des Patients Hémophiles avec Inhibiteur' study was conducted in France in order to assess the orthopaedic status and quality of life of such patients, and the cost of their medical management. Fifty haemophiliacs aged 12-63 years with a history of high-responder inhibitors were included.

Recurrence of a Phe31Ser mutation in the Gla domain of blood coagulation factor X, in unrelated Algerian families: a founder effect?

The presence of gene lesions in blood coagulation factor X (FX) was investigated in eight FX-deficient patients with severe bleeding symptoms, originating from five unrelated Algerian families (FX coagulant activity <1%, FX antigen ranging from 2% to 16%). A missense mutation (p.Phe31Ser) in the Gla domain was found in homozygous form for all patients but one, who is a compound heterozygote for the Phe31Ser mutation and for a non-sense mutation, Tyr130Term in EGF-2 domain.

Intracranial haemorrhages in French haemophilia patients (1991-2001): clinical presentation, management and prognosis factors for death.

Intracranial haemorrhage (ICH) is known to be a severe although uncommon complication of haemophilia. A national survey has been conducted in France in order to collect information about ICHs which occurred in haemophiliacs between 1991 and 2001 and to propose recommendations for the diagnostic and treatment of ICH. Within this period, 123 episodes of ICH were recorded from 106 patients.

Analysis of biological phenotypes from 42 patients with inherited factor VII deficiency: can biological tests predict the bleeding risk?

Background And Objectives: Inherited factor VII (FVII) deficiency is a rare bleeding disorder characterized by a poor relationship between reported FVII clotting activity (FVII:C) and bleeding tendency. Our study was aimed at defining biological parameters that are possibly predictive for bleeding risk in this condition.

Design And Methods: Forty-two FVII-deficient patients (FVII:C <30%) were classified into two opposite clinical groups defined as severe and non-or-mild bleeders.

European data of a clinical trial with a sucrose formulated recombinant factor VIII in previously treated haemophilia A patients.

To increase the safety of antihaemophilic treatment, the production process of full-length recombinant factor VIII (FVIII) KOGENATE Bayer (Kogenate FS) has been modified. Human albumin is no longer added as stabilizer during purification and in final formulation. Instead, the new KOGENATE Bayer production process uses sucrose as a stabilizer in the formulation and adds solvent/detergent virus inactivation step.

Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia.

Recombinant factor VIIa (rFVIIa; NovoSeven, Novo Nordisk, Bagsvaerd, Denmark) appears effective and relatively safe for the treatment of bleeding and for surgical prophylaxis in patients with Glanzmann thrombasthenia as reported to the International Registry on rFVIIa and Congenital Platelet Disorders. One of the shortcomings of the Registry data is the heterogeneity of treatment protocol, including dosage, number of doses used, duration of treatment before declaration of failure, and mode of rFVIIa administration (bolus v continuous infusion). The data are not yet sufficient to define optimal regimens for various indications such as the type of bleeding or the type of procedures.

[Epidural hematoma in a child with hemophilia: diagnostic difficulties].

Unlabelled: Spinal epidural hematoma is an uncommon complication in hemophilia.

Case Reports: The cases of an extensive epidural hematoma in two boys with severe hemophilia are reported.

Conclusion: Acute onset of severe neck pain or backache leads to the diagnosis of epidural hematoma in children with hemophilia, even in the absence of neurologic symptoms.

[Papular filariasis].

Unlabelled: 'River blindness' is the main problem of onchocerciasis. Despite a high prevalence of onchocerciasis in endemic countries, cases of imported cutaneous or ocular onchocerciasis in France are rare.

Case Report: We report the case of a chronic papular onchodermatitis with voluminous lymphadenopathy in a Cameroonian child, resolving with a treatment of ivermectin.

Long-term survival of HIV-infected patients with haemophilia.

In France, patients with haemophilia were infected by HIV up until October 1985, with a maximum of seroconversion between 1983 and 1985. There was a progressive development of AIDS in the 1158 infected patients as reported by Health Authorities. By the end of 1992, 32% of the haemophilia population had developed AIDS and 38 had developed clinical or biological symptoms of immunodeficiency.

Evaluation of desmopressin for dental extractions in patients with hemostatic disorders.

We evaluated the effectiveness of desmopressin to control bleeding of patients with coagulation defects during dental surgery. Thirty-five patients, mainly with moderate and mild hemophilia and Willebrand disease, were undergoing dental extractions (over 80 extractions in total). Bleeding was successfully prevented in 28 patients with the use of a combined treatment incorporating IV desmopressin, an antifibrinolytic agent (tranexamic acid), and local methods (surgical glue and compression techniques).

Comparison of anti-human and anti-porcine factor VIII inhibitor levels in 63 patients with severe haemophilia A. A French Multicentric Study.

The levels of anti-human and anti-porcine factor VIII inhibitors, measured in 63 severe haemophilia A patients, lay in the ranges of < 0.2-2,600 and < 0.2-1,300 Bethesda units per ml (BU/ml), respectively, with a median cross-reactivity of 33%.