journal
MENU ▼
Read by QxMD icon Read
search

Haemophilia: the Official Journal of the World Federation of Hemophilia

journal
https://www.readbyqxmd.com/read/28205396/can-the-diagnostic-reliability-of-the-thrombin-generation-test-as-a-global-haemostasis-assay-be-improved-the-impact-of-calcium-chloride-concentration
#1
L A Parunov, S S Surov, Y Liang, T K Lee, M V Ovanesov
BACKGROUND: Thrombin generation test (TGT) is a global haemostasis assay with a potential to predict bleeding tendencies and treatment effects in patients with haemophilia. Despite 15 years of clinical research, the diagnostic value of TGT remains controversial, possibly due to suboptimal sensitivity to coagulation deficiencies, robustness and reproducibility. OBJECTIVE: The goal of this study was to explore the effect of calcium chloride (CaCl2 ) concentration on the TGT's response to intrinsic coagulation factors (F) VIII, IX and XIa...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28205367/multiplex-ligation-dependent-probe-amplification-as-first-mutation-screening-for-large-deletions-and-duplications-in-haemophilia
#2
D Belvini, R Salviato, P Radossi, G Tagariello
INTRODUCTION: Molecular characterization has shown a wide mutational spectrum underlying haemophilia A (HA) and haemophilia B (HB). Different molecular assays have allowed laboratories to perform genetic testing for F8 and F9 mutations. AIM: Recently, multiplex ligation-dependent probe amplification (MLPA), a simple technique for relative quantitation of targeted genomic regions, has been introduced in HA and HB for detection of large deletions and duplications...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28205285/natural-history-and-clinical-characteristics-of-inhibitors-in-previously-treated-haemophilia-a-patients-a-case-series
#3
A Iorio, A M Barbara, M Makris, K Fischer, G Castaman, C Catarino, E Gilman, K Kavakli, T Lambert, R Lassila, T Lissitchkov, E Mauser-Bunschoten, M E Mingot-Castellano, N Ozdemir, I Pabinger, R Parra, J Pasi, K Peerlinck, A Rauch, V Roussel-Robert, M Serban, A Tagliaferri, J Windyga, E Zanon
BACKGROUND: Development of inhibitors is the most serious complication in haemophilia A treatment. The assessment of risk for inhibitor formation in new or modified factor concentrates is traditionally performed in previously treated patients (PTPs). However, evidence on risk factors for and natural history of inhibitors has been generated mostly in previously untreated patients (PUPs). The purpose of this study was to examine cases of de novo inhibitors in PTPs reported in the scientific literature and to the EUropean HAemophilia Safety Surveillance (EUHASS) programme, and explore determinants and course of inhibitor development...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28205277/preliminary-evaluation-of-altered-brain-microstructure-in-the-emotion-cognition-region-in-children-with-haemophilia-a-a-diffusional-kurtosis-imaging-study
#4
D Hu, H Kang, Y Lv, N Zhang, L Tang, J Zhang, K Shi, R Wu, Y Peng
AIM: Using diffusional kurtosis imaging (DKI) to assess the impact of emotional disorders on microstructural changes of the brain in children with haemophilia A. MATERIALS AND METHODS: Diffusional kurtosis imaging was acquired from haemophilia A (n = 22) and controls (n = 22) using a 3T scanner. A regression analysis of frontal, cingulate, hippocampus, insula and amygdala regions of interest (ROIs) was conducted. Clinical data and results of psychological tests were collected...
February 15, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28198071/measuring-fviii-activity-of-glycopegylated-recombinant-factor-viii-n8-gp-with-commercially-available-one-stage-clotting-and-chromogenic-assay-kits-a-two-centre-study
#5
A Hillarp, A Bowyer, M Ezban, P Persson, S Kitchen
INTRODUCTION: Factor VIII activity (FVIII:C) assays of samples containing glycoPEGylated recombinant FVIII such as turoctocog alfa pegol (N8-GP) can be associated with differences in FVIII recovery in vitro between various one-stage activated partial thromboplastin time (APTT)-based clotting assays and some chromogenic assays. Careful validation and qualification of specific assays and conditions is therefore necessary for the assessment of FVIII:C in samples containing modified FVIII molecules...
February 14, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28181369/cost-effectiveness-analysis-of-late-prophylaxis-vs-on-demand-treatment-for-severe-haemophilia-a-in-italy
#6
A Coppola, A D'Ausilio, A Aiello, S Amoresano, M Toumi, P Mathew, A Tagliaferri
INTRODUCTION: Long-term regular administrations of factor VIII (FVIII) concentrate (prophylaxis) initiated at an early age prevents bleeding in patients with severe haemophilia A (HA). The 5-year prospective Italian POTTER study provided evidence of benefits in adolescents and adults of late prophylaxis (LP) vs. on-demand therapy (OD) in reducing bleeding episodes and joint morbidity and improving quality of life; however, costs were increased. AIM: The aim of this study was to determine the cost-effectiveness of LP vs...
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28181366/molecular-phenotype-and-bleeding-risks-of-an-inherited-platelet-disorder-in-a-family-with-a-runx1-frameshift-mutation
#7
M S Badin, J K Iyer, M Chong, L Graf, G E Rivard, J S Waye, A D Paterson, G Pare, C P M Hayward
INTRODUCTION: Inherited defects in RUNX1 are important causes of platelet function disorders. AIM: Our goals were to evaluate RUNX1-related platelet disorders among individuals evaluated for uncharacterized, inherited platelet function disorders and test a proof of concept that bleeding risks could be quantitatively estimated for typical families with an inherited platelet function disorder. METHODS: Index cases with an uncharacterized inherited platelet function disorder were subjected to exome sequencing with confirmation of RUNX1 mutations by Sanger sequencing...
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28181360/screening-of-female-family-members-of-von-willebrand-disease-patients-utility-of-a-modified-screening-tool-in-a-high-risk-population
#8
A S Faiz, A Kaveney, S Guo, S Murphy, C S Philipp
INTRODUCTION: Family members of Von Willebrand disease (VWD) patients may have low levels of VWF without major bleeding episodes and often remain undiagnosed. AIM: The purpose of this study was to assess the utility of a modified Screening Tool in identifying previously untested reproductive age female family members of VWD patients for haemostatic evaluation. METHODS: Ninety-four reproductive age women including 41 previously untested family members of VWD patients, 26 previously diagnosed VWD patients and 27 healthy controls were administered a modified Screening Tool and had blood drawn for CBC, ferritin, and VWF testing...
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28181354/a-difficult-case-of-acquired-haemophilia-with-concomitant-evan-s-syndrome-presenting-with-acute-subdural-haematoma
#9
LETTER
J L J Yek, D Grant, Y K He, H J Ng, T K Tan
No abstract text is available yet for this article.
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28181339/severe-and-late-complication-of-central-venous-catheters-in-a-patient-with-haemophilia-a
#10
LETTER
E O da Silveira, T D da Costa Salina, R D A L Aguiar, A Schriefer, N A Fraiji
No abstract text is available yet for this article.
February 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28155262/comparative-burden-of-arthropathy-in-mild-haemophilia-a-register-based-study-in-sweden
#11
M Osooli, S Lövdahl, K Steen Carlsson, K Knobe, F Baghaei, M Holmström, J Astermark, E Berntorp
INTRODUCTION: Mild haemophilia is a congenital bleeding disorder affecting males. The burden of arthropathy in mild haemophilia has not been comprehensively described. AIM: The aim of this study was to compare the incidence, age at diagnosis and surgery for arthropathy and related hospitalizations between people with mild haemophilia and the general population in Sweden. METHODS: This was a register-based cohort study. Eligible participants were those with mild haemophilia born between 1941 and 2008 and a randomly selected, birthdate and sex-matched comparison group from the general population...
February 2, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28155244/accounting-for-differences-in-healthcare-utilization-and-expenditures-among-us-males-with-haemophilia-by-type-of-health-insurance
#12
LETTER
S Guh, S D Grosse, M Ullman, J M Soucie
No abstract text is available yet for this article.
February 2, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28145076/low-agreement-between-fresh-and-frozen-thawed-platelet-rich-plasma-in-the-calibrated-automated-thrombogram-assay
#13
M Ljungkvist, S Lövdahl, E Zetterberg, E Berntorp
INTRODUCTION: Thrombin generation tests (TGTs) are considered to give more detailed information of the overall coagulation capability of a patient than clotting-based routine assays. The TGT thrombin generation assay-calibrated automated thrombogram (TGA-CAT) uses both platelet-poor plasma (PPP) and platelet-rich plasma (PRP). Assessing PRP gives more physiological test conditions and is of great interest considering the important role platelets play in haemostasis. However, PRP needs to be assessed close after blood draw/preparation as freezing fragments the platelets...
January 31, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28124511/ledipasvir-sofosbuvir-and-sofosbuvir-plus-ribavirin-in-patients-with-chronic-hepatitis-c-and-bleeding-disorders
#14
C E Walsh, K Workowski, N A Terrault, P E Sax, A Cohen, C L Bowlus, A Y Kim, R H Hyland, B Han, J Wang, L M Stamm, D M Brainard, J G McHutchison, A von Drygalski, F Rhame, M W Fried, P Kouides, G Balba, K R Reddy
INTRODUCTION: Chronic hepatitis C virus (HCV) infection is prevalent among patients with inherited bleeding disorders and is a leading cause of mortality in those with haemophilia. AIM: We evaluated the efficacy and safety of ledipasvir-sofosbuvir and sofosbuvir plus ribavirin in patients with chronic HCV genotype 1-4 infection and an inherited bleeding disorder. METHODS: Ledipasvir-sofosbuvir was administered for 12 weeks to patients with genotype 1 or 4 infection and for 12 or 24 weeks to treatment-experienced cirrhotic patients with genotype 1 infection...
January 25, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28124445/measurement-of-b-domain-deleted-refacto-af-activity-with-a-product-specific-standard-is-affected-by-choice-of-reagent-and-patient-specific-factors
#15
M Jacquemin, A Vodolozkaia, J Toelen, J Schoeters, I Van Horenbeeck, I Vanlinthout, M Debasse, K Peerlinck
INTRODUCTION: Postinfusion ReFacto AF levels can be difficult to measure accurately due to discrepancies between one-stage and chromogenic FVIII assays. To overcome this, the use of the ReFacto AF laboratory standard (RAFLS) is recommended, but there are discordant reports regarding its usefulness. AIM: We investigated whether calibration with RAFLS and measurement of ReFacto AF levels are influenced by the choice of reagents and patient-specific factors in one-stage FVIII assays...
January 25, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28124406/recombinant-porcine-factor-viii-for-high-risk-surgery-in-paediatric-congenital-haemophilia-a-with-high-titre-inhibitor
#16
S E Croteau, Y L Abajas, A S Wolberg, B I Nielsen, G R Marx, C W Baird, E J Neufeld, P E Monahan
INTRODUCTION: High-titre factor VIII (FVIII) inhibitors complicate peri-operative haemostasis. Recombinant porcine FVIII (r-pFVIII) may provide an alternative haemostatic agent for high-risk procedures and allow FVIII activity monitoring. AIM: Devise an effective haemostatic plan for repair of a progressively symptomatic aortic coarctation in a 5-year-old male with immune tolerance induction (ITI) refractory high-titre FVIII inhibitors. METHODS: Preprocedure human FVIII inhibitor titre was 58 Bethesda Units mL(-1) (BU) and cross-reacted to neutralize porcine FVIII at 30 BU...
January 25, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28111894/major-bleeding-as-spontaneous-haemoperitoneum-in-a-patient-with-factor-v-deficiency
#17
LETTER
H-W Chen, Y-T Yeh, D-M Tien, C-B Yeh
No abstract text is available yet for this article.
January 22, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28111886/low-dose-factor-viii-infusion-in-chinese-adult-haemophilia-a-patients-pharmacokinetics-evidence-that-daily-infusion-results-in-higher-trough-level-than-with-every-other-day-infusion-with-similar-factor-viii-consumption
#18
B Hua, A Lee, L Fan, K Li, Y Zhang, M-C Poon, Y Zhao
INTRODUCTION: Pharmacokinetics (PK) modelling suggests improvement of trough levels are achieved by using more frequent infusion strategy. However, no clinical study data exists to confirm or quantify improvement in trough level, particularly for low-dose prophylaxis in patients with haemophilia A. AIM: To provide evidence that low dose daily (ED) prophylaxis can increase trough levels without increasing FVIII consumption compared to every-other-day (EOD) infusion...
January 22, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28111847/making-economic-evaluations-more-helpful-for-treatment-choices-in-haemophilia
#19
REVIEW
M Drummond, N Houwing, U Slothuus, P Giangrande
AIM: Poorly conducted economic evaluations have the potential to mislead both clinicians, leading to inappropriate treatment choices, and payers who must decide on the reimbursement of treatment costs. This paper reviews the methods used in economic evaluations in haemophilia and proposes standards for conducting and reporting such evaluations in the future. METHODS: A systematic review of economic evaluations in haemophilia published since 2008 was conducted. The reporting and methods of the studies were assessed using the recently published Consolidated Health Economic Evaluation Reporting Guidelines (CHEERS) checklist...
January 22, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28111845/radionuclide-synovectomy-in-patients-with-bleeding-disorders-a-review-of-malignancy-and-myeloproliferative-neoplasms-from-the-athndataset
#20
LETTER
M Y Lim, D Cheng, D Aschman, A Dunn
No abstract text is available yet for this article.
January 22, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
journal
journal
32138
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"