2,460 results match your criteria Hemophilia Type A


Anti-atherogenic Modification of Serum Lipoprotein Function in Patients with Rheumatoid Arthritis after Tocilizumab Treatment, a Pilot Study.

J Clin Med 2020 Jul 8;9(7). Epub 2020 Jul 8.

Department of Food and Drug, University of Parma, 43124 Parma, Italy.

Lipid metabolism derangement contributes to increased cardiovascular risk in Rheumatoid Arthritis (RA). It is still debated whether and how tocilizumab, an interleukin-6 receptor inhibitor used in active RA, impacts cardiovascular risk. We studied the effect of tocilizumab on the regulation of macrophage cholesterol homeostasis, measuring patient serum ability to respectively load (cholesterol loading capacity, CLC) and discharge (cholesterol efflux capacity, CEC) cells with cholesterol. Read More

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http://dx.doi.org/10.3390/jcm9072157DOI Listing

A microchip flow-chamber assay screens congenital primary hemostasis disorders.

Pediatr Int 2020 Jul 8. Epub 2020 Jul 8.

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

Background: Von Willebrand disease (VWD) and platelet function disorders (PFDs) are congenital bleeding disorders caused by primary hemostasis defects. Platelet function tests are time-consuming and require considerable amounts of blood sample, and there were no easy-to-use assays for assessing platelet function quickly and sensitively. We reported the usefulness of a microchip flow-chamber system (T-TAS ) for detecting and/or predicting clinical severities in patients with VWD type 1 and 2N and platelet storage pool disease. Read More

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http://dx.doi.org/10.1111/ped.14378DOI Listing

Initial joint bleed volume in a delayed on-demand treatment setup correlates with subsequent synovial changes in hemophilic mice.

Animal Model Exp Med 2020 Jun 3;3(2):160-168. Epub 2020 Jun 3.

Global Drug Discovery Novo Nordisk A/S Maaloev Denmark.

Background: Hemophilic arthropathy is a debilitating morbidity of hemophilia caused by recurrent joint bleeds. We investigated if the joint bleed volume, before initiation of treatment, was linked to the subsequent degree of histopathological changes and the development of bone pathology in a mouse model of hemophilic arthropathy.

Methods: FVIII knock-out (F8-KO) mice were dosed with a micro-CT blood pool agent prior to induction of hemarthrosis. Read More

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http://dx.doi.org/10.1002/ame2.12118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323705PMC

von Willebrand disease: Diagnosis and treatment, treatment of women, and genomic approach to diagnosis.

Haemophilia 2020 Jun 23. Epub 2020 Jun 23.

Research Institute, Bloodworks Northwest, Seattle, WA, USA.

von Willebrand disease (VWD) is the most common inherited bleeding disorder. VWD is caused by deficiencies in von Willebrand factor (VWF), a critical adhesive haemostatic protein. This review provides an overview of VWD diagnosis and treatment, special considerations in treating women with VWD, and current genomic approaches to VWD. Read More

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http://dx.doi.org/10.1111/hae.14050DOI Listing

Comparison of von Willebrand factor platelet-binding activity assays: ELISA overreads type 2B with loss of HMW multimers.

J Thromb Haemost 2020 Jun 23. Epub 2020 Jun 23.

Third Department of Internal Medicine, Semmelweis University, Budapest, Hungary.

Background: A number of new assays with different measuring principles are available to measure VWF GPIb-binding activity, but little is known about how these assays might behave differently for subtypes of VWD.

Objectives: The COMPASS-VWF study was designed to compare all available VWF GPIb-binding activity assays for von Willebrand factor. We specifically searched for particular assay behavior differences. Read More

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http://dx.doi.org/10.1111/jth.14971DOI Listing

Targeted inhibition of activated protein C by a non-active-site inhibitory antibody to treat hemophilia.

Nat Commun 2020 Jun 12;11(1):2992. Epub 2020 Jun 12.

TRG-Cardiology/Hematology, Bayer AG, Aprather Weg 18a, 42113, Wuppertal, Germany.

Activated protein C (APC) is a plasma serine protease with antithrombotic and cytoprotective functions. Based on the hypothesis that specific inhibition of APC's anticoagulant but not its cytoprotective activity can be beneficial for hemophilia therapy, 2 types of inhibitory monoclonal antibodies (mAbs) are tested: A type I active-site binding mAb and a type II mAb binding to an exosite on APC (required for anticoagulant activity) as shown by X-ray crystallography. Both mAbs increase thrombin generation and promote plasma clotting. Read More

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http://dx.doi.org/10.1038/s41467-020-16720-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7293249PMC

[Acquired hemophilia A complicated by dipeptidyl peptidase-4 inhibitor-associated bullous pemphigoid].

Rinsho Ketsueki 2020 ;61(5):451-454

Department of Hematology, Matsunami General Hospital.

A 72-year-old man developed dipeptidyl peptidase-4 inhibitor-associated bullous pemphigoid (BP) during treatment for type 2 diabetes mellitus and was administered prednisolone (PSL, 0.5 mg/kg). Despite PSL treatment at a daily dose of 19 mg/day, purpura appeared on his bilateral forearms 3 months later. Read More

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http://dx.doi.org/10.11406/rinketsu.61.451DOI Listing
January 2020

Attenuation of Heparan Sulfate Proteoglycan Binding Enhances Transduction of Human Primary Hepatocytes with AAV2.

Mol Ther Methods Clin Dev 2020 Jun 13;17:1139-1154. Epub 2020 May 13.

Translational Vectorology Research Unit, Children's Medical Research Institute, The University of Sydney, Westmead, NSW 2145, Australia.

Use of the prototypical adeno-associated virus type 2 (AAV2) capsid delivered unexpectedly modest efficacy in an early liver-targeted gene therapy trial for hemophilia B. This result is consistent with subsequent data generated in chimeric mouse-human livers showing that the AAV2 capsid transduces primary human hepatocytes with low efficiency. In contrast, novel variants generated by directed evolution in the same model, such as AAV-NP59, transduce primary human hepatocytes with high efficiency. Read More

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http://dx.doi.org/10.1016/j.omtm.2020.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7260615PMC

von Willebrand Factor and Factor VIII Clearance in Perioperative Hemophilia A Patients.

Thromb Haemost 2020 Jul 1;120(7):1056-1065. Epub 2020 Jun 1.

Department of Pediatric Hematology, Erasmus University Medical Center - Sophia Children's Hospital, Rotterdam, The Netherlands.

Background:  von Willebrand factor (VWF) is crucial for optimal dosing of factor VIII (FVIII) concentrate in hemophilia A patients as it protects FVIII from premature clearance. To date, it is unknown how VWF behaves and what its impact is on FVIII clearance in the perioperative setting.

Aim:  To investigate VWF kinetics (VWF antigen [VWF:Ag]), VWF glycoprotein Ib binding (VWF:GPIbM), and VWF propeptide (VWFpp) in severe and moderate perioperative hemophilia A patients included in the randomized controlled perioperative OPTI-CLOT trial. Read More

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http://dx.doi.org/10.1055/s-0040-1710591DOI Listing

Relevance of the Materno-Fetal Interface for the Induction of Antigen-Specific Immune Tolerance.

Front Immunol 2020 14;11:810. Epub 2020 May 14.

Centre de Recherche des Cordeliers, INSERM, Sorbonne Université, Université de Paris, Paris, France.

In humans, maternal IgGs are transferred to the fetus from the second trimester of pregnancy onwards. The transplacental delivery of maternal IgG is mediated by its binding to the neonatal Fc receptor (FcRn) after endocytosis by the syncytiotrophoblast. IgGs present in the maternal milk are also transferred to the newborn through the digestive epithelium upon binding to the FcRn. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7240014PMC

A bispecific antibody demonstrates limited measurability in routine coagulation assays.

Blood Coagul Fibrinolysis 2020 May 27. Epub 2020 May 27.

Baxalta Innovations GmbH, Vienna, Austria.

: Accurate monitoring of coagulation, needed for optimal management of patients with haemophilia A with inhibitors, presents a challenge for treating physicians. Although global haemostatic assays may be used in this population, their utility with nonfactor therapies has yet to be established in the clinical setting. The aim of this study was to assess options for potential haemostatic activity monitoring and feasibility for factor VIII (FVIII)-equivalency measurement with a sequence identical analogue (SIA) to emicizumab using different coagulation assays. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000921DOI Listing

Deciphering the Ets-1/2-mediated transcriptional regulation of F8 gene identifies a minimal F8 promoter for hemophilia A gene therapy.

Haematologica 2020 May 28. Epub 2020 May 28.

Department of Health Sciences, Università del Piemonte Orientale, Novara, Italy;

A major challenge in the development of a gene therapy for hemophilia A (HA) is the selection of cell type- or tissue-specific promoters to ensure factor VIII (FVIII) expression without eliciting an immune response. As liver sinusoidal endothelial cells (LSECs) are the major FVIII source, understanding the transcriptional F8 regulation in these cells would help optimize the minimal F8 promoter (pF8) to efficiently drive FVIII expression. In silico analyses predicted several binding sites (BS) for the E26 transformation-specific (Ets) transcription factors Ets-1 and Ets-2 in the pF8. Read More

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http://dx.doi.org/10.3324/haematol.2019.239202DOI Listing

Prevalence and Incidence of Non-neutralizing Antibodies in Congenital Hemophilia A- A Systematic Review and Meta-Analysis.

Front Immunol 2020 7;11:563. Epub 2020 May 7.

Department of Pediatric Hematology, Amsterdam UMC, Emma Children's Hospital, University of Amsterdam, Amsterdam, Netherlands.

In hemophilia A the presence of non-neutralizing antibodies (NNAs) against Factor VIII (FVIII) may predict the development of neutralizing antibodies (inhibitors) and accelerate the clearance of administrated FVIII concentrates. This systematic review aimed to assess: (1) the prevalence and incidence of NNAs in patients with congenital hemophilia without inhibitors and (2) the association between NNAs and patient and treatment characteristics. We conducted a search in MEDLINE, Embase, Web of Science and the Cochrane database. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00563DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7221178PMC

The role of telemedicine in the delivery of healthcare in the COVID-19 Pandemic.

Haemophilia 2020 May 12. Epub 2020 May 12.

University of Michigan, Ann Arbor, MI, USA.

On 11 March 2020, the World Health Organization declared the coronavirus disease 2019 (COVID-19) a pandemic. Recently, Hermans, et.al. Read More

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http://dx.doi.org/10.1111/hae.14044DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272827PMC

Implantable venous access devices in children with severe hemophilia: a tertiary pediatric institutional experience.

Pediatr Radiol 2020 Jul 11;50(8):1148-1155. Epub 2020 May 11.

Department of Radiology, The Children's Hospital of Philadelphia, 34th Street and Civic Center Boulevard, Philadelphia, PA, 19104, USA.

Background: Clotting factor replacement forms the pillar of treatment for children with hemophilia. Most children can be treated using peripheral venipuncture, but very young children and children with poor venous access might require a central venous catheter. Short-term and long-term complications of implantable venous access device placement (also known as port placement) can result in important morbidity and mortality in children with hemophilia. Read More

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http://dx.doi.org/10.1007/s00247-020-04668-3DOI Listing

Bleeding symptoms in patients diagnosed as type 3 Von Willebrand Disease: results from 3WINTERS-IPS, an international and collaborative cross-sectional study.

J Thromb Haemost 2020 May 7. Epub 2020 May 7.

Hematology and Transfusion Medicine, L. Sacco University Hospital, Department of Oncology and Oncohematology, University of Milan, Milano, Italy.

Background: Type 3 von Willebrand's disease (VWD) patients present markedly reduced levels of von Willebrand factor and factor VIII. Because of its rarity, the bleeding phenotype of type 3 VWD is poorly described, as compared to type 1 VWD.

Aims: To evaluate the frequency and the severity of bleeding symptoms across age and sex groups in type 3 patients and to compare these with those observed in type 1 VWD patients; to investigate any possible clustering of bleeding symptoms within type 3 patients. Read More

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http://dx.doi.org/10.1111/jth.14886DOI Listing

Identification of novel glycosylation events on human serum-derived factor IX.

Glycoconj J 2020 Aug 6;37(4):471-483. Epub 2020 May 6.

School of Chemistry and Molecular Biosciences, The University of Queensland, St Lucia, QLD, 4072, Australia.

Human Factor IX is a highly post-translationally modified protein that is an important clotting factor in the blood coagulation cascade. Functional deficiencies in Factor IX result in the bleeding disorder haemophilia B, which is treated with plasma-derived or recombinant Factor IX concentrates. Here, we investigated the post-translational modifications of human serum-derived Factor IX and report previously undescribed O-linked monosaccharide compositions at serine 141 and a novel site of glycosylation. Read More

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http://dx.doi.org/10.1007/s10719-020-09922-2DOI Listing

Modeling to Predict Factor VIII Levels Associated with Zero Bleeds in Patients with Severe Hemophilia A Initiated on Tertiary Prophylaxis.

Thromb Haemost 2020 May 5;120(5):728-736. Epub 2020 May 5.

Baxalta US Inc, a member of the Takeda group of companies, Lexington, Massachusetts, United States.

Background:  Factor VIII (FVIII) trough levels > 1 IU/dL in patients with severe hemophilia A receiving regular prophylaxis may optimize bleed protection.

Objectives:  In this post hoc analysis of patients receiving tertiary prophylaxis for approximately 1 year, the relationship between estimated FVIII levels and reported bleeds was investigated to predict the potential for zero bleeds.

Methods:  Sixty-three patients (median [range] age, 28 [7-59] years) with severe hemophilia A (229 bleeds) were included. Read More

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http://dx.doi.org/10.1055/s-0040-1709519DOI Listing
May 2020
4.984 Impact Factor

Physical activity levels in men with Haemophilia-A single centre UK survey.

Haemophilia 2020 May 4. Epub 2020 May 4.

Physiotherapy Research Unit, Nuffield Orthopaedic Centre, Headington, UK.

Introduction: Historically persons with haemophilia (PWH) were not encouraged to participate in exercise due to the risk of bleeding and the lack of factor products available. This has now changed, and the availability of safe products allows PWH to be active and participate in sports. Studies have found that exercise has a positive effect on pain, joint health and movement with PWH. Read More

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http://dx.doi.org/10.1111/hae.14009DOI Listing

Therapeutic doses of recombinant factor VIIa in hemophilia generates thrombin in platelet-dependent and -independent mechanisms.

J Thromb Haemost 2020 May 2. Epub 2020 May 2.

Department of Cellular and Molecular Biology, The University of Texas Health Science Center at Tyler, Tyler, TX, USA.

Background: In hemophilia bypass therapy, a platelet-dependent mechanism is believed to be primarily responsible for recombinant factor VIIa (rFVIIa)'s hemostatic effect. rFVIIa may also possibly interact with other cells through its binding to endothelial cell protein C receptor (EPCR) or cell surface phospholipids.

Objectives: We aim to investigate the relative contribution of platelet-dependent and platelet-independent mechanisms in rFVIIa-mediated thrombin generation in hemophilic conditions at the injury site. Read More

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http://dx.doi.org/10.1111/jth.14881DOI Listing

[Origin and nature of the neutralizing immune response against therapeutic factor VIII].

Med Sci (Paris) 2020 Apr 1;36(4):341-347. Epub 2020 May 1.

Centre de recherche des Cordeliers, Inserm, Sorbonne Université, Université de Paris, F-75006, Paris, France.

The use of therapeutic proteins induces in some patients the appearance of neutralizing antibodies. This is the case of pro-coagulant factor VIII (FVIII) used in patients with hemophilia A. Several parameters related to the protein itself, to the type of pathology or to the patients, condition the immunogenicity of a therapeutic protein. Read More

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http://dx.doi.org/10.1051/medsci/2020060DOI Listing

Heavy menstrual bleeding in women with inherited bleeding disorders.

Haemophilia 2020 Apr;26 Suppl 3:16-19

Royal Free NHS foundation Trust and institute of women's Health, UCL, London, UK.

Heavy menstrual bleeding (HMB) is the commonest bleeding symptom among women with inherited bleeding disorders (IBD). Since HMB starts at the very onset of menarche and continues throughout the reproductive life, the health related quality of life of these women is affected and they are at an increased risk of developing iron-deficiency anemia. Because of the entrenched stigma and taboos, women and girls are often reluctant to discuss the problem of HMB within their families and do not seek medical advice. Read More

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http://dx.doi.org/10.1111/hae.13888DOI Listing

Low-dose surgical prophylaxis: Optimization of use of World Federation of Hemophilia Humanitarian Aid donated clotting factor concentrates to developing countries.

Haemophilia 2020 Apr;26 Suppl 3:11-15

World Federation of Hemophilia, Montreal, QC, Canada.

Background: Patients with hemophilia (PWH) might need surgical interventions during the course of their lives. Such medical interventions pose hemostatic challenges and requests infusion of clotting factor concentrates (CFCs) during peri and postoperative for variable periods to prevent bleeding and until complete wound healing. Access to CFCs to PWH living in resource limited settings is usually a challenge which makes surgical interventions either risky or not practical. Read More

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http://dx.doi.org/10.1111/hae.13921DOI Listing

The Immune Response to the fVIII Gene Therapy in Preclinical Models.

Front Immunol 2020 15;11:494. Epub 2020 Apr 15.

Cell and Gene Therapy Program, Department of Pediatrics, Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Emory University, Atlanta, GA, United States.

Neutralizing antibodies to factor VIII (fVIII), referred to as "inhibitors," remain the most challenging complication post-fVIII replacement therapy. Preclinical development of novel fVIII products involves studies incorporating hemophilia A (HA) and wild-type animal models. Though immunogenicity is a critical aspect of preclinical pharmacology studies, gene therapy studies tend to focus on fVIII expression levels without major consideration for immunogenicity. Read More

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http://dx.doi.org/10.3389/fimmu.2020.00494DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7174743PMC

Atypical transient perivascular inflammation of the carotid artery (TIPIC) in a previously diagnosed VWD type 2 M.

Haemophilia 2020 Apr 29. Epub 2020 Apr 29.

UPRES EA2992 "Caractéristiques Féminines des Dysfonctions des Interfaces Vasculaires", University of Montpellier, Montpellier, France.

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http://dx.doi.org/10.1111/hae.14021DOI Listing

Utility of Blood Cultures and Empiric Antibiotics in Febrile Pediatric Hemophilia Patients With Central Venous Access Devices.

Pediatr Emerg Care 2020 Apr 28. Epub 2020 Apr 28.

Harvard Medical School.

Background: Children with hemophilia frequently require long-term central venous access devices (CVADs) for regular infusion of factor products. Hemophilia patients are not immunocompromised, but the presence and use of CVADs are associated with infections including bacteremia. Currently, the utility of blood cultures in evaluation of the febrile hemophilia patient with an indwelling CVAD is unknown, nor is optimal empiric antibiotic use. Read More

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http://dx.doi.org/10.1097/PEC.0000000000002106DOI Listing

The EAHAD blood coagulation factor VII variant database.

Hum Mutat 2020 Jul 29;41(7):1209-1219. Epub 2020 Apr 29.

Department of Biochemical Sciences, School of Biosciences and Medicine, University of Surrey, Guildford, UK.

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7). Integration of genetic variation with functional consequences on protein function is essential for the interpretation of the pathogenicity of novel variants. Here, we describe the integration of previous locus-specific databases for F7 into a single curated database with enhanced features. Read More

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http://dx.doi.org/10.1002/humu.24025DOI Listing

Occurrence rates of haemophilia among males in the United States based on surveillance conducted in specialized haemophilia treatment centres.

Haemophilia 2020 May 24;26(3):487-493. Epub 2020 Apr 24.

Division of Hematology, University of Colorado School of Medicine, Aurora, CO, USA.

Introduction: Estimates of the size and characteristics of the US haemophilia population are needed for healthcare planning and resource needs assessment. A network of comprehensive haemophilia treatment centres (HTCs) located throughout the United States receives federal support for diagnosis and management of haemophilia and other rare bleeding disorders.

Aim: Estimate the incidence and prevalence of haemophilia among US males using the HTC network. Read More

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http://dx.doi.org/10.1111/hae.13998DOI Listing

Fibrinolytic abnormalities in acute respiratory distress syndrome (ARDS) and versatility of thrombolytic drugs to treat COVID-19.

J Thromb Haemost 2020 Jul 3;18(7):1548-1555. Epub 2020 Jun 3.

Aberdeen Cardiovascular & Diabetes Centre, School of Medicine, Medical Sciences and Nutrition, Aberdeen, UK.

The global pandemic of coronavirus disease 2019 (COVID-19) is associated with the development of acute respiratory distress syndrome (ARDS), which requires ventilation in critically ill patients. The pathophysiology of ARDS results from acute inflammation within the alveolar space and prevention of normal gas exchange. The increase in proinflammatory cytokines within the lung leads to recruitment of leukocytes, further propagating the local inflammatory response. Read More

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http://dx.doi.org/10.1111/jth.14872DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264738PMC

Hypercoagulability of COVID-19 patients in intensive care unit: A report of thromboelastography findings and other parameters of hemostasis.

J Thromb Haemost 2020 07 24;18(7):1738-1742. Epub 2020 Jun 24.

Fondazione IRCCS Ca' Granda Ospedale Maggiore, Angelo Bianchi Bonomi Hemophilia and Thrombosis Center and Fondazione Luigi Villa, Milano, Italy.

Background: The severe inflammatory state secondary to COVID-19 leads to a severe derangement of hemostasis that has been recently described as a state of disseminated intravascular coagulation (DIC) and consumption coagulopathy, defined as decreased platelet count, increased fibrin(ogen) degradation products such as D-dimer, as well as low fibrinogen.

Aims: Whole blood from 24 patients admitted at the intensive care unit because of COVID-19 was collected and evaluated with thromboelastography by the TEG point-of-care device on a single occasion and six underwent repeated measurements on two consecutive days for a total of 30 observations. Plasma was evaluated for the other parameters of hemostasis. Read More

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http://dx.doi.org/10.1111/jth.14850DOI Listing

In vivo fluorescence molecular tomography of induced haemarthrosis in haemophilic mice: link between bleeding characteristics and development of bone pathology.

BMC Musculoskelet Disord 2020 Apr 14;21(1):241. Epub 2020 Apr 14.

Global Drug Discovery, Novo Nordisk A/S, Novo Nordisk Park 1, 2760, Maaloev, Denmark.

Background: Haemophilic arthropathy is a chronic and debilitating joint disease caused by recurrent spontaneous joint bleeds in patients with haemophilia. Understanding how characteristics of individual joint bleeds relate to the subsequent development of arthropathy could improve management and prevention of this joint disease. Here, we aimed to explore relations between joint bleed characteristics and development of bone pathology in a mouse model of haemophilic arthropathy by using novel in vivo imaging methodology. Read More

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http://dx.doi.org/10.1186/s12891-020-03267-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7158129PMC

A Unique Presentation of Spontaneous Compartment Syndrome due to Acquired Hemophilia A and Associated Malignancy: Case Report and Literature Review.

World J Oncol 2020 Apr 29;11(2):72-75. Epub 2020 Mar 29.

Department of Medicine, Jersey Shore University Medical Center, Hackensack Meridian Health, Neptune, NJ 07753, USA.

Hemophilia is a bleeding diathesis that is most commonly congenital and causes a tendency for significant bleeding during procedures and often manifests as hemarthrosis. However, more rarely, hemophilia can be acquired. Our paper focuses on acquired hemophilia A (AHA), which is caused by the development of an autoantibody (an inhibitor) to factor VIII. Read More

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http://dx.doi.org/10.14740/wjon1260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141160PMC

Deep Brain Stimulation Surgery for Essential Tremor in a Patient with Type A Hemophilia.

World Neurosurg 2020 Apr 10;139:158-162. Epub 2020 Apr 10.

Department of Neurosurgery, University of Arizona College of Medicine, Tucson, Arizona, USA. Electronic address:

Background: Hemophilia is generally considered a contraindication to deep brain stimulation (DBS) and other elective intracranial surgery because of the elevated risk of perioperative hemorrhage. Two prior case reports have suggested, however, that DBS may be safe in patients with hemophilia who undergo appropriate factor replacement. Here, we describe a third case of DBS surgery for medically refractory essential tremor (ET) in a patient with hemophilia A. Read More

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http://dx.doi.org/10.1016/j.wneu.2020.03.174DOI Listing

Pathological mechanism and antisense oligonucleotide-mediated rescue of a non-coding variant suppressing factor 9 RNA biogenesis leading to hemophilia B.

PLoS Genet 2020 04 8;16(4):e1008690. Epub 2020 Apr 8.

Institute of Virology, Hannover Medical School, Hannover, Germany.

Loss-of-function mutations in the human coagulation factor 9 (F9) gene lead to hemophilia B. Here, we dissected the consequences and the pathomechanism of a non-coding mutation (c.2545A>G) in the F9 3' untranslated region. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141619PMC

Site-Directed Mutagenesis Improves the Transduction Efficiency of Capsid Library-Derived Recombinant AAV Vectors.

Mol Ther Methods Clin Dev 2020 Jun 13;17:545-555. Epub 2020 Mar 13.

State Key Laboratory of Genetic Engineering, School of Life Sciences, Zhongshan Hospital, Fudan University, Shanghai 200438, China.

Recombinant adeno-associated virus (rAAV) vectors selected from capsid libraries present enormous advantages in high selectivity of tissue tropism and their potential use in human gene therapy applications. For example, rAAV-LK03, was used in a gene therapy trial for hemophilia A (ClinicalTrials.gov: NCT03003533). Read More

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http://dx.doi.org/10.1016/j.omtm.2020.03.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7114622PMC

Hemophilia A and von Willebrand deficiency: therapeutic implications.

Blood Coagul Fibrinolysis 2020 Mar 13. Epub 2020 Mar 13.

Servizio di Malattie Emorragiche e Trombotiche, Area di Ematologia.

: Hemophilia A is an X-linked bleeding disorder caused by a deficiency of factor VIII. Depending on the factor VIII activity in patient's plasma, we can have three different forms of hemophilia A: mild (5-40 IU/dl), moderate (1-5 IU/dl) and severe (<1 IU/dl). The most common symptoms include recurrent bleeding episodes of soft tissues and joints. Read More

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http://dx.doi.org/10.1097/MBC.0000000000000908DOI Listing

Acquired Hemophilia A, Hemolytic Anemia, Type 1 Diabetes Mellitus, and Autoimmune Hypothyroidism in a Systemic Lupus Erythematosus Patient.

J Clin Rheumatol 2020 Apr 2. Epub 2020 Apr 2.

Rheumatology Department, Centro Hospitalar e Universitário de São João, Porto, Portugal Young Adult and Pediatric Rheumatology, Unit / Centro Hospitalar e Universitário, do Hospital de São João, Porto, Portugal Rheumatology Department, Centro Hospitalar e Universitário de São João, Porto, Portugal.

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http://dx.doi.org/10.1097/RHU.0000000000001383DOI Listing

Functional identification of factor VIII B domain regions in hepatocyte cells.

Biochem Biophys Res Commun 2020 Jun 2;526(3):633-640. Epub 2020 Apr 2.

Institute of Molecular Medicine and Oncology, Chongqing Medical University, Chongqing, 400016, China.

Factor VIII (FVIII) functions as a cofactor within the intrinsic pathway of blood coagulation in process of FX activation by FIXa, for which deficiency results in the bleeding disorder hemophilia A. The gene of FVIII contains 26 exons that code for a 19 amino acid signal peptide and a 2332 amino acid polypeptide with a domain structure designated A1-A2-B-A3-C1-C2, of which the A domains are homologous with each other, as are the C domains. It has been well-documented that both the domains are the necessary elements for FVIII activities. Read More

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http://dx.doi.org/10.1016/j.bbrc.2020.03.132DOI Listing

Sports participation and sports injuries in Dutch boys with haemophilia.

Scand J Med Sci Sports 2020 Jul 16;30(7):1256-1264. Epub 2020 Apr 16.

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

Introduction: Sports participation in children with hemophilia is generally considered to be associated with increased injury risk, which is generally considered highest in severe hemophilia.

Aim: To assess sports participation according to age and severity in children with hemophilia and its association with sports injuries.

Methods: In a retrospective single-center study, sports participation, injuries, and bleeding data from three consecutive annual clinic visits were collected for young patients with hemophilia (PWH, aged 6-18). Read More

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http://dx.doi.org/10.1111/sms.13666DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7317861PMC

Recent Partner Violence, Sexual Relationship Power, and STIs among Women Who Use Methamphetamine: Does Type of Sexual Partner Matter?

J Urban Health 2020 Jun;97(3):387-394

Department of Psychiatry, School of Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA, 92093, USA.

Methamphetamine use, sexual relationship power (SRP), and partner violence (PV) are associated with increased risk of sexually transmitted infections (STIs) among women. The objective of our study was to examine the association of recent PV and SRP on STIs by partner type among HIV-negative, heterosexual women who use methamphetamine in San Diego, CA. Using baseline survey data from 209 women enrolled in FASTLANE II, an HIV behavioral intervention trial, we conducted logistic regression analyses to examine associations between PV, SRP, and self-reported lifetime STIs (e. Read More

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http://dx.doi.org/10.1007/s11524-020-00435-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305268PMC

Proteoglycan synthesis rate as a novel method to measure blood-induced cartilage degeneration in non-haemophilic and haemophilic rats.

Haemophilia 2020 May 25;26(3):e88-e96. Epub 2020 Mar 25.

Department of Rheumatology & Clinical Immunology, University Medical Center (UMC) Utrecht, Utrecht University, Utrecht, The Netherlands.

Introduction: Haemophilic animal models are used to study blood-induced cartilage damage, but quantitative and sensitive outcome measures are needed.

Aim: To develop a novel quantitative method for detecting early cartilage degeneration in a haemophilic rat model of blood-induced joint damage.

Methods: The Sulphate incorporation ( SO assay) was applied to tibial and patellar cartilage of wild-type rats to quantify baseline proteoglycan synthesis and to evaluate the effect of 4-day blood exposure in vitro. Read More

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http://dx.doi.org/10.1111/hae.13969DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318356PMC

Product type and the risk of inhibitor development in nonsevere haemophilia A patients: a case-control study.

Br J Haematol 2020 Jun 22;189(6):1182-1191. Epub 2020 Mar 22.

Department of Pediatric Hematology, Immunology and Infectious Diseases, Emma Children's Hospital, Academic Medical Center, Amsterdam, the Netherlands.

Inhibitor development is a major complication of treatment with factor VIII concentrates in nonsevere haemophilia A. It has been suggested that plasma-derived factor VIII (FVIII) concentrates elicit fewer inhibitors than recombinant FVIII concentrates, but studies in severe haemophilia A patients have shown conflicting results. We designed a case-control study to investigate the clinical and genetic risk factors for inhibitor development in nonsevere haemophilia A patients. Read More

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http://dx.doi.org/10.1111/bjh.16490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318706PMC

Psychological interventions for people with hemophilia.

Cochrane Database Syst Rev 2020 03 18;3:CD010215. Epub 2020 Mar 18.

McMaster University, Department of Health Research Methods, Evidence and Impact (HEI), 1280 Main Street West, CRL - 140, Hamilton, ON, Canada, L8S 4K1.

Background: Managing hemophilia is challenging both in terms of medical treatment and its broad impact on many aspects of the individual's life, including self-perception. Several psychosocial issues are potentially relevant in the clinical management of hemophilia, including it being a chronic and incurable condition; e.g. Read More

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http://dx.doi.org/10.1002/14651858.CD010215.pub2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7080553PMC

Discovery of Type 3 von Willebrand Disease in a Cohort of Patients with Suspected Hemophilia A in Côte d'Ivoire.

Mediterr J Hematol Infect Dis 2020 1;12(1):e2020019. Epub 2020 Mar 1.

Department of Hematology, Faculty of Pharmacy, Felix Houphouet Boigny University, Abidjan, Côte d'Ivoire.

Background: Type 3 von Willebrand disease (VWD) is the most severe form of VWD, characterized by a near-total absence of von Willebrand factor (vWF), leading to a massive deficiency in plasmatic factor VIII (FVIII). VWD may be confused with hemophilia A, sometimes leading to misdiagnosis. The purpose of this work was to finalize the biological diagnosis of patients with FVIII activity deficiency in Abidjan in order to guide the best type of management. Read More

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http://dx.doi.org/10.4084/MJHID.2020.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7059751PMC

Robotic mitral valve repair in a type B hemophiliac.

J Card Surg 2020 May 16;35(5):1129-1131. Epub 2020 Mar 16.

Department of Cardiovascular Surgery, The University of Alabama at Birmingham, Birmingham, Alabama.

Hemophilia B is a rare X-linked recessive disorder that places surgical patients at an increased risk of bleeding. Patients with hemophilia are now achieving near-normal life expectancies and therefore the number of these patients requiring cardiac surgery due to the development of age-related cardiovascular disease may increase. We present the case of a young male with hemophilia B who was diagnosed with severe symptomatic mitral regurgitation and underwent successful robotic mitral valve repair. Read More

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http://dx.doi.org/10.1111/jocs.14518DOI Listing

Validation of the Angioedema Control Test (AECT)-A Patient-Reported Outcome Instrument for Assessing Angioedema Control.

J Allergy Clin Immunol Pract 2020 Jun 12;8(6):2050-2057.e4. Epub 2020 Mar 12.

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

Background: Recurrent angioedema (RA) is an important clinical problem in routine care and emergency medicine. As of recently, the only validated tools to specifically assess disease status in patients with RA were diary-type activity assessments and angioedema-related quality-of-life questionnaires. Although these tools are particularly helpful in clinical studies, they were not designed to determine disease control or to guide treatment decisions. Read More

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http://dx.doi.org/10.1016/j.jaip.2020.02.038DOI Listing

Comparative assessment of von Willebrand factor multimers vs activity for von Willebrand disease using modern contemporary methodologies.

Haemophilia 2020 May 11;26(3):503-512. Epub 2020 Mar 11.

Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), NSW Health Pathology, Westmead Hospital, Westmead, NSW, Australia.

Introduction: Diagnosis of von Willebrand disease (VWD) is challenging due to heterogeneity of VWD and test limitations. Many von Willebrand factor (VWF) assays are utilized, including antigen (Ag), activity and multimer analysis. Activity assays include ristocetin cofactor using platelets (VWF:RCo) or other particles incorporating recombinant glycoprotein I ('VWF:GPIbR'), or other GPI binding assays using gain-of-function mutations ('VWF:GPIbM'), or collagen binding (VWF:CB). Read More

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http://dx.doi.org/10.1111/hae.13957DOI Listing

Low Dose Prophylaxis in Hemophilia Care.

Indian J Hematol Blood Transfus 2020 Jan 15;36(1):16-25. Epub 2019 Jun 15.

2Department of Health Sciences Research, Amrita Institute of Medical Sciences, Kochi, India.

Hemophilia is an inherited bleeding disorder which causes impaired blood clotting. The severity of disease depends on the type of Hemophilia, level of clotting factor concentrate (CFC), phenotypic heterogeneity and the development of inhibitors. The currently accepted standard of care of this disease is prophylaxis therapy (PT) with CFC. Read More

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http://dx.doi.org/10.1007/s12288-019-01147-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7042432PMC
January 2020

'DO NOT DO' RECOMMENDATIONS IN HEMOPHILIA.

Cardiovasc Hematol Disord Drug Targets 2020 Mar 4. Epub 2020 Mar 4.

La Paz University Hospital, Madrid, Physical Medicine and Rehabilitation. Spain.

Background: It is important to discard those practices that do not add value. As a result, several initiatives have emerged. All of them try to improve patient safety and the use of health resources. Read More

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http://dx.doi.org/10.2174/1871529X20666200305111323DOI Listing