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4 papers 0 to 25 followers
By Ye Lu
https://www.readbyqxmd.com/read/25273337/new-quantitative-aptt-waveform-analysis-and-its-application-in-laboratory-management-of-haemophilia-a-patients
#1
M Milos, D Coen Herak, S Zupancic-Salek, R Zadro
Diagnosis of haemophilia A is usually made by the measurement of factor VIII (FVIII) activity that allows categorization of the disease severity. However, tests that assess global haemostasis may better reflect clinical features and give additional clinically relevant information. The aim of this study was to develop a new quantitative activated partial thromboplastin time (aPTT) waveform analysis and compare it with FVIII activities to find out whether waveform parameters are superior determinants of clinical phenotype...
November 2014: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/25273847/prenatal-diagnosis-of-haemophilia-in-sweden-now-more-commonly-used-for-psychological-preparation-than-termination-of-pregnancy
#2
A Mårtensson, U Tedgård, R Ljung
The aims of the study were to define the frequency, outcome and reasons for prenatal diagnosis (PND) in Sweden during a 30-year period in order to study trends and changes. The study population, from the Swedish nationwide registry of PND of haemophilia, consisted of 54 women, compromising >95% of all, who underwent PND (n = 90) of haemophilia during 1977-2013. PND was performed by amniocentesis (n = 10), chorionic villus sampling (n = 64) or by analysis of foetal blood (n = 16). A total of 27/90 foetuses were found to have haemophilia...
November 2014: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/25196590/prenatal-diagnosis-in-haemophilia-a-experience-of-the-genetic-diagnostic-laboratory
#3
L Kessler, R Adams, L Mighion, S Walther, A Ganguly
The paper describes the experience of the Genetic Diagnostic Laboratory in prenatal testing for haemophilia A, an X-linked recessive disease caused by mutations in the F8 gene. Knowledge of a familial mutation prior to pregnancy can benefit prenatal diagnosis and decrease wait time for molecular testing during pregnancy. This is a retrospective review of a series of pregnant women who pursued F8 gene testing from December 1997 through May 2012, highlighting three cases, which demonstrate the technical complexities of analysis and the implications of not knowing carrier status prior to pregnancy...
November 2014: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/25156825/native-plasma-derived-fviii-vwf-complex-has-lower-sensitivity-to-fviii-inhibitors-than-the-combination-of-isolated-fviii-and-vwf-proteins-impact-on-bethesda-assay-titration-of-fviii-inhibitors
#4
M I Bravo, B Da Rocha-Souto, S Grancha, J I Jorquera
Sensitivity to FVIII inhibitors of the native plasma-derived (pd) FVIII/VWF complex vs. the complexes formed after exogenous FVIII infusion in the haemophilic patient has not been thoroughly studied. The role of VWF in the interaction of FVIII with inhibitors was studied in vitro using different combinations of VWF and FVIII concentrates. Normal plasma, pdFVIII/VWF and isolated FVIII (recombinant FVIII, B-domain deleted and pdFVIII) were used. Titre (BU) was kinetically determined (up to 2 h) in serial dilutions of inhibitor IgG (purified from a pool of plasmas with inhibitors) mixed with VWF and then incubated with the different FVIII...
November 2014: Haemophilia: the Official Journal of the World Federation of Hemophilia
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