2,295 results match your criteria Hemophilia Type A


Antifibrinolytic therapy for preventing oral bleeding in patients with haemophilia or Von Willebrand disease undergoing minor oral surgery or dental extractions.

Cochrane Database Syst Rev 2019 Apr 19;4:CD011385. Epub 2019 Apr 19.

Van Creveldkliniek / Department of Haematology, University Medical Centre Utrecht, Heidelberglaan 100, Utrecht, Netherlands, 3584CT.

Background: Minor oral surgery or dental extractions (oral or dental procedures) are widely performed and can be complicated by hazardous oral bleeding, especially in people with an inherited bleeding disorder such as haemophilia or Von Willebrand disease (VWD). The amount and severity of singular bleedings depend on disease-related factors, such as the severity of the haemophilia, both local and systemic patient factors (such as periodontal inflammation, vasculopathy or platelet dysfunction) and intervention-related factors (such as the type and number of teeth extracted or the dimension of the wound surface). Similar to local haemostatic measures and suturing, antifibrinolytic therapy is a cheap, safe and potentially effective treatment to prevent bleeding complications in individuals with bleeding disorders undergoing oral or dental procedures. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/14651858.CD011385.pub3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6474399PMC

Restoration of FVIII expression by targeted gene insertion in the FVIII locus in hemophilia A patient-derived iPSCs.

Exp Mol Med 2019 Apr 17;51(4):45. Epub 2019 Apr 17.

Department of Physiology, Yonsei University College of Medicine, 50-1 Yonsei-ro Seodaemun-gu, Seoul, 03722, Korea.

Target-specific genome editing, using engineered nucleases zinc finger nuclease (ZFN), transcription activator-like effector nuclease (TALEN), and type II clustered regularly interspaced short palindromic repeats (CRISPR)/CRISPR-associated protein 9 (Cas9), is considered a promising approach to correct disease-causing mutations in various human diseases. In particular, hemophilia A can be considered an ideal target for gene modification via engineered nucleases because it is a monogenic disease caused by a mutation in coagulation factor VIII (FVIII), and a mild restoration of FVIII levels in plasma can prevent disease symptoms in patients with severe hemophilia A. In this study, we describe a universal genome correction strategy to restore FVIII expression in induced pluripotent stem cells (iPSCs) derived from a patient with hemophilia A by the human elongation factor 1 alpha (EF1α)-mediated normal FVIII gene expression in the FVIII locus of the patient. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s12276-019-0243-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6470126PMC
April 2019
1 Read
3.446 Impact Factor

Consensus statements on vaccination in patients with haemophilia-Results from the Italian haemophilia and vaccinations (HEVA) project.

Haemophilia 2019 Apr 16. Epub 2019 Apr 16.

Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.

Vaccination against communicable diseases is crucial for disease prevention, but this practice poses challenges to healthcare professionals in patients with haemophilia. Poor knowledge of the vaccination requirements for these patients and safety concerns often result in vaccination delay or avoidance. In order to address this issue, a panel of 11 Italian haemophilia and immunization experts conducted a Delphi consensus process to identify the main concerns regarding the safe use of vaccines in patients with haemophilia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13756DOI Listing
April 2019
1 Read

Ocular bleeding in an undiagnosed hemophiliac neonate causing irreversible loss of vision: A case report with review of the literature.

Eur J Ophthalmol 2019 Apr 2:1120672119841188. Epub 2019 Apr 2.

1 Department of Ophthalmology, King Abdul-Aziz University Hospital, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Introduction:: Suprachoroidal hemorrhage is an unexpected complication after penetrating keratoplasty during childhood. We report the case of delayed suprachoroidal hemorrhage after penetrating keratoplasty in a neonate as the first manifestation of hemophilia.

Case Report:: A 4-day-old neonate was referred to our hospital because of bilateral corneal opacities present since birth. Read More

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/1120672119841188
Publisher Site
http://dx.doi.org/10.1177/1120672119841188DOI Listing
April 2019
3 Reads

Acquired Hemophilia A Associated with Dipeptidyl Peptidase-4 Inhibitors for the Treatment of Type 2 Diabetes Mellitus: A Single-Center Case Series in Japan.

Diabetes Ther 2019 Mar 29. Epub 2019 Mar 29.

Department of Hematology and Clinical Research Institute, National Hospital Organization Kyushu Medical Center, 1-8-1 Jigyohama, Chuo-Ku, Fukuoka, 810-8563, Japan.

Herein we describe four patients with acquired hemophilia A (AHA) caused by factor VIII (FVIII) inhibitor and histories of dipeptidyl peptidase-4 inhibitor (DPP4-I) treatment for diabetes mellitus (DM). Drug exposure can cause a breakdown of immune tolerance to FVIII associated with CD4 T cells, resulting in the induction of autoantibodies against FVIII. In patient 1 in the present series, FVIII inhibitor disappeared after DPP4-I treatment. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13300-019-0609-3DOI Listing
March 2019
1 Read

Spontaneous recurrent intracranial haemorrhage in a woman with type 2B von Willebrand disease: A clinical case and a brief literature review.

Haemophilia 2019 Mar 29. Epub 2019 Mar 29.

Department of Medicine, Haemophilia Centre, University Hospital of Padua, Padua, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13742DOI Listing
March 2019
1 Read

[PEDIATRIC VENOUS THROMBOEMBOLISM - A COHORT STUDY IN A TERTIARY CENTER].

Harefuah 2019 Mar;158(3):187-191

The National Hemophilia Center and Thrombosis Unit, and Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Israel.

Introduction: Deep Venous Thrombosis (DVT) is rare among children, yet may yield high morbidity and mortality. Due to the limited data regarding pediatric DVT, its management has been adopted from adults' protocols. Recent research reported associations of DVT and strokes with genetic thrombophilia, especially in the presence of transient risk factors (e. Read More

View Article

Download full-text PDF

Source
March 2019
1 Read

Flow Devices to Assess Platelet Function: Historical Evolution and Current Choices.

Semin Thromb Hemost 2019 Apr 25;45(3):297-301. Epub 2019 Mar 25.

Massachusetts General Hospital Comprehensive Hemophilia Treatment Center, Cardiovascular Thrombosis Laboratory, Pediatric Stroke Services, Massachusetts General Hospital, Boston, Massachusetts.

Platelet function testing, which began more than a hundred years ago, is a time-consuming and uncertain process. Simulating hemostasis and the blood vessel microenvironment in vitro is challenging, which poses a difficulty for diagnosing platelet dysfunction and mild von Willebrand disease (VWD). In an effort to simulate the rheological microenvironment within blood vessels, several blood flow devices have been introduced since the 1980s. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1683840DOI Listing
April 2019
1 Read

Infected tooth extraction, bone grafting, immediate implant placement and immediate temporary crown insertion in a patient with severe type-B hemophilia.

BMJ Case Rep 2019 Mar 22;12(3). Epub 2019 Mar 22.

Department of Prosthodontics and Digital Technology, Stony Brook University, Stony Brook, New York, USA.

Haemorrhagic disorders combined with soft tissue inflammation and infection may lead to severe bleeding complications before, during or after dental treatment. In selected cases, a combined therapeutic approach involving clinical therapies and systemic and local medication could improve the treatment outcomes and the patient's quality of life. This clinical case report, presents for the first time a successful combined approach, completed in a 38-year-old male patient with severe type-B haemophilia in which an infected tooth was extracted, an immediate implant was inserted, bone grafting was performed and early implant loading was successfully applied. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2019-229204DOI Listing

Successful treatment of refractory pancreatic hemorrhage and pseudoaneurysm related to chronic pancreatitis in a patient with severe-type hemophilia A: A case report.

Kaohsiung J Med Sci 2019 Mar 19. Epub 2019 Mar 19.

Department of Pediatrics, School of Medicine, College of Medicine, Taipei Medical University, Taipei, Taiwan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/kjm2.12043DOI Listing
March 2019
1 Read

[Psychopathological features of victimity in hemophiliacs].

Zh Nevrol Psikhiatr Im S S Korsakova 2019;119(2):5-10

National Research Center for Hematology, Moscow, Russia.

Aim: To study psychopathological features of victimity in hemophiliacs.

Material And Methods: Thirty-one men with hemophilia, aged 17-63 years, mean age 33.43±9. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.17116/jnevro20191190215DOI Listing
January 2019
3 Reads

Scope of practice of haemophilia physiotherapists: A European survey.

Haemophilia 2019 Mar 13. Epub 2019 Mar 13.

Secteur des Sciences de la Santé, Institut de Recherche Expérimentale et Clinique, Neuromusculoskeletal Lab (NMSK), Université catholique de Louvain, Brussels, Belgium.

Introduction: European guidelines on the care of haemophilia recommend ready access to a range of services provided by a multidisciplinary team of specialists including physiotherapy. However, the scope of physiotherapy provided is unknown.

Methods: The Physiotherapists Committee of the European Association for Haemophilia and Allied Disorders (EAHAD) conducted a web-based survey to quantify the role and scope of practice of physiotherapists involved in haemophilia care. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13727DOI Listing

Whole blood ristocetin-induced platelet impedance aggregometry does not reflect clinical severity in patients with type 1 von Willebrand disease.

Haemophilia 2019 Mar 13. Epub 2019 Mar 13.

Department of Pediatrics, Nara Medical University, Kashihara, Nara, Japan.

Background: The haemorrhagic phenotype in patients with von Willebrand disease (VWD) is heterogeneous, and assays of von Willebrand factor ristocetin cofactor activity (VWF:RCo) do not always reflect clinical severity, especially in those individuals classed as type 1 VWD. Recent studies have shown that whole blood ristocetin-induced platelet agglutination (WB-RIPA) using an easy-to-use analyzer, Multiplate® platelet impedance technique, could be informative as a diagnostic test in VWD, although inconsistencies were evident in patients with the type 1 disorder, possibly associated with clinical symptoms.

Aim: To investigate the relationship between WB-RIPA, bleeding scores (BS) and VWF-related measurements in type 1 VWD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13725DOI Listing
March 2019
3 Reads

Professional functioning of young adults with congenital coagulation disorders in the Netherlands.

Haemophilia 2019 Mar 12. Epub 2019 Mar 12.

Department of Pediatric-Hematology and Hemophilia Comprehensive Care Treatment Center, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Introduction And Aim: Suboptimal health-related quality of life and lowered employment rates found in a previous study in young adults (YA) with congenital coagulation disorders (CCD) in the Netherlands underline the need for more insight into professional functioning of YA with CCD and into determinants of professional functioning.

Methods: Young adults (18-30 years) with CCD participated in a cross-sectional study. Professional functioning was assessed with the Work Productivity and Activity Impairment questionnaire (WPAI). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13698DOI Listing

Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Haematologica 2019 Mar 7. Epub 2019 Mar 7.

Institute of Genetics, University of Bern, Bern, Switzerland.

Hemophilia B is a classical monogenic X-chromosomal recessively transmitted bleeding disorder caused by genetic variants within the coagulation factor IX gene. Although hemophilia B has been described in dogs, it has not yet been reported in the Hovawart. Here we describe the identification of a Hovawart family transmitting typical signs of an X-linked bleeding disorder. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3324/haematol.2018.215426DOI Listing
March 2019
1 Read

Genetic variants of VWF gene in type 2 von Willebrand disease.

Haemophilia 2019 Mar 28;25(2):e78-e85. Epub 2019 Feb 28.

Fundação HEMOMINAS, Minas Gerais, Brazil.

Introduction: von Willebrand disease (VWD) is the most common inherited bleeding disorder. Few studies have explored the molecular basis of type 2 VWD.

Aim: This study aimed to identify variants associated with type 2 VWD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13714DOI Listing
March 2019
3 Reads

The New Paradigms in Clinical Research: From Early Access Programs to the Novel Therapeutic Approaches for Unmet Medical Needs.

Front Pharmacol 2019 13;10:111. Epub 2019 Feb 13.

Campania Regional Centre for Pharmacovigilance and Pharmacoepidemiology, Department of Experimental Medicine, Section of Pharmacology "L. Donatelli", University of Campania "Luigi Vanvitelli", Naples, Italy.

Despite several innovative medicines gaining worldwide approval in recent years, there are still therapeutic areas for which unsatisfied therapeutic needs persist. For example, high unmet clinical need was observed in patients diagnosed with type 2 diabetes mellitus and hemophilia, as well as in specific age groups, such as the pediatric population. Given the urgent need to improve the therapy of clinical conditions for which unmet clinical need is established, clinical testing, and approval of new medicines are increasingly being carried out through accelerated authorization procedures. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fphar.2019.00111
Publisher Site
http://dx.doi.org/10.3389/fphar.2019.00111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6381027PMC
February 2019
8 Reads

Identification of six novel factor viii gene variants using next generation sequencing and molecular dynamics simulation.

Acta Biochim Pol 2019 Feb;66(1):23-31

1Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, P.O. Box 715, Makkah 21955, Saudi Arabia; 2Science and Technology Unit, Umm Al Qura University, P.O. Box 715, Makkah 21955, Saudi Arabia.

Hemophilia A is an X-linked recessive hemorrhagic disorder caused by variants in the F8 gene. To identify known and novel causative variants in hemophilia A, we have carried out genetic analysis among Saudi patients. Twenty-one patients, who were negative for inv-1/inv-22, were selected for analysis by next generation sequencing, thereafter confirmed by Sanger sequencing. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.18388/abp.2018_2339DOI Listing
February 2019
1 Read
1.153 Impact Factor

Characterization and treatment of congenital thrombotic thrombocytopenic purpura.

Blood 2019 Apr 15;133(15):1644-1651. Epub 2019 Feb 15.

Department of Haematology, University College London Hospital (UCLH), London, United Kingdom.

Congenital thrombotic thrombocytopenic purpura (cTTP) is an ultra-rare thrombomicroangiopathy caused by an inherited deficiency of a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13 (ADAMTS13). There are limited data on genotype-phenotype correlation; there is no consensus on treatment. We reviewed the largest cohort of cTTP cases, diagnosed in the United Kingdom, over the past 15 years. Read More

View Article

Download full-text PDF

Source
http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-11
Publisher Site
http://dx.doi.org/10.1182/blood-2018-11-884700DOI Listing
April 2019
10 Reads

A phase III study comparing secondary long-term prophylaxis versus on-demand treatment with vWF/FVIII concentrates in severe inherited von Willebrand disease.

Blood Transfus 2019 Feb 4:1-8. Epub 2019 Feb 4.

Division of Haematology and Transfusion Medicine, "Luigi Sacco" University Hospital, Milan, Italy.

Background: There is a lack of prospective clinical trials specifically designed to evaluate the benefits of prophylaxis with vWF/FVIII concentrates in patients with inherited von Willebrand disease (vWD). The aim of the study was to compare efficacy of secondary long-term prophylaxis (PRO) with vWF/FVIII in the prevention of bleeding episodes in severe vWD patients to standard of care (on-demand treatment; ODT).

Materials And Methods: In this 12-month, phase III, open-label study (PRO. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2450/2019.0183-18DOI Listing
February 2019
3 Reads

Analysis of von Willebrand Disease in the South Moravian Population (Czech Republic): Results from the BRNO-VWD Study.

Thromb Haemost 2019 Apr 5;119(4):594-605. Epub 2019 Feb 5.

Haemostasis Unit, Antwerp University Hospital, Edegem, Belgium.

Background:  von Willebrand disease (VWD) is an inherited bleeding disorder caused by a quantitative (type 1 and 3) or qualitative (type 2) defect of von Willebrand factor (VWF). The heterogeneity of laboratory phenotyping makes diagnosing difficult.

Objective:  A cross-sectional, family-based VWD study in a collaboration between University Hospital Brno (Czech Republic) and Antwerp University Hospital (Belgium) to improve the understanding of laboratory phenotype/genotype correlation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0039-1678528DOI Listing
April 2019
4 Reads

Tissue factor pathway inhibitor is the main determinant of thrombin generation in haemophilic patients.

Haemophilia 2019 Mar 28;25(2):343-348. Epub 2019 Jan 28.

INSERM, U1059, SAINBIOSE, Université de Lyon, UJM-Saint-Etienne, Saint-Etienne, France.

The thrombin generation (TG) assay evaluates haemostatic balance, which is influenced by the levels of many coagulation factors and inhibitors. Our objective was to identify the determinant factors of TG in haemophilia A (HA) and haemophilia B (HB) patients and to compare them to those in healthy controls. Coagulation factor and inhibitor levels, and TG, were measured in platelet-poor plasma from 40 patients with HA, 32 patients with HB and 40 healthy subjects. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13679DOI Listing
March 2019
3 Reads

Sports participation and physical activity in adult Dutch and Swedish patients with severe haemophilia: A comparison between intermediate- and high-dose prophylaxis.

Haemophilia 2019 Mar 28;25(2):244-251. Epub 2019 Jan 28.

Van Creveldkliniek, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

Introduction: Differences in treatment and outcome have been reported for persons with haemophilia (PWH) on intermediate-dose (Dutch) and high-dose (Swedish) prophylaxis, but the potential influence of sports participation has not been considered.

Aim: To compare sports participation and clinical outcome between adult Dutch and Swedish PWH.

Methods: Self-reported sports participation (type and frequency per week), physical functioning (SF-36 : 100-0), joint status (HJHS: 0-144), perceived limitations (HAL : 100-0) and physical activity (IPAQ) were recorded. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13683DOI Listing

Viral Vector-Based Delivery of CRISPR/Cas9 and Donor DNA for Homology-Directed Repair in an In Vitro Model for Canine Hemophilia B.

Mol Ther Nucleic Acids 2019 Mar 20;14:364-376. Epub 2018 Dec 20.

Institute for Virology and Microbiology, Center for Biomedical Education and Research (ZBAF), Department of Human Medicine, Faculty of Health, Witten/Herdecke University, 58453 Witten, Germany. Electronic address:

Gene therapy represents an attractive alternative to treat hemophilia B. Here we established three hepatocyte-derived cell lines based on Huh7, PLC/PRF/5, and Hep3B cells stably carrying a mutated canine FIX (cFIXmut) transgene containing a single point mutation in the catalytic domain. Based on these in vitro models resembling a commonly used canine large animal model, the tetracycline-controlled transcriptional activator (Tet-on)-inducible CRISPR/Cas9 system and an optimized donor were used to correct mutated cFIX gene through homology-directed repair (HDR). Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.omtn.2018.12.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356096PMC
March 2019
1 Read

Serum Sclerostin Level and Bone Mineral Density in Pediatric Hemophilic Arthropathy.

Indian J Pediatr 2019 Jan 22. Epub 2019 Jan 22.

Department of Clinical Pathology, Ain Shams University Hospitals, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Objective: To assess serum sclerostin levels in relation to severity of arthropathy and bone mineral density (BMD) in children with hemophilic arthropathy.

Methods: This cross-sectional study included 40 male children suffering from Hemophilia A, and 10 matched healthy controls. Assessment of factor VIII deficiency degree, frequency of bleeding, type of treatment, body mass index (BMI), disease severity using the Hemophilia Joint Health Score (HJHS) and lumbar spine (LS) Z score for bone mineral density (BMD) using dual-energy X-ray absorbiometry was done. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-019-02855-1DOI Listing
January 2019
4 Reads

Laboratory assay measurement of modified clotting factor concentrates: a review of the literature and recommendations for practice.

J Thromb Haemost 2019 Apr 17;17(4):567-573. Epub 2019 Feb 17.

Cambridge Haemophilia and Thrombophilia Centre, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Over the past several years, novel modified clotting factor concentrates (CFCs) have been introduced into practice and are now widely prescribed in the countries where they are licensed. These products allow for less frequent infusions of CFC, thereby providing improved convenience and/or higher trough levels. They have been extensively studied for prophylaxis, episodic treatment of bleeding and for surgical prophylaxis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jth.14394DOI Listing
April 2019
2 Reads

Loss of fibrinogen in zebrafish results in an asymptomatic embryonic hemostatic defect and synthetic lethality with thrombocytopenia.

J Thromb Haemost 2019 Apr 25;17(4):607-617. Epub 2019 Feb 25.

Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA.

Essentials Loss of fibrinogen in zebrafish has been previously shown to result in adult onset hemorrhage Hemostatic defects were discovered in early fga embryos but well tolerated until adulthood Afibrinogenemia and thrombocytopenia results in synthetic lethality in zebrafish. Testing human FGA variants of uncertain significance in zebrafish identified causative mutations SUMMARY: Background Mutations in the alpha chain of fibrinogen (FGA), such as deficiencies in other fibrinogen subunits, lead to rare inherited autosomal recessive hemostatic disorders. These range from asymptomatic to catastrophic life-threatening bleeds and the molecular basis of inherited fibrinogen deficiencies is only partially understood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jth.14391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443434PMC
April 2019
2 Reads

Macrophage Polarization is Deregulated in Haemophilia.

Thromb Haemost 2019 Feb 16;119(2):234-245. Epub 2019 Jan 16.

Institute of Clinical Hemostaseology and Transfusion Medicine, Saarland University Medical Center, Saarland University Faculty of Medicine, Saarland University, Homburg, Germany.

Macrophages make important contributions to inflammation and wound healing. We show here that macrophage polarization is deregulated in haemophilia in response to macrophage colony-stimulating factor (M-CSF) and partially in response to granulocyte-macrophage colony-stimulating factor (GM-CSF). As a result, haemophilia macrophages exhibit a specific impairment of M-CSF-mediated functions involved in wound healing such as clot invasion and phagocytosis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1055/s-0038-1676796DOI Listing
February 2019
3 Reads

Bleed volume of experimental knee haemarthrosis correlates with the subsequent degree of haemophilic arthropathy.

Haemophilia 2019 Mar 16;25(2):324-333. Epub 2019 Jan 16.

Global Drug Discovery, Novo Nordisk A/S, Maaloev, Denmark.

Background: Haemophilic arthropathy is the main morbidity of haemophilia. The individual pathological response to the same number of clinically evident joint bleeds is highly variable; thus, it remains unknown if certain joint bleeding characteristics are critical for the development of arthropathy.

Aim: To study the relation between bleed volume and subsequent development of arthropathy, we aimed to develop quantitative in vivo imaging of active joint bleeds in a mouse model of haemophilia. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/hae.13672
Publisher Site
http://dx.doi.org/10.1111/hae.13672DOI Listing
March 2019
8 Reads

Routine Preoperative Coagulation Tests in Children Undergoing Elective Surgery or Invasive Procedures: Are They Still Necessary?

Clin Med Insights Blood Disord 2019 5;12:1179545X18821158. Epub 2019 Jan 5.

Department of Central Military Laboratory and Blood Bank, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

Introduction: Preoperative coagulation screening tests in pediatric patients was once routine clinical practice globally and still used as standard practice in some countries before surgical procedures to assess of perioperative bleeding risk.

Objective: The study aimed to evaluate unselected routine preoperative coagulation testing in children undergoing elective or invasive surgery to predict abnormal perioperative bleeding. The study also aimed to provide a rational approach of determining bleeding and family history of coagulation disorders as a predictive risk for bleeding. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/1179545X18821158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322095PMC
January 2019
5 Reads

Comparative accuracy of optical sensor-based wearable system for non-invasive measurement of blood glucose concentration.

Clin Biochem 2019 Mar 7;65:15-20. Epub 2019 Jan 7.

Maale Carmel Mental Health Center Affiliated to Bruce Rappaport Medical Faculty, Technion, Tirat Carmel, Israel.

Non-invasive biosensors for indirect evaluation of routinely-measured blood components by sweat analysis have broad potential clinical applications. This trial tested a wrist-borne non-invasive glucose monitor (NIGM) to measure blood glucose (BG) levels using photoplethysmographic (PPG) optical sensors. Our aim was to determine the accuracy of the device in comparison with a standard, invasive clinical method for blood glucose monitoring. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.clinbiochem.2018.12.014DOI Listing
March 2019
14 Reads

Individual risk factors predictive of venous thromboembolism in patients with temporary lower limb immobilization due to injury: a systematic review.

J Thromb Haemost 2019 Feb 7;17(2):329-344. Epub 2019 Feb 7.

Thrombosis and Haemophilia Centre, St Thomas' Hospital, London, UK.

Essentials Thromboprophylaxis after lower limb injury is often based on complex risk stratification. Our systematic review identified variables predicting venous thromboembolism (VTE) in this group. Age and injury type were commonly reported to increase the odds of VTE (odds ratio 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jth.14367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6392108PMC
February 2019
1 Read

Anaphylaxis after treatment with recombinant factor VIII: investigation and therapeutic challenge.

BMJ Case Rep 2018 Dec 14;11(1). Epub 2018 Dec 14.

Application Lab, R&D Department, Roxall Group, Bilbao, Spain.

We report a 10-year-old patient with haemophilia A developing anaphylaxis to recombinant factor VIII (octocog alfa). Allergic reactions, and especially anaphylactic events, are rare in patients with haemophilia A. The nature of these reactions is not fully understood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2018-227426DOI Listing
December 2018
1 Read

AAV8 Gene Therapy for Crigler-Najjar Syndrome in Macaques Elicited Transgene T Cell Responses That Are Resident to the Liver.

Mol Ther Methods Clin Dev 2018 Dec 5;11:191-201. Epub 2018 Dec 5.

Gene Therapy Program, Department of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Systemic delivery of adeno-associated viral (AAV) vectors has been evaluated for the treatment of several liver diseases, including homozygous familial hypercholesterolemia, ornithine transcarbamylase deficiency, and hemophilia. Here, we evaluated this approach for the treatment of Crigler-Najjar syndrome. We administered wild-type rhesus macaques with 1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.omtm.2018.10.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282099PMC
December 2018
2 Reads

Factor VIII with a 237 amino acid B-domain has an extended half-life in F8-knockout mice.

J Thromb Haemost 2019 Feb 25;17(2):350-360. Epub 2019 Jan 25.

Novo Nordisk A/S, Novo Nordisk Park, Måløv, Denmark.

Essentials Factor (F)VIII with an intermediate-length B-domain showed higher levels in murine gene therapy. FVIII with different B-domain lengths were analysed. FVIII variants with B-domains between 186 and 240 amino acids (aa) have extended half-life in mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/jth.14355DOI Listing
February 2019
1 Read

Evaluation of EC50 of factor VIII as predictor of prophylaxis efficacy in patients with severe haemophilia A.

Eur J Pharm Sci 2019 Feb 7;128:215-221. Epub 2018 Dec 7.

La Paz University Hospital, Haematology and Haemotherapy Department, Madrid, Spain. Electronic address:

Trough factor (F) VIII level is a not reliable bleeding risk indicator to predict prophylaxis efficacy in severe haemophilia A (SHA), therefore, accurate biomarkers are much needed. Thrombelastography (TEG) monitors both thrombin and clot formation addressing the global haemostatic status but its usefulness to tailor prophylaxis in haemophilia has been poorly evaluated. In this study, correspondence between individual pharmacodynamic/pharmacokinetic profile of FVIII and joint condition, physical activity and bleeding phenotype of SHA patients under prophylactic treatment was assessed. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejps.2018.12.003DOI Listing
February 2019
1 Read

Potential limits of AAV-based gene therapy with the use of new transgenes expressing factor IX fusion proteins.

Haemophilia 2019 Jan 6;25(1):e11-e18. Epub 2018 Dec 6.

Research Department of Haematology, University of London Cancer Institute, London, UK.

Introduction: The variety of treatment for haemophilia B (HB) has recently improved with the emergence of both AAV-based gene therapy and bioengineered human factor IX (hFIX) molecules with prolonged half-life due to fusion to either albumin (Alb) or immunoglobulin Fc fragment (Fc).

Aim: Adeno-associated viral vectors (AAV) mediating expression of hFIX-Alb and hFIX-Fc fusion proteins was investigated for gene therapy of HB to explore if their extended half-life translates to higher plasma levels of FIX.

Methods: Single-stranded cross-packaged AAV2/8 vectors expressing hFIX-Alb, hFIX-Fc and hFIX were evaluated in vitro, and in mice. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13651DOI Listing
January 2019
5 Reads

Genotype analysis and identification of novel mutations in a multicentre cohort of patients with hereditary factor X deficiency.

Blood Coagul Fibrinolysis 2019 Jan;30(1):34-41

St. George's Haemophilia Centre, St. George's University Hospitals NHS Foundation Trust, London, UK.

: The objective was to examine the genotypic and phenotypic characteristics of individuals with hereditary factor X deficiency (FXD), a rare autosomal recessive bleeding disorder caused by mutations in the F10 gene located on chromosome 13q34-ter. To date, 149 F10 mutations have been identified as contributory to FXD. Three open-label phase 3 trials enrolled individuals with mild, moderate, or severe FXD. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/MBC.0000000000000787DOI Listing
January 2019
3 Reads

Acquired Hemophilia A in Aged People: A Systematic Review of Case Reports and Case Series.

Semin Hematol 2018 10 21;55(4):197-201. Epub 2018 Feb 21.

Faculty of Medicine, University of Reims Champagne-Ardenne, Reims, France; Department of Research and Public Health, University Hospitals of Reims, Robert Debré Hospital, Reims, France.

Acquired hemophilia A (AHA) is a rare disease that requires urgent management. Currently, there is no consensus regarding optimal management in aged people. This systematic review aimed to describe diagnosis, clinical features, management, and endpoints in population aged 65 years or over with AHA. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/j.seminhematol.2018.02.004DOI Listing
October 2018

Effect of Lanadelumab Compared With Placebo on Prevention of Hereditary Angioedema Attacks: A Randomized Clinical Trial.

JAMA 2018 11;320(20):2108-2121

Department of Dermatology and Allergy, Dermatological Allergology, Charité-Universitätsmedizin Berlin, Berlin, Germany.

Importance: Current treatments for long-term prophylaxis in hereditary angioedema have limitations.

Objective: To assess the efficacy of lanadelumab, a fully human monoclonal antibody that selectively inhibits active plasma kallikrein, in preventing hereditary angioedema attacks.

Design, Setting, And Participants: Phase 3, randomized, double-blind, parallel-group, placebo-controlled trial conducted at 41 sites in Canada, Europe, Jordan, and the United States. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jama.2018.16773DOI Listing
November 2018
9 Reads

Cardiovascular disease-related hospitalization and mortality among persons with von Willebrand disease: A nationwide register study in Sweden.

Haemophilia 2019 Jan 23;25(1):109-115. Epub 2018 Nov 23.

Department of Translational Medicine, Skåne University Hospital, Lund University, Malmö, Sweden.

Introduction: It has been hypothesized that persons with von Willebrand disease (VWD) may be protected against arterial thrombosis despite having atherosclerosis.

Aim: To calculate a nationwide estimate of the absolute and comparative burden of cardiovascular disease (CVD) hospitalization and mortality among persons with VWD using birthdate and sex-matched comparisons from the general population in Sweden.

Methods: Persons with VWD regardless of the type and severity, diagnosed by a medical doctor, who lived in Sweden for some time during the observation period 1987 through 2008 were included. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/hae.13642DOI Listing
January 2019
17 Reads
2.603 Impact Factor

Fusion of Factor IX to Factor XIII-B Sub-Unit Improves the Pharmacokinetic Profile of Factor IX.

Thromb Haemost 2018 Dec 19;118(12):2053-2063. Epub 2018 Nov 19.

EA4609-Hemostase et Cancer, Universite Claude Bernard Lyon I, Lyon, France.

Prophylaxis is currently considered the optimal care for severe haemophilia. For patients and their families one of the major difficulties with prophylaxis is the need for frequent venipunctures. The half-life of standard factor IX (FIX) concentrates is approximately 18 hours, which requires 2 or 3 intravenous infusions per week to achieve bleeding prevention in patients with severe haemophilia B. Read More

View Article

Download full-text PDF

Source
http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1675787
Publisher Site
http://dx.doi.org/10.1055/s-0038-1675787DOI Listing
December 2018
13 Reads

Suppressing protein Z-dependent inhibition of factor Xa improves coagulation in hemophilia A.

J Thromb Haemost 2019 Jan 16;17(1):149-156. Epub 2018 Dec 16.

Division of Hematology, Department of Medicine, Washington University School of Medicine, St Louis, MO, USA.

Essentials Protein Z (PZ) catalyzes PZ-dependent proteinase inhibitor (ZPI) inactivation of factor (F)Xa. Gene-deletion of PZ or ZPI improves coagulation in hemophilia (FVIII knockout) mice. A PZ blocking antibody enhances thrombin generation in human hemophilia plasma. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/jth.14337
Publisher Site
http://dx.doi.org/10.1111/jth.14337DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322933PMC
January 2019
23 Reads

Musculoskeletal ultrasonography for arthropathy assessment in patients with hemophilia: A single-center cross-sectional study from Shanxi Province, China.

Medicine (Baltimore) 2018 Nov;97(46):e13230

Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan, Shanxi, China.

Magnetic resonance imaging (MRI) is currently considered the gold standard for assessing hemophilic arthropathy (HA) severity; however, MRI is often costly, time-consuming, and difficult to perform in children. In the present study, we evaluated the joint status of hemophilic patients from Shanxi Province, China, using musculoskeletal ultrasonography (MSKUS) and identified the factors that most strongly correlated with disease severity.The study included 104 patients with hemophilia, who underwent MSKUS examination. Read More

View Article

Download full-text PDF

Source
http://Insights.ovid.com/crossref?an=00005792-201811160-0004
Publisher Site
http://dx.doi.org/10.1097/MD.0000000000013230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257645PMC
November 2018
13 Reads

Sports participation and physical activity in patients with von Willebrand disease.

Haemophilia 2019 Jan 14;25(1):101-108. Epub 2018 Nov 14.

Department of Hematology, Erasmus University Medical Center, Rotterdam, The Netherlands.

Introduction: Patients with bleeding disorders may experience limitations in sports participation and physical activity. Several studies on sports participation have been performed in haemophilia patients, but studies in patients with von Willebrand disease (VWD) are lacking.

Aim: We assessed the sports participation and physical activity of a large cohort of VWD patients. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/hae.13629
Publisher Site
http://dx.doi.org/10.1111/hae.13629DOI Listing
January 2019
17 Reads

Coagulation phenotype of wild-type mice on different genetic backgrounds.

Lab Anim 2019 Feb 12;53(1):43-52. Epub 2018 Nov 12.

Shire, Vienna, Austria.

Genetically engineered mouse models are used to investigate beneficial treatment in haemophilia by comparison with wild-type mice. It has been recognized that wild-type and haemophilic mice of different genetic backgrounds show different bleeding phenotypes. We assessed ex-vivo coagulation parameters in nine wild-type substrains of 129S1/Sv, BALB/c and C57BL/6 mice applying thromboelastography (TEG), activated partial thromboplastin time (aPTT), prothrombin time (PT) and fibrinogen levels. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0023677218811059DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416704PMC
February 2019
12 Reads

Severe haemophilia A in a neonate presenting as haemopneumothorax after tracheo-oesophageal fistula-oesophageal atresia repair.

BMJ Case Rep 2018 Nov 8;2018. Epub 2018 Nov 8.

Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.

A male infant with oesophageal atresia and distal tracheo-oesophageal fistula (TEF type C) underwent right thoracotomy and transpleural repair of TEF on day 4 of life. He did not have a family history of coagulation disorders. A preoperative finding of prolonged partial thromboplastin time (PTT)>200 s was overlooked, and he went to surgery. Read More

View Article

Download full-text PDF

Source
http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22552
Publisher Site
http://dx.doi.org/10.1136/bcr-2018-225526DOI Listing
November 2018
14 Reads

Recombinant factor VIII Fc fusion protein drives regulatory macrophage polarization.

Blood Adv 2018 Nov;2(21):2904-2916

Bioverativ, a Sanofi company, Waltham, MA; and.

The main complication of replacement therapy with factor in hemophilia A (HemA) is the formation of inhibitors (neutralizing anti-factor VIII [FVIII] antibodies) in ∼30% of severe HemA patients. Because these inhibitors render replacement FVIII treatment essentially ineffective, preventing or eliminating them is of top priority in disease management. The extended half-life recombinant FVIII Fc fusion protein (rFVIIIFc) is an approved therapy for HemA patients. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/bloodadvances.2018024497DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234359PMC
November 2018
11 Reads

von Willebrand factor clearance - biological mechanisms and clinical significance.

Br J Haematol 2018 Oct;183(2):185-195

Haemostasis Research Group, Irish Centre for Vascular Biology, Royal College of Surgeons in Ireland, Dublin, Ireland.

The mechanisms involved in regulating von Willebrand factor (VWF) clearance remain poorly understood. However recent studies have shown that macrophages play a critical role in regulating the half-life of VWF, and have identified specific lectin (including asialoglycoprotein, macrophage galactose-type lectin, Sigec-5 and C-type lectin domain family 4 member M) and scavenger receptors (including low-density lipoprotein receptor-related protein-1, scavenger receptor A1 and stabilin-2) that are involved in VWF clearance. Further studies will be required to determine the relative importance of these individual receptors with respect to physiological and pathological VWF clearance. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/bjh.15565
Publisher Site
http://dx.doi.org/10.1111/bjh.15565DOI Listing
October 2018
3 Reads

Evaluation of a semi-automated von Willebrand factor multimer assay, the Hydragel 5 von Willebrand multimer, by two European Centers.

Res Pract Thromb Haemost 2018 Oct 12;2(4):790-799. Epub 2018 Aug 12.

Department of Coagulation Sheffield Haemophilia and Thrombosis Centre Sheffield UK.

Background: The phenotypic diagnosis of von Willebrand disease (VWD) is a multistep process with classification dependent on the quantification of von Willebrand factor (VWF) multimeric structure. VWF multimer analysis is a technically challenging, lengthy and non-standardised assay, usually performed in specialist laboratories. Recently, a new semi-automated multimer assay, the Hydragel 5 von Willebrand multimers (H5VWM) has become available. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/rth2.12141
Publisher Site
http://dx.doi.org/10.1002/rth2.12141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6178608PMC
October 2018
5 Reads