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Haemophilia: the Official Journal of the World Federation of Hemophilia

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https://www.readbyqxmd.com/read/30648814/moderate-haemophilia-in-focus
#1
Erik Berntorp
No abstract text is available yet for this article.
January 16, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30648777/the-characteristics-and-spectrum-of-f9-mutations-in-chinese-sporadic-haemophilia-b-pedigrees
#2
Yeling Lu, Xi Wu, Jing Dai, Qiulan Ding, Wenman Wu, Xuefeng Wang
INTRODUCTION: Sporadic haemophilia B (HB) without obvious familial history poses challenges for genetic diagnosis and counselling. AIM: To identify the F9 variants in sporadic HB patients and probe the origin of these de novo mutations. METHOD: A total of 294 unrelated HB pedigrees sought genetic diagnosis were analysed in this single-centre study. The F9 gene was analysed by direct sequencing, and AccuCopy technique was adopted to screen for gene copy number variations...
January 16, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30648774/bleed-volume-of-experimental-knee-haemarthrosis-correlates-with-the-subsequent-degree-of-haemophilic-arthropathy
#3
Kåre Kryger Vøls, Mads Kjelgaard-Hansen, Carsten Dan Ley, Axel Kornerup Hansen, Maj Petersen
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...
January 16, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30615816/incidence-and-risk-factors-for-hepatocellular-cancer-in-individuals-with-haemophilia-a-national-inpatient-sample-study
#4
Alvin Thalappillil, Margaret V Ragni, Diane M Comer, Jonathan G Yabes
INTRODUCTION: Among haemophilic (H) men, hepatitis C virus (HCV) is the leading cause of liver disease and mortality, but demographics and risks of hepatocellular carcinoma (HCC) in H are not well known. METHODS: Adult discharges in H and non-haemophilic (NH) men, with and without HCC were identified in the National Inpatient Sample (NIS) between 1998 and 2014, using ICD-9 codes. Analyses included NIS-provided discharge-level weights to reflect national estimates...
January 7, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30604914/the-1st-wfh-gene-therapy-round-table-understanding-the-landscape-and-challenges-of-gene-therapy-for-haemophilia-around-the-world
#5
REVIEW
Glenn F Pierce, Donna Coffin
In this first in a series of round table meetings, the 1st World Federation of Hemophilia Gene Therapy Round Table was convened to initiate a global dialogue on the expected challenges and opportunities that a disruptive therapy, such as gene therapy, will bring to the haemophilia community. Perspectives from key stakeholder groups, including healthcare professionals, regulators, payors, people with hemophilia and pharmaceutical industry representatives, were sought in the identification of the key issues we expect to face...
January 3, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30604912/predictive-factors-of-immune-tolerance-treatment-response-in-severe-haemophilia-a-patients-with-inhibitors-a-real-world-report-from-a-single-centre-mixed-retrospective-prospective-long-term-study
#6
LETTER
Saturnino Haya, Carlos Solano, Ana Rosa Cid, Bienvenida Argilés, David Hervás, Felipe Querol, Santiago Bonanad, Pilar Casaña
No abstract text is available yet for this article.
January 3, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30604911/development-of-competencies-related-to-diagnosis-and-management-of-bleeding-disorders-in-women-and-girls-for-use-in-residency-training
#7
LETTER
Dalia Karol, Philip Tsang, Gaeun Rhee, Daniel Weiss, Karima Khamisa, Elianna Saidenberg
No abstract text is available yet for this article.
January 3, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30604899/treatment-of-acquired-haemophilia-with-recombinant-porcine-factor-viii-a-successful-strategy-in-a-patient-with-unstable-angina
#8
LETTER
Mary Owen, Gillian Gidley, Elizabeth H Horn
No abstract text is available yet for this article.
January 3, 2019: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30589157/successful-coronary-artery-bypass-graft-surgery-in-severe-congenital-factor-vii-deficiency-perioperative-treatment-with-pd-factor-vii-concentrate
#9
LETTER
G Giuffrida, D Nicolosi, A Giuffrida, C Rapisarda, V Calafiore, A Giuffrida, F Di Raimondo
No abstract text is available yet for this article.
December 27, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30589148/accurate-measurement-of-extended-half-life-and-unmodified-factor-viii-low-levels-with-one-stage-fviii-assays-is-dependent-on-the-matrix-of-calibration-curves
#10
Dorien Van den Bossche, Jelle Toelen, Joke Schoeters, Isa Van Horenbeeck, Ingrid Vanlinthout, Mirjam Debasse, Kathelijne Peerlinck, Marc Jacquemin
INTRODUCTION: The monitoring of factor VIII (FVIII) replacement therapy relies on the accurate measurement of FVIII activity over a large concentration range. However, unexplained overestimation of low FVIII levels has recently been reported with extended half-life recombinant FVIIIs. AIM: The objective of this study was to confirm previous publications indicating that the reagents used to generate the calibration curves determine the accuracy of the measurement of low FVIII levels...
December 27, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30570186/complete-remission-in-a-bleeding-patient-with-idiopathic-autoimmune-factor-x-deficiency-caused-by-non-neutralizing-anti-factor-x-autoantibody
#11
LETTER
Makiko Mori, Kanako Mochizuki, Masayoshi Souri, Yuka Nakamura, Naoko Tokuman, Kazunori Kanouchi, Keita Morikane, Akitada Ichinose
No abstract text is available yet for this article.
December 20, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30561879/the-invisible-child-sibling-experiences-of-growing-up-with-a-brother-with-severe-haemophilia-an-interpretative-phenomenological-analysis
#12
Catherine Tregidgo, James Elander
INTRODUCTION: Haemophilia is an inherited chronic condition that causes bleeding in the joints and soft tissue. Healthy siblings growing up in the family of a person with haemophilia can be affected socially and psychologically. AIM: To explore qualitatively the experiences of healthy siblings who grew up with a brother with severe haemophilia. METHODS: Eleven healthy siblings (10 female, one male) who grew up with a brother with severe haemophilia A were recruited via the Haemophilia Society UK...
December 18, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30561877/mycophenolate-mofetil-as-adjunctive-therapy-in-acquired-haemophilia-a
#13
LETTER
Samya Obaji, Rachel Rayment, Peter W Collins
No abstract text is available yet for this article.
December 18, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30561871/a-single-centre-study-of-management-of-pregnant-women-with-von-willebrand-disease
#14
LETTER
Zizhen Xu, Yesim Dargaud, Valérie Chamouard, Sandra Le Quellec, Anne Lienhart, Sandrine Meunier, Lucia Rugeri
No abstract text is available yet for this article.
December 18, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30520547/potential-limits-of-aav-based-gene-therapy-with-the-use-of-new-transgenes-expressing-factor-ix-fusion-proteins
#15
Sandra Le Quellec, Allison Dane, Nathalie Enjolras, Jenny McIntosh, Cecilia Rosales, Claude Negrier, Amit Nathwani
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...
December 6, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30520541/posturographic-and-ankle-muscle-activation-characteristics-in-patients-with-haemophilia
#16
Eduard Kurz, Marco Herbsleb, Holger H W Gabriel, Thomas Hilberg
INTRODUCTION: The objective of this work was to examine the interrelations of posturographic and surface EMG (SEMG) characteristics of ankle muscles in patients with haemophilia while standing naturally. METHODS: Surface EMG of five bilaterally recorded ankle muscles was conducted in 24 patients with haemophilia (PwH, age: 42 [11] years, mean [SD], 22 A, 2 B, 21 severe, 3 moderate) with median (quartiles) WFH orthopaedic joint score of 30 (20/39) points and 24 non-haemophilic controls (Con, age: 42 [12])...
December 6, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30520534/test-retest-properties-of-the-patient-reported-outcomes-burdens-and-experiences-probe-questionnaire-and-its-constituent-domains
#17
Chatree Chai-Adisaksopha, Mark W Skinner, Randall Curtis, Neil Frick, Michael B Nichol, Declan Noone, Brian O'Mahony, David Page, Jeffrey Stonebraker, Lehana Thabane, Mark A Crowther, Alfonso Iorio
BACKGROUND: The Patient Reported Outcomes, Burdens and Experiences (PROBE) study aims to develop and validate questionnaire for assessing health status in patients with haemophilia and participants without bleeding disorders. OBJECTIVE: To investigate the test-retest properties of the PROBE questionnaire. METHODS: The PROBE questionnaire covers four domains and is comprised of 29 questions. People with haemophilia (PWH) and participants without bleeding disorder were invited to participate in this study...
December 6, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30507056/a-rare-presentation-of-homozygous-factor-x-deficiency-in-a-pregnant-patient-a-case-report-and-review-of-the-literature
#18
LETTER
Marie-Astrid van Dievoet, Marc Jacquemin, Kristel Van Calsteren, Kathelijne Peerlinck
No abstract text is available yet for this article.
December 3, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30507053/a-case-of-moderate-haemophilia-a-with-inhibitor-carrying-the-p-r1800h-mutation-complicated-with-juvenile-idiopathic-arthritis
#19
LETTER
Yuka Kondo, Yasuaki Shida, Tomoaki Ishikawa, Koji Yada, Masahiro Takeyama, Midori Shima, Keiji Nogami
No abstract text is available yet for this article.
December 3, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/30507046/over-two-decades-of-orthopaedic-surgery-in-patients-with-inhibitors-quantifying-the-complication-of-bleeding
#20
REVIEW
Gurhan Erturan, Borna Guevel, Abtin Alvand, Nicholas J Goddard
Patients with haemophilia who have developed inhibitors against factor VIII (FVIII) or factor IX present a significant concern to those surgeons who operate on them. The evidence base for bypassing agents such as recombinant factor VIIa and activated prothrombin complex concentrate has amassed over several decades. The literature is open to positive interpretation on the successful use of these agents in the treatment of inhibitor-positive patients. However, there are equally persistent concerns amongst surgeons, in particular orthopaedic surgeons, regarding the high complication rate of bleeding...
December 3, 2018: Haemophilia: the Official Journal of the World Federation of Hemophilia
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