MedWorm.com provides a medical RSS filtering service. Over 6000 RSS medical sources are combined and output via different filters. This feed contains the latest items from the 'Haemophilia' source. Wed, 08 Feb 2012 17:42:01 +0100 http://www.medworm.com/index.php?rid=5649218&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2012.02749.x Summary.  Clinical research should form a core component of the role of haemophilia nurse specialists. The UK Haemophilia Nurses Association sought to determine the barriers that prevent nurse specialists from engaging in research and to seek ways to promote clinical research by haemophilia nurses in the UK. Web‐based survey with subsequent workshop discussion was conducted. Responses were received from 32 nurses (a 50% response rate), all of whom agreed that haemophilia nurses should be actively involved in nursing research although only 21 had actually participated in research specifically related to haemophilia practice. Of these, most research had been related to educational programmes or (less commonly) was limited to data collection as part of multidisciplinary studies. Involveme... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5649218 Mon, 30 Jan 2012 05:00:00 +0100 5649218 http://www.medworm.com/index.php?rid=5610031&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02738.x In conclusion, haemoctin SDH was effective, safe and well tolerated in long‐term prophylaxis and treatment on demand. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610031 Wed, 18 Jan 2012 05:00:00 +0100 5610031 http://www.medworm.com/index.php?rid=5610030&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02739.x Summary.  Neutralizing inhibitors develop in 20–30% of patients with severe factor VIII (FVIII) deficiency. It is well established that Blacks have a higher prevalence of inhibitors than Whites. This is the first study to definitively demonstrate increased inhibitor prevalence in the Hispanic population. We compared inhibitor prevalence among various racial and ethnic groups in a cross‐sectional analysis of 5651 males with severe haemophilia A that participated in the Universal Data Collection project sponsored by the Centers for Disease Control and Prevention. We used logistic regression analysis to control for potential confounding variables. We assigned as Hispanic those participants who were white and labelled themselves Hispanic. The prevalence of high‐titre inhibitors in the H... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610030 Wed, 18 Jan 2012 05:00:00 +0100 5610030 http://www.medworm.com/index.php?rid=5610029&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02747.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610029 Wed, 18 Jan 2012 05:00:00 +0100 5610029 http://www.medworm.com/index.php?rid=5610028&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02729.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610028 Wed, 18 Jan 2012 05:00:00 +0100 5610028 http://www.medworm.com/index.php?rid=5610027&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02742.x Summary.  Carriers of haemophilia face difficult choices regarding prenatal diagnosis, but little is known about the determinants that influence their decisions. The aim of this study was to assess the incidence of prenatal diagnosis and potential determinants affecting the choice for prenatal diagnosis. A nationwide survey was performed among all women who underwent carriership testing for haemophilia in the Netherlands between 1992 and 2004. Prenatal diagnosis was assessed in 207 carriers of haemophilia A or B who had been pregnant. Prenatal diagnosis was categorized into early first trimester (Y‐PCR testing or chorionic villus sampling) often intended to prevent the birth of a child with haemophilia, and into late prenatal diagnosis (amniocentesis or ultrasound assessment) aimed at ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610027 Wed, 18 Jan 2012 05:00:00 +0100 5610027 http://www.medworm.com/index.php?rid=5610026&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02745.x Summary.  In the last three decades there have been dramatic improvements in the availability and quality of treatment for people with inherited coagulation disorders. Indeed, the improvement of methods of purification and viral inactivation for plasma‐derived coagulation factor concentrates first and then the development of products utilizing recombinant DNA technology have greatly improved the life expectancy of hemophiliacs, which has progressively become similar to that of males in the general population. Nowadays, the most frequent complication of factor replacement therapy for hemophilia is the development of inhibitors. However, no studies so far have systematically analysed the type and incidence of other adverse reactions following the administration of coagulation factor conc... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610026 Wed, 18 Jan 2012 05:00:00 +0100 5610026 http://www.medworm.com/index.php?rid=5583356&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02731.x Summary.  The prevalence of malignancies in US male patients with haemophilia, with or without concomitant viral infections, remains unknown. To estimate the prevalence of malignancy in US male patients with haemophilia. We investigated the prevalence of malignancies among male patients with haemophilia using data from a six‐state haemophilia surveillance project. Case patients with malignancies were identified using International Classification of Diseases, 9th Revision, Clinical Modification codes abstracted from hospital records and death certificates during the surveillance period. Cancer prevalence rates were calculated for each year during the surveillance and compared with age‐ and race‐specific prevalence rates among the U.S. male population obtained from the Surveillance, ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5583356 Sun, 08 Jan 2012 05:00:00 +0100 5583356 http://www.medworm.com/index.php?rid=5583355&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02733.x This study is a retrospective review of patients <19 years of age diagnosed with δ‐PSPD at Nationwide Children’s Hospital from 2008 to 2010. To examine the correlation between PFA‐100® and average number of granules per platelet we used Spearman’s Rho as a non‐parametric measure of dependence. A total of 105 patients diagnosed with δ‐PSPD were included, of which 99 patients underwent PFA‐100® testing. Of those tested 46% had at least one abnormal closure time, whereas 16% had abnormal results for both cartridges. We found no statistical correlation between C‐EPI closure time and average number of granules per platelet (ρ= −0.0095, P‐value = 0.9328), nor between C‐ADP closure time and the average number of granules (ρ = 0.0315, P‐value = 0.7798).... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5583355 Sun, 08 Jan 2012 05:00:00 +0100 5583355 http://www.medworm.com/index.php?rid=5561179&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02740.x Summary.  Menorrhagia is the most common bleeding manifestation in women with inherited bleeding disorders. There is little known about whether the management of menorrhagia is altered in specific bleeding disorders. Optimizing treatment strategies for each specific diagnosis may improve quality of life in these women. This work aimed to look for a potential relationship between the specific diagnosis of an inherited bleeding disorder and the intervention required to control the menorrhagia. A retrospective chart review was performed for all women seen in the Kingston Women and Bleeding Disorders Clinic. Patients were categorized by diagnosis into two groups: Haemophilia carriers and all others. Treatment options were grouped into two categories: Medical or gynecological/surgical. Overal... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561179 Thu, 05 Jan 2012 05:00:00 +0100 5561179 http://www.medworm.com/index.php?rid=5561178&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02741.x Summary.  Prophylactic infusion of clotting factor concentrates is a developing standard of care for individuals with haemophilia. The ideal schedule and techniques of prophylactic infusions remain incompletely defined. Our aim was to determine the optimal techniques and schedules for factor prophylaxis in paediatric patients. A retrospective electronic medical record review of all children treated with prophylactic factor infusions in a single Haemophilia Treatment Center was conducted. Comparison of traditional vs. Canadian dosing regimens and primary vs. secondary prophylaxis was made. Failure of prophylaxis was defined as the first serious bleed. A total of 58 children were identified for review. Five cases were excluded (four due to high titre inhibitors and one due to repeated non�... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561178 Thu, 05 Jan 2012 05:00:00 +0100 5561178 http://www.medworm.com/index.php?rid=5561177&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02743.x Summary.  Following a presentation given at the 16th Australian and New Zealand Haemophilia Conference; Enjoying your sex life: Issues and solutions for men with physical impairment [Dune TM. Enjoying your sex life: issues and solutions for men with physical impairment. 16th Australian and New Zealand Haemophilia Conference: Health and Wellbeing – The Decade Ahead. Sydney, Australia: Haemophilia Foundation Australia, 2011], this note summarizes some of the issues and discusses solutions men with haemophilia and chronic illness highlight when negotiating their sexuality. This note also purports that the lack of clinical expertise and empirical research on sexuality and haemophilia hinders to provision of holistic health care. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561177 Thu, 05 Jan 2012 05:00:00 +0100 5561177 http://www.medworm.com/index.php?rid=5561184&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02727.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561184 Wed, 04 Jan 2012 05:00:00 +0100 5561184 http://www.medworm.com/index.php?rid=5561183&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02730.x Summary.  Data on the clinical manifestations of patients with clotting factor defects other than Haemophilia A, B and von Willebrand disease are limited because of their rarity. Due to their autosomal recessive nature of inheritance, these diseases are more common in areas where there is higher prevalence of consanguinity. There is no previous large series reported from southern India where consanguinity is common. Our aim was to analyze clinical manifestations of patients with rare bleeding disorders and correlate their bleeding symptoms with corresponding factor level. Data were collected in a standardized format from our centre over three decades on 281 patients who were diagnosed with rare bleeding disorders (fibrinogen, prothrombin, factor V (FV), FVII, FX, FXI, FXIII and combined ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561183 Wed, 04 Jan 2012 05:00:00 +0100 5561183 http://www.medworm.com/index.php?rid=5561182&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02735.x Summary.  Intravenous infusion studies in humans suggest that both von Willebrand factor (VWF) and factor VIII (FVIII) remain intravascular in contrast to other coagulation proteins. We explored whether infusion of VWF and FVIII by either intraperitoneal (i.p.) or subcutaneous (s.c.) injection would result in efficient absorption of these large proteins into the vascular circulation. FVIIInull or VWFnull mice were infused with plasma‐derived or recombinant VWF and/or FVIII by i.p., s.c., or intravenous (i.v.) injection. Both VWF and FVIII were absorbed into the blood circulation after i.p. injection with a peak between 2 and 4 h at levels similar to those observed in mice infused intravenously. In contrast, neither VWF nor FVIII was detected in the plasma following s.c. injection. Al... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561182 Wed, 04 Jan 2012 05:00:00 +0100 5561182 http://www.medworm.com/index.php?rid=5561181&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02736.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561181 Wed, 04 Jan 2012 05:00:00 +0100 5561181 http://www.medworm.com/index.php?rid=5561180&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02737.x Summary.  To investigate disease causing mechanism in haemophilia A patients without detectable mutation. Screening for F8 mutations in 307 haemophilia A patients using: re‐sequencing and inversion PCR, reverse transcription (RT‐PCR) of mRNA, MLPA analysis, haplotyping using SNP and microsatellite markers. No F8 mutations were detected in 9 of the 307 patients (2.9%) using re‐sequencing and inversion PCR. MLPA analysis detected duplication in exon 6 in one patient and RT‐PCR showed no products for different regions of mRNA in four other patients, indicating failed transcription. No obvious associations were observed between the phenotypes of the nine patients, their F8 haplotypes and the putative mutations detected. The mutation‐positive patients carrying the same haplotypes as... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561180 Wed, 04 Jan 2012 05:00:00 +0100 5561180 http://www.medworm.com/index.php?rid=5649217&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2012.02752.x Summary.  Nowadays, nearly all severe haemophilia patients in the Netherlands practice self infusion at home. Learning intravenous administration of clotting factor requires time and effort. In order to inform patients about the burden and time‐investment needed to learn intravenous infusion, we performed a two‐centre retrospective study. All data on the learning processes, involving haemophilia patients born between 1980 and 2010 treated in Utrecht or Amsterdam, were extracted from patient files. A total of 154 patients and their parents were analysed (168 learning processes). Almost all patients had severe haemophilia and started prophylaxis at a median age of 2.7 years. 152/154 patients successfully learned intravenous infusion, including nine patients who temporally stopped and... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5649217 Sun, 01 Jan 2012 05:00:00 +0100 5649217 http://www.medworm.com/index.php?rid=5629851&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02732.x Summary.  Haemophilia A (HA) is the most common hereditary bleeding disorder caused by F8 gene mutation. Linkage analysis is an auxiliary strategy to direct mutation analysis for genetic counselling of HA. Here we characterize and validate a novel panel of six short tandem repeat (STR) loci for genetic counselling in Chinese HA pedigrees. The panel was analysed in 116 unrelated healthy female patients and 108 male patients, and verified in 169 unrelated pedigrees with HA. The six STR loci in the panel spanned a distance of 0.3 Mb from each side of the F8 gene. Three of them, F8Up226, F8Up146 and F8Down48, were first described here. Markers F8Up226, F8Up146, F8Int13, F8Int25, F8Down48 and DXS1073 exhibited the number of alleles 16, 9, 8, 6, 9 and 10, and heterozygosity rates of 74.8%, 4... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5629851 Sun, 01 Jan 2012 05:00:00 +0100 5629851 http://www.medworm.com/index.php?rid=5610024&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02744.x Summary.  Treatment of the bleeding syndrome in Glanzmann thrombasthenia (GT) is often complicated by naturally occurring isoantibodies directed against the αIIbβ3 integrin that cause the removal of or render ineffective transfused donor platelets. Such antibodies are produced after transfusion or pregnancy when the patient’s immune system comes into contact with normal platelets. Despite many reports of anti‐αIIbβ3 antibodies in GT patients, there is no consensus pertaining to their frequency, their long‐term evolution in the circulation, or their formation in relation to either (i) the extent of the αIIbβ3 deficiency in the patient’s platelets or (ii) the nature of the genetic defect (ITGA2B or ITGB3 genes). Antibody screening was performed on a large series of 24 GT pati... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5610024 Sun, 01 Jan 2012 05:00:00 +0100 5610024 http://www.medworm.com/index.php?rid=5583354&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02734.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5583354 Sun, 01 Jan 2012 05:00:00 +0100 5583354 http://www.medworm.com/index.php?rid=5561176&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02746.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5561176 Sun, 01 Jan 2012 05:00:00 +0100 5561176 http://www.medworm.com/index.php?rid=5526234&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02725.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526234 Thu, 22 Dec 2011 10:26:21 +0100 5526234 http://www.medworm.com/index.php?rid=5526233&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02573.x In conclusion, this review shows that DDAVP in selected cases is effective in reducing bleeding complications associated with pregnancy and childbirth with a good safety record. Further research is needed to confirm these findings as they are based on the currently available evidence from small studies and case series only. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526233 Thu, 22 Dec 2011 10:25:13 +0100 5526233 http://www.medworm.com/index.php?rid=5526232&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02718.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526232 Thu, 22 Dec 2011 10:25:06 +0100 5526232 http://www.medworm.com/index.php?rid=5526231&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02722.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526231 Thu, 22 Dec 2011 10:25:05 +0100 5526231 http://www.medworm.com/index.php?rid=5526230&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02726.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526230 Thu, 22 Dec 2011 10:25:03 +0100 5526230 http://www.medworm.com/index.php?rid=5526227&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02713.x The objective of this study is to provide information on health care utilization and expenditures for publicly insured people with haemophilia in the United States in comparison with people with haemophilia who have ESI. Data from the MarketScan® Medicaid Multi‐State, Commercial and Medicare Supplemental databases were used for the period 2004−2008 to identify cases of haemophilia and to estimate medical expenditures during 2008. A total of 511 Medicaid‐enrolled males with haemophilia were identified, 435 of whom were enrolled in Medicaid for at least 11 months during 2008. Most people with haemophilia qualified for Medicaid based on ‘disability’. Average Medicaid expenditures in 2008 were $142,987 [median, $46,737], similar to findings for people with ESI. Average costs for m... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526227 Thu, 22 Dec 2011 10:22:47 +0100 5526227 http://www.medworm.com/index.php?rid=5526228&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02712.x Summary.  There are currently limited data on the use of endometrial ablation in the treatment of heavy menstrual bleeding (HMB) in women with inherited bleeding disorders (IBDs). A retrospective review of prospectively collected data was performed. Twelve women with IBDs who had received endometrial ablation for the treatment of HMB were identified and their records reviewed. Details of their menstrual history; quality of life (QOL) and amount of menstrual blood loss [as assessed by pictorial blood‐loss assessment chart (PBAC) and haemoglobin (Hb) concentration] pre and post‐ablation were collected. Twelve women were included. The median duration of follow‐up post‐ablation was 32 months (range, 6–76). The median duration of menstruation decreased from 11 to 0 days after tr... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526228 Wed, 21 Dec 2011 05:00:00 +0100 5526228 http://www.medworm.com/index.php?rid=5526229&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02728.x Summary.  Total knee arthroplasty, or replacement (TKR), is now the most commonly performed surgical procedure performed in adults with haemophilia. It is indicated when end‐stage haemophilic arthropathy results in intractable pain and reduced function. In patients with haemophilia, however, there has always been a concern about the high risk of infection, which carries with it potentially catastrophic consequences. The aims of this study were to review the case series of TKR for haemophilic arthropathy published in the medical literature, comparing the published infection rates and the differing clotting factor replacement regimes employed. Nineteen retrospective case series were identified; representing 556 TKR’s in 455 patients with an overall infection rate of 7.9%. Case series w... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5526229 Tue, 20 Dec 2011 05:00:00 +0100 5526229 http://www.medworm.com/index.php?rid=5516048&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02702.x Summary.  Inhibitor development is the most significant complication in the therapy of haemophilia A (HA) patients. In spite of many studies, not much is known regarding the mechanism underlying inhibitor development. To understand the mechanism, we analysed profiles of differentially expressed genes (DEGs) between inhibitor and non‐inhibitor HA via a microarray technique. Twenty unrelated Korean HAs were studied: 11 were non‐inhibitor and nine were HA with inhibitor (≥5 BU mL−1). Microarray analysis was conducted using a Human Ref‐8 expression Beadchip system (Illumina) and the data were analysed using Beadstudio software. We identified 545 DEGs in inhibitor HA as compared with the non‐inhibitor patients; 384 genes were up‐regulated and 161 genes were down‐regulated.... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516048 Mon, 19 Dec 2011 05:00:00 +0100 5516048 http://www.medworm.com/index.php?rid=5516047&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02706.x In this study, we aim to report the experience of circumcision at Çukurova University in a total of 76 patients with haemophilia between 1990 and 2011. We retrospectively reviewed medical records of 69 haemophilia patients without inhibitors and seven haemophilia patients with inhibitors who had been circumcised. Before the year 2000, factor concentrates were given before and after circumcision for 6–7 days. After 2000, we used fibrin glue together with factor concentrates for only 3 days. By‐passing agents were used for circumcision in haemophilia patients with inhibitors. Twelve of 69 patients without inhibitors were referred to our centre with bleeding after the circumcision before diagnosis of haemophilia. Nine of these twelve patients had severe life threatening bleeding and ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516047 Mon, 19 Dec 2011 05:00:00 +0100 5516047 http://www.medworm.com/index.php?rid=5516046&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02710.x Summary.  Severe factor V (FV) deficiency (parahaemophilia) is a rare congenital hemorrhagic disorder characterized by very low or undetectable plasma FV levels and bleeding phenotype ranging from mild to severe. We evaluated whole blood (WB) rotation thromboelastometry (ROTEM) in parahaemophilia patients and the contribution of intraplatelets FV, if any, to clot formation. Standard ROTEM® assays were performed in WB from nine parahaemophilia patients and 50 healthy controls. In addition, platelets poor plasma from one parahaemophilia patient (PPP‐Pt) or normal subjects (PPP‐N) was reconstituted with washed platelets obtained either from one patient with parahaemophilia (Plts‐Pt) or normal subjects (Plts‐N) and ROTEM assays were performed in platelets rich plasma (PRP) samples. ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516046 Mon, 19 Dec 2011 05:00:00 +0100 5516046 http://www.medworm.com/index.php?rid=5516045&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02711.x Summary.  Although foot orthoses are often prescribed to patients with haemophilia (PWH) and ankle arthropathy, the efficacy and biomechanical effects of such devices are not fully understood. We experimentally investigated the effects of orthopedic insoles (OI) and shoes (OS) in PWH presenting ankle arthropathy, with specific attention being paid to pain, spatiotemporal parameters, kinematics and kinetics of lower limb joints, as well mechanical and energetic variables. Using three‐dimensional gait analysis (3DGA), synchronous kinematics, kinetics, spatiotemporal, mechanics, and metabolic gait parameters were measured in 16 PWH with ankle arthropathy. The revised Foot Function Index (FFI‐R) and 3DGA were determined in patients wearing neutral running shoes at two time points (T0 and... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516045 Mon, 19 Dec 2011 05:00:00 +0100 5516045 http://www.medworm.com/index.php?rid=5516044&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02715.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516044 Mon, 19 Dec 2011 05:00:00 +0100 5516044 http://www.medworm.com/index.php?rid=5516043&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02717.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516043 Mon, 19 Dec 2011 05:00:00 +0100 5516043 http://www.medworm.com/index.php?rid=5516042&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02719.x This study sought to determine the outcome of the vessels by magnetic resonance imaging (MRI) in children with haemophilia and to assess risk factors for development of catheter‐related deep venous thrombosis (DVT). After the removal of CVAD an MRI of the chest and neck was performed to 20 boys with haemophilia who each had 1–3 (total number 27) CVADs placed. MRI revealed DVT in five children (25%). As their CVADs were functional at the time of the removal, the DVTs were clinically silent. However, there had been suspicion of DVT leading to replacement of the CVAD in one case. All the children with DVT had their CVADs inserted initially below the age of 1 year. The clinical signs of mild post‐thrombotic syndrome (PTS) were common: dilated chest wall veins were observed in 11 (55%) ch... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516042 Mon, 19 Dec 2011 05:00:00 +0100 5516042 http://www.medworm.com/index.php?rid=5506080&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02709.x Summary.  The National Pain Study was a prospective, computer‐based, descriptive survey of the pain experience of persons with a bleeding disorder conducted in the United States over a 28 month period from 2007 to 2009. The aim of this study was to (i) determine the language used by patients to describe and differentiate acute and persistent pain, (ii) describe pharmacological and non‐pharmacological strategies utilized to control pain, (iii) assess the perceived effectiveness of current pain management on quality of life and, (iv) to determine who provides pain management to this population. One thousand, one hundred and four surveys were received. Only the responses of the 764 respondents who reported having hemophilia A or B were evaluated for this paper. Thirty nine percent of pa... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5506080 Fri, 16 Dec 2011 05:00:00 +0100 5506080 http://www.medworm.com/index.php?rid=5506079&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02704.x This study aimed to assess the prescribed and actual rFVIIa dosing in frequently bleeding inhibitor patients (≥4 bleeds in 3 months) prescribed first‐line therapy with rFVIIa. Patients or caregivers recorded daily diaries, including the details of all bypassing agent infusions for 3–6 months. Median (range) initial rFVIIa dose prescribed for joint, muscle and other bleeds was 167.5 (61.0–289.0) mcg kg−1. Additional rFVIIa doses prescribed were 90 (61–270) mcg kg−1 at an interval of 2.5–3 (1–24) h. The actual initial rFVIIa dose reported by patients/caregivers for 158 bleeds was 212 (59–400) mcg kg−1, with total dose per episode of 695 (74–21257) mcg kg−1. Patient/caregiver‐reported average dose per bleed was 146 (40–400) mcg kg−1 ac... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5506079 Fri, 16 Dec 2011 05:00:00 +0100 5506079 http://www.medworm.com/index.php?rid=5506081&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02698.x Summary.  General guidelines exist for the use of recombinant activated factor VII (rFVIIa) to maintain haemostasis during surgery in congenital haemophilia A and B patients with high responding inhibitors (CHwI). Individual surgical plans are required and based upon historical therapy response, adverse events and anticipated procedure. Surgical interventions are feasible, yet it remains unclear how many US hemophilia treatment centres (HTCs) perform procedures in this fragile population. To better understand the US HTC surgical experience in CHwI patients and the number/types of procedures performed, a 21‐question survey was sent to 133 US HTCs, with follow‐up for response clarification and to non‐responders. 98/133 HTCs (74%) responded, with 87 currently treating CHwI patients. I... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5506081 Wed, 14 Dec 2011 05:00:00 +0100 5506081 http://www.medworm.com/index.php?rid=5495475&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02723.x Summary.  In an ongoing health‐technology assessment of haemophilia treatment in Sweden, performed by the governmental agency Dental and Pharmaceutical Benefits Agency (TLV; tandva˚rds‐och lākemedelsförma˚nsverket), the Swedish Council on Health Technology Assessment (SBU; statens beredning för medicinsk utvārdering) was called upon to evaluate treatment of haemophilia A and B and von Willebrand’s disease (VWD) with clotting factor concentrates. To evaluate the following questions: What are the short‐term and long‐term effects of different treatment strategies? What methods are available to treat haemophilia patients that have developed inhibitors against factor concentrates? Based on the questions addressed by the project, a systematic database search was conducted in Pu... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5495475 Mon, 12 Dec 2011 05:00:00 +0100 5495475 http://www.medworm.com/index.php?rid=5495474&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02724.x Summary.  Women with factor X deficiency (FXD) who want to become pregnant face uncertain risks to themselves and to an unborn infant from haemorrhagic complications during pregnancy and at parturition. Women with FXD may also experience difficulty achieving pregnancy secondary to haemorrhagic symptoms of the reproductive organs. Case reports describe differences in bleeding phenotypes and pregnancy outcomes that are not easily correlated with prepregnancy bleeding symptoms or factor X levels. The aim of this article is to identify factors for consideration and information to assist the physician in counselling women with FXD who want to become pregnant, and to offer guidelines for management where appropriate. We identified cases of pregnancy among women with FXD and their outcomes from... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5495474 Mon, 12 Dec 2011 05:00:00 +0100 5495474 http://www.medworm.com/index.php?rid=5495473&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02720.x Summary.  Treatment studies in haemophilia focus on joint bleeds; however, some 10–25% of bleeds occur in muscles. This review addresses management of muscle haematoma in severe haemophilia, defines gaps in the published evidence, and presents a combined clinician and physiotherapist perspective of treatment modalities. The following grade 2C recommendations were synthesized: (i) Sport and activity should be based on individual factor levels, bleeding history and physical characteristics, (ii) Musculoskeletal review aids the management of children and adults, (iii) ‘Time to full recovery’ should be realistic and based on known timelines from the healthy population, (iv) Diagnosis should be carried out by both a clinician and physiotherapist, (v) Severe muscle bleeds should be treat... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5495473 Mon, 12 Dec 2011 05:00:00 +0100 5495473 http://www.medworm.com/index.php?rid=5495472&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02692.x The objective of this study is to estimate average annual health care expenditures for people with hemophilia covered by employer‐sponsored insurance, stratified according to the influence of age, type of hemophilia [A (factor VIII deficiency) versus B (factor IX)], presence of neutralizing alloantibody inhibitors and exposure to blood‐borne viral infections. Data from the MarketScan® Commercial and Medicare Research Databases were used for the period 2002–2008 to identify cases of hemophilia and to estimate mean and median medical expenditures during 2008. A total of 1,164 males with hemophilia were identified with continuous enrollment during 2008, 933 with hemophilia A and 231 with hemophilia B. Mean health care expenditures were $155,136 [median $73,548]. Mean costs for 30 (3%) ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5495472 Mon, 12 Dec 2011 05:00:00 +0100 5495472 http://www.medworm.com/index.php?rid=5450092&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02699.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5450092 Mon, 28 Nov 2011 05:00:00 +0100 5450092 http://www.medworm.com/index.php?rid=5432437&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02693.x Summary.  Long used in established industrialized nations to treat patients with haemophilia and inhibitors, factor eight inhibitor bypassing activity (FEIBA) has, in recent years, been introduced into more geographically diverse settings. Data are needed on how successfully FEIBA therapy has been implemented in new regions. To determine the efficacy and safety of FEIBA for the treatment of acute bleeding and surgical haemostasis in a newly industrialized country. A multicentre registry of haemophilia A patients with inhibitors receiving FEIBA treatment was established in Turkey. With a standardized case report form, data were collected retrospectively on: patient demographics; characteristics of acute bleeding episodes and surgical interventions; FEIBA regimen; and treatment outcomes. T... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432437 Tue, 22 Nov 2011 05:00:00 +0100 5432437 http://www.medworm.com/index.php?rid=5432436&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02696.x Summary.  My comments on the implication of the vW molecule in down‐regulating the immunogenicity of factor VIII. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432436 Tue, 22 Nov 2011 05:00:00 +0100 5432436 http://www.medworm.com/index.php?rid=5432442&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02695.x Summary.  End‐stage haemophiliac arthropathy can be successfully treated with total knee arthroplasty. However, the functional results may not be as good as anticipated and certain pre‐op knee characteristics may alter the functional results. The purpose of this study was to evaluate the functional outcome of TKA in haemophilic patients with specific attention to final range of motion and residual flexion contracture of the joint. Twenty‐one consecutive patients were retrospectively reviewed. The average age was 34 years with an average follow‐up of 5.7 years. Functional status was evaluated with Hospital for Special Surgery Knee Score. Receiving Operating Characteristics analysis was used to determine the threshold of pre‐operative flexion contracture degree to avoid resid... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432442 Mon, 21 Nov 2011 05:00:00 +0100 5432442 http://www.medworm.com/index.php?rid=5432441&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02697.x Summary.  Hepatitis C infection is a major comorbidity in patients with inherited bleeding disorders. Successful antiviral treatment leads to a reduction in liver fibrosis, as shown by liver biopsies. Liver stiffness measurement (LSM) is a non‐invasive method of assessing liver fibrosis. The aim of this cohort study was to evaluate the long‐term effect of successful antiviral treatment, using LSM, in HCV‐infected patients with inherited bleeding disorders. The LSM were performed in 2005 (LSM 1) and 2009 (LSM 2) in 39 patients who were successfully treated for HCV. The change in liver fibrosis between LSM 1 and 2 was assessed. The median duration of HCV infection was 28.8 years. A total of 22 patients (56%) underwent successful antiviral treatment before LSM 1 (group 1), and 17 pa... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432441 Mon, 21 Nov 2011 05:00:00 +0100 5432441 http://www.medworm.com/index.php?rid=5432440&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02700.x This report examines the relationship of genotype and race/ethnicity to history of inhibitor in a large cohort of US haemophilia patients. Mutation analysis was performed on 676 haemophilia A (HA) and 153 haemophilia B (HB) patients by sequencing, Multiplex Ligation‐dependent Probe Amplification, and PCR for inversions in F8 introns 22 (inv22) and 1 (inv1). Two HB patients with deletions had history of inhibitor. In severe HA, frequency of history of inhibitor was: large deletion 57.1%, splice site 35.7%, inv22 26.8%, nonsense 24.5%, frameshift 12.9%, inv1 11.1% and missense 9.5%. In HA, 19.6% of 321 White non‐Hispanics (Whites), 37.1% of 35 Black non‐Hispanics (Blacks) and 46.9% of 32 Hispanics had history of inhibitor (P = 0.0003). Mutation types and novel mutation rates were s... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432440 Mon, 21 Nov 2011 05:00:00 +0100 5432440 http://www.medworm.com/index.php?rid=5432439&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02703.x Summary.  Multi‐site studies are necessary in the field of haemophilia to ensure adequate sample sizes. Quality of life (QoL) instruments need to be harmonized across languages and cultures to facilitate their inclusion. The purpose of this study was to adapt the Canadian Haemophilia Outcomes – Kids Life Assessment Tool (CHO‐KLAT©) and HAEMO‐QoL‐A© to French for Canada. The CHO‐KLAT and the HAEMO‐QoL‐A are haemophilia‐specific measures of QoL for boys and men respectively. Both measures originated in English, were translated into Canadian French by clinicians with expertise in haemophilia care, back‐translated by expert translators and harmonized by a multi‐disciplinary team. The harmonized versions were evaluated through a cognitive debriefing process with 6 boys... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432439 Mon, 21 Nov 2011 05:00:00 +0100 5432439 http://www.medworm.com/index.php?rid=5432438&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02705.x This study explored differences in muscle strength and morphology between typically developing and age and size‐matched boys aged 6–12 years with haemophilia and a history of recurrent haemorrhage in the ankle joint. Maximum muscle strength of the knee flexors (KF), extensors (KE), ankle dorsi (ADF) and plantar flexors (APF) was measured in 19 typically developing boys (Group 1) and 19 boys with haemophilia (Group 2). Ultrasound images of vastus lateralis (VL) and lateral gastrocnemius (LG) were recorded to determine muscle cross‐sectional area (CSA), thickness, width, fascicle length and pennation angle. Muscle strength of the KE, ADF and APF were significantly (P < 0.05) lower in Group 2 when compared with Group 1. Muscle CSA and width of VL were significantly smaller and ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432438 Mon, 21 Nov 2011 05:00:00 +0100 5432438 http://www.medworm.com/index.php?rid=5409578&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02691.x This article presents the changes in VWF parameters and details of patient management and delivery outcomes for four pregnancies in three women with two different mutations causing type 2B VWD. We report an unexpected rise in the VWF:Ag at 37 weeks gestation in two sisters with R1306W associated with significant thrombocytopenia. These patients were supported with platelet transfusions as well as intermediate purity VWF‐FVIII plasma concentrates during the peri‐ and postpartum periods. No thrombocytopenia was observed in our third case with a mutation encoding an R1308C substitution; haemostatic support was with intermediate purity VWF‐FVIII plasma concentrates alone. No adverse bleeding events occurred and in all cases a live healthy infant was delivered. One patient was readmitted ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5409578 Mon, 14 Nov 2011 05:00:00 +0100 5409578 http://www.medworm.com/index.php?rid=5388783&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02681.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388783 Tue, 08 Nov 2011 05:00:00 +0100 5388783 http://www.medworm.com/index.php?rid=5388782&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02683.x Summary.  Psychosocial factors have a significant impact on quality of life for patients with chronic diseases such as haemophilia. Interventions to support the psychosocial needs of patients and their families, such as offering information and assistance, clarifying doubts, and teaching coping strategies to minimize the impact of disabilities, may help to maximize patient outcomes and improve quality of life for their families. The aim of this study was to evaluate the current literature on psychosocial aspects of haemophilia. Literature searches were performed using the PubMed database to identify studies evaluating psychosocial stressors in persons with haemophilia. Articles pertaining to the HIV epidemic were excluded from the analysis, as were those published before 1997. The litera... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388782 Tue, 08 Nov 2011 05:00:00 +0100 5388782 http://www.medworm.com/index.php?rid=5388784&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02678.x The objective is to correlate haemostatic factors with haemorrhagic symptoms quantified by a standardized questionnaire. Adult subjects were recruited from Bangkok and nearby provinces as part of routine health surveys/checkups. The validated MCMDM‐1VWD form was used to assess their bleeding symptoms. At the same time, von Willebrand factor (VWF) activity, free protein S levels and protein C activity were measured. There were 5196 individuals. The mean age was 44.3 years (range 15–99) and 41% were male subjects. The mean bleeding score was −0.28 and 95% of subjects had scores between −2 and +2. The scores were lower in female subjects than in male subjects (−0.35 vs. −0.16, P < 0.001). Bleeding scores correlated negatively with age, VWF and protein C activities (Spearm... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388784 Mon, 07 Nov 2011 05:00:00 +0100 5388784 http://www.medworm.com/index.php?rid=5388794&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02684.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388794 Wed, 02 Nov 2011 04:00:00 +0100 5388794 http://www.medworm.com/index.php?rid=5388793&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02685.x This study was conducted to evaluate the safety of nonacog alfa in a usual care setting, and provide clinical trial and postmarketing surveillance data support. This open‐label, non‐interventional, prospective observational cohort study (registry) comprised 52 sites in nine European countries. Patients with haemophilia B receiving nonacog alfa in either formulation for prevention or treatment were followed on a usual care schedule. A total of 218 patients were enrolled, of whom 66 (30.3%) were <18 years of age. Haemophilia severity was evenly distributed, with baseline FIX activity of <1%, 1–5% and >5% in 33.3%, 36.6% and 30.1% of patients, respectively. One hundred thirty‐eight patients received the original formulation alone; 80 switched to or received only the new for... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388793 Wed, 02 Nov 2011 04:00:00 +0100 5388793 http://www.medworm.com/index.php?rid=5388792&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02686.x Summary.  Haemophilia A is a life long bleeding disorder caused by an inherited deficiency of factor VIII (FVIII). About 30% of haemophilia A patients develop neutralizing antibodies as a consequence of treatment with FVIII concentrates. Immune tolerance protocols for the eradication of inhibitors require daily delivery of intravenous FVIII. We evaluated the immune responses to serial intravenous administration of FVIII in preimmunized haemophilia A mice. We introduced an implantable venous‐access device (iVAD) system into haemophilia A mice to facilitate sequential infusion of FVIII. After preimmunization with FVIII, the haemophilia A mice were subjected to serial intravenous administration of FVIII through the iVAD system. In all mice with serial infusion of FVIII, high titers of ant... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388792 Wed, 02 Nov 2011 04:00:00 +0100 5388792 http://www.medworm.com/index.php?rid=5388791&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02688.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388791 Wed, 02 Nov 2011 04:00:00 +0100 5388791 http://www.medworm.com/index.php?rid=5388790&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02669.x Summary.  Haemophilia has been recognized as the most severe among the inherited disorders of blood coagulation since the beginning of the first millennium. Joint damage is the hallmark of the disease. Despite its frequency and severity, the pathobiology of blood‐induced joint disease remains obscure. Although bleeding into the joint is the ultimate provocation, the stimulus within the blood inciting the process and the mechanisms by which bleeding into a joint results in synovial inflammation (synovitis) and cartilage and bone destruction (arthropathy) is unknown. Clues from careful observation of patient material, supplemented with data from animal models of joint disease provide some clues as to the pathogenesis of the process. Among the questions that remain to be answered are the ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388790 Wed, 02 Nov 2011 04:00:00 +0100 5388790 http://www.medworm.com/index.php?rid=5388789&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02677.x This study indicated that most haemophilia A patients were inhibitor‐free with relatively stable annual costs over time. There was a wide distribution of haemophilia‐related cost for inhibitor patients, while the proportion of patients who incurred extreme high cost was low. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388789 Wed, 02 Nov 2011 04:00:00 +0100 5388789 http://www.medworm.com/index.php?rid=5388788&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02679.x Summary.  The development of inhibitory anti‐factor VIII (FVIII) antibodies in patients with haemophilia A following replacement therapy is associated with several types of risk factors. Among these, the purity of FVIII concentrates, and in particular the presence of von Willebrand factor (VWF), was controversially proposed to influence the immunogenicity of exogenous FVIII. We re‐assessed in vivo and in vitro the immuno‐protective effect of VWF towards FVIII. The immuno‐protective effect of VWF towards FVIII was investigated in vivo, in a model of haemophilia A. We studied the endocytosis of FVIII by murine bone marrow‐derived dendritic cells and evaluated the capacity of VWF to block the internalization of FVIII. We characterized the relevance of VWF for the accumulation of F... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388788 Wed, 02 Nov 2011 04:00:00 +0100 5388788 http://www.medworm.com/index.php?rid=5388787&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02680.x The objective of this article is to highlight the value of ultrasounds in the diagnosis and control of the evolution of musculo‐skeletal problems in haemophilia patients. To this end, we have performed a literature search in the PubMed, Web of Science® (WOS) and SciVerse bases, using the following keywords: hemophilia or haemophilia and ultrasonography (US), ultrasound, echography and sonography. The search was limited to studies published in English between the years 1991 and 2011, finding a total of 221 references. After reviewing the title or abstract for evidence of the use of US for the diagnosis of musculo‐skeletal lesions in haemophilia, we selected 24 of these references. We added data collected from our experience to the most important data found in the references. Our main c... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388787 Wed, 02 Nov 2011 04:00:00 +0100 5388787 http://www.medworm.com/index.php?rid=5388786&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02687.x Summary.  Inhibitory antibodies to exogenous FVIII/FIX are a major complication of haemophilia treatment. Up to 30% of previously untreated patients (PUPs) with severe haemophilia A develop inhibitors, most likely during the initial 50 exposure days to concentrate. In addition to classical cohort studies, a European monitoring system (EUHASS) has been set up to evaluate inhibitor development in PUPs. The present study addresses the reliability of estimating the cumulative incidence of inhibitor development in this registry. Data from the retrospective CANAL cohort study, including 288 PUPs with severe haemophilia A and complete treatment records until the 50th exposure to FVIII, were used to simulate the consequences of several cross‐sectional sampling techniques on the estimated incid... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388786 Wed, 02 Nov 2011 04:00:00 +0100 5388786 http://www.medworm.com/index.php?rid=5388785&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02690.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388785 Wed, 02 Nov 2011 04:00:00 +0100 5388785 http://www.medworm.com/index.php?rid=5516041&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02721.x Summary.  Recently, the United Kingdom Haemophilia Centre Doctors Organisation published recommendations for the standard of care for assessment and treatment of patients with bleeding disorders in the emergency department (A&E). An audit was undertaken to compare the level of care to the acceptable standards in a tertiary hospital A&E, attached to a haemophilia comprehensive care centre. A&E attendances were found by cross referencing all patients with known bleeding disorders against the EDMS attendance system. Visits from the past 3 years were identified to produce sufficient data and electronic notes from these visits were then accessed, and marked against the proforma. Data were available from 45 of a total of 54 patients, who had a total of 75 emergency visits documen... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5516041 Tue, 01 Nov 2011 04:00:00 +0100 5516041 http://www.medworm.com/index.php?rid=5506078&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02714.x This report summarizes the participants’ attitudes towards their haemophilia, previous injuries, perceived barriers to seeking treatment, as well as their decision‐making process when self‐assessing injury. The interviews demonstrated that communication between the young adults and the health care team was not optimal, with common reference to the ineffectiveness of lecture style education. Gaps in knowledge also emerged regarding bleed identification and management. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5506078 Tue, 01 Nov 2011 04:00:00 +0100 5506078 http://www.medworm.com/index.php?rid=5495471&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02716.x This study aimed to highlight actual and perceived barriers that IBD patients from the East London area were experiencing. It also gives an overview of the experience history of the General Dental Practitioners (GDPs) treating these patients. Information was gathered via pre‐designed surveys as part of a service development audit. A total of 105 anonymous patient surveys and 50 GDP surveys were completed between December 2010 and July 2011. The patient survey highlighted more patients to be affected by patient‐related than disease‐specific barriers to access dental care. The GDP survey identified that just under half of GDPs questioned were not confident in the dental management of patients with bleeding disorders. Identifying misconceptions and barriers to access primary dental care... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5495471 Tue, 01 Nov 2011 04:00:00 +0100 5495471 http://www.medworm.com/index.php?rid=5458837&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02707.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5458837 Tue, 01 Nov 2011 04:00:00 +0100 5458837 http://www.medworm.com/index.php?rid=5450091&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02708.x We report a large spectrum of mutations identified in the course of the past 10 years at the ICHCC, which offers this service to all patients from regions throughout Iran. Aside from the common introns 1 and 22 inversions, this work demonstrates a high degree of heterogeneity in F8 mutations. The establishment of a comprehensive Iranian HA database will improve the care and genetic counselling of Iranian HA families. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5450091 Tue, 01 Nov 2011 04:00:00 +0100 5450091 http://www.medworm.com/index.php?rid=5432435&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02701.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5432435 Tue, 01 Nov 2011 04:00:00 +0100 5432435 http://www.medworm.com/index.php?rid=5409577&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02694.x This study suggests that the prevalence of inhibitors in our population is lower than that was previously published. We hypothesize that this is primarily due to the increased use of ITI, but other factors may be the unselected nature of the cohort and the restriction of the study to one date thereby conforming as close as practical to the definition of prevalence rather than incidence. The classification system used in this study was easy for clinics to apply and was important in defining the population with inhibitors. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5409577 Tue, 01 Nov 2011 04:00:00 +0100 5409577 http://www.medworm.com/index.php?rid=5388781&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02689.x Summary.  Access to modern treatments allows adolescents with haemophilia to manage their haemophilia at home, with improved treatment outcomes and quality of life, but has reduced peer support and the potential for experiential learning from older peers. Social networking, aided by modern communication technologies, may offer health benefits through peer support. We sought to assess whether or not disease‐specific social networking could benefit adolescents with severe haemophilia. A total of 150 adolescents (aged 10–18) with severe haemophilia A or B from 11 UK treatment centres or those who had attended focus groups to explore the potential for a social network designed specifically for their use were surveyed. Teenage boys with severe haemophilia in the UK who responded to an onl... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5388781 Tue, 01 Nov 2011 04:00:00 +0100 5388781 http://www.medworm.com/index.php?rid=5362623&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02634.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5362623 Tue, 01 Nov 2011 04:00:00 +0100 5362623 http://www.medworm.com/index.php?rid=5362622&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02639.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5362622 Tue, 01 Nov 2011 04:00:00 +0100 5362622 http://www.medworm.com/index.php?rid=5362621&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02663.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5362621 Tue, 01 Nov 2011 04:00:00 +0100 5362621 http://www.medworm.com/index.php?rid=5362620&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02682.x Summary.  Severe haemophilia is associated with recurrent joint bleeds, which can lead to haemophilic arthropathy. Subclinical joint bleeds have also been associated with joint damage detected using magnetic resonance imaging (MRI). We investigated the development of early changes in clinically asymptomatic joints using MRI in haemophilia A or B patients receiving prophylactic therapy. In this single‐centre retrospective cohort study, patients with clinical evidence of joint damage in one ankle and one clinically asymptomatic ankle, in which we performed an MRI scan of both ankles in one session, were enrolled. MRI findings were graded using a 4‐point scoring system (0 = normal findings and III = severe joint damage). Since 2000, 38 MRIs in 26 patients have been performed. St... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5362620 Tue, 01 Nov 2011 04:00:00 +0100 5362620 http://www.medworm.com/index.php?rid=5324614&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02675.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5324614 Tue, 18 Oct 2011 11:32:15 +0100 5324614 http://www.medworm.com/index.php?rid=5324618&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02674.x Summary.  Recombinant factor VIIa is indicated for treatment of bleeding episodes in patients with haemophilia A or B with inhibitors; in FVII deficiency and in Glanzmann’s thrombasthenia. The aim of the study reported here was to compare the pharmacokinetic profiles between two formulations of rFVIIa that are produced in two different cell lines and media: Chinese hamster ovary cells cultured in a serum‐free medium (CHO‐rFVIIa) and baby hamster kidney cells cultured in a non‐human serum‐based medium (BHK‐rFVIIa). Two clinical trials were performed; one in healthy subjects and the other in patients with congenital haemophilia A or B, with or without inhibitors. Subjects were recruited into a two‐way crossover trial and were randomized to receive a dose of CHO‐rFVIIa and B... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5324618 Mon, 17 Oct 2011 04:00:00 +0100 5324618 http://www.medworm.com/index.php?rid=5324617&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02672.x Summary.  Imaging is an essential tool for evaluation and monitoring of haemophilic arthropathy. Ultrasonography is increasingly used for joint assessment, due to its great sensitivity for soft tissue and relatively low cost. To assess the joint status and the role of ultrasonography in routine diagnosis and monitoring of joint disease in cohort haemophilic patients. Findings of patients with haemophilia, who routinely underwent ultrasonography were retrospectively evaluated to assess their joint status and the role of ultrasonography in routine diagnosis and monitoring of joint disease. Out of 325 joints examined (115 ankles, 210 knees), ultrasonography identified damages in 50% of ankles and 33% of knees in overall 111 patients, aged 7–80 years (median = 29 years). Synovial h... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5324617 Mon, 17 Oct 2011 04:00:00 +0100 5324617 http://www.medworm.com/index.php?rid=5324616&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02673.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5324616 Mon, 17 Oct 2011 04:00:00 +0100 5324616 http://www.medworm.com/index.php?rid=5324615&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02676.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5324615 Mon, 17 Oct 2011 04:00:00 +0100 5324615 http://www.medworm.com/index.php?rid=5316310&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02657.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5316310 Sat, 15 Oct 2011 12:16:01 +0100 5316310 http://www.medworm.com/index.php?rid=5316308&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02670.x Summary.  To explore the effectiveness of modified inversion‐polymerase chain reaction (I‐PCR) to detect the factor VIII (FVIII) intron 22 inversion (Inv22) for genetic diagnosis and prenatal diagnosis in haemophilia A (HA). Both modified I‐PCR and LD‐PCR were applied to analyse the FVIII Inv22 for 24 patients with HA. Prenatal diagnosis was performed on six foetuses. Foetal blood samplings were carried out by cordocentesis from 22 to 26 weeks of gestation. Ten patients with FVIII Inv22 in 10 HA families were found, and the remaining 14 patients were found without the Inv22 in 19 HA families. Prenatal diagnosis confirmed that four foetuses were normal and all of them born normally. However, two foetuses had been identified as abnormal and undergone abortion. Compared with LD‐... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5316308 Sat, 15 Oct 2011 12:13:17 +0100 5316308 http://www.medworm.com/index.php?rid=5316309&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02671.x Summary.  Over the last few decades, clinical follow‐up of patients with haemophilia has become more complex as a result of the introduction of new treatment strategies, the presence of comorbidities related to haemophilia or ageing, as well as the emergence of new tools to evaluate the medical and social consequences of haemophilia. This publication describes the parameters and information that should be documented and the tests, examinations and interventions required for optimal follow‐up of a patient with haemophilia. In the absence of formal studies, the present recommendations have been established as result of a series of consensus meetings in the frame of the European Haemophilia Therapy Standardization Board (EHTSB). The following 11 domains were identified: Baseline informa... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5316309 Thu, 13 Oct 2011 04:00:00 +0100 5316309 http://www.medworm.com/index.php?rid=5305169&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02668.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5305169 Mon, 10 Oct 2011 04:00:00 +0100 5305169 http://www.medworm.com/index.php?rid=5305170&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02661.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5305170 Sun, 09 Oct 2011 04:00:00 +0100 5305170 http://www.medworm.com/index.php?rid=5286649&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02664.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5286649 Tue, 04 Oct 2011 04:00:00 +0100 5286649 http://www.medworm.com/index.php?rid=5286648&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02665.x Summary.  To prevent bleeding related to adenoidectomy and tonsillectomy, coagulation screening tests were, until recently, performed routinely in the Czech Republic for all paediatric patients. The aim of this study was to evaluate benefit of preoperative coagulation screening tests in children. We retrospectively analysed laboratory and clinical data of children referred for abnormal preoperative coagulation test results (aPTT, PT) to the outpatient haematology clinic. A total of 274 paediatric patients were retrospectively evaluated due to abnormal preoperative coagulation tests results. In 140 of 274 patients (51.1%), coagulation tests were normal on repeated testing in a specialized haematology clinic. Ten patients had decreased factor XII. Five patients had a suspected bleeding dis... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5286648 Tue, 04 Oct 2011 04:00:00 +0100 5286648 http://www.medworm.com/index.php?rid=5286647&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02666.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5286647 Tue, 04 Oct 2011 04:00:00 +0100 5286647 http://www.medworm.com/index.php?rid=5261774&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02625.x Summary.  To determine changes in Factor VIII (FVIII) and von Willebrand Factor (VWF) in the first 3 days of the puerperium. A prospective study assessing FVIII clotting activity, VWF activity and antigen levels in 95 women (with singleton uncomplicated pregnancies) during labour and on days 1, 2 and 3 of the puerperium. There were no significant differences in FVIII, VWF:Ag and VWF:CB on days 1 and 2 of the puerperium compared with levels during labour. There was a significant decrease in VWF:Ag (P = 0.009) and VWF:CB (P = 0.04) on day 3. Age, ethnicity, duration of labour and mode of delivery did not have any significant effect on the changes in FVIII and VWF levels. The pregnancy induced increase in FVIII and VWF is maintained in the first 48 h after delivery. VWF levels s... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5261774 Wed, 28 Sep 2011 04:00:00 +0100 5261774 http://www.medworm.com/index.php?rid=5261773&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02658.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5261773 Wed, 28 Sep 2011 04:00:00 +0100 5261773 http://www.medworm.com/index.php?rid=5261775&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02659.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5261775 Tue, 27 Sep 2011 04:00:00 +0100 5261775 http://www.medworm.com/index.php?rid=5251496&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02652.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251496 Fri, 23 Sep 2011 04:00:00 +0100 5251496 http://www.medworm.com/index.php?rid=5251500&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02633.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251500 Thu, 22 Sep 2011 04:00:00 +0100 5251500 http://www.medworm.com/index.php?rid=5251499&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02655.x Summary.  von Willebrand factor (VWF) has the capacity to form a complex with factor VIII (FVIII) which may modulate the immunogenicity of FVIII. It has been proposed that a significant fraction of recombinant FVIII (rFVIII) is unable to bind VWF. In an experimental model studied at the McMaster University in Canada, this VWF‐unbound rFVIII fraction showed no coagulant function. Sulphation of FVIII tyrosine (Tyr) 1680 has been reported as essential for the interaction with VWF. In a study performed at the Grifols and CNS‐CSIC in Spain, Tyr1680 sulphation was observed to be incomplete in rFVIII and complete in plasma‐derived FVIII (pdFVIII). This could explain the incapability of some rFVIII molecules to bind VWF. Experience with immune tolerance induction (ITI) at the Bonn Haemophi... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251499 Thu, 22 Sep 2011 04:00:00 +0100 5251499 http://www.medworm.com/index.php?rid=5251498&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02660.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251498 Thu, 22 Sep 2011 04:00:00 +0100 5251498 http://www.medworm.com/index.php?rid=5251497&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02651.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251497 Thu, 22 Sep 2011 04:00:00 +0100 5251497 http://www.medworm.com/index.php?rid=5239026&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02648.x Summary.  Individuals with haemophilia A exhibit bleeding tendencies that are not always predicted by their factor (F)VIII level. It has been suggested that bleeding in haemophilia is due not only to defective prothrombin activation but also aberrant fibrinolysis. Thrombin activatable fibrinolysis inhibitor (TAFI) activation was measured in tissue factor (TF)‐initiated blood coagulation in blood samples of 28 haemophiliacs and five controls. Reactions were quenched over time with FPRck and citrate and assayed for TAFIa and thrombin‐antithrombin (TAT). The TAFIa potential (TP), TAFI activation rate and the TAFIa level at 20 min (TAFIa20 min) was extracted from the TAFI activation progress curve. In general, the time course of TAFI activation follows thrombin generation regardless ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5239026 Tue, 20 Sep 2011 04:00:00 +0100 5239026 http://www.medworm.com/index.php?rid=5227151&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02630.x This study consists of 102 HA families which include 68 mothers for prenatal diagnosis and 107 female relatives for carrier diagnosis, and 29 HB families which include 16 mothers and 31 female relatives respectively. The rapid fluorescent PCR with two groups of different combined polymorphism markers was applied for linkage analysis in HA and HB families respectively. The Amelogenin gene was added to help the detection of gender diagnosis. Gene sequencing was also used to detect the mutations directly. There were 37 causative F8C mutations (23 novel) and 24 causative F9C mutations (eight novel) found in this cohort of patients. Few of the women could not be diagnosed due to homologous recombination and/or inability to locate the mutation. Complicated cases have been found in some families.... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227151 Mon, 12 Sep 2011 04:00:00 +0100 5227151 http://www.medworm.com/index.php?rid=5227150&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02632.x Summary.  Brain insults are a risk factor for neuropsychological and academic deficits across several paediatric conditions. However, little is known about the specific effects of intracranial haemorrhage (ICH) in boys with haemophilia. The study compared neurocognitive, academic and socio‐emotional/behavioural outcomes of boys with haemophilia with and without a history of ICH. Of 172 consecutive patients seen at a Pediatric Comprehensive Care Hemophila Centre, 18 had a history of ICH. Sixteen boys between the ages of 3 and 17 years were available for study and were matched to controls with haemophilia of the same age and disease severity and on the basis of maternal education. Groups were compared on neuropsychological and academic outcomes. Attention, socio‐emotional function an... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227150 Mon, 12 Sep 2011 04:00:00 +0100 5227150 http://www.medworm.com/index.php?rid=5227149&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02642.x Summary.  The development of inhibitors is a complication of replacement treatment in Haemophilia. Loss of factor VIII‐specific memory B cells in the spleen is associated with down regulation of antibodies in mice treated with high doses of FVIII, but changes in B cell memory have not been described in haemophilic patients. The aim of this study was to evaluate the phenotype of circulating lymphocytes in severe haemophilia A. Twenty patients with inhibitors (PI), 22 without inhibitors (P), nine patients during immune tolerance induction (ITI) treatment and 20 healthy donors (HD) were included. Peripheral blood lymphocytes were examined using flow cytometry. Anti‐FVIII antibodies were measured using Bethesda and flow cytometry. Percentages of T subsets and B lymphocytes were similar i... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227149 Mon, 12 Sep 2011 04:00:00 +0100 5227149 http://www.medworm.com/index.php?rid=5227148&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02643.x Summary.  Many persons with severe haemophilia reach seniority thanks to effective treatment. There is no information on health‐related quality of life (HRQoL) of these patients, who had lived for many years when regular replacement therapy was unavailable. Italian patients with severe haemophilia aged ≥65 years born in the 1940s or earlier were compared with men without bleeding disorders matched for age and geography. HRQoL was assessed via generic and disease‐specific questionnaires. Potential associations with concomitant illnesses, orthopaedic status, physical functioning, cognitive status and depression were evaluated. In addition, the newly adapted HRQoL questionnaire specific for elderly persons with haemophilia (Haem‐A‐QoLEldlery) was psychometrically tested and vali... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227148 Mon, 12 Sep 2011 04:00:00 +0100 5227148 http://www.medworm.com/index.php?rid=5227147&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02644.x This study shows that adolescent boys are in fact adherent with treatment, possibly at a schedule decided upon by them rather than one directed by the haemophilia centre. They are able to comprehend complex treatment decisions and make treatment plans that offer them maximum protection with minimal interference in their day‐to‐day activities. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227147 Mon, 12 Sep 2011 04:00:00 +0100 5227147 http://www.medworm.com/index.php?rid=5227146&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02645.x Summary.  Patients with von Willebrand disease (VWD), the most common inherited bleeding disorder, display large variation in bleeding tendency, which is not completely related to VWF levels. The cause of variability in clinical expression is largely unknown. The effect of plasma fibrinolytic capacity on bleeding tendency in VWD patients has not been investigated. We hypothesized that enhanced fibrinolysis may result in a more severe bleeding phenotype. Therefore, we measured the fibrinolytic potential in patients with moderate or severe VWD to investigate the contribution of fibrinolysis to the bleeding tendency. Fibrinolytic potential was measured as plasma clot lysis time (CLT) with and without addition of potato carboxypeptidase inhibitor (PCI) in 638 patients with moderate or severe... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227146 Mon, 12 Sep 2011 04:00:00 +0100 5227146 http://www.medworm.com/index.php?rid=5227145&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02647.x This study aimed to determine the respective weight and frequency of the various causes of death in AH. Multiple‐cause analysis based on death certificates data is used in this purpose. Over a 10‐year period (2000–2009), 121 deaths with AH as a cause were registered in France. All the deaths were of adults (extremes: 47 and 99 years; mean age: 80.7 years). The average number of causes per death certificate was 4.7. AH was the underlying cause of death (UCD) in 69.4% of the cases, and was more frequent in the older subjects. In contrast, before age of 75 years, AH was more often a contributing cause of death. No postpartum or obvious thromboembolism‐related deaths were registered. Haemorrhagic shock was the most frequent direct cause of death (DCD), followed by infectious even... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227145 Mon, 12 Sep 2011 04:00:00 +0100 5227145 http://www.medworm.com/index.php?rid=5227144&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02646.x Summary.  Rare disease research is increasingly challenging. For those with haemophilia, this is an exciting time, with the promise of new therapies at the bench and in early phase clinical trials. Yet, it is also a time for critical assessment and planning to assure the success of the clinical research effort. As successes at the bench have enabled transition of novel peptides, longer‐acting factor products and gene therapy to clinical trials, clinicians face the challenges of limited number of patients, competing priorities and strained resources. To solve these problems and assure the success of the clinical research effort, it is essential that the research process be enabling and the dialogue be global, involving academia with industry, and physicians with patients. This is a crit... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227144 Mon, 12 Sep 2011 04:00:00 +0100 5227144 http://www.medworm.com/index.php?rid=5210091&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02626.x Summary.  Successful strategies by which to effectively recruit and retain academic subspecialists in benign haematology have not been established. To evaluate the effectiveness of a grant‐funded, mentored fellowship with respect to retention and early career goals in haemostasis/thrombosis, we sought to compare outcomes for graduates of a grant‐funded, mentored fellowship training programme in haemostasis/thrombosis [the National Hemophilia Foundation (NHF)‐Baxter Clinical Fellowship Award] during conventional haematology/oncology fellowship training (cases), vs. their training peers who were graduates of conventional haematology/oncology fellowship training alone (controls), via a nested case‐control survey study. Survey response rate was 85% (11/13) for cases and 90% (9/10) fo... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5210091 Wed, 07 Sep 2011 04:00:00 +0100 5210091 http://www.medworm.com/index.php?rid=5210090&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02638.x Summary.  Haemophilia A individuals displaying a similar genetic defect have heterogeneous clinical phenotypes. Our objective was to evaluate the underlying effect of exogenous factor (f)VIII on tissue factor (Tf)‐initiated blood coagulation in severe haemophilia utilizing both empirical and computational models. We investigated twenty‐five clinically severe haemophilia A patients. All individuals were on fVIII prophylaxis and had not received fVIII from 0.25 to 4 days prior to phlebotomy. Coagulation was initiated by the addition of Tf to contact‐pathway inhibited whole blood ± an anti‐fVIII antibody. Aliquots were quenched over 20 min and analyzed for thrombin generation and fibrin formation. Coagulation factor levels were obtained and used to computationally predict t... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5210090 Wed, 07 Sep 2011 04:00:00 +0100 5210090 http://www.medworm.com/index.php?rid=5210089&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02641.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5210089 Wed, 07 Sep 2011 04:00:00 +0100 5210089 http://www.medworm.com/index.php?rid=5305168&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02656.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5305168 Thu, 01 Sep 2011 04:00:00 +0100 5305168 http://www.medworm.com/index.php?rid=5286646&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02667.x Summary.  Establishing haemostasis for surgical procedures in children with inherited bleeding disorders is challenging. Providers are often hesitant to undertake surgeries in children with bleeding disorders out of fear of bleeding complications. To review the preoperative management and haemorrhagic complications of children with inherited bleeding disorders at our institution, we conducted a retrospective electronic medical record review from 1999 to 2010. Primary focus was review of bleeding complications and factor replacement strategies. A total of 168 procedures were performed in 66 children. Fifteen procedures (8%) in four children were performed in the presence of high‐titre factor inhibitors. Procedures included central venous catheter (CVL) placement or revision (41%), otola... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5286646 Thu, 01 Sep 2011 04:00:00 +0100 5286646 http://www.medworm.com/index.php?rid=5261772&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02662.x This study was undertaken to assess this new method. First, the analytical performance of VWF:AC on an automated coagulo‐meter (ACLTop) was determined, and then this new method was compared with VWF:RCo and the platelet function analyzer (PFA100) for 160 patients referred for VWD screening. The VWF:AC achieved acceptable precision with within‐run and between‐run coefficients of variation ranging from 2.3% to 14.1%, and linearity from 10% to 100%. Despite some marked differences between VWF:AC and VWF:RCo for 10 plasmas tested, their agreement for VWD diagnosis was good. The VWF:AC had sensitivity similar to that of PFA100 (close to 100%), but better specificity (97.7% vs. 66% or 60%, depending on the cartridge used). The good analytical performance, and the sensitivity and specificit... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5261772 Thu, 01 Sep 2011 04:00:00 +0100 5261772 http://www.medworm.com/index.php?rid=5251495&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02653.x This study was conducted to identify clinical practices and examine health professional attitudes regarding NIPD for foetal sex determination. A qualitative approach using one‐to‐one semi structured interviews was used to enable an in‐depth exploration of current practice, introduction and use of NIPD and benefits and disadvantages of offering NIPD. Interviews were conducted with consultant haematologists (N = 7), specialist haemophilia nurses (N = 7), genetic counsellors (N = 6), consultants in clinical genetics (N = 5), specialist midwives (N = 2) and obstetricians (N = 5) from 24 services across the United Kingdom (UK). Key differences in how NIPD for foetal sexing is utilized throughout the UK were identified. Some services routinely offered NIPD to all ca... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5251495 Thu, 01 Sep 2011 04:00:00 +0100 5251495 http://www.medworm.com/index.php?rid=5239025&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02654.x Summary.  Haemophilic arthropathy is the most common clinical manifestation of haemophilia, secondary to recurrent haemarthroses and chronic synovitis. Modern bleeding‐preventing drugs have limited significantly the incidence of severe arthropathy, and primary approach is usually conservative. Use of intra‐articular injections of hyaluronan acid is considered one of the most efficient treatments for early stages of articular degenerative diseases. Assessment of long‐term effectiveness of intra‐articular administration of hyaluronic acid (HA) in knees, ankles and elbows of patients affected by haemophilic arthropathy was done for 46 patients (10 elbows, 24 knees and 25 ankles) affected by haemophilic arthropathy. They received injections of HA and were evaluated with Visual Analog... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5239025 Thu, 01 Sep 2011 04:00:00 +0100 5239025 http://www.medworm.com/index.php?rid=5227143&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02649.x This study was conducted to examine the use of factor assistance programmes and estimate annual amounts of factor dispensed by each programme along with their associated costs. Retrospective review of pharmacy and medical record of all patients who attended the Gulf States Hemophilia and Thrombophilia Center, and who were enrolled in any factor assistance programme(s) between January 2007 and December 2010 was performed. During the 4‐year observation period, approximately 19% of the centre’s haemophilia patient population was enrolled and received free factor products from at least one patient assistance programme. In addition, approximately 9.1 million dollars (US) worth of factor replacement therapy was donated to our patients during the study time. Although assistance programmes hav... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5227143 Thu, 01 Sep 2011 04:00:00 +0100 5227143 http://www.medworm.com/index.php?rid=5210088&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02650.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5210088 Thu, 01 Sep 2011 04:00:00 +0100 5210088 http://www.medworm.com/index.php?rid=5163380&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02614.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5163380 Sat, 27 Aug 2011 16:23:28 +0100 5163380 http://www.medworm.com/index.php?rid=5163377&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02640.x This study aimed to describe the approaches used to confirm private disease‐causing mutations in a cohort of Belgian HA patients. We studied 148 unrelated HA families for the presence of intron 22 and intron 1 inversion by Southern blotting and polymerase chain reaction (PCR). Multiplex ligation‐dependent probe amplification (MLPA) assay was used to detect large genomic rearrangements. Detection of point mutations was performed by DNA sequencing. Predicting the causal impact of new non‐synonymous changes was studied by two general strategies: (i) molecular approaches such as family cosegregation, evaluation of the implicated codon based on phylogenic separated species and absence of the mutation in the general Belgian population, and (ii) bioinformatics approaches to analyse the pote... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5163377 Sat, 27 Aug 2011 16:22:25 +0100 5163377 http://www.medworm.com/index.php?rid=5163379&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02636.x Summary.  Finding differences in drug utilization patterns within rare patient populations is challenging without access to a large sample. Our objective was to identify patient and treatment‐related factors associated with differences in annual recombinant factor VIII (rFVIII) utilization in a large cohort of haemophilia A patients. This retrospective analysis utilized a large, US specialty pharmacy dispensing database from January 2006 to September 2009. Differences in median annual FVIII utilization (IU kg−1year−1) by age, severity, treatment regimen, rFVIII product type and health insurance plan were tested using non‐parametric statistics and regression analysis. A total of 1011 haemophilia A patients were included in the overall analysis. Severe haemophilia patients had hi... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5163379 Tue, 23 Aug 2011 23:00:00 +0100 5163379 http://www.medworm.com/index.php?rid=5163378&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02637.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5163378 Tue, 23 Aug 2011 23:00:00 +0100 5163378 http://www.medworm.com/index.php?rid=5144846&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02635.x Summary.  We aimed to evaluate the effect of regular prophylaxis with a Factor X (FX) concentrate for patients with severe FXD in Iran and to assess the correlation of the genotype and phenotype in these patients. Ten patients with severe FXD (FX activity <1%) were enrolled and characterized during 2010–2011. Prophylaxis with 20 IU FX P Behring per kg body weight was administered once a week. FX levels, were monitored at baseline, 15 and 30 min, 1, 3, 6, 12, 24, 48, 72 and 96 h after starting prophylaxis. All patients were followed for 1 year. The mean age of the patients was 15 ± 7.8 years (age range of: 6–27 years). One patient had anaphylactic reaction after the first infusion, and the treatment was stopped. During one‐year follow‐up after starting prophyla... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5144846 Sat, 20 Aug 2011 16:56:18 +0100 5144846 http://www.medworm.com/index.php?rid=5144848&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02629.x This study describes the relation between age and other risk factors for inhibitor development in mild haemophilia. A retrospective cohort study was conducted among all patients with mild haemophilia (FVIII 0.05–0.40 IU mL−1) registered at the van Creveldkliniek, University Medical Centre Utrecht, The Netherlands. Data on peak treatment with FVIII, gene mutation and history of inhibitor development were obtained from patient files from the period between 1st January 1970 and 31st December 2009. A total of 231 out of 297 (78%) patients had at least one exposure to FVIII, of whom 14 (6.1%) developed an inhibitor to FVIII at a median age of 66 years after a median of 50 effective dose (ED). Age at first exposure, age at peak treatment, number of peak treatments and Arg593Cys mutatio... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5144848 Thu, 18 Aug 2011 23:00:00 +0100 5144848 http://www.medworm.com/index.php?rid=5144847&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02631.x This article will review liver transplantation in the haemophilia patient highlighting three case studies demonstrating the effectiveness of specific short‐term factor infusions and other haemostatic support to minimize bleeding during the surgical period. These cases confirm the opportunity for successful liver transplantation for haemophilia patients utilizing specific factor recommendations with minimal bleeding risk. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5144847 Thu, 18 Aug 2011 23:00:00 +0100 5144847 http://www.medworm.com/index.php?rid=5110562&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02615.x Summary.  Haemarthroses (intra‐articular haemorrhages) are a frequent finding typically observed in patients with haemophilia. Diagnosis and treatment of these bleeding episodes must be delivered as early as possible. Additionally, treatment should ideally be administered intensively (enhanced on‐demand treatment) until the resolution of symptoms. Joint aspiration plays an important role in acute and profuse haemarthroses as the presence of blood in the joint leads to chondrocyte apoptosis and chronic synovitis, which will eventually result in joint degeneration (haemophilic arthropathy). Ultrasonography (US) is an appropriate diagnostic technique to assess the evolution of acute haemarthrosis in haemophilia, although magnetic resonance imaging remains the gold standard as far as ima... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5110562 Wed, 10 Aug 2011 18:31:29 +0100 5110562 http://www.medworm.com/index.php?rid=5098683&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02627.x This study was conducted to determine whether a broader selection of FVIII dosage strengths results in improved dispensing accuracy and an increased number of single‐vial users. This research retrospectively analyzed a US pharmacy database of prescriptions filled in 2008. Recombinant FVIII (rFVIII) therapies were classified by the range of dosage strengths offered in 2008: Group 1 had three dosage strengths; Group 2 had four dosage strengths; and Group 3 had six dosage strengths. A total of 76 584 dispensed doses of rFVIII for 1 244 patients were included in this analysis. Dispensing accuracy (calculated as both the absolute and relative difference between dispensed and prescribed dose) was significantly better for Group 3 (23.2 IU, 1.2%) than Groups 1 (33.5 IU, 1.6%) and 2 (50.2... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5098683 Wed, 03 Aug 2011 23:00:00 +0100 5098683 http://www.medworm.com/index.php?rid=5098682&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02628.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5098682 Wed, 03 Aug 2011 23:00:00 +0100 5098682 http://www.medworm.com/index.php?rid=5098681&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02623.x Summary.  Inpatient costs comprise >50% of annual healthcare costs for haemophilia patients with inhibitors but no reports exist on inpatient resource use and costs at a US national level. To quantify inpatient resource use and costs for on‐demand treatment of bleeds of US haemophilia patients with inhibitors and compare costs and treatment duration between Factor VIII bypassing agents (BAs). Stays with haemophilia A from 2003–2008 were identified from inpatient billing records. Presence of inhibitors was inferred through use of BA; recombinant activated Factor VII and plasma‐derived activated prothrombin complex concentrate. Duration and number of infusions of BA, length of stay, use of opioid‐containing analgesics and costs were assessed and compared. Among 1322 stays mean B... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5098681 Wed, 03 Aug 2011 23:00:00 +0100 5098681 http://www.medworm.com/index.php?rid=5064297&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02620.x Summary.  To assess whether a genetic relationship exists between the viruses infecting HIV‐positive patients with haemophilia and those infecting plasma donors, we determined the vif sequences in 169 individuals, including 20 haemophilia patients, 3 plasma donors, and 146 local controls. Twenty haemophilia patients were diagnosed with HIV‐1 at 1–2 years after exposure to factor IX (FIX) manufactured in Korea, beginning in 1989–1990. Plasma samples from donors O and P were used to manufacture clotting factors including FIX used to treat the 20 haemophiliacs. The vif gene from frozen stored serum samples obtained 1–3 years after diagnosis was amplified by RT‐PCR, and subjected to direct sequencing. Phylogenetic analysis revealed that vif sequences from 128 of the samples (... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5064297 Sat, 23 Jul 2011 23:00:00 +0100 5064297 http://www.medworm.com/index.php?rid=5040810&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02619.x Summary.  In patients with confirmed or suspected type 1 von Willebrand disease (VWD), adenotonsillectomy has been reported to be associated with a rate of peri‐operative hemorrhage between 8 and 23%. Desmopressin acetate (DDAVP, 1‐deamino 8‐D arginine‐ vasopressin) is the treatment of choice for type 1 patients with baseline von Willebrand factor levels of 10 IU/dL or greater. DDAVP is generally well tolerated; however, severe hyponatremia and seizures have been reported in young children less than 2 years of age, limiting its use in this age group. Antifibrinolytic therapy plays an important adjunctive role in the effective treatment of mucocutaneous bleeding, particularly in the oropharynx where the salivary concentration of fibrinolytic enzymes is high. During the past 10 yea... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5040810 Mon, 18 Jul 2011 23:00:00 +0100 5040810 http://www.medworm.com/index.php?rid=5040809&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02608.x Summary.  N8 is a new recombinant factor VIII (rFVIII) compound produced and formulated without human‐ or animal‐derived protein. The aims of the present studies were to evaluate the pharmacokinetics and pharmacodynamics properties of N8 and to compare with a commercially available rFVIII product (Advate®) in haemophilia A mice. The pharmacokinetics were evaluated after single i.v. administration of 80, 120 and 280 IU kg−1 of N8 and Advate® and measurements of FVIII blood concentrations as a function of time. The efficacy and dose response curves of N8 and Advate® (1–200 IU kg−1) were evaluated in a tail bleeding model. Furthermore, the effects in a newly developed haemophilia knee joint haemarthrosis model were investigated. No significant differences were found in ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5040809 Mon, 18 Jul 2011 23:00:00 +0100 5040809 http://www.medworm.com/index.php?rid=5040808&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02617.x Summary.  Although up to 50% of all haemophilic patients followed at haemophilia treatment centres (HTCs) are affected by a mild factor VIII (FVIII) or factor IX (FIX) defect, published data regarding the natural history of these disorders are scarce. To fill this lack of information, a retrospective single centre study was conducted. All cases with mild haemophilia (75 A and 7 B) followed at the regional reference HTC of Parma were evaluated. The patients’ median age at diagnosis was 11.5 years and their median age at first bleeding was 5.5 years; 95% of patients had a history of haemorrhagic problems during their life. Twenty‐three percent of patients were infected by HCV, and none by HIV. Genetic analysis was performed in 80 patients (97% haemophilia A and 100% haemophilia B) ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5040808 Mon, 18 Jul 2011 23:00:00 +0100 5040808 http://www.medworm.com/index.php?rid=5040811&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02610.x Summary.  Highly active antiretroviral therapy (HAART) of HIV+ patients with haemophilia poses specific questions on safety and effectiveness because of long‐lasting HIV infection, multidrug resistance, concomitant chronic liver disease and bleeding risk. Raltegravir belongs to a new class of drugs that inhibits HIV integrase and is known to have a good effectiveness and safety profile. The aim of this study was to evaluate safety and effectiveness of HAART with raltegravir in patients with haemophilia. HIV+ patients with haemophilia treated with raltegravir for ≥6 months were included in this retrospective study. Safety criteria were: occurrence of any adverse event, unexpected blood test abnormalities and increased consumption of coagulation factors. Effectiveness criteria were: ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5040811 Sun, 17 Jul 2011 23:00:00 +0100 5040811 http://www.medworm.com/index.php?rid=5031257&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02605.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5031257 Tue, 12 Jul 2011 23:00:00 +0100 5031257 http://www.medworm.com/index.php?rid=5031256&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02607.x This study aimed to compare the subjective physical performance of PWH with healthy controls and to correlate the results with objective data. Subjective physical performance was assessed via the new questionnaire HEP‐Test‐Q, which consists of 25 items pertaining to four subscales ‘mobility’, ‘strength & coordination’, ‘endurance’ and ‘body perception’. HEP‐Test‐Q subscales were compared with objective data in terms of range of motion, one‐leg‐stand and 12‐minute walk test. Forty‐eight patients (44 ± 11 years) with haemophilia A (43 severe, three moderate) or B (two severe) and 43 controls without haemophilia (42 ± 11 years) were enrolled. PWH showed an impaired subjective physical performance in all HEP‐Test‐Q subscales and in the tota... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5031256 Tue, 12 Jul 2011 23:00:00 +0100 5031256 http://www.medworm.com/index.php?rid=5031255&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02616.x Summary.  Although a decreased areal bone mineral density (BMD) has been reported in patients with haemophilia, data are lacking that would reflect the three‐dimensional structure of the bone and the muscle‐bone relationship. We aimed to assess volumetric BMD, bone geometry and muscle‐bone phenotype in boys with haemophilia, and to describe the association between clinical characteristics of haemophilia and bone quality and structure. A cross‐sectional study was conducted in 41 boys with haemophilia (mean age 12.4, range 6.6–19.8 years) using peripheral quantitative CT (pQCT) at the nondominant forearm. Results were transformed into Z‐scores using previously published reference data. Significant differences were tested by one‐sample t‐test or sign test. Two‐sample t�... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5031255 Tue, 12 Jul 2011 23:00:00 +0100 5031255 http://www.medworm.com/index.php?rid=5031254&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02618.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5031254 Tue, 12 Jul 2011 23:00:00 +0100 5031254 http://www.medworm.com/index.php?rid=5000036&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02603.x Summary.  The ratio of von Willebrand factor (VWF) to FVIII differs among available VWF/FVIII concentrates. Repeated infusions of concentrates with a low VWF:FVIII ratio may expose patients with von Willebrand disease to supranormal FVIII levels. The aim of this study was to determine the effects of repeated infusions with two VWF/FVIII concentrates differing in VWF:FVIII ratio on attained FVIII trough and peak levels as well as other pharmacokinetic parameters. Rabbits were randomized to receive multiple 150 IU kg−1 VWF:RCo infusions at 4 h intervals with VWF/FVIII concentrates of a high (Haemate® P/Humate‐P®) or low (Wilate®) VWF:FVIII ratio. Trough plasma FVIII and VWF levels were measured after each infusion. Pharmacokinetic analysis was performed using samples collected f... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5000036 Sun, 03 Jul 2011 23:00:00 +0100 5000036 http://www.medworm.com/index.php?rid=5098680&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02622.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5098680 Thu, 30 Jun 2011 23:00:00 +0100 5098680 http://www.medworm.com/index.php?rid=5089138&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02624.x Summary.  Plasma‐derived factor IX (FIX) concentrate remains an important choice for replacement therapy in haemophilia B patients. Haemonine® is a high purity double‐virus inactivated human plasma‐derived coagulation FIX concentrate (pdFIX). Aim was to evaluate the clinical efficacy, safety and pharmacokinetic properties of Haemonine in three prospective, open‐label uncontrolled studies and a compassionate use program in previously treated patients with severe haemophilia B. Long‐term efficacy and safety were investigated in 29 patients treated prophylactically and, in addition, treatment on‐demand (TOD) in the case of acute haemorrhage. Pharmacokinetic properties were assessed in 14 patients at baseline and after 3 months of regular treatment. Pharmacokinetic parameters ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5089138 Thu, 30 Jun 2011 23:00:00 +0100 5089138 http://www.medworm.com/index.php?rid=5080763&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02613.x Summary.  Youth frequently access health information online, yet little is known about internet use among adolescents with haemophilia (AWH). A youth‐centred, age‐appropriate online programme is being developed to address the heightened educational needs of AWH as they transit from paediatric to adult care. To describe internet needs and use among AWH treated at the Hospital for Sick Children and determine the features that would make the website useable and desirable for this population. Semi‐structured interviews addressed participants’ internet use and thoughts about a website for AWH. The interviews were audio‐recorded and transcribed verbatim. Three independent reviewers coded the data to determine descriptive categories and grouped them into themes. Eleven of 12 subjects ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5080763 Thu, 30 Jun 2011 23:00:00 +0100 5080763 http://www.medworm.com/index.php?rid=5064296&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02606.x Summary.  Joint physical examination is an important outcome in haemophilia; however its relationship with functional ability is not well established in children with intensive replacement therapy. Boys aged 4–16 years were recruited from two European and three North American treatment centres. Joint physical structure and function was measured with the Haemophilia Joint Health Score (HJHS) while functional ability was measured with the revised Childhood Health Assessment Questionnaire (CHAQ38). Two haemophilia‐specific domains were created by selecting items of the CHAQ38 that cover haemophilia‐specific problems. Associations between CHAQ, HJHS, cumulative number of haemarthroses and age were assessed. A total of 226 subjects – mean 10.8 years old (SD 3.8) – participated; ... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5064296 Thu, 30 Jun 2011 23:00:00 +0100 5064296 http://www.medworm.com/index.php?rid=5053653&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02621.x Summary.  Factor V (FV) deficiency is a rare coagulation disorder, characterized by a bleeding phenotype varying from mild to severe. To date, 115 mutations have been described along the gene encoding for FV (F5) but only few of them have been functionally characterized. Aim of this study was the identification and the molecular characterization of genetic defects underlying severe FV deficiency in a 7‐month‐old Turkish patient. Mutation detection was performed by sequencing the whole F5 coding region, exon–intron boundaries and about 300 bp of the promoter region. Functional analysis of the identified missense mutation was conducted by transient expression of wild‐type and mutant FV recombinant molecules in COS‐1 cells. Two novel mutations: a missense (Pro132Arg) and a 1‐b... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5053653 Thu, 30 Jun 2011 23:00:00 +0100 5053653 http://www.medworm.com/index.php?rid=5040807&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02612.x Summary.  On‐demand therapy with recombinant activated factor VII (rFVIIa) can provide effective haemostasis for spontaneous bleeds in haemophilia patients with inhibitors. However, treatment approaches vary amongst physicians, positively or negatively affecting outcomes. A panel of physicians proposed recommendations for securing and maintaining predictable efficacy with rFVIIa, comparing these with ‘real‐life’ patient management, using a questionnaire circulated to other expert physicians from haemophilia care centres in Europe and the United States. For rFVIIa treatment of spontaneous bleeds in inhibitor patients, early intervention with the highest appropriate dose is recommended. Home‐based therapy can facilitate early intervention. If additional rFVIIa therapy is required... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5040807 Thu, 30 Jun 2011 23:00:00 +0100 5040807 http://www.medworm.com/index.php?rid=5031253&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02611.x Summary.  Intracranial haemorrhage (ICH) is the most serious bleeding symptom in haemophiliacs, resulting in high rates of mortality and disabling sequelae. The Association of Italian Haemophilia Centres carried out a retrospective survey (1987–2008) of ICH occurring in haemophiliacs with the goals to establish: (i) incidence, location of bleeding, death rate and disabling sequels; (ii) risk factors for ICH; and (iii) treatment used during the acute phase of ICH and for recurrence prevention. A total of 112 ICH episodes had occurred in 88 patients (78 haemophilia A, 10 haemophilia B), 24 of whom experienced recurrences. The cumulative hazard of ICH for the whole cohort over the entire follow‐up period was 26.7 per 1000 patients, and the annualized rate of ICH was 2.50 events per 1000... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5031253 Thu, 30 Jun 2011 23:00:00 +0100 5031253 http://www.medworm.com/index.php?rid=5021739&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02609.x (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=5021739 Thu, 30 Jun 2011 23:00:00 +0100 5021739 http://www.medworm.com/index.php?rid=5000035&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02604.x Summary.  Congenital haemophilia A is a chromosome‐linked recessive disorder caused by the deficiency or reduction of factor VIII (FVIII) pro‐coagulant activity. During treatment, some patients develop alloantibodies (FVIII inhibitors) that neutralize the action of exogenously administered FVIII. Currently, the presence of these inhibitors is the most serious adverse event found in replacement therapy. Some studies have suggested that genetic factors influence the development of the FVIII coagulation inhibitors. To identify the class I and II alleles that may be influencing the formation of inhibitors in severe haemophilic patients. Genotyping of the class I (HLA‐A, ‐B and ‐C) and class II (HLA‐DRB1, ‐DQA1 and ‐DQB1) alleles of 122 patients with severe haemophilia A, incl... Haemophilia journals http://www.medworm.com/rss/comments.php?id=5000035 Thu, 30 Jun 2011 23:00:00 +0100 5000035 http://www.medworm.com/index.php?rid=4978204&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02553.x This report represents the first description of an acquired bleeding disorder resulting from a unique cross‐reactive auto‐antibody against a common metal‐ion‐dependent antigenic structure on the Gla‐domain of the vitamin K‐dependent proteins. (Source: Haemophilia) Haemophilia journals http://www.medworm.com/rss/comments.php?id=4978204 Wed, 29 Jun 2011 18:01:38 +0100 4978204 http://www.medworm.com/index.php?rid=4971157&cid=s_29465_19_f&fid=29465&url=http%3A%2F%2Fdx.doi.org%2F10.1111%252Fj.1365-2516.2011.02596.x Summary.  The use of recombinant FVIIa (rFVIIa) to control bleed in individuals with FVII deficiency has been proven to be effective. The main problems associated with its use are that it requires frequent bolus injections to counteract its short half‐life and high cost. Our study aimed to evaluate whether any advantage could be gained by providing rFVIIa by continuous infusion during surgery with regard to haemostatic efficacy, safety and cost. The prospective study included 10 patients with severe FVII deficiency, who underwent 25 surgical procedures (13 major and 12 minor procedures) and were treated with rFVIIa administered by continuous infusion. Tranexamic acid was given concomitantly every 8 h. Prothrombin time, FVII:C assay and thrombin generation assay were used to monitor t... Haemophilia journals http://www.medworm.com/rss/comments.php?id=4971157 Mon, 27 Jun 2011 19:34:09 +0100 4971157