keyword
MENU ▼
Read by QxMD icon Read
search

Haemophilia

keyword
https://www.readbyqxmd.com/read/29777571/optimization-of-pre-analytical-heat-treatment-for-inhibitor-detection-in-haemophilia-a
#1
P Batty, D P Hart, S Platton
INTRODUCTION: Factor VIII (FVIII) antibody formation is the greatest clinical and laboratory challenge within the haemophilia centre. The Nijmegen-Bethesda assay (NBA) is the gold standard for inhibitor quantification, but affected by pre-analytical variables including a patient's FVIII activity (FVIII:C). Pre-analytical heat treatment (PHT) provides a methodology for inhibitor testing when measurable FVIII:C is present. METHODS: We evaluated the effect of different PHT conditions (time/temperature) on FVIII:C as well as on potency of inhibitory activity in samples containing FVIII:C (endogenous pooled plasma and exogenous recombinant FVIII (rFL-FVIII) concentrate) or FVIII inhibitor...
May 18, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29774585/a-mild-form-of-haemophilia-a-is-associated-with-two-factor-viii-missense-mutations-in-german-fleckvieh-cattle
#2
Sina Reinartz, Christine Weiß, Reinhard Mischke, Ottmar Distl
No abstract text is available yet for this article.
May 18, 2018: Animal Genetics
https://www.readbyqxmd.com/read/29773916/the-haemophilia-drug-market
#3
Kerri Brown, Graeme Green
No abstract text is available yet for this article.
May 18, 2018: Nature Reviews. Drug Discovery
https://www.readbyqxmd.com/read/29758126/abrogating-fibrinolysis-does-not-improve-bleeding-or-rfviia-rfviii-treatment-in-a-non-mucosal-venous-injury-model-in-haemophilic-rodents
#4
Rikke Stagaard, Matthew J Flick, Barbara Bojko, Krzysztof Goryński, Paulina Z Goryńska, Carsten D Ley, Lisbeth H Olsen, Tom Knudsen
BACKGROUND: Fibrinolysis may exacerbate bleeding in haemophilia A (HA). Accordingly, antifibrinolytics have been used to help maintain haemostatic control. While antifibrinolytic drugs have been proven effective in the treatment of mucosal bleeds in the oral cavity, their efficacy in non-mucosal tissues remain an open question of significant clinical interest. OBJECTIVE: To determine whether inhibiting fibrinolysis improves the outcome in non-mucosal haemophilic tail vein transection (TVT) bleeding models, and to determine whether a standard ex vivo clotting/fibrinolysis assay can be used as a predictive surrogate for in vivo efficacy...
May 14, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29741299/methodologies-for-data-collection-in-congenital-haemophilia-with-inhibitors-chwi-critical-assessment-of-the-literature-and-lessons-learned-from-recombinant-factor-viia
#5
REVIEW
C M Kessler, S Benchikh El Fegoun, A Worster
AIMS: To systematically review the effectiveness of on-demand treatment with recombinant coagulation factor VIIa (rFVIIa) in congenital haemophilia with inhibitors and, if feasible, perform a meta-analysis of the data. MATERIALS AND METHODS: Publications from Embase® , MEDLINE® , MEDLINE® In-Process and the Cochrane Central Register of Controlled Trials were searched. Selected publications were reviewed for inclusion by two independent expert reviewers. Discrepancies were reconciled by a third independent reviewer...
May 9, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29737459/safety-of-intra-articular-transplantation-of-lentivirally-transduced-mesenchymal-stromal-cells-for-haemophilic-arthropathy-in-a-non-human-primate
#6
Tsukasa Ohmori, Hiroaki Mizukami, Yuko Katakai, Sho Kawai, Hitoyasu Nakamura, Makoto Inoue, Tsugumine Shu, Hideharu Sugimoto, Yoichi Sakata
Joint bleeding and resultant arthropathy are major determinants of quality of life in haemophilia patients. We previously developed a mesenchymal stromal cell (MSC)-based treatment approach for haemophilic arthropathy in a mouse model of haemophilia A. Here, we evaluated the long-term safety of intra-articular injection of lentivirally transduced autologous MSCs in non-human primates. Autologous bone-marrow-derived MSCs transduced with a lentiviral vector expressing coagulation factor VIII (FVIII) were injected into the left knee joint of cynomolgus monkeys...
May 8, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29732648/the-multiple-benefits-of-sport-in-haemophilia
#7
A Farrugia, A Gringeri, S von Mackensen
No abstract text is available yet for this article.
May 6, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29731369/tailored-frequency-escalated-primary-prophylaxis-for-severe-haemophilia-a-results-of-the-16-year-canadian-hemophilia-prophylaxis-study-longitudinal-cohort
#8
Brian M Feldman, Georges E Rivard, Paul Babyn, John K M Wu, MacGregor Steele, Man-Chiu Poon, Robert T Card, Sara J Israels, Nicole Laferriere, Kulwant Gill, Anthony K Chan, Manuel Carcao, Robert J Klaassen, Stephanie Cloutier, Victoria E Price, Saunya Dover, Victor S Blanchette
BACKGROUND: Severe haemophilia A has high morbidity, and treatment, while effective, is very expensive. We report the 16-year follow-up of the Canadian Hemophilia Prophylaxis Study, which examined the effectiveness of tailored frequency-escalated primary prophylaxis with a focus on health outcomes within the domains of body structures and functions, and activities and participation (according to the WHO International Classification of Functioning, Disability and Health [WHO-ICF] framework) and a view to reducing consumption of costly clotting factor, which accounts for more than 90% of the cost of care of severe haemophilia...
May 3, 2018: Lancet Haematology
https://www.readbyqxmd.com/read/29724628/the-rare-coexistence-of-high-titer-inhibitor-development-and-gastrointestinal-stromal-tumor-in-a-patient-with-severe-hemophilia-a-case-report
#9
Abdulkerim Yıldız, Osman Şahin, Okan Yayar, Çiğdem Pala Öztürk, Hacer Berna Afacan Öztürk, Senem Maral, Harika Okutan, Murat Albayrak
Hemophilia is a hereditary disease with impaired blood coagulation due to a genetic deficiency of blood coagulation factors. The development of inhibitors further complicates the course of the disease and management. The case is here reported of a haemophilia patient who presented with coexisting development of high titer inhibitor with Gastrointestinal Stromal Tumor (GIST) diagnosis and was admitted with upper gastrointestinal system bleeding. The patient had no prior history of inhibitor presence. During all procedures including surgery, excellent hemostasis was achieved with rFVIIa treatment and no hemorrhagic complication was observed...
April 26, 2018: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/29720192/the-impact-of-severe-haemophilia-and-the-presence-of-target-joints-on-health-related-quality-of-life
#10
Jamie O'Hara, Shaun Walsh, Charlotte Camp, Giuseppe Mazza, Liz Carroll, Christina Hoxer, Lars Wilkinson
BACKGROUND: Joint damage remains a major complication associated with haemophilia and is widely accepted as one of the most debilitating symptoms for persons with severe haemophilia. The aim of this study is to describe how complications of haemophilia such as target joints influence health-related quality of life (HRQOL). METHODS: Data on hemophilia patients without inhibitors were drawn from the 'Cost of Haemophilia across Europe - a Socioeconomic Survey' (CHESS) study, a cost-of-illness assessment in severe haemophilia A and B across five European countries (France, Germany, Italy, Spain, and the UK)...
May 2, 2018: Health and Quality of Life Outcomes
https://www.readbyqxmd.com/read/29707874/total-elbow-arthroplasty-in-haemophilia
#11
REVIEW
T M Dale, J M Saucedo, E C Rodriguez-Merchan
INTRODUCTION: Advanced haemophilic arthropathy of the elbow can be a devastating manifestation of severe haemophilia with significant implications for activities of daily living. AIM: To summarize the currently available data on total elbow arthroplasty (TEA) for haemophilic arthropathy of the elbow, to draw comparisons to TEA for other indications, and to outline some considerations regarding TEA in this unique population. METHODS: A narrative review of the literature has been performed...
April 30, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29707861/perioperative-replacement-therapy-in-haemophilia-b-an-appeal-to-b-more-precise
#12
H C A M Hazendonk, T Preijers, R Liesner, P Chowdary, D Hart, D Keeling, M H E Driessens, B A P Laros-van Gorkom, F J M van der Meer, K Meijer, K Fijnvandraat, F W G Leebeek, R A A Mathôt, P W Collins, M H Cnossen
INTRODUCTION: Haemophilia B is caused by a deficiency of coagulation factor IX (FIX) and characterized by bleeding in muscles and joints. In the perioperative setting, patients are treated with FIX replacement therapy to secure haemostasis. Targeting of specified FIX levels is challenging and requires frequent monitoring and adjustment of therapy. AIM: To evaluate perioperative management in haemophilia B, including monitoring of FIX infusions and observed FIX levels, whereby predictors of low and high FIX levels were assessed...
April 29, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29703220/european-principles-of-inhibitor-management-in-patients-with-haemophilia
#13
P L F Giangrande, C Hermans, B O'Mahony, P de Kleijn, M Bedford, A Batorova, J Blatný, K Jansone
BACKGROUND: In spite of recent major advances in the understanding and treatment of inhibitor development in patients with haemophilia, multidisciplinary management of many of these patients remains suboptimal and highly heterogenous across Europe. METHODS: Following a series of multidisciplinary meetings and a review of the literature, the European haemophilia community of health professionals and patients jointly defined practical optimum standards for ensuring and harmonizing treatment and care for patients with an inhibitor...
April 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29682884/durable-engraftment-of-genetically-modified-fviii-secreting-autologous-bone-marrow-stromal-cells-in-the-intramedullary-microenvironment
#14
Sze Sing Lee, Jaichandran Sivalingam, Ajit J Nirmal, Wai Har Ng, Irene Kee, In Chin Song, Chin Yong Kiong, Kristoffer A Gales, Frederic Chua, Edgar M Pena, Bryan E Ogden, Oi Lian Kon
Genetically modified FVIII-expressing autologous bone marrow-derived mesenchymal stromal cells (BMSCs) could cure haemophilia A. However, culture-expanded BMSCs engraft poorly in extramedullary sites. Here, we compared the intramedullary cavity, skeletal muscle, subcutaneous tissue and systemic circulation as tissue microenvironments that could support durable engraftment of FVIII-secreting BMSC in vivo. A zinc finger nuclease integrated human FVIII transgene into PPP1R12C (intron 1) of culture-expanded primary canine BMSCs...
April 23, 2018: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29673013/postural-control-during-a-transition-task-in-haemophilic-children-adolescents-and-young-adults-with-haemophilic-ankle-arthropathy
#15
K Deschamps, F Staes, M Eerdekens, K Peerlinck, C Hermans, J Vandesande, S Lobet
BACKGROUND: The aim of this study was to determine whether young haemophilic boys with and without MRI-based signs of ankle arthropathy demonstrate reduced balance ability during a transition task with eyes open and eyes closed. METHODS: Thirty-four haemophilic bodies and 28 typically developing boys aged 6-20 years participated to this study. Structural integrity of the tarsal foot joints of all haemophilic boys was assessed with MRI. All participants performed a standard transition task from double-leg stance to single-leg stance with eyes open and eyes closed...
April 19, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29665204/factor-viii-products-and-inhibitor-development-in-previously-treated-patients-with-severe-or-moderately-severe-haemophilia-a-a-systematic-review
#16
Shermarke Hassan, Antonino Cannavò, Samantha Gouw, Frits R Rosendaal, Johanna van der Bom
BACKGROUND: Patients with severe haemophilia A who have been treated extensively with factor VIII (FVIII) products face a low but potentially serious risk of inhibitor development. It is unknown why these patients break immunological tolerance and data on product-related immunogenicity is scarce. AIMS: To summarize the currently available evidence on the relationship between inhibitor development and recombinant FVIII product type in previously treated patients with severe haemophilia A...
April 17, 2018: Journal of Thrombosis and Haemostasis: JTH
https://www.readbyqxmd.com/read/29665138/haemophilia-commentary-the-utility-of-bats
#17
M Sholzberg
No abstract text is available yet for this article.
April 17, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29656491/recurrent-f8-and-f9-gene-variants-result-from-a-founder-effect-in-two-large-french-haemophilia-cohorts
#18
F Lassalle, O Marmontel, C Zawadzki, M Fretigny, P Bouvagnet, C Vinciguerra
INTRODUCTION: Haemophilia A (HA) and haemophilia B (HB) are X-linked recessive diseases, caused by a large number of pathogenic variants in the F8 and F9 genes. With the exception of introns 22 and 1 inversions which are frequent in severe HA cases, about 2000 unique variants in F8 and 1000 in F9 have been described in databases and their recurrence remains limited. AIM AND METHODS: During routine analysis, we identified two recurrent missense variants, the F8 gene c...
April 14, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29656466/evaluation-of-high-fat-high-fructose-diet-treatment-in-factor-viii-coagulation-factor-deficient-mouse-model
#19
Alaknanda Mishra, Shailendra Arindkar, Preeti Sahay, Jerald Mahesh Kumar, Pramod K Upadhyay, Subeer S Majumdar, Perumal Nagarajan
Non-alcoholic fatty liver disease (NAFLD)-like conditions enhance the production and action of clotting factors in humans. However, studies examining the effect of NAFLD due to high-fat high-fructose (HFHF) diet in factor VIII-deficient (haemophilia A) animals or patients have not been reported previously. In this study, we investigated the individual role of factor VIII in the progression of diet-induced NAFLD in the factor 8-/- (F8-/- ) mouse model system and its consequences on the haemophilic status of the mice...
April 15, 2018: International Journal of Experimental Pathology
https://www.readbyqxmd.com/read/29652676/immune-tolerance-induction-rescue-with-turoctocog-alfa-in-a-poor-risk-haemophilia-a-inhibitor-young-child-the-history-of-a-success
#20
Ezio Zanon, Marta Milan, Samantha Pasca
: The development of alloantibodies against the replacement of Factor VIII (FVIII) is the major complication in haemophilia A treatment. The gold standard to eradicate inhibitors is the immune tolerance induction (ITI), but in some cases it fails requiring another immune tolerance, defined ITI rescue (ITI-R), using a different concentrate, even though it is still debated. We report a successful case of a poor risk (titre of inhibitor at start of ITI > 10 BU/ml, peak titre on ITI > 200 BU/ml, >2 years since the inhibitor diagnosis) haemophilia A child treated with a high-dose regimen (200 UI/kg/day) turoctocog-alfa after a failed first-line ITI with octocog-alfa lasting 29 months...
April 12, 2018: Blood Coagulation & Fibrinolysis: An International Journal in Haemostasis and Thrombosis
keyword
keyword
4856
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"