37th Hemophilia Symposium Hamburg 2006 (eBook)

Contents 6
List of Participants 11
Johann Lukas Schoenlein Prize 2006 33
I. Epidemiology 35
HIV Infection and Causes of Death in Patients with Hemophilia in Germany ( Year 2005/ 2006 Survey) 36
Hemophilia Registry of the Medical Committee of the Swiss Hemophilia Association – Update and Annual Survey 2006 48
II. Treatment of Inhibitors in Hemophiliacs 53
Detection of Factor VIII- Specific Memory B Cells in Patients with Hemophilia A and Factor VIII Inhibitors 54
Novel Strategies for FVIII: Half- life Prolongation 66
III. Hemophilic Arthropathy and Synovitis 67
Predictive Parameters of Fitness in Hemophiliac Children 68
Hemophilia and Exercise Project ( HEP) Conception and Contents of a "Programmed Sports Therapy" for Hemophilic Patients 72
Results of German Hemophiliacs Self-Assessment of Health and Social Status: With Emphasis on Orthopedic Function 87
IV. Relevant Hemophilia Treatment 2006 91
Developing a German Hemophilia Register 92
V. Pediatric Hemostasiology 93
Thrombin Generation in Children with Hemophilia and VWD – Comparing a Fluorimetric Method and ROTEM 94
Thrombin Generation in Severely Obese Children 98
Protein C Promoter Genotypes Associate with Susceptibility, Development of Sepsis, and Lower Blood Pressure in Young Children with Systemic Meningococcemia 104
Life of Teenage Hemophiliacs 111
VI. Free Lectures 115
Monocytes Enhance rVIIa Induced Thrombin Generation in Absence of Platelets and Microparticles 116
Mutation Detection Rate in Female Patients with Reduced Factor VIII Activity and Negative Family History for Hemophilia A 127
Investigation of Underlying Reasons of Factor VIII Deficiency in Hemophilia A Patients with Undetectable Mutations in the F8 Gene 130
Monitoring of Antiplatelet Therapy Using Whole Blood Aggregometry: Experiences and Approaches to Dose Adaptation 135
VII. Poster VIIa: Hemophilia 137
No Complications in Switching from Recombinate to Advate – a Prospective Surveillance in 22 Children 138
Epidemiology and Treatment of Hemophilia A, B and von Willebrand Disease of Type 3 in the Eastern Part of German 141
Database Management System for a Hemophilia Comprehensive Care Center 144
Hepatocellular Carcinoma in Patients with Hemophilia and Chronic Hepatitis C Infection 146
Elucidation of Gross Genomic Rearrangements Involving Large Deletions in the Clotting Factor VIII Gene 149
The Centro American Hemophilia Registry, of the CARS Hemophilia Group – Update September 2006 157
Two Examples of the Influence of Psychological Stress on the von Willebrand Factor Activity 161
Efficacy of Chronic Hepatitis C Treatment in Hemophilic Patients During the Last 10 Years: a Single Center Experience 164
Dynamic of Thrombin Generation in Patients with Severe Hemophilia A 168
Hemophilia and Exercise Project ( HEP): Effects of a Two- Year Sports Therapy on Physical Activity Behavior and Bleeding Frequency by Persons with Hemophilia 171
Hemophilia Summer Camp in Germany, 1996– 2005 172
Impact of Hemophilia on the Psychological Health of Hemophilia Patients in Romania 173
Starter- Kit for Patients Suffering from Hemophilia – A Project Initiated by the German Hemophilia Assistant Committee 179
Documentation in Hemophilia Treatment 182
Short-time Prophylaxis with FEIBA in Three Patients with Hemophilia A and High Titer Inhibitors 184
VIIb. Casuistics 187
Successful Treatment of a Patient with High Titer Acquired Factor VIII Inhibitor ( 114 BU) with Rituximab 188
Preoperative Arterial Embolization of a Hemophilic Pseudo Tumor before Osteosynthesis in a Patient with Hemophilia A and Pathological Femoral Fracture 191
Successful Liver Transplantation in Two Patients with Severe Hemophilia A 195
Out from the Cold: Severe Erythema and Clumped Red Cells 198
Acquired Glanzmann Thrombasthenia in a Patient with Myelodysplastic Syndrome 201
Case Report of an Acquired Inhibitor Against Factor XIII 204
Elbow Endoprosthesis in Hemophilic Arthropathy 207
Pseudohomozygous APC Resistance Report on Two Patients and a Novel Mutation in the Factor V Gene 210
Pseudo- Homozygous APC Resistance Due to Coinheritance of Heterozygous Factor V – R506Q and Type I Deficiency Associated with Thrombosis 215
Three Cases of In-stent Thrombosis in Patients with Clopidogrel Non- response 218
VIIc. Diagnostics 219
Thrombin Generation in Pregnancy 220
Thrombin Generation – Comparison of ROTEM and Technothrombin TGA 227
Multiple Electrode Aggregometry in Patients on Chronic Aspirin and/ or Clopidogrel Treatment 232
Endogenous Thrombin Potential inWomen with Recurrent Miscarriage and/ or Repeated In- Vitro- Fertilization Failure 233
One Year TTP Diagnosis in the Central Laboratory of the University of Mainz 236
VIId. Miscellaneous 241
Venous Thromboembolism – A Metabolic Disease? 242
Structural Investigation of Two Novel Mutations in Coagulation Factor V by Molecular Modeling 244
High Levels of Human Factor IX Transgene Expression in Mice Increase Blood Procoagulant Activity 247
Factor VII Deficiency: Clinical Manifestation and Molecular Genetics of 718 Subjects with FVII Gene Mutations 251
Therapeutical Options for Congenital FVII Deficiency – The HK 7 Project of the International Greifswald Registry of the Congenital FVII Deficiency ( GR- HK- 7) 260
Characterization of a Mutation in Exon 1 of the FVIIGene – a Case of RNA Editing? 265
Analysis of the Biological Importance of the Gene via Knock- Out Mice 269
In Vivo-Assay for Warfarin-Resistance by Coexpression of VKORC1 and Vitamin K-Dependent Coagulation Factors 272
Functional Promoter Polymorphism in the VKORC1Gene is no Major Genetic Determinant for Vitamin KDependent Coagulation Factor Activity 274
Influence of VKORC1 Haplotypes on Cardiovascular Disease 277
Creation and Characterization of a Knock-Out Mouse for the VKORC1L1-Gene 279
Novel Variants in VKORC1 – the Target Protein of Cumarin-Type Anticoagulants – in Rodents from Warfarin-Resistance Areas in Europe, Asia and America 282
Recombinant Expression and 3D- Modelling of C1- Inhibitor Mutants 284
Five Novel Mutations in F13B Gene Resulting in Mild FXIII Deficiency 286
Idiopathic Thrombocytopenic Purpura in Children: Predictive Factors for the Outcome 288
Preoperative DDAVP-Testing in Patientswith von Willebrand Disease 293
Subject Index 296